# Macromo — Full Site Content

> Macromo is a preventive-health platform offering blood tests, DNA tests, and personalized AI-driven health insights. Customers order lab tests online, visit a partner lab for sample collection, and receive results with actionable recommendations in the Macromo mobile app. Available in Czechia, Slovakia, Poland, and other EU markets.

This is the expanded companion to https://macromo.com/llms.txt with the full product catalog and blog content inlined. Macromo does not provide a public developer API — see https://macromo.com/developers. Prices below are in the default market currency; per-country pricing is shown on the product pages.

## Products

### DNA Whole Genome Sequencing 30x

- URL: https://macromo.com/product/dna-whole-genome-sequencing
- Price: 29000.0 CZK
- Available: yes

Whole Genome Sequencing (WGS) 30x is the most advanced DNA analysis available, digitizing 100% of your genetic information. You will receive personalized recommendations for optimizing your health and lifestyle. This analysis includes reports on genes associated with longevity.

### DNA Essential

- URL: https://macromo.com/product/macromo-dna-health
- Price: 7000.0 CZK
- Available: yes

When you know your health risks, you can focus on preventing them. You will find out your predispositions and risks for a whole range of diseases, and at the same time, you will get specific recommendations for disease prevention and health optimization.

### Macromo E-gift card

- URL: https://macromo.com/product/macromo-e-gift-card
- Price: 500.0–2000.0 CZK
- Available: yes

Looking for a meaningful gift? A Macromo Gift card is a perfect way to help kickstart better health for your closed ones. They will be able to use it to buy any Macromo test that best suits their health goals.

### Gut Microbiome

- URL: https://macromo.com/product/gut-microbiome-test
- Price: 12000.0 CZK
- Available: no

Understand your body's unique microbiome composition and how it influences your digestion, immune function, and overal health.

### DNA Premium

- URL: https://macromo.com/product/dna-premium-value-offer
- Price: 12000.0 CZK
- Available: yes

You will discover your genetic risk for various diseases and cancers alongside actionable strategies to prevent them. This analysis identifies the ideal diet, exercise routine, and lifestyle habits tailored specifically to your unique DNA while determining which medications work most effectively for your body. Additionally, the reports highlight critical genetic factors that are essential for informed family planning.

### Blood Essential

- URL: https://macromo.com/product/blood-essential
- Price: 1800.0 CZK
- Available: yes

Get a quick overview of your health with this entry-level screening, perfect for preventive care. This test provides simple insights into key areas of your health, including metabolism and kidney function, liver health, muscle metabolism, lipid profile, complete blood count, iron levels, and thyroid function, helping you detect early signs of imbalances and take control of your well-being.

### Blood Men's Hormones Premium

- URL: https://macromo.com/product/blood-test-mens-hormones-premium
- Price: 2500.0 CZK
- Available: yes

Check your hormone levels to understand imbalances that could affect energy, mood, hair loss, and reproductive health. This test helps identify issues related to testosterone and prostate health, which are key to overall well-being.

### Blood Premium

- URL: https://macromo.com/product/blood-premium
- Price: 6000.0 CZK
- Available: yes

A comprehensive health check-up that offers in-depth insight into your body’s core functions, including metabolism and kidney function, liver health, muscle metabolism, lipid profile, complete blood count and iron levels, thyroid function, vitamins and micronutrients, as well as inflammatory and immune markers. This test helps identify potential imbalances, supporting proactive health management.

### Blood Women's Hormones

- URL: https://macromo.com/product/blood-test-womens-hormones-premium
- Price: 2500.0 CZK
- Available: yes

Gain a complete overview of the endocrine signals that regulate your cycle and overal health. By measuring estradiol, progesterone, and your pituitary response through FSH and LH, this test helps identify hormonal imbalances and address concerns related to mood, fertility, and energy levels. It is ideal for women with an active menstrual cycle before menopause.

### Gift voucher - Blood Essential

- URL: https://macromo.com/product/gift-voucher-blood-essential
- Price: 1200.0 CZK
- Available: yes

This gift voucher provides access to an entry-level health screening, perfect for preventive care. You will receive a quick overview of their well-being across key areas, including metabolism, kidney function, liver health, muscle metabolism, lipid profile, complete blood count, iron levels, and thyroid function. It’s an easy and meaningful way to detect early signs of imbalance and take proactive steps toward better health - an ideal gift for anyone who wants to stay in control of their wellness.

### Gift voucher - Blood Premium

- URL: https://macromo.com/product/gift-voucher-blood-premium
- Price: 5500.0 CZK
- Available: yes

This gift voucher grants access to a comprehensive health check-up that provides an in-depth look into the body’s core functions. You will gain valuable insights into metabolism and kidney function, liver health, muscle metabolism, lipid profile, complete blood count and iron levels, thyroid function, key vitamins and micronutrients, as well as inflammatory and immune markers. This advanced screening helps uncover potential imbalances early on, empowering proactive, informed health management. A thoughtful and meaningful gift for anyone committed to taking charge of their well-being.

### Gift voucher - Blood Men's Hormones Premium

- URL: https://macromo.com/product/gift-voucher-blood-mens-hormones
- Price: 2500.0 CZK
- Available: yes

This gift voucher provides access to a hormone level check designed to uncover imbalances that may impact energy, mood, hair health, and overall reproductive well-being. You will gain insights into key markers, including testosterone and prostate-related indicators - essential components of long-term health. A thoughtful choice for anyone looking to better understand their body and take proactive steps toward improved vitality.

### Gift Voucher - Blood Women's Hormones Premium

- URL: https://macromo.com/product/gift-voucher-blood-womens-hormones-premium
- Price: 2000.0 CZK
- Available: yes

This gift voucher offers access to a hormone assessment that reveals how hormonal levels may be influencing mood, fertility, and overall well-being. You will gain valuable insights into how their hormones affect reproductive health and general balance. A meaningful gift for anyone seeking a clearer understanding of their body and a more balanced path to wellness.

### Blood Ultra

- URL: https://macromo.com/product/blood-ultra
- Price: 12000.0 CZK
- Available: yes

Our most comprehensive blood test covering all major health systems, including an extensive hormone panel, metabolism, kidney, heart, and liver function, lipid profile, complete blood count, iron status, thyroid function, vitamins and micronutrients, inflammation, and immune response. This test is designed for those who want the highest level of precision in understanding and optimizing their health.

### Macromo Start

- URL: https://macromo.com/product/macromo-start
- Price: 500.0 CZK
- Available: yes

Get a quick overview with this baseline screening, designed specifically for runners. The test provides essential insights into key areas of your health, including metabolism and kidney function, liver health, lipid profile, and iron and mineral levels. It helps identify potential imbalances early so you can take control of your health.

### DEXA Scan

- URL: https://macromo.com/product/dexa-scan
- Price: 1800.0 CZK
- Available: yes

Understand your body beyond the scale. The Macromo DEXA Scan is the most accurate way to measure your fat mass, lean muscle mass, and bone density, helping you see how your body is truly composed. It’s perfect for tracking your fitness progress and long-term health markers.

### Blood Heavy Metals

- URL: https://macromo.com/product/blood-heavy-metal
- Price: 2900.0 CZK
- Available: yes

Get a clear picture of your toxic metal exposure. This test measures the levels of lead, cadmium, and mercury in your body—three of the most common heavy metals linked to long-term risks. It is ideal for anyone focused on longevity or looking to better understand symptoms such as fatigue or brain fog.

## Blog Articles

### 3 Healthy Christmas Gift Ideas for 2025

- URL: https://macromo.com/blog/news/this-christmas-give-health-they-can-feel-in-person-blood-test-vouchers
- Published: 2025-12-12
- Category: news
- Author: Tereza Zaťková

This Christmas, give the most important gift - health. Instead of another tie, gadget, or piece of decor that will gather dust, consider a present that empowers your loved ones to take control of their wellbeing and live healthier, longer lives. At Macromo, we believe that knowledge is power when it comes to health. That’s why we’ve created at-home tests with easy-to-understand in-app results and personalized health tips, so you’ll know exactly where to begin your health journey. Premium Blood Test: Complex Health Analysis Give the gift of complete clarity. Our In-Person Premium Blood Test is the most comprehensive health check we offer - a deep dive into your body's core functions that reveals exactly what's happening beneath the surface. The test measures 74 biomarkers, to analyze: Blood Composition and Cell Count – Complete blood count and cellular health Liver and Kidney Function – How well your body filters and detoxifies Heart and Metabolic Health – Lipid profile and metabolic function Thyroid Health – The metabolic engine that powers everything Immune System & Inflammation – Your body's defense status Iron and Blood Oxygen Transport – Energy and oxygen delivery Vitamins and Minerals – Essential nutrients for optimal function Essential Blood Test: Basic Health Analysis Sometimes the best gifts are the most thoughtful. Our In-Person Essential Blood Test is the perfect entry point for preventive care - focusing on the core biomarkers that reveal early signs of imbalances and give a clear overview of overall health. The test measures 54 biomarkers, to analyze: Blood Composition and Nutrient Status – Complete blood count and iron levels Liver and Kidney Function – Core detoxification and filtration markers Heart and Metabolic Health – Lipid profile and metabolic function Thyroid Health – Essential metabolic function check Immune System & Inflammation – Immune status and inflammatory markers Men's Hormones Premium Blood Test: The Gift of Hormone Balance For the men in your life who want to feel their best - more energy, better mood, optimal vitality… this is the gift that delivers real answers. Our In-Person Men's Hormones Premium Blood Test measures the critical hormones that affect energy levels, mood, hair health, and reproductive function, helping identify imbalances that standard checkups often miss. The test measures 7 biomarkers, to analyze: Total Testosterone & SHBG – The foundation of male energy, strength, and vitality FAI (Free Androgen Index) – How much testosterone is actually available to your body Albumin – Protein that affects hormone transport and availability PSA & fPSA – Prostate health markers critical for long-term wellbeing TSH – Thyroid function that impacts metabolism and energy How It Works? Purchase the voucher – Choose the test that's right for your loved one Gift it beautifully – Receive a voucher to present They book their appointment – Flexible scheduling at 120+ locations Results delivered – Clear, actionable insights sent straight to their phone This Christmas, give a gift that says "I care about your health and your future." Give them the knowledge to live better, the tools to take control, and the confidence that comes from truly understanding their body. We wish you a happy and healthy Christmas! The Macromo Team

### 3 Healthy Christmas Gifts for 2026

- URL: https://macromo.com/blog/news/healthy-christmas-gift-ideas-for-2025
- Published: 2025-11-27
- Category: news
- Author: Lucia Drobná

This Christmas, give the most important gift - health. Instead of another tie, gadget, or piece of decor that will gather dust, consider a present that empowers your loved ones to take control of their wellbeing and live healthier, longer lives. At Macromo, we believe that knowledge is power when it comes to health. That’s why we’ve created tests with easy-to-understand in-app results and personalized health tips, so you’ll know exactly where to begin your health journey. DNA Test: Unlock the Secrets Written in Their Genes Imagine giving someone a personalized roadmap to their health, written in their own DNA. The Macromo DNA Premium at-home test analyzes over 144 genetic markers to provide insights across multiple areas of health: Disease Prevention Insights Cancer Prevention Insights Nutrition and Fitness Optimization Sleep Quality Medication Response Family Planning Explore DNA Premium Test Men's Health Blood Test: A Complete Health Check For the men in your life who might avoid doctor's visits or want to stay on top of their health between checkups, the Macromo Men's Hormones Blood Test is an ideal gift. This test measures 7 critical biomarkers specifically selected for men's health. What's measured: PSA fPSA (free) Total testosterone SHGB Free Androgen Index (FAI) Albumin Discover Men's Hormones Test Women's Health Blood Test: A Hormonal Health Check For the women in your life who are busy, help them stay on top of their health. This test measures five essential biomarkers, specifically chosen to address women’s unique health needs. What's measured: Estradiol Progesterone Follicle-stimulating hormone Lutenizing hromone Prolactin Check Out Women's Hormones Test We wish you a happy and healthy Christmas! The Macromo Team

### Track These 5 Blood Factors for Better Running

- URL: https://macromo.com/blog/news/track-these-5-blood-factors-for-better-running
- Published: 2025-10-01
- Category: news
- Author: Tereza Zaťková

Do you feel fatigued while running despite regular training? The issue may not be your plan - it could be what’s happening in your blood. Modern research shows that many blood deficiencies go undetected, yet they significantly affect athletic performance [1]. Why standard blood tests aren’t enough Most physicians check only basic parameters that reveal severe deficiencies. For runners, it’s crucial to track subtle changes that can influence oxygen delivery to muscles, energy metabolism, and recovery [5]. 1. Hidden iron deficiency (without anemia) What it is: You can have normal hemoglobin but low iron stores (ferritin). How it affects performance: Iron is essential for oxygen transport and ATP production in mitochondria. Low stores mean reduced oxygen‑carrying capacity and slower recovery [4]. Ferritin and transferrin saturation are included in our B lood Premium panels, which allow you to check iron stores even when standard tests appear normal. What to monitor: Serum ferritin: ideally 50–150 μg/L for runners Transferrin saturation: above 20% Soluble transferrin receptor Symptoms: Fatigue during high‑intensity sessions, slower recovery, difficulty maintaining pace. 2. Suboptimal vitamin D levels What it is: Vitamin D acts more like a hormone than a vitamin and affects muscle function. How it affects performance: Low vitamin D is linked to reduced muscle strength, higher injury risk, and slower bone recovery [8]. Vitamin D status can be measured in the Blood Premium and Blood Ultra . What to monitor: 25‑hydroxyvitamin D: ideally 75–150 nmol/L (30–60 ng/mL) Aim to stay in the upper part of this range Symptoms: Frequent muscle cramps, slow healing of micro‑traumas, greater susceptibility to stress fractures. 3. Vitamin B12 and folate deficiency What it is: These vitamins are essential for red blood cell production and neurological function. How it affects performance: Even mild deficits can reduce erythrocyte production and impair cognition during hard training [7]. B12 and folate are tested together in the Blood Premium panel, which helps detect deficits early. What to monitor: Vitamin B12: above 400 pmol/L (540 pg/mL) Red blood cell folate: above 900 nmol/L Homocysteine: below 10 μmol/L Symptoms: Mental fatigue on long runs, concentration problems, “brain fog.” 4. Chronic inflammation (elevated CRP and IL‑6) What it is: Persistent low‑grade inflammation, often not caused by infection. How it affects performance: Inflammation raises energy demands and slows recovery. It can signal overtraining or inadequate rest [6]. CRP is included in the Blood Premium panel, making it easy to monitor low-grade systemic inflammation. What to monitor: C‑reactive protein (CRP): below 1.0 mg/L Interleukin‑6 (IL‑6): below 2 pg/mL Neutrophil‑to‑lymphocyte ratio Symptoms: Longer recovery times, more frequent minor illnesses, performance stagnation. 5. Electrolyte imbalance (magnesium and potassium) What it is: Deficiency of minerals vital for muscle contraction and nerve conduction. How it affects performance: Magnesium supports 300+ enzymatic reactions; potassium regulates muscle contractions and fluid balance. Electrolytes such as magnesium and potassium are covered in the Blood Premium panel as well as the Blood Ultra panel. What to monitor: Erythrocyte magnesium: 1.65–2.95 mmol/L Serum potassium: 3.5–5.0 mmol/L Sodium‑to‑potassium ratio Symptoms: Muscle cramps, irregular heart rhythm during exertion, increased fatigue. What to do next Comprehensive testing: Ask your doctor for an extended panel - ferritin, vitamin D, B12, folate, CRP, and erythrocyte electrolytes. Optimal vs. normal values: Athletes often need higher targets than the general population [1]. Regular monitoring: Test at least every 6 months, ideally at different phases of your training cycle. Sources: https://link.springer.com/article/10.1007/s40279-019-01158-x https://www.insidetracker.com/a/articles/blood-testing-for-athletes-improving-performance-and-outsmarting-the-competition https://www.rupahealth.com/post/enhancing-athletic-performance-a-functional-medicine-toolkit https://pmc.ncbi.nlm.nih.gov/articles/PMC10608302/ https://www.frontiersin.org/journals/sports-and-active-living/articles/10.3389/fspor.2024.1375740/full https://doi.org/10.3389/fphys.2017.00779 https://doi.org/10.1093/ageing/afg109 https://www.gssiweb.org/en/sports-science-exchange/article/sse-148-the-importance-of-vitamin-d-for-athletes

### 8 Blood Markers to Test Your Biological Age

- URL: https://macromo.com/blog/news/8-blood-markers-to-test-your-biological-age
- Published: 2025-10-01
- Category: news
- Author: Tereza Zaťková

How old are you? There are two answers to that question. The first is your chronological age - how many years you’ve actually lived. The second is your biological age - how fast your body is truly aging. While we can’t change our date of birth, biological aging is influenced by genetics, nutrition, activity, stress, and sleep. Thanks to lab tests, we can now track key biomarkers that show whether your body is aging more slowly or more quickly than your calendar would suggest [1,4,5]. Why biological age matters more than chronological age Two people aged 45 can be biologically very different: one may have the body of someone in their 30s, while the other already shows signs typical of someone in their 60s. The difference comes from lifestyle, environment, and health habits. Biological age is a better predictor of: risk of cardiovascular disease development of diabetes or metabolic syndrome immune resilience overall quality of life and vitality 8 key biomarkers of biological age 1) HbA1c – long‑term blood sugar Measures average blood glucose over the last 2–3 months. Higher values mean poorer blood sugar control and accelerate aging through protein glycation. Optimal value: < 5.2% Influenced by: low‑glycemic diet, physical activity, maintaining a healthy weight [6]. HbA1c is included in Blood Premium panel for a detailed view of metabolic aging. 2) CRP – inflammation marker C‑reactive protein is a sensitive indicator of systemic inflammation. Chronic low‑grade inflammation (“inflammaging”) is one of the main drivers of aging. Optimal value: < 1.0 mg/L (ideally < 0.5 mg/L) Influenced by: anti‑inflammatory diet, quality sleep, stress management [7]. CRP is measured in Blood Premium and Blood Ultra panels. 3) Lipid profile – LDL and HDL cholesterol The balance between “bad” LDL and “protective” HDL indicates atherosclerosis risk and vascular health. It’s not just about absolute numbers but their ratio. Optimal target: low LDL, high HDL (LDL/HDL ratio < 3) Influenced by: omega‑3 fatty acids, exercise, limiting trans fats. Advanced lipid metrics are available in the Blood Ultra panel. 4) Albumin – a marker of vitality The main plasma protein reflects nutritional status, liver function, and overall recovery. Low levels are linked to frailty and higher mortality in older age [4]. Optimal range: 42–48 g/L Influenced by: adequate protein intake, liver health, hydration. Albumin is included in Blood Premium panels focusing on overall metabolic status. 5) Urea – protein metabolism A waste product of protein metabolism. Elevated values may indicate impaired kidney function or excessive physiological load; low values may reflect malnutrition [3]. Optimal range: 2.5–7.5 mmol/L Influenced by: protein balance, hydration, kidney function. Urea is available in Blood Premium and Blood Essential panels. 6) Vitamin D – the longevity hormone Vitamin D is crucial not only for bones but also for immunity, muscles, and hormonal balance. Deficiency is associated with faster aging and higher disease risk [5]. Optimal range: 75–150 nmol/L Influenced by: sun exposure, supplementation, bone health. Vitamin D is included in Blood Premium and Blood Ultra panels. 7) Creatinine – kidney health A marker of renal filtration capacity and overall metabolic load. Values outside the optimal range may point to issues with detoxification and recovery. Optimal range : 45–90 μmol/L (women), 60–110 μmol/L (men) Influenced by: hydration, muscle mass, kidney function [8]. Creatinine is tested within Blood Essential, Blood Premium , Blood Ultra panels. 8) Total protein – the body’s building blocks Measures the combined serum proteins. Low levels suggest poor nutrition, chronic inflammation, or liver problems; high levels can occur with dehydration [6]. Optimal range: 65–85 g/L Influenced by: protein intake, liver health, overall nutrition. Total protein is part of Blood Premium panel assessing nutritional and metabolic balance. How to interpret results Biological age higher than chronological age: indicates faster aging and higher disease risk - lifestyle changes are advisable. Biological age lower than chronological age: the body is aging more slowly, typical of so‑called “super‑agers.” How to slow biological aging Activity: 150 minutes per week of aerobic exercise + strength training 2–3× weekly. Nutrition: Mediterranean‑style diet, sufficient protein, omega‑3s, and minimal ultra‑processed foods. Sleep: 7–9 hours of quality sleep and a regular circadian rhythm. Stress: meditation, mindfulness, social connections. Supplements: vitamin D, omega‑3s, magnesium - as indicated by individual results. Knowing your biological age lets you target the aging process directly. Unlike the calendar, biological age is something we can actively influence - and in some cases even reduce. Investing in preventive blood testing and a healthy lifestyle isn’t just about adding years to life, but adding life to your years. Sources: https://pubmed.ncbi.nlm.nih.gov/39751861/ https://www.medsciencegroup.us/articles/ACP-9-130.php https://researchportal.tuni.fi/en/publications/a-new-blood-based-epigenetic-age-predictor-for-adolescents-and-yo https://pubmed.ncbi.nlm.nih.gov/37303208/ https://elifesciences.org/articles/54870 https://academic.oup.com/biomedgerontology/article-abstract/69/Suppl_1/S4/587037?login=false#google_vignette https://www.science.org/doi/abs/10.1126/science.aab3389 https://www.frontiersin.org/journals/aging/articles/10.3389/fragi.2024.1339317/full

### 3 Science‑Backed Supplements Every Man Over 30 Should Consider

- URL: https://macromo.com/blog/news/3-science-backed-supplements-every-man-over-30-should-consider
- Published: 2025-10-01
- Category: news
- Author: Tereza Zaťková

After thirty, the male body begins to change in ways many men don’t notice until it’s late. Testosterone gradually declines by roughly 1% per year after age 30 [2], metabolism slows, and recovery worsens. The right supplementation - grounded in solid science - can slow these changes [1]. There are thousands of supplements on the market with big promises - but which ones really work? After analyzing the latest studies, three key supplements stand out with the strongest evidence for men over 30. Why supplementing after 30 makes sense From age 30, men naturally lose: 1–2% of muscle mass per year (sarcopenia) 1% of testosterone per year (andropause) 0.5–1% of bone density per year Mitochondrial function and efficiency Cognitive speed and memory abilities At the same time, there’s an increase in: Oxidative stress and cellular damage Chronic low‑grade inflammation (inflammaging) Risk of metabolic disorders and type 2 diabetes Fatigue and slow recovery Risk of cardiovascular disease 1. Creatine Monohydrate: Not Just for Building Muscle Creatine is one of the most researched supplements, with 1,000+ published studies (Buford et al., 2007). Current evidence suggests creatine monohydrate can benefit cognitive function in adults, especially in the areas of memory, attention span, and processing speed [6]. Key benefits for men over 30 Maintain muscle mass: Sarcopenia is an age‑related musculoskeletal condition marked by reduced strength, mass, and quality. Combined with resistance training, creatine helps preserve muscle and strength. Cognition: A 2024 meta‑analysis including 681 participants found significant improvements in [6]: short‑term memory (effect size d = 0.15) processing speed executive functions under stress resilience to mental fatigue Energy production: Increases cellular phosphocreatine availability, enabling faster ATP regeneration—the body’s basic energy currency. Neuroprotection: Research suggests potential protection against neurodegenerative processes via mitochondrial stabilization in the brain [8]. Dosage & use 5 g daily (no loading phase needed) Ideally with water or a protein shake Timing: Any time of day—be consistent. 2. Vitamin D3: A Hormone Disguised as a Vitamin Vitamin D acts more like a hormone - it influences the expression of 1,000+ genes [5]. Vitamin D deficiency and its potential impact on testosterone are active research topics. Up to 80% of people in Northern Europe have suboptimal levels, especially in winter. Specific benefits for men Testosterone support: Recent studies suggest vitamin D affects male reproductive functions; deficiency is linked with infertility [2]. A 2024 meta‑analysis reported [7]: 20–25% increase in total testosterone in deficient men 15–20% improvement in free testosterone positive effects on libido and sexual function Immune system: Supports innate and adaptive immunity; 12% reduction in respiratory infection risk. Bone health: Prevents osteoporosis and fractures; 30–40% increase in calcium absorption. Cardiovascular health: Regulates blood pressure, protects endothelium, lowers heart‑attack risk. Mental health: Although there’s no direct effect on serum testosterone, vitamin D supplementation helped improve symptoms of hypogonadism [5]. Dosing & monitoring Maintenance: 2,000–4,000 IU daily If deficient: 5,000–10,000 IU daily for 8–12 weeks Form: D3 (cholecalciferol) is preferable to D2 With fat: Always take with a meal containing fats Synergy with vitamin K2: Helps direct calcium into bones and teeth and prevents deposition in vessel walls. Combined D3 + K2 supports bone and vascular health and reduces arterial calcification risk. Lab monitoring Target level: 100–150 nmol/L (40–60 ng/mL) for optimal health span Test: 25‑hydroxyvitamin D every 6 months Safety ceiling: Keep below 250 nmol/L (100 ng/mL) 3. Omega‑3 Fatty Acids (EPA/DHA): Anti‑Inflammatory Defense Modern Western diets have a severely distorted omega‑6:omega‑3 ratio (often 20:1 instead of an ideal 2–4:1). This imbalance fuels chronic inflammation—one of the main drivers of premature aging. Evidence‑based benefits Cardioprotection: A meta‑analysis of 13 studies with 127,762 participants found omega‑3s reduce cardiac mortality by 8% and all‑cause mortality by 3% [3]. Brain health: DHA accounts for up to 40% of polyunsaturated fatty acids in the brain [3]. Benefits include: protection against cognitive decline mood improvement (effects comparable to antidepressants at higher doses) support for neuroplasticity and neurogenesis Anti‑inflammatory effects: 10–15% reduction in CRP, and reductions in pro‑inflammatory cytokines IL‑6 and TNF‑α. Recovery & performance: Faster post‑exercise recovery; 20–30% reduction in DOMS [3]. Dosage & quality Dosage: Minimum: 1,000 mg EPA + DHA daily Optimal for active men: 2,000–3,000 mg daily Ratio: EPA:DHA = 2:1 or 3:1 for anti‑inflammatory effect Quality criteria: Triglyceride form — up to 3× better absorption than ethyl esters Molecularly distilled — free of heavy metals and toxins IFOS certification — independent purity testing Freshness: low peroxide value (< 5 meq O₂/kg) No fishy smell (indicates oxidation) Dark‑glass packaging and cold storage 💡 Tip: Reputable brands usually publish independent certificates for oxidation and purity on their websites. That’s your best assurance the supplement is truly safe and effective. Tracking Effectiveness Objective measures (after ~3 months): Blood tests: testosterone, CRP, lipid profile Body composition: DEXA scan or bioimpedance Performance tests: strength, endurance, cognitive batteries Subjective measures: Daily energy and vitality (1–10 scale) Sleep quality and recovery Mood and mental clarity Libido and sexual function Safety Notes & Contraindications Avoid: Proprietary blends without exact composition Mega‑doses without medical supervision Cheap products with questionable purity Combo products with unrealistic claims Interactions & cautions: Vitamin D: Use caution with kidney stones, sarcoidosis Omega‑3s: Increased bleeding risk with warfarin Creatine: Increased need for hydration Before starting any supplementation, consult your physician, especially if you take medications or have a chronic condition. Sources: https://link.springer.com/article/10.1186/1550-2783-4-6 https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0030-1269854 https://pmc.ncbi.nlm.nih.gov/articles/PMC8413259/ https://pubmed.ncbi.nlm.nih.gov/29704637/ https://academic.oup.com/jcem/article-abstract/97/4/1153/2833218 https://www.frontiersin.org/journals/nutrition/articles/10.3389/fnut.2024.1424972/full?t https://www.mdpi.com/2079-9721/12/10/228 https://www.mdpi.com/2072-6643/14/5/921

### 8 Blood Factors Every Man Over 30 Should Monitor

- URL: https://macromo.com/blog/news/8-blood-factors-every-man-over-30-should-monitor
- Published: 2025-10-01
- Category: news
- Author: Tereza Zaťková

After thirty, the male body starts to change in ways many men don’t notice until it’s too late. Testosterone gradually declines by about 1% per year after age 30, metabolism slows, and recovery worsens. Smart prevention and supplementation - grounded in solid science - can slow these changes. Most physicians test only basic parameters that reveal only severe deficiencies. For smarter prevention, it’s crucial to track subtle shifts that can affect energy metabolism and recovery. 8 key markers worth your attention 1. HbA1c + insulin - for early detection of insulin resistance and metabolic syndrome HbA1c reflects average blood glucose over the past 2-3 months. Even “prediabetic” values accelerate aging and raise cardiovascular risk. Optimal: below 5.4% (≤ 36 mmol/mol) Strategy: test every 3-6 months; consider continuous glucose monitoring (CGM) during high‑stress periods. Interventions: intermittent fasting, dietary adjustments, stress management. You can track HbA1c through our Blood Premium or Blood Ultra panels. 2. ApoB/ApoA1 ratio - a true indicator of heart risk Unlike standard cholesterol, this ratio provides a more accurate prediction. ApoB reflects the number of atherogenic particles; ApoA1 protects blood vessels. The American Heart Association recommends ApoB/ApoA1 as one of the most reliable predictors of cardiovascular risk [1]. Optimization: Mediterranean diet, omega‑3s, cardio, stress reduction. ApoB is included in our Blood Premium panel for a more precise cardiovascular risk assessment. 3. Hs‑CRP - index of systemic inflammation Chronic low‑grade inflammation (“inflamaging”) contributes to cancer, Alzheimer’s disease, and accelerated aging. Optimal: < 1.0 mg/L Worsened by: lack of sleep, frequent travel, alcohol, chronic stress To reduce : omega‑3s, curcumin with piperine, meditation. You’ll find CRP in our Blood Premium test package. 4. Vitamin D - the performance hormone Vitamin D influences immunity, mood, testosterone, strength, and sleep. Ideal: 75-125 nmol/L (30-50 ng/mL), aiming toward the upper end in winter Benefits of an optimal level: better mood, more resilient immunity, steadier hormones. Vitamin D testing is part of our Blood Premium and Blood Ultra. 5. Ferritin - optimizing iron stores Ferritin reflects the body’s iron reserves. Low values → fatigue, weakness High values → oxidative stress, inflammation Optimal: 100–200 μg/L Ferritin is included in our Blood Premium test panel. 6. Thyroid panel - TSH, T3, T4, rT3 Energy levels and cognitive performance aren’t determined by TSH alone. A complete panel (TSH, free T3, free T4, rT3) can uncover hidden issues. Our Blood Ultra panel provides comprehensive thyroid testing. Optimization: adequate selenium and zinc, stress reduction. 7. Hormonal profile - testosterone, SHBG, estradiol After thirty, testosterone declines by roughly 1-2% per year. This affects strength, energy, motivation, and metabolism. The Endocrine Society recommends regular monitoring and optimization of testosterone in aging men [2]. Optimal: Total testosterone: 550-850 ng/dL Free testosterone: 15-25 pg/mL SHBG: 20-50 nmol/L Estradiol: 20-30 pg/mL Natural optimization: resistance training, quality sleep, vitamin D, and zinc. All key male hormones are included in our Blood Men’s Hormones panel. 8. Advanced lipid profile - particle number and size Standard LDL measurement isn’t enough. What matters is the number of LDL particles (LDL‑P) and their size. The American Heart Association emphasizes advanced lipid testing for a more precise cardiovascular risk estimate [1]. Advanced lipid markers are included in our Blood Premium, and Blood Ultra panels. Key indicators: LDL‑P below 1000 nmol/L minimize small, dense LDL Triglyceride/HDL ratio below 2.0 Interventions: reduce sugar, intermittent fasting, cardio, niacin. Sources: https://www.ahajournals.org/doi/10.1161/CIR.0000000000001285 https://www.endocrine.org/clinical-practice-guidelines/testosterone-therapy https://hbr.org/2024/10/why-workplace-well-being-programs-dont-achieve-better-outcomes

### The Truth About Hormones: 8 Biomarkers Every Woman Over 30 Should Know

- URL: https://macromo.com/blog/news/the-truth-about-hormones-8-biomarkers-every-woman-over-30-should-know
- Published: 2025-10-01
- Category: news
- Author: Tereza Zaťková

After thirty, the female body begins preparing for one of life’s most significant hormonal shifts - perimenopause. This process can start around age 30 and last up to 15 years. Most women only notice changes once uncomfortable symptoms appear - irregular periods, fatigue, insomnia, or mood swings [4]. Most physicians test only basic parameters that reveal severe deficiencies. For smarter prevention, it’s crucial to track subtle changes in health that can affect hormones, energy metabolism, and recovery. Why hormone testing after 30 is essential 1. A silent revolution in the body Production of estrogen and progesterone begins to decline around age 25 and accelerates after 30. This can show up in: sleep and energy, body weight and composition, mood and cognitive function, fertility and cycle regularity, bone and cardiovascular health, libido and sexual health [1][5]. 2. Individual differences Every woman has a unique hormonal profile shaped by genetics, lifestyle, stress, and environment [3]. Two women of the same age can be in very different phases of hormonal health. 8 key biomarkers that reveal your hormonal status 1. Estradiol (E2) - the key female hormone Estradiol is the most active form of estrogen and a fundamental indicator of reproductive health. Optimal ranges: Follicular phase: 30–100 pg/mL Ovulation: 100–400 pg/mL Luteal phase: 80–300 pg/mL [5] Low levels can lead to irregular cycles, hot flashes, or sleep disturbances. Excessively high levels also signal imbalance and may present as painful periods, water retention, or mood changes. Supportive measures include healthy fats, phytoestrogens (flaxseed, soy), and stress management. 2. Progesterone - the calming hormone Balances estrogen’s effects and is key for quality sleep, mood, and fertility. Optimal: luteal phase 1.8–24 ng/mL; for successful conception > 10 ng/mL [5]. Low levels can manifest as PMS, anxiety, irregular periods, or difficulty conceiving. 3. Testosterone - the hormone of energy and libido Not just a “male” hormone - women need it for libido, strength, bone health, and mental performance. Optimal: total 15–45 ng/dL, free 0.3–2.0 pg/mL [5]. Low levels can cause fatigue, low mood, and decreased libido. Natural support: resistance training, adequate protein, quality sleep. 4. DHEA‑S - the hormone of youth and adaptability A precursor to estrogen and testosterone and a marker of adrenal vitality; it declines faster than many other hormones [3]. Optimal: Age 30–39: 45–270 μg/dL Age 40–49: 32–240 μg/dL Decline is accelerated by stress, poor sleep, or chronic inflammation. 5. Thyroid panel - TSH, T3, T4, rT3 Up to 20% of women have a thyroid disorder, and a TSH‑only screen often misses it [2]. A complete panel includes TSH, free T3/free T4, rT3, and antibodies (TPO, TgAb). Optimal TSH: 1.0–2.5 mIU/L. 6. Cortisol - the stress hormone Should follow a circadian rhythm - high in the morning, low in the evening. Optimal: morning 10–25 μg/dL, evening < 2 μg/dL. A balanced curve supports energy and healthy sleep; elevated evening levels → insomnia and weight gain. 7. Insulin & glucose - the foundation of hormonal balance Insulin resistance disrupts metabolism and sex‑hormone production [4]. Optimal: fasting glucose < 90 mg/dL, insulin < 5 μU/mL, HOMA‑IR < 1.5, HbA1c < 5.3%. Warning signs often include abdominal fat, post‑meal fatigue, or irregular cycles. 8. SHBG - sex hormone‑binding globulin Determines how much hormone is actually bioactive. Optimal range: 20–100 nmol/L [5]. High SHBG = fewer active hormones; low SHBG = higher risk of insulin resistance. When should you test hormones? Women with regular cycles: Day 3: FSH, LH, estradiol, testosterone Days 19–21: progesterone Perimenopause (35–50 years) : full hormonal panel every 6 months [1]. Irregular cycles / PCOS: more frequent testing of testosterone, insulin, and thyroid markers. When to see a specialist pronounced hormonal imbalances, multiple abnormal results, persistent symptoms despite “normal” tests, fertility problems, family history of hormone‑related cancers. Sources: https://menopause.org/professional-resources/position-statements https://www.endocrine.org/clinical-practice-guidelines https://pmc.ncbi.nlm.nih.gov/articles/PMC11230159/ https://www.health.harvard.edu/a_to_z/menopause-and-perimenopause-a-to-z https://www.mayoclinic.org/diseases-conditions/menopause/symptoms-causes/syc-20353397

### Apple Watch vs. Blood Tests: Why You Need Both to Optimize Your Health

- URL: https://macromo.com/blog/news/apple-watch-vs-blood-tests-why-you-need-both-to-optimize-your-health
- Published: 2025-10-01
- Category: news
- Author: Tereza Zaťková

Maybe your Apple Watch shows good sleep, healthy heart rate variability (HRV), and completed daily activity goals. You might think you’ve got your health under control. That might not be the case. Apple Watch is a great start - but it only sees what’s happening on the surface. Real health unfolds inside your body, at a level no wearable can capture. You can have perfect wrist metrics and still have hidden vitamin deficiencies, hormonal imbalances, or inflammatory processes that only blood tests can detect. True health optimization happens only when you combine both approaches [2][4]. Two Sides of the Health Coin External tracking - what Apple Watch can do heart rate and HRV sleep patterns activity level blood oxygen saturation (SpO₂) ECG and atrial fibrillation detection body‑temperature fluctuations [1][3] Internal biomarkers - what blood tests reveal hormonal profile (testosterone, estrogen, cortisol, thyroid) nutritional status (vitamin D, B12, iron, folate) inflammatory markers (hs‑CRP, IL‑6, TNF‑α) metabolic function (insulin, HOMA‑IR, lipid particles) immune balance and organ health [2][4] Why Apple Watch Alone Isn’t Enough Surface‑level data: Measurements through the skin → indirect indicators. No root‑cause analysis: An elevated heart rate might come from stress, anemia, or hyperthyroidism—the watch can’t tell which. No nutritional insight: It won’t reveal a vitamin D or iron deficiency. Blind to hormones: It can’t measure testosterone, estrogen, or the daily cortisol rhythm [1][3]. What Blood Tests Reveal That Apple Watch Can’t Metabolism: insulin, HOMA‑IR, HbA1c → HbA1c is included in our Blood Premium panel, which provides a complete look at metabolic efficiency and glucose control. Advanced lipid profile: particle number and size matter more than total cholesterol [4] → Available in the Blood Premium, and Blood Ultra panels Inflammation: hs‑CRP, IL‑6, TNF‑α—key predictors of long‑term health →CRP is covered within our Blood Premium and Blood Ultra tests, helping you detect silent inflammation early. Hormones: thyroid function, sex hormones, cortisol → Measured through our Blood Men’s Hormones / Blood Women's Hormones Panel for sex hormones and related markers, and the Blood Ultra panel for a full thyroid assessment. Nutrition: levels of vitamins, minerals, amino acids, fatty acids [2][4] → Included in our Blood Premium and Blood Ultra panels, providing insight into vitamin D, B12, folate, iron status, electrolytes, and key micronutrients Sources: https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.122.322389 https://www.nature.com/articles/s41746-024-01151-3 https://www.jmir.org/2023/1/e52444/ https://www.degruyterbrill.com/document/doi/10.1515/cclm-2023-0808/html

### What Your Doctor’s Standard Blood Tests Miss: 15+ Biomarkers You’re Rarely Tested For

- URL: https://macromo.com/blog/news/what-your-doctor-s-standard-blood-tests-miss-15-biomarkers-you-re-rarely-tested-for
- Published: 2025-10-01
- Category: news
- Author: Tereza Zaťková

Your doctor may have told you your bloodwork is “normal.” In reality, routine testing captures only a small slice of what’s going on - typically about 20 basic blood markers. Preventive medicine goes much deeper. It uses dozens of biomarkers that can reveal subtle deviations years before they would show up as “abnormal” on standard lab results [1][2]. Why doctors test only the minimum Reactive approach: conventional medicine waits for disease; functional medicine looks for optimal health [1]. Insurance limits: reimbursement usually covers only “medically necessary” tests, not optimization. Standard panel vs. comprehensive testing Typical panel (8–12 markers): complete blood count (CBC), basic metabolic panel (BMP), lipids, TSH, fasting glucose. Advanced testing (50+ markers): detailed lipid particles, full hormone profile, nutritional markers, inflammation, detoxification, and longevity predictors [1][3]. 7 key biomarker groups for a comprehensive view of health 1. Cardiovascular indicators Total cholesterol, HDL, LDL, triglycerides - core lipid profile showing the balance between protective and risk lipids. ApoB - counts atherogenic particles; a more reliable risk marker than LDL‑C alone. Lp(a) - genetically determined atherosclerosis risk factor. NT‑proBNP - marker of cardiac strain and heart‑failure risk [3]. Overall cardiovascular indicators are comprehensively covered in the Blood Premium panel. 2. Metabolism & diabetes risk Plasma/fasting glucose - baseline glycemia. HbA1c - long‑term average blood sugar. HbA1c is assessed in Blood Premium panel. Insulin resistance (HOMA‑IR) - combines glucose and insulin to estimate insulin sensitivity [4]. Urea and uric acid - relate to protein/purine metabolism; indicators of metabolic load. Urea and uric acid are included in the Blood Premium and Blood Essential panels. 3. Inflammatory & immune markers CRP (high‑sensitivity hs‑CRP) - key marker of systemic inflammation and cardiovascular risk. CRP is included in Blood Premium and Blood Ultra panels. CBC (WBC, differential) - shows immune activity, infection, or inflammatory processes. Homocysteine - linked to higher cardiovascular risk and B‑vitamin deficiency [5]. Homocysteine is part of the Blood Essential , Blood Premium and Blood Ultra panels. 4. Hormonal health TSH, free T4 - primary indicators of thyroid function. These markers are included in the Blood Essential , Blood Premium and Blood Ultra panels. Total & free testosterone, SHBG, FAI - male hormonal health, metabolism, and vitality. These hormonal biomarkers are tested in the Blood Men's Hormones panel. Estradiol, progesterone, FSH, LH - core markers of the female hormonal cycle and fertility [2]. Vitamin D - hormonally active vitamin crucial for immunity and bone health. Vitamin D is included in Blood Premium or Blood Ultra. 5. Nutritional & biochemical markers Vitamin B12 and folate (B9) - essential for hematopoiesis and the nervous system. Ferritin, iron, transferrin - iron stores and oxygen transport status. Calcium, magnesium, phosphate, sodium, potassium, chloride - minerals vital for nerves, muscles, and metabolism. Albumin, total protein, serum protein electrophoresis - reflect nutritional status and liver function. This group of nutritional markers is broadly covered in the Blood Premium and Blood Ultra panels. 6. Liver, kidneys & detoxification ALT, AST, ALP, GGT, bilirubin - standard liver enzyme panel. Creatinine - marker of kidney function. Glutathione (GSH) - the body’s master antioxidant (included in advanced programs). Liver and kidney biomarkers are available in Blood Premium and Blood Ultra panels. 7. Longevity & cellular health Telomeres (advanced programs) - telomere length as an indicator of biological age. Homocysteine (again in a longevity context) - optimizing < 7 μmol/L is associated with lower cardiovascular risk and better methylation [5]. Sources: https://my.clevelandclinic.org/departments/functional-medicine https://www.ifm.org/ https://www.mdpi.com/journal/jcm/special_issues/Cardiovscular_Biomarkers https://www.jmcp.org/doi/10.18553/jmcp.2025.31.6-a.s1 https://academic.oup.com/clinchem/article/70/2/355/7505352 https://www.rupahealth.com/post/9-most-commonly-ordered-functional-medicine-cardiovascular-labs

### Genetics and Metabolism: How to Adapt Your Diet and Exercise for Optimal Results?

- URL: https://macromo.com/blog/news/genetics-and-metabolism-how-to-adapt-your-diet-and-exercise-for-optimal-results
- Published: 2025-04-28
- Category: news
- Author: Lucia Drobná

Introduction Genetics plays a key role in many aspects of our health, including how efficiently our metabolism works. The speed at which we burn calories, how our body processes fats, or how we respond to different types of exercise is influenced, among other things, by genetic factors. Scientific studies confirm that genetic variability can affect weight loss ability, muscle gain, and nutrient absorption. In this article, we’ll explore how genetics affects metabolism and how to adapt both diet and exercise accordingly. 🧬 How Does Genetics Affect Metabolism? Metabolism is the sum of biochemical reactions that convert food into energy. Its rate is influenced by factors such as age, sex, physical activity, environment, and of course genetics. Some people have a genetic profile that supports faster calorie burning even at rest, while others are genetically predisposed to a slower metabolism. Genetics also affects which nutrients our body needs, how efficiently we can process them, and how certain enzymes function. Sources: Frontiers in Nutrition, 2024 https://www.clinicaterapeutica.it/2023/174/6-Suppl/23_834_Madeo.pdf https://doi.org/10.1093/hmg/ddv263 https://academic.oup.com/hmg/article/24/R1/R93/671706 https://doi.org/10.1080/10408399309527631 https://www.cambridge.org/core/services/aop-cambridge-core/content/view/C314352C57A9018EE9794D681478BE48/S0001566000004906a.pdf/resting-metabolic-rate-in-monozygotic-and-dizygotic-twins.pdf ⚖️ Weight Loss and Genetics The body’s response to diet or exercise is not just a matter of willpower—genetic predispositions can influence how the body responds to different diets and types of physical activity. That’s why it’s important to remember that a diet or workout plan that works for one person may not be equally effective for another. However, lifestyle still plays a stronger role in weight loss than genetics—it just needs to be tailored to each person’s unique needs. Source: Human Genomics, 2024 🌾 Allergies and Intolerances: Genetic Background Food allergies These arise as an overreaction of the immune system to normally harmless substances called allergens. Genetics influences the strength of the immune response, and if allergies run in the family, the likelihood of inheriting them is higher. Intolerances (e.g., lactose, gluten) Lactose intolerance is linked to a deficiency or dysfunction of the lactase enzyme, which breaks down lactose into simpler sugars. Celiac disease, on the other hand, is an autoimmune condition strongly associated with HLA-DQ2 and HLA-DQ8 genes. Sources: Nutrients, MDPI https://pmc.ncbi.nlm.nih.gov/articles/PMC11724255/ ☕ Metabolism of Caffeine and Alcohol Certain genetic variants affect how quickly your body breaks down caffeine and alcohol. This explains why some people can drink coffee late at night without trouble, while others are sensitive even to small amounts. Similar genetic differences apply to alcohol metabolism and tolerance. Sources: Genetics of caffeine consumption and responses to caffeine, PubMed Central® The Genetics of Alcohol Metabolism, PubMed Central® https://doi.org/10.3390/nu12103118 https://www.mdpi.com/2072-6643/12/10/3118 https://pmc.ncbi.nlm.nih.gov/articles/PMC11515775/ https://pmc.ncbi.nlm.nih.gov/articles/PMC4037586/ 🍊 Nutrient, Vitamin, and Mineral Absorption Genetics influences how well the body absorbs nutrients like vitamin D, iron, or vitamin B. Some people have genetic advantages that allow them to absorb certain substances more efficiently. Others, however, may suffer from deficiencies that affect immunity, disease risk, energy, or mood. Sources: Nutrients, MDPI https://pmc.ncbi.nlm.nih.gov/articles/PMC10119805/ https://www.sciencedirect.com/science/article/abs/pii/S1769721214001931?via%3Dihub https://www.jstage.jst.go.jp/article/internalmedicine1992/41/10/41_10_762/_pdf/-char/en https://pmc.ncbi.nlm.nih.gov/articles/PMC7859200/ 🏋️ How to Adapt Exercise to Your Genetics? Many factors influence physical performance—sex, age, nutrition, and also genetics. Your genetic profile not only affects metabolic rate but also the dominant type of muscle fibers, recovery ability, and how effective different training methods are. Endurance training Genetics can influence performance in aerobic activities such as running or cycling. This type of exercise supports fat burning and strengthens the cardiovascular system. Strength training People with a genetic predisposition for muscle growth will gain muscle mass faster through resistance training. Still, strength training is highly beneficial for everyone—more muscle = higher resting metabolism = more calories burned even at rest. HIIT (High-Intensity Interval Training) For those who burn fat efficiently during short bursts of effort, HIIT is an ideal choice. It stimulates the so-called EPOC effect—increased oxygen consumption and calorie burning even after exercise. HIIT also improves VO2 max, one of the key indicators of longevity. Sources: Journal of Sports Medicine https://pubmed.ncbi.nlm.nih.gov/29691431/ https://pmc.ncbi.nlm.nih.gov/articles/PMC5983157/ https://bjsm.bmj.com/content/46/8/555.long https://pmc.ncbi.nlm.nih.gov/articles/PMC10721680/ https://pmc.ncbi.nlm.nih.gov/articles/PMC11035584/

### Foods to Eat (and Avoid) for a Healthier Gut Microbiome

- URL: https://macromo.com/blog/news/foods-to-eat-and-avoid-for-a-healthier-gut-microbiome
- Published: 2025-04-04
- Category: news
- Author: Lucia Drobná

Introduction Your gut microbiome affects not only digestion but also your immune system, energy levels, and mental health. What you eat can either support the growth of beneficial bacteria or lead to an imbalance that shows up as bloating, fatigue, or weakened immunity. In this article, we’ll look at foods that benefit gut flora and those you’re better off avoiding. Best Foods for a Healthy Gut 1. Fermented foods (probiotics) They contain live bacteria that help restore the gut microbiome. Examples: Yogurt, kefir, kimchi, sauerkraut, miso, tempeh, kombucha. 2. Foods rich in prebiotics and fiber Prebiotics serve as food for beneficial gut bacteria. The main source is fiber. Examples: Fruits, vegetables, legumes, whole grains, nuts. 3. Foods rich in polyphenols Polyphenols support the growth of beneficial gut bacteria and have antioxidant effects. Examples: Dark chocolate, green tea, red grapes, berries, coffee, nuts. 4. Healthy fats Omega-3 fatty acids support gut health and the diversity of gut flora. Examples: Salmon, sardines, nuts, seeds, olive oil. Foods to Avoid Sugary foods and white sugar Sugar feeds bad bacteria and yeast, disrupting the balance of the gut microbiome. Avoid: sweets, cakes, pastries, white sugar, sugary drinks. Note: This also includes things like regular jam, fruit yogurts, breakfast cereals, and even juices. Artificial sweeteners They can negatively affect gut bacteria and cause digestive problems. Avoid: aspartame, sucralose, saccharin (often in diet sodas). Note: Artificial sweeteners are also found in foods that look “healthy,” often labeled as “zero sugar,” such as fitness bars, light sodas, and yogurts. Fried and processed foods They contain unhealthy trans fats that damage the gut microbiome. Avoid: fast food, French fries, packaged snacks. Note: Ultra-processed foods also include seemingly “healthy” options like white bread, ham, and sausages. Alcohol and excess caffeine Alcohol disrupts gut balance, and too much caffeine can irritate the digestive system. Limit: beer, wine, spirits, excessive amounts of coffee. Dairy and gluten (for sensitive individuals) Some people have trouble digesting dairy and gluten, which may lead to gut inflammation. If sensitive, limit: milk, cheese, white bread, pasta. How to Support a Healthy Gut Microbiome for Better Mental Health? Eat foods rich in prebiotics – onions, garlic, leeks, apples, bananas. Consume probiotics – yogurt, kefir, kimchi, sauerkraut, miso. Limit processed foods – sweets, white sugar, artificial sweeteners. Reduce stress – meditation, yoga, deep breathing. Get enough sleep – poor sleep disrupts gut microbiome balance. Test your gut microbiome – find out if you have the right balance of bacteria. Gut Microbiome Testing – Why Is It Important? Everyone’s microbiome is unique, and its composition changes depending on diet, stress, antibiotic use, and other factors. A home gut microbiome test can help you find out: Which bacteria dominate your gut. Whether you have enough beneficial microorganisms that support mental wellbeing. How to adapt your diet and lifestyle for better gut flora balance. Your test results will enable a more targeted approach to improving gut health.

### The Connection Between the Gut Microbiome and Mental Health

- URL: https://macromo.com/blog/news/the-connection-between-the-gut-microbiome-and-mental-health
- Published: 2025-04-04
- Category: news
- Author: Lucia Drobná

Introduction Did you know that your gut and brain are in constant communication? This relationship is called the gut-brain axis, and it influences not only digestion but also our mood, stress levels, anxiety, and even depression. The gut microbiome—the billions of bacteria living in your intestines—plays a crucial role in mental health because it can affect the production of important neurotransmitters. In this article, we’ll explore how gut bacteria influence the brain, which foods support a healthy gut flora, and what you can do to improve your mental wellbeing. How Does the Gut Affect the Brain? Your gut and brain are connected through several mechanisms: 1. The vagus nerve – the superhighway between the gut and brain The vagus nerve is one of the longest nerves in the body and enables communication between the gut and brain. Research shows that the gut microbiome itself can send signals directly to the brain, influencing mood. A healthy gut microbiome sends positive signals, which support good mood and mental wellbeing. 2. Gut bacteria influence the production of “happiness hormones” Serotonin – Up to 90% of serotonin, the happiness hormone, is produced in the gut, not the brain. Dopamine – Plays a key role in motivation and the feeling of reward. GABA – A neurotransmitter that helps regulate stress and anxiety. 3. Inflammation and its impact on mental health The gut microbiome is also linked to the immune system. Poor eating habits, stress, and antibiotics often lead to gut microbiome imbalance. This not only affects digestion but can also trigger inflammation. Because of the gut-brain connection, inflammation can negatively impact mood, contributing to chronic fatigue, anxiety, or depression. How to Support a Healthy Gut Microbiome for Better Mental Health? Eat fiber-rich foods – fruits, vegetables, whole grains, legumes. Consume probiotics – yogurt, kefir, kimchi, sauerkraut, miso, other fermented foods. Limit processed foods – sweets, white sugar, artificial sweeteners. Reduce stress – meditation, yoga, physical activity, deep breathing. Prioritize quality sleep – poor sleep disrupts gut microbiome balance. Test your gut microbiome – find out if you have the right balance of bacteria. Gut Microbiome Testing – Why Is It Important? Everyone’s microbiome is unique, and its composition changes depending on diet, stress, antibiotic use, and other factors. A home gut microbiome test can help you discover: Which bacteria dominate in your gut. Whether you have enough beneficial microorganisms that support mental wellbeing. How to adapt your diet and lifestyle for a healthier gut flora balance. The test results allow for a more targeted approach to improving gut health. Sources Rhee SH, Pothoulakis C, Mayer EA. Principles and clinical implications of the brain-gut-enteric microbiota axis. Nat Rev Gastroenterol Hepatol. 2009 May;6(5):306-14. doi: 10.1038/nrgastro.2009.35. PMID: 19404271; PMCID: PMC3817714. https://pmc.ncbi.nlm.nih.gov/articles/PMC3817714/ Carabotti M, Scirocco A, Maselli MA, Severi C. The gut-brain axis: interactions between enteric microbiota, central and enteric nervous systems. Ann Gastroenterol. 2015 Apr-Jun;28(2):203-209. PMID: 25830558; PMCID: PMC4367209. https://pmc.ncbi.nlm.nih.gov/articles/PMC4367209/ Valles-Colomer, M., Falony, G., Darzi, Y. et al. The neuroactive potential of the human gut microbiota in quality of life and depression. Nat Microbiol 4, 623–632 (2019). https://doi.org/10.1038/s41564-018-0337-x Strandwitz P. Neurotransmitter modulation by the gut microbiota. Brain Res. 2018 Aug 15;1693(Pt B):128-133. doi: 10.1016/j.brainres.2018.03.015. PMID: 29903615; PMCID: PMC6005194. https://pubmed.ncbi.nlm.nih.gov/29903615/ Bremner JD, Moazzami K, Wittbrodt MT, Nye JA, Lima BB, Gillespie CF, Rapaport MH, Pearce BD, Shah AJ, Vaccarino V. Diet, Stress and Mental Health. Nutrients. 2020 Aug 13;12(8):2428. doi: 10.3390/nu12082428. PMID: 32823562; PMCID: PMC7468813. https://pmc.ncbi.nlm.nih.gov/articles/PMC7468813/ Kumar A, Pramanik J, Goyal N, Chauhan D, Sivamaruthi BS, Prajapati BG, Chaiyasut C. Gut Microbiota in Anxiety and Depression: Unveiling the Relationships and Management Options. Pharmaceuticals (Basel). 2023 Apr 9;16(4):565. doi: 10.3390/ph16040565. PMID: 37111321; PMCID: PMC10146621. https://pmc.ncbi.nlm.nih.gov/articles/PMC10146621/ Al Bander Z, Nitert MD, Mousa A, Naderpoor N. The Gut Microbiota and Inflammation: An Overview. Int J Environ Res Public Health. 2020 Oct 19;17(20):7618. doi: 10.3390/ijerph17207618. PMID: 33086688; PMCID: PMC7589951. https://pmc.ncbi.nlm.nih.gov/articles/PMC7589951/

### ALP - Alkaline phosphatase

- URL: https://macromo.com/blog/blood-liver-and-kidney/alp
- Published: 2024-02-21
- Category: blood-liver-and-kidney
- Author: Barbora Hamernikova

Summary Alkaline phosphatase (ALP) is an enzyme located mainly in the liver, bile ducts, bones, and kidneys, and it's instrumental in processes involving protein metabolism. Overview Increased levels of ALP in the bloodstream often point towards possible liver or bone diseases. Certain conditions such as liver cirrhosis, gallstones, bone disorders, or kidney disease can lead to a surge in ALP levels as the enzyme leaks from the affected cells into the bloodstream. In liver diseases, ALP is often used with other liver function tests to assess liver function and identify conditions like cholestasis or biliary obstruction. If high ALP levels are caused by liver problems, the liver function tests will be abnormal. If ALP is elevated and other liver tests are normal, the problem may be a bone disorder. However, additional tests are required for the proper diagnosis. Certain medications and excessive alcohol consumption can also cause an elevation in ALP levels. [1,2] What should you know about this biomarker? Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests we use µkat/l (microkatal per liter). Optimal ALP levels may vary depending on age, sex, and individual characteristics and can also be affected by medications and other factors. Normal ALP levels for healthy adults typically range up to 2.15 µkat/l (microkatal per liter). [3] Your blood test could indicate one of several potential outcomes: When your ALP levels are lower, it is usually not something to worry about, however, if you notice unusual symptoms, do reach out to your healthcare provider. Low ALP levels are less common but may indicate zinc deficiency, malnutrition, pernicious anemia, thyroid disease, Wilson disease, or hypophosphatasia. When your ALP levels are within the reference range, this is a good sign. When your ALP levels are above the reference range, it could signify issues with your bones or liver, like cirrhosis, hepatitis, bile duct obstruction, Paget disease, etc. Please get in touch with your healthcare provider for a comprehensive evaluation. Genetics Previous studies have shown that mutations in certain genes can lead to abnormal levels of ALP, resulting in various health conditions. Mutations in the ALPL gene can lead to several bone diseases like hypophosphatasia, characterized by abnormally low levels of ALP. Other genes, such as those involved in liver function or bone growth, can also affect ALP levels. [4] Moreover, twin and family studies have revealed that genetic factors can account for a substantial portion of the variation in serum ALP levels. While lifestyle and environmental factors also play a role, these findings affirm that genetics is a significant determinant of ALP levels in the human body. [5,6] Recommendations If alkaline phosphatase (ALP) levels are outside the optimal range, it may indicate several health conditions. Elevated levels of ALP can indicate liver disease, bile duct obstruction, or bone disorders. [1] : Routine liver function tests can help monitor ALP levels and detect any anomalies that might indicate a problem early. A balanced diet rich in vitamins and minerals, particularly Vitamin D and calcium, can support bone health and help maintain normal ALP levels. Over-consumption of alcohol can damage the liver and cause elevated ALP levels. It's important to drink in moderation or abstain altogether. High cholesterol can lead to bile duct obstruction, which may result in increased ALP levels. Regular cholesterol checks and a diet low in saturated fats can help control cholesterol levels. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### AST - Aspartate aminotransferase

- URL: https://macromo.com/blog/blood-liver-and-kidney/ast
- Published: 2024-02-21
- Category: blood-liver-and-kidney
- Author: Barbora Hamernikova

Summary Aspartate aminotransferase (AST) is an enzyme found in various tissues, primarily in the liver and heart. AST plays a crucial role in the metabolism of amino acids, specifically the transfer of an amino group from aspartate to alpha-ketoglutarate. Overview Aspartate aminotransferase (AST) is an enzyme predominantly found in the liver and heart but also in smaller amounts in muscles and kidneys. It plays a significant role in the metabolism of amino acids. Elevated levels of AST in the blood often suggest damage to the liver or heart. Conditions such as hepatitis, cirrhosis, pancreatitis, diabetes, or heart disease can increase AST levels as the enzyme leaks out of damaged cells into the bloodstream. Certain medications and alcohol abuse can also elevate AST levels. [1] What should you know about this biomarker? Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests we use µkat/l (microkatal per liter). AST is often included in liver function panels alongside other liver enzymes like ALT (alanine aminotransferase) and GGT (gamma-glutamyl transferase). You may get an AST test as part of the routine blood test panel, or if you experience symptoms like fatigue, weakness, jaundice (yellowing of skin and eyes), lack of appetite, nausea, vomiting, swelling of your belly or ankles, dark urine, or itching. It can also be used to monitor liver problems. The optimal range for AST levels may differ depending on the specific testing facility or laboratory conducting the test. However, in general, healthy men have AST levels below 0.85 µkat/l (microkatal per liter), and healthy women have AST levels below 0.60 µkat/l. Your blood test can show distinct result possibilities: Your AST levels are within the reference range. Maintain liver health by avoiding alcohol abuse, maintaining a balanced diet, and regular exercise. Your AST levels are elevated, which could indicate liver or heart damage. Please consult your healthcare provider. Genetics Aspartate aminotransferase (AST) levels in the blood can be influenced by various factors. However, evidence suggests that genetic factors can play a role in determining AST levels. Several genetic studies have identified specific genetic variants associated with AST levels. These genetic loci are often found in or near genes involved in liver function, lipid metabolism, and other biological processes. [2,3] For example, a genome-wide association study (GWAS) conducted in 2021 identified more than 300 new genetic variants connected to liver enzyme concentrations in the bloodstream. [4] Recommendations If the aspartate aminotransferase (AST) level is outside the optimal range, it may indicate liver disease, heart disease, or the use of certain medications. Here are some recommendations you might consider [1] : If your AST levels are elevated, it's important to consult with a healthcare provider. If you're diagnosed with a condition such as liver or heart disease that results in high AST levels, consistently tracking your AST levels and conducting relevant tests is crucial. If your current medications are known to elevate AST levels, your healthcare provider may contemplate revising your medication regimen. It's important to remember that any changes to your medications should be supervised by a healthcare professional. Lifestyle factors like excessive alcohol consumption or a poor diet can contribute to high AST levels. By reducing alcohol intake, improving dietary habits, and incorporating regular physical activity, you can help decrease AST levels and enhance the health of your liver and heart. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### GGT - Gamma-glutamyl transferase

- URL: https://macromo.com/blog/blood-liver-and-kidney/ggt
- Published: 2024-02-21
- Category: blood-liver-and-kidney
- Author: Barbora Hamernikova

Summary Gamma-glutamyl transferase (GGT) is an enzyme found in many organs throughout the body, with the highest concentrations in the liver. GGT plays a key role in the body's transport of amino acids and peptides into cells. Overview Gamma-glutamyl transferase (GGT) is an enzyme primarily found in the liver, playing a vital role in the metabolism and transport of amino acids. Elevated GGT levels in the blood often indicate liver or bile duct damage, potentially due to conditions like hepatitis, cirrhosis, or chronic alcohol abuse. Otherwise, it can be caused by pancreatitis, diabetes, congestive heart failure, or it can be a side effect of certain medications. It is the most sensitive liver enzyme test for finding bile duct issues. However, a GGT test can't diagnose the specific cause of liver disease. GGT is commonly included in liver function panels alongside other liver enzymes like ALT (alanine aminotransferase) and AST (aspartate aminotransferase). Certain medications can also increase GGT levels. [1] If you have a condition causing high levels of GGT, you may experience symptoms like fatigue, weakness, jaundice (yellowing of skin and eyes), loss of appetite, abdominal pain, nausea, and vomiting. What should you know about this biomarker? Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests we use µkat/l (microkatal per liter). Optimal GGT levels can vary depending on age, gender, and overall health. Generally, healthy adult men have GGT levels below 1.19 µkat/l (microkatal per liter), while healthy adult women have levels below 1.10 µkat/l, but the results can vary based on the laboratory. [2] Your blood test could indicate one of several potential outcomes. Your GGT levels are within the reference range. Maintain liver health by limiting alcohol, avoiding harmful substances, and maintaining a balanced diet and regular exercise. If your GGT levels are elevated, it potentially indicates liver or bile tract damage. Please consult your healthcare provider. Genetics Gamma-glutamyl transferase (GGT) levels can be influenced by various factors, including alcohol consumption, medication use, and liver disease. However, research has also suggested a genetic component to GGT levels. Thanks to previously conducted twin studies and now genome-wide association studies, it has been found that changes in the levels of not only GGT but also AST and ALT are influenced by genetics. However, the interplay between environmental and genetic factors has yet to be fully determined. [3,4] Recommendations If your gamma-glutamyl transferase (GGT) levels are outside of the optimal range, it may indicate liver disease, alcohol misuse, or the use of certain medications. Here are some recommendations [1] : If your GGT levels are elevated, it's important to consult with a healthcare provider. They can help determine the cause of the elevated levels and recommend appropriate treatment. If the elevated GGT levels are due to alcohol misuse, reducing or abstaining from alcohol can help lower GGT levels. Regular exercise and a healthy diet can also support overall liver health. If you smoke, consider quitting. Cigarette smoking is significantly associated with increased levels of GGT and ALT. If you're taking medications known to increase GGT levels, your healthcare provider may consider adjusting your medication regimen. However, this should only be done under the guidance of a healthcare provider. If the cause of the elevated GGT levels is unclear, your healthcare provider may recommend further testing. If you have a condition that causes elevated GGT levels, such as liver disease, regularly monitoring your GGT levels and other liver function tests can help manage your condition and monitor your response to treatment. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Lp(a) - Lipoprotein (a)

- URL: https://macromo.com/blog/blood-heart-health/lp-a
- Published: 2024-02-21
- Category: blood-heart-health
- Author: Barbora Hamernikova

Summary Lipoprotein(a), abbreviated as Lp(a), is a type of lipoprotein found in the blood. Elevated Lp(a) levels are associated with an increased risk of cardiovascular diseases, such as heart attacks and strokes. Lp(a) levels are predominantly determined by genetics and, unlike other lipoproteins, are not significantly influenced by lifestyle or diet. Overview Lipoproteins carry cholesterol and other fats through your bloodstream to your cells. The two main groups of lipoproteins are called HDL (high-density lipoprotein) or "good" cholesterol and LDL (low-density lipoprotein) or "bad" cholesterol. Lp(a) is composed of a cholesterol-rich LDL particle bound to a protein called Apolipoprotein(a), abbreviated ApoA . Elevated Lp(a) levels can lead to the buildup of cholesterol in the arterial walls, causing atherosclerosis - a condition where the arteries become narrowed and hardened due to plaque accumulation. [1] Lipoprotein(a) particles are stickier than other types of LDL particles, so they may be more likely to cause blockages and blood clots in your arteries. What should you know about this biomarker? Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use nmol/l (nanomoles per liter), but you can also find the values in mg/dl (milligrams per deciliter). It is not a routine screening test and is generally performed if you are already believed to be at greater risk of cardiovascular problems. Routine cholesterol tests may show that your LDL cholesterol level is "healthy," but if a large percentage of your LDL cholesterol is carried by lipoprotein (a) particles, your risk for heart disease and stroke could still be high. Optimal levels are individual, but in general a level below 75 nmol/l is desirable. Elevated Lp(a) can be genetically determined and may signify cardiovascular risks, while lower values are often linked to healthier arteries. Your blood test could indicate one of several potential outcomes. Your Lp(a) levels fall within the reference range. It is generally considered beneficial for heart health. No specific intervention is required, but it is beneficial to maintain a healthy lifestyle. Your Lp(a) levels are above the reference range, indicating a higher risk of heart disease, even if your cholesterol levels are normal and you are healthy. Consult with your healthcare provider for guidance. Genetics Lp(a) levels are mainly determined by genetics. Certain genetic variations in the LPA gene, which encodes the apolipoprotein(a) protein, can lead to higher levels of Lp(a). A family history of high Lp(a) or early heart disease could indicate genetically elevated Lp(a) levels. [1] A recent study found that 80-90% of Lp(a) levels are influenced by genetics, and this study also highlighted the significant differences in levels between individual people (up to 1000-fold). [1,2] Another study focused on the association of single nucleotide polymorphisms (SNPs) of the LPA and IL1F9 genes with coronary artery calcification, an important predictor of coronary artery disease. A significant association between Lp(a) levels and coronary artery calcification was also observed. [3] Recommendations Monitoring Lp(a) levels can be an important aspect of assessing cardiovascular risk, especially in individuals with a family history of cardiovascular diseases: If you have a family history of heart disease or if your Lp(a) levels are elevated, it is advisable to consult a healthcare professional. While Lp(a) levels are primarily determined by genetics and are not significantly influenced by lifestyle, maintaining a healthy lifestyle is still important for overall heart and vascular health in your body. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### CRP - C-Reactive protein

- URL: https://macromo.com/blog/blood-inflammation/crp
- Published: 2024-02-21
- Category: blood-inflammation
- Author: Barbora Hamernikova

Summary C-reactive protein (CRP) is a protein produced by the liver and is a crucial biomarker in assessing inflammation in the body. Elevated levels of CRP indicate an inflammatory response, which could be due to infections, autoimmune diseases, or other medical conditions. Overview CRP is an acute-phase protein, meaning its levels in the blood surge in response to inflammation. When there is an inflammation in the body, the liver produces more CRP, which can bind to the surface of dying or dead cells and activate the immune system to dispose of them. [1] CRP tests can show whether you have inflammation in your body and to what extent, but they cannot show what is causing it or which part of your body is inflamed. To make a diagnosis, your provider will look at your CRP results and the results of other tests, your symptoms, and your medical history. CRP tests can be useful not only in diagnosing certain conditions but also in monitoring chronic inflammation. What should you know about this biomarker? Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use mg/l (milligrams per liter). Optimal CRP levels are typically below 5 mg/l, with higher levels indicating a pathological condition or its increased risk. Healthcare professionals must interpret CRP levels within the context of an individual's overall health and other risk factors. [2] Your blood test results can fall into one of five potential categories: [6] Normal CRP levels are below 3 mg/l and can be seen in healthy adults. The CRP levels of 3 to 10 mg/l can be considered normal or minorly elevated. It can indicate pregnancy, obesity, smoking, depression, or cardiovascular risk. Moderately elevated CRP is 10 to 100 mg/l and can be observed in autoimmune conditions, cancers, heart attacks, etc. The marked elevation is considered to be CRP more than 100 mg/l and can be seen in acute bacterial or viral infections or significant trauma. CRP greater than 500 mg/l is severely elevated and usually points to a severe acute bacterial infection. Genetics It has been observed that CRP is a heritable trait and that genetic factors explain the variation in serum CRP levels along with environmental factors such as gender, smoking, and obesity. Furthermore, it has been shown that CRP levels can vary among different ethnic populations, suggesting an ethnically heterogeneous genetic background of CRP levels. [3] Another study also identified several SNPs (single nucleotide polymorphisms) that influence the circulating CRP levels. However, none have been linked to the changes in blood pressure. [4] Recommendations If your levels of CRP marker are not within the recommended range, it is important to take some steps [5] : Consume a balanced diet with plenty of fruits, vegetables, whole grains, and lean proteins. If you are overweight, lose excess weight to help reduce CRP levels. Engage in moderate exercise on a daily basis, it could be regular walking sessions, jogging or swimming, as it can have anti-inflammatory effects. Reduce your intake of foods high in sugar and processed carbohydrates, as they can increase inflammation. If you smoke, it is recommended to stop. Smoking is known to increase inflammation. Engage in stress-reducing activities such as meditation, yoga, or spending time with loved ones. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### ApoB - Apolipoprotein B

- URL: https://macromo.com/blog/blood-heart-health/apob
- Published: 2024-02-21
- Category: blood-heart-health
- Author: Barbora Hamernikova

Summary Apolipoprotein B (ApoB) is a crucial protein responsible for transporting cholesterol and other fats throughout the body. Elevated ApoB levels, associated with high LDL (Low-Density Lipoprotein) concentrations, can lead to plaque buildup in arteries, increasing cardiovascular disease risk and atherosclerosis. Overview ApoB plays a significant role in the body's lipid metabolism. It is a primary component of several lipoproteins that transport cholesterol and other lipids through the bloodstream. This group of lipoproteins includes for example chylomicrons, LDL, IDL, or VLDL particles. Each ApoB carries one of the ‘’bad’’ lipoproteins, so the test is a good measure of the total amount of lipoproteins or ‘’bad’’ cholesterol in the blood. Elevated levels of ApoB, especially when associated with higher LDL particle concentrations, are the primary drivers of plaques that cause atherosclerosis It can lead to heart disease, stroke, and other complications after decades of progression. [1,3] What should you know about this biomarker? Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use g/l (grams per liter), but you can also find the levels given in, mg/dl (milligrams per deciliter) elsewhere. Optimal levels of APOB in the blood depend on individual risk factors for heart disease, such as age, sex, family history, and lifestyle. Generally, healthy adults should aim for an APOB level of less than 0.9 g/l. Higher APOB levels are associated with an increased risk of heart disease. [2] ApoB levels should be measured in conjunction with traditional lipid markers (e.g., total cholesterol, LDL cholesterol, HDL cholesterol, triglycerides) to more comprehensively assess cardiovascular risk. Some healthcare providers believe it's even more accurate at predicting your cardiovascular risk than a regular lipid panel. Your blood test can show different result possibilities: Your ApoB levels are low. It is generally a positive sign for heart health. However, if you have any questions, please consult your healthcare provider. Your ApoB levels are within the reference range. It is an indicator of low cardiovascular risk. Your ApoB levels are elevated. This may pinpoint a potential risk for heart disease. Please consult your healthcare provider. Genetics Certain genetic variations can affect the production of ApoB and, in turn, alter the concentration of cholesterol and other fats in the body. If ApoB levels are increased due to one's genetics, the risk of heart problems increases, and life expectancy is shortened. Furthermore, if LDL cholesterol and triglyceride levels are elevated the risk is even higher. [3] One research described more than 20 mutations in the APOB gene. That led to familial hypobetalipoproteinemia, a condition characterized by abnormally low plasma concentrations of apoB and LDL cholesterol. [4] Recommendations If your results of ApoB are outside the optimal range, it is important to find out the cause, and make some lifestyle changes [5] : It is essential to consult a healthcare professional if you suspect any issues related to heart disease or stroke, or if your ApoB levels fall outside the normal range. Opt for a heart-healthy diet rich in fruits, vegetables, whole grains, and lean proteins. Reduce intake of saturated and trans fats. Exercise regularly. Physical activity contributes to overall health and helps keep your heart in good shape. If you smoke, take steps to quit, as smoking is a major risk factor for heart disease. If you have other health conditions like diabetes or high blood pressure, ensure they are well-managed, as they can influence lipid levels and heart health. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Free Testosterone

- URL: https://macromo.com/blog/blood-sexual-health/free-testosterone
- Published: 2024-02-21
- Category: blood-sexual-health
- Author: Barbora Hamernikova

Summary Free testosterone, a fraction of the total testosterone in the blood, plays a pivotal role in various physiological processes. Unlike testosterone bound to proteins like Sex Hormone-Binding Globulin (SHBG) and albumin, free testosterone is unbound and readily available for use by the body's cells. Overview Testosterone is a vital hormone predominantly produced by the testes in men and, to a lesser extent, the ovaries in women. A small amount is also made in the adrenal glands. While most testosterone in the bloodstream is bound to proteins, a small portion remains unbound and is referred to as free testosterone. This fraction is crucial, as it can enter cells and activate receptors, influencing many physiological processes, including reproductive function, muscle development, and mood regulation. [1] What should you know about this biomarker? Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use pmol/l (picomoles per liter). Free testosterone level is an accurate indicator of hormonal health, especially in conditions where SHBG levels are altered. Optimal levels of free testosterone range between 25-75 pmol/l in men and between 2-12 pmol/l in women. Optimal values depend on the age of the individual. Low free testosterone levels in men may cause symptoms such as fatigue, decreased libido, and sexual dysfunction. [2] Free testosterone levels can naturally decline with age, especially in men. Interpreting free testosterone levels should be done in conjunction with other hormone levels and clinical symptoms. There are three possible states of your blood test result: low, average, and high levels. If your free testosterone levels are below the reference range, it can affect energy, muscle mass, libido, and fertility. If your free testosterone levels are within the reference range, continue a balanced diet, regular exercise, and proper rest. If your free testosterone levels are above the reference range, it can increase strength and energy, however, it can also lead to aggressive behavior or acne. Regular exercise can help balance the level, but consulting a doctor is recommended if symptoms occur. In women, high testosterone levels can present with menstrual irregularities, obesity, extra hair growth, blood sugar problems, and infertility. [5] Genetics Certain genetic variations can affect the production of testosterone and the levels of SHBG, which can alter the amount of free testosterone. [3,4] It's also essential to consider the interplay between genetic and environmental factors such as diet, exercise, and stress, as these can significantly impact hormonal levels. Recommendations If your free testosterone levels are not within the optimal range, it is important to determine the cause [1] . However, each person's hormonal profile is unique, and what might be considered an optimal free testosterone level for one individual may differ for another: Schedule an appointment with a healthcare professional to discuss your symptoms and concerns. Your healthcare professional may suggest blood tests to measure your free testosterone levels along with other related hormones such as total testosterone and SHBG. Your healthcare professional may suggest lifestyle changes such as regular exercise, a balanced diet, stress reduction techniques, and ensuring adequate sleep, as these factors can influence free testosterone levels. Medication or hormone therapy may sometimes be necessary to manage hormonal imbalances. Hormonal health can change over time. It's essential to have regular check-ups to assess how your levels are responding to any interventions or lifestyle changes. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### SHBG - Sex hormone binding globulin

- URL: https://macromo.com/blog/blood-sexual-health/shbg
- Published: 2024-02-21
- Category: blood-sexual-health
- Author: Barbora Hamernikova

Summary Sex Hormone-Binding Globulin (SHBG) is a vital protein produced by the liver, which plays a central role in controlling the amount of sex hormones your body can use. By binding to the hormones, including testosterone and estrogen, SHBG helps to regulate their bioavailability in the body's cells. Overview The primary function of SHBG is to transport sex hormones in the bloodstream. Knowing that sex hormones are hydrophobic molecules, unable to transport itself through the body all alone, it emphasizes its importance in the human body. It binds tightly to testosterone and estrogen, the two main sex hormones, rendering them inactive. Only the unbound hormones, or 'free' hormones, can affect the body by entering cells and influence the transcription of genes in the nucleus. Consequently, SHBG can indirectly influence various physiological processes due to its role in determining the levels of active sex hormones. [1,4] An SHBG test is usually done if you experience symptoms and/or signs of having too little or too much testosterone. It is a ‘’male’’ sex hormone produced primarily by testes, although females also have small amounts of it produced by the ovaries and adrenal glands. This test can assist in diagnosing men with symptoms of low testosterone, such as low libido, erectile dysfunction, infertility, mood changes, and loss of muscle mass. It can also be used for diagnosing women, experiencing symptoms of high testosterone, like irregular menstruation, acne, weight gain, excessive hair growth, and infertility. What should you know about this biomarker? Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use nmol/l (nanomoles per liter). The optimal range for SHBG levels typically falls between 14.5 to 48.4 nmol/l for males and 19.8 to 155.2 nmol/l for females. However, it may decrease with age, obesity, insulin resistance, and certain medications. Low SHBG levels in men may be associated with conditions such as hypogonadism (low testosterone) and metabolic syndrome. In women, high SHBG levels may be related to conditions such as polycystic ovary syndrome (PCOS), while low levels may be associated with menopause and hormonal imbalances. [2] There are three possible states of your blood test result: low, average, and high levels. SHBG levels lower than the reference range could affect your hormonal balance, meaning your total testosterone is more available to use. Low levels of SHBG may be related to hypothyroidism, type 2 diabetes, obesity, Cushing’s syndrome, or polycystic ovary disease. However, it is normal for SHBG levels to decrease with age. Please consult your healthcare provider for further evaluation and potential treatment strategies. SHBG levels within the reference range are generally a good sign. However, regular check-ups are recommended. Elevated SHBG levels could impact your hormone levels, leading to a lower portion of readily available testosterone. High SHBG levels can be associated with liver disease, hyperthyroidism, eating disorders, oral contraception, etc. Consult your healthcare provider for a detailed understanding and potential next steps. Genetics Genetics also plays a role in determining SHBG levels. Various genetic variants have been linked with changes in SHBG concentrations, indicating a heritable component to this biomarker. However, lifestyle and environmental influences can also significantly impact SHBG levels, adding another layer of complexity to this biomarker. [1,3] Recommendations If your results of SHBG are not within the optimal range, it is important to find out the cause: If your SHBG levels are not in the reference range, it's essential to consult with a healthcare provider. Lifestyle modifications such as maintaining a healthy weight, eating a balanced diet, engaging in regular physical activity, and limiting alcohol intake may help manage SHBG levels. If the SHBG levels are significantly out of the normal range and there might be a suspected genetic component, you can consider undergoing DNA testing. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### PSA - Prostate-specific antigen

- URL: https://macromo.com/blog/blood-cancer-markers/psa
- Published: 2024-02-21
- Category: blood-cancer-markers
- Author: Barbora Hamernikova

Summary PSA, an abbreviation for prostate-specific antigen, is a protein produced by the prostate, a small gland that sits below the bladder in males. PSA is present in small quantities in the blood of men with healthy prostates but can be elevated in the presence of prostate cancer or other prostate disorders, such as prostatitis or benign prostatic hyperplasia. Overview The level of PSA in the blood depends on several factors, such as age, race, family history, medication use, sexual activity, and the prostate size of the person. It can be produced by both cancerous and noncancerous tissue in the prostate. PSA is a biomarker that can predict the risk of developing or worsening prostate cancer or the risk of developing or worsening other conditions that are associated with prostate cancer, such as urinary problems and sexual dysfunction. Nevertheless, its significance lies equally in physiological function in males, as it assists in the liquefaction of semen and allows sperm to swim smoothly and freely. [1-3] What should you know about this biomarker? PSA is both a diagnostic and prognostic marker of prostate health and state. Elevated PSA can be an early marker of future prostate dysfunction, even before changes in traditional prostate markers are observed. [4] Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use µg/l (micrograms per liter), but you may also find values in ng/ml (nanograms per millimeter) on the internet. PSA levels are highly age-dependent, with an upper limit of around 2.5 µg/l (micrograms per liter) up to the age of 50. Higher levels may indicate an increased risk of prostate cancer or other related diseases. However, it is good to know that you can reduce or increase your PSA level by lifestyle changes Your blood test can reveal various potential outcomes: If your PSA levels are low, it is generally considered a positive sign. However, it's important to note that certain medications or medical conditions can influence PSA levels. If PSA levels are within the reference range, it suggests a healthy prostate. If PSA levels are elevated, it is a potential sign of an issue. Please consult your healthcare provider for further evaluation and possible treatment strategies. Genetics Scientists have discovered genetic changes in PSA levels and their connection to various factors, encompassing demographic characteristics, lifestyle choices, and genetic influences. In particular, genetic contributors known as single nucleotide polymorphisms (SNPs) are linked to both PSA levels alone and in conjunction with prostate cancer. Notably, it has been revealed that the regulation of PSA levels involves genetic variations within the superfamily of organic anion-transporting polypeptides encoded by the SLCO2B1 and SLCO1B3 genes. A study conducted among men in New Zealand has shed further light on the association between PSA levels and genetic polymorphisms in AKR1C3 . These specific genetic variations have also been implicated in the development of prostate cancer. This finding helps us understand the relationship between genetic factors and PSA levels and their potential implications for prostate health. [5] Recommendations If your results of PSA are outside the optimal range, there are several available options [6,7] : It is crucial to consult your healthcare provider in case of any concerns regarding your prostate health. If your test results show elevated PSA levels or you have a family history of prostate cancer, regular check-ups are essential for the prevention and early detection of any problem. If your PSA levels are high, your doctor may order additional tests, such as another PSA test, digital rectal examination, urine test, or prostate biopsy. One of the causes of elevated PSA levels is also increasing age. However, this should also be consulted with your doctor. Implement a healthy, balanced diet and regular exercise activity. Your lifestyle has a significant impact on overall health, and it is also a powerful prevention of many diseases, including prostate cancer. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Total Testosterone

- URL: https://macromo.com/blog/blood-sexual-health/total-testosterone
- Published: 2024-02-21
- Category: blood-sexual-health
- Author: Barbora Hamernikova

Summary Testosterone is one of the essential sex hormones that plays a crucial role in development and various functions of the body, with its amount being mostly important for men. It is the most significant hormone within the group of androgens. The primary source of testosterone in males are the testicles, where testosterone is both synthesized and stored. However, small amounts of testosterone are synthesized in female ovaries too. The adrenal glands produce androgens as well, although different kinds and to a smaller extent but with very similar functions. The level of testosterone can vary widely depending on age, time of a day, and many other factors. Overview In men, testosterone has several vital functions. Before the birth, it determines the gender of the embryo. During male puberty, it provides the growth of bones, muscles, hair, penis, testicles and causes the deepening of voice. In adults, it regulates sex drive (libido), influences bone mass, affects fat distribution, contributes to muscle mass and strength, and secures sperm production, together with other hormones such as luteinizing hormone (LH) and follicles stimulating hormone (FSH). In women, testosterone is important for the growth of bones, muscles, and healthy organs. The pituitary gland in the brain controls the amount of testosterone that the body makes. It does this by using other signaling hormones such as gonadotropin releasing hormone (GnRH) or luteinizing hormone (LH). The significance of testosterone extends beyond its physiological roles. It serves as a biomarker that aids in diagnosing and monitoring various conditions affecting the male and female endocrine systems. These conditions in males include hypogonadism (insufficient testosterone production), infertility, erectile dysfunction, and prostate cancer. [1,2] In females, testosterone can be used to diagnose and monitor disorders such as ovarian cancer or polycystic ovary syndrome (PCOS). Furthermore, abnormal testosterone levels may indicate a problem not only within the gonads but also with the pituitary or adrenal glands. What should you know about this biomarker? By evaluating testosterone levels, healthcare professionals can gain valuable insights into the functioning and health of the male and female reproductive systems. [1,3] Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use nmol/l (nanomoles per liter), but you may also find values in ng/dl (nanograms per deciliter) on the internet. Testosterone in your body exists as free testosterone (not attached to anything), and bound testosterone, which is attached to proteins such as albumin and sex hormone-binding globulin (SHBG). Total testosterone measures both of these forms. Only 1 to 2% of the circulating testosterone around your body is classified as free testosterone. An average of 80% of testosterone found in men is bound to sex hormone-binding globulin (SHBG), while smaller percentages are bound to albumin and cortisol-binding globulin. Normal levels fall between 7 and 26 nmol/l in men and between 0.3 and 2.3 nmol/l in women. Low testosterone levels in men may cause symptoms such as decreased sex drive, erectile dysfunction, fatigue, and depression, while high levels may cause acne, mood swings, and an increased risk of heart disease. It's important to note that testosterone levels can fluctuate throughout the day and can be influenced by factors such as diet, stress, and overall hormonal balance. There are three possible states of your blood test result: low, average, and high levels. Total testosterone levels are lower than the reference range. In men, it could impact libido, energy levels, mood, and physical health. It can lead to infertility, decreased muscle strength, bone density, and hair loss. In women, it can additionally lead to irregular menstrual cycle and vaginal dryness. Total testosterone levels are within the reference range, which is a good sign. Total testosterone levels are higher than usual. In men, it can cause acne, aggressive behavior, and excessive body hair. In women, high testosterone can lead to hirsutism (excessive hair growth in a male-like pattern), balding, menstrual irregularities, acne, deepening of the voice, and increased muscle mass. Genetics While genetics can contribute to individual variations in testosterone levels, it's important to note that they interact with various environmental and lifestyle factors. Overall health status, lifestyle, external factors and aging can also influence testosterone levels significantly. Research that has focused on testosterone's effect on human diseases stated that testosterone levels in men and women are partly heritable (~20%) and influenced by the contribution of multiple genetic variants and genes. [4] Several genes have been identified as influential factors, including the androgen receptor gene (ARgene), which affects the sensitivity of cells to testosterone. Variations in this gene can alter the response to otherwise normal levels of testosterone, leading to the same hormonal disbalance as with the low/high testosterone levels. [5] The sex hormone-binding globulin (SHBG), a protein that binds to testosterone and regulates its availability, is also influenced by genetic variations. Changes in the SHBG gene can impact the levels and activity of this protein, consequently affecting the amount of free and active testosterone in the body. [6] Recommendations If your test results are outside the reference range, it is advisable to consider taking some of the steps listed below: If you haven't already, consult with a healthcare provider. They can provide guidance based on your specific condition and symptoms​.​ Regular exercise, a balanced diet, and adequate sleep can help regulate testosterone levels. Avoiding excessive alcohol and maintaining a healthy weight can also be beneficial​. Regular monitoring and check-ups are essential for maintaining your health. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### TSH - Thyroid-stimulating hormone

- URL: https://macromo.com/blog/thyroid-function/tsh
- Published: 2024-02-21
- Category: thyroid-function
- Author: Barbora Hamernikova

Summary TSH stands for thyroid-stimulating hormone, a hormone that is produced by the pituitary gland in the brain. Its primary function is to regulate the release of hormones from the thyroid gland. TSH is a biomarker that can be used to evaluate thyroid function and health, as well as to guide treatment for thyroid disorders. Overview TSH is related to the thyroid, a small, butterfly-shaped gland in the front of the neck that produces hormones that control how the body uses energy. TSH is also linked to the pituitary, a pea-sized gland at the base of the brain that regulates the secretion of various hormones in the body. The level of TSH in the blood depends on several factors, such as the amount of thyroid hormones, the feedback from the brain, and the presence of other conditions or medications that affect the thyroid or the pituitary. [1] What should you know about this biomarker? Abnormal levels of TSH may indicate a thyroid disease such as hypothyroidism or hyperthyroidism. However, the diagnosis often requires additional tests, including measurements of T4 and T3 levels. [3] Furthermore, abnormal TSH levels can indicate a problem with the pituitary gland, requiring additional examination to evaluate its function. Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use mU/l (milli-international units per liter). The optimal TSH range is between 0.27 and 4.2 mU/l. However, optimal TSH levels may vary depending on age, gender, and health status. There are three possible states of your blood test result: low, average, and high levels. Low TSH levels suggest a possibility of overactive thyroid (hyperthyroidism). If you're experiencing symptoms like rapid heart rate, anxiety, or weight loss, please consult your healthcare provider for an appropriate solution. When TSH levels are within the reference range, it indicates good thyroid health. Elevated TSH levels can indicate an underactive thyroid (hypothyroidism). Please consult your healthcare provider if your TSH levels are higher than normal. Genetics Multiple available studies have been focused on the relationship between genetics and TSH levels. The results of one genome-wide association study (GWAS) support the previously observed connection between the PDE8B gene and serum TSH levels in European Americans. It also points out the need for further research that will be more diverse regarding selected populations. [4] A study performed on Danish twins showed that genetic factors accounted for 64% of the variation in serum TSH concentration. [5] Another study found similar results, stating that TSH levels are moderately heritable, with estimates of up to 65%. This study identified 46 independent TSH-associated loci, accounting for 9.4% of TSH variance. [6] Recommendations If your TSH levels are outside the optimal range, it might indicate potential thyroid problems. However, many factors can contribute to the change in your TSH levels [1] : For TSH levels outside the optimal range, seek medical advice and consider potential treatment options. Your doctor might refer you to an endocrinologist, a doctor specializing in problems with the endocrine system. Maintain a balanced diet with adequate nutrients. Include foods rich in iodine, such as fish, dairy, and iodized salt, as iodine is essential for thyroid hormone production. Selenium and zinc are also important for thyroid function. Include foods like nuts, seeds, whole grains, and shellfish, which are high in these minerals. Limit consumption of goitrogenic foods (that interfere with thyroid function), especially if you have an iodine deficiency. Engage in regular physical activity to improve thyroid function. Exercise stimulates thyroid gland secretion and increases tissue sensitivity to thyroid hormones. Chronic stress can negatively impact your thyroid. Engage in stress-reducing activities like yoga, meditation, and spending time with loved ones. Being underweight or overweight can affect your thyroid. Focus on maintaining a healthy body weight through a balanced diet and regular exercise. Avoid smoking and excessive alcohol consumption, as they can have detrimental effects on thyroid function. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### NT-proBNP

- URL: https://macromo.com/blog/blood-heart-health/nt-probnp
- Published: 2024-02-21
- Category: blood-heart-health
- Author: Barbora Hamernikova

Summary NT-proBNP stands for the amino-terminal portion of pro-B natriuretic peptide type B. It is a hormonally inactive cleavage product of the prohormone BNP (prohormone is a substance from which the active hormone itself is formed by further modifications). BNP is a hormone produced by the heart when it is under stress or damaged. BNP helps the body eliminate excess fluid and salt and therefore lower blood pressure by increasing urine output and relaxing blood vessels. Laboratories are using both NT-proBNP and BNP as biomarkers (indicators) of heart health. Overview BNP, or B-type Natriuretic Peptide, along with its biologically inactive cleavage counterpart NT-proBNP (N-terminal pro-B-type Natriuretic Peptide), are important biomarkers that are measured from blood to diagnose and assess the severity of heart failure. These biomarkers are important in the evaluation of other cardiac diseases. The proBNP molecule (which undergoes cleavage and modification process to form BNP and NT-proBNP) is synthesized and secreted in response to ventricular wall stretch due to increased pressure or volume. This stretching typically occurs when the heart struggles to pump efficiently or when there is a fluid overload in the body. These peptides, especially BNP, serve not only as diagnostic tools but also as prognostic factors. They help to predict the risk of developing or exacerbating heart failure. Furthermore, elevated levels of BNP and NT-proBNP can foresee the likelihood of hospitalization due to heart failure or other heart-related events. It is important to note that higher levels of these peptides indicate more severe heart failure, whereas lower levels suggest better cardiac function. [1-3] What should you know about this biomarker? Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use ng/l (nanogram per liter), but you may also find values in pg/ml (picogram per milliliter) on the internet. An optimal NT-proBNP level depends on factors such as age, sex, and medical history. Generally, a level below 125 ng/l is considered normal for people under 75 years old (for chronic conditions). Acute failure is excluded if the level is < 300 ng/l . If the NT-proBNP level is high, further tests may be needed to determine the underlying cause. Treatment depends on the specific condition and may involve lifestyle changes, medication, or surgery in severe cases. [2-4] Your blood test results can fall into one of three potential categories: If NT-proBNP levels are low, this is not usually a cause for concern. However, if you develop unexpected symptoms or you don't feel well, consult your doctor. If NT-proBNP levels are within the reference range, that is a good sign of your heart health. Keep going to regular check-ups to track your health. If NT-proBNP levels are elevated, it could be a sign of heart stress. It is recommended to visit and consult your healthcare provider. Genetics One's genetic background may potentially affect circulating NT-proBNT levels. Genetic association analysis was carried out in a group of 4,331 participants from the Long Life Family Study. The research pointed out several allelic variants that could be associated with NT-proBNP levels. [5] In another study (GWAS), scientists identified two SNPs (single nucleotide polymorphisms) that they associate with NT-proBNP levels. However, only one variant has been connected to a higher risk of cardiovascular death. [6] Recommendations If your NT-proBNP levels are higher than the normal range, indicating potential heart issues, it would be wise to consider taking the steps listed below to improve your heart health [2,7] : Consume a balanced diet emphasizing fruits, vegetables, whole grains, and lean proteins. It's also advisable to limit sodium intake, which can contribute to fluid retention and exacerbate heart failure. Consult your healthcare provider to develop an exercise plan tailored to your condition. [8] It's important to adhere to any medication regimen prescribed by your doctor to manage your heart condition. Medications like beta-blockers, ACE inhibitors, and diuretics may be prescribed to manage symptoms and reduce the strain on your heart. Keeping your blood pressure in check is crucial for heart health. If you smoke, it’s crucial to quit, as tobacco use is a significant risk factor for heart disease. Also, it’s advisable to limit alcohol intake as excessive consumption can weaken the heart. Regular follow-up appointments with your healthcare provider are essential for monitoring your heart’s function and adjusting treatments as necessary. Chronic stress can have adverse effects on the heart. Employ stress-reduction techniques such as deep breathing, meditation, or engaging in hobbies you enjoy. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### LDL Cholesterol

- URL: https://macromo.com/blog/blood-heart-health/ldl-cholesterol
- Published: 2024-02-21
- Category: blood-heart-health
- Author: Barbora Hamernikova

Summary LDL cholesterol is an abbreviation for low-density lipoprotein, and it circulates in your bloodstream. It is also called the "bad" cholesterol because it can build up in the walls of your arteries and form plaque, narrowing and hardening your arteries. Overview LDL cholesterol is secreted by the liver. It is also found in foods high in saturated fat, such as red meat, full-fat dairy, and fried foods. LDL cholesterol is a biomarker that helps to indicate your cardiovascular health and the risk of developing atherosclerosis, which can lead to coronary artery disease, angina, heart attack, and stroke. [1,2] What should you know about this biomarker? Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use mmol/l (millimole per liter), but you may also find values in mg/dl (milligram per deciliter) on the internet. Generally, a level below 3.0 mmol/l (millimoles per liter of blood) is optimal for individuals at low risk for heart disease, while those at higher risk may require some approaches to lower their LDL cholesterol levels. [3,4] It is important to note that cardiovascular risk assessment is not based on LDL levels alone, but multiple factors need to be considered. Your blood test can reveal various potential outcomes: Your LDL cholesterol level is low. It's generally a positive sign, but extremely low levels can be due to certain health conditions. Your LDL cholesterol is within the reference range. That is the desired result. Your LDL cholesterol level is elevated. Consider lifestyle changes that can help reduce the levels, and it is also advisable to consult your doctor. Genetics Genetic influence affects levels of not only the HDL cholesterol but also LDL cholesterol. A positive family history is an indicator of a greater possibility of occurrence. Some people may have high LDL cholesterol due to genetic factors like familial hypercholesterolemia. Familial hypercholesterolemia is one of the most common autosomal dominant genetic diseases, leading to an extreme increase in LDL values, causing the development of heart disease at a very young age. It is caused by mutations in the LDL receptor gene ( LDLR ), which encodes a protein that removes LDL cholesterol from the bloodstream. [5] Recommendations If your LDL cholesterol result is higher than the optimal range, it would be ideal to take some of the steps listed below [2,3] : Eat a healthy diet low in saturated fat, trans fat, and cholesterol; and high in fruits, vegetables, whole grains, and lean protein. Increase your physical activity to at least 150 minutes of moderate-intensity exercise or 75 minutes of vigorous-intensity exercise per week. Quit smoking if you are a smoker, as smoking can lower your HDL (good) cholesterol and damage your blood vessels. Lose weight if you are overweight or obese, as excess weight can raise your LDL cholesterol and triglycerides, and lower your HDL cholesterol. Take prescribed medication, such as statins, bile acid sequestrants, or PCSK9 inhibitors, which can lower your LDL cholesterol and reduce your risk of cardiovascular events. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### HDL Cholesterol

- URL: https://macromo.com/blog/blood-heart-health/hdl-cholesterol
- Published: 2024-02-21
- Category: blood-heart-health
- Author: Barbora Hamernikova

Summary HDL cholesterol is an abbreviation for high-density lipoprotein, and it circulates in your bloodstream. It is also called the "good" cholesterol as it helps to remove excess cholesterol from the blood to the liver, where it is broken down and eliminated from your body. Overview HDL cholesterol is secreted by the liver and small intestines. It is also found in foods that are high in unsaturated fat, such as nuts, seeds, olive oil, avocado, and fatty fish. It is another biomarker that helps to indicate your cardiovascular health and the risk of developing atherosclerosis (buildup of plaque in your arteries). Higher HDL levels are associated with a decreased risk of cardiovascular diseases. Furthermore, HDL can extract cholesterol from plaques leading to plaque regression and stabilization. Atherosclerosis can lead to coronary artery disease, angina, heart attack, peripheral artery disease, carotid artery disease, and stroke. [1,2] What should you know about this biomarker? Each laboratory uses different machines and protocols so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests we use mmol/l (millimole per liter), but you may also find values in mg/dl (milligram per deciliter) on the internet. Values of 1.00 mmol/l(millimoles per liter of blood) or higher for men and 1.20 mmol/l or higher for women are considered optimal for those at low risk for heart disease. Those at higher risk may benefit from even higher levels. [1] There are three possible states of your blood test result: low, average, and high levels. If your HDL cholesterol level is below the reference range, try increasing physical activity, quitting smoking (if applicable), and maintaining a diet high in healthy fats. Please consult your healthcare provider to discuss potential strategies for increasing HDL levels. If your HDL cholesterol is within the reference range, that is the best-case scenario. Healthy lifestyle habits are the key to keeping your 'good' cholesterol levels stable. If your HDL cholesterol level is higher than the reference range, it is usually a good sign. However, extremely high levels may need medical investigation. Genetics The heritability of HDL cholesterol (HDL-C) is estimated to be 62–77%. Some people may have low HDL cholesterol due to genetic factors, such as Tangier disease (mutation in ABCA1 gene) or familial hypoalphalipoproteinemia. [3,4] One study found that people who were homozygous and compound heterozygous for the APOA1 gene had almost no plasma HDL cholesterol. Mutations that lead to higher levels of HDL cholesterol have also been observed. These genetic changes are associated with the CEPT gene, but the results suggest both pro- and anti-atherogenic effects and more research is needed. [3] Recommendations If your HDL cholesterol result is lower than the optimal range, it is a good decision to consider taking some steps: Eat a heart-healthy diet that is low in saturated fat, trans fat, and cholesterol, and high in fruits, vegetables, whole grains, and lean protein. Increase your physical activity to at least 150 minutes of moderate-intensity exercise or 75 minutes of vigorous-intensity exercise per week. Aerobic exercise, such as walking, jogging, cycling, or swimming, can raise your HDL cholesterol and lower your LDL cholesterol and triglycerides. Quit smoking if you are a smoker, as smoking can lower your HDL cholesterol and damage your blood vessels. Lose weight if you are overweight or obese, as excess weight can lower your HDL cholesterol and raise your LDL cholesterol and triglycerides. Take medication if prescribed by your doctor, such as niacin, fibrates, or CETP inhibitors. It can increase your HDL cholesterol. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Total Cholesterol

- URL: https://macromo.com/blog/blood-heart-health/total-cholesterol
- Published: 2024-02-21
- Category: blood-heart-health
- Author: Barbora Hamernikova

Summary Total cholesterol is the total amount of cholesterol in the blood. Cholesterol is a waxy, fat-like substance found in every cell in the body. It is used to make hormones, vitamin D, and substances that help us with food digestion. Overview Total cholesterol includes several types of cholesterol, e.g. low-density lipoprotein (LDL, or “bad”) cholesterol and high-density lipoprotein (HDL, or “good”) cholesterol. LDL cholesterol can build up in your arteries and form plaque, which can narrow and harden them. This condition is known as atherosclerosis and can lead to a heart attack or a stroke. HDL cholesterol helps remove LDL cholesterol from the arteries and carries it back to the liver, where it is broken down and removed from the body. However, it is important to mention that the human body needs both LDL and HDL cholesterol for its proper function. Total cholesterol can predict the risk of developing atherosclerosis. Higher LDL and lower HDL concentrations indicate a higher probability of plaque development. Atherosclerosis can lead to coronary artery disease, angina, heart attack, stroke, peripheral artery disease, and carotid artery disease. [1,2] What should you know about this biomarker? There are many resources and ways that describe the optimal levels. However, each laboratory uses different machines and protocols so the results might differ in the reference ranges or used units of measurement. In Macromo blood tests we use mmol/l (millimole per liter), but you may also find values in mg/dl (milligram per deciliter) on the internet. A level of total cholesterol less than 5.0 mmol/l is optimal. Although the ratio of LDL to HDL cholesterol is important, the assessment should also include other risk factors that may be present. The elevated level is between 5.0 mmol/l and 5.75 mmol/l, and the high level is 5.75 mmol/l and above. Your total cholesterol level reflects your risk for heart disease. In general, the higher the level, the higher your risk. [2,3] Your blood test outcome can be classified into one of the potential categories: If your total cholesterol is lower, it is usually nothing to be concerned about. However, if you don't feel well or you have any doubts, consult your doctor for any necessary follow-up. If your total cholesterol is within the reference range, that is a good sign. If your total cholesterol level is higher than the optimum, it's important to find the underlying cause. Consulting your doctor or a dietitian could be beneficial for personalized advice and potential medication. Genetics In most of the population, there is no single gene that would be responsible for high cholesterol as we know it. But still, genetics is important, it influences the conditions causing the increase of cholesterol levels, such as obesity, overeating, or diabetes. In a smaller number of cases, high cholesterol can actually be a result of familial hypercholesterolemia (FH). It is the world’s most common autosomal dominant genetic disease leading to an extreme increase in LDL values, causing the development of heart disease at a very young age. FH is caused by genetic changes in the LDL receptor gene ( LDLR ), which encodes a protein that removes LDL cholesterol from the bloodstream. [4] Recommendations If your total cholesterol result is outside the optimal range, it is important to consider some steps to protect your health [5] : Choose foods that are good for your overall health, such as fruits, vegetables, whole grains, lean protein, and healthy fats. Eat a balanced diet that is low in fat, sugar, and salt, and high in fiber, vitamins, and antioxidants. Increase your physical activity, which has a great impact on your overall health status. Exercise can help you lose weight, improve your metabolism, and reduce inflammation in the body. Take medication if prescribed by your doctor and don't skip regular checkups, as they're a great tool to keep your health monitored. Try to take steps to manage your stress levels, as stress can worsen the defense mechanisms of the body. Quit smoking if you are a smoker. It can raise the levels of HDL cholesterol, which helps to remove LDL cholesterol from your arteries. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### ALT - Alanine transaminase

- URL: https://macromo.com/blog/blood-liver-and-kidney/alt
- Published: 2024-02-21
- Category: blood-liver-and-kidney
- Author: Barbora Hamernikova

Summary ALT is a type of enzyme, which helps chemical reactions happen in your body. ALT stands for alanine aminotransferase, and it is mainly found in your liver cells. ALT helps your liver break down proteins and convert them into energy for your body. Overview ALT, short for Alanine Aminotransferase, is a significant indicator of liver health and can help identify the root cause of liver complications. When the liver cells undergo damage or inflammation, they release ALT into the bloodstream. Elevated ALT levels could suggest a liver injury or a variety of liver diseases, including hepatitis, cirrhosis, fatty liver disease, or even liver cancer. [1] What should you know about this biomarker? It is important to check your ALT levels over time, as it can help you and your doctor assess how well your liver is functioning. ALT test can be useful in distinguishing acute and chronic liver problems. However, the amount of ALT in your blood isn’t related to the extent of liver damage. There are many resources and ways that describe the optimal levels. However, each laboratory uses different machines and protocols, so the results might differ in the reference ranges or used units of measurement. In Macromo blood tests, we use units: μkat/l (microkatal per liter), but you may also find values in U/l (units per liter) on the internet. Normal levels are less than 0.83 μkat/l (microkatal per liter) for men and less than 0.58 μkat/l for women, but it may vary depending on your age, gender, and laboratory. Certain factors can also affect your levels (alcohol consumption, medications, supplements, obesity, or muscle injury). [2,3] There are multiple possible states of your blood test result: If your ALT levels are lower, it is a good sign, and there's no known danger associated with low ALT. However, if you're experiencing symptoms like fatigue or weakness, contact your healthcare provider for further advice. If your ALT levels are within the reference range it is a sign of healthy liver function. If your ALT levels are elevated, that potentially suggests your liver might be stressed or damaged. However, it's important to consult your healthcare provider for further investigation and a tailored health plan. Genetics Genetics can have a certain impact on ALT levels. Several studies have investigated the connection between genetics and liver enzymes (ALT, GGT, or ALP). A study focused on people of European descent found that a genetic risk score for elevated levels of liver enzymes is associated with a higher fat percentage in the body, trunk, and liver, as well as with an elevated body mass index (BMI). [4] Another study investigated the association between the MBOAT7 gene and plasma ALT levels among kids. The findings suggest that MBOAT7 gene polymorphism is related to an increased risk of nonalcoholic fatty liver disease later in adulthood. [5] Recommendations If your ALT is outside the normal range, you may need to take some steps to address it and protect your liver health. Some of the steps you can take are [3] : If the elevation is mild and the person is asymptomatic, the doctor might recommend rechecking the ALT levels after a period of time. Maintain a balanced diet that is low in fat, sugar, and salt, and high in fiber, vitamins, and antioxidants. Several studies have previously mentioned the protective effect of coffee on the liver. [6,7,8] Increase your physical activity. Exercise can help you lose weight, improve your metabolism, and reduce inflammation and oxidative stress in your liver. Take the medication prescribed by your doctor, which can treat or prevent liver infections, inflammation, or autoimmune diseases. Manage your stress levels, as stress can worsen your liver function. Quit smoking if you are a smoker, as it can damage your liver cells and increase your risk of liver cancer and other problems. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Transferrin

- URL: https://macromo.com/blog/blood-iron-levels/transferrin
- Published: 2024-02-21
- Category: blood-iron-levels
- Author: Barbora Hamernikova

Summary Transferrin is a blood protein responsible for transporting iron throughout the body. Abnormal levels of this protein can indicate various health conditions, including iron deficiency or overload. If transferrin levels are outside the normal range, further testing, clinical assessment, and identification of the underlying cause are essential. Overview Transferrin, a critical iron-binding glycoprotein, holds a key role in the intricate process of iron transport within the human body. Beyond its primary function, transferrin impacts various physiological processes, contributing to overall health. Monitoring transferrin levels is imperative for evaluating an individual's iron status. Optimal levels ensure effective iron transport, preventing conditions like iron deficiency anemia and supporting immune system function. [1-3] What should you know about Transferrin? Understanding the optimal range of transferrin levels in the blood is vital for assessing iron status. The recommended transferrin levels typically fall within a specific range, with minor variations across different laboratories. The recommended values for transferrin usually range from 1.80 to 4.00 g/l (grams per liter). [4] There are more possible states of your blood test result: [2] Low Levels Your transferrin levels are low. This indicates a possible deficiency of this iron-binding protein. Transferrin plays a key role in the transport of iron in the body and low levels can interfere with this process. It is advisable to visit a specialist who deals with these problems. Optimal Levels Your transferrin levels are in the optimal range. The role of transferrin in supporting efficient iron transport is essential to your overall health, and you can maintain this equilibrium with a balanced diet containing sources of iron. High Levels Your transferrin levels are elevated. It is advisable to seek a doctor who will perform a thorough examination. During this consultation, you can provide information about your dietary habits and use of supplements, which can be very helpful to the doctor. Genetics The findings suggest that genetic factors play a role in determining transferrin levels in individuals. Genetic variants of the transferrin gene (TF) have been identified, and these variants can affect transferrin levels in the blood. For example, a study found that different transferrin phenotypes were associated with variations in serum iron, total iron-binding capacity (TIBC), and transferrin saturation. [5] Another study also showed that genetic variants of TF were associated with differences in iron status, including serum iron, TIBC, and transferrin saturation. [6] Recommendations If your Transferrin levels are not within the optimal range, there are several recommendations: Further Testing: Your doctor may order additional tests to assess your iron status more comprehensively. These tests may include serum iron, ferritin, total iron-binding capacity (TIBC), and transferrin saturation. Identifying the Cause: Abnormal transferrin levels can be associated with various conditions, such as iron deficiency anemia, chronic diseases, or liver disorders. Identifying the underlying cause is crucial for developing an appropriate treatment plan. Treatment: Treatment will depend on the underlying cause of the abnormal transferrin levels. For example, if iron deficiency is identified, iron supplementation or dietary changes may be recommended. In cases of iron overload, treatment may involve phlebotomy (removing blood to reduce iron levels) or medications. Monitoring: Your healthcare provider may recommend regular follow-up tests to monitor your transferrin levels and adjust the treatment plan as needed. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Ferritin

- URL: https://macromo.com/blog/blood-iron-levels/ferritin
- Published: 2024-02-21
- Category: blood-iron-levels
- Author: Barbora Hamernikova

Summary Ferritin, a major iron storage protein, is essential to iron homeostasis and is involved in a wide range of physiologic and pathologic processes. It is integral to the regulation of iron and it assumes a central role in sustaining overall health. The measurement of ferritin levels in the blood affords valuable insights into an individual's health status. Overview Ferritin is a protein abundant throughout the body in places such as the liver, spleen, and bone marrow. It has a crucial role in maintaining iron levels for efficient oxygen transfer to the tissues. Iron deficiency can result in anemia, which is accompanied by fatigue and weakness. Fortunately, this problem can be addressed with simple dietary modifications or iron supplements. [1,2] What should you know about Ferritin? Understanding ferritin's diverse functions in the body is crucial. It stores iron and it has supporting functions like oxygen transport. Low ferritin levels may indicate iron deficiency, leading to fatigue and anemia. Optimal levels promote overall well-being, while high levels may suggest inflammation or iron overload. The recommended range can vary by gender, usually between 13-150 µg/l (micrograms per liter) for women and 30-400 µg/l for men. [3] There are several possible states of your blood test result: [4] Low Levels Low ferritin levels signal an insufficient storage of iron within the body. This often points to iron deficiency, a condition with symptoms including fatigue, weakness, and anemia. Since ferritin plays a crucial role in storing iron for essential functions like oxygen transport, low levels can impair these processes and affect an overall well-being. Optimal Levels Optimal ferritin levels reflect a healthy balance of iron storage in the body. Within the normal range, ferritin supports general well-being and ensures a steady supply of iron for vital functions. High Levels High ferritin levels can signify iron overload, potentially leading to organ damage over time. Alternatively, it may serve as a marker for inflammatory conditions, where the body's response triggers an increase in ferritin. If high levels are detected, it is crucial to consult a healthcare provider promptly for a thorough evaluation. Genetics Some individuals may have a predisposition to higher or lower levels. [5] Genetic variants in certain genes, such as the HFE gene, have been found to influence ferritin levels. For example, the G-allele of rs1800562 in the HFE gene has been associated with lower iron stores, while the C-allele of rs179945 in the same gene is associated with lower iron stores in men. Additionally, variants in other genes like TMPRSS6 and BTBD9 have also been found to affect ferritin levels. [6] Recommendations If your Ferritin levels are not within the optimal range, there are several recommendations: [4,7] Regular Monitoring: Schedule regular blood tests to monitor ferritin levels, especially if you have a history of iron-related issues or conditions affecting inflammation. Balanced Diet: Maintain a well-balanced diet that includes a variety of nutrient-dense foods, ensuring sufficient intake of iron and other essential nutrients. Don't forget to consume vitamin C as well, as it helps to absorb iron from the intestine. Hydration: Stay adequately hydrated, as water plays a role in various physiological processes, including iron absorption. Supplementation under Guidance: Consider iron supplements only under the guidance of a healthcare professional to prevent potential adverse effects. Regular Exercise: Incorporate regular physical activity into your routine, as it can contribute to overall well-being and may positively influence iron metabolism. Collaborate with Healthcare Professionals: Consult with healthcare professionals for personalized advice, especially if there are concerns about ferritin levels. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult your physician before making any decisions regarding your health. Our tests are not intended to diagnose or treat disease. Individual results may vary and should be consulted with your general practitioner or specialist.

### Vitamin B12 (Cobalamin)

- URL: https://macromo.com/blog/blood-vitamins-and-minerals/vitamin-b12-cobalamin
- Published: 2024-02-21
- Category: blood-vitamins-and-minerals
- Author: Barbora Hamernikova

Summary Vitamin B12, also known as cobalamin, is a vital nutrient crucial for various bodily functions. It plays a significant role in red blood cell production, neurological health, and DNA synthesis. Overview Vitamin B12 is an essential water-soluble vitamin that the body requires for proper functioning. It is particularly crucial for hematopoiesis (the formation of blood cellular components) and the maintenance of a healthy nervous system. The human body does not naturally produce vitamin B12, hence it must be obtained through diet or supplements. [1,2] Monitoring vitamin B12 levels is pivotal for evaluating an individual's nutritional health. Adequate levels are necessary to prevent anemia, fatigue, weakness, and neurological problems. [3] What should you know about Vitamin B12? Understanding the normal range of vitamin B12 levels in the blood is crucial for evaluating an individual's nutritional health. For adults, the optimal vitamin B12 levels typically range from 150-650 pmol/l, though slight variations in this range may occur between different laboratories. Deviation from this recommended range, either below or above, may indicate potential deficiencies or excess. Maintaining vitamin B12 levels within the optimal range is essential for overall well-being, as it supports blood cells production, neurological health, and DNA synthesis. Adequate levels help prevent anemia, fatigue, weakness, and neurological problems. [1-3] There are more possible levels of your blood test result: Low Levels If your vitamin B12 levels are below the optimal range, it may raise concerns, especially if you experience symptoms such as fatigue or dizziness. It may indicate conditions like macrocytic anemia, malabsorption, or hyperthyroidism (an overactive thyroid gland, hyperproduction of thyroid hormones). Consulting your healthcare provider for further evaluation and appropriate action is advisable. Optimal Levels Optimal levels of vitamin B12 refer to the amount of vitamin B12 in your body that is considered to be sufficient for overall health and well-being. High Levels Vitamin B12 levels significantly above the optimal range may indicate certain leukemias, obesity and/or diabetes as well as kidney or liver problems. Consulting a healthcare provider for further evaluation and guidance is essential and strongly advised. Genetics Genetic variations in multiple genes are associated with vitamin B12 levels, influencing its absorption, transportation, and metabolic processes. These variations can lead to inadequate uptake, impaired transport, or altered conversion of vitamin B12. Understanding these genetic factors helps tailor strategies to maintain optimal vitamin B12 levels, considering an individual's unique genetic predispositions for effective personalized approaches. [4] Recommendations If your vitamin B12 levels deviate from the normal range, taking appropriate action is important to address potential deficiencies or excess. Here are some recommendations: [5] Incorporate vitamin B12-rich foods such as meat, fish, dairy products, fortified cereals and fermented vegetables into your diet. If you are following a plant based diet or you are a vegan, be aware that these population sub-groups, alongside with women of childbearing age, pregnant or lactating women are most at risk of developing vitamin B12 deficiency. Consider vitamin B12 supplements if recommended by your healthcare provider to ensure adequate levels. Undergo periodic vitamin B12 tests to track your levels and adjust your diet or supplements as needed. Consult your healthcare professional to develop a personalized plan based on your vitamin B12 levels and any genetic predispositions. Maintain a healthy lifestyle with a balanced diet, regular physical activity, and appropriate stress management to support overall well-being and optimize vitamin B12 levels. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Cystatin C

- URL: https://macromo.com/blog/blood-liver-and-kidney/cystatin-c
- Published: 2024-02-21
- Category: blood-liver-and-kidney
- Author: Barbora Hamernikova

Summary Cystatin C is a valuable biomarker used to assess kidney function. Unlike creatinine, which is a byproduct of muscle metabolism, cystatin C is a protein produced by all nucleated cells in the body. It is removed from the bloodstream solely by the kidneys. Its measurement provides a more accurate estimation of glomerular filtration rate (GFR), a key indicator of kidney function, and can aid in diagnosing and monitoring renal health. Overview Cystatin C is an essential biomarker for evaluating kidney function, offering distinct advantages over creatinine. While high creatinine levels may result from various factors, including diet and muscle mass, cystatin C levels are less influenced by these variables, making it a superior marker for GFR assessment. As a reliable marker of kidney function, cystatin C is utilized to calculate GFR, offering valuable insights into renal health. If your cystatin C blood levels are too high, it may indicate your kidneys aren’t working properly. Unlike creatinine, cystatin C is not affected by muscle mass, gender, or age, making it particularly useful in diverse populations. Cystatin C levels remain relatively stable over time, allowing for consistent monitoring of kidney function. [1-3] What should you know about this biomarker? Cystatin C levels are typically measured in blood samples. Reference ranges may vary slightly between laboratories due to differences in measurement techniques. In general, the optimal level of cystatin C is considered to be 0.55-1.15 mg/l (milligrams per liter) in people between the ages of 1-50 years. And 0.63-1.44 mg/l for people over 50 years of age. Deviations from this range can indicate potential kidney dysfunction. [4] There are three possible states of your blood test result: low, average, and high levels. Cystatin C levels below the reference limit are generally not concerning. However, consulting a healthcare professional is advisable for further evaluation. Optimal cystatin C levels indicate healthy kidney function. Regular monitoring is still recommended, especially for individuals with risk factors for kidney disease. Elevated cystatin C levels suggest impaired kidney function. It is crucial to consult a physician for a comprehensive evaluation and appropriate management. Genetics Genetic factors contribute to the regulation of cystatin C levels, similar to creatinine. Scientific investigations have revealed a hereditary component and identified specific genetic variations, known as single nucleotide polymorphisms (SNPs), linked to lower cystatin C levels. Notably, research has focused on polymorphisms within the CST3 gene in connection to this phenomenon. [5,6] However, the influence of genetics is still being investigated, and ongoing studies continue to uncover additional insights. Recommendations If cystatin C levels deviate from the optimal range, it may indicate potential kidney issues. Consider these steps to improve your kidney health effectively: Adjust your diet to promote kidney health. Limiting the intake of processed foods and excessive protein may benefit cystatin C levels. Maintain proper hydration to support kidney function and ensure accurate cystatin C measurements. If elevated cystatin C levels persist, your doctor may order additional tests to diagnose and determine the extent of kidney dysfunction. If prescribed medications for kidney-related conditions, adhere to the prescribed regimen as directed by your healthcare provider. Engage in regular moderate exercise, as it indirectly supports kidney function and overall well-being. [7] The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### FAI - Free Androgen Index

- URL: https://macromo.com/blog/blood-sexual-health/fai
- Published: 2024-02-21
- Category: blood-sexual-health
- Author: Barbora Hamernikova

Summary The Free Androgen Index (FAI) is a calculated ratio used to estimate the amount of free or unbound testosterone present in the bloodstream. This unbound testosterone is the fraction that is bioavailable and can exert its effects on the body. The FAI can provide valuable insight into conditions related to androgen levels. Overview Testosterone is the primary male sex hormone, playing critical roles in both men's and women's bodies. It contributes to muscle mass, bone density, red blood cell production, and affects mood and libido. Most testosterone in the body is bound to proteins, namely sex hormone-binding globulin (SHBG) and albumin. The remaining fraction, which is unbound, represents the free testosterone available to tissues. The Free Androgen Index (FAI) is a calculated ratio that estimates the proportion of free to total testosterone. Higher FAI values often indicate increased free testosterone levels and may suggest conditions like PCOS in women or a testosterone-secreting tumor. Conversely, lower FAI values might signify conditions such as hypogonadism in men, caused by problems in testes, pituitary, or hypothalamus. [1,2] What should you know about this biomarker? Laboratories employ different equipment and protocols, leading to variations in reference ranges or units of measurement. In Macromo blood tests, we use the unit of measure % (percentage). The equation used for the calculation is written below: FAI index [%]= (Testosterone SHBG) * 100 Ideal levels vary between individuals and genders. Typically, FAI values between 10-110 % in males and 0.6-6 % in females are considered normal, depending on the lab. The values depend on factors such as the individual's age, sex, and overall health status. [3,4] There are three possible states of your blood test result: low, average, and high levels. Your Free Androgen Index is low, potentially indicating an underlying condition such as hypogonadism. Contact a healthcare provider to determine the root cause. Your Free Androgen Index is within the normal range. That indicates balanced hormonal activity. Keep a healthy lifestyle with regular exercise, balanced nutrition, and adequate sleep. Your Free Androgen Index is elevated. It means that your body might be producing excessive androgens. It can indicate a polycystic ovarian syndrome (PCOS) or a testosterone-secreting tumor. Consult this with a healthcare provider for an evaluation. Genetics Genetic variations can influence FAI levels. Polymorphisms in genes that regulate the production of SHBG, testosterone, or enzymes involved in androgen biosynthesis and metabolism might affect the FAI value. A condition called androgen insensitivity syndrome (AIS), caused by mutations in the androgen receptor gene, leads to decreased responsiveness of target tissues to testosterone, thereby affecting FAI levels. [5] Genome-wide association studies have identified several genetic variants associated with altered SHBG levels, which would consequently impact FAI calculations. [6,7] Recommendations Regular monitoring of FAI levels can help to understand the hormonal health status over time, especially in people with conditions related to androgen levels. Adopting a balanced diet and regular exercise routine can help to maintain healthy FAI levels. Obesity has been linked to hormonal imbalances, so maintaining a healthy weight may be beneficial. If FAI values are outside the normal range, it's recommended to consult a healthcare provider for a thorough examination and diagnosis. Certain medications can affect FAI levels. Consider discussing with your healthcare provider if you're taking any prescription drugs. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Non-HDL Cholesterol

- URL: https://macromo.com/blog/blood-heart-health/non-hdl-cholesterol
- Published: 2024-02-21
- Category: blood-heart-health
- Author: Barbora Hamernikova

Summary Non-HDL Cholesterol is a calculated value of all "bad" cholesterol types in your blood. It is used as a marker of cardiovascular diseases. Overview Cholesterol is an essential substance for building cells and making vitamins and hormones. However, high levels of certain types of cholesterol can increase the risk of cardiovascular diseases, such as peripheral artery disease, stroke, or heart attack. Several types of lipoproteins carry cholesterol through the bloodstream, including low-density lipoprotein (LDL), very-low-density lipoprotein (VLDL), and high-density lipoprotein (HDL). Non-HDL cholesterol is calculated by subtracting the "good" cholesterol, HDL, from your total cholesterol level. Interestingly, research shows that non-HDL cholesterol is an even more reliable marker than LDL cholesterol. [1-3] What should you know about this biomarker? Each laboratory uses different equipment and workflows, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use mmol/l (millimole per liter), but you can also find values in mg/dl (milligrams per deciliter) on the internet. Non-HDL cholesterol levels should ideally be below 3.8 mmol/l to minimize the risk of atherosclerosis and heart disease. [4-6] For high-risk people, the levels should be even lower, below 1.8 mmol/l. The equation used for the calculation of the result is written below: Non−HDL Cholesterol = Total Cholesterol - HDL Cholesterol Your blood test can show distinct result possibilities: If your non-HDL cholesterol level is low, it is generally associated with a lower risk of cardiovascular disease. However, if you have any concerns, please consult a healthcare provider. If the non-HDL cholesterol level is within the normal range, it points out a healthy balance in your lipid profile. If the non-HDL cholesterol level is above the recommended range, it indicates an elevated risk of atherosclerosis. Please consult your healthcare provider. Genetics Although no single gene is identified to cause high cholesterol, genetics is still an important factor. It can affect the conditions that lead to increased cholesterol levels, including obesity, overeating, or diabetes. Genetic variations can influence non-HDL cholesterol levels. Polymorphisms in genes involved in lipid metabolism, such as LDLR , can affect the level of non-HDL cholesterol. For example, familial hypercholesterolemia is a genetic disorder characterized by high LDL cholesterol levels, resulting in more elevated non-HDL cholesterol. Mutations in the LDLR gene can lead to this condition. [7] On the other hand, the heritability of HDL cholesterol is estimated to be 62–77%. However, some people may have lower levels due to genetic conditions, including Tangier disease or familial hypoalphalipoproteinemia. [8,9] Recommendations Regular monitoring of non-HDL cholesterol levels is recommended, especially for individuals with a family history of cardiovascular disease or other risk factors. Engage in physical activity for at least 30 minutes a day, in the best case scenario - most days of the week. Aim for a diet low in saturated and trans fats. Incorporate more fruits, vegetables, whole grains, and lean proteins. Maintain a healthy weight. If overweight, work on gradual weight loss through balanced eating and regular physical activity. Smoking or using other tobacco products can increase LDL cholesterol and lower HDL cholesterol, negatively affecting non-HDL cholesterol levels. A healthcare provider may order additional tests or assessments to better understand the reason behind elevated non-HDL cholesterol levels. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Hepatitis C

- URL: https://macromo.com/blog/blood-infection-markers/hepatitis-c
- Published: 2024-02-21
- Category: blood-infection-markers
- Author: Barbora Hamernikova

Summary Hepatitis C is a viral infection that causes liver inflammation and damage, transmitted through contaminated blood. It is caused by the Hepatitis C virus (HCV). This infection may not show symptoms initially but can lead to serious health problems if left untreated, including cirrhosis and liver cancer. Introduction Hepatitis C has a global presence and is especially prevalent in regions where healthcare practices are inadequate or unsafe medical procedures are common. [1] The disease is primarily contracted through exposure to small quantities of infected blood, often through drug use and needle sharing, unsafe medical procedures, unscreened blood transfusions, or through sexual contact. It can also be passed from a mother to her baby during birth. The infection typically progresses in two stages: acute and chronic . During the acute stage, which occurs within the first 6 months after exposure to the virus, a person may or may not experience symptoms. These can include fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, dark urine, joint pain, and jaundice. In the chronic stage, which develops in the majority of people with the virus, the disease can silently attack the liver for many years without causing symptoms. [2-4] It can lead to serious health problems, including cirrhosis (scarring of the liver), liver cancer, and even death. Diagnosing Hepatitis C can be challenging due to its asymptomatic nature in many individuals. It is often discovered during routine blood tests or after the person has developed severe liver damage. Despite its potentially severe consequences, Hepatitis C is curable with antiviral medications that stop the virus from multiplying within the body, thereby preventing further liver damage. Possible Test Results HCV infection has an incubation period of 14 to 180 days, but symptoms or liver damage may not appear until several months to years after exposure. Therefore, it's recommended to test for HCV around 6-9 weeks after potential exposure, with repeat testing at 6 months if high-risk exposure has occurred. Regular testing is also crucial for those with ongoing risk factors to ensure early detection and treatment. [1,3,5] There are two possible states of your blood test result: positive or negative. Your hepatitis C test is positive . Make sure to get in touch with a healthcare provider immediately for further investigations and to discuss treatment strategies. Hepatitis C can be treated effectively with the proper care. Your hepatitis C test results are negative . Keep it that way by practicing safe behaviors, such as avoiding needle sharing. Regular testing is recommended if you're at risk. Treatment Options Treatment for Hepatitis C has significantly improved over the years, shifting from interferon-based therapies to directly acting antivirals (DAAs). Some commonly used DAAs include sofosbuvir, ledipasvir, velpatasvir, daclatasvir, simeprevir, and others. [6] There are several types of DAAs, including: Protease inhibitors , which block a protein HCV needs to replicate. NS5A inhibitors , which interfere with a protein the virus uses to assemble itself. These medications are often combined, and the goal of treatment is to achieve a sustained virologic response (SVR). This is characterized by the absence of detectable virus in the blood 12 to 24 weeks after the treatment completion. [1,3] The Science Behind Below, you can dive into more detailed information about HCV. Find out how genetics can influence the development of the disease and the molecular mechanisms behind it. Molecular Mechanisms A key factor in the persistence and pathogenesis of the Hepatitis C virus (HCV) is its complex life cycle, which is intrinsically tied to the liver cells, or hepatocytes, of the host. Understanding this life cycle is essential for the development of effective antiviral treatments. HCV begins its life cycle by interacting with specific protein receptors on the surface of a hepatocyte. Afterward, the virus is internalized into the cell through a process known as endocytosis. When a virus enters a liver cell, it sheds its outer layer, exposing its genetic code, a single-stranded RNA. This genetic code is released into the cell's interior, where the cell uses it to create a large protein. The viral RNA is used as a template to synthesize a complementary negative-strand RNA, which in turn serves as a template for generating new positive-strand viral RNA. The newly synthesized positive-strand RNA can be used for translation (forming more viral proteins) or packaged into new viral particles. The assembly phase begins with the newly formed viral RNA and proteins coming together to form immature viral particles. These particles are then sent to the endoplasmic reticulum, which is an organelle involved in the synthesis and transport of proteins and lipids within the cell. Here, they are enveloped in a layer of the host cell membrane. This process matures the virus particles, which are subsequently released from the liver cell to begin the cycle again, invading other hepatocytes. [7] If you are interested in a more detailed explanation of the HCV life cycle, there are many useful resources on the internet. For example: The Hepatitis C Lifecycle Genetics and HCV Some individuals may have a stronger or weaker immune response to viruses due to genetic differences. Research has discovered that a variation in the gene for Interleukin-28B ( IL28B ) can affect one's susceptibility to chronic Hepatitis C infection. [8,9] For instance, one study confirmed that genetic variations can influence the likelihood of HCV infection in a high-risk Chinese population after exposure. [10] Recommendations Prevention is the key. This includes practicing safe injection behaviors by using clean needles and not sharing them. [1,3,4] Regular testing for Hepatitis C, especially for those in high-risk groups, is a crucial aspect to control the disease. Practicing safe sex is also crucial to prevent the spread of infection. For individuals who test positive for Hepatitis C, it's advised to begin antiviral treatment as soon as possible. The treatment regime typically involves directly acting antivirals (DAAs), and the choice of specific drugs depends on various factors, including the HCV genotype and the patient's liver health status. Regular medical check-ups are recommended for monitoring the progression of the disease and early detection of potential complications. Healthy lifestyle choices such as abstaining from alcohol and illicit drugs, avoiding smoking, and maintaining a balanced diet can prevent further liver damage. Pregnant women with Hepatitis C should receive appropriate treatment and follow-up care, as the infection can be transmitted to the baby. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Syphilis

- URL: https://macromo.com/blog/blood-infection-markers/syphilis
- Published: 2024-02-21
- Category: blood-infection-markers
- Author: Barbora Hamernikova

Summary Syphilis is a bacterial infection usually transmitted by sexual contact caused by the bacteria Treponema pallidum . This infection may not show symptoms initially but can lead to serious health problems if left untreated, including complications in the heart and brain. Introduction According to one of the most popular hypotheses, syphilis was first recorded in Europe in the late 15th century, following the Columbian exchange. Its origin, however, remains disputed, with theories suggesting that it might have existed in various forms around the world. [1] The disease is typically contracted through direct contact with a syphilis sore during sexual activities, but it can also be passed from mother to fetus during pregnancy, known as congenital syphilis. The infection is categorized into stages: primary, secondary, latent, and tertiary, each with different symptoms. During the primary stage, a person may develop a single sore (or multiple sores) where the bacteria enter their body. In the secondary stage, symptoms can include skin rash and mucous membrane lesions. The latent stage may show no symptoms, but the bacteria remain in the body. Tertiary syphilis, the most severe stage, can damage multiple organ systems and can occur decades after the initial infection. [2] Syphilis can often be challenging to diagnose because of its ability to present symptoms similar to other diseases - it is also called “the Great Mimicker or Imitator”. However, the disease is detectable through blood tests. [3] Though potentially severe and even deadly if left untreated, syphilis is curable with the appropriate antibiotics, particularly in the early stages. Since the bacteria can lie dormant in the body for years, regular sexual health checks are vital for early detection and treatment. Prevention methods include practicing safe sex and regular testing. A person can fully recover from the infection if diagnosed and treated early. [2,3] Possible Test Results Blood testing for syphilis generally involves two types of tests: a non-treponemal test for screening followed by a treponemal test for confirmation. The incubation period usually takes between 9-90 days from exposure. [4] Non-Treponemal tests detect antibodies produced in response to the cellular damage caused by the syphilis infection rather than to the bacteria itself. These are typically the first tests performed when syphilis is suspected. Two commonly used non-treponemal tests are the Rapid Plasma Reagin (RPR) test and the Venereal Disease Research Laboratory (VDRL) test. However, the test can result in false positives as these antibodies can also be produced in response to other conditions. If the non-treponemal test is positive, a treponemal test is typically done to confirm the diagnosis of syphilis. Treponemal tests detect antibodies that are specific to the T. pallidum . Examples of treponemal tests include the fluorescent treponemal antibody absorption (FTA-ABS) test and the Treponema pallidum particle agglutination assay (TPPA). [5,6] There are two possible states of your blood test result: positive or negative Your syphilis test is positive , indicating a potential infection. Contact your healthcare provider promptly for further evaluation and treatment planning. If your results are positive, contact your current and former sexual partners immediately to prevent further spread of the disease. Your syphilis test result is negative , implying no detected infection. Continue protecting yourself through safe sexual practices and regular testing. Treatment Options The preferred treatment for syphilis, at any stage, is antibiotics, specifically Penicillin G, administered via injection. The type of treatment and the dosage depends on the stage of the disease [4,6-8] : Primary, secondary, or early latent syphilis: A single intramuscular injection of Benzathine penicillin G is usually sufficient to eliminate the infection. Late latent syphilis or latent syphilis: Three doses of intramuscular Benzathine penicillin G, each given one week apart, are typically used. Neurosyphilis, ocular syphilis, and congenital syphilis: These require more intensive treatment, often with intravenous Penicillin G, typically for 10 to 14 days. The Science Behind Below, you can dive into more detailed information about Syphilis. Find out how the molecular mechanisms behind the disease work. Molecular Mechanisms The initial step in the infection process is adhesion, where T. pallidum binds to host cells. The bacteria possess multiple adhesins on its surface, enabling it to attach and penetrate the host tissues. Once attached, the bacteria can invade tissue barriers such as the epithelial lining, allowing it to disseminate throughout the body. The bacteria have evolved many tactics to evade the host's immune response. One such tactic is its unusually low number of surface proteins, which reduces the bacteria's visibility to the immune system. T. pallidum can slow its metabolic rate and enter a dormant state. This allows it to endure when it lacks nutrients or when the host's immune system tries to fight it off, leading to latent syphilis that can last for years or even decades. T. pallidum's components, when recognized by the immune system, can provoke an inflammatory response. This immune reaction leads to the formation of the characteristic syphilis sores and, if the infection remains untreated, can escalate to severe health problems, including neurosyphilis and cardiovascular syphilis. [3,9,10] Recommendations Syphilis is a serious condition that, if left untreated, can lead to severe health complications. Practicing safe sex reduces the risk of getting or spreading syphilis. Regular testing is also crucial, especially for those with multiple sexual partners or in a relationship with someone who has tested positive for syphilis. If the test result is positive. Seek treatment immediately. The preferred treatment for syphilis is antibiotics, typically Penicillin G. Inform all recent sexual partners about the diagnosis so they can be tested and treated if necessary. Avoid sexual activity until the treatment is completed and the healthcare provider confirms that the infection has been cured. Regular follow-up tests are necessary to ensure the infection has been cleared. People diagnosed with syphilis should also be tested for other sexually transmitted infections, including HIV, as the risk factors are similar. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### HIV - Human Immunodeficiency Virus

- URL: https://macromo.com/blog/blood-infection-markers/hiv
- Published: 2024-02-21
- Category: blood-infection-markers
- Author: Barbora Hamernikova

Summary Human Immunodeficiency Virus (HIV) is a virus that attacks the body's immune system, specifically the CD4 cells (T cells), which are crucial for fighting off infections and diseases. If not properly managed, HIV can lead to Acquired Immunodeficiency Syndrome (AIDS), the most severe stage of HIV infection where the immune system is so compromised that it can't fight off common infections and diseases. Introduction Human Immunodeficiency Virus (HIV) is believed to have originated from the transfer of the Simian Immunodeficiency Virus (SIV) from chimpanzees and other monkeys to humans in Central Africa. Over time, the virus gradually mutated to become HIV as we know it today. [1] There are two types: HIV-1 and HIV-2, where HIV-1 is the common strain worldwide. HIV is primarily transmitted through direct contact with certain bodily fluids of an infected person, such as blood, semen, vaginal and rectal fluids, and breast milk. This transmission can happen through sexual behavior, sharing of injection drug equipment, or from mother to child during birth or breastfeeding. To reduce the stigma around HIV, it is essential to understand the virus cannot spread through saliva, sweat, tears, casual contact, swimming pools, etc. The disease progression varies among individuals. Some people may not show symptoms for many years, while others may develop symptoms soon after infection. Early-stage symptoms can include flu-like symptoms, and later-stage symptoms can be more serious, such as rapid weight loss, recurring fever, prolonged swelling of lymph glands, and others. While there is currently no cure for HIV, antiretroviral therapy (ART) can control the virus and prevent transmission. With proper medical care, HIV can be managed as a chronic disease, and individuals with HIV can lead a healthy life for many years and even have an expected lifespan. Regular testing and early detection of HIV are key to managing the disease effectively. [2-4] Possible Test Results HIV is usually detectable after a longer period of time, as the incubation period lasts between 2 and 6 weeks. The general recommendation is to undergo the test 3 months after possible exposure, due to the window period. This window describes the time between the time of probable HIV infection and the expiration of 3 months when HIV positivity cannot be definitively proven or ruled out. [5] There are 3 types of HIV tests: Antibody test. Antibodies are proteins our immune system produces in response to a foreign substance in our body, such as a virus. This test can detect the presence of antibodies to HIV. Most rapid tests and self-tests for HIV use antibodies for detection. Typically, this method can detect the virus in 23 to 90 days postexposure. Antigen/antibody test. Antigens are foreign substances, in this case, parts of the virus, that activate a person’s immune system, also leading to the production of antibodies. This test looks for both antigens and antibodies to HIV in your blood. Typically, HIV antigens, like p24, appear in the bloodstream before antibodies. Using this method, HIV can be detected 18 to 45 days after exposure. Nucleic acid test (NAT). This test looks for the virus itself. It can detect HIV 10 to 33 days postexposure. Typically, the initial test to detect HIV is either an antibody or antigen/antibody test. NAT is not routinely used for screening, however it can provide information about viral load, or how much virus is in your blood. There are two possible states of your blood test result: positive or negative Your HIV test results are positive , indicating the presence of the virus. It's important to remain calm. Contact your healthcare provider immediately for follow-up tests and discussion about treatment options. It is important to remember that HIV is a manageable condition. If your results are positive, contact your current and former sexual partners immediately to prevent further spread of the disease. Your HIV test results are negative , meaning the virus has not been detected in your blood. To maintain this, it is recommended to engage in safe behaviors such as using protection during sexual activities and getting tested regularly. Treatment Options Thanks to decades of thorough research, several treatment options are available now. The primary treatment for HIV is a class of medication known as antiretroviral therapy (ART). The drugs are typically given in combination, to maximize efficiency. ART doesn't cure HIV, but it can control the virus effectively so that it becomes undetectable in blood tests and cannot be passed on to others. [6-8] Nucleoside/nucleotide reverse transcriptase inhibitors (NRTIs) and non-nucleoside reverse transcriptase inhibitors (NNRTIs) block a key virus enzyme known as reverse transcriptase. Protease inhibitors (PIs) block the protease enzyme, preventing the virus from dividing into individual viruses that can infect other cells. Integrase inhibitors prevent the virus's genetic material from integrating into the DNA of the host cell. Entry or fusion inhibitors block the virus from entering the host cell. Alongside ART, people living with HIV may require other treatments to manage symptoms, prevent or treat opportunistic infections, and manage other health conditions. The Science Behind Below you can dive into more detailed information about HIV. Find out how genetics can influence the development of the disease and the underlying molecular mechanisms. Molecular Mechanisms HIV is a retrovirus. A key feature of retroviruses is that they carry their genetic material as RNA rather than DNA. When HIV enters a human cell, it uses an enzyme called reverse transcriptase to convert its RNA into DNA. This is opposite to the usual flow of information in cells, which is from DNA to RNA, and that's why these viruses are called retroviruses. This newly formed DNA, containing the genetic instructions of HIV, is then integrated into the host cell's genome, a process mediated by another viral enzyme, integrase. With this integration, the HIV genetic material essentially becomes part of the host cell's DNA. Consequently, the normal cellular machinery transcribes and translates the integrated viral DNA, producing new virus particles. The final step of the viral cycle involves the viral enzyme protease. It cleaves long protein chains into specific pieces necessary to assemble mature and infectious virus particles. The in-depth understanding of this complex cycle has enabled the development of antiretroviral drugs, such as reverse transcriptase inhibitors, integrase inhibitors, and protease inhibitors. Each of these drugs targets a specific stage in the HIV cycle. [9,10] If you are interested in a more detailed explanation of the HIV life cycle, there are many useful resources on the internet. For example: How the HIV Infection Cycle Works - Animated microbiology Genetics and HIV Genetics can influence a person's susceptibility to HIV infection and progression of the disease once infected, but it's important to note that most of the risk for HIV acquisition comes from behaviors, such as unprotected sex or sharing needles while taking drugs, rather than from genetic factors. For example, individuals carrying two copies of a specific mutation in the CCR5 gene, known as CCR5-delta32 (homozygous), significantly reduced their susceptibility to the most common type of HIV, HIV-1. The CCR5 protein acts as a receptor on the surface of immune cells, allowing HIV to enter and infect the cell. The CCR5-delta32 mutation prevents the normal CCR5 protein from being expressed on the surface of cells, effectively blocking the primary entry point of the virus. [11,12] Another example involves the gene HLA-B , which helps the immune system recognize and destroy infected cells. Some variants of HLA-B appear to slow the progression of HIV to AIDS, while others may speed it up. [13,14] However, it is crucial to keep in mind that only safe and conscious behavior and choices can protect you from this disease. Recommendations The recommendations regarding HIV typically encompass prevention and frequent testing. In case of contagion, it includes treatment and living with the infection [1-4,9] : The primary advice for HIV prevention is to practice safe sexual behavior. This includes using condoms and considering pre-exposure prophylaxis (PrEP) if you are at high risk. Using clean needles and equipment can significantly reduce the risk for those who use injections. Regular testing for HIV and other sexually transmitted infections is also essential to HIV prevention. If someone tests positive for HIV, they should start antiretroviral therapy (ART) and notify their current and former sexual partners as soon as possible. It's recommended that individuals living with HIV maintain regular medical check-ups, continue taking their medications as prescribed, and make healthy lifestyle choices to boost their immune system. Mental health support may also be beneficial. Women living with HIV who are pregnant, planning to become pregnant, or breastfeeding should take ART for their health and to reduce the risk of transmitting HIV to their baby. There is a social stigma surrounding HIV that can cause people to delay or refuse to get tested. However, it is important to overcome these uncomfortable feelings because testing can lead to an early diagnosis, thus preventing the spread of the disease. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Total cholesterol / HDL cholesterol index

- URL: https://macromo.com/blog/blood-heart-health/chol-hdl-index
- Published: 2024-02-21
- Category: blood-heart-health
- Author: Barbora Hamernikova

Summary The Cholesterol to High-Density Lipoprotein (Chol/HDL) index, also known as the atherogenic index, is an important indicator of heart health. High levels of the Chol/HDL index suggest an increased risk of developing heart disease, as it means that there is a higher proportion of total cholesterol to "good" cholesterol, which is HDL. Low levels of the Chol/HDL index are generally healthier, indicating a lesser risk of heart disease. Overview This index is calculated by dividing the total cholesterol by the high-density lipoprotein (HDL) level, often known as the "good" cholesterol. A high Chol/HDL index indicates a higher proportion of total cholesterol to HDL, typically associated with an increased risk of heart disease. This could be due to conditions like metabolic syndrome, diabetes, or obesity, which are known to affect cholesterol levels negatively. Regular monitoring and appropriate management of cholesterol levels are critical in preventing heart disease. A low Chol/HDL index is generally considered healthy and suggests a lower risk of developing heart disease. It means there is more "good" cholesterol that can remove "bad" cholesterol (LDL) from your bloodstream, thus helping to prevent the buildup of plaque in your arteries. [1-3] What should you know about this biomarker? Reference ranges often vary between laboratories because they use different approaches to calculate the result. [4,5] The optimal Chol/HDL index is usually reported as less than 5 . For those at risk, keeping the index below 4 is recommended , while prognostically favorable results are associated with a value below 3.5 . In Macromo, we use the equation written below for the calculation of the result: Total Cholesterol HDL Cholesterol = Chol/HDL index Here are examples of the calculation: Your total cholesterol level = 6 mmol/l Your HDL cholesterol level = 1 mmol/l 6 ÷ 1 = 6 Your Chol/HDL index = 6 Thus an elevated risk of developing cardiovascular conditions. Your total cholesterol level = 3 mmol/l Your HDL cholesterol level = 1.5 mmol/l 3 ÷ 1.5 =2 Your Chol/HDL index = 2 Meaning that your risk of developing cardiovascular conditions is low. Your blood test could indicate one of several potential outcomes. Your Chol/HDL index is low, indicating a favorable balance between cholesterol and HDL (good) cholesterol levels. This suggests a lower risk of cardiovascular disease. Your Chol/HDL index falls within the average range. This indicates a moderate balance between cholesterol and HDL (good) cholesterol levels. Your Chol/HDL index is above the normal range, indicating an imbalance between cholesterol and HDL (good) cholesterol levels. This suggests a higher risk of cardiovascular disease. Genetics Genetics plays a crucial role in developing conditions such as obesity, overeating, and diabetes, which in turn contribute to increased cholesterol levels. A genetic disorder called familial hypercholesterolemia (FH) is a direct cause of high cholesterol. FH leads to a noticeable spike in LDL cholesterol levels, resulting in the early development of heart disease, often affecting individuals at a young age. The genetic basis of FH lies in modifications in the LDL receptor gene ( LDLR ). This gene encodes a protein that removes LDL cholesterol from our bloodstream. When this gene is affected, it is unable to perform its task efficiently, thereby causing an increase in LDL cholesterol levels. [6] The heritability of HDL cholesterol is estimated to be about 62–77%. Certain individuals can have low HDL cholesterol due to genetic factors, such as Tangier disease (mutation in ABCA1 gene) or familial hypoalphalipoproteinemia. [7,8] Recommendations If the Chol/HDL index is higher than optimal, it is important to consider the following recommendations. [9] : Choose a balanced diet rich in fruits, vegetables, whole grains, lean proteins, and good fats. Minimize your intake of sugar, salt, and unhealthy fats, and focus on fiber-filled foods that offer plenty of vitamins and antioxidants. Regular exercise aids in weight loss, boosts metabolism, and reduces body inflammation. It is also a powerful tool to maintain your overall health. Adhere to any prescribed medication and ensure you have regular health check-ups. These routine medical visits serve as a preventive measure to safeguard your health. Actively manage stress levels because uncontrolled stress can negatively impact your body's defense mechanisms. If you're a smoker, quitting will not only improve your overall health but also increase HDL cholesterol, which aids in the removal of LDL cholesterol from your vessels. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Total Bilirubin

- URL: https://macromo.com/blog/blood-liver-and-kidney/total-bilirubin
- Published: 2024-02-21
- Category: blood-liver-and-kidney
- Author: Anna Fiserova

Summary Total bilirubin, a blood biomarker, measures bilirubin levels, reflecting liver function and bile duct health. Abnormally high levels may indicate conditions like hepatitis, cirrhosis, or hemolytic anemia, while low levels are typically less concerning but can occur due to certain medications. Overview Total bilirubin represents the aggregate amount of direct and indirect bilirubin in the body, products of red blood cell catabolism (breaking down complex molecules into simpler ones.). Bilirubin is a yellowish substance made during your body's normal process of breaking down old red blood cells. It is found in bile, a fluid your liver makes that helps you digest food. High bilirubin levels, or hyperbilirubinemia, can suggest liver or gallbladder disease, blockage of the bile ducts, or accelerated breakdown of red blood cells. Symptoms can include jaundice (yellowing of the skin), dark urine, or light-colored stools. Conversely, low bilirubin levels, though not usually a cause for concern, might occur due to the effect of certain drugs. The total bilirubin test is an important part of the liver panel, offering insight into liver function and potential disease states. [1,2] Bilirubin monitoring is also essential in newborns, as elevated levels can lead to hyperbilirubinemia, resulting in jaundice. [7] Newborn jaundice is usually not harmful and clears up within a few weeks. But in some cases, high bilirubin levels can lead to more serious problems, so infants are often tested as a precaution. What should you know about this biomarker? Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use µmol/l (micromol per liter), but you can also find the levels expressed in mg/dl (milligrams per deciliter). Normal total bilirubin levels range from 3-21 µmol/l. Lower bilirubin levels are typically not considered a problematic situation. They can be caused by strenuous exercise or drugs like barbiturates, penicillin, NSAIDs (nonsteroidal anti-inflammatory drugs), or caffeine. Bilirubin levels may vary depending on factors such as age, sex, and individual characteristics. [3] In clinical practice, total bilirubin test results are evaluated with other liver markers such as ALT, AST, or ALP. There are three possible states of your blood test result: low, average, and high levels. The level of total bilirubin is under the reference range. This is usually not something to be concerned about, but consult your doctor if you notice anything unusual. The level of total bilirubin is within the standard range, which is a sign of good health. The level of total bilirubin is above the standard range, which may indicate potential liver, gall bladder or blood problems. Genetics Our genetic makeup can play a role in dictating our total bilirubin levels. Two genetically inherited conditions, namely Gilbert's syndrome and Crigler-Najjar syndrome, are examples of how genetic variations can impact bilirubin metabolism, leading to varying bilirubin concentrations in the bloodstream. Gilbert's syndrome, a common and benign condition, stems from a minor genetic change that affects the liver's ability to process bilirubin efficiently. This leads to elevated bilirubin levels. However, most individuals with Gilbert's syndrome remain asymptomatic or experience only mild jaundice. [4] On the end of the spectrum, there is Crigler-Najjar syndrome. It is a rare and more severe genetic disorder that occurs when the body lacks the necessary enzyme to transform bilirubin into an easily excreted form. The resulting high bilirubin levels lead to pronounced jaundice and can trigger severe health complications. [5] Therefore, our genes can influence the total bilirubin concentrations within our bodies. [6] Recommendations When total bilirubin levels fall outside the normal range, it's essential to consider the following recommendations: An abnormal total bilirubin level should be confirmed with repeated testing to rule out any lab errors. Elevated bilirubin levels can indicate several conditions, such as liver diseases, bile duct blockage, or excessive hemolysis. Though less common, low levels may arise from certain conditions or medication effects. Physicians may recommend additional tests to pinpoint the cause. If an inherited condition like Gilbert's syndrome or Crigler-Najjar syndrome is suspected, genetic testing might be suggested. If liver disease is present or suspected, reducing alcohol intake can help protect the liver. Eating a balanced diet and maintaining a healthy weight supports overall liver health. Engaging in regular physical activity can contribute to maintaining a healthy weight and liver function. Evaluate current medications and supplements, as some can influence bilirubin levels. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Albumin

- URL: https://macromo.com/blog/blood-protein-profile/albumin
- Published: 2024-02-21
- Category: blood-protein-profile
- Author: Barbora Hamernikova

Summary Albumin, the most abundant protein in blood plasma, is a vital human marker used in medical diagnostics and research. It is produced in the liver and maintains osmotic pressure, transports substances and regulates pH levels. Albumin levels indicate overall health, liver/kidney function, nutritional status, and disease progression. Overview Albumin, a highly significant human marker, is present in high concentrations in blood plasma and serves as an essential protein with diverse clinical applications. Comprising about 60% of total plasma proteins, albumin plays a crucial role in facilitating the transport of various substances, like enzymes, hormones, and vitamins throughout the body. It also is essential to maintain osmotic pressure, pulling fluid back into your blood vessels. Without enough albumin, fluid can leak out of your blood and build up in your lungs, abdomen (belly), or other parts of your body. Low levels of albumin can result from various conditions. Liver disease, like cirrhosis, or hepatitis, and malnutrition, can lead to a lower production of albumin. Kidney disease can result in excessive albumin excretion in the urine. Other conditions, such as inflammation, infections, burns, or thyroid disease, can also lead to reduced albumin levels. This phenomenon is more commonly associated with chronic conditions rather than acute ones. Elevated levels could indicate dehydration, which might be a result of severe diarrhea or other underlying conditions. Clinicians and researchers utilize albumin as a valuable tool for diagnosing, monitoring, and assessing various medical conditions. [1,2] What should you know about this biomarker? Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use g/l (grams per liter). Normal albumin levels typically range from 35 to 52 g/l for healthy adults. However, the ideal levels of albumin may differ depending on factors such as an individual's age, sex, and overall health status. [3] There are three possible states of your blood test result: low, average, and high levels. When your albumin level is below the reference range, it usually indicates a problem with the liver or kidneys. It is essential to consult your physician and undergo additional tests. When your albumin level is within the reference range, that is the desired result. When your albumin level is higher than the reference range, it may indicate dehydration or other health problems. It is important that you contact your doctor and have a thorough examination. Genetics Variations in the genes that govern liver function, protein synthesis, and albumin production can potentially affect the levels of albumin in the body. For example, congenital analbuminemia is a rare autosomal recessive disease when the affected people suffer from decreased concentration, or complete absence, of serum albumin. [4] A genome-wide association study conducted in 2021 identified new genetic loci associated with hypoalbuminemia. In addition, this study also looked at the relationship between these genetic variants and the risk of hypertension. The results show that hypoalbuminemia is a marker of early-onset hypertension. [5] Recommendations When albumin levels are found to be outside of the normal range, it is important to consider further evaluation and potential interventions: Low Albumin Levels: It is essential to consult your healthcare provider. They can take thorough examinations and additional tests. Assess nutritional status and ensure adequate protein intake. High Albumin Levels: Consult your doctor to investigate potential underlying causes. Assess hydration status and ensure adequate fluid intake. Monitor albumin levels over time to track progress and adjust interventions as needed. Ensure regular follow-up to assess the effectiveness of interventions and make necessary modifications. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Anti-TPO - Anti-Thyroid Peroxidase Antibodies

- URL: https://macromo.com/blog/thyroid-function/anti-tpo
- Published: 2024-02-21
- Category: thyroid-function
- Author: Barbora Hamernikova

Summary Thyroid peroxidase (TPO) is an enzyme that plays a key role in producing thyroid hormones. The measurement of anti-TPO antibodies is often used as an indicator of thyroid diseases, specifically autoimmune thyroid diseases. Overview Antibodies are protective proteins that are part of the immune system. However, sometimes, they attack your body cells, producing autoimmune responses. The TPO enzyme is integral to the synthesis of thyroid hormones. Anti-TPO antibodies can disrupt this process, damaging the thyroid cells. When thyroid hormone production is affected, it can lead to various health problems, ranging from hypothyroidism to hyperthyroidism. [1] Increased levels of anti-TPO antibodies in the blood is typically a sign of autoimmune thyroid disorders, such as Hashimoto's and Graves' diseases. What should you know about this biomarker? Like other biomarkers, anti-TPO is not only a diagnostic tool but also a prognostic indicator. Increased levels of anti-TPO may indicate a health issue, such as Hashimoto's thyroiditis or Graves' disease. However, anti-TPO antibodies can also be an early marker of future thyroid dysfunction, even before changes in traditional thyroid markers such as TSH and FT4 are observed. [1] Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use kUl/l (kilounits per liter), but you may also find values in IU/ml (international units per millimeter) on the internet. Optimal anti-TPO (antibodies to TPO) levels vary depending on age, gender, and health status. However, typically, the reference range is under 34 kU/L. There are two possible states of your blood test result: positive and negative. [2] A positive result will confirm the presence of TPO antibodies. Your doctor may order more tests to confirm the diagnosis of thyroid disease or to determine the cause and stage of your condition. A negative anti-TPO antibody test is considered normal. The thyroid peroxidase antibodies can't be too low. Genetics Genetics may have the potential to affect circulating anti-TPO levels. Genetic changes affecting the TPO gene can lead to congenital hypothyroidism, characterized by very low levels of thyroid hormones from birth. [3] In a large population study focused on middle-aged and elderly people, it was discovered that female sex and current smoking status are significantly connected to detectable and positive levels of TPO antibodies. [4] Recommendations If your test results are outside the reference range, it is good to take some of the steps listed below: Consider making changes to your lifestyle. This may include maintaining a balanced diet, exercising regularly, avoiding smoking, and managing stress. Make sure to stay properly hydrated, as hydration can indirectly support thyroid function. Your doctor may order more tests to confirm the diagnosis of thyroid disease or to determine the cause and stage of your condition. If you've been prescribed medication to manage your thyroid function or other related conditions, adhering to the prescribed regimen is crucial. Monitor and report any new or worsening symptoms, such as fatigue, weight changes, hair loss, mood changes, heat or cold intolerance, change in bathroom habits, etc. If planning a pregnancy, close monitoring is required. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Magnesium

- URL: https://macromo.com/blog/blood-vitamins-and-minerals/biomarker-magnesium
- Published: 2024-02-21
- Category: blood-vitamins-and-minerals
- Author: Barbora Hamernikova

Summary Magnesium is a vital mineral that plays a role in various physiological functions. From supporting muscle and nerve function to maintaining a healthy heart rhythm, magnesium is essential for overall well-being. Monitoring magnesium levels through blood tests is imperative to assess nutritional status and potential deficiencies. Overview Magnesium is involved in many biochemical processes that contribute to the proper functioning of the body. It is integral to muscle and nerve function, energy production, and maintaining a stable heart rhythm. The body obtains magnesium through dietary sources, and its levels can be measured through blood tests. Evaluating and understanding magnesium levels is crucial for assessing an individual's nutritional health. Adequate magnesium levels are necessary to support muscle and nerve function, prevent cardiovascular issues, and promote overall wellness. [1-3] What should you know about Magnesium? The optimal range in blood is usually between 0.67-0.89 mmol/l (15-20 years) and 0.75-0.95 mmol/l (20-99 years). [4] Deviations from the recommended magnesium levels, whether lower or higher, may indicate an imbalance. Keeping magnesium in the optimal range is essential for overall health. Adequate magnesium levels support muscle and nerve function, and the immune system. Adequate magnesium intake helps protect against muscle cramps and fatigue. There are several possible states of your blood test result: Low Levels Lowered levels of magnesium may potentially lead to symptoms such as muscle cramps, tremors, and irregular heart rhythms. Seeking guidance from a healthcare provider for further evaluation and appropriate action is advisable. Optimal Levels Maintaining magnesium levels within this range is important for supporting various bodily functions. High Levels Excessive elevation of magnesium levels can occur in rare cases and may result in symptoms such as nausea, vomiting, and lethargy. If high levels are detected, it is crucial to consult a healthcare provider promptly for a thorough evaluation. Genetics Genetics can contribute to individual differences in magnesium levels. Several studies have shown that genetic factors play a role in the regulation of magnesium homeostasis. For example, a study on African Americans and European Americans identified genetic loci (locus is a place within the chromosome, where a specific gene or polymorphism is located) associated with serum magnesium levels. [5] Furthermore, the researchers have identified various inherited types of hypomagnesemia. These include genetic mutations in TRPM6 , claudin 16, and CNNM2 . [6] Recommendations If your magnesium levels are not within the optimal range, there are several recommendations: [1-3] Dietary sources: Increase your intake of magnesium-rich foods such as leafy green vegetables, nuts, seeds, whole grains, and legumes. Supplements: If your magnesium levels are significantly low, your healthcare provider may recommend magnesium supplements. It's important to follow their guidance on dosage and duration. Limit caffeine and alcohol: Excessive consumption of caffeine and alcohol can interfere with magnesium absorption. Moderation is key. Stay hydrated : Proper hydration supports overall health, including magnesium balance. Drink an adequate amount of water throughout the day. Manage stress: Chronic stress can deplete magnesium levels. Incorporate stress-reducing activities such as meditation, deep breathing, or yoga into your routine. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult your physician before making any decisions regarding your health. Our tests are not intended to diagnose or treat disease. Individual results may vary and should be consulted with your general practitioner or specialist.

### Vitamin D (Calciferol)

- URL: https://macromo.com/blog/blood-vitamins-and-minerals/vitamin-d-calciferol
- Published: 2024-02-21
- Category: blood-vitamins-and-minerals
- Author: Barbora Hamernikova

Summary Vitamin D is a fat-soluble nutrient important for various bodily functions. It plays a vital role in bone health, immune function, and overall well-being. Understanding the role of vitamin D and monitoring its levels in the blood are essential. Overview Vitamin D is a crucial fat-soluble vitamin that supports and affects many biological processes in the human body. While it is primarily known for its role in calcium absorption and bone health, it also influences the immune system, muscle function, and cell growth. The body can produce vitamin D when exposed to sunlight and can also obtain it from dietary sources and supplements. Thanks to the body's ability to produce vitamin D during sun exposure, lower levels of vitamin D are not so common in months with a lot of sunny days (typically summer), whereas in months with less sunny days (typically winter), lower levels of vitamin D are fairly common. Monitoring vitamin D levels is necessary for evaluating an individual's nutritional health. Adequate levels are necessary to maintain strong bones, prevent bone disorders like rickets or osteoporosis, and support immune system function. [1-3] What should you know about Vitamin D? Knowing the optimal range of vitamin D levels in the blood is essential for evaluating an individual's nutritional health. Typically, the recommended vitamin D levels for most adults range from 75-250 nmol/l, though minor variations may exist between different laboratories. [4] There are more possible levels of your blood test result: Low Levels Inadequate levels of vitamin D may raise concerns, potentially manifesting as fatigue or muscle weakness. Seeking guidance from a healthcare provider for further evaluation and appropriate action is advisable. Optimal Levels Maintaining vitamin D levels within this range, typically between 50-125 nmol/l, is crucial to support various bodily functions. Adequate vitamin D levels ensure efficient calcium absorption, promoting strong bones and teeth. Additionally, optimal levels contribute to the well-functioning of the immune system, muscle strength, and overall vitality. High Levels Prolonged or excessive elevation of vitamin D levels can lead to conditions such as hypercalcemia, characterized by symptoms like nausea, vomiting, weakness, and confusion. If high levels are detected, it is crucial to consult a healthcare provider promptly for a thorough evaluation. Genetics Ethnicity plays a significant role in the genetics of vitamin D levels. Certain ethnic groups, particularly those with African, African American, or Afro-Caribbean ancestry, are more susceptible to variations in vitamin D levels due to genetic factors. [5] Genetic variations in key genes like the family of cytochrome P450 enzymes ( CYP2R1, CYP27A1, CYP27B1, CYP24A1 ) can impact the metabolism, activation, and transport of vitamin D. These genetic differences can influence an individual's ability to produce and utilize active vitamin D. Researchers are continually investigating these genetic pathways, using advanced techniques like genome-wide association studies (GWAS), to deepen our understanding of the role genetics and environmental factors play in determining vitamin D levels. [6] Recommendations If your vitamin D levels are not within the optimal range, there are several recommendations: [7] Genetic Profiling Understanding genetic variations impacting vitamin D metabolism is useful. Genetic testing can identify specific polymorphisms (a common change in the genetic code) related to vitamin D synthesis, absorption, and utilization. Sun Exposure To maximize vitamin D production, moderate sun exposure is advisable depending on geographic location, season, and skin type. However, remember to use sunscreen to protect your skin. Diet and Supplements Incorporate vitamin D-rich foods into your diet, such as fatty fish (salmon, mackerel), fortified dairy products, eggs, and mushrooms. Consult a doctor about the possibility of taking supplements. Regular Monitoring Periodically check your vitamin D levels through blood tests, especially if you have known deficiencies or conditions that may hinder its absorption. Adjust your supplements or sun exposure based on test results. Consult a Healthcare Professional If your levels remain consistently low or do not improve with dietary adjustments and supplements, consult a healthcare professional for further evaluation and personalized recommendations. Exercise and Healthy Lifestyle Engage in regular physical activity and maintain a healthy lifestyle. Exercise can positively influence vitamin D levels and overall well-being. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Triacylglycerides

- URL: https://macromo.com/blog/blood-heart-health/triacylglycerides
- Published: 2024-02-21
- Category: blood-heart-health
- Author: Barbora Hamernikova

Summary Triacylglycerides, also known as triglycerides, are a type of fat found in your blood. Your body uses them for energy. If you eat more calories than you need, your body turns the extra calories into triglycerides and stores them in your fat cells to use later. High levels of triacylglycerides suggest an increased risk of developing heart disease. Lower triacylglyceride levels are typically healthier and indicate a lesser risk of heart disease. Overview High triacylglyceride levels are often associated with an increased risk of cardiovascular diseases, such as stroke, peripheral artery disease, or heart attack. This could be due to conditions like metabolic syndrome, diabetes, or obesity, which are known to affect triacylglyceride levels negatively. Extremely high levels of triglycerides can lead to acute pancreatitis, a condition in which the pancreas becomes inflamed over a short period of time. Certain lifestyle factors, such as a diet high in carbohydrates and fats, lack of physical activity, smoking, and excessive alcohol use, can also elevate these levels. Regular monitoring and appropriate management of triacylglyceride levels are critical in preventing heart disease. Low triacylglyceride levels are generally healthier and suggest a lower risk of heart disease. It indicates that the body is efficiently using these fats for energy, not storing excessive amounts. [1] What should you know about this biomarker? There are many resources and ways that describe the optimal levels. However, each laboratory uses different machines and protocols, so the results might differ in the reference ranges or used units of measurement. In Macromo blood tests, we use mmol/l (millimole per liter) units, but you can also find levels given in mg/dl (milligrams per deciliter). The normal range of triacylglycerides is usually about 0.45 to 1.7 mmol/l. Levels above 2 mmol/l are elevated, and values around and above 5 mmol/l are considered very high. Levels outside the reference range increase the risk of heart disease [2] . There are three possible test results: low, average, and high levels. Your triacylglyceride levels are below the reference range, which can be a positive sign for cardiovascular health. Your levels of triacylglycerides are within normal range. This indicates a balanced level of fats in the blood, which is associated with a general risk of cardiovascular disease. Your triacylglyceride levels are above the normal range, which indicates an excess of fats in your blood and a higher risk of developing cardiovascular disease. Genetics Genetics can significantly impact triglyceride levels. Certain genetic mutations can affect the way the body metabolizes fats, leading to higher levels of triglycerides in the bloodstream. One of the conditions closely linked with high triglyceride levels is familial hypertriglyceridemia. This genetic disorder hinders the body's ability to break down triglycerides efficiently, leading to their accumulation in the blood. [3] Familial combined hyperlipidemia is another hereditary condition which causes an elevation in both triglycerides and low-density lipoprotein (LDL), colloquially known as "bad" cholesterol. This disorder escalates the risk of premature heart disease. [4] In rare instances, genetics may lead to disorders like lipoprotein lipase (LPL) deficiency or apolipoprotein C-II deficiency. In LPL deficiency, the body doesn't produce sufficient amounts of an enzyme crucial for breaking down triglycerides, resulting in markedly high triglyceride levels. [5] Aside from these specific genetic conditions, minor genetic variations known as polymorphisms can also influence triglyceride levels. These variations can contribute to slightly higher or lower triglyceride levels among different individuals. Therefore, if a close family member has high triglyceride levels, there may be a genetic predisposition, and other family members might be similarly affected. [6] Recommendations If the levels of triglycerides are higher than the optimum, it is wise to consider implementing the following recommendations.: Choose a balanced diet filled with fruits, vegetables, whole grains, lean meats, and healthy fats. Keep consumption of sugar, salt, and harmful fats to a minimum, emphasizing fiber-rich foods that are a good source of essential vitamins and antioxidants. Engage in regular physical activity as it aids in weight management, boosts metabolic functions, and decreases inflammation in the body. Stay committed to taking any prescribed medications, and schedule routine health screenings. Actively manage stress levels, recognizing that unmanaged stress can adversely affect your body's immune system. If you are a smoker, commit to quitting. Aside from improving general health, this step can also increase the levels of HDL ("good") cholesterol, instrumental in removing LDL ("bad") cholesterol from your arteries. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Conjugated Bilirubin

- URL: https://macromo.com/blog/blood-liver-and-kidney/conjugated-bilirubin
- Published: 2024-02-21
- Category: blood-liver-and-kidney
- Author: Barbora Hamernikova

Summary Conjugated bilirubin, a component of total bilirubin, is a type of bilirubin processed by the liver for excretion. Elevated levels of conjugated bilirubin can indicate issues with the liver's ability to excrete bilirubin or problems with bile flow. Conditions like cirrhosis, hepatitis, or bile duct obstruction could cause such elevations, while typically, low levels are not clinically significant. Overview Conjugated bilirubin, also known as direct bilirubin, is bilirubin metabolized by the liver to be excreted into the bile. It can also be referred to as direct bilirubin because it can be measured directly. On the other hand, unconjugated (indirect) bilirubin is calculated by subtracting the value of conjugated bilirubin from total bilirubin. High levels of conjugated bilirubin, a form of hyperbilirubinemia, can indicate a problem with the liver's ability to secrete bilirubin into the bile or an obstruction in the bile ducts preventing the flow of bile into the digestive system. This could be due to conditions such as liver cirrhosis, hepatitis, or a blockage in the bile ducts. Elevated conjugated bilirubin often leads to symptoms like jaundice (a yellowing of the skin and eyes), dark urine, and light-colored stools. On the other hand, low levels of conjugated bilirubin are generally not a cause for concern and can occur due to normal physiological variations or under the effect of certain medications. [1,2] What should you know about this biomarker? Each laboratory uses different machines and protocols, so the results might vary in terms of the reference ranges or used units of measurement. In Macromo blood tests, we use µmol/l (micromol per liter). Optimal levels of conjugated bilirubin typically range from 1.5 to 5 µmol/l. High levels can suggest liver disease, biliary obstruction, or other conditions that affect the liver's ability to expel bilirubin. Low levels are not usually a cause for concern and may be seen in healthy individuals. [3] Your blood test can show distinct result possibilities: The levels of conjugated bilirubin are low, which is generally not a cause for concern. The levels of conjugated bilirubin are within the reference range, which is the desired result. The levels of conjugated bilirubin are above the reference range. While this isn't a cause for immediate alarm, contact your healthcare provider, also in case you notice any yellowing of the skin or eyes. Genetics Genetics can impact conjugated bilirubin levels in the blood. Certain genetic disorders can result in abnormally high or low levels of this compound, leading to a range of potential health issues. Gilbert's Syndrome is a condition that typically affects levels of unconjugated or indirect bilirubin. It's a common genetic disorder that affects bilirubin metabolism. People with Gilbert's Syndrome have a reduced level of an enzyme called uridine diphosphate glucuronosyltransferase (UGT1A1). This enzyme is responsible for converting unconjugated bilirubin into the conjugated form. [4,5] In Dubin-Johnson Syndrome, there is a mutation in the ABCC2 gene, which reduces the liver's ability to secrete conjugated bilirubin into bile. As a result, conjugated bilirubin builds up in the liver and spills over into the blood. Rotor syndrome also presents with increased conjugated bilirubin, but the exact genetic cause is a bit more complex, involving mutations in both the SLCO1B1 and SLCO1B3 genes. [6] Recommendations When conjugated bilirubin levels fall outside the normal range, it's important to consider the following recommendations [7] : To rule out genetic conditions like Dubin-Johnson Syndrome, Rotor Syndrome, or others, genetic testing may be advised. Depending on the test results, you might be referred to a gastroenterologist or hepatologist specializing in liver diseases. A balanced diet rich in fruits, vegetables, lean proteins, and whole grains can support liver health. Staying properly hydrated helps maintain optimal bodily function, including the liver and digestive processes. Excessive alcohol consumption can cause liver damage and affect its ability to function properly, including its capacity to process and excrete bilirubin. Reducing or eliminating alcohol intake can be beneficial. Regular physical activity can improve overall health and help maintain a healthy weight, supporting liver function. Smoking can lead to liver damage and various other health issues. If you smoke, quitting will likely improve your health. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### HbA1c - Glycated hemoglobin

- URL: https://macromo.com/blog/blood-metabolic-health/hba1c
- Published: 2024-02-21
- Category: blood-metabolic-health
- Author: Barbora Hamernikova

Summary HbA1c is a type of hemoglobin protein found in red blood cells, responsible for transporting oxygen throughout the bloodstream. In laboratory practice, it is used to detect and monitor prediabetes and diabetes. Overview HbA1c, also known as glycated hemoglobin, is a crucial biomarker that comes into play when glucose, or sugar, in your blood, combines with hemoglobin. This attachment forms HbA1c. Interestingly, the amount of HbA1c in your blood is directly proportional to your blood sugar levels – the higher they are, the more HbA1c you'll find in your bloodstream. What makes HbA1c particularly significant is its ability to reflect your average blood sugar levels over an extended period, typically the past two to three months. This characteristic makes it a valuable tool for the diagnosis and monitoring of diabetes, a condition characterized by the body's inability to either properly utilize or produce insulin - the hormone essential for transporting glucose into your cells. [1,2] What should you know about this biomarker? Tracking your HbA1c over time can help you and your doctor assess how well you are managing your diabetes and determine whether you need to adjust your treatment plan. HbA1c can be expressed as the percentage of red blood cells that have glucose-coated hemoglobin. The normal range of HbA1c for most people without diabetes is 20 - 42 mmol/mol. If your HbA1c is between 42 - 47.5 mmol/mol, you may have prediabetes, which means you have a higher risk of developing diabetes in the future. If your HbA1c is 47.5 mmol/mol or higher, you may have diabetes. [3] There are more possible states of your blood test result: If your HbA1C level is lower, it isn't typically a problem unless you're experiencing symptoms such as fatigue or dizziness. Consult your healthcare provider if you have concerns. If your HbA1c result is within the optimal range it shows that the blood sugar control is working properly. If your HbA1c result is higher than the reference range, it indicates higher blood sugar levels. High levels may indicate prediabetes or diabetes, so it is important to consult your healthcare provider. Furthermore, for people diagnosed with diabetes, higher levels of HbA1c indicate a greater risk of developing complications. Genetics Genetics can also influence HbA1c levels. Studies have managed to point out multiple genetic loci that are associated with HbA1c, and this includes not only genes that are intimately tied to glucose metabolism but also those that pertain to the hemoglobin molecule itself. A Genome-Wide Association Study (GWAS) discovered that a specific variant in the G6PD gene is associated with reduced HbA1c levels, particularly among African Americans. This is an important discovery, as it implies that the diagnosis of Type 2 Diabetes (T2D) in this population could potentially be less effective due to the naturally lower levels of HbA1c resulting from this genetic variation. [4] Recommendations If your HbA1c is outside the normal range, consider making some changes to your lifestyle. [5] Maintain a healthy diet that is low in added sugar, refined carbohydrates, and saturated fat, and high in fiber, lean protein, and healthy fats. Choose foods that have a low glycemic index, indicating they do not raise your blood sugar level too quickly or too much. Increase your physical activity to at least 150 minutes of moderate-intensity exercise or 75 minutes of vigorous-intensity exercise per week. Exercise can help lower your blood sugar level, improve insulin sensitivity, and reduce risk of cardiovascular disease. Take medication if prescribed by your doctor. Follow your doctor's instructions on how and when to take your medication, and check your blood sugar level regularly. Manage your stress levels, as stress can affect your well-being. Try to find healthy ways to cope with stress, such as meditation, yoga, breathing exercises, or talking to someone you trust. Quit smoking if you are a smoker, as smoking can worsen your blood sugar control and increase the risk of heart disease, stroke, and other problems. The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Osteoarthritis

- URL: https://macromo.com/blog/diseases-risks/osteoarthritis
- Published: 2024-02-20
- Category: diseases-risks
- Author: Nuno Lemos

Overview Osteoarthritis is a disorder of the joints characterized by degeneration of the articulation complex – cartilage, subchondral bone and synovium – causing, most notably, pain and stiffness. It mainly affects weight-bearing joints such as the knee, hip and hands. The cartilaginous breakdown leads to narrowing of joint space and contact between the two ends of the bones composing one joint, causing mechanical stress and the associated palette of symptoms. Classification is made according to the underlying cause and divided into: - Primary/idiopathic OA – when there is no identifiable cause - Secondary OA – known disorders e.g. hemochromatosis, congenital disorders of joints, diabetes. The resulting pathology does not differ between these two types. Prevalence & Risk factors Worldwide, there is a large and increasing impact of osteoarthritis and over 500 million people are affected by this condition.[5] The most common risk factors involved in the pathogenesis of OA include age > 55, female sex, obesity, joint overload due to trauma or chronic repeated activity. Genetics There is strong correlation to genetic factors, as seen in up to 60% of all OA cases. The polygenic inheritance implies that multiple genes are involved and severity of the disease is dependent on the interactions of the different genetic factors. Signs & Symptoms The symptomatology of this condition is broad. Pain is the most prominent symptom during or after exertion and it is relieved by rest. Joint stiffness and restricted range of motion are common, especially in the morning lasting less than 30 minutes, or after resting. A crackling noise called “crepitus” may be heard upon movement of the arthritic joint. Although any joint can be affected, they are usually asymmetrically involved, which is an important sign for the differentiation of other arthritic disorders. These symptoms are greatly aggravated by activity or vigorous exercise, although rest is a relieving action, the disease may eventually progress to the point where the pain is so intense that it wakes one up during the night. Diagnosis Its diagnosis is predominantly based on the patient's history, typical clinical features and it is supported by radiological evidence of joint degeneration. The radiographic signs show irregular joint space narrowing and a reduction of the cartilaginous zone in the articulation. Osteophytes, which are bone spurs, are very common to be present in these arthritic areas. Further testing such as performing an arthroscopy or arthrocentesis is typically unnecessary. Therapy Currently, there is no cure for OA and once diagnosed it will likely worsen over time. The treatment of this disorder is symptomatic and consists of minimizing pain using nonsteroidal anti-inflammatory drugs (NSAIDs) and possibly intra-articular glucocorticoid injections, lifestyle changes such as exercising, diet and keeping the patient active. Surgical management might be indicated if conservative measures fail, e.g. complete or partial joint replacement with an endoprosthesis. Prevention The best way to prevent OA is by maintaining healthy habits such as regular exercising, being active every day, controlling blood sugar levels and preventing any joint injury. In addition, it is recommended to limit the work done by the affected joints. Prognosis The condition has no cure for the moment and therefore cannot be reversed. The prognosis will vary upon the comorbidities of each patient and the goal is to slow the progression of the disease by controlling both symptoms and comorbidities. Simple lifestyle changes will improve the prognosis. Recommendations If you experience joint pain during or after activities that is relieved with rest as well as morning stiffness lasting less than 30 minutes, you should visit a orthopedist Improve your health by exercising every day Avoid excessive joint overload Follow a healthy diet to avoid becoming obese

### Glaucoma

- URL: https://macromo.com/blog/diseases-risks/glaucoma
- Published: 2024-02-20
- Category: diseases-risks
- Author: Nuno Lemos

Observed genes Polygenic score Influential genes: CDKN2B-AS1,ARHGEF12,PLEKHA7 Variations in the CDKN2B-AS1 gene region have been linked to an increased risk of glaucoma. Genetic variations in the ARHGEF12 gene have been associated with glaucoma susceptibility. Variants in the PLEKHA7 gene have been strongly associated with primary open-angle glaucoma, the most common form of glaucoma. Overview Glaucoma is a multifactorial optic degenerative neuropathy characterized by the loss of cells in the retina, which are responsible for the transmission of signals to the brain’s visual center. This condition consists of a group of diseases that may or may not be associated with concomitant IOP. Major types of glaucoma include Primary Open-Angle Glaucoma (also called chronic glaucoma), Angle-Closure Glaucoma, and Congenital Glaucoma. All types are linked to the increased intraocular pressure. The fluid inside the eye, called aqueous humor, flows through a mesh-like channel. When this channel is blocked or if there is fluid overproduction, the buildup volume will raise the pressure inside the eye. Primary Open-Angle Glaucoma (POAG) is the most common type and usually related to aging. It is often bilateral and associated with progressively increased intraocular pressure. This phenomenon will cause vascular compression and subsequently ischemia of the optic nerve. Angle-Closure Glaucoma (ACG), on the other hand, appears with a sudden and sharp increase in intraocular pressure due to an obstruction of aqueous outflow in the eye. Primary ACG is due to anatomical variation of ocular structures, while Secondary ACG appears as a consequence of occlusion of the iridocorneal angle. It is important to notice that when acute, ACG is a medical emergency as it results in permanent vision loss if left untreated. Congenital glaucoma is mostly diagnosed within the first year of life and it is either Primary – sporadic or autosomal recessive – or Secondary – due to trauma, infection, or tumor. Prevalence & Risk factors It is estimated that 57.5 million people worldwide are affected by Primary Open-Angle Glaucoma (POAG) and it is expected to linearly increase in the next few years to reach 111.8 million by 2040. [1] The other types, angle-closure glaucoma and congenital glaucoma, are rather rare. POAG is the most common and, while the primary cause is unclear, risk factors include age >40, European or African descent, diabetes mellitus, a family history of POAG, myopia, and chronic steroid therapy. ACG is associated with anatomical variations predisposing to angle closure, advanced age, female sex, Asian ethnicity, eye trauma, rubeosis iridis (pathological neovascularization of the iris), and mydriasis, either drug-induced or due to stress response. CG can be sporadic, with autosomal recessive pattern; or secondary due to trauma, infection, or tumors. Genetics Genes play an important role in the development of glaucoma, and research has identified several variants associated with an increased risk of glaucoma. However, genetics alone does not determine whether someone will develop glaucoma. Genetic studies have uncovered specific genes associated with different forms of glaucoma. Mutations in genes MYOC and OPTN are linked to primary open-angle glaucoma (POAG), a common subtype. Increased intraocular pressure is also a significant contributor. High intraocular pressure puts a strain on the optic nerve and causes damage to it. Thus, the risk of each individual is determined by the interaction between genetic and other external factors. [6-8] Congenital glaucoma (CG) is primarily caused by factors that often result from mutations in genes involved in the development of the outflow angle of the eye, such as CYP1B1 or LTBP2 . It is usually transmitted by autosomal recessive inheritance (the child inherits one mutated copy of the gene from each parent). But the genetic basis in some familial cases remains unclear, and further research is needed. [8] Genetic testing allows us to detect whether you have the predisposition to develop this disease and therefore directs us to take steps toward prevention, monitoring, and possible treatment options. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms Glaucoma, depending on the type, has an array of symptoms ranging from asymptomatic picture to progressive bilateral visual field loss in POAG. When considering ACG, it is important to distinguish acute form from chronic, as the acute form is a medical emergency. In acute ACG, there is a sudden onset of symptoms, often showing as an inflamed, reddened, and severely painful eye. It is associated with headaches, vomiting, nausea, and blurred vision. If left untreated, it leads to rapid and permanent vision loss. Chronic ACG resembles POAG by being asymptomatic in early stages, followed by gradual vision loss. Congenital glaucoma exhibits specific signs and symptoms, these being buphthalmos (enlarged eyeball), corneal clouding, photophobia, and excessive tearing in newborns. Diagnosis Diagnosis is made during an ophthalmological examination by tonometry measuring the intraocular pressure, by fundoscopy to observe the optic nerve, and by gonioscopy to differentiate from angle-closure glaucoma. Visual field and acuity tests should be done as well to assess visual function. Genetic testing and newborn screening are important when diagnosing congenital glaucoma. Therapy Treatment is indicated in all patients, even if they are asymptomatic. The options include medical therapy, laser therapy, and open surgery. The most common drugs used are prostaglandins to decrease IOP. In case pharmacological treatment fails, laser therapy is the next best option. It is gaining importance nowadays as it helps to lower IOP and facilitates drainage of aqueous humor. Acute angle-closure glaucoma is an emergency and is treated with a combination of topical ophthalmic medications. Urgent surgery is considered when medical management fails. In chronic ACG, therapy starts with laser surgery of the iris before moving to pharmacotherapy. Prevention General screening for glaucoma is recommended to patients with diabetes mellitus, family history of glaucoma, or those of African descent aged 50 and over. Prognosis If left untreated, glaucoma leads to permanent blindness. Even with treatment, 15% of the affected patients become blind in at least one eye within 20 years[3]. Recommendations If you experience severe eye pain, reddening, and inflammation unilaterally, you should immediately visit an emergency room. Improve your health by exercising and controlling your diabetes.

### Lung Cancer

- URL: https://macromo.com/blog/cancer-risks/lung-cancer
- Published: 2024-01-25
- Category: cancer-risks
- Author: Hana Voberkova

Observed genes Polygenic score Influential genes: CHRNA5,CHRNA3,,CHRNB4 Polymorphisms in CHRNA5 gene have been associated with an increased risk of nicotine dependence, and therefore indirectly with lung cancer. CHRNA3 is in the same cluster as CHRNA5 . Variations in this gene have also been associated with nicotine dependence and an increased risk of lung cancer. Variants in CHRNB4 gene have been associated with nicotine dependence, and indirectly, with lung cancer risk due to the well-known connection between smoking and lung cancer. Summary Lung cancer is a type of cancer affecting the cells of the lungs. It occurs when normal cells get out of control and start multiplying uncontrollably. In 2020, lung cancer ranked second in the number of new cases and first in mortality worldwide. [1] Overview Lung cancer is a type of cancer affecting the cells of the lungs. The lungs are vital organs of the respiratory system. They are located inside the chest cavity and their main function is to exchange oxygen from the environment for carbon dioxide from our body. Cancer occurs when normal cells get out of control and start multiplying uncontrollably. In the past, the incidence was significantly higher in men, but in recent years there has been an increase in the incidence in women (the reason for this is not fully known). In 2020, lung cancer ranked second in the number of new cases and first in mortality worldwide (for both sexes). [1] At the time of diagnosis, the average age is circa 70 years. [2] Lung cancer can be divided into two major groups. Non-small cell lung cancer (NSCLC) accounts for up to 85%. Non-small cell lung cancer is a large group of tumors, including squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. If caught in the early stages, they are treated surgically. Chemotherapy and radiotherapy may also be used in advanced stages. [2] Small cell lung cancer (SCLC) , also known as oat cell cancer, accounts for approximately 15%. These tumors are specific in that they are often hormonally active. SCLC tends to spread faster than NSCLC and it is sensitive to both chemo/radiotherapy. [2] In addition to the main types of lung cancer, other malignant neoplasms can occur in the lungs. These include, for example, carcinoids, lymphomas, or sarcomas. Lastly, so-called “secondary tumors” can also occur in the lungs. These tumors spread to the lungs as metastases from distant sites, e.g. the breast, colon, liver, and bone. In absolute numbers this is even more common than primary lung tumors. The most common symptoms of lung cancer include chronic cough, coughing up blood, shortness of breath, chest pain, hoarseness, weight loss, and fatigue. It is important to realize that these symptoms can also be caused by other diseases, so it is crucial to contact your doctor if you experience any of these. Early detection and treatment can improve outcomes and quality of life. Prevalence & Risk factors Lung cancer remains one of the most common types of cancer. In 2020, lung cancer ranked second in the number of new cases and first in mortality worldwide. The estimated number of new cases in Europe in 2020 was 315 054 for men and 162 480 for women. [1] Risk factors for lung cancer include: Active smoking Second-hand smoking (passive inhalation of smoke that comes from other people's cigarettes or pipes) Family history of lung cancer Genetic susceptibility Poor diet Air pollution Workplace hazards - especially asbestos and other carcinogens Previous radiotherapy in the chest area Quitting smoking makes sense at any age, regardless of how long a person has smoked in the past because it significantly lowers the risk of developing lung cancer. By quitting you will also lower your risk of heart attack, stroke, and lung disease (such as COPD). [3] Genetics Familial lung cancer is a typical example of a disease in which the interaction between environment and genetics is crucial. Although certain molecular processes are involved in the disease development (e.g. chromosomal translocations, or gene overexpression), environmental and lifestyle factors need to be taken into consideration as well (e.g. smoking). The familial occurrence is influenced by several factors, including genetics, similar lifestyles, habits and diet, and environmental factors. Even though genetic factors play a role in disease development, only several genes have been associated with the disease. Furthermore, research based on twin studies has suggested that shared environment and lifestyle factors might be responsible for the onset of lung cancer and that the habit of smoking is the most probable reason. The Lung Cancer Consortium came to the conclusion that people with an affected first-degree relative have approximately 50% higher risk of lung cancer in comparison to people with negative family history. Interestingly, a study of Nordic twins found that heredity might be increasing the risk of lung cancer by about 18%, and the disease has one of the highest estimates (24%) associated with shared environmental influences as well. Scientific research has been focused on molecular processes that may be involved in lung cancer development. The most frequent change seen in patients with NSCLC is the gain of 2 or more chromosomes per cell. Also, mutations in the K-RAS oncogene (normal gene turned into oncogene which can transform a cell into a tumor cell) are observed in lung adenocarcinoma and its occurrence is estimated to be around 25–40%; these changes are predominantly found in Western populations. Other genetic changes include EGFR gene overexpression, which accounts for about 43–89% of NSCLC cases, B-RAF gene mutations accounting for 6–8% of NSCLC cases, and also HER2 mutations observed in 2–4% of NSCLC cases.[6,7] Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & symptoms Lung cancer is a type of cancer that often doesn't show any symptoms in the early stages. However, as the disease progresses, there are a few signs that may indicate its presence. These can include: Persistent coughing Chest pain Shortness of breath Wheezing Hoarseness Coughing up blood Unexplained weight loss, and fatigue It's important to note that these symptoms can also be caused by other health issues, so it's essential to consult a medical professional for a proper diagnosis. Early detection of lung cancer can greatly increase the chances of successful treatment and recovery, so it's vital to be aware of the potential signs and seek medical attention if any of them persist. Diagnosis Diagnosis of lung cancer typically involves a variety of tests and procedures. The first step is often a physical exam and a review of the patient's medical history, followed by imaging tests such as X-rays, CT scans, and MRI scans of the lungs and surrounding area. A biopsy, in which a small sample of tissue is removed and examined under a microscope, is usually required to confirm a lung cancer diagnosis. Blood tests may also be performed to check for certain biomarkers that can indicate the presence of lung cancer. Once a diagnosis has been confirmed, the stage and type of lung cancer should be determined, as it is essential for proper treatment. Therapy The therapy of lung cancer depends on several factors, including the stage and type of cancer and the patient's overall health. Treatment options typically include surgery, chemotherapy, radiation therapy, targeted therapy, and immunotherapy. Surgery may involve removing part or all of the affected lung or other nearby tissue. Chemotherapy involves the use of drugs to kill cancer cells throughout the body. Radiation therapy uses high-energy radiation to target and destroy cancer cells. Targeted therapy and immunotherapy are more recent treatment options that target specific molecules or immune system functions that are involved in the growth of cancer cells. In some cases, a combination of these therapies may be used. The treatment plan for lung cancer is highly individualized. Prevention There is no definitive way to prevent cancer. But there are measures that can reduce the risk of developing it. [2] Lifestyle plays an important role in the development of lung cancer, as cigarette smoking is the primary cause of lung cancer, and quitting smoking is the most effective way to prevent the disease. Second-hand smoke (the smoke that results from burning tobacco or the smoke breathed out by others), air pollution, and workplace hazards (e.g. asbestos) also greatly increase your risk. Even simple lifestyle changes such as a balanced diet, regular exercise, and avoiding exposure to harmful substances can make a big difference to your potential risk of developing the disease. There are also studies suggesting that a diet rich in vegetables and fruits, especially cruciferous vegetables (cabbage, radish, horseradish, broccoli, cauliflower, etc.) may have some protective effect against lung cancer. However, the results of these studies have not yet been conclusively confirmed. [4] Participation in regular health check-ups and screening programs will ensure the best prognosis. Different countries may offer different programs - for example, in the Czech Republic, there is a lung cancer screening program aimed at at-risk patients (heavy smokers) aged 55-75, selected by their GP. [5] Prognosis The prognosis for lung cancer varies greatly depending on the stage of cancer at the time of diagnosis, the type of lung cancer, and the patient's overall health. In general, the earlier the cancer is diagnosed and treated, the greater the chance of survival. Unfortunately, many cases of lung cancer are not detected until later stages, which can make treatment more difficult and reduce the chances of survival. In addition, some types of lung cancer are more aggressive and less responsive to treatment than others. Recommendations Avoid smoking and breathing in secondhand smoke Wear protective masks in polluted air environments Stick to a healthy and balanced diet including cruciferous vegetables and fruits Exercise more than three times per week Ask your doctor about possible screening programs and help to quit if you are a heavy smoker

### Esophageal Cancer

- URL: https://macromo.com/blog/cancer-risks/esophageal-cancer
- Published: 2024-01-24
- Category: cancer-risks
- Author: Hana Voberkova

Observed genes Polygenic score Influential genes: PLCE1 Alterations or mutations in the PLCE1 gene have been identified as risk factors for esophageal cancer. Summary Carcinoma of the esophagus, the hollow muscular tube connecting the throat and stomach, is a tumor of the digestive tract. It is more frequent in men than in women. The incidence of this disease varies depending on geographical location. The assumption is that the higher prevalence in some countries is related to tobacco use, alcohol, and unhealthy diet. Overview Carcinoma of the esophagus, the hollow muscular organ connecting the throat and stomach, is a tumor of the digestive tract. It occurs when cells in the esophageal wall get out of control and start multiplying uncontrollably. Cancer can arise in any part of the esophagus. There are two main types, squamous cell carcinoma (occurring more in the upper esophagus) and adenocarcinoma (more in the lower esophagus). Together they account for over 95 percent of esophageal malignant tumors. [1] Rarer types of esophageal cancer include melanoma, sarcoma, and lymphoma. Esophageal cancer is more frequent in men than in women. The incidence of this type of cancer varies according to geographical location, being most prevalent in Eastern Asia [3], where it has been linked to indoor air pollution among other factors. [11] It is also assumed that the higher prevalence in some countries is related to tobacco use, alcohol, and unhealthy diet. [2] Other risk factors include gastroesophageal reflux disease (GERD), being obese, drinking very hot liquids, or not eating enough fruits and/or vegetables, etc. The most common symptoms of esophageal cancer include difficulty swallowing, chest pain or discomfort, chronic cough, and unintended weight loss. [2] These symptoms, however, can be caused by numerous other conditions, so it's always important to check in with your healthcare provider for a diagnosis. Early detection and treatment can improve outcomes and quality of life. Prevalence & Risk factors Esophageal cancer is a relatively rare form of cancer, accounting for only about 1,3% of all cancers (except for non-melanoma skin cancer) diagnosed in Europe in 2020. [4] Risk factors for esophageal cancer include: Smoking Heavy alcohol consumption Gastroesophageal reflux disease Obesity (BMI > 25) Bile reflux Unhealthy diet Barrett’s esophagus (esophageal lining damaged by acid reflux) Regular drinking of hot liquids Radiation treatment to the chest or upper abdomen There are also non-modifiable risk factors such as age, sex, genetics, or family history. [2, 5] While early detection and treatment can improve outcomes, esophageal cancer is often not diagnosed until it has advanced to a late stage, which can make it more difficult to treat. Genetics It is important to address that there are many factors affecting disease development, such as ethnicity, geography, lifestyle, and habits. Barrett's esophagus (BE) is the main risk factor for esophageal adenocarcinoma (EAC) and even though clustering in families has been observed, most cases are due to somatic mutations. In the case of esophageal squamous cell carcinoma (ESCC), genetic changes in the TP53 gene have been observed in more than 83% of cases. Furthermore, epigenetics may also play a certain role. Several studies have described familial BE and familial EAC as part of the same trait because EAC appears to develop from BE and both conditions share the same risk factors. Familial cases of EAC seem to have an earlier onset and are less associated with other known risk factors.[8,9] Modern techniques including whole-genome sequencing, whole-exome sequencing, and comparative genomic array hybridization found that in more than 83% of cases of esophageal squamous cell carcinoma (ESCC), the TP53 gene was altered by mutations. Genetic alterations in cell cycle control genes such as CDKN2A, CHEK1, and CHEK2 have been identified in 2–10% of cases, and overexpression of the EGFR gene, which is associated with worse prognosis, has been observed as well. Epigenetic mechanisms such as DNA methylation or histone modification are also important to mention because they can be connected to the development of ESCC and other tumors. Researchers detected hypermethylation in the APC, RB1, and CDKN2A genes in several cases of ESCC.[10] Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & symptoms The most common symptoms of esophageal cancer include difficulty swallowing, which may feel like food is getting stuck in the throat or chest, chest pain or discomfort and chronic cough, and unintended weight loss. Other less common symptoms may include hoarseness or voice changes, regurgitation of food or acid, and heartburn. If it is not diagnosed in the early stages, it can cause many complications, such as: Esophageal obstruction. The tumor can grow into the lumen of the esophagus, causing obstruction and making it difficult for food and fluids to pass through. Symptoms may include a lack of appetite and weight loss. Advanced esophageal cancer can cause pain , especially when eating. Esophageal cancer can cause bleeding . This can either be mild and chronic causing a lack of red blood cells ( anemia ) or sudden and severe. Black tarry stools (melena) might be a consequence of insidious blood loss, whereas the vomiting of bright red blood is associated with sudden and severe bleeding. This type of cancer can also spread to other organs , especially the liver, lungs, bones, and brain. This stage is most often manifested by weight loss, shortness of breath, bone pain, and loose fluid in the abdominal cavity. Diagnosis If esophageal cancer is suspected, the patient should be referred to a specialist (gastroenterologist) who will perform an endoscopic examination to visualize the esophagus and, if necessary, take a piece of the suspicious tissue ( biopsy ). If the presence of esophageal cancer is confirmed, further tests follow to rule out spread to other organs. These may include endoscopic ultrasound of the esophagus, bronchoscopy, CT scan, and PET/CT. Early diagnosis is essential to improve prognosis and quality of life. Therapy Patients with esophageal cancer are treated by a multidisciplinary team. The treatment strategy varies according to the type of tumor cells, the stage of cancer, the patient's condition, and comorbidities. Surgery Surgical removal of an esophageal tumor can be used alone or in combination with other methods that may precede or follow the procedure. The severity of the procedure depends on the extent of the damaged tissue. In very early, localized forms of cancer, this might provide a “definite cure”. [2] Chemotherapy Chemotherapy is a cancer treatment that uses drugs to kill cancer cells. It may be used before or after surgery and may be combined with radiotherapy. For patients with advanced findings (for example, lesions in distant organs), chemotherapy may be used alone as part of symptomatic care. [2] Radiotherapy Radiation therapy is a cancer treatment that uses radiation to kill cancer cells and shrink tumors. In the treatment of esophageal cancer, it is usually combined with chemotherapy and used before surgery. Like chemotherapy, radiotherapy can also be used as part of symptomatic care. [2] Other methods include targeted therapy and immunotherapy, more recent treatment options that target specific molecules or immune system functions that are involved in the growth of cancer cells. Prevention To reduce your risk of developing esophageal cancer, take the following steps: It is strongly recommended to stop smoking. If you are not an active smoker, it is also important to avoid passive smoking. Reduce your alcohol consumption to the bare minimum. Watch your eating habits. Include more fruit and vegetables in your diet and avoid drinks and foods that are too hot. Maintain a healthy weight. If you are overweight or obese, try to lose weight. To prevent gastroesophageal reflux, do not eat shortly before bedtime (wait at least 3 hours before you lay down after the last meal), avoid physical work in a prone position after eating, and limit irritating foods (fatty, fried) and drinks (coffee, alcohol). Prognosis In recent decades, the survival of patients with esophageal cancer has improved. However, the stage at which the disease is diagnosed is extremely important. Another decisive prognostic factor is the rate of weight loss. The overall 5-year survival rate for oesophageal cancer is estimated to be around 20%. The earlier the cancer is detected the better the prognosis. Yet, esophageal cancer is a significant cause of all cancer deaths worldwide. [7] Recommendations It is strongly recommended to stop smoking, if you are an active smoker. Keep your alcohol consumption to a minimum. If you suffer from heartburn, consult your GP about your condition. Watch your eating habits. Include more fruit and vegetables in your diet and avoid frequent consumption of hot drinks and foods. Maintain a healthy weight. If you are overweight or obese, try to lose weight.

### Pancreatitis

- URL: https://macromo.com/blog/diseases-risks/pancreatitis
- Published: 2023-12-23
- Category: diseases-risks
- Author: Anna Fiserova

Observed genes Polygenic score Influential genes: CTRC Research has demonstrated that variations in the CTRC gene can increase the susceptibility to chronic pancreatitis within European and Asian populations. Overview Pancreatitis is a health condition characterized by an inflammation of the pancreas that can potentially lead to the destruction of its tissue and ultimately result in disorders of pancreatic functions. The Pancreas is an abdominal organ important in converting nutrients from the food we eat into energy. It has two main functions: Endocrine: releasing hormones maintaining healthy blood sugar levels directly into the bloodstream (i.e. insulin, glucagon). To understand more about the pancreas and its function as an endocrine gland, visit our article about the endocrine system. Exocrine: producing digestive enzymes that break down nutrients. Those enzymes are produced in the form of pancreatic juice that gets secreted via a tube into the small intestine. Figure 1: Pancreas location Two main clinical units are differentiated - acute and chronic pancreatitis, therefore the article will be furthermore divided. Acute pancreatitis is a state that can develop suddenly and causes great pain to the patient, often leading to hospitalization. It has the potential to cause irreversible damage to the tissue, but it mostly resolves within days with the help of non-invasive therapeutic measures (diet, rest, fluid substitution). Chronic pancreatitis develops slowly over years and causes irreversible damage to the tissue. Epidemiology & Risk factors Genetics Hereditary chronic pancreatitis (HCP) is a rare form of pancreatitis influenced mainly by genetic contributors, however, there are even more forms of the disease. All types of pancreatitis share similar genetic and etiological risk factors (e.g. gallstones, smoking, excessive alcohol consumption, or hypertriglyceridemia). [5] Pancreas disorders are of complex nature and have a strong genetic background. Contemporary research shows that no single gene leads to pancreatitis by itself, most cases of pancreatitis seem to be caused by several variants in the corresponding gene, and of course, the effect of environmental stressors needs to be taken into consideration. [6] HCP, a form of pancreatitis strictly influenced by genetics, was first identified in 1952. It is a rare disease caused by mutations in the PRSS1 gene and is diagnosed mainly among Europeans. Even in the PRSS1 gene, which is the main risk factor in this case, mutations can lead to different clinical consequences. [7] There were not many significant findings in discovering new genes that could contribute to the development of diseases over the past 10 years. However, confirmatory studies and new variations have been published regarding the three main genes in pancreatitis: PRSS1, CFTR, and SPINK1 . Genes CTRC and CASR are also involved in pancreatitis development but to a much lesser extent compared to the three main ones. The discovery of genetic epistasis has also been an important and very interesting approach in the research of complex genetic diseases and traits. Because it refers to the ability of one gene to modify the effect of another gene. [6] Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms Figure 2: Cullen's sign and Grey Turner's sign Diagnosis The diagnostic process begins with a thorough anamnesis focused on the patient’s symptoms and their previous similar experiences. Medical professionals will also ask about any other health conditions that might lead to the development of pancreatitis and a family history of pancreatitis and gallstones. To confirm the diagnosis, blood tests are a key method. They focus on the levels of digestive enzymes (amylase, lipase), high glucose, high fats, and signs of infection. To confirm the diagnosis, imaging methods are indicated, from ultrasound to more complicated methods such as CT scan or MRI. Therapy Prevention Since many of the risk factors are connected with the patient's lifestyle, risks for the development of the disease can be significantly reduced. Decrease alcohol consumption - with limiting alcohol consumption, the pancreas is protected from the toxic effects of alcohol. Stop smoking and avoid combining smoking with alcohol. Set a healthy lifestyle routine including a healthy diet and exercise. It can prevent risk factors such as obesity and diabetes and lower patients' chances of getting gallstones. Prognosis Recommendations Don't hesitate to search for help if you drink around 4-5 drinks or more per day. Watch your TAG levels. TAG > 11,3 mmol/l is an important risk factor for pancreatitis. Do not combine alcohol with smoking. Avoid foods full of fats. Exercise regularly at least 3 times a week for 30 minutes and more. Walking is one of the best and easiest exercise options. If you experience severe pain in your upper abdominal area, don't hesitate to search for help.

### Hereditary Fructose Intolerance

- URL: https://macromo.com/blog/family-planning/hereditary-fructose-intolerance
- Published: 2023-12-12
- Category: family-planning
- Author: Anna Fiserova

Summary Hereditary fructose intolerance (HFI) is a genetic disorder characterized by the body's inability to break down fructose, a sugar found in many fruits, vegetables, and honey. Overview Hereditary fructose intolerance (HFI) is a rare genetic disorder where the absence of an enzyme leads to fructose buildup, causing issues like hypoglycemia, digestive problems, and potential organ damage. Diagnosis involves symptoms, dietary assessment, lab, and genetic tests. Treatment requires a strict fructose-free diet and consuming glucose during low blood sugar episodes. Prevention isn't possible, but early diagnosis and adherence to a fructose-free diet can prevent complications in most cases. Prevalence & Risk factors Hereditary fructose intolerance (HFI) is a rare genetic disorder, occurring due to the absence of the enzyme aldolase B. Estimates suggest its prevalence to range from 1 in 20,000 to 1 in 60,000 births. [1] The condition is inherited in an autosomal recessive manner, meaning both parents must carry the abnormal gene for a child to inherit the disorder. Consanguineous relationships elevate the risk of inheriting HFI due to a higher chance of both parents carrying the same abnormal gene. Genetics HFI stems from mutations within the ALDOB gene, encoding the Aldolase B enzyme. This enzyme is a key player in the hepatic breakdown of fructose. The diversity of mutations within ALDOB contributes to a spectrum of enzymatic deficiencies, influencing the ability to metabolize fructose effectively. [2] Affected individuals inherit two mutated copies of the ALDOB gene, one from each parent. Carriers, possessing one normal and one mutated copy, often remain asymptomatic but can pass the mutated gene to their offspring. [1,5] Genetic testing serves as a cornerstone for diagnosing HFI, enabling the identification of mutations in the ALDOB gene. Various DNA sequencing techniques allow for the detection of specific mutations associated with HFI. [5,6] Pathophysiology The absence of aldolase B, an enzyme crucial for breaking down fructose-1-phosphate into essential compounds, leads to a toxic accumulation of fructose-1-phosphate primarily in the liver. This accumulation disrupts the normal glycogen breakdown into glucose and depletes phosphate stores, hindering critical metabolic processes. As a consequence, metabolic abnormalities such as hyperuricemia, lactic acidosis, and hypermagnesemia are commonly observed in individuals with HFI. If left untreated, the disorder progresses and may result in hepatic and renal dysfunction, leading to severe complications. [1] Signs & Symptoms Symptoms often manifest after the introduction of fructose-containing foods, especially in infants, underscoring the early onset of HFI. Symptoms may include: [2-4] Digestive Problems. Symptoms often appear after the introduction of fruits, juices, or other foods containing fructose or sucrose. Digestive issues may include nausea, vomiting, abdominal pain, and bloating. Hypoglycemia (Low Blood Sugar). This can result in weakness, sweating, shakiness, irritability, and fatigue. Fructose accumulation can cause liver and kidney damage in severe cases. Symptoms might include jaundice (yellowing of the skin and eyes), enlarged liver, and potentially, kidney failure. Poor feeding, growth retardation, and inability to thrive. Seizures. Diagnosis Diagnosing hereditary fructose intolerance (HFI) involves: [2,3] Clinical symptoms. Dietary assessment. Some individuals report symptoms after consuming fructose-rich foods, aiding diagnosis. Laboratory tests. Blood or urine tests can measure fructose-related substances. Liver biopsy. A liver biopsy can be required to measure the aldolase B activity. Genetic testing. Identifying mutations in the ALDOB gene confirms HFI. A comprehensive approach combining these diagnostic methods ensures a thorough evaluation. Therapy The primary treatment for HFI is strict adherence to a fructose-free diet. Complete avoidance of fructose, sucrose, and sorbitol-containing foods is crucial to prevent further complications. This includes fruits, certain vegetables, honey, table sugar, and products with high-fructose corn syrup. During acute episodes of hypoglycemia, immediate glucose administration helps stabilize blood sugar levels and alleviate symptoms. [3,4] Prevention Hereditary fructose intolerance is a genetic condition and therefore cannot be prevented. Genetic counseling is recommended for couples with a family history of HFI to understand the risk of passing on the defective gene to their children. Early diagnosis through genetic testing and prompt initiation of a fructose-free diet is important in preventing irreversible damage. Prognosis With proper dietary management initiated early in life, most individuals with HFI can lead normal lives. However, severe cases with delayed diagnosis or poor compliance with dietary restrictions may lead to chronic complications involving growth retardation, as well as liver and kidney problems. [1,3] Additionally, individuals with HFI may face challenges related to mental health and quality of life, given the constraints imposed by dietary restrictions and the need for constant management. Regular check-ups and monitoring are essential to address both physical and mental well-being. Recommendations Strictly follow a fructose-free diet, avoiding fructose, sucrose, and sorbitol-containing foods like fruits, honey, and high-fructose corn syrup products. Recognize symptoms like hypoglycemia or digestive issues after consuming fructose-rich foods and seek immediate glucose for hypoglycemic episodes. Regularly consult healthcare providers for check-ups and monitoring to catch complications early. Consider genetic counseling for family planning, especially if there's a family history of HFI.

### Beta Thalassemia

- URL: https://macromo.com/blog/family-planning/beta-thalassemia
- Published: 2023-12-12
- Category: family-planning
- Author: Anna Fiserova

Summary Beta thalassemia is a genetic blood disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. It is caused by HBB gene mutations, which provide instructions for making beta-globin, one of the two globin chains that make up hemoglobin. Overview Beta thalassemia is a genetic blood disorder caused by mutations in the HBB gene that affect the production of hemoglobin. It is most commonly found in people of Mediterranean origin, especially those from Cyprus (highest carrier frequency), Italy, Greece, Middle East, and Southeast Asia. It has a global prevalence of around 1.5%, with approximately 60,000 symptomatic individuals born annually. Beta thalassemia has three main forms: minor, intermediate, and major. Symptoms of beta thalassemia include fatigue, dizziness, pale skin, headaches, shortness of breath, jaundice, dark urine, pale stool, splenomegaly (enlarged spleen), and bone deformities. Diagnosis is made through blood tests and genetic testing, and treatment involves blood transfusions, chelation therapy, and gene therapy. Prevalence & Risk factors About 1.5% of the global population (80 to 90 million people) is estimated to be beta-thalassemia carriers. The prevalence of beta thalassemia varies depending on the population studied. The highest incidences of beta-thalassemia carriers are reported in Cyprus (14%) and Sardinia (12%). Beta thalassemia is relatively rare in other regions, such as the United States. It is often seen in places where malaria is common because it has been reported to have a protective effect against malaria caused by P. falciparum . [1] The risk factors that increase the likelihood of developing beta thalassemia include: Family history : Beta thalassemia is an inherited disorder, so having a family history of the condition increases the risk of developing it. Ethnicity : Beta thalassemia is more common in people of Mediterranean, African, Middle Eastern, and Southeast Asian descent. Genetics Beta thalassemia is an autosomal recessive genetic disorder. It results from mutations in the HBB gene, which encodes the beta globin protein. Individuals with two mutated alleles (homozygous) display severe symptoms, while carriers (heterozygous) often exhibit no or mild effects. The severity of beta thalassemia varies depending on the specific mutations involved and their impact on beta globin production. Molecular diagnostics and carrier screening play crucial roles in identifying carriers and at-risk couples. [2] Autosomal recessive disorders arise when an individual acquires a defective gene from both parents. If someone inherits one functional gene and one affected gene associated with the disorder, they become carriers who usually have no symptoms. When both parents are carriers, there is a 25% chance of both transmitting the faulty gene and having an affected offspring. The likelihood of having a child who, like the parents, is a carrier stands at 50%. There is a 25% possibility for a child to inherit normal genes from both parents. This applies equally to men and women. [3] Pathophysiology Red Blood Cells are the component of blood responsible for carrying oxygen. Hemoglobin is the protein inside these cells, allowing them to bind and carry oxygen. Hemoglobin has an organic protein component - the globin; and an inorganic part, an arrangement of 4 iron atoms that allows for the temporary binding of oxygen. [1] A mutation in hemoglobin results in a decreased capacity of red blood cells to carry oxygen, leading to disease development. Individuals with one affected allele are said to be carriers, and the disease manifests as beta thalassemia minor (the least severe form of Beta thalassemia). Those with both alleles mutated can manifest as beta thalassemia major or intermedia. Signs & Symptoms The signs and symptoms of beta thalassemia greatly vary in severity. It depends on the specific mutations in the HBB gene. [3] We can distinguish between 3 main forms of beta thalassemia: Beta thalassemia minor , also known as carrier state. One of the HBB genes has a mutation, but the other gene is normal. This results in a mild reduction in the production of beta-globin. It can be asymptomatic or can lead to mild anemia. Individuals with this type have a 50% chance of passing the mutation to their offspring. Beta thalassemia intermedia. There are mutations in both HBB genes, but beta-globin production is not completely absent. This results in moderate to severe anemia that may require occasional blood transfusions and other treatments. Beta thalassemia major , also known as Cooley's anemia, has mutations in both HBB genes, resulting in little or no production of beta-globin. This leads to severe, life-threatening anemia that requires lifelong blood transfusions and other treatments. Without treatment, beta thalassemia major can lead to organ damage and early death. Defective beta globin production damages your red blood cells and their subsequent removal from circulation. If you don't have enough red blood cells to carry oxygen to your body's tissues, you will develop anemia. It can present with symptoms like fatigue, dizziness, pale skin, headaches, shortness of breath, jaundice (yellow discoloration of skin, mucous membranes, and sclera), dark urine, and pale stool. Furthermore, individuals suffering from beta thalassemia can have an enlarged spleen (splenomegaly) because too many blood cells are destroyed there. The abnormal production and destruction of red blood cells can cause bone marrow expansion and overstimulation, leading to bone deformities. Diagnosis Beta-thalassemia is usually diagnosed through a combination of blood tests and genetic testing. Blood tests can measure hemoglobin levels and other components in the blood and help determine whether a person has anemia. Genetic testing can identify mutations in the HBB gene that cause beta-thalassemia. Prenatal testing is also available for families with a history of beta-thalassemia. [4,5] Therapy The treatment of beta thalassemia depends on the type and severity of the condition. [3,5] Thalassemia major requires regular blood transfusions to replace the defective red blood cells. However, repeated blood transfusions can cause iron buildup in the body, leading to organ damage. To prevent this, people with thalassemia major often require chelation therapy, which involves taking medication to remove excess iron from the body. Sometimes, a bone marrow or cord blood transplant may be a possible cure for thalassemia major. Thalassemia intermedia may not require regular blood transfusions, but people with this form of the disease may still need occasional transfusions to manage their symptoms. Iron chelation therapy may also be necessary in some cases. Prevention Since beta thalassemia is an inherited disorder, there is no way to prevent it from occurring in families with a history of the condition. However, genetic counseling can help couples with a family history of beta thalassemia understand their risk of having a child with the disease and explore prenatal diagnosis and treatment options. Prognosis Beta thalassemia is a genetic blood disorder that can cause serious health problems if left untreated. However, with proper medical care and support, many people with beta-thalassemia can lead full and productive lives.

### Phenylketonuria

- URL: https://macromo.com/blog/family-planning/phenylketonuria
- Published: 2023-12-12
- Category: family-planning
- Author: Yevhenia Rakhmankina

Summary Phenylketonuria (PKU) is a rare genetic disorder caused by the deficiency of the PAH enzyme, leading to the accumulation of phenylalanine in the body. Overview Symptoms of phenylketonuria can vary in severity and include musty odor, neurological problems, skin abnormalities, small head size, hyperactivity, intellectual disability, and behavioral issues. PKU is typically diagnosed through newborn screening, and the primary treatment involves a strict low-phenylalanine diet, phenylalanine-free nutritional supplements, regular monitoring, and, in some cases, medications or enzyme therapy. Careful management is crucial for pregnant women with PKU to prevent congenital disabilities. Early diagnosis and lifelong management are key to leading a healthy life with PKU. Prevalence & Risk factors PKU is considered a rare disorder. The prevalence of PKU varies worldwide. In Europe, the mean prevalence is approximately 1:10,000 newborns, with a higher rate in some countries, such as Ireland and Turkey, and a very low rate in Finland. [1] The risk factors for PKU are primarily genetic. To develop this autosomal recessive disorder, an individual must inherit two mutated copies of the PAH gene, one from each parent. When both parents are carriers of the mutated gene, there is a 25% chance that their child will be affected by PKU. Genetics As mentioned above, PKU is a disorder that affects how the body processes an amino acid called phenylalanine. It is primarily caused by mutations in the PAH gene, which provides instructions for producing an enzyme called phenylalanine hydroxylase. This enzyme is crucial for converting phenylalanine into an amino acid called tyrosine. The mutations disrupt this conversion, causing phenylalanine to accumulate in the blood and brain, leading to neurotoxicity. More than 1000 variants of PAH have been reported worldwide, indicating that PKU is heterogeneous in nature. In a subset of individuals with PKU, there may also be a deficiency in BH4, which is a cofactor necessary for the proper functioning of phenylalanine hydroxylase. [7] According to research, most of the cases are compound heterozygous. The affected individual has mutations in both copies (alleles) of the PAH gene, but these mutations are different from each other. [8,9] Ongoing research focuses on gene therapies, enzyme replacement, and understanding environmental factors that can influence PKU severity and management. Pathophysiology The pathophysiology revolves around the disruption of phenylalanine metabolism. In individuals with PKU, the PAH enzyme is either deficient or entirely absent, leading to the accumulation of phenylalanine. High levels of phenylalanine in the blood have toxic effects on the brain and nervous system. It can lead to the degeneration of nerve cells, interfere with the formation of myelin (the protective sheath around nerve fibers), and disrupt the balance of neurotransmitters like dopamine and serotonin, contributing to neurological symptoms and intellectual disabilities. [2] Signs & Symptoms The symptoms can vary in severity and may be absent in some individuals, especially if they receive early diagnosis and treatment. The severity of symptoms largely depends on the levels of phenylalanine in the body and can range from mild to severe. Common signs and symptoms include: [3-5] Musty Odor. Individuals with untreated PKU may have a musty or "mousy" odor in their breath, skin, or urine. This distinct odor is caused by the accumulation of phenylalanine in the body. Neurological Problems. PKU can lead to various neurological issues, including seizures, abnormal muscle movements, tight muscles, increased reflexes, involuntary movements, or tremors. These symptoms are more common in untreated individuals. Skin Abnormalities. Skin rashes, such as eczema, can occur in affected individuals, particularly if the condition is not managed with dietary restrictions. Lighter Skin, Hair, and Eye Color. Individuals with PKU may have lighter skin, hair, and eye color compared to their family members. This occurs because the excessive phenylalanine hinders the production of melanin, the pigment responsible for skin and hair color. Small Head Size (Microcephaly). Some individuals may have an unusually small head size, known as microcephaly, due to the impact of elevated phenylalanine levels on brain development. Hyperactivity. Hyperactivity and restlessness can be observed in individuals with untreated PKU, particularly children. Intellectual Disability. Without early intervention and treatment, PKU can lead to intellectual disability. The accumulation of phenylalanine in the brain can impair cognitive development, resulting in learning difficulties and developmental delays. Delayed Development. Affected children may experience delays in reaching developmental milestones, including speech and motor skills. Behavioral and Emotional Problems. The disease can contribute to behavioral and emotional challenges, such as mood swings, anxiety, and difficulties with social interactions. Diagnosis PKU is typically diagnosed through newborn screening, a routine blood test conducted shortly after birth. Elevated phenylalanine levels in the blood sample can indicate the presence of the disease. Confirmatory tests, such as additional blood or urine tests and genetic testing, may be necessary to determine the type and severity. [6] Therapy The primary goal of treatment is to maintain safe levels of phenylalanine (Phe) in the blood to prevent intellectual disability and other related health problems. Treatment strategies typically include: [4, 6] Low-Phenylalanine Diet. The cornerstone of PKU management is a strict low-phenylalanine diet. Individuals must avoid foods high in protein, as they contain elevated phenylalanine levels. Avoid meat, dairy products, nuts, fish, and certain grains. Instead, consume foods low in protein, such as fruits and vegetables. Phenylalanine-Free Nutritional Supplements. Since a low-phenylalanine diet can be challenging to meet all nutritional needs, individuals often require phenylalanine-free dietary supplements. These supplements provide essential amino acids and nutrients, ensuring proper growth and overall health. Regular Monitoring. Regular monitoring of blood phenylalanine levels is essential to adjust the diet and treatment plan as needed. Infants, children, and adults with PKU undergo frequent blood tests to assess phenylalanine levels, especially during rapid growth or pregnancy. Medication (Sapropterin - Kuvan). The FDA-approved medication, sapropterin (brand name Kuvan), may be prescribed for some individuals with PKU. It works by aiding the PAH enzyme in processing phenylalanine. Not everyone with PKU responds to this medication, and its effectiveness varies among individuals. Enzyme Therapy (Pegvaliase - Palynziq). Pegvaliase is another FDA-approved treatment for adults with PKU, specifically when current therapies are inadequate. It involves injectable enzyme therapy to help break down phenylalanine. Due to potential side effects, it is administered under the supervision of certified healthcare providers. Maternal PKU Management. Pregnant women with PKU must diligently manage their phenylalanine levels to protect the developing fetus from potential harm. High phenylalanine levels during pregnancy can lead to birth defects and intellectual disabilities in the baby. Close monitoring and strict adherence to the low-phenylalanine diet are essential. PKU management is a lifelong commitment. Even as individuals with PKU transition into adulthood, it is crucial to continue with dietary restrictions and monitoring to maintain cognitive function and overall health. Prevention While PKU cannot be prevented, early diagnosis through newborn screening is vital for the timely initiation of treatment and prevention of intellectual disabilities and other associated health problems. Women with PKU planning to become pregnant should maintain their PKU diet before conception to reduce the risk of complications in their offspring. Prognosis With early and consistent treatment, most individuals with PKU can lead healthy lives and avoid severe intellectual disabilities. Regularly monitoring phenylalanine levels is crucial to ensure treatment effectiveness and make necessary dietary and therapeutic regimen adjustments.

### Vitamin K

- URL: https://macromo.com/blog/nutrition-and-diet/vitamin-k
- Published: 2023-12-12
- Category: nutrition-and-diet
- Author: Yevhenia Rakhmankina

Observed genes Polygenic score Influential genes: ZPR1,CYP4F2 The activity of the CYP4F2 gene is crucial for the transformation of vitamin K into its active form, which plays a vital role in the synthesis of clotting factors within the liver. ZPR1 gene encodes a protein that is believed to play a critical role in cell signaling and is important for the growth and proliferation of cells. Summary Vitamin K is a fat-soluble vitamin required for the production of certain proteins involved in blood clotting and bone metabolism. Vitamin K deficiency can lead to blood clotting issues, like bruising and nosebleeds, weak bones, and an increased risk of cardiovascular disease. Overview Vitamin K is a vital fat-soluble nutrient (together with vitamin A, D and E), essential for blood clotting and bone health. It plays a pivotal role in producing proteins necessary for preventing excessive bleeding from wounds as well as maintaining strong bones by producing osteocalcin. There are various forms of vitamin K, such as K1 found in leafy greens and K2 from gut bacteria and certain foods. Vitamin K deficiency can lead to blood clotting issues, like bruising and nosebleeds, weak bones, and an increased risk of cardiovascular disease. While vitamin K deficiency is rare in healthy adults, it can occur with some severe underlying conditions, gastrointestinal problems or prolonged antibiotic use. Newborns are susceptible to vitamin K deficiency, which can lead to bleeding, so they receive a vitamin K injection after birth. Excessive vitamin K intake typically doesn't cause problems in the general population due to rapid breakdown and excretion. What is Vitamin K and its function? Vitamin K is a fat-soluble vitamin responsible for several functions in our body. Vitamin K is required for the production of certain proteins involved in blood clotting and bone metabolism. Blood clotting is a process that prevents excessive bleeding from wounds. 4 out of 13 proteins involved in this process are vitamin K dependent. In bones, vitamin K is required to produce osteocalcin, a protein needed to prevent bone weakness. Some studies also researched vitamin K's role in heart health. It takes part in making proteins that help prevent calcification and hardening of arteries. [1] Types and sources Vitamin K refers to a group of compounds with the same chemical structure. These compounds are phylloquinone (vitamin K1) and menoquinones (vitamin K2). They are naturally found in a variety of foods and are also available as supplements. Phylloquinone can be obtained from green leafy vegetables, like spinach, kale, or Brussels sprouts, and it is the predominant dietary form. Our gut bacteria is the primary source of menaquinones, but it is also present in smaller amounts in some animal-based and fermented foods, such as meat, cheese, eggs, and fermented soybeans. [2,3] Requirements Recommended Vitamin K intake varies based on age and gender. Most individuals can meet the required amount by maintaining a well-balanced diet. The recommended daily intake is listed in the table below [1] : Vitamin K deficiency A deficiency in Vitamin K can give rise to some adverse health effects. When your Vitamin K levels are low, it can compromise your blood clotting ability, potentially resulting in the following symptoms: Bruising (bleeding into the skin) Epistaxis (nosebleeds) Gastrointestinal bleeding, which may manifest as vomiting with blood or blood in the stool Hematuria (presence of blood in urine) Furthermore, vitamin K deficiency can also result in decreased bone mineralization and the development of osteoporosis, a condition characterized by weak bone, increasing the risk of fractures. [2,5] A new study has also shown that vitamin K insufficiency is significantly higher in people with cardiovascular disease and is also strongly linked to an increased risk of cardiovascular mortality. [4] Vitamin K deficiency in a healthy adult is rare and typically manifests in the presence of underlying severe medical conditions, such as cystic fibrosis, bile duct obstruction, or celiac disease. Additionally, prolonged antibiotic therapy can disrupt the balance of beneficial bacteria responsible for synthesizing vitamin K, thereby reducing its levels in the body. On the other hand, newborns are naturally prone to vitamin K deficiency. Their intestinal flora has not developed yet, so they lack vitamin K-producing bacteria. Furthermore, breast milk contains really low amounts of this nutrient. During the first few weeks of life, vitamin K deficiency can cause vitamin K deficiency bleeding (VKDB), a condition associated with bleeding in the umbilicus, gastrointestinal tract, skin, nose, or other sites. For this reason, all newborns are recommended to get a single intramuscular injection of vitamin K. [5] Vitamin K excess Vitamin K is broken down very quickly and excreted in urine or stool. Because of that, there have been no reported adverse effects from vitamin K excess in any amount from food or supplements in the general population. However, people taking warfarin must be careful about their vitamin K levels, maintaining a consistent intake. Warfarin is an anticoagulant (a blood-thinning medication) that works by antagonizing the activity of vitamin K. This leads to the depletion of vitamin K-dependent coagulation factors, thus preventing thrombosis. Sudden changes in vitamin K intake can increase or decrease the activity of the drug, leading to adverse health effects like bleeding or thrombosis. [2] Genetics In general, there are two well-known genes associated with the vitamin K molecular processes. The first gene, VKORC1, plays a key role in activating vitamin K. The second gene is GGCX , which is involved in the modification of vitamin K-dependent proteins that are essential for blood clotting. Genetic changes in these genes may lead to several health problems. The VKORC1 gene has a significant role in the vitamin K activation. Vitamin K is needed for coagulation, energy metabolism, or arterial calcification prevention. There are multiple steps leading to its activation, such as conversion to vitamin K-epoxide followed by its reduction by VKORC1 enzyme. A number of polymorphisms and mutations connected to VKORC1 have been reported. [6] The GGCX gene is another participant in the vitamin K cycle, it produces the enzyme Gamma-glutamyl carboxylase, which modifies vitamin K-dependent proteins. Changes affecting this gene can lead to vitamin K-dependent coagulation factor deficiency type 1 (VKCFD1). [7] Warfarin is known to interfere with the conversion step by inhibiting the reduction of VKORC1 , and also negatively affects GGCX activity. Several studies addressing this issue have reported an association between identified single nucleotide polymorphisms (SNPs) and warfarin doses. Such studies and a more detailed understanding of pharmacogenomics are important for healthcare providers as they can guide drug dosing according to the respective needs of each patient. [8,9] Recommendations Ensure a well-balanced diet that includes foods rich in vitamin K. This includes green leafy vegetables like spinach and kale for vitamin K1 and animal-based or fermented foods for vitamin K2. If you have a newborn, ensure they receive the recommended vitamin K injection shortly after birth to prevent vitamin K deficiency bleeding (VKDB). If you are taking warfarin, be vigilant about your vitamin K levels. Maintain a consistent intake and consult your healthcare provider to manage your medication effectively. Heart Health: Given the potential role of vitamin K in heart health, consider incorporating vitamin K-rich foods into your diet as part of a broader heart-healthy lifestyle. To support strong bones and reduce the risk of osteoporosis, ensure you're meeting your vitamin K requirements, especially as you age. If you have underlying medical conditions affecting vitamin K absorption or metabolism, such as cystic fibrosis or celiac disease, discuss your nutritional needs with a healthcare provider and schedule regular check-ups to monitor your vitamin K levels. If you struggle to meet your vitamin K requirements through diet alone, consider vitamin K supplements under the guidance of a healthcare professional.

### Hypertriglyceridemia

- URL: https://macromo.com/blog/diseases-risks/hypertriglyceridemia
- Published: 2023-12-12
- Category: diseases-risks
- Author: Anna Fiserova

Overview Hypertriglyceridemia (HTG) is a health condition characterized by abnormally increased triglyceride levels in the blood. Triglycerides, also known as triacylglycerols (TAG), are the main constituents of body fat in humans. Ingested fats are divided into smaller parts within the intestines and afterward absorbed in the form of free fatty acids. Those acids bind to glycerol and form triglycerides that make part of every lipoprotein in smaller or bigger amounts. A lipoprotein is a particle formed mainly from triglycerides and cholesterol, responsible for storing, transporting, and utilizing fats in the body. Usually, these particles get destroyed quickly and don't represent any risk, but once the concentration of triglycerides in the blood increases, the situation changes dramatically. High triglyceride levels are associated with atherosclerosis and damage of the vessels; they are also connected to a higher risk of developing ischemic heart disease, non-alcoholic fatty liver disease, or pancreatitis. There are many clinical conditions hidden in the term hypertriglyceridemia. HTG itself is only one of three main groups forming dyslipidemias (= disorders of lipid metabolism). The whole classification is very complicated and comprehensive, but let us quickly mention it for the integrity of the article. According to the part of lipoprotein that is impaired, it's possible to differentiate: Hypercholesterolemie - increased levels of cholesterol Combined hyperlipoproteinemia - increased levels of both cholesterol and triglycerides Hypertriglyceridemia - increased levels of triglycerides All of the mentioned groups include both primary (genetically determined disease) and secondary (developing based on other health conditions or lifestyle) forms of diseases. The desired level of TAG in the blood is < 1,7 mmol/l. Increased levels of TAG can be found in: Familial hypertriglyceridemia (type IV familial dyslipidemia) - a typically autosomal dominant disorder characterized by an increased production of very low-density lipoprotein (VLDL) in the liver that can cause acute pancreatitis and usually manifests in adulthood. Familial hyperlipoproteinemia type I - a rare form of the disease characterized by very high levels of TAG (20 - 200 mmol/l). It can clinically manifest as abdominal colics, pancreatitis, hepatomegaly, or splenomegaly. Familial combined hyperlipidemia - the most common genetically determined dyslipidemia that can cause an early heart attack. TAG values are increased together with cholesterol blood values. Secondary form of HTG is linked to: Diabetic HTG - one of the most common forms of secondary HTG Alcohol abuse A diet rich in saccharides Obesity Pregnancy Multiple medications (diuretics, steroids, estrogen, beta-blockers, isotretinoin) Prevalence & Risk factors Hypertriglyceridemia is a very common disease with its prevalence constantly increasing, especially within the younger population. Prevalence differs worldwide, but it's been estimated that approximately 25-30% of the world's population suffers from hypertriglyceridemia. The real numbers might be even higher, due to the disease's lack of clinical symptoms and low amounts of patients undergoing regular preventive checkups. Hypertriglyceridemia is closely associated with uncontrolled diabetes mellitus, obesity, non-alcoholic fatty liver disease, and unhealthy lifestyles, which are more prevalent in developed countries. Some of the risk factors include: Age over 70 Sex - men are way more prone to develop HTG Family history Smoking Unhealthy diet Alcohol abuse Diabetes mellitus Obesity Metabolic syndrome Lack of physical activity High blood pressure Genetics There are many types of HTG and therefore the genetics behind each type differs. Many specific gene mutations have been identified, and the research still continues. [13] Primary HTG is a group of genetic disorders characterized by elevated triglyceride levels in the blood, caused by inherited factors. Table 1. HTG types and their genetic nature.[14] Secondary HTG are multifactorial - meaning that both, genetic and environmental factors, must occur for the disease to develop. Inheritance patterns are often unclear. [15] The genetic basis of hypertriglyceridemia varies, some types involve single gene mutations, while others are influenced by multiple genes and environmental factors. Genetic testing and consultation with healthcare providers or genetic counselors can help identify the specific genetic basis in individual cases. Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms HTG remains silent for a long time and usually doesn't cause any symptoms until severely elevated blood levels are seen (defined as TAG level over 11,4 mmol/l). If severe hypertriglyceridemia develops, patients may experience some of the following symptoms or body changes: Gastrointestinal: sudden abdominal pain, nausea, vomiting Difficulty breathing Eruptive xanthomas (lipid deposits in the skin) Lipaemia retinalis (abnormal color of the retinal arteries) Corneal arcus (whitish or great arc around the cornea) Xanthelasma (yellowish deposits of fat around the eyes) Diagnosis Although high glyceride levels are present in 20-30% of the adult population, there are usually no symptoms and the diagnosis is often incidental. The diagnosis and classification of HTG is purely based on the levels of TAG in the blood. It's important to realize that recommended values and values used for classification apply to fasting TAG levels. For a thorough examination, a so-called lipid profile should be obtained. It's a simple blood test, where medical specialists search for increased levels of all types of lipoproteins and cholesterol. Whenever a patient is diagnosed with HTG, the first step is to rule out secondary causes to settle a fitting treatment plan. Therapy The main goal of the HTG treatment is to lower the risk of developing cardiovascular disease or pancreatitis, both by non-pharmacological and pharmacological treatment. The most effective ways to lower triglyceride levels are lifestyle modifications, including a healthy diet, exercise, and weight loss. The most profitable is alcohol abstinence and a reduced intake of simple carbohydrates. If those changes aren't sufficient alone, pharmacotherapy might be indicated. Lifestyle changes Alcohol abstinence Exercise (at least 2,5 hours of aerobic exercise per week) Avoiding simple carbohydrates Weight loss (obesity is one of the causes of secondary hypertriglyceridemia) Glucose control (diabetes mellitus hugely increases the risk of complications) Pharmacotherapy Statins are the first-line drugs used to lower lipid levels by blocking the enzyme that the liver uses for lipid production. Non-statin lipid-lowering agents may be added if statins alone aren't sufficient in achieving treatment goals or the patient can't use statins. Fibrates Niacin (vitamin B3) Ezetimibe Omega-3 fatty acids (often found in sardine, salmon, and mackerel; or used as supplements) PCSK9 inhibitors Prevention Lifestyle modifications are the foundation of preventing HTG, same as in other metabolic diseases (i.e., obesity, metabolic syndrome, diabetes mellitus). Introducing a healthy diet and regular exercise can be extremely beneficial and can not be replaced by medications. Regular exercise (at least 2,5 hours of aerobic exercise per week) Avoid smoking Avoid alcohol abuse Diet changes Avoid simple carbohydrates (processed and refined sugars in candy, soft drinks) Introduce omega-3 fatty acids into your diet (can be found in salmon, mackerel, sardine) Avoid trans-fats (fast food, fried food, processed food) and saturated fats Eat regularly, optimally 5 times a day Stay hydrated Adhering to preventive check-ups is necessary to avoid the development of complications since HTG stays silent for a long time. Prognosis Without sufficient management of the disease, the prognosis is unfortunately poor, especially in the presence of other risk factors (high blood pressure, uncontrolled blood sugar, obesity, lack of physical activity). Patients with hypertriglyceridemia are at an extreme risk of developing coronary artery disease (up to 30%) and pancreatitis. The prognosis differs in genetically determined forms of the disease, but it's important to realize that although some of the severe states require strong will and strict restrictions in diet and lifestyle, most elevated triglycerides can be controlled, at least partially. Recommendations Improve your health by regular exercise, at least 2,5 hours of aerobic exercise per week. If you notice yellow-looking deposits around your eyes, get checked for high triglycerides. Introduce omega-3 fatty acids into your diet. Adhere to preventive checkups and blood tests to avoid the development of HTG complications.

### Restless Leg Syndrome

- URL: https://macromo.com/blog/diseases-risks/restless-leg-syndrome
- Published: 2023-12-06
- Category: diseases-risks
- Author: Yevhenia Rakhmankina

Observed genes Polygenic score Influential genes: BTBD9,MAP2K5 The MAP2K5 gene may affect the dopaminergic system, which is known to be involved in RLS. The BTBD9 gene plays a role in regulating brain iron levels, which are believed to contribute to the development of Restless Leg Syndrome. Overview Restless leg syndrome (RLS), also known as Willis-Ekbom disease, is a condition characterized by an urge to move caused by unpleasant feelings (tingling, pulling, the need to move, etc.) deep in your legs. It affects around 5-15% of the population. The risk factors include your geographic region and ethnicity, age, sex, family history, low iron stores, uremia, neuropathy, spinal cord disease, pregnancy, multiple sclerosis, and Parkinson's disease. Around 40-60% of cases have a positive family history suggesting a strong genetic influence. The symptoms are usually present during the night (inactivity) and can be relieved with movement, walking, or some maneuvers (rubbing, massaging, etc). RLS can lead to poor sleep, fatigue, daytime sleepiness, and depression. The diagnosis is based on the symptoms. The treatment includes lifestyle changes and medications. It is beneficial to have good sleep hygiene, avoid caffeine, and exercise regularly. Prevalence & Risk factors The prevalence of RLS is estimated to be 5-15% and it varies by region, ethnicity, age, and sex. [1] It is highest in the Northern European countries and declines in regions further east and south. The prevalence is increasing with age and is higher in females especially during pregnancy. [8] There are various risk factors predisposing the individual to RLS, including family history, low iron stores, uremia, neuropathy, spinal cord disease, pregnancy, multiple sclerosis, and Parkinson's disease. Genetics RLS is a syndrome with a strong genetic background. The number of possible associated (susceptibility) genes is still increasing, due to technological progress. However, there are other risk factors, such as ethnicity, age, sex, low iron stores, neuropathy, or pregnancy. Available reports suggest mainly autosomal dominant inheritance patterns with variable expressivity (the degree of expression of the phenotype of people with specific genotypes). Twin and family studies have indicated the contribution of genetics up to 70%. Approximately 50-60% of RLS cases have an affected first-degree relative. [2,3] The complexity of RLS has been proved by the increasing number of identified susceptibility loci (position on a chromosome where a particular gene or genetic marker is located) in the genome-wide association studies (GWAS), including MEIS1, BTBD9, PTPRD, MAP2K5, SKOR1, and TOX3 genes. The MEIS1 gene has the strongest association with RLS, but further research is needed. However, progress in the technological area is quite promising in terms of the identification of other genes. [4,5] Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms RLS is characterized by an unpleasant feeling in the legs which causes an urge to move them. Rarely RLS can involve arms as well, mostly in severe cases. RLS symptoms emerge during periods of inactivity, especially at night. The feeling is described as a "need to move", "crawling," "tingling," "restless," "cramping," "creeping," "pulling," "electric," "tension," "discomfort," "soreness," and "itching". Typically sensations are deep and occur between the knee and ankle. The symptoms are relieved with walking, other movements, and various maneuvers like rubbing, stretching, cold/hot water, etc. Some medications (antihistamines, dopamine antagonists, antidepressants) can worsen the symptoms. Diagnosis The diagnosis is made based on the medical history. Some additional tests (blood tests for iron levels and uremia) can be ordered as well and can help identify the cause. Therapy The treatment is focused on treating the underlying cause (e.g. iron deficiency treated with iron supplementation). If there is no clear cause, lifestyle changes can be beneficial. Baths, massages, and warm or cold packs can relax the legs and relieve the symptoms. It’s also important to have good sleep hygiene and exercise. If these aren’t effective, some medications can reduce the symptoms as well. These include medications that increase dopamine in the brain, drugs affecting calcium channels, muscle relaxants, sleep medications, and opioids. Prevention You can prevent the symptoms of RLS with some lifestyle modifications. Fatigue tends to worsen RLS, so good sleep hygiene is important. It includes going to bed at the same time every day, getting at least 7 hours of sleep, and a comfortable quiet sleeping environment. Regular moderate exercise is favorable as well, but overdoing it or exercising in the evening may worsen the symptoms. It is also recommended to avoid caffeine. Prognosis RLS is associated with poor sleep and insomnia. People tend to wake up during the night because of unpleasant feelings. This can lead to fatigue, daytime sleepiness, depression, etc. Recommendations If you experience the symptoms, visit your doctor. Improve your symptoms through good sleep hygiene, caffeine avoidance, and regular exercise. To ease your symptoms try soaking your legs in warm water, massaging, rubbing, etc.

### Asthma

- URL: https://macromo.com/blog/diseases-risks/asthma
- Published: 2023-12-05
- Category: diseases-risks
- Author: Luisa Gaspar

Observed genes Polygenic score Influential genes: RAD50,CSMD1,TH2LCRR The gene RAD50 is involved in DNA repair. Variants in this gene have been associated with an increased risk of asthma. The CSMD1 gene is plays a role in immune regulation. Several changes in the CSMD1 gene have been associated with asthma susceptibility. TH2LCRR is a regulatory region involved in the control of immune responses. Overview Asthma is a chronic inflammatory disease of the bronchioles, the tubes that carry air in and out of the lungs. It is characterized by airflow obstruction and episodic exacerbations. Asthma attacks are usually triggered by a substance in the environment, named an allergen, such as dust, smoke, air pollution, animal fur, pollen, or perfume. Allergens are recognized by cells of the immune system, activating an immune reaction that causes the release of chemical substances that contract the muscle around the bronchioles leading to its narrowing. This phenomenon is called bronchoconstriction. However, not all asthma episodes are triggered by an allergen. Sometimes, cold climate, exercise, emotional stress, and even certain drugs such as aspirin can lead to bronchoconstriction. Prevalence & Risk factors Asthma is the most common chronic disease in children, and its prevalence is increasing, with an estimated 300 million people affected by this condition worldwide, according to the WHO. [1] Mortality of asthma is uncommon and declining. Asthma typically starts at around three years old and might go away on its own before adulthood. In approximately 30% of children with asthma, the condition persists throughout their entire lives. [8] Genetics Asthma is a polygenic and multifactorial disorder. Therefore, numerous genes and factors contribute to its development. While environmental factors have been extensively studied in connection with asthma, genetics plays an equally crucial role in determining an individual's susceptibility to this condition. It is estimated that around 50% of the cases are linked to genetics and the other 50% to environmental factors. Several genes have been linked to asthma development. These genes influence processes such as airway inflammation and bronchoconstriction. Mutations in these genes can increase an individual's chances of developing asthma. [9,10] Notably, allergens like dust mites, pollen, pet dander, and mold can trigger asthma symptoms in genetically susceptible individuals, while air pollutants such as particulate matter, ozone, nitrogen dioxide, and sulfur dioxide can exacerbate symptoms and increase the risk of asthma development. Prenatal and postnatal exposure to tobacco smoke also escalates the risk of asthma development. Moreover, viral respiratory infections, especially during early childhood, can heighten the risk of asthma development, as genetic factors shape one's immune response to these infections. [11-13] Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms Symptoms of asthma include: dry cough that gets worse at night shortness of breath wheezing due to bronchoconstriction (narrowing of the air passages) In case of an acute exacerbation, symptoms like difficulty breathing, increased heart rate, and cyanosis (blue discoloration of the skin) – due to low oxygen in the blood (hypoxia). Diagnosis Asthma is diagnosed with pulmonary function tests. The most common are spirometry and skin prick allergy tests. It is essential to analyze allergies to determine which allergens are most likely to trigger an asthmatic episode. Therapy Inhaling corticosteroids and bronchodilators are the first-line therapy for asthma. In more severe cases, intravenous corticosteroids and oxygen might be needed. Moreover, there exists a novel technique that can help prevent the narrowing of the bronchioles and improve asthma control. This procedure is called bronchial thermoplasty (BT), alternatively called thermal ablation for severe asthma. A catheter is slid through the bronchoscope and radiofrequency waves are applied to the bronchi to reduce smooth muscle mass within the respiratory system. Several clinical trials demonstrate improvement in quality of life and reduction in deterioration rates after treatment. BT is a safe and effective treatment option for severe asthma which is resistant to medical treatment. [15] Prevention Avoid allergens and substances that can trigger an episode if you have asthma. Growing up in rural areas is a protective factor and for children raised in the city it may be beneficial to have pets. Prognosis Most people can achieve good control of their disease and live a normal life. Recommendations Ensure you have a diet rich in vitamin C, vitamin E, and zinc. Avoid carpets and blankets where dust and allergens can accumulate. Clean your house often and opt for regular wet cleaning of the house.

### Iron

- URL: https://macromo.com/blog/nutrition-and-diet/iron
- Published: 2023-12-05
- Category: nutrition-and-diet
- Author: Anna Fiserova

Observed genes Polygenic score Influential genes: HFE,HBS1L,ERFE The HFE gene influences iron absorption by modulating the expression of hepcidin, the main controller of iron homeostasis​ A genetic variant located in the intergenic region between HBS1L and MYB has been linked to a higher susceptibility to iron overload. ERFE is the an erythroid regulator of hepcidin, the homeostatic hormone controlling plasma iron levels and total body iron. Summary Iron is an essential mineral our body uses for many functions. We can get iron from various animal and plant sources. Iron deficiency can lead to anemia, but iron excess can also have harmful effects. Overview Iron is an essential mineral our body uses for many functions, like oxygen transport, synthesis of collagen, and certain neurotransmitters. Iron is found in various products, like meat, poultry, seafood, beans, nuts, and fortified cereal. If you don’t have enough of this mineral, you can develop iron deficiency anemia. Iron excess can also lead to adverse health effects. However, you should always remember that It’s important to consult your healthcare provider before taking any supplements. The importance of iron in the body Iron is an essential mineral that our body uses for many functions, but it is toxic to humans in its free form, so it is bound to various proteins. Around 70% of iron in our body is bound to proteins, hemoglobin, and myoglobin. Hemoglobin is a protein found in red blood cells that carries oxygen from the lungs throughout the body. Myoglobin, in its turn, is found in muscles and is used for oxygen storage. About 25% of iron is stored in a protein complex called ferritin, found in all tissues throughout the body, mainly in the liver, bone marrow, and skeletal muscles. Around 6% of iron is a component of various proteins used for metabolism and respiration; and a part of enzymes used for synthesizing collagen and certain neurotransmitters. Another protein, transferrin, is responsible for transporting iron in the bloodstream to storage places. Iron absorption and distribution are regulated by a hormone called hepcidin. [1] Iron types, sources, and requirements The daily iron requirements vary based on factors such as age, gender, and dietary choices. Iron is naturally present in a diverse range of foods and is added to certain fortified products. There are two primary forms of iron: heme iron and non-heme iron. Animal-derived foods such as meat, poultry, liver, and seafood provide both heme and non-heme iron. On the other hand, plant-based sources and iron-fortified products exclusively offer non-heme iron, which is less readily absorbed by the body. Consequently, individuals who follow a vegetarian diet, thus excluding animal products, may require nearly twice the amount of dietary iron. Notable sources of iron in plant-based foods encompass beans, nuts, dried fruits, fortified cereals, and more. Your body absorbs iron from plants better when you eat it with meat, poultry, seafood, or foods high in vitamin C, like citrus fruit, strawberries, tomatoes, broccoli, etc. [2] The recommended daily intake of iron is listed in the table below [2] : Iron supplements should only be taken after consulting a healthcare provider. Iron deficiency Your body stores iron, so not having enough in the short term doesn't show noticeable signs. But, once the iron storage is used up, you might get iron deficiency anemia (IDA), a condition characterized by small red blood cells with less hemoglobin that leads to insufficient oxygen transport throughout the body. IDA symptoms include upset stomach, tiredness, headaches, dizziness, trouble focusing, looking pale, weak nails, and getting sick easily. Pregnant women, infants and toddlers, women with heavy menstruation, people on a vegetarian diet, people with GI disorders and cancer, as well as frequent blood donors are all at a higher risk of developing IDA. [3] Iron deficiency can be diagnosed through blood tests and is usually treated with iron supplements. Consult your GP if you experience signs and symptoms of IDA for an appropriate treatment. Iron excess Iron in large quantities can be harmful. Iron absorption is well controlled in healthy individuals, so you can’t get iron overdose from food sources. However, taking high doses of iron supplements can lead to gastric upset, constipation, nausea, abdominal pain, vomiting, and diarrhea, as well as reduce zinc absorption. Really high doses can even cause gastritis and ulcers. [4] An inherited autosomal recessive disorder called primary hemochromatosis leads to increased iron absorption from dietary sources. People suffering from this disease have really high levels of iron that are deposited in various tissues in the body. This iron build-up can cause serious health problems, including cirrhosis, liver cancer, diabetes, joint pain, and heart diseases. [5] Genetics Genetic factors can affect the body's iron status by influencing the way the body absorbs, transfers, and uses iron. Mutations in certain genes can lead to conditions such as hereditary hemochromatosis, where the body absorbs too much iron, or iron deficiency anemia, where the body does not get enough iron. Other factors, such as diet and lifestyle, can also affect iron levels. [6] Iron metabolism is a complex process that involves the regulation of iron absorption, its transport, storage, and utilization. Several genes have been identified to play a role in these processes, including the HFE and TMPRSS6 genes. Mutations in the HFE gene are associated with hereditary hemochromatosis, leading to iron overload and damage to organs such as the liver, heart, and pancreas. [6,7] On the other hand, mutations in the TMPRSS6 gene have been linked to iron-deficiency anemia. Mutations in the TMPRSS6 gene cause hepcidin overexpression, reducing dietary iron absorption and leading to decreased serum iron and transferrin saturation. [8] Researchers continue to investigate the genetic factors that influence iron metabolism and how they interact with environmental factors such as diet and lifestyle. Understanding the complex molecular pathways and mechanisms involved in iron metabolism is important for the development of new treatments for iron-related disorders. [9] In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease or trait. All variants across their genome are summed and ranked according to their effect on disease development. Recommendations Ensure you're meeting the recommended daily intake of iron based on your age, gender, and life stage. Incorporate a variety of iron-rich foods into your diet. Animal-derived foods like meat, poultry, liver, and seafood provide both heme and non-heme iron. Plant-based sources such as beans, nuts, dried fruits, fortified cereals, and vegetables offer only non-heme iron. Enhance iron absorption from plant-based sources by consuming them with foods high in vitamin C, such as citrus fruits, strawberries, tomatoes, and broccoli. Vitamin C helps improve the absorption of non-heme iron. If you suspect an iron deficiency or have specific health conditions that put you at risk, consult a healthcare provider before taking iron supplements. Excessive iron intake, especially from supplements, can lead to adverse effects and should be managed under medical guidance. Avoid taking iron supplements without medical guidance. While iron is essential, excessive intake can lead to adverse health effects. Be aware of the genetic disorder called primary hemochromatosis. Regularly monitor your health. Health checkups can help detect any abnormalities early and ensure timely intervention.

### Histamine Intolerance

- URL: https://macromo.com/blog/diseases-risks/histamine-intolerance
- Published: 2023-12-05
- Category: diseases-risks
- Author: Anna Fiserova

Summary Histamine intolerance is a condition characterized by the inability to properly break down histamine, a compound naturally occurring in the body and many foods. Overview Histamine is crucial for various bodily functions, including immune responses, digestion, and brain function. Histamine intolerance is often caused by reduced activity of the DAO enzyme, responsible for breaking down histamine from ingested foods. This condition affects approximately 1% of the population and can result from genetic factors, allergies, gastrointestinal issues, medications, and dietary choices. Symptoms can vary widely and affect different body systems, including the digestive, skin, respiratory, cardiovascular, neurological, and musculoskeletal systems. Diagnosing histamine intolerance is challenging and involves ruling out other conditions with similar symptoms. It may involve maintaining a food diary and trying a low-histamine diet. Treatment typically includes dietary modifications, such as avoiding high-histamine foods and taking DAO enzyme supplements. Prevention involves avoiding histamine-rich foods and substances that trigger histamine release. With proper management, many individuals with histamine intolerance can significantly reduce their symptoms and lead normal lives, although it is considered a chronic condition. What is histamine? Histamine is a biogenic amine, an organic compound derived from the amino acid histidine. It is a vital molecule in the human body, participating in several physiological processes. Histamine functions as a neurotransmitter, modulating various brain functions, including wakefulness and appetite regulation. Additionally, it plays a crucial role in the immune response, acting as a chemical messenger during allergic reactions and defending the body against foreign invaders. Histamine also regulates stomach acid production, aiding in digestion. [1] Pathophysiology Histamine intolerance occurs when the body's histamine metabolism is compromised. The primary reason for this is often the reduced activity of the DAO enzyme. The body has two primary enzymes responsible for breaking down histamine: [2] Diamine Oxidase (DAO). DAO is found in the digestive tract, particularly in the small intestine. Its main job is to break down histamine that comes from ingested food. In individuals with low DAO activity, histamine can accumulate, leading to symptoms of histamine intolerance. Histamine N-Methyltransferase (HNMT). HNMT is primarily active in the central nervous system and helps degrade histamine within the brain. When histamine-containing foods are ingested, or histamine-releasing substances are encountered, individuals with DAO deficiencies struggle to break down histamine efficiently. As a result, excess histamine accumulates in the body, leading to a wide range of symptoms. Prevalence & Risk factors Histamine intolerance is a condition that affects a significant portion of the population. While prevalence estimates may vary, studies suggest that approximately 1% of people may experience histamine intolerance. [2] Several things can contribute to histamine intolerance by either affecting the histamine levels or the activity of the DAO enzyme. These include: [3] Genetics. Genetic factors can contribute to histamine intolerance. Variations in genes responsible for encoding enzymes like diamine oxidase (DAO) or histamine receptors may influence how the body metabolizes histamine. Allergies. People with existing allergies, particularly food allergies, may be at an increased risk of developing histamine intolerance. Allergic reactions trigger the release of histamine, further burdening the body's histamine processing mechanisms. Gastrointestinal problem. Certain GIT conditions can contribute to the development. These include colon polyps, malabsorption, food allergies, celiac disease, inflammatory bowel diseases (such as Crohn’s disease or ulcerative colitis), irritable bowel syndrome, functional dyspepsia, and small intestinal bacterial overgrowth (SIBO). Medications. Certain medications can inhibit the activity of DAO or promote histamine release. These include non-steroidal anti-inflammatory drugs (NSAIDs), certain antidepressants, antiarrhythmics, antibiotics, and some antihypertensive drugs. Diet. Some foods can also contribute to histamine intolerance through several mechanisms. Genetics Genetic factors influence how efficiently our bodies process histamine. Histamine intolerance is linked to gene variations involved in its metabolism, such as DAO and HNMT . These genes affect the enzymes responsible for the histamine breakdown. Mutations or polymorphisms in these genes can impair histamine clearance, contributing to intolerance symptoms. [8] Single nucleotide polymorphisms (SNPs) in the DAO gene have been found to significantly affect DAO serum activity. For instance, the minor allele at rs2052129 increases the risk of reducing its activity. [9] Environmental factors, like diet and gut microbiota composition, also interact with genetic predispositions, making histamine intolerance a complex interplay between genes and the environment. [3] Signs & Symptoms The onset and severity of histamine intolerance symptoms can vary significantly from person to person. Symptoms often worsen after consuming foods high in histamine or substances that trigger histamine release. Most commonly affected individuals experience gastrointestinal issues, but the condition can affect various systems because histamine receptors are found throughout the body. The symptoms include: [4] Digestive issues such as abdominal pain, bloating, diarrhea, nausea, acid reflux, and constipation. Skin problems like hives, itching, redness, and skin rashes. Respiratory symptoms include a runny or stuffy nose, sneezing, nasal congestion, wheezing, and difficulty breathing in severe cases. Headaches and migraines . Cardiovascular symptoms like a rapid heart rate, low blood pressure, dizziness, or lightheadedness. Neurological symptoms such as anxiety, panic attacks, fatigue, difficulty concentrating (brain fog), and sleep disturbances. Musculoskeletal symptoms like joint pain, muscle pain, and muscle cramps. Menstrual symptoms include menstrual cramps and irregular menstrual cycles. Diagnosis Diagnosing histamine intolerance is challenging and requires the exclusion of other medical conditions that can cause similar symptoms. The healthcare professional can begin by excluding conditions such as food allergies and intolerances, celiac disease, inflammatory bowel disease, etc. Patients may be asked to maintain a detailed food diary to track symptoms and identify potential triggers. A low-histamine diet may be recommended. If symptoms improve while on the diet and worsen when high-histamine foods are reintroduced, this can suggest histamine intolerance. [2,4] In some cases, blood tests measuring DAO enzyme activity may help confirm the diagnosis. Therapy Treatment for histamine intolerance typically involves dietary and lifestyle modifications, such as a low-histamine diet. It can include foods like: [5] fresh meat and freshly caught fish non-citrus fruits eggs gluten-free grains, such as quinoa and rice dairy substitutes, such as coconut milk and almond milk fresh vegetables except for tomatoes, avocados, spinach, and eggplant cooking oils, such as olive oil Maintaining a food diary can help you track your symptoms and identify specific triggers. Several studies have shown that DAO enzyme supplements can also lead to improvement in symptoms. [6] Prevention Preventing histamine intolerance symptoms involves avoiding triggers and managing your diet. It is recommended to avoid certain foods, including: [7] Foods and drinks that are rich in histamine alcohol aged cheeses canned, pickled, and fermented foods, such as sauerkraut smoked products, such as sausage, ham, bacon, or salami spinach eggplant ketchup vinegar canned fish, such as mackerel and tuna Foods that may trigger the release of histamine most citrus fruits cocoa and chocolate tomatoes egg whites fish peanuts Drinks that interfere with the activity of DAO enzyme alcohol energy drinks green tea black tea maté tea It is also recommended to avoid certain medications that can inhibit the activity of DAO or promote histamine release. These include non-steroidal anti-inflammatory drugs (NSAIDs), certain antidepressants, antiarrhythmics, antibiotics, and some antihypertensive drugs. Prognosis The prognosis for histamine intolerance varies. Histamine intolerance is generally considered a chronic condition, but with proper management, many people can achieve a significant reduction in symptoms and lead a normal life. Recommendations Consult a healthcare professional for proper diagnosis and guidance. Follow a low-histamine diet with an emphasis on fresh meat, freshly caught fish, non-citrus fruits, eggs, gluten-free grains, dairy substitutes, and certain fresh vegetables. Avoid foods and drinks that are high in histamine, lead to the release of histamine, or block the activity of the DAO enzyme. Maintain a food diary to track symptoms and identify trigger foods. Consider DAO enzyme supplements after consulting with a healthcare provider. Review medications with your doctor to assess if any are contributing to histamine intolerance.

### Bladder cancer

- URL: https://macromo.com/blog/cancer-risks/bladder-cancer
- Published: 2023-12-05
- Category: cancer-risks
- Author: Yevhenia Rakhmankina

Observed genes Polygenic score Influential genes: CASC11,TACC3 CASC11 can play crucial roles in the regulation of gene expression. Studies suggest that its overexpression may promote tumor progression, including in bladder cancer. TACC3 is crucial in cell division during mitosis. Mutations or overexpression of TACC3 have been found in various cancers, including bladder cancer. Summary Bladder cancer is the 10th most common cancer worldwide. There are many risk factors, with smoking being the most significant modifiable one. Bladder cancer has an excellent prognosis when diagnosed in its early stages. Overview Bladder cancer is the 10th most common cancer worldwide. There are many risk factors, with smoking being the most significant modifiable one. The other risk factors include being male, old age, exposure to carcinogens, consumption of alcohol and red meat, obesity, infections, etc. Bladder cancer typically presents with blood in the urine. Other symptoms like frequency of and pain during urination, or lower back pain, can also be present. In some cases, it can be asymptomatic. There are several examination methods available that can help with diagnosing bladder cancer. For example, cystoscopy, urinalysis, CT urogram, etc. The choice of treatment depends on several factors. You might prevent bladder cancer development by following some simple instructions: quit smoking, drink plenty of fluid, avoid carcinogens, alcohol, red meat, and consume a variety of fresh fruit and vegetables. The prognosis of bladder cancer is excellent when diagnosed at early stages. Prevalence & Risk factors Bladder cancer is the 10th most common cancer worldwide. In 2020, there were more than 500 thousand new cases. Greece has the highest prevalence of bladder cancer. It is mainly attributable to the high percentage of the smoking population. [1] Several risk factors contribute to the development of the disease. These include: Gender . Bladder cancer occurs four times more commonly in men than women. [2] Age . Bladder cancer predominantly affects older individuals. It mainly develops in people around 65-70 years of age. [2] Smoking . Smoking is the most significant modifiable risk factor for developing this type of cancer. It increases the risk by 3-4 times. [3] Occupational exposure . The second most important preventable risk factor is occupational exposure to carcinogens like aromatic amines, polycyclic aromatic hydrocarbons, and chlorinated hydrocarbons. These chemicals are used in the manufacture of dyes, rubber, leather, textiles, and paint products. It is estimated that 18% of bladder cancer cases are attributable to occupational exposure. [4] Environmental exposure . A naturally occurring heavy metal - arsenic, was also found to increase the risk of bladder cancer. However, most people aren't exposed to it in large amounts. [5] Alcohol . Alcohol was found to increase the risk of this cancer slightly. [6] Red meat . Recent studies have proved that consuming red and processed meat increases bladder cancer risk by around 15%. [7] Obesity . Obesity was found to increase the risk of bladder cancer by 10%. [8] Pathogens . A tropical parasite - protozoan schistosomiasis, infects people through freshwater exposure. It is known for its association with bladder cancer. [9] Chronic inflammation . Chronic or repeated cystitis (bladder inflammation) may increase the risk of bladder cancer. [10] Anti-cancer drugs . Certain medications used to treat cancer, like cyclophosphamide, have also been linked to developing this type of cancer. Also, radiation treatment to the pelvic region has been linked to it. [11] Not drinking enough water . It can keep carcinogens in the bladder for longer, causing more harm. Bladder anatomical congenital defects . Hereditary and genetic factors . Genetics Recent improvements in next-generation sequencing (NGS) technologies have largely helped scientists to understand the molecular processes happening during bladder cancer. Even though researchers suggest that positive family history among first-degree relatives might be a risk factor, results remain unclear. [16] From the genomics point of view, the mechanisms leading to bladder cancer are often related to oncogene activation and overexpression, mutations in tumor suppressor genes, loss of gene repair function, various nucleotide abnormalities, or defects in the signaling pathways. [17] Genetic changes (mutations) in certain genes, e.g. FGFR3, RB1, HRAS, TP53, or TSC1 , are considered to be involved in tumor formation in the urinary bladder; these genes are important in cell division regulation. Expression of the HER2 gene was examined in 354 patients and it was observed that in more than 32% of cases, the gene was highly expressed. Gene expression means that the genetic information (DNA) is copied to a molecule of mRNA (transcription, in the nucleus); these mRNA molecules are later transported to the cytoplasm, where the protein synthesis takes place (translation). The cancer genome atlas (TCGA) studied genetic information (DNA) from 131 patients with muscle-invasive bladder cancer (MIBC), resulting in the identification of 32 affected genes. Furthermore, research of another TCGA group (composed of 412 MIBC patients) pointed out 58 mutated genes. Analysis of DNA methylation and gene expression was also performed, finding that 158 genes were epigenetically silenced (meaning gene expression is affected but there is no change in the DNA sequence). [17,18] In Macromo, polygenic risk scores are used to determine the genetic risk. The polygenic risk score (PRS) is an estimate of the probability that an individual carries a given trait based on genetics, without considering environmental factors. Variants across their genome are summed and weighted according to their effect on the disease or trait. Signs & Symptoms Bladder cancer usually presents with nonspecific symptoms, but sometimes it can be asymptomatic. Other less severe medical conditions can present with the same symptoms. Usually, the first sign at a presentation is hematuria - blood in the urine. In some cases, you can see it with the naked eye (gross hematuria). In other cases, it can be found only after a urine lab test (microscopic hematuria). [12] Other symptoms include: Pain or burning sensation during urination Urinary frequency (using the bathroom too often) Feeling the urge to urinate several times through the night Feeling the need to urinate but not being able to pass the urine Lower back pain If cancer has spread to distant organs (metastasized), you can experience other symptoms depending on the affected organs. If you experience any of the symptoms, consult with your GP. It is very likely caused by benign conditions like cystitis (bladder inflammation), but they should be treated anyway. Diagnosis Your doctor can perform several tests to detect bladder cancer and learn more about it. However, not everyone will need all of the following examinations. [13] These include: Analysis of urine. A sample of urine is diagnosed under a microscope for the presence of cancer cells. Cystoscopy . Your doctor will use a cystoscope - a special thin device with a lens inserted through the urethra, to examine and visualize your bladder from the inside. Biopsy . During cystoscopy, a piece of tissue can be removed to be examined under the microscope. Sometimes this procedure is called transurethral resection of bladder tumor (TURBT) and can be used to treat cancer. CT urogram . It's a procedure performed using contrast dye to visualize the urinary tracts after a series of images by computer tomography. The contrast can be injected into the vein or directly into the urethra. Other tests include biomarker testing and genetic counseling. Additional imaging tests can be performed to determine if it has spread to distant organs. These include a CT scan, MRI, PET-CT, and ultrasound. Therapy Several treatment options for bladder cancer are available. The method of choice depends on several factors. The stage of cancer, grade (how aggressive it is), type, and the patient's wishes contribute to selecting the right treatment option. [13] The treatment options include: Surgery . It can be a less aggressive surgery like the transurethral resection of bladder tumor (TURBT) or a complete removal of the bladder - cystectomy. Intravesical chemotherapy . If cancer is confined to the lining of the bladder, chemotherapy (special anti-cancer treatment) can be injected directly into the bladder. Systemic chemotherapy . Chemotherapy for the whole body can be used to make the tumor smaller before surgery or instead of it if the cancer is not operable. Radiotherapy . Radiation can be used to treat cancer when surgery is not possible. Immunotherapy . It triggers an immune response and makes your immune cells destroy cancer. Targeted therapy . This type of treatment is preferred in advanced cases when other options have failed. Prevention You might be able to prevent bladder cancer by making some lifestyle modifications. Approximately half of bladder cancer cases are linked to smoking, including cigarettes, pipes, cigars, etc. If you smoke, talk to your doctor or specialist to help you quit. [3] Avoid exposure to carcinogens. You can be exposed to harmful chemicals if you work in manufacturing dyes, rubber, leather, textiles, paint products, etc. Make sure to follow all the safety rules and use protective equipment while working. [4] Eat a variety of fresh fruit and vegetables. Several studies suggest that it can lower cancer risk due to the high amount of antioxidants. [14] Drink lots of water. Limit consumption of alcohol. [6] Limit consumption of red meat. [7] Lose extra weight. Obesity is linked to higher risks of bladder cancer, so losing excess weight can help you prevent it. [8] Genetic testing. If you have a strong family history of bladder cancer, it might be a good idea to undergo genetic testing to be aware of your risks. Prognosis The 5-year survival rate means the percentage of people who survived for five years after the diagnosis. In general, the 5-year survival rate of bladder cancer is 77%. However, if it was diagnosed in the early stages, the 5-year survival rate is estimated to be much higher, 96%. [15] Recommendations Quit smoking if you are an active smoker. If you are not an active smoker, avoid passive smoking too. Avoid exposure to carcinogens. Eat a variety of fresh fruit and vegetables. Drink lots of water. Limit consumption of alcohol. Limit consumption of red meat. If you are overweight, try to reduce your weight. A nutritionist can also assist you with this process. Visit your GP if you have any symptoms of bladder cancer.

### Afraid to see your DNA results? How we decide which results does Macromo app display

- URL: https://macromo.com/blog/news/afraid-to-see-your-dna-results-how-we-decide-which-results-does-macromo-app-display
- Published: 2023-11-21
- Category: news
- Author: Macromo Team

With the advancements in medical technology comes another challenge in the face of the increasing health data available. While it is definitely helpful in early diagnosis and more effective treatment, we are determined to present all the data available in a comprehensive and easy-to-understand way, so as not to scare our customers , causing them psychological harm or leaving them with more questions than answers. ‍ Our goal is to link as much health data as possible to offer a holistic approach to your health. This includes your DNA results (evaluating your predispositions to certain diseases), blood test results (allowing you to monitor current state of your health continuously, at different moments), sleep and stress tests, as well as data from wearables and general lifestyle assessment. ‍ This is how we work with the health data and decide which results to show Macromo’s team of biologists and geneticists developed a Macromo Scoring method to decide which results to display to Macromo users. When we work with the risks of known diseases we run them through a thorough assessment, based on four distinct factors: preventability, detectability, treatability, and manageability. Each factor is assigned a relative score from 0 to 10. For example, on the scale of preventability, we estimate whether a ceratin disease can be prevented at all. As a result, we have diseases ranging from 0 (least preventable, like Huntington’s disease, for example) to 10 (as in most preventable, like lung cancer). The same applies for other categories, with some diseases scoring higher in one category and lower in the other. For example, when we look at detectability (how easy or difficult it is for doctors to detect the disease once it starts developing) some diseases, like hypertension, are quite easily detectable; thus, we assign them 10 points. Others, like Alzheimer’s disease which scores 0, are much more difficult to detect. Easily treatable diseases can score as high as 10 like hypothyroidism, or as low as 0, like, for example, ALS. Finally, we measure how easily the dieases can be managed, assigning from 10 points to the most manageable diseases (i.e. Type 2 Diabetes) to 0 points to the least manageable ones (like Parkinson’s disease). Categorizing each disease in this way, we can then come up with the Macromo Scoring, which combines all factors and determines which diseases we can further work with and present in our app. ‍ ‍ We then filter the diseases based on these scores and provide information about the ones that can be prevented or treated - because we strongly believe in people’s right to know about them in advance, so they can take action. ‍ Why we won’t show the diseases with low Macromo Scoring First and foremost, the majority of non-preventable diseases are already closely monitored and well-captured by the existing healthcare system. We believe they should be communicated only by professional doctors or geneticists, who would be able to further advise the patients on their options. ‍ Secondly, our goal is to empower people, not scare them. This is why we work only with preventable diseases, offering our customers further guidance on how they can improve their lifestyle and habits to prevent certain conditions from developing in the future. For the same reason, we always encourage people to not stop at the DNA test but keep actively monitoring their health and take proactive steps toward a healthier and happier life. One of the easiest ways to take action is by following recommendations tailored and delivered to you in our Macromo mobile app. ‍ We work towards creating better healthcare for all At the same time, we work hard to make modern medicine more precise and holistic in its approach to healthcare. We collaborate with health clinics that have already incorporated Macromo into their prevention plans, and we hope to bring this innovation to regular hospitals in the future. While we want to empower our mobile app users to take control of their health, we also want to help doctors make more informed decisions, thus reducing the instances of unjustified drug prescriptions or unnecessary tests. ‍ Our approach to testing is transparent and responsible, being the only solution currently. We store all your data securely in the EU, and while it is not linked to your identity, you have full ownership of it: you can download it anytime to consult with your doctor or request it to be deleted. ‍ The information you get from our tests should not be a source of fear, but rather a tool of growth and empowerment. There’s no reason to be scared of test results, on the contrary: taking back control over your health eliminates the primal fear of not knowing what the future holds. Macromo shows only your health risk factors which can be mitigated by changing your lifestyle and habits to prevent them or catch them early before they develop into serious problems. Knowing your predispositions and regularly monitoring your health allows you to stop living in fear and take ownership of your health. Explore a wide range of our tests to choose the one that’s right for you and embark on the path to a healthier, happier you! ‍

### How To Start Exercising And Stick to It? 8 Tips

- URL: https://macromo.com/blog/news/how-to-start-exercising-and-stick-to-it-8-tips
- Published: 2023-11-18
- Category: news
- Author: Macromo Team

Summary "I don't have time.", "I'm tired.", "I don't enjoy it.", "I'm too old for it." We always find reasons not to exercise. How can we start exercising and also continue? We'll help you to figure it out. ‍ "I don't have time.", "I'm tired.", "I'm not enjoying it.", "I'm too old for it." We can always find reasons not to exercise. How can we change that, start exercising and also continue? Motivating yourself to exercise can take more work than it seems. With the following eight tips, we'll help you figure out how to incorporate physical activity into your life for the long term. ‍ 1. Relax. Accept Yourself. There is nothing wrong with not exercising or starting and not adhering to it. Don't judge yourself if you don't feel like exercising or cannot continue once you've already started. Human beings have other needs, and our psychology is much more complex. It doesn't just work like people often think - I know exercise is good for me, so I will do it. And if I don't force myself to exercise, I should feel bad and ashamed of myself - because I'm not doing what's right. As Michelle Segar, director of the Center for Sport, Health, and Activity Research at the University of Michigan, says, "Society promotes exercise and fitness by hooking us with short-term motivations - guilt and shame." [1] ‍ And now imagine another situation - suppose you wish to start exercising to be healthy. Even this goal may one day become somewhat distant and will not be enough for you to actually continue. Again, you'll do it because you believe it's good for you - but it's also good to involve rest and relaxation in your free time, isn't it? Try changing your approach to exercise to a positive one. First, accept the possibility that it's okay not to exercise. After all, there are many other ways to stay healthy, and life is about so much more than that. Don't be so hard on yourself, and look for a way to enjoy exercise and have a positive attitude towards yourself. ‍ Studies show that people motivated by external reasons, such as "I've been told that exercise is good, and that's why I have to do it ", don't stick with exercise long term. But those whose motivation is internal - they exercise because they love it and enjoy it - will have a way easier time starting and also continuing. [2] ‍ 2. How to motivate yourself? Find an activity you love. Easier said than done - but worth it. Seek out a physical activity that you will enjoy wholeheartedly and which fulfils you. Try multiple activities to not get tired and annoyed and actually enjoy it. The variety of activities can help you get started and keep going. ‍ Try to involve your friends and loved ones in the activities. You will be more motivated to try different sports, and your exercise will become a fun time you get to spend together. Finding your true passion may take some time, but don't give up. If you really fall in love with the activity, not only will you exercise regularly, but your life will be much more varied and rich. ‍ Try different sports as you search for what's "right" for you. Common types of exercise include: Aerobic exercise - continuous movement, e.g. swimming, running, dancing, cycling, Balance or stability practice - to strengthen muscles and improve body coordination, e.g. Pilates, tai chi and core strengthening exercises, Flexibility - exercises that help to regenerate muscles, maintain range of motion and prevent injury, e.g. yoga or stretching, Callisthenics (weight training) - exercises at a moderate aerobic pace that don't use any equipment, such as lunges, sit-ups, push-ups and push-ups, Strength training - increases our muscle strength, a great way to bulk up, for example, resistance exercise, plyometrics (training to increase explosive power), weight lifting and sprinting, High-Intensity Interval Training (HIIT) is - short series of high and low-intensity exercises with breaks [3]. ‍ You can do the above activities individually or combine them. ‍ Lastly, remember to consider exercise as something other than exercise per se. Remember that physical movement also involves walks at any pace and in different surroundings, from a walk in nature with your loved ones to a regular busy day in the city. Until recently, it's been thought that the recommended number of steps each day for a healthy individual is 10,000. But last year, Dr Amanda E. Paluch and her team found in a study involving more than 2,000 individuals that as few as 7,000 steps a day reduces the likelihood of early death by 50 to 70 per cent. [4] You can also install a mobile app that automatically measures your step count. ‍ 3. Get to know your body better. This point is closely related to the points already mentioned. Our bodies have certain predispositions. Hereditary predispositions for different sports are encoded in our genes. So it might be possible that you tried to start exercising before and did a sport that was not really "your thing," which is why you stopped. As you try new activities, you'll learn which ones "fit" and make you feel better and which ones don't really suit you. ‍ Both genetic and environmental factors influence our sporting performance. Thus, an individual's sporting ability depends on the combination of their genetic predispositions and the surrounding environment, such as the support of family and friends, background and more. Genetic factors make up to 50% of the difference; environmental factors probably determine the other 50%, as suggested by studies examining similarities and differences in athletic performance within families, including between twins.[6] Our athletic potential depends on our genotype, while how close we reach our potential depends on environmental factors. [7] Environmental factors include an individual's lifestyle, diet, training method, the amount of support one receives from family and coaches, financial ability and other circumstances. [6] ‍ If you wish to know the genes determining your body better, consider genetic testing , which can help you reveal your genetic predisposition for a different types of activities. Our Macromo mobile app can even show you which particular sports fit you best. The DNA test will also disclose your predisposition for other factors such as diet, sleep or susceptibility to disease. The genetic test can benefit those who wish to optimise their lifestyle to suit their health. ‍ 4. Write down all the ways that exercise benefits you As impossible as it may seem, motivational boards and posters really work, because every time you look at them, it lifts your spirit, increases motivation and improves concentration. Try listing all the benefits of regular exercise and posting them somewhere. It will serve you well when you feel less motivated. ‍ Regular exercise has been shown to improve human health significantly. Here are a few ways how exercise can benefit you: ‍ It helps us maintain or achieve a healthy level of our body weight and muscle mass. [8,9,10] It reduces the risk of chronic diseases. [11] It improves mood and mental health. [12,13] It improves our sleep and also our sex life. [13,16,17] It helps us maintain good energy levels. [14] It reduces the risk of cancer. [18] It prevents many other diseases, including diseases of the circulatory system, such as stroke or heart attack. [19] It positively affects brain health, improving memory and cognitive function. [20,21,22] It reduces the risk of excessive weight gain, gestational diabetes and postpartum depression in pregnant women. [15] It reduces the level of inflammation in the body and builds strong immunity. [23,24] It improves the quality of life and slows ageing. [15,25] ‍ 5. Create an exercise plan and write down your achievements. Whether you choose to exercise at home, outdoors, or with friends, try to create a workout plan full of action. Remember to maintain the variability of the activities not to get bored. Exercise should make you feel positive, not bad, so if you are too tired one day and feel like you need a rest, give yourself one. In general, however, try to think of your scheduled time as a challenge to live a better and more varied life. ‍ How to create an exercise plan? For each day, write down what physical activity you want to do, when you want to do it and for how long. Be realistic, start gently and experiment. Nourish your body and give yourself rest for sufficient recovery. If you start exercising at home first and need to figure out exactly how to do it, you can use a wide spectre of mobile apps, which will design an exercise plan according to your needs and also show you exercises that are easy to do. You can also search for inspiration on YouTube or the internet; the possibilities are endless. ‍ For better motivation, write down your feelings after each exercise. Just write down briefly how you feel at that moment. It will help you in moments when you need encouragement. You can buy a notebook and turn it into your sports diary. First, design your exercise plan, and after each exercise, write underneath it how it made you feel and what you have achieved. You can also use tracking apps that measure your performance and back up your motivation with numbers and evidence of your activity. ‍ 6. Become part of a community. Turn your sporting activity into a fun activity - with your friends, loved ones or in a community. When you're not alone in it, you're more motivated to engage in the action and not only that - you cultivate friendships. At that point, it's no longer just about "working on yourself" or engaging in an activity you enjoy alone. You find a partner and a common topic to discuss and motivate each other. ‍ If you're not the social type and like to work out alone, you can take advantage of online communities or communities associated with certain mobile apps. One such app is Strava , for example, where the community supports each other and competes with each other. There are also active sports communities on Facebook and other social networks that share the latest trends and news. They motivate each other in exercise, regular exercise, running and other activities. Just search; we believe you will find the right fit! ‍ 7. Make a habit out of exercising. The hardest thing is to start and continue the exercise for at least a month. If you can do that, it will become easier and easier to continue exercising. Training will become part of your routine and a natural part of your life. In the beginning, however, you will need to keep your motivation high. As we've already mentioned earlier, if exercise becomes another item on your to-do list, you will probably stop. So turn it into a habit that will serve to relax and entertain you. For the first month, surround yourself with motivation, get your friends involved, and make it your challenge to prove yourself you're worth it. Always make time in your calendar for exercise, prepare music that motivates you, an audiobook that entertains you, get your sports clothes and other things you need for your workout ready early - and put them in a visible place. All of these small steps will help you begin forming a habit that you are comfortable with. Exercise will then become a natural thing for you. ‍ 8. Turn exercise into your priority. Our mind works on the level of meanings. Use the power of your mind and ask yourself what the exercise means to you and what it represents. For example, it can prove that you are taking care of yourself and your health. Or it may mean allowing yourself time to do what you genuinely find fulfilling and enjoyable. Put yourself first. If you do that, at that point, exercise is no longer first - you are first. For many of us, this is the stumbling block. We put our responsibilities, work, school, family and others first and often forget about ourselves. So try to make exercise not only about the physical aspect of it - but also about the mental aspect where you shape your priorities around you and put yourself first. After all, if you find an activity, you enjoy, making it your priority won't be that hard. But making yourself a priority can be a tricky thing. Think about it: what would be wrong with being first? If you're not in the first place, some part of you believes that it's because there are terrible consequences that would come with it and therefore doesn't do it. Change those beliefs in your mind and start prioritizing your health and happiness. Find an activity you enjoy and practice it - nothing is wrong with that. ‍ One last TIP for better motivation: reward yourself! If you enjoy the activity, you will be rewarded just by doing it. But you can also boost your psyche with personal rewards. When you stick to your workout plan's exercise routine, reward yourself. Treat yourself to something good - whether in the form of a tasty meal or something you've been meaning to buy for a long tim. Be proud of yourself. Praise yourself; you did it! ‍ Recommendations Change your approach to exercise. You will soon stop if you make it one of your other responsibilities. Try to make it fun. Put in the work and find an activity that you genuinely enjoy. If you fall in love with it, it will be much easier to keep going and incorporate it into your routine. Open your mind, experiment. Try all sorts of activities. You may like something you wouldn't have guessed in the first place. Create a simple exercise plan and try to follow it. Remember it to be both varied and flexible. Create a motivational poster where you list all the benefits of exercise. Keep it visible at all times. Make exercise an activity with friends or another community. Remember to be proud of yourself and reward yourself for a well-done job! ‍

### Food Intolerance: What Causes It?

- URL: https://macromo.com/blog/news/food-intolerance-what-causes-it
- Published: 2023-11-18
- Category: news
- Author: Macromo Team

Summary Food intolerance is a reduced ability of the body to digest certain types of food or food components. While less dangerous than food allergy, it lowers the quality of life of many people around the world. Find out about its causes and management. ‍ What Is Food Intolerance? Food intolerance is a problem with digestion of certain foods, usually accompanied by an unpleasant physical reaction. [1] This may include abdominal pain, rash, vomiting, bloating, or diarrhea. The onset of such symptoms is usually within hours after eating the food, but could be up to days. ‍ Studies show that approximately 3.6% of people have adverse reactions to food in their medical records. [2] This includes both food allergy and food intolerance, two commonly confused conditions. Here’s how to discern them: ‍ Not mediated by immune system Food intolerance, unlike food allergy, is not mediated by a hypersensitive reaction of the immune system. [3] Usually, the culprit is an insufficient enzyme that cannot effectively degrade a specific food molecule. ‍ Longer onset of symptoms With food intolerance, the symptoms occur gradually (in hours), while food allergy symptoms present almost immediately. This is also why the diagnosis of food intolerance is often so elusive - when symptoms occur hours (or days!) after eating, it is hard to link them with a specific food. ‍ Not a life threat Food intolerance is not life-threatening - as opposed to food allergy, which may result in anaphylaxis. The anaphylactic reaction is a medical emergency with rapid onset of symptoms such as rash, serious shortness of breath, vomiting and low blood pressure. In people with food allergy, this reaction can be triggered by trace amounts of food, while in food intolerance, this is virtually never the case. [4] ‍ Diagnosis The most common way to diagnose food intolerance is by elimination diet. First, you create a food diary, noting what food you ate at what time. Then, you link the symptoms with a particular food. The suspect food is excluded from the diet for 2-6 weeks [1] to see whether symptoms disappear or not. If they do, the food is reintroduced little by little. Often, people find that there is a certain amount of the food they can tolerate without any symptoms. ‍ As for laboratory testing, measuring antibody levels is the standard for differential diagnostics of some conditions. To name a few, anti-gliadin antibodies are measured when suspecting celiac disease, and anti-lactalbumin antibodies are tested for in non-IgE mediated cow-milk allergy (both in IgG and IgA class). [3] ‍ Another option is FOX (Food Xplorer), a testing kit for IgG antibodies against 286 food antigens. The results, however, are not diagnostic in themselves and must be carefully interpreted by your doctor. This is because increased levels of IgG antibodies may represent normal immunological response to food antigens. [5] In fact, increased IgG4 denote tolerance rather than hypersensitivity. [4] ‍ The 8 Most Common Food Intolerances 1. Dairy People whose symptoms occur after eating dairy products are very often lactose intolerant. In fact, the current estimates [6] suggest that 68% of people globally have some form of this condition. ‍ Lactose is a sugar contained in milk. It is digested by the enzyme lactase in the gut, which enables its absorption into the blood. Lactose intolerant people produce insufficient amounts of this enzyme. Undigested lactose then draws a lot of water into the gut, causing diarrhea. As lactose passes further into the colon, it is fermented by the microbiome in a process producing gas. This is why people also experience bloating and flatulence. [4] All of these lactose intolerance symptoms are commonly accompanied by nausea. ‍ As of now, there is no cure for lactose intolerance. However, symptoms can be controlled by a lactose-free diet. Patients are advised to avoid yogurt, milk, ice creams or soft cheeses. ‍ 2. Gluten Gluten is an umbrella term for some proteins contained in wheat, barley and rye. [4] In some people, eating gluten-rich foods induces unpleasant symptoms, such as bloating, diarrhea or abdominal pain. These are, however, not always attributable to gluten intolerance itself. This is because there are three different gluten-related health conditions: gluten intolerance, wheat allergy and celiac disease. Since their symptoms and associated health risks differ, it is useful to be able to distinguish them. ‍ Celiac disease Celiac disease is an autoimmune condition. This means that one’s own immune system attacks the body's own cells. In untreated cases, celiac disease can cause serious damage to the intestinal mucous membrane. ‍ This condition is based on the immune system’s hypersensitive reaction to gliadin, a protein found in gluten. [7] In other words, when gluten enters the gut, inflammation occurs. In the short term, this presents as bloating, diarrhea and nausea. In the long term, however, severe damage to the intestinal cells occurs. That’s why it is so important for these patients to avoid eating gluten altogether. ‍ At the level of genetics, there are two alleles that predispose for celiac disease: HLA-DQ2, HLA-DQ8. [4] Both of these are looked for when diagnosing celiac disease. ‍ Another important diagnostic test for celiac disease is the measuring of various antibody levels. Specifically, these include anti-TG (transglutaminase), anti-DGP (gliadin fragments), as well as anti-EMA (endomysium) in classes IgG and IgA. [7] ‍ Wheat allergy Wheat allergy is also mediated by the immune system. In this case, however, antibodies (IgE class) are produced against some of the proteins in wheat, but not necessarily gluten. [4] ‍ Wheat allergy is characterized by a rapid onset of nausea, hives or rash after eating food containing wheat. Swelling and itching of the mouth and throat are other very common symptoms. In severe cases, wheat allergy can be life-threatening in the form of an anaphylactic reaction (with symptoms such as breathing difficulties or fainting). This requires immediate medical attention. ‍ Wheat allergy can be diagnosed just like any other food allergy, by skin-prick tests and elimination diets. ‍ Gluten intolerance There are also people who experience unpleasant symptoms, but show no signs of celiac disease or wheat allergy in their laboratory and clinical tests. These are often, by exclusion, diagnosed with gluten intolerance (a.k.a. non-celiac gluten sensitivity). [8] ‍ Gluten sensitivity symptoms include: [9] bloating diarrhea abdominal pain rash headaches and fatigue depression ‍ Management The management of gluten intolerance, wheat allergy, as well as celiac disease is a gluten-free diet. [1] Patients need to avoid gluten-containing food, such as bread, pasta, beer, cereals or soy sauce. ‍ 3. Caffeine ‍Caffeine is a molecule found in coffee, tea, cola, and energy drinks. It increases alertness and attention, while decreasing drowsiness. For this reason, it is referred to as a stimulant. ‍ Caffeine acts by blocking adenosine receptors, which are found in the central nervous system, heart, or the colon. In our brains, adenosine is a sleep-inducing molecule. That’s why caffeine decreases drowsiness by blocking its effects. [10] Adenosine also lowers heart frequency. [11] Drinking caffeine-rich beverages, therefore, has the inverse effect of increasing the heart frequency. Interestingly, adenosine also regulates the motor activity of the colon. [12] This may also explain why many people report that even just a sip of coffee makes them want to go to the toilet immediately. ‍ In sensitive people, all of these effects may be amplified to the point when they become very unpleasant. Alertness turns to anxiety or insomnia, increased heart frequency becomes dangerously rapid heartbeat, and the urge to defecate reaches the level of diarrhea. Many also complain of heartburn. [12] ‍ The basis of caffeine hypersensitivity is genetic, to an extent (a variation in adenosine receptors). [10] Another important factor is the variation in the enzymes that metabolize caffeine. ‍ People with caffeine hypersensitivity should avoid drinking caffeine-rich beverages such as coffee, tea, cola, or energy drinks. ‍ 4. Salicylates Salicylates are naturally occurring chemicals in plants, which serve as protection against insects and pathogens. [13] These molecules can be found in almost every food, as well as some medications and perfumes. Salicylates generally have anti-inflammatory properties. Take aspirin, for instance - it is nothing else than acetyl-salicylic acid. ‍ In people with salicylate intolerance, unpleasant reactions occur in place of anti-inflammatory effects. The symptoms are often respiratory in nature [13], and include: stuffy nose asthma nasal polyps intestinal inflammation hives ‍ Salicylate elimination diets tend to be very restrictive, as salicylates occur in a vast array of foods. That said, avoiding “salicylate-bombs” such as spices, oranges and berries may have some positive effect. [13] Salicylate containing medications and those acting on COX-1 enzyme (e.g. aspirin and ibuprofen) should also be avoided. [13] In patients with severe symptoms, topical or systemic corticosteroid therapy is used. ‍ 5. Histamine Histamine is a molecule involved in immune reactions, neurotransmission and regulation of digestive functions. It is one of the mediators responsible for itching and swelling. The role of histamine is to make capillaries more permeable for white blood cells to enter into the infection site. [4] ‍ Histamine is present to various degrees in foods we eat on a daily basis. There is a natural balance between its degradation, intake and production. In our bodies, the degradation is enabled by the enzyme diamine oxidase (DAO). [14] It is precisely this enzyme that is dysfunctional in people with histamine intolerance. ‍ When histamine cannot be degraded properly, it accumulates in the body. Since it is a regulatory molecule, its buildup causes a variety of symptoms: [14] hives, itching headache, dizziness difficulty breathing bloating, diarrhea or nausea ‍ People with histamine intolerance are advised to adhere to a low histamine diet. This consist mainly of avoiding high histamine foods, such as: fish (esp. canned) meat (esp. cured) matured cheeses beer, wine & other fermented beverages beans, soy, mushrooms, tomatoes citrus fruits, raisins, strawberries chocolate ‍ 6. FOODMAPs The abbreviation FOODMAPs stands for fermentable oligo-, di-, mono-saccharides and polyols. [15] It is a group of short-chain sugars found in various foods. In sensitive people, FOODMAPs can be responsible for intestinal distress. ‍ FOODMAPs are not absorbed in the small intestine to any significant degree, and so they travel to the large intestine. [15] There, they are fermented by gut bacteria. In sensitive people, this process produces excess gas, and draws water into the gut. ‍ The symptoms include: [15] cramps diarrhea constipation bloating and flatulence ‍ FOODMAP intolerance is prevalent especially in people with irritable bowel syndrome (IBS). Emerging data suggests that a low FOODMAP diet brings symptom relief in these patients. [16] With low FOODMAP diet, people must avoid: [16] wheat, barley, rye beans, beetroot, lentils apples, avocados, peaches ‍ 7. Sulfites Sulfites are chemicals used as preservatives in foods and medications. While most tolerate them well, sulfites can cause adverse reactions in sensitive individuals. Sulfite sensitivity is most prevalent in asthmatics. [17] The most common symptoms are: [17] hives abdominal pain and diarrhea hypotension coughing and wheezing severe asthmatic reaction ‍ When a food or medication contains sulfite additives, it must be declared so on the packaging. Usually, products like wine, dried fruit, chips, pickled goods are relatively high in sulfite content. [17] ‍ 8. Fructose Fructose is a simple carbohydrate (sugar) found in fruit, vegetables and sweeteners. High fructose foods include apples, grapes, peas, zucchini, honey, and syrups. Another significant source of fructose are soft beverages containing high amounts of fructose corn syrup. This, incidentally, is one of the reasons why the consumption of fructose is on a steady rise. [18] ‍ Absorption of fructose in the small intestine is not dependent on any digestive enzymes. Rather, it relies on GLUT transporters. [18] These have a different capacity in different people, so once the capacity is overwhelmed by high intake of fructose, symptoms of malabsorption occur. Then, fructose travels to the colon, where it is fermented by gut bacteria, producing gas and drawing water to the colon. The symptoms of fructose intolerance are: [18] bloating and gas diarrhea abdominal pain nausea and vomiting ‍ Fructose intolerance can be inborn, or acquired by intestinal damage, diabetes, celiac disease or Crohn disease. [18] Avoiding high fructose foods and beverages is necessary to control the symptoms. ‍ Note: fructose intolerance (a.k.a. fructose malabsorption) is not to be confused with hereditary fructose intolerance: a much more serious condition characterized by a deficiency in a liver enzyme. ‍ Other Common Food Intolerances ‍ Egg intolerance In sensitive people, egg whites can cause abdominal discomfort or diarrhea. [19] This is different from egg allergy, which can be life-threatening. ‍ Food colorings Some food colorings (e.g. Red 40) can cause mild adverse reactions, mostly of the skin. [20] ‍ Other There are many other molecules that have been linked with intolerance, such as aspartame or MSG. However, the research on their adverse effects is largely inconclusive, and they are considered safe by the FDA. [21] While some studies do show that these substances can cause some symptoms, it is usually at dosages that far exceed those normally consumed. [21] ‍ The takeaway Food intolerances are, unlike food allergies, not life-threatening and not mediated by the immune system. ‍ If you are experiencing adverse reactions to food, intolerance can be established by elimination diets and laboratory tests. ‍ While more unpleasant than dangerous, diagnosing and managing your food intolerance can significantly improve your life quality. ‍

### Daytime Cortisol Levels

- URL: https://macromo.com/blog/blood-metabolic-health/daytime-cortisol-levels
- Published: 2023-11-06
- Category: blood-metabolic-health
- Author: Barbora Hamernikova

Summary Cortisol, often referred to as the "stress hormone," plays a crucial role in the body's stress response and regulation of various physiological processes. It is produced by the adrenal glands, situated on top of the kidneys. Cortisol levels during the daytime follow a natural rhythm known as the circadian rhythm, influencing a range of bodily functions and overall well-being. Overview Cortisol participates in various functions in the human body. Its secretion is linked to the hypothalamic-pituitary-adrenal (HPA) axis, a complex network involving the hypothalamus, pituitary gland, and adrenal glands. The adrenal glands release cortisol in response to signals from the HPA axis, which is activated during stressful situations as well as part of the body's natural daily rhythm. Cortisol can affect almost any organ and tissue in the body. It takes part in responding to stress, reducing inflammation, regulating blood sugar and metabolism, and controlling blood pressure. The concentration of cortisol in the bloodstream is influenced by various factors, including stressors, physical activity, sleep patterns, and certain medical conditions or medications. [1-3] The levels of cortisol fluctuate throughout the day. It typically peaks in the morning, right after waking up. This surge of cortisol helps kickstart your day by providing a boost of energy and alertness. As the day progresses, cortisol levels tend to gradually decrease. Nighttime cortisol levels should be at their lowest, facilitating rest and sleep. This drop in cortisol supports the body's efforts to wind down and recover. If cortisol levels are too high or too low, it may indicate a problem with the adrenal glands, pituitary gland, or a cortisol-secreting tumor. It can be used to diagnose and monitor diseases such as a set of diseases causing Cushing's syndrome (too much cortisol), Addison's disease (adrenal glands do not make enough cortisol), or secondary insufficiency due to a dysfunctional pituitary gland. What should you know about cortisol levels? A cortisol test measures the level of cortisol in your blood, urine, or saliva to see if your levels are normal. Analyzing cortisol levels at different times of the day provides insights into your stress response and adrenal health, helping to identify potential imbalances. [4-6] Morning Cortisol Low Levels Lower-than-normal morning cortisol levels might point toward adrenal insufficiency, fatigue, or disrupted sleep patterns. High Levels Elevated morning cortisol levels could indicate excessive stress or overactivation of the adrenal glands. This might result in symptoms like restlessness, anxiety, and insomnia. Afternoon Cortisol Stable Levels A steady decline in cortisol during the afternoon is generally indicative of a balanced stress response and healthy adrenal function. Disrupted Levels A sudden increase or decrease in afternoon cortisol levels might signal an irregular stress pattern, potentially linked to chronic stress, poor sleep, or hormonal imbalances. Night Cortisol Stable Levels Adequately reduced cortisol levels at night support quality sleep, allowing your body to rest and recharge. Disrupted Levels Extremely low or high night cortisol levels might indicate disruptions in the circadian rhythm, which could contribute to sleep disorders and impact overall health. Elevated levels during the night cause difficulty falling asleep, staying asleep and reaching deeper stages of sleep. What are the possible causes? High levels of cortisol over a long period of time can cause Cushing's syndrome, a set of symptoms caused by a number of external factors and diseases. The most common cause is taking high doses of steroid medications for a long period of time. Alternatively, it can result from a tumor in the pituitary gland, causing it to produce too much ACTH – a hormone that signals your adrenals to release cortisol. Another possibility is a tumor in the adrenal glands that causes excessive production of cortisol directly. It’s important to consult a doctor for proper evaluation and guidance. Cushing's syndrome is characterized by a distinctive appearance that can be identified by slender arms and legs, a rounded face, increased fat around the abdomen and neck, and prominent broad purple stretch marks. Additionally, high cortisol levels can contribute to other health issues, including high blood pressure, elevated blood sugar levels, muscle weakness, osteoporosis, acne, and irregular menstruation. Low cortisol levels can sometimes indicate problems with adrenals, like Addison’s disease (primary adrenal insufficiency). Alternatively, it might arise due to a malfunction of the pituitary gland, resulting in insufficient production of ACTH (secondary adrenal insufficiency). However, the main reason for low cortisol levels is often the sudden discontinuation of steroid drugs after long-term use. Low cortisol can lead to fatigue, loss of appetite, weight loss, muscle weakness, and abdominal pain. If you experience any of these symptoms, please contact your healthcare provider for further evaluation. Diurnal cortisol response [13-16] The Optimal Response Morning cortisol levels usually reach their peak shortly after waking, usually within 30 to 45 minutes. Cortisol levels gradually decrease during the day and reach their lowest point late in the evening or at night. This drop prepares the body for rest and sleep. Fig. 1: The Optimal cortisol response curve. The Flattened Curve The flattened diurnal cortisol curve is characterized by less variation in cortisol levels during the day. This can mean a lower morning cortisol level, a smaller drop during the day, or both. It can be caused by several factors, such as chronic stress, irregular sleep patterns, certain health problems, or medications. Fig. 2: The Flattened curve of the cortisol response. The Inverted Curve An inverted curve may indicate a circadian rhythm disorder, which can be caused by long-term stress, shift work, sleep disorders, or other factors. It may also indicate underlying health problems that affect cortisol regulation. Fig. 3: The Inverted curve of the cortisol response. Chronic Stress Curve (one of several curve variants) The cortisol curves in chronic stress reactions may show, for example, relatively high morning levels followed by disproportionately low afternoon and nighttime levels. This pattern reflects an altered body response to stress, which may be related to circadian rhythm disturbances or health problems that affect cortisol regulation. Fig. 4: Salivary cortisol response to chronic stress. Genetics Certain genetic differences impact how our bodies produce, utilize, and metabolize cortisol. For instance, variations in the gene encoding the glucocorticoid receptor can modify how sensitive the receptor is to cortisol. These genetic variances shape how individuals react to stress and their sensitivity to conditions linked with imbalances in cortisol. [7,8] Recommendations Maintaining balanced cortisol levels is an important aspect of good health. The following techniques are evidence-based and are also well-known for to their simplicity and effectiveness: The basis of a healthy lifestyle and well-being is regular physical activity, a balanced diet, sufficient sleep, and hydration. Consult your healthcare provider if you experience any symptoms of high or low cortisol levels. Stress management is essential. Techniques like meditation, deep-breathing exercises, and guided imagery can help manage stress levels. Excessive caffeine can disrupt your sleep cycle and increase cortisol levels. If you consume more caffeine than recommended during the day, reducing your intake could be very beneficial. A regular sleep schedule aligns with your body's circadian rhythm, helping regulate cortisol production. An interesting effect of aromatherapy has been observed. In some studies, the use of lavender and rosemary scents had the effect of lowering serum cortisol levels and relieving anxiety. [9,10] Laughter has been shown to reduce stress and cortisol release. For example, watching an entertaining movie or enjoying time with family and friends can be beneficial. [11,12] The information and tests provided on our website are for educational purposes only and are not a substitute for professional medical advice. Always consult with your healthcare provider before making health decisions. Our tests do not diagnose or treat diseases. Individual results may vary and should be discussed with a healthcare provider.

### Choosing the right Macromo DNA test: Comprehensive Comparison

- URL: https://macromo.com/blog/news/choosing-the-right-macromo-dna-test-comprehensive-comparison
- Published: 2023-11-05
- Category: news
- Author: Macromo Team

Deciding which Macromo DNA test is best for you can be an exciting but challenging task. Macromo offers 3 DNA test options that differ in price, technology used and number of results. To help you make an informed decision, we will compare the available options and highlight their unique features. ‍ ‍ Macromo DNA Essential: Price: 7 000 CZK Technology: Microarrays (digitizes selected significant parts of DNA) If your main concern is prevention, Macromo DNA Essential is an excellent choice. It examines how your genes affect your health and identifies risks for various diseases* such as diabetes, cancer and heart disease. With over 76 results, this test allows you to proactively manage your health and prevention. In total, it includes 76+ results. Disease risks 43 results Cancer risks 12 results Family Planning 19 results Recommended for: Those who want to understand their genetic predispositions to common health conditions and take proactive steps to prevent them. Shop Macromo DNA Essential ‍ Macromo DNA Premium: Price: 12 000 CZK Technology: Microarray (digitizes selected significant parts of DNA) Macromo DNA Premium combines insights from the Health and Lifestyle tests to provide a comprehensive analysis of your genetic profile. It also includes results on drug metabolism and offers a thorough understanding of your health, nutrition, fitness and sleep. The Macromo DNA Premium test uses microarrays technology with expanded coverage for pharmacogenomics - analyzing 1.9 million significant variants in DNA, 3 times more data than other commonly available tests. With over 144 results, this option is designed for those looking for a comprehensive overview of their genetic makeup. In total, it includes 144+ results. Disease risks Cancer risks Family Planning Medications Nutrition and diet Fitness and sport Sleep and Wellness Physical traits Recommended for: Individuals who want to thoroughly explore their genetic makeup and gain insights into health, lifestyle and medication. Shop Macromo DNA Premium ‍ Macromo DNA Whole Genome Sequencing 30x: Price: 29 000 CZK Technology: Next Generation Sequencing (digitizes 100% of genetic information) Using state-of-the-art sequencing technology, Macromo DNA Platinum provides a comprehensive analysis of your genetic information, including disease risks, drug reactions, athletic predispositions and more. Next-generation sequencing technology reads the complete DNA record 30 times to eliminate any errors, resulting in a highly accurate, complete digital record of your genetic information. With an impressive report of over 159 results, this test offers a deep understanding of your genetic profile, including carrier status for recessive diseases. In total, it includes 159+ results. Disease risks Cancer risks Family Planning Medications Nutrition and diet Fitness and sport Sleep and Wellness Physical traits Recommended for: Those seeking the highest level of detail and a comprehensive view of their genetic makeup, especially for complex health and medical considerations. Shop Macromo DNA WGS ‍ ‍ * Our DNA tests include genetic risks for diseases that can be effectively prevented by lifestyle changes or appropriate prevention (you will receive these recommendations in the Macromo app along with your results), or for diseases that have a very good chance of successful treatment, especially if detected early. You can see the specific diseases included in the test here. ‍ When choosing a Macromo DNA test, consider your goals, preferences and budget. Whether your priority is lifestyle optimization, disease prevention, a comprehensive overview or family planning, there is a Macromo DNA test that will reveal the valuable information you are looking for. Take control of your genetic potential and embark on a personalized journey to a healthier, happier life.

### How to Understand Your Macromo Genetic Results

- URL: https://macromo.com/blog/news/how-to-understand-your-macromo-genetic-results
- Published: 2023-11-04
- Category: news
- Author: Macromo Team

In the digital age, personal health management has reached new heights with the development of at-home DNA tests. These tests, like those offered by Macromo, give users a deep-dive into their genetic makeup, all from the comfort of their homes. Once your saliva sample is sent off, tested and analyzed, you can then access the results via the Macromo mobile app. It’s a simple, convenient, and enlightening process, but understanding your genetic results can be a bit complex. So, let's break it down! Different Types of Genetic Risks When it comes to assessing genetic risks, two key methods come into play - Polygenic Risk Scoring and looking for, mostly monogenic, High-Risk Variants. Think of your genes like a team working on a project. In a monogenic approach, a single gene takes the lead and heavily influences the outcome. For example, lactose intolerance is largely dictated by a single gene. If that particular gene has a mutation, it's like having a project leader who doesn't understand lactose, leading to an intolerance when your body tries to digest it. On the other hand, polygenic risk scoring is like having several team members each contributing a little to the final outcome. It's a statistical approach where the tiny influences of many different genes are added together to predict the risk of diseases like type 2 diabetes. It's a bit like baking a cake; each ingredient (gene) may not have much effect on its own, but together they create something significant. Most genetic risk scores in Macromo are of the polygenic type. You can read more about the variants from the genes that are counted in the risk scoring on the Macromo Insider. Disease Risk Scores Explained The Macromo mobile app presents these genetic risk scores in an easy-to-understand graphical format. All genetic risks are divided into three color-coded categories - Average Risk (green), Elevated Risk (orange), and Higher Risk (red) . These scores represent your relative risk in comparison to the population group you belong to, let's say Europeans, as an example. An "Average Risk" status indicates that your polygenic risk score is less than the 80th percentile in the population. Therefore, the genetic part of the risk that contributes to whether a disease develops in you is not significantly higher. You fall in the same group of average risk as 8 out of 10 people. ‍ ‍ If you fall into the "Elevated Risk" category, your risk score lies between the 80th and 99th percentile. This means that your genetic risk score is higher, compared to 8 out of 10 people. In other words, only every fifth person shares the same level of genetic risk as you do. Nevertheless, the genetic risk is only one part of the whole problem, especially in polygenic risks which are highly influenced by external factors such as dieting, exercising, and good sleep. ‍ ‍ The "Higher Risk" category is the most significant, indicating that your polygenic risk score is above the 99th percentile or a known high-risk variant is present. This means that you have a higher genetic part of the disease risk than 99 out of 100 people in the general public. This isn't an immediate cause for panic; rather, it's like having a weather warning - something to be aware of and to discuss with a health professional. It is also very likely that the disease might be in your family history. ‍ ‍ Remember, these percentiles, represented as the bars in the Macromo app, are not direct indications of absolute risk but are comparative tools used to help you understand where your risk levels fall relative to others so that you can take early action to prevent the disease that they represent. Empowering Your Health Journey with Macromo Understanding your genetic results is a crucial part of disease prevention and living a full, healthy life. It's not about predicting the future, but rather arming yourself with information to mitigate potential risks. Macromo's mobile app makes this information accessible, user-friendly, and beneficial for those keen on understanding their health better. Armed with insights from Macromo's genetic tests and the vast suite of digital features, users can create personalized lifestyle changes, build healthier habits, and potentially prevent the onset of chronic ailments. Macromo simplifies the experience of tracking and acting on health. In the realm of preventive healthcare, knowledge is indeed power. The information provided by Macromo does not diagnose any disease or condition. It is intended for informational purposes and should be used in consultation with healthcare professionals.

### Obstructive Sleep Apnea Syndrome

- URL: https://macromo.com/blog/diseases-risks/obstructive-sleep-apnea-syndrome
- Published: 2023-11-03
- Category: diseases-risks
- Author: Yevhenia Rakhmankina

Observed genes Polygenic score Influential genes: SLC52A3, PACRG A missense variant in the SLC52A3 gene was associated with Obstructive Sleep Apnea A study identified an association of Obstructive Sleep Apnea with the PACRG gene. Overview Obstructive sleep apnea (OSA) is a condition in which individuals experience pauses in breathing during sleep. It is associated with a complete or partial closure of the airways. Patients often tend to snore and gasp as well. This influences the patient’s sleep and leads to fatigue and daytime sleepiness. It affects around 15% of adults and the prevalence is higher in men and increases with age. [1] Various genes are associated with this condition and are responsible for 40% of all cases. [2] Other risk factors include obesity, family history, some medications, smoking, alcohol, and other comorbidities. It can be diagnosed using various questionnaires or doing a sleep study (polysomnography). The treatment consists of lifestyle modifications and special devices that allow you to breathe normally during sleep. Prevalence & Risk factors The prevalence is estimated to be 15% of middle-aged adults. [1] It increases rapidly with age and is higher in men. Obesity is present in 70% of cases and is a major risk factor - fat deposits around the upper airway can constrict the airways making it difficult for patients to breathe, especially when asleep. Other risk factors include craniofacial and upper airway structural abnormalities, smoking, a family history of OSA, snoring, nasal congestion, some substances (like alcohol, benzodiazepines, opiates), and various health conditions (congestive heart failure, hypertension, Atrial fibrillation, pulmonary hypertension, end-stage kidney disease, chronic lung diseases like COPD, stroke, pregnancy, acromegaly, hypothyroidism, PCOS, Parkinson’s disease, etc.) Genetics OSA is a genetically complex disease that results from multiple interacting genetic and environmental factors.[2] Knowledge of the genetic background of OSA is quite behind compared to other common diseases. Obesity is known to be a major risk factor for OSA, which can be well managed. Meanwhile, studies of candidate genes focused on the relationship between selected single nucleotide polymorphisms (SNPs) and OSA phenotypes. Despite the fact that the main risk factor is known as obesity, which is diagnosed in about 70% of OSA cases, it has been found that first-degree relatives of an OSA patient are at higher risk to snore or suffer from apneas. After taking into account obesity, age, and gender. One previously submitted genome-wide linkage analysis from the Cleveland Family study describes a connection between the ANGPT2 gene and mean nocturnal oxygen saturation, which indicates the severity of OSA.[3,4] The LPAR1 gene is thought to be a potential susceptibility locus among African Americans, and PTGER3 gene polymorphism is likely to be associated with OSA among Europeans.[5] Furthermore, variations in 5-HTR2A (1438G/A) and 5-HTT genes might contribute to OSA as well, more specifically A allele of the 5-HTR2A polymorphism significantly increases the risk of OSA.[6] It is important to mention that more studies and research is needed to deepen the knowledge of the genetic background of OSA. The majority of the studies struggled with small sample sets and cohorts, but the research is improving due to the technological progress in the field of next-generation sequencing. Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms Most patients with OSA have a poor quality of sleep and complain of daytime sleepiness, morning headaches, or their bed partner reports loud snoring, gasping, choking, snorting, or interruptions in breathing while sleeping. This can lead to depression, decreased libido, impaired concentration, etc. Often people suffering from OSA are not aware of the problem, they don’t remember waking up. Diagnosis The diagnosis is based on sleep history, questionnaires, and sleep studies (polysomnography). The primary measure that is used to establish the diagnosis is the apnea-hypopnea index (AHI). This is obtained from overnight polysomnography (PSG) and is a count of the number of episodes of breathing obstruction per hour of sleep. Polysomnography records your brain waves, the oxygen level in your blood, heart rate, and breathing, as well as eye and leg movements during the study. Male and female subjects are often considered to have OSA if the AHI exceeds a certain level, usually 5-10 events per hour. Therapy The treatment of choice is keeping the airways open by continuous positive airway pressure (CPAP) throughout the night. People use a special machine - it delivers air pressure through a piece that fits into your nose or is placed over your nose and mouth while you sleep. A Mouthpiece (oral device) can be used as an alternative. These are designed to keep your throat open during sleep. Otherwise, there are also some surgical procedures that could be performed to alleviate the symptoms. Prevention It is possible to improve your symptoms and prevent the development of OSA through various lifestyle modifications. A lot of patients with OSA suffer from obesity and loss of weight can have a big influence (healthy diet and physical activity). Other preventive measures are cessation of smoking and alcohol intake (especially before bedtime), avoiding sedatives (like anti-anxiety or sleeping pills), and using a nasal decongestant or allergy medications if needed. Sleeping on the side or stomach can also lead to some improvements. Prognosis OSA can lead to many serious complications. It is one of the most common causes of secondary hypertension. OSA also increases the risk of other cardiovascular conditions like coronary artery disease, heart attacks, heart failure, strokes, and abnormal heart rhythms (arrhythmias). The daytime sleepiness puts people at risk of work-related accidents and traffic accidents (falling asleep while driving). Other complications include eye problems (such as glaucoma and dry eyes), metabolic disorders (diabetes type 2), problems with pregnancy (gestational diabetes or low-birth-weight babies), and complications after surgery. Recommendations If you experience any symptoms, visit your doctor. Improve your health through physical exercise, a healthy diet, and smoking cessation. Don’t drink alcohol or take any sedative medications before bedtime. Use a nasal decongestant or allergy pills if needed.

### Migraine

- URL: https://macromo.com/blog/diseases-risks/migraine
- Published: 2023-11-03
- Category: diseases-risks
- Author: Nuno Lemos

Observed genes Polygenic score Influential genes: CACNA1A, HMOX2, NPFF In a genome-wide association study of migraines, a risk variant in the HMOX2 gene was found to be specifically associated with migraine with aura. Mutations in the CACNA1A gene have been associated with familial hemiplegic migraine (FHM) Although the precise function of NPFF in migraines remains incompletely understood, it is believed to play a role in various mechanisms associated with inflammation and the modulation of pain. Overview Migraine is a primary headache, meaning it is unrelated to other conditions, characterized by recurrent episodes of unilateral, localized pain frequently accompanied by nausea, vomiting, and sensitivity to light and sound. The exact cause of migraine is unknown, although various factors are thought to contribute to its development and severity. These factors can either be genetic or a result of temporary changes in the chemicals, nerves, and blood vessels in the brain. Migraine is associated with cardiovascular, psychiatric, and sleep disorders. It is the second most disabling condition worldwide. The affected patients report missing work or school, cannot perform daily activities, or reduced participation in social and family activities. Chronic migraine is associated with higher headache-related disability/impact, medical and psychiatric comorbidities, health care resource use, direct and indirect costs, lower socioeconomic status, and health-related quality of life.[1] Prevalence & Risk factors Migraine is a common health condition affecting around one in every five women and around one in every 15 men. It usually appears early in adulthood, peaking at 30-39 years.[2] Well-known triggers contribute to migraine attacks: Poor sleeping habits Emotional stress Weather changes Hormonal changes in women related to menstruation or oral contraception Use certain substances such as alcohol or nicotine Consumption of chocolate, dairy, and others Even though its cause is unclear, there is a high correlation with a genetic predisposition, being present in up to 60% of first-degree relatives.[3] Genetics Migraine is a complex disorder composed of several subtypes. The most common forms are migraines without aura (MO) and migraines with aura (MA). Most of them have a polygenic nature (cooperation of multiple variants with small effects) with heredity between 34-64%. In addition to genetics, lifestyle and the environment (stress or sleep) also contribute to the development of migraine. Identification of genes and variants associated with monogenic disorders has been enabled by progress in the field of new generation sequencing (NGS) and genome-wide association studies (GWAS) conducted on large case-control cohorts have given us information about common polygenic forms of migraine. Common variants include single nucleotide polymorphisms (SNPs), insertions and deletions, short tandem repeats, or copy number variants.[4] Large GWAS meta-analysis of migraine identified 123 potential risk loci connected to migraine.[5] There are several rare monogenic subtypes, caused by autosomal dominant mutations in genes encoding ion channels. Research studies focused on the rare subtypes have uncovered mutations in CACNA1A, ATP1A2 , and SCN1A genes. These genes are eminent for the transport of ions in synapses (space between nerve cells) and the transmission of signals. Furthermore, a study focused on MA has pointed out a frameshift mutation on the KCNK18/TRESK gene, which is considered causative. The assumptions of the effect of X-chromosome hormones are also a current research topic, given the fact that the majority of migraineurs are females (3:1). Moreover, mitochondrial DNA and epigenetics might play a certain role as well, however, these hypotheses need further investigation.[6] Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms This condition is characterized by recurrent attacks passing through several stages. The prodromal phase is not always present, but it can appear one to two days before the beginning of the headache when the person starts to yawn excessively, experience sudden hunger or a lack of appetite, and mood changes. Typically preceding the headache, one can suffer neurological symptoms such as visual, sensory, and speech disturbances, or even, in rarer cases, paresis and dizziness. This pre-headache stage is the so-called “aura”. The headache itself has its characteristic signs and symptoms. They are unilateral, lasting up to 24 hours, and progress to pulsating throbbing and pounding pain. Exercise can worsen the pain intensity. Light and sound sensitivity, nausea, and vomiting are commonly associated with migraines. The postdrome stage, the last one, can be present when muscle weakness or feeling of exhaustion/euphoria settles in. These patterns may differ and not always follow the four stages. Diagnosis The diagnosis is clinical and based on the history of attacks. The most important step is to rule out any causes that suggest more complicated diagnoses. Therapy Unfortunately, there is currently no cure for migraine. Treatment is aimed at easing the symptoms and reducing their incidence. Patients suffering from recurrent migraines should be aware of the specific triggers and avoid them. General steps to manage migraine include staying hydrated, taking paracetamol, NSAIDs or aspirin, and combinations including caffeine. In severe cases, migraine-specific agents such as triptans or ergotamine can be prescribed (never in the combination of these two). Prevention General prevention starts with identifying and subsequently avoiding triggers. Lifestyle modification , a healthy diet, moderate exercise, and a regular sleep schedule are essential to help patients suffering from recurrent migraines. Acupuncture is rising in popularity as a way to treat medication-resistant migraines. A migraine diary can help identify triggers and medication which led to an attack by logging and describing each episode. Prognosis Migraine itself is a chronic disorder with a highly variable long-term prognosis. In many, it may have a very benign prognosis. In some, it persists and may be associated with a small increased risk of ischemic stroke and mental health problems. Recommendations If you experience an intense, unilateral, and pounding headache lasting less than 24h, consider visiting a doctor. Improve your health by avoiding triggers and managing stressful situations if you are predisposed to migraines.

### Macromo Product Strategy

- URL: https://macromo.com/blog/news/macromo-product-strategy
- Published: 2023-11-02
- Category: news
- Author: Macromo Team

The purpose of Macromo is to enable people to live a life worth living - a life without diseases. Because when sickness strikes, it becomes hard to save energy to devote to activities that fulfill you in your daily life. We started with tests to uncover your inherited genetic predispositions (Macromo DNA) and tests for the most important biomarkers of the current state of your health (Macromo Blood). However, some of you might not be aware that we are building a first-of-its-kind system which connects all of your health data to form the most accurate health recommendations that are truly personal to you. ‍ To make this happen we need to give people ownership of their health, which is almost impossible in the current landscape of multiple apps and providers that offer incomplete recommendations and services. That is why the Macromo mobile application is designed to help people understand their health risks and learn the steps they can take to prevent them. This is achieved by linking multiple health factors, and assessing how they contribute to a certain disease. Therefore, you can focus on improving your lifestyle and habits that make the biggest difference. ‍ ‍ Why is it essential to link health data? Diseases are caused by various factors, like genetics, lifestyle, and environment - and each has a different significance. To get a full picture of a health risk it’s important to take into account as much information as possible. This is traditionally done by doctors, but it’s getting significantly harder due to recent advancements in medicine, specifically diagnostic methods that produce up to hundreds of gigabytes of data for each patient. For non-medically trained people it’s almost impossible to see patterns in their health data, which leads to frequent self-misdiagnosis and health anxiety. ‍ ‍ Why should people take ownership of their health? Civilizational diseases, such as type 2 diabetes, cardiovascular diseases, and certain types of cancers, develop in decades, not months. The current health system is optimized to catch and treat cases mostly in advanced stages. Usually, it happens when the condition already starts to compromise the patient’s quality of life. However, most of these diseases can be predicted long before the first symptoms appear. Long-term tracking of your health is the only way to effectively predict and prevent such diseases. ‍ Prevention-based Healthcare System Phase 01 – Give people ownership of their health. We are currently developing an ecosystem for end-customers, which includes all the tools people need to manage their health, including at-home tests, supplements, and a mobile application that provides personalized health advice and safe health data storage. We are planning to reinvest all the profits into the research and development of our systems for even more accurate predictions. ‍ Phase 02 – Help doctors make better-informed decisions. Once our system can reliably track a large number of health factors and diseases, we will develop a platform that prioritizes data for medical professionals. It will enable doctors to spend more time communicating with patients, instead of trying to navigate large quantities of data. The Macromo platform is going to significantly reduce healthcare costs by eliminating the risk of overlooking important data and improving the accuracy of early detection and diagnosis. ‍ Phase 03 – Assess clinical state and determine a diagnosis for patients. The Macromo platform will suggest diagnoses and the next steps to take (like additional tests or screenings). In the beginning, this is going to be supervised by doctors, but later we can expect full autonomy. It will democratize access to healthcare in developing countries, significantly reduce healthcare costs, and will have the capacity to save lives. ‍ Health is the most important thing we have, as without good health, we cannot enjoy many things that life has to offer. The current healthcare system is changing, with a greater focus on prevention, and Macromo is bringing this change and novel laboratory methods to regular people’s lives. We are working to ensure that everyone has access to advanced healthcare from the comfort of their own homes - and we strongly believe that everybody has the right to live a healthy, long, and happy life.

### Working responsibly and safely not only with genetic results

- URL: https://macromo.com/blog/news/working-responsibly-and-safely-not-only-with-genetic-results
- Published: 2023-10-31
- Category: news
- Author: Macromo Team

Cutting-edge technologies in medicine have the potential to help in almost every aspect of human health. They can make prevention more effective, diagnosis more accurate or treatment more optimal. "As the amount of health data grows, so does the need to handle it carefully and responsibly. Our goal is to help physicians make more informed decisions and individuals understand their health." Petr Stepanek Co-CEO, author of the Macromo idea Communicating risk with caution and discretion Our goal is to raise awareness among the general public about prevention and a proactive approach to improving health. But not at the risk of causing harm to the psychological health of our clients. We are a leader in the growing trend of processing ever-increasing amounts of health data. We never quantify genetic results that are intended for users of our mobile app, as this could lead to significant misinterpretation, especially when trying to communicate detailed statistical principles to the general public. We discuss all results with geneticists and physicians. We aim to show people that genetics is not everything. On the contrary, there are actually many more factors that determine our health. Our vision is therefore to link health data to offer a holistic view. We show preventable diseases We provide information regarding the risks of diseases that are worth knowing about in advance, given their preventability, to both users of our app and doctors nowadays. We do not deal with risks that cannot be prevented or treated, as we believe that their communication and treatment belongs in the hands of an experienced physician or geneticist. At the same time, it should be noted that such diseases are already very well captured by our current healthcare system. Our aim is to improve the prevention of these diseases, which are often dealt with only after they have developed into serious problems. ‍ We help doctors to make more informed decisions As the number of examination methods, smart devices and laboratory tests grows, so does the amount of data a doctor can consider in their decision-making. We believe that the availability of more data increases the chances of early diagnosis and effective treatment, but it also makes the decision-making process much more challenging for doctors as there are more factors to work with. Our system deterministically evaluates large-scale health data from advanced methods such as whole-genome sequencing and presents it to physicians in a processable form. ‍ Medicine should be more precise and targeted Medicine should not adhere to the adage that there is no such thing as a healthy person, only an under-screened person. We do not seek to encourage the unjustified prescription of drugs or tests without deeper meaning or suspicion. On the contrary, we approach human health information analytically so that we can help physicians make more informed decisions that are complementary to current medical practice processes. We analyze health history combined with genetic risks, blood test results over time, and based on this we can recommend further preventive steps for both the app user and the collaborating physicians to whom we provide detailed recommendations. ‍ We promote a responsible approach to genetic testing The number of players in the market providing genetic testing to end customers has grown significantly over the past few years. On the positive side, the overall awareness of the application of this modern method in practice is rising, but on the negative side, there is little control over the quality of the results delivered. Macromo is countering the efforts to regulate this sector in the European market by voluntarily seeking to become the only solution of its kind to be registered as a medical device under the EU MDR regulation so far. ‍ Our approach to science and technology Our methodology is based on rigorous, uncontroversial studies from many independent authors. As a result, our results maintain objectivity and transparency. In addition, we use laboratory technologies with quality levels that meet diagnostic standards. Our approach, while technologically advanced, is firmly rooted in basic scientific principles and best practices. ‍ We handle data securely within the EU We cooperate with the Czech laboratory SPADIA and the German laboratory Eurofins Genomics. All data is stored in a secure repository in the EU and is never linked to the identity of the test subject, which is pseudonymised in our system. ‍ The future is here, it's just not evenly distributed We bring the latest methods from the lab and research into practice to benefit ordinary people, doctors and their patients. With our solutions, we are prolonging people's active health, making an otherwise nearly dysfunctional prevention system work, and making the world a happier place. ‍

### Here is why I gifted Macromo test to my husband

- URL: https://macromo.com/blog/news/here-is-why-i-gifted-macromo-test-to-my-husband
- Published: 2023-10-25
- Category: news
- Author: Macromo Team

As a wife and mother, I'm always on the lookout for thoughtful gifts that can make a difference in our lives. Little did I know that a simple gift, a Macromo DNA test, would prove to be a game-changer for my husband. You see, my husband has always been the epitome of health and vitality. He is an active man who feels invincible and rarely pays a visit to doctors. However, there's always been a shadow of concern due to his family history. This genetic test was my way of gently nudging him to take charge of his health. His results were a revelation that neither of us expected. The DNA test revealed a high risk for some of the diseases we suspected ran in his family and even some we had no idea about. As fate would have it, around the same time we received these results, an insurance company prompted my husband that he is eligible for some in depth health screening. I was never able to convince him to go to these preventative health checks but thanks to the DNA results I was suprised to see that he naturally got more interested in his health and made an appointment with a physician. Armed with the Macromo app and his genetic data, he met with a doctor who reviewed the results and offered guidance on maintaining a healthier lifestyle. His doctor took the results seriously and promptly issued referrals for all the necessary examinations, which my husband underwent and excitedly reported that he was all good and healthy. The doctor's advice, combined with the DNA test results, motivated him to make positive changes in his life. This transformation had a ripple effect, inspiring our entire family to pay more attention to our health. I am a strong believer in prevention and I am so happy I was able to convince my husband to start taking care of his health proactively. This DNA test had proven to be more than just a gift; it was a catalyst for a healthier, more connected family.

### Brugada Syndrome

- URL: https://macromo.com/blog/diseases-risks/brugada-syndrome
- Published: 2023-10-04
- Category: diseases-risks
- Author: Hana Voberkova

Observed genes Polygenic score Influential genes: SCN5A,SCN10A,ZFPM2,NCOA7,WT1-AS Mutations in the SCN5A gene are the most common cause of Brugada syndrome. Variants in the SCN10A gene have also been linked to Brugada syndrome, although it is a less common cause compared to SCN5A mutations. ZFPM2 encodes a transcription factor involved in heart development, and mutations in this gene are related to Brugada syndrome. Overview Brugada syndrome is a rare condition associated with specific ECG changes and a high risk of life-threatening cardiac arrhythmias. The Brugada brothers were the first to describe the syndrome in 1992 and since then the number of clinically diagnosed cases has grown rapidly. (8) However, the disease has been already known even before - in the Philippines as bangungut (to rise and moan in sleep), in Japan as pokkuri (sudden and unexpectedly ceased phenomena), and in Thailand as Lai Tai (death during sleep). (8) The recurrent theme of nocturnal episodes and sudden deaths in sleep is an accurate reflection of one of the common risk factors that can trigger clinical manifestations of the disease - the imbalance of the autonomic (sympathetic and parasympathetic) tone that can occur at rest, after a heavy meal or while a person is asleep. All these situations are associated with periods of higher parasympathetic and vagus nerve activity. (6, 7) The syndrome is an example of channelopathy, a disease characterized by a change in the flow of ions through the cell membrane. In the heart, this movement of particles (electrically charged particles of sodium, calcium, potassium, and chloride) through ion channels generates the cardiac action potential - an electrical signal, which propagates through the cells to induce a contraction of the heart - and is, therefore, the cornerstone of the heart’s electrical activity. The exact mechanisms that cause ECG changes and increase the risk of abnormal heart rhythms in Brugada syndrome are disputed and the subject of ongoing studies, however, most of them are thought to be accounted for by specific changes in sodium channels. In recent years, mutations in calcium and potassium channels and associated proteins have also been linked to the disease. (1, 3, 6, 8) Although the changes to the ECG might be present in an asymptomatic patient, they usually correspond to a high risk of cardiac arrhythmias, which include life-threatening ventricular tachycardia and ventricular fibrillation. The syndrome can also cause other arrhythmias such as conduction delay in the ventricles, atrial fibrillation, or atrioventricular block. (1, 12) In a normal heart rhythm, electrical signals pass through the heart muscle at regular intervals. In fibrillation, the impulses propagate rapidly in a disorderly manner without any regularity. The consequence is that the relevant cardiac compartments lose their ability to pump blood effectively. Ventricular tachycardia (VT) is a rapid heart rate emanating from the lower chambers of the heart. Longer periods are particularly dangerous as they can easily progress to ventricular fibrillation and cardiac arrest. Fig 1: Ventricular tachycardia | Mayo Clinic Ventricular fibrillation (VF) causes the ventricles to merely quiver instead of contracting, the heart is unable to pump blood at all, and cardiac arrest occurs. Fig 2: Ventricular fibrillation | Mayo Clinic Atrial fibrillation (AFib) causes an irregular, very rapid heart rhythm because the chaotic impulses from the atria are also transmitted with absolute irregularity (although at a lower frequency) to the ventricles. Fig 3: Atrial fibrillation | Mayo Clinic Prevalence & Risk factors The estimated worldwide prevalence of the disease is 1:2000. (1) However, the prevalence of the disease varies depending on the location. In Thailand, for example, the prevalence is as high as 17.7 per 1000 inhabitants. (12) The average age of those affected is 41 years and the syndrome is more often diagnosed in men. More specifically, men are approximately 8 to 10 times more likely to be diagnosed with the syndrome, although the likelihood of inheriting a mutated gene does not vary depending on the sex of the individual. (1) Thus, it is clear that the penetrance of the mutation (the probability of the gene variant manifesting itself clinically) is higher in males than in females. Brugada syndrome is also more common in people from Southeast Asia. Interestingly, studies also show that people suffering from schizophrenia are more likely to have a Brugada pattern on their ECG than the general population. (1, 3, 6, 9) General risk factors therefore include: Male gender (7) Age (7) Family history of the syndrome or SCD (7) Asian race (7) From what is known, ECG findings as well as clinical symptoms can be intermittent and they can be unmasked or augmented by multiple factors. These include: Ischaemia of the heart (8) Autonomic tone changes (for example in sleep) (7) Fever (7) Cocaine or alcohol intoxication (8) Certain medications, e.g. sodium channel blockers (Flecainide, Propafenone), calcium channel blockers, alpha agonists, beta-blockers, nitrates, cholinergic stimulants, and heterocyclic antidepressants (8) Potassium levels (both hyper and hypokalemia) (8) Hypothermia (8) Cardioversion (8) Genetics For many years, the syndrome was considered to be monogenic (determined by a single gene) with an autosomal dominant inheritance pattern (only one allele is enough to cause the disease). Nowadays, research suggests that the syndrome is of heterogeneous nature. The very first gene associated with this syndrome was the SCN5A gene, which encodes for sodium channels in the heart. Changes affecting this gene are found in between 15-30% of cases, although the clinical manifestations vary in each person. (3, 12) More than 300 mutations have been found in the SCN5A gene, each affecting its function in a different way, which may explain why this syndrome is benign in some people and life-threatening in others. (11) In the last two decades, more than 20 additional genes (potentially causative) have been identified, most of them encoding sodium, potassium, and calcium channels or the associated proteins. (12) Overall, it is estimated that only 30–35% of patients can be genetically diagnosed, leaving 65–70% of patients undiscovered. (13) That’s the reason why, here in Macromo, polygenic risk scores are used to determine genetic risk. The polygenic risk score (PRS) is an estimate of the probability that an individual carries a given trait based on genetics, without considering environmental factors. Variants across their genome are summed and weighted according to their effect on the disease or trait. Signs & Symptoms Brugada syndrome usually first manifests in the third and fourth decades of life. Nonetheless, approximately 63% of patients have no symptoms apart from specific ECG findings at the time of diagnosis. Others may develop some of the following signs: Dizziness (7) Loss of consciousness (syncope) (4) Gasping or strenuous breathing, especially at night (7) Palpitations (7) Seizures (7) Sudden cardiac arrest (4) Syncope or episodes of arrhythmia can occur at any age. Moreover, SCD may even represent the first symptom of the disease for some. Unfortunately, this also applies to children, where an association between Brugada syndrome and sudden infant death or SCD in children has been proven. (12) Diagnosis The diagnosis of Brugada syndrome is most often made after a person faints and seeks medical attention or survives a cardiac arrest. In some individuals, the diagnosis can be incidental during a routine medical examination because of the presence of specific ECG findings and the relevant family history of SCD or Brugada ECG patterns. However, both the pattern and clinical symptoms are needed to form a diagnosis. Without the presence of a typical pattern on the ECG, ventricular arrhythmias cannot be classified as Brugada syndrome. And correspondingly, even a characteristic pattern without clinical symptoms cannot be considered a Brugada syndrome, but only a Brugada pattern. (4) To diagnose Brugada syndrome, several tests and methods may be used: Family and personal clinical history of cardiac diseases Physical examination ECG Stress testing (using specific medications) Echocardiogram Genetic testing Electrophysiology test (using a catheter to map out irregular heartbeats) Therapy The main goal of treatment is to reduce the risk of sudden death due to ventricular arrhythmias. The treatment depends on the risk of developing said arrhythmia because, for some, the syndrome can remain a benign condition. High-risk patients have: Personal history of ventricular arrhythmia (7) History of unexplained syncope (7) History of sudden cardiac arrest (7) Prevention Due to the heritability of the disease, it is always important to perform genetic testing on close relatives of patients with Brugada syndrome, as it is the best way to prevent the life-threatening events associated with genetic mutations. Once a person has been diagnosed with Brugada syndrome, it is important that they see their doctor regularly and follow their doctor's recommendations depending on their risk of heart arrhythmia. (7) Prognosis Studies show that the most important prognostic risk factor is a history of ventricular tachyarrhythmia leading to sudden cardiac arrest or syncope. Other less important factors include atrial fibrillation, male gender, and family history of SCA. (5) Sadly, Brugada syndrome remains a notable cause of death, especially in men under 40 years of Southeast Asian descent. It is estimated that 4% of all sudden deaths (and at least 12-20% of sudden deaths in patients with structurally normal hearts) are due to this syndrome. The mean age of sudden death in patients with this syndrome is 41 ± 15 years. (1, 10) Recommendations If you experience any of these symptoms, consult your doctor to see if Brugada syndrome or another heart problem is causing the symptoms. If you experience an unexplained loss of consciousness, always seek medical attention. If your immediate family has been diagnosed with Brugada syndrome, arrange to get tested to rule out an increased risk of malignant arrhythmias.

### Abdominal Aortic Aneurysm

- URL: https://macromo.com/blog/diseases-risks/abdominal-aortic-aneurysm
- Published: 2023-10-04
- Category: diseases-risks
- Author: Benjamin Spanyi

Observed genes Polygenic score Influential genes: CDKN2B-AS1,GPHN,SYT1,CSMD1,RARB The gene CDKN2B has been associated with the development of Abdominal Aortic Aneurysm. Overview The abdominal aorta is the major artery of the lower body, delivering blood to the abdomen, pelvis, and lower limbs. An abdominal aortic aneurysm (also known as AAA) is a disease, in which there is a permanent, irreversible dilatation (bulging out) of the aorta. Prevalence and Risk Factors AAA is most common in males above 65 years of age. The number of affected people rises with age. Screening studies have shown that the prevalence of AAA is between 4% and 8% in the general population.[1] Abdominal aortic aneurysm and its complications are unfortunately also a quite common cause of death in persons >55 years – 12-15th leading cause in the USA,[2] the UK, and multiple European countries, in fact. Nevertheless, age is not the only factor that contributes to the development of an AAA and others can be positively influenced. It has been shown that smoking significantly increases the risk, and therefore smoking cessation effectively reduces the risk of developing an AAA. Other important factors are the presence of the disease in close relatives and other potential cardiovascular diseases of the patient – especially uncontrolled hypertension, which in turn can usually be managed well by your general practitioner and living a healthier lifestyle. Genetics Abdominal aortic aneurysm is associated with genetic diseases of the connective tissue. Twin studies suggest that heritability can be as high as 70%. Furthermore, a positive family history is considered higher the risk of developing the disease by twofold.[7] The inheritance pattern has been the target of research in the last years. The deeper knowledge of the genetic background of abdominal aneurysm would have a major impact on early diagnosis and monitoring. However, further research is needed, as this condition is characterized by heterogeneous mutations.[8] Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs and symptoms Unless ruptured, an abdominal aortic aneurysm usually does not cause any major symptoms. It is often diagnosed as a part of a screening program, or incidentally on a routine physical exam. When an AAA ruptures, however, it is a life-threatening emergency. Larger aneurysms have a greater chance of an eventual rupture (>5,5 cm diameter), as well as causing symptoms prior to the rupture. It should be noted that the risk of rupture of an aneurysm measuring less than 4 cm is estimated to be close to 0 %.[3] AAA can in general present with a pulsating bulge on the abdomen, hypotension and abdominal/flank pain. Sometimes, a blood clot originating from the dilatation may prevent blood flow to a limb, resulting in a pale, painful leg that is cool to the touch. Diagnosis To diagnose a patient with an abdominal aortic aneurysm, imaging technologies are used, based on preliminary findings of a physical examination. The imaging test of choice in asymptomatic AAA is ultrasound, whereas, in symptomatic AAA, computed tomography (CT) scan is preferred. A screening ultrasound test is usually recommended for males above >65 with a history of smoking, as well as for males and females >60 who have a family history of AAA. Therapy There are two methods of repairing an aortic aneurysm – open abdominal, and endovascular, which are similar in long-term outcomes. The choice between these two is made based on the patient’s anatomy, individual risk factors, and personal preference. Prevention As smoking has been associated with an increased risk of AAA, smoking cessation is strongly recommended as a method of prevention . The risk decreases upon smoking cessation gradually over a number of years and ultimately leads to a more than halved risk in comparison to current smokers.[4] Additionally routine screening is recommended for men over the age of 60, although this varies by country. Should an unruptured aneurysm be detected, surgical repair is successful in more than 95 % of the cases.[5] Prognosis Without treatment, a ruptured abdominal aneurysm is almost always fatal. Studies show that only about 50% of people with ruptured AAAs reach the hospital.[6] The goal of the therapy is thus to detect and repair the aneurysm before it ruptures. This is done as an elective surgical procedure, based on the patient’s risk profile. The procedure is recommended by the physician, based on the size of the aneurysm and other factors. Recommendations Early ultrasound imaging test is crucial in discovering Abdominal Aortic Aneurysm Visit your health practitioner if your genetic predisposition is high If you observe a pulsating bulge on your abdomen, along with a strong abdominal/back/flank pain, contact your physician Smoking cessation is very important as a preventative measure

### Type 2 Diabetes mellitus

- URL: https://macromo.com/blog/diseases-risks/type-2-diabetes-mellitus
- Published: 2023-10-04
- Category: diseases-risks
- Author: Anna Fiserova

Observed genes Polygenic score Influential genes: TCF7L2,CDKAL1,IGF2BP2 TCF7L2 stands out as the most potent gene when it comes to the risk of developing type 2 diabetes. Studies have found that the CDKAL1 gene is linked with both the development of diabetes and the complications that can arise from the disease. The IGF2BP2 gene produces a protein involved in the stimulation of insulin action, a vital process in glucose metabolism​. Overview Diabetes mellitus (DM) is a chronic disease caused by many different mechanisms, with one thing in common – a higher blood sugar level – a condition known as Hyperglycemia. Type 2 is one of the four main group types of diabetes, making up 90-95% of all the cases (the other groups being Type 1 diabetes, Gestational diabetes mellitus, and specific types of diabetes due to other causes). The body tissues aren’t able to utilize glucose as intended due to a buildup of “insulin resistance” (mainly caused by constantly higher glucose levels triggered by stress or its excessive intake in diet). Additionally, the pancreas can’t cover the increased demand for insulin anymore, causing “pancreatic insufficiency” – a relative lack of insulin. Together these 2 processes are the basis for developing Type 2 Diabetes. If left untreated, hyperglycemia can damage the kidneys, nerves, vessels, and eyes, leading to several complications, like, for example, full blindness. Healing processes are impaired, leading to chronic wounds and putting diabetic patients at risk of infections, severely endangering their health. In extreme cases, the defects on limbs can lead to amputations of extremities. Besides the direct effects of diabetes, it’s also an established risk factor for coronary heart disease and ischemic stroke, especially in combination with other health conditions (such as impaired blood lipid levels, obesity, and hypertension). Prevalence and risk factors Over the last 30 years there has been a huge growth of cases globally, developed regions having even faster growth rate, mainly caused by the lifestyle of modern society. Nowadays, we face a prevalence rate of 9.3 % in adults (equivalent to 463 million people) [5] , which is projected to continue rising. Between 2000 and 2016, the premature mortality rates from diabetes (meaning before the age of 70) increased by 5%. The main risk factors, such as an unhealthy diet full of fats and prefabricated sugars, combined with smoking and little physical activity, are often seen even in younger generations. Genetics Type 2 diabetes (T2D) is a complex disease influenced by both genetic and environmental factors, making it a multifactorial disease. While lifestyle choices play an important role in its development, certain genetic variations can also increase the risk of developing T2D. However, the presence of these genetic variations does not guarantee the development of T2D. Genome-wide association studies have contributed to the discovery of genetic variants associated with susceptibility to T2D. Key genes involved in β-cell function, insulin secretion, insulin resistance, and glucose homeostasis have emerged as critical contributors to the development of T2D. The discovery of the underlying biological pathways involved in the development of the condition opens up opportunities for targeted therapeutic intervention. [6,7] T2D is heterogeneous in nature, as both common single nucleotide polymorphisms (SNPs) with small effects and rare variants with large effects have been identified. In addition, research is now extending to non-coding elements (e.g. enhancers) that may potentially contribute to the development of T2D. [8,9] Understanding the genetic basis of T2D is essential for the development of personalized treatment and prevention strategies. Genetic testing allows us to detect whether you have the predisposition to develop this condition. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Symptoms Diabetes evolves very slowly; it can take many years for the patient to notice that something is wrong. First symptoms are usually nonspecific, such as fatigue or higher susceptibility to infections (parodontitis, urinary tract infections…). Typical patients complain of increased thirst (polydipsia) and frequent urination (polyuria), extreme hunger, and frequent infections. Chronic complications can be already present by the time of diagnosis with years of uncontrolled diabetes. Disease detection / screening / diagnosis Blood glucose monitoring is crucial for the diagnosis of Type 2 Diabetes mellitus. Diagnostic blood screening should be a part of every preventive checkup – diabetes is often detected unexpectedly as a part of other examinations. Venous blood should be analyzed for diagnostic purposes, but capillary blood obtained superficially also plays an important role in monitoring glycemia (concentration of glucose in the blood). The main diagnostic tests consist of fasting plasma glucose, glycated hemoglobin, and OGTT. Fasting plasma glucose - normal blood glucose levels are in a range of 3,9 – 5,6 mmol/l. Fasting glucose levels over 7 mmol/l are considered diabetes. The state between 5,6-7 mmol/l is named prediabetes. Glycemia over 11 mmol/l in any state is always considered diabetes. OGTT (oral glucose tolerance test) - if the diagnosis can’t be made based on fasting glucose levels, an oral glucose tolerance test is performed. Glycated hemoglobin (A1C) indicates average blood sugar level for the past two or three months and is therefore very useful in monitoring the effectiveness of the treatment. Therapy Having diabetes doesn’t necessarily mean that the patient must inject insulin, as often thought by many people. The first step is reviewing the patient's lifestyle, including diet and physical activity. If you can’t maintain the desired blood sugar level only with lifestyle changes, it may be necessary to prescribe peroral antidiabetics. Overall, Metformin is used the most (based on lowered glucose production by the liver and increased sensitivity of tissues), but there are many groups based on different principles that can help lower glycemia. If all those steps fail, insulin may be prescribed. The insulin type, dosage, and usage scheme vary for each patient and should be determined by a specialist. Prevention Healthy lifestyle is important in both the prevention and treatment of Type 2 Diabetes. As already mentioned above – eliminating prefabricated sugar, simple carbs, and unhealthy fats (mainly trans-fat and saturated fat), weight loss, regular physical activity among many other factors – all these lifestyle changes can prevent the disease. Prognosis Diabetes is a complex disease with many variables and possible complications; it is almost impossible to estimate the exact risk for a specific patient. Prognosis is based on the succession of the treatment – it is believed that people with sufficient treatment and lifestyle changes may live as long as healthy patients. Recommendations Follow a regular, balanced & healthy diet Eliminate prefabricated sugars and unhealthy fats (mainly trans-fat and saturated fat) Manage you weight Maintain a regular physical activity Visit your GP for routine check-ups regulary

### Kidney Stones

- URL: https://macromo.com/blog/diseases-risks/kidney-stones
- Published: 2023-10-04
- Category: diseases-risks
- Author: Anna Fiserova

Observed genes Polygenic score Influential genes: ALPL,SLC22A2,RGS14 Variants in the ALPL gene can potentially affect the body's metabolism of phosphate-containing compounds and contribute to the development of kidney stones. The gene SLC22A2 encodes a protein involved in the transport of organic ions in the kidneys. Variations in this gene could potentially impact kidney function, which might also influence the risk of kidney stones. A study conducted on the Chinese Han population found that genetic polymorphisms in the RGS14 gene were significantly associated with renal stone disease (RSD). Overview Kidney stones are hard deposits made from minerals and salts in the urine that can cause an obstruction of the kidney as well as any other part of the urinary system. Usually, there are many waste products dissolved in the urine, but if the amount increases above the physiological value, due to many reasons (such as diet, not drinking enough water, excessive body weight, certain medical conditions, or medications), crystals begin to form. The formation is facilitated by states of dehydration. Most of those crystals get excreted via the urinary system and don't cause any problems, but they can form bigger structures over time. The passage of those stones begins to be problematic and patients can experience severe pain, often described as the worst pain one can feel. The chance of a 1 cm stone passing is around 10% and stones over 1 cm usually don't pass at all. If the passage isn't possible anymore, the stones can obstruct any part of the urinary system and restrict urine elimination, which can lead to the development of infections and other complications. When the excretion of the stones isn't possible naturally, even with medical help, intervention is inevitable. Prevalence & Risk factors Kidney stones are a very common health condition affecting almost 15% of the world's population and the numbers continue to increase. It's estimated that half of the patients dealing with kidney stones will experience them again in the next 5 years. [1] There are many risk factors for the development of the disease: Dehydration (caused by insufficient water income or excessive sweating) is the number one cause of kidney stones. Obesity Quick weight loss Diet high in salt, proteins, and sugar Age - kidney stones can develop at any age, but the most affected group are people between the ages of 40 to 65. [2] Sex - the prevalence of kidney stones is twice as high in males in comparison with females. Certain medical conditions - diabetes mellitus, gout, or inflammatory bowel disease Urinary tract infections Medications and supplements - vitamin D supplements, loop diuretics, some antacids Genetics Research into the causes of kidney stones has looked at both individual genetic factors and a combination of genetic influences. These factors involve different conditions and pathways that together contribute to the development of kidney stones. Some of these contributors include conditions like hypocitraturia and hypomagnesemia, as well as primary hyperoxaluria. [3,4] While the study of single genetic variants has faced some challenges, scientists have found connections between over 30 genes and kidney stones. However, it's important to understand that these genetic changes are only confirmed in about 15% of cases. This suggests that most cases are influenced by a combination of multiple genes, rather than just one. [5] Genetic testing gives us the opportunity to discover whether you have a predisposition to developing this disease. At Macromo, we use polygenic risk scores and causative evidence-based genetic variants foe evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms As kidney stones increase in size, patients begin to notice symptoms with different severity. Severe sharp and cramping pain in the area of the lower back and side - when the stones cause irritation or obstruction, patients experience rapidly increasing severe pain. The pain starts suddenly, comes in waves, and often moves from the back to the groin. It's often described as one of the worst pains ever experienced. Nausea, vomiting Blood in the urine Fever Atypical look and smell of the urine Diagnosis Diagnosis of kidney stones starts with a medical history and physical examination. It's necessary to settle the size and location of the stones, therefore imaging methods are indicated. The main method used for diagnosis is a CT scan. After gathering information about the stone, it's important to assess patients' general health. Blood tests are indicated to evaluate the state of the kidneys and to find the possible underlying cause (such as elevated lipid levels or medical conditions). Therapy The goal of kidney stones therapy is to allow the passing of the stones without surgery. Patients are instructed to drink high amounts of water and adhere to recommended treatment in managing pain and nausea. It is possible to prescribe ureter relaxing medicines, most commonly tamsulosin (sold as Flomax). If the stones are too big and cause a blockage or infection, intervention is unfortunately inevitable. There are many approaches, including invasive and non-invasive methods: Non-invasive Shock-wave lithotripsy - high-energy waves are used to break kidney stones into smaller pieces that can pass naturally. Minimally invasive Ureteroscopy - kidney stones are retrieved or broken into smaller pieces by a small instrument inserted into the ureter through the urethra and urinary bladder. Percutaneous nephrolithotomy/nephrolithotripsy - surgeons approach the kidney directly through a small incision in the patient's back. Invasive Open stone surgery - performed in less than 1% of the cases It's important to assess any known health condition and adhere to its treatment to prevent recurrence of the kidney stones. Prevention There are plenty of factors increasing the risk of developing kidney stones, but luckily enough, a lot of them are modifiable. What are the steps that can help you significantly decrease the risk? Drink enough water - drinking enough liquids, especially pure water, is the number one preventive step. Healthy individuals should drink around 2 liters of water per day, with the value changing regarding weather, activity, sweat amount, etc. Patients with kidney failure should consult their doctor about the right amount of water. Diet changes Avoid high sodium foods (cheese, processed foods, bread, canned soups and vegetables, biscuits) and limit salt - high levels of sodium prevent calcium from being reabsorbed from urine to blood and allow calcium stones formation. Avoid foods high in animal proteins (beef, poultry, fish, pork) - those foods are acidic and might increase urine acid. Reduce foods high in oxalate (the main substrate leading to kidney stones formation) - spinach, rhubarb, strawberries, nuts, dried peas, beans Avoid high sugar diet Eat fruits and vegetables - they're containing nutrients that can help prevent the formation of stones (potassium, fiber, magnesium, antioxidants) Manage your weight - obesity may change the acid levels in the urine and lead to stone formation. Prognosis In general, the prognosis of kidney stones is very positive, although there is a high possibility of recurrence. Therefore it's important to assess any possible source of origin and adhere to lifestyle changes and recommended medications. In 80 to 90%, kidney stones pass on their own and no treatment is needed. [6] The surgical approach to the removal of larger kidney stones is in general very successful and the recovery time is very short. If larger stones aren't removed, the urine buildup could lead to infections and subsequent kidney failure. Kidney stones also increase the risk of developing chronic kidney disease. Recommendations Adhere to the treatment if you experience problems with kidney stones. Their probability of coming back is 50%. Ask your doctor before Ibuprofen usage when having a kidney stones attack, it may increase the risk of kidney failure. Try to limit salt usage to the minimum, as high sodium levels increase the probability of kidney stones formation. Avoid foods high in animal proteins. Eat fruits and vegetables. Be physically active.

### Obesity

- URL: https://macromo.com/blog/diseases-risks/obesity
- Published: 2023-09-14
- Category: diseases-risks
- Author: Anna Fiserova

Observed genes Polygenic score Influential genes: FTO,MC4R, BDNF The FTO gene has an established association with obesity. In particular, certain alterations in this gene have been observed to affect fluctuations in body mass index (BMI) and predisposition to obesity. Mutations in the MC4R gene are the most common monogenic cause of severe obesity. The MC4R receptor plays a role in regulating appetite and energy balance. BDNF is involved in the regulation of appetite and food intake. Variants in the BDNF gene have been associated with obesity and increased food consumption. Overview Obesity is an abnormal or excessive fat accumulation in the body that may impair health, caused by the consumption of more calories than being burnt by the basal metabolism, thermic effect of food, and physical activity. It is defined by a BMI of 30 or more and therefore differentiated from overweight covering BMI specter of 25-29,9. Besides obvious physical changes, obesity can have severe impact on human health, including coronary heart disease, type 2 diabetes, stroke, non-alcoholic fatty liver disease potentially leading to liver cirrhosis, obstructive sleep apnea, various fungal infections, fertility problems, or even many types of cancer. The patient’s life comfort is reduced due to breathlessness, increased sweating, snoring, joint and back pain, psychological problems, and many others. The combination with other medical conditions (such as abdominal obesity, insulin resistance, elevated blood pressure, or irregular blood lipid levels) is called “Metabolic syndrome”, significantly increasing a patient’s risk for cardiovascular disease and type 2 diabetes mellitus. Prevalence & Risk factors Due to the modern lifestyle full of stress, unhealthy diets, and insufficient physical activity, the obesity rate worldwide is quickly rising and turning into a pandemic of obesity, which is now recognized as one of the most important public health threats. According to the World Health Organization, more than 650 million adults suffered from obesity in 2016. The worldwide prevalence nearly tripled between 1975 and 2016. The prevalence is also rising among children – in 2016 more than 124 million children and adolescents were obese (6% of girls, 8% of boys). [1] There are many risk factors contributing to the development of obesity – both modifiable and non-modifiable. Alongside well-known risk factors, such as an unhealthy diet and a lack of physical activity, there is stress, mental problems leading to overeating, or sleep deprivation. The environment has a huge impact on a person's lifestyle (low socioeconomic status, easy access to unhealthy fast foods, limited possibilities for physical activity, or a shortage of time due to various reasons). Other diseases, such as hypothyroidism or polycystic ovaries syndrome, also increase the risk. Genetics Obesity is a complex disease influenced by both genetic and environmental factors. Genes play a role in determining susceptibility to obesity, but they are not the only cause. Researchers have already mapped specific genetic pathways and variants associated with obesity. Genome-wide association studies (GWAS) have identified several genetic variants associated with obesity. These genes are involved in appetite regulation, energy metabolism, and fat storage. In particular, the FTO gene has been shown to be strongly associated with obesity. Other genes involved in leptin signaling, insulin signaling, and adipogenesis have also been investigated. [2] In addition, genetic studies, including rare variant analysis, functional genomics, and epigenetics, provide even deeper insights into the mechanisms. For example, rare genetic variants affecting the MC4R gene have been associated with severe obesity phenotypes. Epigenetic modifications, which affect gene expression without altering the DNA sequence, are also being studied as potential drivers of obesity susceptibility. [6,7] Genetic testing allows us to determine if you have a predisposition to develop this disease. At Macromo, we use evidence-based polygenic risk scores and causal genetic variants to assess the genetic risk. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All the variants in his or her entire genome are summed and ranked according to their effect on disease development. Signs & Symptoms Many complications are linked to the most obvious symptom – weight gain. Patients suffer from difficulty breathing while sleeping (also known as sleep apnea), back and/or joint pain, problems with thermoregulation, infections in skin folds, depression, shortness of breath, or excessive sweating. The specter of complications is broad and it's important to realize how many conditions can be influenced by our weight. Diagnosis The most basic tool for diagnosing obesity, supported by a thorough history of the patient's lifestyle, is the calculation of BMI. This is a very simple formula using the patient's weight and height. BMI = weight (kg) / [height (m)] 2 BMI is interpreted using standard categories, valid for adults over 20. [3] It’s important to realize that BMI is highly influenced by the weight of the individual, not considering muscles being heavier than fat. Therefore, it’s optimal to use additive diagnostics methods. The waist circumference is used in diagnostics of abdominal obesity (a condition with excessive buildup of abdominal fat, that is highly dangerous due to its hormonal activity), the values for substantially increased risk are defined as ≥88 cm for women and ≥102 cm for men. It’s also possible to assess the risk using the waist-to-hip ratio (=waist circumference/hip circumference). Values defining obesity are >0,85 for women and >0,9 for men. [5] For a general measure of body fat percentage, it’s possible to use a device called a caliper, to measure differently located skinfolds in millimeters. Bioimpedance measurements (using an electric current to determine the body's fat content) or a dual-energy X-ray absorptiometry (DEXA) scan can give you even more detailed information about your body's composition. Therapy The best way to treat obesity is to introduce changes to your lifestyle such as a balanced diet and regular exercise. Finding a nutritional specialist can be very beneficial in forming the right diet. If lifestyle changes alone aren’t sufficient, a doctor can in extreme cases indicate few pharmacotherapy possibilities such as: · Inhibitors of pancreatic lipase (Orlistat) - decreases the lipid absorption in the gastrointestinal tract · Anorectics (phentermine – Adipex retard, bupropion/naltrexone – Mysimba) - influences food intake centrum in the brain and reduces appetite · GLP – 1 analog (liraglutide – Saxenda) – increases the secretion of insulin, slows gastric emptying, and reduces food intake As a last resort, indicated only for people with BMI ≥ 35 kg/m2 AND comorbidities (such as diabetes or metabolic syndrome), or ≥ 40 kg/m2 without comorbidities, bariatric surgery can be performed. It’s a weight-loss surgery with the 3 most common types being: · Gastric band – reduces stomach size, making the patient feel full sooner (the only reversible surgery) · Gastric bypass – connecting the upper part of the stomach directly with the small intestine, decreasing the calories income from digested food · Sleeve gastrectomy – separating a part of the stomach, which can’t hold as much food (https://drjasmeetahluwalia.com/weight-loss-surgury-in-abohar/) All forms of bariatric surgery are major procedures and pose serious risks. For the long-term effect of the surgery, it’s important to maintain lifestyle changes. Prevention The positive aspect of obesity is that most of the causes are modifiable and lifestyle changes can dramatically lower the risks for overweight and obesity. There are a few basic rules when it comes to eating habits – you should eat only as many calories as you use, avoid saturated and trans fats, and foods high in added sugars. Substituting simple carbs with complex carbs and eradicating prefabricated sugars can greatly improve your health. All those principles combined with any physical activity can already significantly stabilize a patient's weight and prevent the development of obesity and its related complications. Prognosis Obesity is without doubt linked to a high risk of all-cause mortality. Some studies have concluded a phenomenon called “the obesity paradox” – a state in which patients with higher BMIs can be protected from a few health conditions. However, these studies haven’t taken into account body mass type and body fat distribution. It’s important to look at obesity as a whole and use various diagnostics methods as already mentioned above. If the patient manages to stabilize their weight and total body fat, and increases their physical activity level, the prognosis is favorable. If left untreated, obesity brings a lot of health risks that can have a fatal impact resulting in heart attack, liver cirrhosis and liver failure, obstructive sleep apnea, and general infections. Recommendations Avoid saturated and trans fats. Avoid foods high in added sugars Replace simple carbohydrates with complex carbohydrates Cook fresh food without processed foods Exercise regularly, for at least 30 minutes 3 times a week

### Non-Alcoholic Fatty Liver Disease

- URL: https://macromo.com/blog/diseases-risks/non-alcoholic-fatty-liver-disease
- Published: 2023-09-14
- Category: diseases-risks
- Author: Anna Fiserova

Observed genes Polygenic score Influential genes: PNPLA3,GCKR Several studies have shown an association between the PNPLA3 gene and NAFLD. GCKR regulates glucose metabolism, and its polymorphisms are associated with changes in serum triglyceride and glucose levels, which are risk factors for NAFLD. Overview Non-alcoholic fatty liver disease (NAFLD) is an excessive fat build-up in the liver that can lead to irreversible liver tissue destruction. Worldwide, it’s the most common cause of liver enzyme elevation diagnosed in patients without heavy alcohol abuse (defined as a daily income of over 20g of clear alcohol). Fat presence in the liver is physiological up to an amount of 5%, anything over is described as liver steatosis. NAFLD progresses from the above-mentioned liver steatosis (“only” fat present in the liver) to an inflammatory state (also known as non-alcoholic steatohepatitis – NASH) that can potentially lead to a replacement of normal liver tissue with scar tissue (fibrosis), which results in irreversible liver damage (cirrhosis). Cirrhosis drastically increases the risk for the development of hepatocellular carcinoma. (https://www.researchgate.net/profile/Nwe-Than-2/publication/292628946/figure/fig1/AS:324620109533184@1454406873556/Clinical-progression-of-non-alcoholic-fatty-liver-disease.png) Prevalence & Risk factors NAFLD is rapidly becoming the most common cause of chronic liver disease in western countries due to a continuous rise in the prevalence of obesity. The modern lifestyle brings a lot of challenges with it, especially when it comes to making time for a regular and balanced diet, physical activity, and lowering the stress levels in our body. The world obesity rate is quickly rising and with it, its complications – including non-alcoholic fatty liver disease. The risk also increases for people with already persisting medical conditions, such as high blood pressure, metabolic syndrome, or diabetes mellitus type 2. The prevalence differs around the globe, depending on the regional lifestyles and access to resources. The Highest prevalence was reported in American countries at 30%, whereas studies from Africa (although only limited resources are available) report a prevalence of 13%. Globally, we’re facing a prevalence of 25% in the world’s population, although it varies significantly based on your geographical location. [1] Genetics Non-alcoholic fatty liver disease (NAFLD) is a complex and multifactorial disease influenced by both genetics and environment. Due to its nature, not all people at risk will develop the disease, and the severity can also vary. The genetic background of NAFLD has been the focus of research in the past 10 years, specifically the impact of single nucleotide polymorphisms (SNPs). Multiple approaches were included, e.g. candidate gene association studies, genome-wide association studies (GWAS), and exome-wide association studies (EWAS). According to the results, the heritability component is estimated to be between 20 and 70%. Of course, it depends on the design of the study, the ethnicity, or the technologies used. The rs738409 variant, the G allele in the PNPLA3 gene, is strongly associated with higher levels of liver fat across all ethnicities. In carriers of the homozygous GG genotype, liver fat levels are 73% higher compared to the CC genotype. The severity and progression of NAFLD is also higher in carriers of the GG genotype. Genes affecting inflammation and immune responses are known to play a role in susceptibility to NAFLD. Furthermore, many research groups have focused on identifying other susceptibility genes throughout the genome and this has led to the description of several candidate genes such as FDFT1, PPP1R3B, ERLIN1, TM6SF2, SAMM50, APCO3 [2-4] . Genetic testing allows us to detect whether you have the predisposition to develop this disease and therefore directs us to take steps toward prevention, monitoring, and possible treatment options. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms NAFLD stays silent for a very long time and the first symptoms are often exhibited in the later stages of the disease. Sometimes, even in the earlier stages, patients report abdominal pain or fatigue, and it may be possible to detect increased liver enzymes in routine blood tests. When the body can't control the inflammatory processes anymore and worse states of damage develop, patients can experience fatigue, weakness, loss of appetite, weight loss, or yellowing of the skin and eyes - jaundice. Bruising and excessive bleeding (e.g., nose bleeding – epistaxis) can appear as the damage progresses, as well as abdominal distention or varices. It’s necessary to realize that the liver is an important organ that produces many irreplaceable proteins and enzymes for whole-body functioning and metabolism and can cause a broad scheme of symptoms. Diagnosis Since NAFLD doesn’t usually cause symptoms, or the symptoms are very mild, the disease is often diagnosed unexpectedly, based on abnormal blood liver enzyme levels or an unusual ultrasound. It’s important to rule out any other possible cause of liver damage first, such as viral hepatitis. Blood tests, including liver enzyme levels (ALT, AST, ALP) and other liver function indicators (albumin, bilirubin), combined with an ultrasound scan are key methods for the right diagnosis. A liver biopsy (tissue sample removal) can be recommended in case of inconclusive results. Therapy So far, there have unfortunately been no pharmacological treatment agents approved for the treatment of NAFLD or NASH. Lifestyle modifications remain the only essential therapy for NAFLD and correspond to the ones used to prevent the disease in the first place. It’s also necessary to manage any other risk factors such as high blood pressure or high blood sugar. In case of progressed liver cirrhosis, a liver transplant may be indicated. Prevention As already mentioned above, the development of the disease is hugely based on one’s lifestyle. Introducing diet changes can be highly beneficial, especially when combined with regular exercise. Implementing at least basic diet principles, such as regular eating or avoiding saturated and trans fats, processed food, and foods high in sugars, can prevent a broad spectrum of metabolic diseases. Prognosis The early stage of NAFLD does not cause any harm and the patient’s health isn’t severely endangered, but it’s important to not underestimate the disease in its primary stage. Fat buildup in the liver can increase the risk of other serious health conditions, such as diabetes, high blood pressure, or kidney disease, including all their complications. Between 7 to 30 percent of patients with the non-alcoholic fatty liver disease eventually develop inflammation of the liver (non-alcoholic steatohepatitis), followed by the main complication, liver cirrhosis [5] . That can eventually lead to end-stage liver failure or liver cancer which are highly endangering patient’s life. Recommendations Exercise regularly, at least 3 times a week for 30 minutes. Eat regularly, optimally 5 times a day. Drink clear fluids without added sugars, and avoid soft drinks and alcoholic beverages. Avoid processed foods and fast foods. Try to maintain a daily income of 30g of fiber (whole grain flour, vegetables, beans, etc.).

### High Cholesterol

- URL: https://macromo.com/blog/diseases-risks/high-cholesterol
- Published: 2023-09-14
- Category: diseases-risks
- Author: Anna Fiserova

Observed genes Polygenic score Influential genes: LPA,LDLR, APOB The LPA gene provides instructions for making a protein, which combines with LDL to form Lp(a). High levels of Lp(a) are associated with an increased risk of cardiovascular disease. Mutations in LDLR can lead to reduced uptake of LDL cholesterol by cells, leading to higher levels of cholesterol in the blood. If the APOB gene is altered due to mutations, it can interfere with the process of LDL cholesterol recognition by the LDL receptor, which can cause a higher concentration of LDL cholesterol in the blood. Overview High cholesterol is a condition characterized by high levels of cholesterol in the blood. Cholesterol is a fatty substance that is synthesized by the human body and is a part of every human cell. It's an important structure needed for hormone synthesis (for example vitamin D), utilization of other fats, and forming cell membranes. Cholesterol is both synthesized by the human body and absorbed from food intake. Once the amount of cholesterol exceeds the physiological values, cholesterol reacts with other substances and can form plaques that build up on the walls of arteries, a state also known as atherosclerosis. Atherosclerosis can result in a narrowing of the vessels, restricted blood flow and, therefore, limited oxygen supply to the tissue behind the affected vessel. Without treatment, patients are at a high risk of developing heart failure, strokes, or heart attacks. Cholesterol is carried through the blood bound to lipoproteins. Based on those lipoproteins, it's possible to point out different types of cholesterol. Each type of cholesterol has a different effect, with some being protective and some increasing the risk of complications. LDL (low-density lipoprotein) - referred to as “bad cholesterol”, makes up most of the body's cholesterol. High levels of LDL increase the risk of developing heart disease and stroke. HDL (high-density lipoprotein) - the so-called “good cholesterol” helps to return LDL from arteries to the liver and therefore lowers the risk of atherosclerosis and other complications. The most common cause of high cholesterol is an unhealthy lifestyle. Unhealthy eating habits, lack of physical activity and smoking increase the blood levels of LDL and decrease HDL values. Prevalence & Risk factors High cholesterol is a very common condition representing a serious and increasing threat, especially in developed countries, due to unhealthy lifestyle habits. The global prevalence among adults is estimated to be approximately 39%. [1] Western European countries, such as Greenland, Iceland, Andora, and Germany have the highest cholesterol levels in the world. The lowest cholesterol levels have been reported in African countries. Raised cholesterol levels majorly increase the risk of heart disease (almost one-third of ischemic heart disease worldwide is attributed to high cholesterol levels) and stroke. Risk factors are closely associated with an unhealthy lifestyle: Unhealthy diet - intake of “bad” fats can increase LDL levels. Saturated fats - in baked goods, fried and processed foods. Trans fats - present in fried and processed foods or margarine, that is often used instead of butter. Lack of physical activity - insufficient physical activity leads to lowering of the good cholesterol (HDL). Smoking - has an effect on both HDL and LDL cholesterol, especially in women. It also damages blood vessels, facilitating plaque attachment. Alcohol abuse Other risk factors include: Obesity (BMI > 30) Age (Men 45 or older and women 55 or older have a higher risk of high cholesterol and heart disease) Race Sex (more prevalent in women - LDL levels increase after menopause) Type 2 diabetes High blood pressure Positive family history Genetics There has been no exact gene discovered that would be responsible for high cholesterol as we know it in most of the population. But genetics definitely play a role, mainly in conditions causing the increase of cholesterol levels, such as obesity, overeating, or diabetes. Patients with a positive family history are at a higher risk if combined with an unhealthy lifestyle. This type of inheritance is called multifactorial. In the smaller percentage of cases, high cholesterol can actually be a result of a disease with a clear genetic pattern. Familial hypercholesterolemia is the world’s most common autosomal dominant genetic disease leading to an extreme increase in LDL values, causing the development of heart disease at a very young age. It is caused by mutations in the LDL receptor gene ( LDLR ), which encodes a protein that removes LDL cholesterol from the bloodstream. Furthermore, mutations in other genes, such as PCSK9 , can also cause high cholesterol. [5] In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms High cholesterol doesn't have any symptoms and it's only diagnosed based on blood levels. People are often unaware that their cholesterol is high. The absence of symptoms may increase the risk of suffering a stroke or heart attack; however, regular check-ups may help control cholesterol levels and prevent complications Diagnosis A blood test, also known as a lipid panel, is the only way to assess cholesterol levels. The lipid profile/panel test evaluates LDL, HDL, Triglycerides, and total cholesterol levels. Everyone older than 20 should undergo a blood test at least once in five years to prevent possible complications early enough. Fasting ranges are the following: LDL Normal values: 1,2 - 3,0 mmol/l Values above 3 mmol/l increase the risk of atherosclerosis and connected diseases. Desired value for patients with coronary heart disease is < 1,8 mmol/l HDL Normal values for men: 1,0–2,1 mmol/l. Normal values for women: 1,2–2,7 mmol/l. Values under 1 mmol/l increase the risk of heart disease. Triglycerides (TAG) should be < 1,7 mmol/l Total cholesterol Normal values: 2,9–5,0 mmol/l. Recommended values for sick people with higher cardiovascular risk: <4,5 mmol/l. Patients at the highest risk (already developed cardiovascular disease) should hold their total cholesterol under < 4 mmol/l Therapy If your cholesterol is found to be high, medical specialists will recommend various treatment options, starting with lifestyle changes. General diet changes The Mediterranean diet can be recommended due to its low content of saturated fats and high amounts of desired mono- and polyunsaturated fats. Avoiding alcohol consumption Regular exercise Weight management If those changes aren't sufficient alone, medications, most commonly statins, may be prescribed. But it's important to realize that medications are insufficient without permanent lifestyle changes. Statins - blocking an enzyme needed in cholesterol synthesis. Atorvastatin, fluvastatin, lovastatin Cholesterol absorption inhibitors Ezetimibe Bempedoic acid - same principle as statins with lower side effects. Bile-acid-binding resins - lowering cholesterol indirectly by increasing bile synthesis. Cholestyramine, colesevelam, colestipol PCSK9 inhibitors - increasing the LDL absorption in the liver. Alirocumab, evolocumab Prevention Good news is that high cholesterol is often preventable and treatable. Combining a healthy diet and regular exercise, as well as avoiding smoking and alcohol, could all be really efficient ways to prevent the development of high cholesterol. Healthy diet Avoid saturated and trans fats - fried and processed foods, coconut oil, cakes, biscuits, sausages, bacon, or cheese. Lower sugar intake, especially processed sugars in soft drinks, syrups, or candy. The daily intake of cholesterol in diet shouldn't exceed 300 mg per day (e.g.. 1,5 egg). [2] Regular exercise - at least 30 minutes of moderate exercise per day. Avoid smoking Limit your alcohol consumption to a maximum of 1 drink per day for women and 2 drinks per day for men. [3] And most importantly - don't postpone regular check-ups and blood tests to prevent any complications on time. Prognosis If the patient adheres to lifestyle changes and treatment recommendations and therefore stabilizes cholesterol levels, the prognosis is very positive and the patient's risk of complications is not significantly increased. A 10% decrease in total blood cholesterol levels can reduce the incidence of heart disease by as much as 30%. [4] Recommendations Adhere to regular checkups and blood tests, high cholesterol doesn't usually cause any symptoms until it's too late. Make sure that your daily intake of cholesterol in diet shouldn't exceed 300 mg per day (e.g. 1,5 egg)

### Coronary Artery Disease

- URL: https://macromo.com/blog/diseases-risks/coronary-artery-disease
- Published: 2023-09-14
- Category: diseases-risks
- Author: Hana Voberkova

Observed genes Polygenic score Influential genes: FBN2, MMP13 Mutations in the FBN2 gene have been implicated in the development of CAD and other connective tissue disorders. MMP13 is a gene linked to coronary artery disease (CAD), where the coronary arteries narrow, restricting blood flow to the heart. Overview Coronary artery disease (CAD) is a dynamic disease and as such it is characterized by a progressive build-up of deposits ( plaques ) in the walls of coronary arteries - blood vessels - which are responsible for the transport of oxygenated blood to the heart muscle itself ( myocardium ). This process is called atherosclerosis and it can lead to the narrowing or complete blockage of the arteries. In addition, the plaques can also rupture, causing platelets to clump together and form a blood clot that leads to further restriction of the flow. This clot sometimes breaks up on its own, but sometimes it completely blocks the already narrowed flow, thus definitively depriving the heart muscle of oxygen and nutrients, and causing a heart attack. (1, 4, 5) Atherosclerosis is the leading mechanism behind CAD. The current evidence suggests that CAD begins with damage or injury to the inner layer ( intima ) of the coronary artery. This damage can be caused by a number of factors, the most common being toxins from cigarette smoke, high blood pressure, high cholesterol, obesity, or diabetes. Subsequently, fatty deposits made up of cholesterol, blood cells, and other small particles begin to accumulate at the site of damage, forming an atherosclerotic plaque. (5) Fig 1: Atherosclerosis | Cleveland Clinic CAD usually begins in childhood and first becomes clinically apparent in middle to late adulthood - depending on the presence of various risk factors and the rate of progression, which varies from person to person. (3) Because of its dynamic nature, the disease can present itself in variable ways, which can be divided into two big groups - acute coronary syndromes (ACS) and chronic coronary syndromes (CCS). (1) CHRONIC CORONARY SYNDROMES Patients diagnosed with CCS most often have a history of stable angina pectoris with either concomitant risk factors for atherosclerosis or a personal history of atherosclerotic cardiovascular disease. (6) Angina pectoris , also known as angina, refers to a condition accompanied by uncomfortable, most often painful chest sensations caused by inadequate coverage of the heart's oxygen requirements. Angina can be stable or unstable. If it is stable , it manifests predictably and at the same level of exertion; in addition, symptoms subside with rest or after administration of nitroglycerin. (6) Unstable angina refers to either the first manifestation of the disease or any subsequent worsening of angina (e.g. newly developed exertional angina, sudden aggravation of existing AP, an attack of AP at rest) ACUTE CORONARY SYNDROMES Patients diagnosed with ACS have either suspected or confirmed acute myocardial ischemia (restriction in blood supply) or infarction (irreversible death of cells). The common basis of all forms of ACS is an unstable, ruptured, or otherwise damaged atherosclerotic plaque in a coronary artery. As explained above, blood clotting and thrombus formation occur as a result, leading to either short-term acute myocardial ischemia without cell death (unstable AP) or prolonged acute ischemia with a transition to necrosis (myocardial infarction). The three traditional types of ACS are: Unstable angina pectoris Acute non-ST-elevation myocardial infarction (NSTEMI) - A regional form of a heart attack (myocardial infarction) with small noticeable changes on the ECG Acute ST-elevation myocardial infarction (STEMI) - A severe form of myocardial infarction extending across the entire muscle wall, usually accompanied by subsequent functional and structural changes of the heart and significant ECG findings. Prevalence & Risk factors Coronary artery disease remains a leading cause of death worldwide and the most prevalent cardiovascular disorder. (8) According to recent studies, the worldwide prevalence of CAD is still on the rise. The estimated 2020 prevalence of 1,655 cases per 100,000 population (approx. 1:60) is projected to exceed 1,845 cases (approx. 1:54) by 2030. The highest prevalence of the disease is recorded in Eastern Europe. (8) With such a high prevalence of this disease, it is obvious that understanding its risk factors is essential to prevent possible consequences as much as possible, especially because many of them can be modified. (2) Other possible risk factors are the subject of ongoing studies. These might include high levels of hs-CRP, sleep apnea, high triglycerides, increased levels of homocysteine, alcohol consumption, autoimmune diseases, or preeclampsia. (5) Genetics Coronary artery disease (CAD) is a complex and common disorder. Back in the 1950's it was hypothesized that CAD might be a heritable condition, and this was later confirmed by a study of over 20,000 Swedish twins. There is an existing increased risk of developing CAD among close relatives. Since 2007, researchers have been using larger sample cohorts in their studies to examine the genetic nature of the condition. That resulted in around 60 confirmed genetic loci (gene position on the chromosome) for the disorder. Recently, three large CAD consortia and collaborations across the world presented 321 loci showing significant association with CAD. (9, 10) Studies and research have demonstrated that the development comes from the cumulative effect of many common risk alleles each with a small effect, rather than from the effect of rare variants with large effects. This progress has been enabled by technological advances, such as high-throughput DNA microarray technology. (11) Here in Macromo, polygenic risk scores are used to determine the genetic risk. The polygenic risk score (PRS) is an estimate of the probability that an individual carries a given trait based on genetics, without considering environmental factors. Variants across their genome are summed and weighted according to their effect on the disease or trait. (12) Signs & Symptoms As the plaque builds up, less and less blood is supplied to the heart muscle, especially when the demand for oxygen increases during physical activity. Initially, it may not cause any symptoms, but as the plaque grows, several symptoms may appear: All in all, if left untreated, coronary artery disease can (over time) lead to severe complications, namely: Unstable angina pectoris Heart attack Heart failure Arrhythmias Inflammation of the pericardium Rupture of the heart’s muscle wall Insufficiency of the valves Thromboembolic event originating from a thrombus formation inside the heart Cardiac arrest Cardiogenic shock Diagnosis The diagnosis of coronary artery disease is most often made after the first symptoms appear and the patient seeks medical attention. To diagnose CAD, several tests and methods may be used depending on the urgency of the situation: (4) Family and personal clinical history Physical examination Blood tests ECG Echocardiogram Stress testing (using specific medications or exercise) Cardiac catheterization Nuclear imaging CT angiogram Therapy The best course of treatment varies from patient to patient depending on the presence of modifiable and other risk factors and the severity of coronary artery narrowing. (4, 5) Prevention Lifestyle changes not only help people already diagnosed with CAD, but also everyone who wants to prevent the disease altogether. To lower the probability of CAD: (5) Quit smoking Follow a healthy diet rich in fruits, vegetables and low-fat dairy products; and low in meats, sweets, salt, and refined grains. Find time to exercise regularly Maintain a healthy weight Limit the alcohol intake to a minimum Reduce stress Good quality sleep Reduce stress Treat clinical risk factors like diabetes or hypertension Prognosis It is estimated that CAD is the cause of approximately one in four deaths and is therefore the most common cause of death in the United States. According to the WHO, it is still the world's biggest killer, being responsible for 16% of all deaths worldwide. It is associated with approximately 17.8 million deaths per year. (13) The coronary disease cannot technically be cured completely. However, with the right approach, it is possible to slow its progress and prevent it from worsening. (4) Recommendations If you are overweight, try to lose weight. Even a small weight loss can be beneficial. Follow a diet rich in fruits, vegetables, and low-fat dairy products, and low in meats, sweets, and refined grains. Eat less salt. It will lower the excess fluid in your body as well as your blood pressure and also allow your medicines to work properly. Try to include regular exercise in your daily life. Limit the alcohol you drink to a minimum. If you are smoking, try your best to stop.

### Thyroid Cancer

- URL: https://macromo.com/blog/cancer-risks/thyroid-cancer
- Published: 2023-09-14
- Category: cancer-risks
- Author: Anna Fiserova

Observed genes Polygenic score Influential genes: PTCSC2,NRG1,DIRC3 PTCSC2 is a gene that has been linked to an increased risk of developing papillary thyroid carcinoma (PTC), the most common type of thyroid cancer. NRG1 plays a role in the growth and development of multiple organ systems. An association of NRG1 gene and papillary thyroid cancer has been reported in scientific literature. The DIRC3 gene has been shown to be downregulated in differentiated thyroid carcinomas (DTC). Moreover, its high expression in tumors may reduce the risk of tumor recurrence. Summary Thyroid cancer is an abnormal growth of the cells originating in the thyroid gland, a gland producing hormones that regulate the body's metabolism. As thyroid cancer grows, it can cause voice changes and difficulty swallowing. One of the main risk factors is exposure to ionizing radiation and pre-existing thyroid disease. Overview Thyroid cancer is a disease in which malignant cells form in the tissues of the thyroid gland - a small gland located on our neck producing hormones that regulate the body's metabolism. There are four different types of thyroid cancer, including papillary carcinoma, follicular carcinoma, medullary thyroid carcinoma, and anaplastic carcinoma - all of which have an individual prognosis, affect different cells and target different groups of patients: Differentiated thyroid cancer Papillary carcinoma represents 80% of thyroid carcinomas, affects younger patients (40 - 60 years old), and grows slowly with a good prognosis. Follicular carcinoma represents 10% of thyroid carcinomas and has a worse prognosis. It tends to metastasize via blood to bones, lungs, and brain. Medullary thyroid carcinoma develops from different types of cells than two previously mentioned tumors - parafollicular cells; those cells produce calcitonin, a hormone majorly important in calcium metabolism. Its growth is quite aggressive and may often occur familially - up to 25% of medullary thyroid carcinomas run in families.[1] Anaplastic carcinoma is an aggressive tumor that develops quickly, compresses surrounding structures, and quickly spreads via both blood and lymphatic systems. Fortunately, it represents overall only 2% of thyroid cancers. Prevalence & Risk factors Over the last decades, the incidence of thyroid cancer has kept rising, mainly due to the increase in the usage of ultrasound examinations leading to the detection of even small tumors. A higher increase is observed in the more developed countries compared to less developed countries - however, the mortality rates are equal. The incidence also differs in sex and region, affecting three times more women than men and most affected countries in Europe being Lithuania, Italy, and Austria.[2] Thyroid cancer is nowadays the most common endocrine cancer and represents the seventh most common malignancy in women - but it is not even among the 15 common cancers in men.[3] The exact reason for the malignant growth of the cells is unfortunately unknown, but certain risk factors can increase the risk of developing the disease. The female sex increases the risk of developing thyroid cancer probably due to estrogens, which are generally present in higher levels in the female body. Unfortunately, the exact link still has not been discovered. Radiation exposure is also a proven risk for thyroid cancer, especially at a younger age. The most common radiation source is medical treatment, but radiation fallout from nuclear plant accidents or nuclear weapons can also be responsible. For example, a significant increase in thyroid cancer incidence was reported after the Chernobyl disaster, mainly among children and adolescents. Inherited genetic syndromes, such as MEN 2A and MEN 2B, can cause thyroid cancer alongside other malignant processes. Although their influence is significantly lower, there are even more risk factors, including thyroid nodules, high BMI, lifestyle, diet, iodine deficiency, or autoimmune diseases.[4] Genetics Recent progress in genome sequencing has offered a better understanding of the molecular mechanisms of thyroid cancer (TC). Familial forms of medullary thyroid cancer (MTC) have been described, but a person with an affected first degree relative with non-medullary thyroid cancer has a 4x to 10x higher risk of developing the disease as well.[11,12] The molecular mechanisms of TC involve disruption of important cellular signaling pathways (a series of chemical reactions that result in the activation/deactivation of certain cellular functions: e.g. MAPK and PI3K/AKT).[11] Mutations in the following genes have been described to cause TC: RET, RAS, P13K/AKT, BRAF, and TERT . Many research groups described an association of BRAF variant p.V600E (amino acid valine is replaced with glutamic acid on position 600) with poor outcomes of papillary thyroid cancer (PTC), including increased risk of recurrence and treatment failures. Observed hTERT mutations have a significantly higher prevalence in aggressive TC tumors and mutations of the BRAF , RAS, or RET genes are found in up to 70% of PTC cases. Overall, cancer-promoting mutations are identified in more than 90% of patients.[12,13] Here in Macromo, polygenic risk scores are used to determine the genetic risk. The polygenic risk score (PRS) is an estimate of the probability that an individual carries a given trait based on genetics, without considering environmental factors. Variants across their genome are summed and weighted according to their effect on the disease or trait. Signs & symptoms It's quite common for patients with thyroid cancer to experience only mild symptoms or none. The changes that might indicate the disease include: A painless lump in the front of the neck Difficulty swallowing Difficulties breathing Swelling in the neck Persistent cough Hoarseness or other voice changes Pain in the throat or neck If you experience any of these symptoms, don't hesitate to contact your doctor. But don't panic; in many cases, the causes of those symptoms are non-cancerous medical conditions.[5] Lumps in the thyroid gland are very common, and in 95% bening - it's estimated that more than half of the population will have at least one thyroid nodule by the age of 60.[6] Diagnosis If any present symptoms increase the suspicion of thyroid cancer, your doctor will do a thorough anamnesis, physical examination and might indicate further steps. A blood test, called a thyroid function test, is used to assess thyroid hormone levels. Abnormal thyroid levels usually indicate issues other than cancer, such as hypo or hyperfunctioning thyroid gland. To find suspicious areas and their characteristics, various imaging methods are used. One of the most used methods is ultrasound, especially because it's quick, cheap, and usually readily available. Ultrasound uses high-frequency sound waves and creates a real-time image of the inside of your body. A biopsy must be performed to assess whether a thyroid lump is cancerous. During biopsy, a small amount of tissue is extracted with a needle and analyzed in the lab. This histopathologic examination is the only method able to confirm the diagnosis, sometimes the biopsy is only obtained during the surgery to decide about the next step intraoperatively.[7] Therapy Thyroid cancer therapy highly depends on the type of cancer and how much it has spread. A widespread method is a surgery called a thyroidectomy, in which the thyroid gland or its parts are surgically removed. Another commonly used procedure is radioactive iodine treatment , in which a radioactive substance is swallowed in the form of a drink or a capsule and absorbed in the gut. It then travels to the thyroid gland, and attacks cancerous cells locally. Iodine is a main component in the synthesis of thyroid hormones, which is why the therapy works very well and only affects the gland while sparing the body. Some newer methods include thyroid hormone therapy and targeted cancer drugs that directly target the cancer cells and try to minimize the damage to healthy cells. If other treatments aren't successful, external radiotherapy might be used - a method in which radioactive beams try to damage the cancer cells from a machine outside the body. Chemotherapy isn't commonly used for thyroid cancer, only if cancer has spread or returned and can't be sufficiently treated by the other treatment options.[8] Prevention As in all cancers, thyroid cancer can't be fully prevented, and most of the patients didn't have any known risk factors causing the development of the disease. But as we already know, proven risk factors exist, and it's therefore always beneficial to limit exposure to them to the minimum. Limit radiation exposure . Many professions, mainly in healthcare, include working in an environment with an increased risk of radiation exposure; healthcare workers should therefore wear a protective vest and neck protector and limit their exposure to the minimum. Radiation treatment can also no longer be used for less serious diseases. Consider genetic counseling if you have a positive family history of thyroid cancer . Most familial cases can be prevented by removing the thyroid gland and supplementing its hormones.[9] Don't underestimate regular preventive checkups. An early diagnosis is key to the successful treatment of the disease. Adhere to a healthy lifestyle , including diet and physical movement.[10] Prognosis On the opposite of the incidence of thyroid cancer, mortality rates have decreased in Europe over time. Thyroid cancer has overall the highest survival rate and the best prognosis of all malignant tumors, except for some rare histological types (such as the previously mentioned anaplastic thyroid carcinoma, which is one of the most aggressive cancers in humans). The 5-year relative survival rate in Europe ranges from 80-90%. Due to the increased detection and better diagnostics, many thyroid tumors are found in the initial stages and might be effectively treated.[2] Recommendations Limit radiation exposure to the minimum, especially around your head and neck. Adhere to regular preventive checkups. It's the key to an early diagnosis and, therefore, a good prognosis. Be aware of your family history of thyroid cancer. Don't hesitate to contact your doctor if you find lumps in your neck or experience difficulty swallowing, breathing, or a hoarse voice.

### Melanoma

- URL: https://macromo.com/blog/cancer-risks/melanoma
- Published: 2023-09-11
- Category: cancer-risks
- Author: Clara Boettcher Mallmann

Observed genes Polygenic score Influential genes: MC1R,TYR,CLPTM1L The MCR1 gene is well established in the context of melanoma risk. This gene controls the type of melanin pigment that is produced by melanocytes: eumelanin or pheomelanin. The TYR gene codes for an enzyme that plays a key role in the production of melanin, the pigment that gives color to the skin, hair, and eyes. Variants in the CLPTM1L gene have been associated with an increased risk of several cancers, including melanoma. Overview Melanoma is a highly aggressive and malignant tumor arising from cells called melanocytes. While it is not the most common skin cancer type, it is the most aggressive one due to its ability to spread to other organs rapidly. It is the 5th most common cancer in the US, and despite an increased awareness its incidence has increased by an average of 4% every year since the early 1970s.[1;5] The prevalence of melanoma depends on where you live. The risk of developing melanoma correlates with both genetic and personal characteristics and a person's UV exposure behavior. Melanomas present themselves in many different shapes, sizes, and colors. It is very tricky to self-diagnose them, but it is vital to observe new, changing, or unusual-looking skin lesions on both sun-exposed and protected areas of the body. Women tend to develop melanomas on the legs, whereas, in men, they can be found more often on the trunk. A worldwide method to assess potential melanomas is the so-called "ABCDEs of melanomas". The primary treatment for melanoma is excision, but further treatment depends on the diagnosed stage. Prevalence & Risk factors The incidence of melanoma in the white population increased with decreasing latitude, with the highest incidence recorded in Australia. Be extra cautious if any of the following applies to you: You're a fair-skinned individual having a large number of atypical nevi (moles) You have blue eyes and red or fair hair You have a pale complexion Fair-skinned people naturally have little UV protection. Sunburns at an early age and having a benign skin lesion are also considered risk factors by several epidemiological studies. Approximately 10% of melanomas are familial, meaning they arise from a genetic background.[2] Genetics Melanoma is a type of disease influenced by more than one single gene. It is estimated that about 10% of melanoma cases are of familial nature. The presence of affected close relatives and positive family history are connected to a higher risk of disease development. Even though most of the genetic changes are represented by somatic mutations, inheritance plays an important role. Due to the research and technological progress, we already know several genes associated with melanoma, such as: CDKN2A or BRAF - according to research, these high-penetrance genes are associated with the increased risk of melanoma CDK4 , BAP1 , POT1 , ACD , TERF2IP or TERT - less common susceptibility genes[3] CDKN2A was the first identified susceptibility melanoma gene, mutations are often found among relatives, and are connected with higher counts of atypical nevus.[4][6] Despite our current knowledge of the susceptibility genes gained from years of research, the genetic mechanism and pathways are still not fully understood.[3] However, it is important to mention that sun exposure and UV light exposure are suggested to trigger these mutations' expression. Signs & Symptoms Melanomas often look like brown moles or birthmarks. What makes them different from normal moles is that they have an asymmetric shape, uneven borders, different colors within the same mole, are larger than the eraser on the end of a pencil in diameter, and sometimes they turn into sores that bleed. The worldwide accepted method to recognize melanomas is by using the appearance ABCDE criteria: A = asymmetry B = border C = color D = diameter (>6mm) E = evolution (lesion changes in size, shape or color over time) Diagnosis The clinical recognition of melanoma may be challenging, especially in its early stages. The history of the lesion and risk factors are vital aspects that the doctor investigates to evaluate a mole further. A detailed skin examination, including the visual analysis of the mole based on the ABCDE criteria, searching for the "ugly duckling" (which is the presence of a single lesion that does not match the patient's other nevi), and the history of the changes of the specific mole are all extremely important. The doctor may use dermoscopy to examine all suspicious lesions. Furthermore, a full-thickness excisional biopsy is the gold-standard diagnostic test for melanomas. Finally, the melanoma is rated according to the tumor's thickness, the spread to lymph nodes, and distant metastases. Therapy There are different approaches considering the treatment course for melanoma. Usually, it is treated by surgery, excising the area with cancer and all affected lymph nodes. In addition, doctors may choose to use immunotherapy, targeted therapy, or radiation therapy. Prevention The primary prevention against melanomas is protecting the skin from UV light, as sun exposure and sunburns are significant causes of melanoma. Avoiding sun exposure during the middle of the day (12:00 - 15:00), applying sunscreen before sunbathing, wearing protective clothing, and not using tanning beds are essential steps in preventing melanomas. In addition, you can check for your family history and consider genetic testing to check for genetic mutations that are related to an increased chance of developing melanoma. Prognosis The overall 5-year survival rate will depend on the thickness of the primary lesion, whether there was lymph node involvement, and whether the melanoma has spread to distant sites or not. People with "thin melanoma" (<1mm) and with no lymph node involvement have a 99% 5-year survival rate.[9] Recommendations Avoid getting sunburns Don’t use tanning beds Use sunscreen whenever you go out and reapply it frequently Wear protective clothing (e.g., sunglasses, hats) Avoid midday sun (12:00 - 15:00) in summer

### Urology Medications

- URL: https://macromo.com/blog/medications/urology-medications
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Urology Medications Drugs used to treat urinary system disorders, such as urinary incontinence, overactive bladder, and benign prostatic hyperplasia. They work by relaxing bladder muscles or shrinking the prostate to improve urinary flow. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Nitrofurantoin Phenazopyridine Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Statins

- URL: https://macromo.com/blog/medications/statins
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Statins A class of cholesterol-lowering drugs that inhibit the enzyme responsible for cholesterol synthesis. They help prevent cardiovascular diseases by lowering LDL cholesterol and reducing plaque buildup in arteries. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Atorvastatin Fluvastatin Lovastatin Pitavastatin Pravastatin Rosuvastatin Simvastatin Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Psychiatric Medications

- URL: https://macromo.com/blog/medications/psychiatric-medications
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Psychiatric Medications These medications treat a wide range of mental health disorders, such as depression, anxiety, and schizophrenia. They help improve symptoms by balancing brain chemicals, allowing patients to lead a better quality of life. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Amitriptyline Aripiprazole Brexpiprazole Citalopram Clomipramine Desipramine Doxepin Escitalopram Fluvoxamine HaloperidolImipramine Nortriptyline Paroxetine Pimozide Quetiapine Risperidone Sertraline Trimipramine Venlafaxine Zuclopenthixol Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Oncology Medications

- URL: https://macromo.com/blog/medications/oncology-medications
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Oncology Medications A broad category of drugs used to treat cancer by targeting and destroying cancer cells. These medications include chemotherapy, targeted therapy, and immunotherapy agents, aimed at preventing cancer progression and recurrence. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Capecitabine Doxorubicin Irinotecan Pegloticase Rasburicase Tamoxifen Tegafur Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Neurologic Medications

- URL: https://macromo.com/blog/medications/neurologic-medications
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Neurologic Medications Drugs targeting the nervous system, used to treat conditions like epilepsy, multiple sclerosis, and Parkinson's disease. They work by stabilizing nerve cell function, reducing symptoms and improving patients' quality of life. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Atomoxetine Carbamazepine Fosphenytoin Oxcarbazepine Phenytoin Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Immunotherapy

- URL: https://macromo.com/blog/medications/immunotherapy
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Immunotherapy These drugs harness the immune system's natural defenses to fight diseases, including cancer and autoimmune disorders. By stimulating or suppressing immune responses, they aim to restore the body's ability to recognize and eliminate harmful cells. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Eliglustat Isoflurane Siponimod Tacrolimus Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Hematology Medications

- URL: https://macromo.com/blog/medications/hematology-medications
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Hematology Medications Drugs that manage blood-related conditions, such as anemia, clotting disorders, and blood cancers. They include blood thinners, clotting factor replacements, and erythropoiesis-stimulating agents. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Acenocoumarol Azathioprine Mercaptopurine Methylene Blue Phenprocoumon Thioguanine Vitamin K Warfarin Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Gynecology Medications

- URL: https://macromo.com/blog/medications/gynecology-medications
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Gynecology Medications A range of medications targeting women's reproductive health, such as hormonal contraceptives, fertility treatments, and drugs for managing menopause symptoms. They aim to maintain hormonal balance and support reproductive well-being. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Hormonal Contraceptives For Systemic Use Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Gastroenterology Medications

- URL: https://macromo.com/blog/medications/gastroenterology-medications
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Gastroenterology Medications Drugs that address gastrointestinal conditions, including acid reflux, inflammatory bowel disease, and irritable bowel syndrome. They work by reducing inflammation, regulating stomach acid, or altering bowel motility. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Aminosalicylic Acid Dexlansoprazole Lansoprazole Omeprazole Pantoprazole Sulfasalazine Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Cardiovascular Medications

- URL: https://macromo.com/blog/medications/cardiovascular-medications
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Cardiovascular Medications These medicines target the heart and blood vessels to treat conditions such as high blood pressure, heart failure and angina. They are designed to prevent heart attacks, strokes and other cardiovascular events. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Aspirin Atorvastatin Clopidogrel Flecainide Fluvastatin Lovastatin Metoprolol Pitavastatin Pravastatin Propafenone Rosuvastatin Simvastatin Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Beta Blockers

- URL: https://macromo.com/blog/medications/beta-blockers
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Beta Blockers Medications that reduce blood pressure, heart rate, and strain on the heart. They are often prescribed for hypertension, angina, heart failure, and arrhythmias, as well as to prevent future heart attacks. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Metoprolol Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Antivirals

- URL: https://macromo.com/blog/medications/antivirals
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Antivirals Medications designed to combat viral infections by inhibiting viral replication or blocking the virus from entering host cells. They are used to treat illnesses like HIV, hepatitis, and influenza. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Abacavir Atazanavir Ciprofloxacin Efavirenz Norfloxacin Ofloxacin Peginterferon Alfa-2A Peginterferon Alfa-2B Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Antipsychotics

- URL: https://macromo.com/blog/medications/antipsychotics
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Antipsychotics Medications used to manage symptoms of psychotic disorders, including schizophrenia and bipolar disorder. They work by regulating dopamine and other neurotransmitter levels to reduce hallucinations, delusions, and agitation. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Aripiprazole Brexpiprazole Haloperidol Pimozide Quetiapine Risperidone Zuclopenthixol Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Antiplatelets

- URL: https://macromo.com/blog/medications/antiplatelets
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Antiplatelets Medications that inhibit blood clot formation by preventing platelets from sticking together. Primarily used to reduce the risk of heart attacks, strokes, and other clot-related complications. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Aspirin Clopidogrel Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Antifungals

- URL: https://macromo.com/blog/medications/antifungals
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Antifungals Medications that treat fungal infections by either inhibiting fungal growth or destroying the fungal cell membrane. They are used to manage conditions like athlete's foot, yeast infections, and systemic fungal infections. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Amikacin Flucytosine Gentamicin Kanamycin Paromomycin Streptomycin Tobramycin Voriconazole Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Antiemetics

- URL: https://macromo.com/blog/medications/antiemetics
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Antiemetics Medications that prevent or alleviate nausea and vomiting by blocking certain neurotransmitters in the brain. They are commonly prescribed for patients undergoing chemotherapy or experiencing motion sickness. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Ondansetron Tropisetron Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Antidepressants

- URL: https://macromo.com/blog/medications/antidepressants
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Antidepressants A class of drugs used to relieve symptoms of depression by increasing levels of neurotransmitters, such as serotonin, in the brain. They may also treat anxiety, obsessive-compulsive disorder, and PTSD. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Amitriptyline Citalopram Clomipramine Desipramine Doxepin Escitalopram Fluvoxamine Imipramine Nortriptyline Paroxetine Sertraline Trimipramine Venlafaxine Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Antiarrhytmics

- URL: https://macromo.com/blog/medications/antiarrhytmics
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Antiarrhytmics Drugs that control irregular heartbeats by regulating the electrical activity in the heart. They maintain normal heart rhythm, minimizing the risk of complications like heart failure and stroke. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Flecainide Propafenone Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Analgesics

- URL: https://macromo.com/blog/medications/analgesics
- Published: 2023-09-06
- Category: medications
- Author: Anna Fiserova

Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare. Analgesics Pain-relieving medications that work by interfering with pain signals in the central nervous system. They range from mild, over-the-counter options like NSAIDs to stronger prescription opioids for severe pain management. Below is a list of medications from this group that are included in the Macromo DNA Premium and Macromo DNA Platinum tests. Please note that some of the medications might be included in multiple groups. Codeine Celecoxib Flurbiprofen Hydrocodone Ibuprofen Lornoxicam Meloxicam Piroxicam Tenoxicam Tramadol Disclaimer Our DNA test provides information about your medication metabolism, which helps your doctor in determining the best treatment plan for you. It is important to note that it is not a substitute for medical advice. Do not change your medication regimen without consulting your doctor, as they are best equipped to interpret the results to make informed decisions about your healthcare.

### Uterine Fibroids

- URL: https://macromo.com/blog/diseases-risks/uterine-fibroids
- Published: 2023-09-06
- Category: diseases-risks
- Author: Yevhenia Rakhmankina

Overview Uterine fibroids, also known as uterine leiomyomas, are the most common pelvic tumors. These are noncancerous outgrowths that can be solitary or multiple and appear on different parts of the uterus. Many women have them at some point in their life, but they mostly remain asymptomatic. Sometimes, women can experience abnormal uterine bleedings, pelvic pain, pain during sex, frequent urination, constipation, pregnancy complications, etc. There are several risk factors influencing the development of the fibroids such as age, race, genes, lifestyle, diet, and other diseases. The diagnosis is based on the pelvic examination and ultrasound. The treatment depends on the size, location, and whether there are any symptoms present. Various options are available, including medications and different procedures. Prevalence & Risk factors The prevalence of uterine fibroids is estimated to be around 75% of women in their reproductive age. [1] Leiomyomas do not occur before puberty, their frequency increases with age and decreases in postmenopausal women. The prevalence is higher in African-American women, they also tend to have uterine fibroids at a younger age and are more prone to get larger or more fibroids with more severe symptoms. There are several modifiable and non-modifiable risk factors influencing the development of this disease. These include age, race, genetic predisposition, the onset of menarche (first menstruation) and menopause (last menstruation), infertility, and other diseases like diabetes, polycystic ovary syndrome. The modifiable risk factors are related to lifestyle and diet. Obesity, unhealthy diet, stress, alcohol and caffeine consumption, low physical activity, low vitamin D levels and hormone replacement therapy are some of the most important risk factors that can be influenced by some lifestyle changes. Genetics There is a genetic predisposition to leiomyomas. It can develop as part of an autosomal dominant disease - hereditary leiomyomatosis and renal cell cancer. This condition results from an inherited mutation of the FH gene (fumarate hydratase), which is an enzyme involved in the Krebs cycle. Sometimes only one copy of the gene is affected, but the disease develops due to mutations of the second copy in certain cells throughout life. More commonly it presents as a disease with multifactorial inheritance and multiple genes can be affected. Signs & Symptom A lot of cases of uterine leiomyomas are asymptomatic. The fibroids can be solitary or multiple, they can grow slowly or rapidly, remain the same or shrink in size. These growths can develop within the wall of the uterus, inside the main cavity of the organ, or even on the outer surface. We can divide the symptoms into 3 categories: abnormal uterine bleedings (heavy or prolonger periods, menstrual cramps), symptoms related to the physical presence of the growths (constipation, frequent urination, lower back pain, pelvic pain or pressure, pain during sex, etc) and reproductive dysfunction (infertility, miscarriage, pregnancy complications, etc). Diagnosis Uterine leiomyomas are frequently found during a routine pelvic examination. Pelvic ultrasound is performed to assess the size and location of the fibroids. Additional imaging examinations can be performed, like MRI, CT, etc. Therapy There are several treatment options for uterine fibroids. In case a woman does not experience any symptoms or only experiences mild symptoms, monitoring the progression is sufficient. There are various medications that can shrink the fibroids but not eliminate them completely. Some non-invasive and invasive procedures can remove the fibroids but the only permanent solution is the removal of the uterus (hysterectomy). Prevention There are several ways to influence the development of uterine fibroids, mostly through lifestyle modifications. It can be beneficial to change your diet: lower intake of red meat, caffeine, alcohol, and higher intake of fish, green vegetables, fruit, and vitamin D. Another protective factor can be high parity (3 or more deliveries) and breastfeeding. In the case of pregnancy, it’s important to monitor the fibroids as they can grow due to hormonal changes. Prognosis Uterine fibroids can either shrink (can happen after menopause or after pregnancy), grow (rapidly or slowly), or stay the same. Several complications may develop. Due to heavy or prolonged periods, there can be a drop in the number of red blood cells (anemia) and you can experience fatigue, weakness, dizziness or paleness. Fibroids can also lead to infertility, pregnancy loss, preterm delivery, etc. Infrequently, a submucosal leiomyoma will prolapse through the cervix and present with a mass, bleeding, and possible ulceration or infection. Recommendations If you experience back pain, severe menstrual cramps, sharp stabbing pains in your abdomen, and even pain during sex, visit your gynecologist Improve your health by maintaining a healthy diet (high in fish, vitamin D, green vegetables, etc.) Lower consumption of red meats, caffeine, and alcohol It’s beneficial to lose weight in case of obesity

### Evening Cortisol

- URL: https://macromo.com/blog/blood-metabolic-health/evening-cortisol
- Published: 2023-09-06
- Category: blood-metabolic-health
- Author: Barbora Hamernikova

About Cortisol Cortisol, often referred to as the "stress hormone," is produced by the adrenal glands and plays a pivotal role in managing stress, metabolism, and immune responses. It also helps regulate blood sugar and inflammation. Its levels fluctuate throughout the day due to our circadian rhythm. Abnormal levels can suggest health issues like chronic stress or adrenal disorders. What should you know about Evening Cortisol? Evening cortisol levels are highly influenced by chronic stress and sleep quality. When not within the optimal range, it can disrupt the body's natural rhythms, leading to difficulty falling asleep, sleep disturbances, fatigue, and body weight fluctuations. Prioritizing relaxation techniques and improving sleep hygiene are essential to have it in healthy levels and improve your overall well-being. Recommendations Tracking daily cortisol levels can aid in identifying imbalances in stress response, sleep patterns, and metabolic health. It can guide lifestyle adjustments, signal when to seek medical attention. It is also advisable to retest after implementing the changes meant to reduce your stress, to see whether they were actually effective.

### Afternoon Cortisol

- URL: https://macromo.com/blog/blood-metabolic-health/afternoon-cortisol
- Published: 2023-09-06
- Category: blood-metabolic-health
- Author: Barbora Hamernikova

About Cortisol Cortisol, often referred to as the "stress hormone," is produced by the adrenal glands and plays a pivotal role in managing stress, metabolism, and immune responses. It also helps regulate blood sugar and inflammation. Its levels fluctuate throughout the day due to our circadian rhythm. Abnormal levels can suggest health issues like chronic stress or adrenal disorders. What should you know about Afternoon Cortisol? Afternoon cortisol levels are a crucial biomarker influenced by chronic stress and poor sleep quality. Deviations from the normal range can lead to imbalances that affect energy levels, weight and overall well-being. Lifestyle modifications such as stress reduction through relaxation and adequate sleep are essential to maintain optimal afternoon cortisol levels and promote better health. Recommendations Tracking daily cortisol levels can aid in identifying imbalances in stress response, sleep patterns, and metabolic health. It can guide lifestyle adjustments, signal when to seek medical attention. It is also advisable to retest after implementing the changes meant to reduce your stress, to see whether they were actually effective.

### Morning Cortisol

- URL: https://macromo.com/blog/blood-metabolic-health/morning-cortisol
- Published: 2023-09-06
- Category: blood-metabolic-health
- Author: Barbora Hamernikova

About Cortisol Cortisol, often referred to as the "stress hormone," is produced by the adrenal glands and plays a pivotal role in managing stress, metabolism, and immune responses. It also helps regulate blood sugar and inflammation. Its levels fluctuate throughout the day due to our circadian rhythm. Abnormal levels can suggest health issues like chronic stress or adrenal disorders. What should you know about Morning Cortisol? Morning cortisol levels outside the reference range often indicate chronic stress and inadequate or poor quality sleep. In some cases, there may be underlying health problems that require medical consultation. However, if it is a reaction to stress and inadequate sleep, these circumstances can be addressed by lifestyle modification. Recommendations Tracking daily cortisol levels can aid in identifying imbalances in stress response, sleep patterns, and metabolic health. It can guide lifestyle adjustments, signal when to seek medical attention. It is also advisable to retest after implementing the changes meant to reduce your stress, to see whether they were actually effective.

### Gastroesophageal reflux disease

- URL: https://macromo.com/blog/diseases-risks/gastroesophageal-reflux-disease
- Published: 2023-09-06
- Category: diseases-risks
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: NCAM1 The gene NCAM1 has been associated with Gastroesophageal reflux disease in a GWAS study. About Gastroesophageal reflux disease (GERD) Gastroesophageal reflux disease (GERD) is characterized by stomach contents flowing back into the food pipe (esophagus). The underlying cause is not always clear but can include incomplete closing of the lower esophageal sphincter or specific food and drink habits. Most people feel this as a burning sensation behind their chest wall (heartburn) or acidic taste in their mouth in the morning. Why should I treat this condition? Besides uncomfortable symptoms like heartburn, acidic mouth taste, cough, or difficulties swallowing, the backwash can irritate and damage tissue. Over years without treatment, it can cause it to transform into precancerous lesions or even cancer. Recommendations Most people can manage GERD without the need for medical intervention through simple lifestyle modifications. Avoid lying down directly after eating. Reduce your consumption of coffee, alcohol, and food triggering your symptoms, as well as stick to having light meals and small portions.

### Resting Heart Rate

- URL: https://macromo.com/blog/fitness-and-sport/resting-heart-rate
- Published: 2023-09-06
- Category: fitness-and-sport
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: MYH6,CD46,ACHE Genetic variations in the gene MYH6 have been associated with sick sinus syndrome. GWAS study identified several loci associated with heart rate, including the gene CD46 . GWAS study identified several loci associated with heart rate, including the gene ACHE . About Resting heart rate Heart rate is the number of times your heart beats each minute. Normally this ranges between 60 and 100 times per minute in adults. When your heart rate is too fast (>100), it is called tachycardia and if it is too slow, it is called bradycardia (<60). All three rates can be physiologic. What if my resting heart rate is constantly too high or low? Long-term deviations in your heart rate from normal values should be investigated by a doctor (general practitioner, cardiologist). They might be a sign of heart diseases or systemic conditions of the body like thyroid gland disorders, anemia, anxiety, or infections, especially if they arise together with other symptoms. Recommendations Deviations of your heart rate are most often normal - not every person has the same resting heart rate. It might even change according to your environment. Reducing your stress can alleviate symptoms of tachycardia. On the other hand bradycardia could be a sign of being relaxed or in good physical shape, athletes tend to have lower resting heart rates.

### Endometrial Cancer

- URL: https://macromo.com/blog/cancer-risks/endometrial-cancer
- Published: 2023-09-06
- Category: cancer-risks
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: ARID1A ARID1A gene has been linked to the pathogenesis of various cancer types, including endometrial cancer. About Endometrial Cancer Endometrial cancers are the most common cancers of the female reproductive tract. Most are hormone-depended arising on the base of high amounts of unopposed estrogen as seen around menopause (no counter acting progesterone). These tumors typically have a good prognosis. Hormone-independent neoplasms tend to have a genetic background (e.g., TP53 mutations). What puts me at risk of developing endometrial cancer? Besides genetic mutations, the following factors increase your likelihood of getting this cancer: Early first period, late menopause, polycystic ovary syndrome, not having had kids, no breastfeeding, the use of tamoxifen or estrogen-only hormone therapy, obesity, high age, estrogen producing tumors. Recommendations Taking oral contraceptives for more than 10 years reduces your risk for endometrial cancer by 50 % (note: oral contraceptives are associated with other health issues). Having had breastfed children, as well as following a healthy diet, doing regular exercise, and maintaining a normal BMI reduces your too. Should you notice heavy, prolonged and/or irregular vaginal bleeding and discharge you should consult your gynecologist early.

### Achromatopsia

- URL: https://macromo.com/blog/family-planning/achromatopsia
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Achromatopsia Achromatopsia is characterized by a partial or total absence of color vision. People with complete achromatopsia cannot distinguish any colors. Milder form of the condition is an incomplete achromatopsia with limited color discrimination. Mutations in two genes, CNGA3 and CNGB3 , are found in the majority of cases. Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation.

### Hemophilia

- URL: https://macromo.com/blog/family-planning/hemophilia
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Hemophilia Hemophilia is an inherited bleeding disorder, linked to chromosome X, that slows the blood clotting process (due to the partial or total deficiency of a clotting factor). It manifests in men (XY), but women are carriers (XX). The symptoms range from mild to severe, and there are two types of hemophilia, hemophilia A and B, caused by mutations in the genes F8 and F9 . Treatment involves replacing the clotting factor on a regular schedule. Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

### Galactosemia

- URL: https://macromo.com/blog/family-planning/galactosemia
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Galactosemia Galactosemia is a group of inherited autosomal recessive disorders, resulting from a defect of galactose metabolism (a sugar contained in milk). Symptoms and severity depend on what gene is affected ( GALE, GALT, GALK1 ). The most common and severe is “Classical galactosemia” ( GALT gene), diagnosed in newborns. Strict diet needs to be followed. Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

### Wilson Disease

- URL: https://macromo.com/blog/family-planning/wilson-disease
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Wilson Disease Wilson disease is a monogenic disorder affecting copper metabolism. It is caused by mutations in the ATP7B gene. Early diagnosis is essential to prevent hepatic and systemic complications. Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

### Long QT Syndrome

- URL: https://macromo.com/blog/diseases-risks/long-qt-syndrome
- Published: 2023-09-06
- Category: diseases-risks
- Author: Hana Voberkova

Observed genes Polygenic score Influential genes: NOS1AP Variations in the NOS1AP gene have been associated with the QT interval duration and an increased risk of LQTS. Overview Long QT syndrome represents a heterogeneous family of cardiac disorders affecting the heart’s electrical activity. It is classified as channelopathy, a disease characterized by a change in the flow of ions through the cell membrane. In the heart, this movement of particles (electrically charged particles of sodium, calcium, potassium, and chloride) through ion channels generates the cardiac action potential - an electrical signal, which propagates through the cells to induce a contraction of the heart - and is, therefore, the cornerstone of the heart’s electrical activity. [4] Fig 1: Long QT interval | Cleveland Clinic In LQTS, the cardiac conduction system takes longer to recharge after each electrical signal, and therefore the heart is more likely to develop ventricular arrhythmias. [4] To be precise, LQTS is known to be associated with a characteristic, life-threatening type of cardiac arrhythmia called torsades de pointes . [1] It is, in fact, a polymorphic ventricular tachycardia, also known as twisting of the points for its characteristic shape seen on an ECG. In this arrhythmia, the ventricles beat rapidly, chaotically, and out of sync. This results in insufficient ventricular contractions and therefore less blood leaving the heart. The lack of oxygenated blood flowing to the brain causes a sudden loss of consciousness, often without any warning. The episode usually terminates spontaneously, if not, fainting may be followed by a full-body seizure. If the dangerous rhythm is not corrected, life-threatening ventricular fibrillation (during which the ventricles merely quiver instead of contracting and the heart is unable to pump blood at all) can occur. This then results in cardiac arrest. [3] Fig 2: Torsades de pointes | medicinehack.com As already mentioned, most of the arrhythmias associated with LQTS are ventricular tachyarrhythmias, but others such as bradycardia, atrioventricular (AV) block, and atrial arrhythmias may occur rarely. [7] Long QT syndrome is often divided into two big categories: congenital and acquired. CONGENITAL long QT syndrome applies to those who have been born with the condition. To date, more than 17 genes and hundreds of mutations connected to the syndrome have been described. [1] Congenital LQTS can arise from a variety of genetic variants and combinations and therefore sometimes has different typical features. All these variants are united by their effect on ion channels and QT interval length. Based on the differences between the variants and their genetic background, numerous clinical subtypes have been described. [6] Romano-Ward syndrome is by far the most common form (accounting for up to 99% of cases). It is inherited in an autosomal dominant manner and is characterized by a disturbance of the electrical activity of the heart without the involvement of other organs. [6] Jervell and Lange-Nielsen syndrome is less common. Inheritance is autosomal recessive and is characterized by a combination of the extremely prolonged QT interval and congenital deafness. [6] Anderson-Tawil syndrome is another rare form, characterized by a prolonged QT interval, periodic paralysis, and facial and skeletal abnormalities. It is also an autosomal dominant form. [6] Timothy syndrome, another very rare variant, is in addition to a long QT interval associated with abnormalities of the heart structure, syndactyly, and autism spectrum disorder. It is also an autosomal dominant form. [6] ACQUIRED long QT syndrome usually results from pharmacological therapy. More than 100 drugs are known to prolong the QT interval in otherwise healthy people. Although this group is separate from the hereditary form, it is thought that they may overlap in some cases because patients' sensitivity to these drugs may also be related to genetic predispositions. Furthermore, cases of drug-related LQTS representing a form of congenital LQTS in which a mutation in one of the genes is clinically hidden until the patient is exposed to a specific drug or other predisposing factor have been described as well. [2, 3] See the table below with the most frequent medications in question. Certain mineral imbalances in the body and other underlying conditions may affect the QT interval as well: Low potassium level (hypokalemia) [3] Low calcium level (hypocalcemia) [3] Low magnesium level (hypomagnesemia) [3] COVID-19 infection [3] Prevalence & Risk factors Unlike other less common channelopathies, the estimated prevalence of congenital LQTS is at least 1 in 2000. This prevalence is based on a study of 44,000 newborns that combined ECG findings and genetic testing, and refers to newborns who are positive for both a genetic variant and a truly prolonged QT interval. [7] Based on available data and statistics, the risk of developing congenital or acquired long QT syndrome or its symptoms increases in the presence of the following: [2, 3, 4, 8] Gender - men are at higher risk during childhood and women from teenage life onward [8] Advanced age [2] Underlying heart disease [2] A clinical history of cardiac arrest and/or unexplained syncope [3, 8] First-degree relative with LQTS [3] Using medications known to affect the QT interval [3] Excessive vomiting, diarrhea, and eating disorders which can cause electrolyte imbalances [3] Family history of unexplained sudden death or syncopes [4] Congenital deafness [4] Impaired hepatic and/or renal function [2] Postpartum period [10] Genetics Long QT interval syndrome is an autosomal dominant disorder (only one dominant allele is sufficient to cause the disease) caused by mutations in 1 of at least 17 different genes encoding ion channels in the membranes of heart muscle cells. The presence of more than one mutation usually leads to more severe symptoms, and there are also assumptions and hypotheses that the risk increases when first-degree relatives are affected. In addition, compound heterozygous (two mutations within a single gene), digenic (mutations in two different genes), and homozygous (same mutation in both copies of a gene) alleles are also considered to cause LQTS. [5] More than 1400 gene variants associated with LQTS have been described; however, the most likely causative genes include KCNQ1, KCNH2 , and SCN5A , which contribute to 75% of all cases and have been discovered more than two decades ago. Mutations in minor susceptibility genes are thought to account for an additional 5%. The rest of the patients with a clinical diagnosis of congenital LQTS are referred to as either genetically elusive LQTS or genotype-negative LQTS, as their gene mutations are unknown and yet to be described. [5], [12, 13] Currently, at least 15 genes for autosomal dominant congenital Romano-Ward type LQTS and two genes for autosomal recessive forms of Jervell and Lange-Nielsen syndrome have been localized. The most common single nucleotide polymorphisms (SNPs) were identified in the NOS1AP, KCNQ1, KCNH2, SCN5A , or KCNJ2 genes. [12] Genetic testing allows us to detect whether you have the predisposition to develop this disease and therefore directs us to take steps toward prevention, monitoring, and possible treatment options. We can help you with all of this here, in Macromo. For evaluation, we use polygenic risk scores and causative evidence-based genetic variants. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms LQTS can occur at any time during a person's life. In many individuals, it can also persist throughout life in an asymptomatic form. Clinical episodes are often triggered by specific events such as exercise (especially swimming and diving), intense emotions, and acute excitement (in the case of sudden awakening from sleep by an alarm clock, telephone, thunder, etc.). [7, 8] The commonly described symptoms are mostly associated with ventricular tachycardia and torsades de pointes. These are: Warning signs like lightheadedness, heart palpitations, weakness, or blurred vision Fainting (syncopes) Seizures Sudden cardiac death Because seizures in ventricular arrhythmias are still relatively common, LQTS is still often misdiagnosed as epilepsy. [8] Diagnosis To date, the most common tests used for the diagnosis of LQTS are: ECG Exercise stress test Holter and event monitor (devices recording ECG for a longer or a specific period of time) Genetic testing Clinical history and family history contribute to the final diagnosis as well. [3] Therapy Treatment options for the LQTS differ depending on whether it is a congenital or acquired form. The acquired form can often be reversed when the underlying cause is addressed and eliminated. This can be done in various ways - medications can be stopped, electrolytes can be supplied intravenously, a pacemaker can be implanted, etc. The treatment tactics of congenital LQTS are different (because of the different pathophysiology). Prevention Regardless of the genetic variant, age, and previous clinical history, all patients with congenital LQTS should follow the general recommended precautions. These include avoiding medications with the potential to prolong QT, replacing electrolytes after vomiting and diarrhea, and reducing fever whenever appropriate. [9] Arrhythmias in congenital LQTS are also often triggered by certain things (as mentioned above). These often include intense exercise, loud / sudden noises, or diving into cold water. Avoiding these triggers as much as possible can help reduce the risk of potential complications. [10] With regular health checkups and good communication with your doctor, you can also prevent some of the health problems that lead to some types of acquired LQTS. [3] Specific precautions are, however, hard to determine as the etiology spectrum is very wide and variable. Prognosis The prognosis of treated patients (especially patients on beta-blockers) is generally good. If an episode of torsade de pointes occurs, it usually terminates spontaneously without severe complications. It is estimated that only 4-5% of cardiac events are fatal. High-risk patients who have survived cardiac arrest or keep experiencing recurrent arrhythmias despite treatment with beta-blockers have a significantly increased risk of sudden cardiac death. These patients are indicated for treatment with an ICD, which significantly improves their prognosis. [11] Recommendations Find out which sports are safe. Avoid performing physical activity (especially swimming) alone. [3] Eliminate possible triggers by lowering the volume of electronic devices that may startle you (especially in your sleep). [3] Avoid drugs that are known to prolong the QT interval. If you are unsure, consult your doctor. If you are diagnosed with LQTS, always consult your cardiologist for new medications and dietary supplements. [3] Get regular health checkups. [3]

### Sickle Cell Anemia

- URL: https://macromo.com/blog/family-planning/sickle-cell-anemia
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Sickle Cell Anemia Sickle cell anaemia is one of the most common monogenic diseases in the world. It is an autosomal recessive disorder caused by mutations in the HBB gene. It is characterized by the presence of sickle shaped red blood cells in the bloodstream. They may interact with other cells and block blood flow in the capillaries. Clinical manifestations evolve with age and are very variable. Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

### Pendred Syndrome

- URL: https://macromo.com/blog/family-planning/pendred-syndrome
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Pendred Syndrome Pendred syndrome is an autosomal recessive disorder usually characterized by hearing loss in both ears and enlargement of the thyroid gland, but with its normal function (goiter). The symptoms usually occur right after the birth or within a few days. More than 50 % of cases are caused by pathogenic mutations in the SLC26A4 gene, and the symptoms can range from mild to severe. Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

### Usher Syndrome Type I, II and III

- URL: https://macromo.com/blog/family-planning/usher-syndrome-type-i-ii-and-iii
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Usher Syndrome Type I, II and III Usher syndrome is a rare genetic disease, affecting both hearing and vision. There are three types: I, II, and III, with different severity and the age when symptoms appear. It is an inborn disease associated with at least 9 genes, but the diagnosis is usually done later in life. The treatment lies in helping people to manage their vision, hearing, and balance problems. Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

### Leucinosis (Maple Syrupe Urine Disease)

- URL: https://macromo.com/blog/family-planning/leucinosis-maple-syrupe-urine-disease
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Leucinosis (Maple Syrup Urine Disease) Leucinosis is an inborn error of metabolism. The body is unable to process certain amino acids (leucine, isoleucine and valine), causing a build-up of substances in the urine and blood. The sweet-smelling urine is one of the characteristic signs. Treatment consists of a low-protein diet and monitoring, but it may be recommended to take medications too. There are five clinical variants, which differs in severity. When diagnosed early, clinical outcomes are generally good. Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

### Obstructive Azoospermia

- URL: https://macromo.com/blog/family-planning/obstructive-azoospermia
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Obstructive Azoospermia OA can be a result of congenital bilateral absence of the vas deferens (CBAVD) associated with CFTR gene mutations (also affected in cystic fibrosis). It is characterized by the absence of spermatozoa in the ejaculate. It can be classified as obstructive and non-obstructive azoospermia. OA is the result of physical blockage and it can be present in any zone between the testis and the ejaculatory ducts. However, genetic testing and microsurgery combined with assisted reproductive technology (ART) represents a solution. Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

### Congenital Hyperinsulinism

- URL: https://macromo.com/blog/family-planning/congenital-hyperinsulinism
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Congenital Hyperinsulinism Congenital hyperinsulinism is a disease where insulin (hormone that helps control blood sugar) in secreted in abnormally high levels, it causes frequent episodes of low blood sugar, even after eating. It is caused by genetic changes, the most commonly affected gene is ABCC8 (in about 45% of the cases). Two options of treatment are known: medical therapy and surgical intervention. Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

### Polycystic Kidney Disease

- URL: https://macromo.com/blog/family-planning/polycystic-kidney-disease
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Polycystic Kidney Disease This autosomal recessive disease is caused by mutations in the PKHD1 gene and affects mainly the kidneys, but other organs can be also affected (e. g. liver). Present cysts interfere with kidneys proper function. It is often associated with enlarged kidneys, hypertension, or hematuria. Typically, the disease is manifested before birth or in childhood, however, recessive form of this disease is quite rare in comparison to the autosomal dominant form. Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

### Primary Hyperoxaluria

- URL: https://macromo.com/blog/family-planning/primary-hyperoxaluria
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Primary Hyperoxaluria Primary hyperoxaluria is an autosomal recessive disorder. A substance called oxalate is produced excessively and it later combines with calcium and forms calcium oxalate, the main component of kidney stones. There are three types of primary hyperoxaluria (PH I, II and III). It is treatable when recognized early (supplementation with vit. B6, lithotripsy or specialized treatment in severe stages). Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

### Canavan Disease

- URL: https://macromo.com/blog/family-planning/canavan-disease
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Canavan Disease Canavan disease is a rare hereditary disorder caused by mutations in ASPA gene. It belongs to the group of leukodystrophies and is associated with the defects in nerve signaling. There are two forms: Neonatal (severe) and Juvenile (mild). It is most common among Ashkenazi Jewish but has been diagnosed in many ethnic groups. Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

### Fanconi Anemia

- URL: https://macromo.com/blog/family-planning/fanconi-anemia
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Fanconi Anemia Fanconi anemia is a rare autosomal recessive disorder that is caused by inactivation of one of at least 22 genes. Products of those genes have important role in DNA reparation during DNA replication. This disease affects many parts of the body and the diagnosis is based on the presence of the symptoms, clinical exams and genetic testing. Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

### Cystic Fibrosis

- URL: https://macromo.com/blog/family-planning/cystic-fibrosis
- Published: 2023-09-06
- Category: family-planning
- Author: Anna Fiserova

About Cystic Fibrosis It is an inherited disorder, characterized by the excessive production of thick mucus. Cystic fibrosis is caused by mutations in the CFTR gene, that disrupts ion channel function at certain epithelial surfaces, resulting in the mucus buildup. The disease affects respiratory, reproductive or digestive system. Treatment lies in airway clearance, medications or surgery (only in advanced states). Recommendations Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

### Sleep Time (Chronotype)

- URL: https://macromo.com/blog/sleep-and-wellness/sleep-time-chronotype
- Published: 2023-09-06
- Category: sleep-and-wellness
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: RGS16,HCRTR2,PDE10A A variant in RGS16 gene has been found to have a strong association with the tendency towards morningness. The HCRTR2 gene is connected to the regulation of sleep. It is associated with characteristics such as daytime napping and a preference for morning activity. Thie PDE10A gene was included in a group of well-established circadian rhythm genes in a genome-wide study focused on chronotype. About Sleep Chronotype The sleep chronotype is the natural preference of the human body to sleep at a certain time. In addition to influencing sleep and wake times, our chronotype also determines our schedule of productivity and focus during the day. What affects your sleep chronotype? Your chronotype depends on a multitude of factors, including your genetics, age, and sex. According to some studies, younger adults and teens tend to be more likely evening types while older adults more likely identify with a morning chronotype. This genetic results describes only your inborn genetic predisposition to a chronotype. More about sleep in our articles How to Increase Deep Sleep? 18 Tips for Better Sleep How to Sleep Better? Quality Matters Recommendations While you cannot change your chronotype entirely, because to a significant extent it is hardcoded to your body’s biological and genetic factors, you can at least take up some habits that can shift it towards your liking. Try to gradually change your bedtime towards your preferences and also try to use an alarm clock that wakes you up with light. Our bodies are very sensitive to light when waking up and even when falling asleep. Avoid blue light before bed, to avoid interrupting your body’s production of melatonin.

### Lactose Intolerance

- URL: https://macromo.com/blog/diseases-risks/lactose-intolerance
- Published: 2023-09-06
- Category: diseases-risks
- Author: Yevhenia Rakhmankina

Summary Lactose intolerance is a common digestive disorder affecting lactose's ability to digest. It leads to abdominal symptoms like pain, cramps, bloating, gas, diarrhea, nausea, and vomiting after consuming dairy products. Overview Lactose intolerance is a common digestive disorder that affects the ability to digest lactose, a sugar found in milk and other dairy products. It is caused by a deficiency of lactase, an enzyme produced by the small intestine that breaks down lactose into simpler sugars that can be easily absorbed into the bloodstream. The condition affects about 65% of the world's population, and certain ethnic groups, such as Asian, African, Hispanic, and Native American populations, are more susceptible. Age, family history, certain medications, and gastrointestinal surgery are some risk factors that increase the likelihood of developing lactose intolerance. There are various types of lactose intolerance, including primary, secondary, congenital, and developmental. Common symptoms include abdominal pain, cramps, bloating, gas, diarrhea, nausea, and vomiting. Several diagnostic tests are available to confirm the condition, and although there is no cure, dietary changes, lactase supplements, and probiotics can help manage the symptoms. Prevalence & Risk factors Lactose intolerance is a common condition affecting 65% of the population on average. It is rare in children younger than five years, and most often seen in adolescents and young adults. [1] Lactose intolerance is more common in certain ethnic groups, such as Asian, African, Hispanic, and Native American populations, with a prevalence of up to 80% in some of these groups. Some American Indians and East Asians even reach a prevalence of 100%. It is less common in people of European descent, with a prevalence of around 2-15%. [2, 3] Several risk factors can increase the likelihood of developing lactose intolerance. These include: Age : Lactose intolerance is more common in adults than in children, as the ability to produce lactase, the enzyme needed to digest lactose, decreases with age. Ethnicity : Lactose intolerance is more common among people of African, Asian, Hispanic, and Native American descent than among people of European descent. Family history : Lactose intolerance tends to run in families, and people with a family history of lactose intolerance are more likely to develop the condition. A disease affecting the small intestine : Certain medical conditions, such as Crohn's disease, celiac disease, and radiation enteritis, can damage the lining of the small intestine, reducing lactase production and increasing the risk of lactose intolerance. Gastrointestinal surgery : Surgery involving the stomach or intestines can also increase the risk of lactose intolerance. Premature birth : Premature infants may have lower lactase levels and may be at a higher risk of developing lactose intolerance. Certain medications : Some medications, such as antibiotics and chemotherapy drugs, can disrupt the balance of bacteria in the gut and reduce lactase production. Types Lactose intolerance is caused by a deficiency of lactase, an enzyme produced by the small intestine that breaks down lactose into simpler sugars that can be easily absorbed into the bloodstream. There are four leading causes of lactase deficiency: Primary Lactase Deficiency : This is the most common reason and occurs gradually as people age. Enzyme activity starts to decline in infancy, and symptoms appear in the teenage years or early adulthood. Around 70% of the population is affected by primary lactase deficiency; however, some of them are asymptomatic. [4] Secondary Lactase Deficiency : Some conditions affecting the small intestine can damage the intestinal lining, leading to lactase deficiency. These include intestinal infection, celiac disease, bacterial overgrowth, and Crohn's disease. [5] Congenital Lactase Deficiency : This is a rare condition in which a person is born without or with deficient lactase enzyme levels. It is inherited in an autosomal recessive pattern and presents in newborns after milk ingestion. [6] Developmental Lactase Deficiency : Premature infants may not have fully developed intestines to produce lactase enzymes, which results in lactase deficiency. This improves with age as the intestines mature. [7] Genetics While it can be caused by a number of factors, including disease, genetics also plays a role. People with lactose intolerance often have a genetic variation that affects the expression of the lactase gene (LCT), which can result in reduced or absent activity. However, lactose intolerance can be managed through dietary changes or by taking lactase supplements. [13] Lactose intolerance is a complex genetic trait influenced by both genetic and environmental factors. The primary genetic factor is the LCT gene, which codes for lactase, the enzyme responsible for breaking down lactose. The expression of this gene is regulated by a nearby gene, MCM6 , which controls lactase production in the small intestine. Variations in this enhancer region can affect lactase expression, and people with lactose intolerance often carry specific variants that result in reduced or absent lactase activity. In addition, other genetic factors may contribute to lactose intolerance susceptibility, such as variations in genes that affect lactase stability or lactose absorption. [14, 15] Additionally, lactase persistence, the ability to digest lactose beyond childhood, tends to decrease with age in most populations due to declining lactase activity. [16] Signs & Symptoms The signs and symptoms of lactose intolerance can vary from person to person, depending on the amount of lactose consumed and the severity of lactase deficiency. Some common symptoms include: Abdominal pain and cramps Bloating and gas Diarrhea Nausea and vomiting Headaches Symptoms usually appear within 30 minutes to 2 hours after consuming dairy products. [8] Diagnosis You might suspect you are lactose intolerant based on the typical gastrointestinal symptoms after consuming dairy products. Several tests can be performed to confirm the diagnosis. These include: Lactose tolerance test : This test involves drinking a lactose solution and then measuring the glucose level in the blood over time. If the body cannot digest lactose, the glucose level in the blood will not rise as it should. [9] Hydrogen breath test : This test involves drinking a lactose solution and then measuring the amount of hydrogen gas in the breath over time. If the body cannot digest lactose, the bacteria in the colon will ferment the lactose, producing hydrogen gas that is expelled from the breath. [10] Genetic testing: Genetic testing can be used to identify gene mutations that are associated with lactose intolerance. Therapy There is no cure for lactose intolerance, but symptoms can be managed through dietary changes and lactase supplements. In the case of secondary lactose intolerance, the underlying condition should be treated. Some strategies to manage the symptoms of lactose intolerance include: Avoiding dairy products : People with lactose intolerance can avoid or limit dairy products or choose lactose-free or low-lactose alternatives. Taking lactase supplements : These supplements are available in pill or liquid form and can be taken before consuming dairy products to help digest lactose. Probiotics : Some studies have suggested that probiotics can improve lactose digestion and reduce symptoms in people with lactose intolerance. This is due to lactic acid bacteria that convert lactose into lactic acid instead of gas. [11] Prevention Lactose intolerance cannot be prevented, but people can reduce their risk by maintaining a healthy diet and avoiding unnecessary antibiotic use, which can disrupt the gut microbiome and lead to lactose intolerance. Prognosis Lactose intolerance is a chronic condition that does not usually cause serious health problems. A diet restricted in dairy products can cause calcium and vitamin D deficiency and lead to malnutrition and low bone mass. [12] Recommendations Consume lactose-free or low-lactose alternatives, such as soy milk or almond milk. Gradually increase lactose intake to improve tolerance: eat smaller portions and spread them throughout the day. Choose aged or hard cheeses, which typically contain less lactose. Ensure adequate intake of calcium and other nutrients found in dairy products, either through supplements or alternative food sources.

### Sleep Quality

- URL: https://macromo.com/blog/sleep-and-wellness/sleep-quality
- Published: 2023-09-06
- Category: sleep-and-wellness
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: TCF4,RGS6 While the direct association of TCF4 with insomnia is not well-established, its role in brain function indicates a potential link to sleep disturbances. Although main associations of the RGS6 gene are with depression, and anxiety disorders, disruptions could potentially affect sleep regulation. About Sleep Quality Sleep is an essential part of our lives. It helps us recover from our daily activities and stay mentally sharp. It's quality is defined as one's self-satisfaction with all aspects of the sleep experience and is influenced by many inner and outer factors. What affects your sleep quality? Psychological problems are often cited as affecting sleep quality the most, with stress, anxiety, depression, and the general feeling of sadness likely interfering with your sleep. However, some medical conditions and environmental factors may increase the risk of insomnia. Talk to your healthcare provider if you suspect having a sleeping disorder. Recommendations Make sure that your bedroom is dark, cool, and quiet so your mind can relax before going into deep sleep mode. Avoid caffeine, alcohol, or nicotine for six hours before bedtime. Also, avoid blue light from screens for about an hour before bedtime (TV, smartphones).

### Sleep Duration

- URL: https://macromo.com/blog/sleep-and-wellness/sleep-duration
- Published: 2023-09-06
- Category: sleep-and-wellness
- Author: Anna Fiserova

Observed genes Polygenic score Influential genes: PAX8 Through genome-wide association analysis, the PAX8 gene was identified as having an impact on sleep duration. About Sleep Length Sleep is an essential part of our lives. It helps us recover from everyday activities and maintain our mental balance. The optimal length of sleep varies by age group - healthy adults need 7 to 9 hours of sleep per night, while children and older individuals need more. What causes shorter sleep length? Stress, hormonal changes, shift work, excessive sleeping/day sleeping and irregular sleeping habits can all negatively affect the length and quality of your sleep. If you regularly sleep less than six hours but feel rested and your daytime functioning is not disrupted, it may be due to a condition called 'short sleep syndrome' (SSS). More about sleep in our articles How to Increase Deep Sleep? 18 Tips for Better Sleep How to Sleep Better? Quality Matters Recommendations The amount of sleep a person needs varies from person to person. However, if your sleep is too short and negatively affects your daily functioning, you should try to follow a regular sleep schedule, avoid stimulants (for example coffee) for several hours before bedtime, avoid daytime sleep and use your bed only for its intended activities. Maintain good sleep hygiene, which you can read more about on Macromo Insider.

### Sleep Depth

- URL: https://macromo.com/blog/sleep-and-wellness/sleep-depth
- Published: 2023-09-06
- Category: sleep-and-wellness
- Author: Anna Fiserova

Observed genes Polygenic score Influential genes: PAX8 A study has associated the PAX8 genetic variant with longer sleep duration, greater sleep efficiency, and greater daytime inactivity duration. About Sleep Depth Sleep is an essential part of our lives. It helps us recover from our daily activities and stay mentally sharp. As we sleep, our bodies cycle through phases of lighter and deeper sleep. Each sleep stage has a unique function and role in maintaining our brain's overall cognitive performance. What causes a lack of deep sleep? Sleep disorders, substance abuse (esp. stimulants like caffein, nicotine, ...), stress, and environmental factors may all contribute to a decrease in deep sleep. More about sleep in our articles How to Increase Deep Sleep? 18 Tips for Better Sleep How to Sleep Better? Quality Matters Recommendations Make sure that your bedroom is dark, cool, and quiet so your mind can relax before going to sleep. Avoid caffeine, alcohol, or nicotine for six hours before bedtime. Also, avoid blue light from screens for about an hour before bedtime (TV, smartphones).

### Male Pattern Baldness

- URL: https://macromo.com/blog/physical-predispositions/male-pattern-baldness
- Published: 2023-09-06
- Category: physical-predispositions
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: EDA2R, SRD5A2 Variations in the EDA2R gene have been linked to male pattern baldness, also known as androgenetic alopecia. Certain genetic variants of SRD5A2 have been associated with an increased risk of male pattern baldness. About Male Pattern Baldness The most common cause of hair loss in men is so-called male pattern baldness, which is caused by a combination of genetics and hormone levels. Partly responsible for hair loss is the male hormone dihydrotestosterone. What contributes to hair loss? Androgens (male sex hormones) are thought to decrease the length of a critical phase in the growth of hair (anagen stage). This leads to the formation of thin hair that isn’t anchored in the skin properly, tends to fall out earlier and can’t cover the scalp completely. Recommendations While genetics play an important role in hair loss, you can try some preventive measures, such as eating a diet rich in healthy proteins, Omega-3 fatty acids, fruits, and vegetables. If you notice a pattern of baldness, talk to a medical professional to determine a treatment regimen as early as possible.

### Genetic Height

- URL: https://macromo.com/blog/physical-predispositions/genetic-height
- Published: 2023-09-06
- Category: physical-predispositions
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: PAWR PAWR gene has been linked to the differens in heigth between Europeans and Americans. About Genetic Height 80 % of the final body height is estimated to be determined by your DNA. Nevertheless, environmental factors such as childhood diseases, nutrition, and even socioeconomic factors undoubtedly play a major role in your growth. What can contribute to the height loss? Loss of height is a natural part of aging, whether due to osteoporosis or other spinal diseases. On average, men can lose about 2.5 centimetres of height between the ages of 30 and 70, while women can lose up to 5 centimetres of height over the same period of time. Recommendations This genetic score serves only as a rough estimate of how your genetics have affected your height as an adult and how they affect the height of your children. The generally accepted formula used to predict final height (±10 cm) is [mother's height + (father's height ±13 cm)]/2. (+ for boys, - for girls).

### Earwax type

- URL: https://macromo.com/blog/physical-predispositions/earwax-type
- Published: 2023-09-06
- Category: physical-predispositions
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. About Earwax Ear wax (cerumen) is a waxy substance that ranges in color from brown to red and yellowish. The mix of secretions and dead skin cells does not only lubricate your ear canal, but also protects it from infections, dust, and irritation by water. Did you know? Earwax is linked to a person's origins. Dry earwax first appeared in Asia, thus Asian and Native American people are more likely to have dry earwax, while wet earwax is more common among other ethnicities. Recommendations Earwax is your ear's way of cleaning itself and does not need to be removed. However, if you still want to clean your ears, never use small sharp objects or ear candles. If earwax prevents you from hearing, see a doctor.

### Body Composition

- URL: https://macromo.com/blog/physical-predispositions/body-composition
- Published: 2023-09-06
- Category: physical-predispositions
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: FTO,MC4R The FTO gene has an established association with obesity. In particular, certain alterations in this gene have been observed to affect fluctuations in body mass index (BMI) and predisposition to obesity. Mutations in the MC4R gene are the most common monogenic cause of severe obesity. The MC4R receptor plays a role in regulating appetite and energy balance. About Body Composition The body composition report aims to quantify the genetic factors that contribute to the variability in how our bodies are shaped, including the distribution of fat and non-fat components of your weight. What to know about body composition In addition to tracking your body weight, it's important to know your body composition, which can tell us a lot more about your overall health. 30 to 50% of our total weight is usually skeletal muscle, while fat can make up anywhere from 10% to over 50%. Recommendations While differences in genetics can affect our body composition, the effect of training and determination combined with proper nutrition, is still likely much higher than the known effect of genetics.

### Strength Capacity

- URL: https://macromo.com/blog/fitness-and-sport/strength-capacity
- Published: 2023-09-06
- Category: fitness-and-sport
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: DYM1, HLA-DQA1, GDF5 Some research suggests that certain variations in the HLA-DQA1 gene may be associated with differences in muscle strength and power. Certain genetic variants in GDF5 have been associated with differences in muscle strength and power, While research on DYM and strength capacity is relatively limited, it is believed to have potential implications for muscle function and strength. About Strength Capacity Endurance is the ability to sustain a high level of physical activity for a long period of time, while strength is the ability to exert maximal force in a short period of time. This score determines how your genetics affect your strength type and your likely type of muscle fiber associated with it. What are the key aspects of strength? You can improve your response to strength-based activities by following different exercise types, such as explosive strength training (increases your ability to perform powerful movements in the minimal amount of time possible), maximal strength training (usually practiced by slow weight lifting), training for muscle size, and strength endurance training. Recommendations You can improve your response to strength-based activities by following different exercise types, such as explosive strength training (increases your ability to perform powerful movements in the minimal amount of time possible), maximal strength training (usually practiced by slow weight lifting), training for muscle size, and strength endurance training.

### Optimal Training Type

- URL: https://macromo.com/blog/fitness-and-sport/optimal-training-type
- Published: 2023-09-06
- Category: fitness-and-sport
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. About Optimal Training Type Each person responds to different types of exercise in an individual way influenced by genetics. Your optimal training type may determine the rate at which you respond to different kinds of exercise, which gives you the possibility to choose an activity type and level that matches your genetic profile. What to know about different types of exercise Strength training is designed to improve maximal performance and is usually based on short workouts of maximum intensity. In contrast, endurance training is based on a higher number of repetitions at a lower intensity. Examples of activities to improve endurance include walking, running, jogging, swimming and cycling. Recommendations While differences in genetics do affect the composition of the muscles in our bodies, the influence of training and dedication combined with proper nutrition is probably still much greater than the known influence of genetics. You should lead a healthy lifestyle primarily for your health, regardless of your weight.

### Risk of Anterior Cruciate Ligament Rupture

- URL: https://macromo.com/blog/fitness-and-sport/risk-of-anterior-cruciate-ligament-rupture
- Published: 2023-09-06
- Category: fitness-and-sport
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: DPP6 According to one GWAS study, the gene DPP6 has been linked to the Risk of Anterior Cruciate Ligament Rupture. About Anterior Cruciate Ligament Rupture The anterior cruciate ligament is the most injured ligament of the knee. It’s located within the joint cavity connecting the femur and tibia. The ligament is a crucial structure in providing stabilization of the knee by passively holding the knee together. What causes ACL injury? An ACL injury can happen as a result of getting hit hard on the side of the knee, overextension or twisting of the knee joint. Basketball, football, soccer, and skiing are the sports linked to this type of injury. Studies have shown a slight increased incidence in females. Recommendations There are many ways to prevent an ACL injury, but there is no way to cure it once it has occurred. The best you can do to decrease your risk of ACL injury by keeping the muscles surrounding your knees strong and flexible with a consistent workout routine.

### Risk of Achilles Tendon Injury

- URL: https://macromo.com/blog/fitness-and-sport/risk-of-achilles-tendon-injury
- Published: 2023-09-06
- Category: fitness-and-sport
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: MPP7 The gene MPP7 has been associated with an increased risk for Achilles tendon injury. About Achilles Tendon Injury The Achilles tendon is the largest and strongest tendon in the body, connecting the calf muscles to the heel bone and helping us to walk, run, jump, or stand on our toes. Achilles tendon rupture is a serious injury, requiring long-term treatment and rehabilitation usually lasting 3 to 12 months. What causes Achilles Tendon injury? Injury is mostly a result of overextension or sudden strong forces acting on the tendon. Sports like Tennis or Basketball, in which quick direction changes and acceleration/deceleration are a core part of the activity, are closely connected to those kinds of injuries. Poor physical condition, degenerative diseases and certain medications increase the injury risk. Recommendations Athletes should be aware of their increased genetic risk for Achilles tendon injuries, as this can help them prevent future injuries by adjusting their training program accordingly, such as getting enough rest and stretching before and after training.

### Muscle Regeneration

- URL: https://macromo.com/blog/fitness-and-sport/muscle-regeneration
- Published: 2023-09-06
- Category: fitness-and-sport
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. About Muscle Regeneration Muscle regeneration is a natural process that occurs in the body as a response to injury or damage to muscle tissue. It can be stimulated by exercise and nutrition and inhibited by certain factors such as age, disease, injury, and certain genetic mutations. What happens to damaged muscles? After exercise, there may be minor muscle damage, a decrease in substrate concentration and an accumulation of metabolic by-products (e.g. lactic acid). Recovery usually takes approximately 2 to 3 days. However, larger muscle injuries take a relatively long time to heal, are very painful, and can lead to chronic pain up to and including treatment. Recommendations Exercise is a great way to improve your health and well-being. However, after exercise, your muscles may be feeling sore and tired. Drink plenty of fluids, eat a healthy diet with enough protein, stretch before and after exercising and get enough sleep every night.

### Lactate Production

- URL: https://macromo.com/blog/fitness-and-sport/lactate-production
- Published: 2023-09-06
- Category: fitness-and-sport
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. About Lactate Production Sometimes your muscles need energy faster than they are supplied with oxygen. When there is a lack of oxygen (e.g. during exercise), glucose is metabolised into lactate instead of the usual pyruvate. The formation of lactate is an important process that allows our body to maintain energy production and therefore nutrition. What if your lactate production levels are higher than normal? Prolonged elevated levels of lactate may indicate an underlying medical condition, mostly linked to metabolic problems. It may signal that your body requires more oxygen than it’s provided with or can utilize, often in the case of diabetes, liver-, or kidney diseases, hear failure or poisoning. Recommendations See your doctor if you suspect a lactate production problem. If your healthcare provider rules out other potential conditions, you may be diagnosed with lactic acidosis, a higher-than-normal lactate production that is not linked to any other disease. Treatment options include bicarbonate supplements, IV fluids, oxygen, and sometimes, antibiotics.

### Endurance Capacity

- URL: https://macromo.com/blog/fitness-and-sport/endurance-capacity
- Published: 2023-09-06
- Category: fitness-and-sport
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. About Endurance Capacity Endurance is your body's capacity to sustain an exercise for an extended amount of time. It's made up of cardiovascular and muscular endurance; the first one refers to the ability of your heart and lungs to fuel your body with oxygen, while the latter indicates how long your muscles can work without getting tired. What are the benefits of high endurance capacity? Higher endurance capacity is linked to a number of benefits, besides the natural predisposition to being leaner. Scientific evidence suggests that higher levels of physical fitness may prevent cardiovascular, metabolic, and mental diseases, especially later in life. Recommendations Regular exercise has numerous health benefits, including boosting your energy levels and helping you sleep better at night. 150 minutes of exercise per week can strengthen your lungs and heart, thus boosting your endurance. Besides common exercise practices, yoga is known to boost your mental focus and physical endurance, too.

### Zinc

- URL: https://macromo.com/blog/nutrition-and-diet/zinc
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: CA1 The CA1 gene has been associated with zinc levels in a GWAS study. Zinc in our bodies Zinc is an essential mineral that is necessary for many functions of the human body. It is needed for maintaining a healthy immune system, wound healing, insulin production and neurological function. It also plays a large role in cell division, muscle growth and physical development. What happens if you don't get enough? Zinc deficiency can result in skin issues resembling eczema. However, the rash doesn't get better with creams or lotions. It may appear as cracked or glazed skin, especially around mouth and hands. A negative effect on the immune system, GIT and wound healing has also been observed. Recommendations Supplementing 15-30 mg of elemental zinc daily can improve immunity, skin condition or even blood sugar levels. Try to add zinc to your diet primarily in a natural way, by including foods such as nuts, legumes, seeds, meat and dairy products.

### Vitamin E

- URL: https://macromo.com/blog/nutrition-and-diet/vitamin-e
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: ZPR1,CYP4F2,SCARB1 ZPR1 gene encodes a protein that is believed to play a critical role in cell signaling and is important for the growth and proliferation of cells. The protein encoded by CYP4F2 is involved in the metabolism of fatty acids and the processing of other hydrophobic molecules. SCARB1 plays a crucial role in cholesterol homeostasis and has implications in cardiovascular health. What is Vitamin E? Vitamin E is one of the most important antioxidants. It helps maintain healthy skin, hair and eyesight, helps maintain a healthy immune system, promotes normal growth and development of cells and tissues, protects against certain cancers and helps lower cholesterol levels. What happens if you don't get enough? Vitamin E deficiency is a rare health problem that manifests as a weakened immune system, ovarian and testicular disorders that can lead to infertility, and muscle and nerve disorders. Recommendations The main sources of vitamin E include vegetable oils, nuts, seeds, soy, avocados and eggs. Dietary supplements containing vitamin E can also be taken, but they can never fully replace a varied diet.

### Vitamin D

- URL: https://macromo.com/blog/nutrition-and-diet/vitamin-d
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: NON-CODING Variations in the GC gene can influence the levels and activity of VDBP, potentially affecting the availability and distribution of vitamin D. CYP2R1 is responsible for converting vitamin D into its active form, so any change in this gene may affect the levels of Vitamin D. Variations in the CYP24A1 genes can impact the efficiency of vitamin D metabolism, leading to alterations in vitamin D levels. What is Vitamin D? Vitamin D is a fat-soluble vitamin that is essential for healthy bone development and structure, immunity and reducing levels of inflammation. The body synthesizes it from cholesterol when the skin is exposed to sunlight, but it is also possible to replenish the body's supply through food or dietary supplements. What happens if you don't get enough? Chronic vitamin D deficiency in children causes rickets, which results in bone deformities and growth disorders. In adults, osteoporosis occurs, leading to frequent fractures and associated pain. Symptoms of severe vitamin D deficiency include fatigue, frequent infections, muscle and joint pain, hair loss and depression. Recommendations The best way to get vitamin D is to stay in the sun, which can cover up to 90% of the recommended daily dose. At the same time, we must not forget to protect ourselves from harmful UV rays. Vitamin D can also be found in certain foods, such as eggs, oily fish and milk. If necessary, dietary supplements can also be considered.

### Vitamin C

- URL: https://macromo.com/blog/nutrition-and-diet/vitamin-c
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: SLC23A1,SLC23A3 SLC23A1 gene encodes a protein involved in the transport of vitamin C (ascorbic acid) into cells. SLC23A3 gene encodes a protein that functions as another vitamin C transporter. What is Vitamin C? Vitamin C, also known as ascorbic acid, is an important antioxidant that protects our cells from damage. It is an important component in the synthesis of collagen, a building protein that maintains the elasticity of soft tissues such as skin, bone, cartilage and blood vessels. It also plays a major role in the wound healing process. What happens if you don't get enough? Absolute deficiency can manifest itself as scurvy, which is almost non-existent nowadays. However, even a slight deficiency can lead to symptoms such as irritability, poor wound healing, mucous membrane bleeding, swollen gums, tooth loss and frequent infections due to lowered immunity. Recommendations Especially in autumn and winter, include vitamin C-rich foods such as blackcurrants, apples, pears, citrus fruits, brussels sprouts and cabbage in your diet. Vitamin C should be a part of our diet daily, as our bodies unfortunately cannot store it.

### Vitamin B9

- URL: https://macromo.com/blog/nutrition-and-diet/vitamin-b9
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. What is Vitamin B9? Vitamin B9, also known as folate or folic acid, is a water-soluble vitamin that plays an important role in DNA synthesis and cell division. It is very important during early pregnancy to prevent serious birth defects. It is also beneficial in the fight against atherosclerosis and depression. What happens if you don't get enough? Vitamin B9 deficiency can cause anemia and increase your risk of stroke and heart disease. During pregnancy it can result in severe congenital malformations of the child (spina bifida, anencephaly). Recommendations Foods rich in vitamin B9 include asparagus, avocado, broccoli, Brussels sprouts, cabbage, carrots, cauliflower and eggs. Consuming 400 micrograms of vitamin B9 per day can help prevent heart disease, stroke or certain cancers.

### Vitamin B6

- URL: https://macromo.com/blog/nutrition-and-diet/vitamin-b6
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: NBPF3 The NBPF3 gene, linked to NBPF3 hormone production, influences the removal of vitamin B6 from the body. What is Vitamin B6? Vitamin B6 is a water-soluble vitamin that is important for the metabolism of proteins, fats and carbohydrates, as it is crucial for converting nutrients into energy for our bodies. It is also a key player in brain development and maintaining a healthy nervous and immune system. What happens if you don't get enough? Vitamin B6 deficiency is rare. Not getting enough of it can lead to problems with the immune system, depression, skin issues, and anemia. Recommendations The human body cannot produce vitamin B6 on its own, so it is necessary to ensure sufficient intake of vitamin B6 through diet. Foods rich in vitamin B6 include bananas, potatoes, eggs, chicken breast, spinach, nuts, beans and avocados.

### Vitamin B12

- URL: https://macromo.com/blog/nutrition-and-diet/vitamin-b12
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: FUT2,TCN1,CUBN Variations in the FUT2 gene have been associated with levels of certain glycoproteins, which can affect the uptake of vitamin B12 from the intestine. What is Vitamin B12? Vitamin B12 is a water-soluble vitamin that is important for the function and development of brain and nerve cells, DNA formation and red blood cell synthesis. Adequate amounts of vitamin B12 in the body improve memory, increase concentration and reduce the risk of cardiovascular disease. What happens if you don't get enough? Vitamin B12 deficiency can cause weakness, fatigue, heart palpitations and shortness of breath due to the resulting anaemia (megaloblastic anaemia). Serious complications include nerve dysfunction in the spinal cord and periphery, as well as the development of psychiatric illness and dementia. Recommendations The required daily dose of vitamin B12 is covered by a normal diet in a healthy person. Foods rich in vitamin B12 are mainly of animal origin and include shellfish, beef liver, salmon, eggs and milk. It is hardly found in plant-based diets, so if you are vegetarian or vegan, be sure to supplement. In addition to dietary supplements, you can get it from fermented foods or in small amounts from seaweed.

### Vitamin A

- URL: https://macromo.com/blog/nutrition-and-diet/vitamin-a
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: FFAR4 According to a GWAS study, the FFAR4 gene has been associated with vitamin A levels. What is Vitamin A? Vitamin A is a fat-soluble vitamin essential for the growth and development of a healthy body. It's also important to vision, cell division, reproduction and immunity. What happens if you don't get enough? Vitamin A deficiency can cause vision problems such as night blindness. Furthermore, vitamin A deficiency can lead to dry skin and increase the severity of infections by affecting your immune system. Recommendations The human body cannot produce Vitamin A. Therefore, you should include vitamin A-rich foods in your diet. Vitamin A can be found in leafy green vegetables like kale, broccoli, and spinach and in yellow and orange vegetables like carrots, sweet potatoes, and pumpkins. Animal products high in vitamin A include liver, eggs, milk, cheese, and fish oil.

### Selenium

- URL: https://macromo.com/blog/nutrition-and-diet/selenium
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: CBS The CBS gene has been associated with selenium metabolism based on a GWAS​ study. About Selenium Selenium is nutritionally essential mineral that is crucial for reproduction, thyroid hormones and DNA synthesis and plays an important role for the immune system and protection from infections. Foods rich in animal protein are generally good sources of selenium. What happens if you don't get enough? Severe selenium deficiency is associated with two main diseases: Keshan disease, a heart disease, as well as Kashin-Beck disease, a kind of osteoarthritis. Both conditions are found mainly in Asian regions. It can also negatively affect the thyroid gland, the immune system, and the quality of semen. Recommendations Selenium is found in many foods including Brazil nuts, tuna, beef, eggs, garlic, mushrooms, sunflower seeds and more. Dietary supplements with selenium are also available, often in combination with vitamins C and E. Remember, however, that dietary supplements can never fully replace food.

### Phosphorus

- URL: https://macromo.com/blog/nutrition-and-diet/phosphorus
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: ALPL The ALPL gene has been associated with phosphorus levels in the body. About Phosphorus Phosphorus is a mineral that plays an important role in the human body. The main function of phosporus is in the formation and strengthening of bones and teeth. It's also needed for muscle contraction, a normal heartbeat and nerve signaling. What happens if you don't get enough? Phosphorus deficiency is a rather rare condition, that can lead to some dangerous consequences, such as muscle weakness, anemia, bone diseases, and bone pain, as well as an elevated risk of catching infections. The most severe complications include seizures, respiratory failure, and arrhythmias. Recommendations Phosphorus is found in many foods, such as dairy products, salmon, beef, pork, poultry, legumes, nuts and some vegetables. It is also available as a dietary supplement and can be taken in tablet or liquid form. Remember, however, that dietary supplements can never fully replace food.

### Omega 3 EPA

- URL: https://macromo.com/blog/nutrition-and-diet/omega-3-epa
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: FADS1, FADS2 The FADS1 gene is connected to the metabolism of several omega-3 fatty acids, including docosahexaenoic acid (DHA), eicosapentaenoic acid (EPA), docosapentaenoic acid (DPA), and their precursor alpha-linolenic acid (ALA). The FADS2 gene is closely associated with the metabolism of omega-3 and omega-6 fatty acids as well. About Omega 3 EPA Omega 3 EPA is a fatty acid found in most fish and seafood. It has been shown to reduce the risk of heart disease and stroke, among other health benefits. You may know it as a dietary supplement in the form of fish oil, which is a source of both Omega 3 EPA and DHA. What happens if you don't get enough? Omega 3 EPA deficiency can lead to hair changes, as well as to a whole range of other health issues. While it's uncommon to prescribe routine omega 3 tests, talk to your healthcare provider or take a blood test to determine your Omega 3 levels, if you suspect you might have a deficiency. Recommendations Omega 3 EPA can be consumed in foods such as salmon, tuna, trout, mackerel, sardines, anchovies, and herring.

### Omega 3 DPA

- URL: https://macromo.com/blog/nutrition-and-diet/omega-3-dpa
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: FADS1, FADS2 The FADS1 gene is connected to the metabolism of several omega-3 fatty acids, including docosahexaenoic acid (DHA), eicosapentaenoic acid (EPA), docosapentaenoic acid (DPA), and their precursor alpha-linolenic acid (ALA). The FADS2 gene is closely associated with the metabolism of omega-3 and omega-6 fatty acids as well. About Omega 3 DPA Omega 3 DPA is a type of fatty acid essential for many human body functions, that can be found in variety of foods and is recommended to consume on a daily basis. It has been found to be beneficial in the prevention of heart disease and has many other health benefits. What happens if you don't get enough? Omega 3 DPA deficiency can cause similar problems to the lack of other types of Omega 3 fatty acids. It's important to note that the deficiency of this nutrient can lead to dry skin and eyes, as well as serious heart and joint problems. Recommendations The best way for you to get this type of fatty acid is through diet and not through supplements. Foods like fish oil, salmon, mackerel, tuna, and sardines are all good sources of Omega 3 DPA which can be eaten in moderation. Consumption of Omega 3 fatty acids has been found to be beneficial in the prevention of heart disease and has many other health benefits.

### Omega 3 DHA

- URL: https://macromo.com/blog/nutrition-and-diet/omega-3-dha
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: FADS1, FADS2 The FADS1 gene is connected to the metabolism of several omega-3 fatty acids, including docosahexaenoic acid (DHA), eicosapentaenoic acid (EPA), docosapentaenoic acid (DPA), and their precursor alpha-linolenic acid (ALA). The FADS2 gene is closely associated with the metabolism of omega-3 and omega-6 fatty acids as well. About Omega 3 DHA Omega 3 DHA is a fatty acid found in most fish and seafood. It has been shown to reduce the risk of heart disease and stroke, among other health benefits. You may know it as a dietary supplement in the form of fish oil, which is a source of both Omega 3 DHA and EPA. What happens if you don't get enough? Omega-3 fatty acids are essential for the proper functioning of the human body. Without them, you can suffer from various health problems, such as cardiovascular disease, depression, and dementia. Recommendations There are many foods that contain Omega 3 DHA including salmon, anchovies, trout, herring, and tuna. However, there are also many foods that contain omega-3s but not enough to meet the daily recommendation, including walnuts and almonds.

### Omega 3 ALA

- URL: https://macromo.com/blog/nutrition-and-diet/omega-3-ala
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: FADS1, FADS2 The FADS1 gene is connected to the metabolism of several omega-3 fatty acids, including docosahexaenoic acid (DHA), eicosapentaenoic acid (EPA), docosapentaenoic acid (DPA), and their precursor alpha-linolenic acid (ALA). The FADS2 gene is closely associated with the metabolism of omega-3 and omega-6 fatty acids as well. About Omega 3 ALA Omega 3 ALA is a fatty acid found in plants (e.g. nuts, seeds) or vegetable oils. It plays a key role in many aspects of our health and has been shown to have a positive effect on the prevention of heart disease and stroke. It is important to know that all omega 3 acids (ALA, DHA, EPA) are different and have their own specifics. What happens if you don't get enough? Omega 3 ALA deficiency symptoms include fatigue, memory problems, dry skin, mood swings, depression, as well as problems with heart and circulation. Recommendations Some people might be genetically predisposed to have a lower conversion rate of ALA into EPA and DHA. This means that they need more ALA than others to get the same benefits.

### Magnesium

- URL: https://macromo.com/blog/nutrition-and-diet/magnesium
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: MUC1 There is a variant of the MUC1 gene that is linked to marginally decreased magnesium levels in the blood. About Magnesium Magnesium is an essential nutrient for the human body that helps regulate nerve and muscle function, promotes bone health and maintains a steady heart rhythm. What happens if you don't get enough? Muscle weakness and frequent cramps can be the first signs of hypomagnesemia (decresed levels of magnesium). It can also lead to more severe complications like various heart arrhythmias, seizures, and even cardiac arrest. A connection with diabetes, osteoporosis, and migraines has also been established. Recommendations Ideal sources of magnesium are foods such as beans, whole grains, green leafy vegetables, nuts, seeds, dark chocolate, fish and meat. If supplementation in the diet is not sufficient, you may consider dietary supplements, but remember that they can never fully replace food.

### Inclination to alcohol abuse

- URL: https://macromo.com/blog/nutrition-and-diet/inclination-to-alcohol-abuse
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: SLC39A8,ADH, ALDH2 Some studies have suggested that variations in SLC39A8 may be associated with alcohol-related behaviors. Genes within the ADH family, such as ADH1B, ADH1C, and ADH4 , encode enzymes involved in alcohol metabolism. Variations in these genes can impact the rate of alcohol metabolism Genes within the ALDH family, particularly ALDH2 , encode enzymes that are responsible for the metabolism of acetaldehyde, a toxic byproduct of alcohol metabolism. About Inclination To Alcohol Abuse Even people with a genetic predisposition to alcohol abuse need a trigger to develop a substance abuse and/or addiction. Some risk factors include work or relationship stress, aggressive behavior in childhood, lack of parental supervision, peer pressure, physical or sexual abuse, and witnessing or being a victim of violence. What are the signs of alcohol abuse? First signs of a possible alcohol abuse include a feeling to cut down alcohol, being annoyed when people criticize your drinking, feeling guilty about your drinking and the need for alcohol in the morning to get ready for the day (eye opener). Recommendations This genetic score is only a rough indicator. Your actions and decisions can shape your life, especially when it comes to alcohol consumption. If you, or someone you know, experience any of the symptoms listed above, don't hesitate to reach out for help. Talk with your doctor, mental health professional or try support groups, such as Alcoholics Anonymous. Alcohol addiction is a disease that can ruin one's life and even lead to lethal consequences; however, it is possible to treat it and the prognosis is generally good.

### Copper

- URL: https://macromo.com/blog/nutrition-and-diet/copper
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: SELENBP1,SMIM1 Changes in SELENBP1 expression or function can influence the availability and utilization of selenium, which in turn may affect copper metabolism. Recent studies have identified a relationship between SMIM1 variations and copper metabolism. About Copper Copper is an essential nutrient for the human body with many important functions. It is involved in the formation of red blood cells and helps to form connective tissue, bones, skin and hair. Copper is also a key component in the production of enzymes involved in metabolism and energy production. What happens if you don't get enough? Signs of possible copper deficiency include anemia, low white blood cell count, frequent fractures as a sign of osteoporosis, irregular heartbeat, and thyroid problems. Muscle weakness, abnormal hair growth and delayed wound healing can also be signs of a deficiency. Recommendations Copper is found in many foods such as cocoa, liver and shellfish. More readily available sources also include beans, nuts, seeds, yeast whole grains and green leafy vegetables.

### Antioxidants

- URL: https://macromo.com/blog/nutrition-and-diet/antioxidants
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. About Antioxidants Antioxidants (e.g. vitamins A, C, E, selenium and carotenoids) are substances that can prevent cell damage from free radicals - unstable molecules produced as by-products of normal metabolism. Why are free radicals so bad? High concentrations of free radicals are very harmful to our bodies. They increase the risk of developing many diseases, including cancer, heart disease, Parkinson's disease, Alzheimer's disease and others. Recommendations Consume a wide variety of foods that are rich in antioxidants that can help you neutralize the harmful effects of free radicals. The most common ones are dark chocolate, strawberries, blueberries, or green tea. Many more are described on the Macromo Insider. If dietary enhancement is not sufficient, dietary supplements can also be taken.

### Caffeine Metabolism

- URL: https://macromo.com/blog/nutrition-and-diet/caffeine-metabolism
- Published: 2023-09-06
- Category: nutrition-and-diet
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. About Caffeine Metabolism Caffeine is a stimulant mainly found in tea, coffee or energy drinks. It's the most consumed psychoactive substance in the world, stimulating the nervous system, muscles and heart. Peak of the caffeine blood levels occurs within 15–45 minutes of consumption. How do genetics affect caffeine metabolism? The genetics of caffeine metabolism determine how long it takes our body to break down caffeine. If you have a fast metabolism, it will take your body less time to break down caffeine than if you have a slow one. The effects on the overall health (e.g. glucose levels, ...) of an individual are currently being investigated. Recommendations Consumption of caffeine-containing drinks especially in the afternoon or evening can disrupt your sleep. Therefore it is advisable to drink less caffeine or avoid it altogether before sleep. Larger doses might cause headache, anxiety and even irregular heartbeat.

### Polycystic Ovary Syndrome

- URL: https://macromo.com/blog/diseases-risks/polycystic-ovary-syndrome
- Published: 2023-09-06
- Category: diseases-risks
- Author: Yevhenia Rakhmankina

3Dmodel of polycystic ovaries, the vesicles are fluid filled; By scientificanimations.com ; Licensed under CC BB-YA4.0 Overview PCOS is an endocrine disorder affecting women of reproductive age. It typically starts in adolescence and causes menstrual irregularities, signs of male hormone excess (such as acne, excess of facial and body hair), and ovarian cysts. Obesity, diabetes, an unhealthy lifestyle, and a family history of PCOS can increase women’s risk of developing this disease. The diagnosis involves a complete medical history, physical examination, biochemical blood tests, and ultrasound examination. A healthy diet and regular exercise can help in reducing symptoms and avoiding serious complications like heart disease, endometrial cancer, diabetes, etc. Observed genes Polygenic score Influential genes: LHCGR, THADA This gene encodes the receptor for luteinizing hormone (LH). Variations in the LHCGR gene have been linked to PCOS. THADA is involved in insulin signaling and may play a role in the development of insulin resistance and PCOS. Prevalence & Risk factors PCOS is one of the most common endocrine disorders affecting women of childbearing age. The worldwide prevalence is estimated to be 5-10%. The existing data is not conclusive enough to determine whether or not there are any significant differences in the prevalence of PCOS across geographical locations and racial or ethnic groups. The risk factors for developing this disorder are obesity, diabetes, and unhealthy behaviors such as overconsumption of foods and drinks containing high levels of sugar, fructose, trans fat, animal fat, and processed foods. Genetics (by Barbora Hamerníková ) PCOS is a polygenic and multifactorial disorder. The incidence of polycystic ovaries is increased in first-degree relatives of PCOS patients and positive family history appears to be one the most informative risk factors for the disease development. Many genes are considered to be associated with the disease and may affect fertility either directly or indirectly. However, different studies focused on patients from multiple families failed to find a fully penetrant variant(s). Twin studies suggested that PCOS is neither an autosomal dominant nor a monogenic disease. Elevated androgen level is the most common endocrine disorder associated with PCOS. Several candidate genes have been reported, such as CYP11a, CYP21, CYP17, CYP19 , or single nucleotide polymorphism (SNP) in the SHBG gene. Other polymorphisms have been also observed and considered as potentially causative, e.g. in FTO or VDR gene. LH (Luteinizing hormone) level and distorted function of LH are often reported as a cause of PCOS as well.[2,3,4] Anyway, PCOS is a polygenic disease. In Macromo, we use Polygenic Risk Score (PRS) to determine the genetic risk. The PRS is an estimate of the probability that an individual carries a given trait based on genetics, without considering environmental factors.[5] Signs & Symptoms Women with PCOS have hormonal imbalances that interfere with normal reproductive processes. The symptoms typically occur in adolescence, around the time of the first menstrual period. Sometimes PCOS can occur later in life, for example in response to weight gain. Women can experience changes in their menstrual cycle, like heavy, prolonged, absent, or irregular periods, which is a risk factor for endometrial cancer. Many women affected by this disorder do not ovulate regularly, which can lead to enlarged polycystic ovaries and difficulties conceiving. Elevated levels of male hormones (androgens) can cause acne, excess facial and body hair (hirsutism), and male-pattern baldness. A relationship between insulin resistance, obesity and PCOS has been suggested, but the exact mechanism of interaction of these conditions isn’t known yet. It is assumed that one condition worsens the other and vice versa due to the imbalance of hormones levels. Diagnosis Ovarian cysts seen on ultrasound; By Je Hyuk Lee; Licensed under CC BY-SA 3.0 PCOS can be diagnosed based on medical history, physical examination, blood tests, and a pelvic ultrasound. If a woman has at least two of the three main symptoms: high androgen levels, irregular periods, and ovarian cysts, a doctor will diagnose PCOS. Therapy The best way to manage PCOS is through lifestyle changes (healthy diet, regular exercise). For women who don’t wish to conceive, a suitable option is combined oral contraceptive therapy which controls menstruation and treats hyperandrogenism. For women who wish to conceive, the primary goal is to induce ovulation, which can be done using various medications (letrozole, clomiphene, etc.). Nowadays, there is also a surgical method of ovulation induction called laparoscopic ovarian drilling, which uses heat or laser to induce ovulation. It is currently considered a safe and effective alternative to ovulation induction in infertile women with PCOS. Prevention There is no proven way to prevent PCOS but adopting a healthy lifestyle can reduce symptoms and prevent some serious complications. This includes regular exercise and a healthy diet. Prognosis PCOS can lead to several serious complications. Menstrual irregularity can increase the risk of overgrowth of the uterine lining (endometrial hyperplasia) or even endometrial cancer. PCOS is the most common cause of infertility - the inability to conceive. Other consequences of PCOS that have a great influence on women’s quality of life include weight gain and obesity, sleep apnea, heart disease, high blood pressure, depression, anxiety, and sexual dysfunction.. Women with polycystic ovary syndrome who eventually become pregnant are at higher risk of miscarriage, gestational diabetes, gestational hypertension, preeclampsia, and preterm birth. Recommendations A healthy diet and regular exercise can reduce symptoms and prevent complications. If you are experiencing menstrual irregularities, acne, hirsutism, or difficulties conceiving, see your doctor.

### Osteoporosis

- URL: https://macromo.com/blog/diseases-risks/osteoporosis
- Published: 2023-09-06
- Category: diseases-risks
- Author: Nuno Lemos

Observed genes Polygenic score Influential genes: CPED1,FMN2,ERC2,WNT16,LINC02341 The WNT16 gene has been identified to be associated with bone mineral density and fracture risk Certain variations in the COL1A1 gene have been linked to lower bone density and higher risk of osteoporotic fractures. The ESR1 gene codes for estrogen receptors, which play a key role in maintaining bone density. Overview Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility and susceptibility to fractures. According to WHO criteria, osteoporosis is defined as bone mineral density (BMD) that lies 2.5 standard deviations or more below the average value for young healthy adults. Prevalence & Risk factors Currently, over 200 million people worldwide suffer from osteoporosis [2] . Postmenopausal women and the elderly are the most susceptible groups, as an abrupt decrease in estrogen and age-related processes play a key role in the development of this disease. These two groups compose the most common form of osteoporosis: - Primary osteoporosis: we differentiate postmenopausal-Type I in which estrogen levels are decreased promoting bone resorption, from senile-Type II where the loss of bone mass is gradual as patients age, especially over 70 years old. - Secondary osteoporosis: occurs as a consequence of other primary disorders or most commonly due to long-term therapy with corticosteroids. Any of the causes of osteoporosis might be worsened by low body weight, malnutrition or smoking, all of those playing a role in the metabolism of bones. Genetics Osteoporosis is a polygenic disorder, meaning several genes take action in the progression and fracture risk of this condition. The genetic factors play an important role in regulating bone mineral density and other determinants of osteoporotic fracture risk, such as ultrasound properties of bone, skeletal geometry and bone turnover. Signs & Symptoms Although the affected people are mostly asymptomatic, pathological fractures are usually the first sign. These fractures are caused by everyday-activities or minor trauma that shouldn’t normally cause a bone to break.. Their most common location is vertebral, followed by the femoral neck, distal radius and other long bones. Symptoms will vary according to the location of the fracture/fractures, commonly causing severe pain, loss of weight and/or structural malformations (e.g. spine kyphosis) over time. Diagnosis In order to diagnose correctly and predict the probability of fractures, the patient must undergo bone mineral density (BMD) tests which include a special type of X-rays called dual-energy X-ray absorptiometry (DEXA scan). This scan is considered in all women over the age of 65 and men over 70 as a screening test. The results will be expressed as a so-called “T-score” - the difference in standard deviations between one’s BMD and a reference mean, which we can then apply to the WHO criteria above-mentioned. Therapy Therapy is based on treating and preventing fractures, thus medical treatment is most often required with the drug of choice being bisphosphonates. This medication will decrease the resorption of bone and strengthen it. Lifestyle prevention of osteoporosis is recommended with sufficient daily intake of calcium and vitamin D as well as physical activity and smoking/alcohol cessation. Prevention It is important to notice that osteoporosis is preventable. The methods to prevent it are mainly based on lifestyle modifications and weight bearing activities such as walking, dancing or low-impact aerobics. Once the disease has developed the prevention of all kinds of trauma and falls is essential. Postmenopausal women are recommended to take calcium and vitamin D supplements in order to strengthen the bones and decrease the risk of fractures. Prognosis There is no cure for this condition but the prognosis is favorable when all the preventive measures are followed. When detected in early stages, complying patients can increase bone mineral density (BMD) and decrease fracture risk following these lifestyle modifications and live a normal active life. Recommendations If you experience easy fracturing after trauma or falls, you should get an appointment with an orthopedist. Improve your health by exercising at least 20 min a day and by avoiding alcohol and smoking.

### Daytime Sleepiness

- URL: https://macromo.com/blog/diseases-risks/daytime-sleepiness
- Published: 2023-09-06
- Category: diseases-risks
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: KSR2 Very significant association was observed with KSR2 gene, which is associated with multiple physiological pathways relevant to sleep and metabolism​ About Daytime Sleepiness Daytime sleepiness, or excessive daytime sleepiness, is a condition where it is difficult for a person to maintain attention and alertness, which disrupts daily life and increases the risk of accidents and errors. It occurs regularly, even after sufficient sleep, and can be a symptom of a more serious illness. What causes this condition? Excessive daytime sleepiness may be caused by a variety of factors, such as sleep-wake disorders (restless legs syndrome or obstructive sleep apnea) or other health conditions (ranging from depression, anxiety, schizophrenia and lupus, to cancer, Parkinson's disease or multiple sclerosis). Recommendations If excessive daytime sleepiness is manifesting regularly and affecting your day-to-day life, don't hesitate to see your doctor. Your health provider will be able to identify the cause of your condition and determine the necessary cure. If necessary, tests to rule out any underlying conditions may be recommended.

### Irritable Bowel Syndrome

- URL: https://macromo.com/blog/diseases-risks/irritable-bowel-syndrome
- Published: 2023-09-06
- Category: diseases-risks
- Author: Benjamin Spanyi

Observed genes Polygenic score Influential genes: NCAM1, CADM2 Studies have shown that alterations in NCAM1 expression or function may be associated with changes in gut motility and visceral sensitivity, which are key features of IBS. Recent studies have found an association between CADM2 gene variants and IBS. Overview Irritable bowel syndrome (IBS) is a chronic functional disorder of the gastrointestinal tract characterized by otherwise unexplainable abdominal pain and a change in bowel movements. Its pathophysiology is not entirely understood, although multiple factors have been shown to influence the occurrence of symptoms: genetics gut microbiome composition gastrointestinal infections psychological factors such as anxiety and stress food intolerances Generally, it is believed to be caused by increased sensitivity and exaggerated responsivity of the intestines. Abdominal pain is often assosiated wtih IBS; picture by Marco Verch licensed under CC BY 2.0 Prevalence & Risk factors IBS is among the most common chronic illnesses, with an estimated 10-20% of the population experiencing some symptoms. [4] Prevalence is higher in women than men and increased in people under 50 years of age. Women aged 20-40 are most affected by IBS. [2] There are few established risk factors for the development of irritable bowel syndrome. Various functional somatic syndromes (e.g., fibromyalgia) are associated with a higher prevalence of IBS. A previous acute infection of the intestines is observed in ~10% of the patients. In patients with such post-infectious IBS, the prognosis may be slightly better. Genetics (by Barbora Hamerníková ) IBS is a multifactorial, stress-sensitive disorder, in which family clustering has been observed. Close relatives are 2-3x more likely to develop the disease. [5] However, no major genetic factors contributing to the development of IBS are known. [6] Genetic, as well as environmental and psychological factors (“brain-gut-axis” dysfunction), together increase the risk of IBS. The research is still ongoing, often in connection to single nucleotide polymorphisms (SNPs – change of a single nucleotide in the DNA strand), but the findings vary. SNPs in genes alone may not be enough to cause IBS, but they can interact with other genes or environmental factors and lead to disease development. [5] Some studies noted that a defect in the SCN5A gene was found in about 2.2 % of IBS patients, and furthermore confirmed by a genome-wide association study (GWAS). [7] It has been observed that rs4263839 and rs6478108 variants (in the gene TNFSF15 ) are associated with a higher risk of IBS. Genetic analysis also demonstrated that the TNFSF15 gene is a race-specific susceptibility gene for IBD. [8] It is proven that the effects of long-term stress may result in epigenetic changes as well (they modify the gene expression without changing the DNA sequence and cause alterations in phenotype). [6] In Macromo, we use polygenic risk scores (PRS) to determine genetic risk, as a disease is not caused by a single gene. The PRS is an estimate of the probability that an individual carries a given trait based on genetics, without considering environmental factors. Variants across their genome are summed and weighted according to their effect on the disease or trait. [9] Signs & Symptoms The defining features of IBS include abdominal pain and a change in stool consistency or frequency. The pain is usually crampy and can vary in intensity. There are multiple subgroups of IBS based on the predominant stool pattern: IBS with diarrhea IBS with constipation IBS with mixed stool pattern IBS unclassified About 50% of patients with IBS have a mucous discharge in diarrhea. Nocturnal loose stools are very uncommon in IBS. On the other hand, constipation in IBS can be irregular and last for days. Other common features of IBS include excessive gas, belching, and a bloating sensation. Diagnosis Diagnosis of IBS can be difficult due to its non-specific symptoms. There is no established biomarker or one standard test for IBS diagnosis. Diagnosis is made based on clinical symptoms, medical history, and physical examination. A colonoscopy can help exclude other causes of symptoms. Therapy The goal of IBS therapy is to manage its symptoms. Due to its complicated and not well-understood pathophysiology, treatment may take a long time before finding the most helpful path. Dietary changes can be beneficial, such as excluding foods that have been identified to aggravate symptoms of IBS or increasing dietary fiber. Furthermore, personalized psychosocial treatment aimed at decreasing stress and anxiety may help. Lastly, many medications can help manage the symptoms, such as anticholinergic medications (medications that block the action of acetylcholine), anti-anxiety drugs, and others. However, pharmacologic therapy is usually only indicated when dietary changes have not helped sufficiently. It is also important to remember that these drugs do not cure the condition; they merely aid with the symptoms. Prevention It is important to consume a varied diet with an adequate intake of micronutrients and dietary fiber. Nevertheless, there is no definitive preventive measure for IBS. Prognosis Most people with IBS lead a normal life while controlling their symptoms without serious health problems. It is essential to monitor the symptoms to identify better the potential specific triggers of pain or bowel habit changes. Recommendations If you experience abdominal pain, diarrhea, or constipation regularly, monitor your symptoms over time. Keeping track can help your clinician identify your triggering or exacerbating factors. Improve your health by eating a varied diet including adequate amounts of fiber.

### Insulin Resistance

- URL: https://macromo.com/blog/diseases-risks/insulin-resistance
- Published: 2023-09-06
- Category: diseases-risks
- Author: Anna Fiserova

Observed genes Polygenic score Influential genes: ADCY5 Variants in the ADCY5 gene, which encodes adenylate cyclase 5, have been linked with type 2 diabetes and insulin secretion. Overview Insulin is a hormone produced by the pancreas. Together with other hormones it regulates blood glucose levels. Insulin reduces the amount of glucose in blood by allowing its transport into the cells that use it as a source of energy. Primarily the liver, muscles, the brain and adipose tissue depend on glucose. A special cellular glucose sensing mechanism of beta cells located in the so called “Langerhans islets” of the pancreas, allow the cells to release insulin in response to the current level of glucose in blood. Higher levels result in an increased amount of released insulin. Insulin resistance is a condition in which glucose dependent tissues don't respond well to insulin and therefore aren't able to utilize glucose as intended in turn diminishing insulin's ability to reduce blood sugar levels. In response to high blood sugar levels, the pancreatic production of insulin increases which gradually leads to exhaustion of pancreatic cells and ultimately the development of Type 2 Diabetes Mellitus. Insulin resistance is considered to be a part of metabolic syndrome - a cluster of conditions commonly present together that highly increase the risk of heart disease, stroke and Type 2 Diabetes. There are no signs or symptoms exclusively related to insulin resistance as itself, making it even more important to attend regular check-ups at your GPs office. Blood pressure, your overall health condition, BMI and blood tests (glucose, HbA1c, fats, etc.) are simple, but great indicators of whether you are at risk of developing insulin resistance or not. There are a few simple steps that can minimize your risk of developing insulin resistance: Maintain a normal body weight (BMI 19 - 25) Stick to a healthy and balanced diet, we recommend a mediterranean diet Exercise regularly (optimally more than 3 times a week more than 30 minutes) Don’t smoke Avoid medications unless prescribed by your doctor (esp. steroids, antidepressants, antipsychotics, …) Check out our articles about diabetes , dyslipidemias ( hypercholesterolemia , hypertriglyceridemia , …), stroke or coronary artery disease for more information about possible consequences. Recommendations Maintain a normal body weight (BMI 19 - 25) Stick to a healthy and balanced diet, we recommend a mediterranean diet Exercise regularly (optimally more than 3 times a week more than 30 minutes) Don’t smoke Avoid medications unless prescribed by your doctor (esp. steroids, antidepressants, antipsychotics, …)

### Inflammatory Skin Diseases

- URL: https://macromo.com/blog/diseases-risks/inflammatory-skin-diseases
- Published: 2023-09-06
- Category: diseases-risks
- Author: Yevhenia Rakhmankina

Observed genes Polygenic score Influential genes: USP8,TRAF3IP2,RUNX3,DXO,SP140 The FLG gene, when it has a loss-of-function mutation, is a significant risk factor for atopic dermatitis, a common chronic inflammatory skin disorder​ Psoriasis Overview Psoriasis is an inflammatory skin disease characterized by itchy erythematous plaques. The course of the disease is chronic with acute flare-ups and periods of remission. The world prevalence is around 2-3% but it reached 11% in some Northern European countries. There are several risk factors identified and the most significant one is genetics - there is a positive family history of psoriasis in 40% of cases. Other risk factors include smoking, obesity, alcohol, some medications (lithium, beta-blockers, antimalarial drugs), and infections. The diagnosis is based on the history and physical findings. The treatment includes many approaches like different creams, injections, light therapy, etc. There aren’t any definite preventive measures, but the symptoms can be improved and the number of flare-ups can be reduced. Prevalence & Risk factors Psoriasis is found worldwide but the prevalence varies among different countries and ethnicities. The worldwide prevalence is estimated to be 2-3% but it is reaching 8-11% in some Northern European countries. There are multiple risk factors for psoriasis. The most important one is a family history of psoriasis and in addition to genetics various behavioral and medical conditions are linked to it. These are for example smoking, obesity, and alcohol use. Also, multiple drugs are associated with the worsening of this condition, the most commonly implicated drugs are beta-blockers, lithium, and antimalarial drugs. Infections (bacterial and viral) may be also associated with an aggravation of psoriasis. Genetics There is a strong genetic linkage, around 40% of affected individuals have a positive family history of the disease. The genes that are linked to its development are MHC (major histocompatibility complex) and HLA (Human leukocyte antigen) genes, as well as IL23 genes. Signs & Symptoms The course of the disease is usually chronic with acute flare-ups and periods of remission. Psoriasis has different forms and can have a different presentation depending on the affected area. The clinical subtypes of psoriasis include chronic plaque psoriasis, guttate psoriasis, pustular psoriasis, and erythrodermic psoriasis. The most common form is chronic plaque psoriasis. It is characterized by symmetrically distributed itchy erythematous plaques. The scalp, extensor elbows, knees, and intergluteal cleft are commonly affected. It can be either a localized disease or a widespread one involving most of the body's surface. Some special sites like nails, palms, and intertriginous areas (areas in which skin touches skin, e.g. the armpits) can be involved as well. Psoriatic arthritis is common in patients with psoriasis, which typically presents as joint pain, joint stiffness, and back pain. Diagnosis The diagnosis is based on the history and physical examination. If the findings are inconclusive, a skin biopsy can be performed. Therapy The treatment options include creams and ointments (topical therapy, often containing steroids), light therapy (phototherapy), and oral or injected medication. The therapy choice depends on the severity of the disease and various combinations of these options can be used. Prevention The prevention of psoriasis is not possible, however, there are some things you can do to relieve symptoms or help reduce the number of psoriasis flare-ups. These include taking daily baths, keeping the skin moisturized, avoiding triggers, and getting a small amount of sunlight each day. Prognosis Psoriasis is a chronic condition with no known cure. However, with appropriate treatment and management techniques, symptoms can usually be well controlled and allow patients to live normal lives. It doesn’t significantly influence mortality, but affects the quality of the affected persons life. Eczema (atopic dermatitis) Overview Atopic dermatitis is a chronic pruritic inflammatory skin disease. It occurs most frequently in children but can also affect adults. It has a chronic relapsing course over months to years. The majority of the patients are free of eczema by adolescence but in some cases it can persist. The prevalence is estimated to be 15-20% in children and 3% in adults, but there is some variation among countries and ethnicities.[2] The most important risk factor for developing atopic dermatitis is a family history of atopy (allergic rhinitis, asthma, or atopic dermatitis), and it is positive in 70% of affected individuals. There are several genes identified that are responsible for the development of eczema, for example, FLG gene involvement results in a defective epidermal barrier. Various environmental factors are linked to atopic dermatitis, these include climate, air pollution, some nonpathogenic microorganisms, water hardness and others. The skin will be dry, itchy with red-brownish patches or small red bumps covered with fluid. Chronic scratching leads to skin thickening and fissures. Anybody part can be affected but there are also some regional variants: atopic hand eczema, eyelid eczema, atopic cheilitis (affecting lips), etc. The skin is also really sensitive to various environmental stimuli like different allergens, irritants, pollution, humidity, microorganisms, and stress. It is also predisposed to various bacterial and viral skin infections. The diagnosis is based on the history and physical examination of a patient. If the diagnosis is inconclusive, a skin biopsy can be performed. The blood lab results can also show increased IgE levels and eosinophilia. The treatment consists of some emollients (moisturizers) to prevent the dryness of the skin. Various topical medications like corticosteroids, tacrolimus, and antihistamines can be used to reduce the inflammation. The prevention mainly consists of keeping your skin moisturized, and avoiding triggers (sweat, detergents, soaps, stress, obesity, etc) Seborrheic dermatitis Overview Seborrheic dermatitis is a chronic relapsing inflammatory skin disease. It occurs mostly in infants and adults, with a prevalence of 3% (clinically significant cases only).[3] There are various risk factors identified. Age is one of them because seborrheic dermatitis is really common in newborns and infants. Immunosuppression (organ transplantation, cancer) also plays a big role. HIV patients have a much higher prevalence of seborrheic dermatitis (35%) and it’s even higher (85%) in AIDS. Other risk factors include various neurological and psychiatric diseases (Parkinson’s syndrome, epilepsy, eating disorders, depression), psoriasis, rosacea, and stress. The severity varies but usually, it’s a mild form characterized by well-demarcated red plaques with greasy-looking yellowish scales. These lesions usually appear in areas that are rich in sebaceous glands such as the scalp, the external ear, the center of the face, the upper part of the trunk, and the intertriginous areas. When there is only a mild involvement of the scalp it can present as dandruff (diffuse, fine desquamation without inflammation). The diagnosis is based on the history and physical examination. If the diagnosis is inconclusive, a skin biopsy can be performed. The goal of therapy is to clear all the visible signs, reduce symptoms and prevent relapses. The available treatment options include topical antifungal agents, topical anti-inflammatory agents, and several topical agents with nonspecific antimicrobial, anti-inflammatory, or keratolytic properties. For the patients with moderate to severe presentation oral antifungals can be prescribed. In case of scalp involvement antifungal shampoos (Ketoconazole 2%) are used. Recommendations If you experience skin problems, visit a dermatologist. Improve your health by taking daily baths, keeping your skin moisturized, avoiding triggers, and getting a small amount of sunlight each day. Quit smoking and limit alcohol use.

### Hypothyroidism

- URL: https://macromo.com/blog/diseases-risks/hypothyroidism
- Published: 2023-09-06
- Category: diseases-risks
- Author: Anna Fiserova

Observed genes Polygenic score Influential genes: VAV3 VAV3 gene has been discovered to be involved in immune function, and it has been associated with hypothyroidism. This finding is novel, and more research may be needed. Overview Hypothyroidism is a medical condition caused by insufficient production of thyroid gland hormones. There are two main types of hypothyroidism: Primary hypothyroidism , in which the function of the gland itself is impaired Secondary hypothyroidism results from inadequate stimulation of the thyroid gland by the hormones produced in the hypothalami-hypophyseal system. Hormones are substances released by glands to the bloodstream that can influence even distant organs. For more information, read the Endocrine system overview on the Macromo Knowledge Base. It's important to mention a few hormones which are either influencing or are being produced by the thyroid gland and their respective functions. Hormones produced by the hypothalamus Thyrotropin-releasing hormone is produced by neurons in the hypothalamus (part of the central nervous system) and stimulates the release of thyroid-stimulating hormone from the pituitary gland (hypophysis). Hormones produced by the pituitary gland Thyroid-stimulating hormone (TSH) stimulates the thyroid gland to produce thyroid hormones (T3, T4 ) based on the body's needs. If the concentrations of T3 and T4 are low, TSH production is increased and vice versa (a mechanism known as positive and negative feedback). It also increases during periods of growth, development, stress, and infections. Hormones produced by the thyroid gland Thyroxine (T4) Triiodothyronine (T3) The two forms of thyroid hormone are produced by follicular cells of the thyroid gland. Those cells actively capture iodine from the blood and bind it to tyrosine residues (Tyrosine is an amino acid that the body naturally produces) within the thyroglobulin molecule (a protein produced by the thyroid gland). Combination of molecules with bound iodine forms required hormones. This whole process is regulated by TSH (thyroid-stimulating hormone) produced by the pituitary gland, and it is not possible without sufficient amounts of iodine in the blood. In humans, T4 is the primary form of thyroid hormone in the blood and is released approximately 14 times more than T3[1]. But since it's an inactive form with minimal effect on the metabolism, it eventually converts to T3, which is metabolically active. Thyroid hormones affect almost every cell of the body (due to their easy accessibility by the bloodstream) and influence metabolism. If the hormone levels are high, we can talk about hyperthyroidism; when low, it's called hypothyroidism. Some of their functions are following: Regulation of calorie burn rate, affecting weight loss or weight gain Regulation of body temperature Influencing the heartbeat Influencing the motility of GIT and, therefore, the passage of food through the digestive tract Control of muscle contraction Control of cells regeneration Influencing the menstrual cycle Hypothyroidism can have many different causes distributed to primary and secondary causes, mainly based on the structures they affect. A primary cause is a condition that directly impacts the thyroid gland and causes lower secretion of thyroid hormones. Secondary causes (or sometimes known as central hypothyroidism) affect the other structures involved in regulating thyroid gland secretion (pituitary gland, hypothalamus). Primary cause Inflammation (Thyroiditis) Hashimoto's thyroiditis - the most often form of thyroiditis (five times more common in women than in men), caused by an autoimmune response of the body Postpartum thyroiditis - autoimmune disease occurring in women shortly after giving birth Radiation thyroiditis - a condition caused by radiation exposure Drug-induced - for example, by amiodarone (commonly used treatment for arrhythmias) Infectious thyroiditis - acute state as a result of infection Hereditary conditions Treatment of hyperthyroidism - by surgery or radiation and insufficient supplementation of thyroid hormones. Iodine deficiency - Iodine is an essential substance for synthesizing thyroid hormones. Secondary cause - a rare cause of hypothyroidism resulting from damage of central structures - tumorous growth, hemorrhage, cysts and abscesses, radiation therapy. Hypothyroidism can also develop during pregnancy and increase the risk of miscarriage, premature delivery, and higher blood pressure. It can be easily overlooked due to the similarities between hypothyroidism and pregnancy syndromes. A fetus can be seriously affected since thyroid hormones are essential for physical and mental development. Fortunately, treatment is well tolerated by pregnant women, and when treated correctly, the fetus isn't usually affected. Most women's thyroid function usually fully returns within 12 to 18 months. Prevalence & Risk factors The prevalence and incidence of thyroid dysfunction vary worldwide, mainly determined by iodine intake from food. Together with autoimmune disease (Hashimoto's thyroiditis), iodine deficiency is responsible for most cases. Hypothyroidism often remains undiagnosed, mainly in non-developed countries. Some studies suggest that the overall prevalence of hypothyroidism reaches up to 5%, with many more unknown cases.[2] Thyroid problems represent around 40% of the disorders treated by endocrinology specialists. A person is more prone to develop hypothyroidism in the presence of the following risk factors: Females are more affected than men Age over 60 Previous radiation exposure Family history of thyroid disease Other autoimmune diseases (rheumatoid arthritis, celiac disease) Pregnancy Genetics Genetics play an important role in determining the levels of circulating thyroid hormones, although there hasn't been any specific gene proven to be connected with the development of hypothyroidism. Having a first-degree family member affected by a thyroid disease increases your chance of developing a thyroid disorder. Approximately 30-60% of hypothyroidism cases have a link to family history.[3;4] Signs & Symptoms With lower thyroid hormone levels, general metabolism is slowed down. The signs and symptoms usually develop slowly over the years and vary according to the severity of thyroid hormone deficiency. Patients can experience: Fatigue Permanent tiredness Increased sensitivity to cold Weight gain Elevated blood cholesterol level Joint pain and swelling Infertility Hair loss Slower hair growth rate Problems with the menstrual cycle Muscle weakness Impaired memory Depression Constipation Children may have problems with development and growth. Elderly people can develop memory problems and depression. Diagnosis Since the symptoms of hypothyroidism develop very slowly, hormone blood level tests are essential in the early detection of the disease and, therefore, prevention of progression and severe complications. Medical specialists check mainly for the levels of TSH but also T3 and T4. Patients with thyroid disorders should have ultrasound checkups regularly to detect the extent of inflamed areas and potential tumorous growth. Therapy Standard treatment of hypothyroidism involves daily oral use of synthetic thyroid hormone - levothyroxine (T4 synthetic analog). It's not a definitive cure but a lifelong hormone supplementation that prevents symptoms and complications from developing. Levothyroxine is sold under brand names such as Euthyrox or Letrox in various concentrations. T3 analogs are used only in cases of insufficient levothyroxine treatment. It's important to regularly check levels of TSH, evaluate the results of the treatment, and prescribe an appropriate dose for the patient. Prevention Unfortunately, there is no possible way to prevent hypothyroidism unless caused by iodine insufficiency, which is mainly common in developing countries. Nevertheless, there are factors that increase the risk of developing thyroid diseases of any type, with few of them manageable. Focusing on those risk factors can positively impact your general health: Smoking - cigarette toxins can increase the sensitivity of the thyroid gland and lead to thyroid disorders Consumption of processed food - chemicals contained in processed food can impair the function of the thyroid gland Stress Consumption of soy products - soy intake alters the thyroid hormone production and effectivity of the treatment The most important is to regularly undergo screening when risk factors are present, consult medical specialists when symptoms are observed, and adhere to recommended treatment to prevent the progression of the disease and severe complications. Prognosis Hypothyroidism is a disease manageable by hormone supplementation when rightly diagnosed. Therefore, patients diagnosed early and adhering to the treatment don't experience any signs and symptoms, and their life isn't endangered or influenced by the condition. If left untreated, states such as anemia, voice changes, or hearing loss can develop. Severe hypothyroidism manifests as myxedema - the deposition of substances in the dermis (deeper layer of the skin) that causes swelling of the affected area. The main deposit sites are behind the eyes and on the lower legs. The most severe cases exhibit hypothermia, hypotension, respiratory depression, or even coma and must be hospitalized. Once the disease has progressed to myxedema coma, the mortality rate with modern treatment reaches up to 20%. The state has been historically mortal in 80% of the cases.[5] Recommendations If you experience fatigue, weight gain, and constant tiredness, reach out for medical help. Improve your health by consuming iodized salt (salt with added iodine). Ensure you're not eating foods affecting your ability to absorb levothyroxine (soy, iron supplements, calcium supplements).

### Hypertrophic Cardiomyopathy

- URL: https://macromo.com/blog/diseases-risks/hypertrophic-cardiomyopathy
- Published: 2023-09-06
- Category: diseases-risks
- Author: Hana Voberkova

Observed genes Polygenic score Influential genes: SMARCB1 In the context of HCM, the SMARCB1 gene has been implicated as a contributing factor. Overview Hypertrophic cardiomyopathy (HCM) is a disease of the heart muscle (myocardium). It is characterized by myocardial thickening (hypertrophy) without the presence of left ventricular dilatation or other pathologies that could explain the myocardial hypertrophy (e.g. arterial hypertension, aortic valve stenosis or ischaemic heart disease).(3) It is most often caused by abnormal genes that cause the walls of the chamber (ventricle) to get thicker and stiffer, which then limits the amount of blood taken in and pumped out to the circulation with every heartbeat. It is one of the most common types of cardiomyopathy with a frequency of 1:500 and also one of the most frequent causes of sudden death in young individuals and athletes. (3) Fig. 1: Hypertrophic cardiomyopathy | Mayo Clinic There are two types of HCM Obstructive type - more common (60-70%), the underlying problem is the enlarged septum, which prevents the blood flowing out of the heart Non-obstructive type - the walls of the ventricle grow thicker, but they do not obstruct the blood flow Several abnormalities and complications of the hypertrophic heart can develop over time: Prevalence & Risk factors The prevalence of hypertrophic cardiomyopathy is estimated to be at least 1:500 of the adult population. (4) Although no data exist in this area, based on the prevalence it is very likely that many patients with HCM remain undiagnosed during their life. (8) Hypertrophic cardiomyopathy is the most frequently inherited heart disease and it affects males and females of all ages and ethnic backgrounds. Although most patients with HCM present with no symptoms, it is important to remember that HCM is also associated with dangerous complications such as sudden cardiac death (SCD). Most often, patients with HCM are stratified and treated by the risk of SCD. The risk is influenced by several factors: (8) Family history Adolescence and early adulthood (< 35 years) Unexplained fainting (syncope) in past Nonsustained ventricular tachycardia Severe left ventricular hypertrophy Abnormal systolic blood pressure response to exercise Left ventricular outflow tract obstruction Atrial fibrillation Genetics Hypertrophic cardiomyopathy is a clinically diverse disease caused by a variety of gene mutations associated with hypertrophy of the left (and occasionally the right) ventricle. In up to 60% to 70% of adolescents and adults with HCM, the disease is caused by mutations in cardiac sarcomere protein genes, which encode parts of the contractile system and is transmitted as an autosomal dominant trait with variable penetrance (some individuals who carry the pathogenic variant express the associated trait while others do not). (1, 4, 5) Mutations in these genes can be found in approximately 60% of patients, and MYBPC3 and MYH7 mutations account for the majority of cases. (8) Nonetheless, several hundred mutations on more than 27 genes have been identified to date. (11) In infants and children, HCM is very often associated with specific syndromes (for example Noonan’s syndrome, LEOPARD syndrome) and metabolic diseases (such as the glycogen storage diseases etc.). (8) Signs & Symptoms HCM is characterized by left ventricular hypertrophy (LVH) of different morphology. It is associated with variable clinical courses and hemodynamic abnormalities. Although many patients with HCM are asymptomatic, others can develope one or more of the following symptoms (6): fatigue shortness of breath and exertion chest pain lightheadedness, dizziness palpitations fainting (syncope) and near-fainting (presyncope), especially during or immediately following exertion swelling of the legs and feet Depending on the severity of disease, patients may also develop the following complications: arrhythmias - both atrial and ventricular heart failure stroke sudden cardiac death HCM is also well-known for cases of young athletes, who had been asymptomatic all their lives and had died of sudden cardiac death, however the incidence is small (the annual SCD rate is <1%). Those recurring incidents are caused mainly by ventricular arrhythmias (primarily the ventricular fibrillation) and if diagnosed correctly in time, they can be effectively treated by implantable cardioverter defibrillators (ICDs). (8) Diagnosis A variety of tests are used in the diagnostics of HCM. It is always very important to exclude other conditions that could cause similar symptoms. The most frequently used tests are: Echocardiogram ECG and arrhythmia evaluation Holter and event monitors Cardiac magnetic resonance Exercise testing Cardiac catheterization Evaluation of first-degree relatives Therapy The aim of the therapy is to alleviate the symptoms and prevent sudden cardiac death in high risk patients. The specific treatment depends on the severity of the patient's condition. Prevention Since it is a hereditary disease, hypertrophic cardiomyopathy cannot be prevented. However, early diagnosis is crucial to prevent serious complications and facilitate treatment. It is important to realize that most people with HCM do not develop symptoms or require any treatment. To lower the risk of developing cardiac complications, patients with HCM are advised to: Avoid dehydration Avoid strenuous exercise and competitive sports - always discuss physical activity with a physician Maintain optimal weight Quit smoking Lower the alcohol intake Heart-healthy diet Manage stress Prognosis Due to the relatively high prevalence and the low overall incidence of complications, the prognosis of patients with HCM is generally good. It is estimated that at least two-thirds of HCM patients have a normal life expectancy. A review of HCM mortality published in 2017 describes a 0.7%/year mortality rate related to HCM and a 1.1%/year mortality rate from non-HCM-related causes. (9) Recommendations If you are diagnosed with HCM and you experience dizziness, chest pain, palpitations or fainting, always consult it with your doctor Avoid strenuous exercise and competitive sports Lower the risk of complications by following a heart-healthy lifestyle: Don’t smoke Limit alcohol to the minimum Stay hydrated Healthy diet - high in plant-based foods, fruits and vegetables, healthy fats from e.g. olive oil and low in saturated fats If you are overweight, lose weight

### High Blood Pressure

- URL: https://macromo.com/blog/diseases-risks/high-blood-pressure
- Published: 2023-09-06
- Category: diseases-risks
- Author: Hana Voberkova

Observed genes Polygenic score Influential genes: WNT2B,LSP1,CACNA1D WNT2B gene plays a role in various developmental and cellular processes and variations in this gene have been associated with hypertension. The LSP1 gene is involved in immune system regulation and inflammation. Some studies have suggested a possible connection between this gene and hypertension. The CACNA1D gene encodes a subunit of a calcium channel that plays a role in regulating blood vessel function and blood pressure. Overview Arterial hypertension, often referred to as hypertension or elevated blood pressure, is a common condition in which there is chronically increased blood pressure in the vascular system. The vascular system delivers the blood from the heart to all parts of the body. With each beat the heart pumps blood into the vessels. Blood pressure is created by the force of blood pushing against the walls of blood vessels (arteries) as it is pumped by the heart. The higher the pressure is, the harder the heart has to pump. (2) The pressure in the vasculature and in the individual cardiac compartments depends on three factors: the strength of the cardiac contractions the resistance of the vasculature the current blood volume Blood pressure (BP) is measured in millimeters of mercury (mm Hg). It is shown using 2 values, one over the other. A pressure of 120 to 80 mm of the mercury column is stated as optimal. The first value corresponds to the systolic pressure (the pressure that occurs during the cardiac contraction) and it is the highest pressure the heart is able to produce. The second value represents the diastolic pressure , which is the pressure in the arteries when the heart rests between beats and fills with blood. Classification of BP | 2018 ESC/ESH Guidelines for the management of arterial hypertension It is important to note that the blood pressure varies with age, which is due to the elasticity of the arterial wall. Elasticity of the arterial wall of older people is impaired and it is therefore less able to absorb the force of the blood pressure wave during systole (cardiac contraction), which is reflected in an increase in systolic blood pressure. There are two types of high blood pressure: Primary (essential) hypertension - the cause of primary or essential hypertension is high cannot be determined. Primary hypertension affects 90-95% of people who have high blood pressure. Secondary hypertension - Secondary hypertension or symptomatic hypertension is caused by an underlying condition. It affects 5-10% of people who have high blood pressure. Secondary hypertension can be caused by a variety of different diseases and factors, such as: Kidney disease Adrenal gland tumors Thyroid gland problems Hypertension in pregnancy Hypertension in sleep apnoea syndrome Certain medications - such as birth control pills, cold remedies, decongestants, over-the-counter pain relievers and some prescription drugs Illegal drugs, such as cocaine, amphetamines and other psychostimulants Although high blood pressure remains most common in adults, more children are becoming at risk. It can be caused by diseases of the kidneys or heart but for a growing number, poor lifestyle habits — such as an unhealthy diet, lack of exercise and exposure to alcohol in young age — contribute to an increase in their blood pressure. (1) Prevalence & Risk factors According to WHO, hypertension is a major cause of premature death globally, with upwards of 1 in 4 men and 1 in 5 women (therefore over a billion people) having the condition, especially in low and middle-income countries, where about two thirds of cases are found. This is most probably due to the increase of risk factors in those populations in recent decades. (2) A person is more prone to develop hypertension in presence of several risk factors: Higher age Gender - men up to 64 years of age are more prone to developing the condition, after that the risk is higher for women Family history of hypertension, premature CVD, hypercholesterolemia, diabetes Personal history of cardiovascular disease (CVD) - myocardial infarction, heart failure, stroke, transient ischemic attacks, diabetes, dyslipidemia, chronic kidney disease Smoking status - both smoking and/or chewing tobacco Poor diet - high salt intake, minimum of vegetables and fruits, high fat intake High alcohol intake Lack of physical activity Being overweight or obese Stress Genetics In most studies, a positive family history is a frequent feature in hypertensive patients, with the heritability (fraction of the trait explained by genes) estimated to vary between 35 and 50%. However, hypertension is a highly heterogeneous condition with a multifactorial set of causes. Several studies of the genome have identified over 120 loci (positions on a chromosome where a particular gene is located) that are associated with BP regulation, but together these only explain about 3.5% of the trait variance. (4) According to recent studies, the genetic contribution to BP regulation is of two completely different types: Polygenic type of inheritance – There are possibly many thousands of common genetic risk variants that are individually associated with small effects (approximately 1 mmHg or even less). The likelihood of primary hypertension increases with the number of risk variants present and is modulated by the above mentioned risk factors such as age, gender and alcohol intake. Consequently, primary hypertension cannot be caused by one or only a few genetic variants. Also, there is no such thing as the primary hypertension gene. (3, 5) Monogenic type of inheritance – The increase in blood pressure is caused by a deviation in one gene. This type of inheritance occurs only in a few of the rarer forms of secondary hypertension. Those rare gene mutations running in families can cause secondary hypertension, even in the absence of other risk factors. (3, 5) Liddle syndrome Severe autosomal dominant hypertension and brachydactyly Glucocorticoid-suppressible hyperaldosteronism Apparent mineralocorticoid excess Signs & Symptoms It is common for symptoms to go unnoticed for a long time, and many people are therefore unaware that there is infact a problem. Common symptoms are: headaches nosebleeds arrhythmias (irregular heart rhythms) changes in vision buzzing in the ears fatigue vomiting and nausea anxiety chest pain confusion muscle tremors If the hypertension is untreated, it can lead to angina (persistent chest pain), heart attacks, aneurysms of vessels, heart failure and severe arrhythmias, which can cause a sudden death. It can also cause strokes (by damaging arteries that deliver oxygen to the brain), kidney damage (often leading to chronic kidney failure), damage to blood vessels of the eyes (causing vision loss), troubles with memory and/or dementia. (2) Diagnosis According to most guidelines, it is recommended to diagnose hypertension when a person’s systolic blood pressure in the office or clinic is ≥ 140 mm Hg and/or their diastolic blood pressure is ≥ 90 mm Hg after repeated testing. If possible, the diagnosis should not be made in one office visit, because blood pressure normally varies during the day and may increase during a doctor visit (also referred to as white coat hypertension). To confirm a diagnosis of hypertension, 2-3 visits at intervals of 1-4 weeks (depending on the level of blood pressure) are usually necessary. The diagnosis can be made in a single visit if the pressure is ≥180/110 mm Hg and there is evidence of cardiovascular disease (CVD). (4) The patient can be also asked to record their blood pressure at home to get more information and confirm the diagnosis. A Holter device can be also used to do so. A Holter blood pressure device is worn by the patient for twenty-four hours and records the changes in blood pressure over a 24-hour period in the normal environment and activities of the patient outside the doctor’s office. In addition to confirming the diagnosis, home monitoring also allows the doctor to check whether the blood pressure treatment is working or to diagnose a worsening of the condition. (1, 2) Therapy Changing your lifestyle can help control and manage high blood pressure, however sometimes those adjustments are not effective enough and medication is needed. The type of prescribed medication depends on the measured values and the overall health of the patient. Very often two or more types of drugs are combined because they work better than one. (1) Prevention The best way to prevent hypertension and associated diseases of the heart, brain, kidney and other organs is by reducing modifiable risk factors and therefore: Maintaining an ideal body weight Including regular physical activity Limiting the alcohol intake Giving up smoking Limiting caffeine intake Healthy diet - plenty of fruit and vegetables, minimum of salt intake, reducing total fat intake, especially saturated fat Reducing and managing mental stress (2) Prognosis The prognosis depends on the level of BP (especially systolic), the presence of other risk factors (smoking, elevated blood lipids, diabetes, obesity), organ damage and the presence of associated diseases. Studies have shown that lowering systolic blood pressure by 10 mmHg or diastolic blood pressure by 5 mmHg leads to a reduction in major cardiovascular events by approximately 20% and all-cause mortality by approximately 10-15%. In determining overall cardiovascular risk, it is recommended to use the SCORE nomograms to predict the probability of cardiovascular death over the next 10 years. Recommendations If you are overweight, try to lose weight. Even a small weight loss can be beneficial. Reducing weight by just 3% to 5% can help decrease certain fats in the blood, lower blood sugar and reduce the risk of type 2 diabetes Choose a diet rich in fruits, vegetables, and low-fat dairy products, and low in meats, sweets, and refined grains Eat less salt (sodium). It will lower the excess fluid in your body as well as your blood pressure and also allow your medicines to work properly Try to be active for at least 30 minutes a day Limit the amount of alcohol you drink Stop smoking

### Hereditary Hemochromatosis

- URL: https://macromo.com/blog/diseases-risks/hereditary-hemochromatosis
- Published: 2023-09-06
- Category: diseases-risks
- Author: Yevhenia Rakhmankina

Overview Hereditary hemochromatosis is the most common autosomal recessive disorder in the white population. It has a prevalence of around 0,3% in Europe. [1] It develops in people that have a mutation in the HFE gene that leads to increased iron uptake. Typically men develop symptoms sooner than women. Iron deposits in various organs and causes symptoms like liver enlargement, liver damage, dilated cardiomyopathy, arrhythmias, joint problems, or joint pain. Also, people can develop some serious complications that can lower their life expectancy, like heart failure, cirrhosis, liver cancer, and diabetes. Diagnosis is based on genes and blood testing (to assess iron overload). The best treatment option is phlebotomy - the removal of around 500 ml of blood from the body to reduce the amount of circulating iron. The process itself can be compared to blood donations. Prevalence & Risk factors Hereditary hemochromatosis is the most common autosomal recessive disorder in the white population, with a prevalence of 0,2-0,3 %. [1] It is less common in the African-American and Asian populations. The most important risk factor is genetic predisposition - biallelic HFE gene mutation. Among other risk factors, we can include first-degree relatives with hemochromatosis, age, sex (men develop it sooner than women due to loss of iron with blood during menstruations), and ethnicity. Genetics Hereditary hemochromatosis is predominantly referred to as an autosomal recessive disease, however, an autosomal dominant pattern has been described in one form of the disease. Its most prevalent form is caused by homozygous mutations in the HFE gene, specifically the C282Y mutation (both alleles are affected). It is responsible for the production of the protein hepcidin, which is necessary for iron uptake. Furthermore, this disease can also be caused by mutations in other genes (=non-HFE hemochromatosis), such as HAMP, HJV, TFR2, and SLC40A1. In spite of the high prevalence of C282Y homozygosity, just a small number of people will accumulate such levels of iron that would cause organ damage. The frequency of C282Y homozygosity is quite the same in both men and women, due to the autosomal recessive manner, but the prevalence of symptoms may vary. Expression in phenotype is visible in about 70% of cases, but on the other hand, less than 10% of individuals struggle with serious iron overload. [2-4] Signs & Symptoms Hereditary hemochromatosis is a condition characterized by iron overload and the severity of symptoms depends on the extent of the overload. Most people will not develop any symptoms at all or will present only with mild nonspecific symptoms like fatigue, pain, etc. Presentations associated with significant iron overload are rare in younger individuals. Men typically develop the condition at the age of 40 or older, and women generally develop it after menopause. Iron overload leads to its deposition in various tissues. The most common organ affected is the liver. It manifests with hepatomegaly (enlarged liver), cirrhosis (late-stage liver scarring), and an increased risk of liver cancer. Iron can also deposit in the heart, leading to dilated cardiomyopathy, heart failure, or arrhythmias. Depositions in endocrine organs can cause different hormonal disturbances. In case the pancreas is affected, it can become a cause of diabetes mellitus type 2. Other symptoms may include secondary hypothyroidism or hypogonadism (pituitary gland involvement), arthralgias (pain in joints), skin hyperpigmentation (bronze skin), CNS involvement (cognitive or neurological abnormalities), and susceptibility to infections. Diagnosis To diagnose hereditary hemochromatosis several tests can be performed. Laboratory tests to determine iron overload are serum transferrin saturation and serum ferritin. Additional tests to identify liver damage are liver function tests, MRI, and liver biopsy. Gene testing is also performed to identify the HFE gene mutation. Therapy The most common treatment available is the removal of blood from circulation (phlebotomy). It is similar to the donation of blood. Initially, it has to be done once a week until normal blood iron levels are reached. Then it can be done once every 2-4 months to maintain normal iron levels and prevent its accumulation. Prevention People affected by hemochromatosis don’t need to maintain a special diet. However, avoiding iron and vitamin C supplements is beneficial. Drinking alcohol (1-2 drinks per day) is safe unless the person has liver damage (cirrhosis or hepatitis). It is also recommended to avoid eating raw fish or shellfish. Prognosis Most people with hemochromatosis have a normal life expectancy. Survival may be shortened in people who are not treated and develop serious complications. These include diabetes, cirrhosis, liver cancer, and heart failure. Recommendations If you experience any signs or symptoms of iron overload, please contact your doctor. If you have first-degree relatives affected with hemochromatosis, screening (gene testing) for this disease is recommended. Improve your health by eliminating raw fish, iron, and vitamin C supplements from your diet and limiting alcohol intake.

### Gout

- URL: https://macromo.com/blog/diseases-risks/gout
- Published: 2023-09-06
- Category: diseases-risks
- Author: Nuno Lemos

Observed genes Polygenic score Influential genes: NON-CODING Variations in the GCKR gene have been found to be associated with increased levels of uric acid in the blood, which is the main risk factor for developing gout. Studies have identified an association between variations in the A1CF gene and gout susceptibility. Overview This condition is typically associated with increased levels of uric acid in the blood, which tend to deposit in joints and surrounding tissues to cause “gouty” flares. It is the most common type of arthritis characterized by acute attacks of severe joint pain. It also affects the overlying skin. The episodes are typically acute and last only days to weeks, otherwise being asymptomatic most of the time. It usually follows triggers, such as trauma, dehydration, or consuming a large amount of purine-rich foods that significantly increase uric acid levels. During these flares, the overlying skin appears red, hot and swollen on the affected joint. It rarely progresses to a chronic state characterized by the formation of multiple painless hard nodules called tophi, known to cause progressive joint destruction. Prevalence & Risk factors It is estimated that men around 30-50 years old are 4-10 times more likely to have gout than women. Therefore, the significant risk factors include: men are more likely affected than women obesity family history of gout, higher genetic risk purine-rich diet (e.g., red meat, alcoholic beverages, seafood) taking certain medications such as diuretics Genetic factors make up a significant portion of risk factors, especially when involved in enzyme defects of the purine metabolism, e.g., Lesch-Nyhan syndrome. High alcohol consumption combines uric acid overproduction and decreased excretion. Genetics A combination of both genetic and environmental factors is seen in this disease. According to studies, the main risk factor is hyperuricemia, which is inheritable in up to 40% of the cases[3]. Variations in the genes involved in uric acid metabolism such as SLC2A9 , SLC22A12 , and ABCG2 are known to increase the risk of gout. Lesch-Nyhan syndrome is a genetic condition known to cause an overproduction of uric acid and is highly connected to gout. It is defined by an enzymatic defect in the purine metabolism and inherited in an X-linked recessive fashion. Signs & Symptoms Gout is associated with acute attacks triggered by a sudden increase in uric acid or following trauma, dehydration, or diuresis (increased urine flow). The episodes start with acute severe pain with overlying erythema, swelling, and warmth and most likely occur at night, peaking after 12-24h of the initial symptoms. The most typical site is the metatarsophalangeal joint (MTP), the big toe. The affected person is asymptomatic for most years but rarely can progress to the chronic stage where multiple painless hard nodules called tophi develop in bone and soft tissue. Eventually, this leads to progressive joint destruction. Diagnosis The analysis of synovial fluid is the mainstay of diagnosis following arthrocentesis. Laboratory studies such as determining uric acid serum and urine levels help confirm the diagnosis. Therapy There is no known cure, but lifestyle modifications help reduce the likelihood of these events. General measures to reduce these attacks are mostly based on the following lifestyle modifications: limiting alcohol consumption decreasing the intake of purine-rich foods weight loss, if overweight Pharmacotherapy is casually needed when a severe attack occurs or when chronic gout settles. Rest and ice on the affected joint are sufficient during an acute flare in mild cases. In severe cases, glucocorticoids, NSAIDs, or colchicine are usually prescribed. Chronic gout urate-lowering therapy is different from the one used in acute attacks. Beware that this medication can worsen an acute flare. Prevention Lifestyle modifications are effective in preventing gout. To reduce the risk of flares, limit your alcohol consumption, the intake of purines found in red meat and shellfish, limit high-fructose syrups seen in sugary foods, juices, and non-diet sodas, and lose weight if overweight. Prognosis Acute attacks are self-limiting and resolve within 1-2 weeks. These tend to recur within one year. Untreated patients will likely develop chronic gout, and can permanently damage their joints, leading to a loss in the range of motion. Recommendations If you experience pain, swelling, and warmth over a joint, you should visit your doctor. Improve your health by exercising and improving your diet.

### Gallstones

- URL: https://macromo.com/blog/diseases-risks/gallstones
- Published: 2023-09-06
- Category: diseases-risks
- Author: Anna Fiserova

Observed genes Polygenic score Influential genes:ABCG8,SERPINA1,LRBA,HNF4A,ABCG5 Variations in the ABCG8 gene have been associated with an increased risk of gallstone formation. Some studies have suggested an association between certain variations in the SERPINA1 gene and an increased risk of gallstone development. Genetic variations in the HNF4A gene have been associated with an increased risk of gallstone formation. Overview Gallstones are hard deposits in the gallbladder, which is a small pouch in the abdominal area located under the liver, responsible for storing bile - a fluid constantly produced by the liver that helps to digest lipids. Responding to signals, the gallbladder contracts and squeezes the bile through a system of ducts into the small intestine where digestion takes place. Substances in bile, such as cholesterol or bilirubin, can crystalize and form gallstones. Two types of gallstones are differentiated based on the precipitated substance - cholesterol stones (80%) and pigment stones from bilirubin. Patients are usually unaware of their gallstones, until they obstruct a bile duct, causing a bile build-up and resulting in severe pain in the right upper abdomen that can last several hours. Gallbladder attacks usually follow heavy meals and occur in the evening or during the night. One of the complications is an infection of the gallbladder, called cholecystitis. Treatment isn't required until symptoms develop, which then often results in a removal of the gallbladder that doesn't significantly influence a patient's quality of life. Prevalence & Risk factors Gallstones are a very common health condition that widely varies based on ethnicity, age, and geographic location. Studies have shown that gallstones are more prevalent in White and Native Americans in comparison with Eastern European, African American, and Japanese populations. The percentage of affected people can be as high as 60-70% in Native Americans and 10-15% in white adults in developed countries.[1] The prevalence increases by age in both men and women, mainly affecting individuals over 40 years old. They're very rare in children. Risk factors for gallstones include: Birth control pills and estrogen therapy Female sex Ethnicity Age over 40 Diet high in cholesterol, low in fiber Pregnancy (connected with both changes in bile composition and delayed gallbladder emptying) Family history of gallstones Obesity (higher cholesterol concentration in the bile) Dyslipidemia (some dyslipidemias can cause elevated cholesterol levels) Diabetes mellitus (an increase of cholesterol resulting in the formation of cholesterol gallstones) Liver disease Rapid weight loss in patients on very low-calorie diets or after a gastric bypass (if you lose weight quickly, the liver releases extra cholesterol into the bile) Genetics Gallstone disease is an example of a multifactorial disease. Both genetic factors and environment play significant roles in their formation. Although research groups have identified multiple genes that may promote the formation and development of gallstones, twin studies have found that genetic factors account for approximately 25% of the risk. Corresponding genes are usually involved in cholesterol transport pathways. Ongoing genetic studies and further research is needed for gaining deeper knowledge about the background of gallstones development.[3] Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms Gallstones are asymptomatic as long as they don't cause an obstruction of the bile duct. Once they cause a bile build-up, patients experience severe sudden pain in the center of the abdomen or in the upper right abdomen, which can spread to the side or to a shoulder. They can feel nauseous and have fever or chills. If the obstruction lasts longer than a few hours (usually more than 5 hours), complications might develop. Symptoms of these complications might include jaundice, fever, vomiting, dark urine, and pale stools. Diagnosis The diagnosis of gallstones is based on thorough anamnesis focused mainly on the patient’s symptoms, diet, and family history of gallstones. To confirm the disease, lab tests, and imaging methods are indicated. The lab tests focus mainly on signs of inflammation and assessing the function of the liver. Ultrasound is the preferred method in the diagnosis of gallstones, but CT or MRI scans can be used for more precise imaging. Therapy Once the symptoms develop, it's necessary to contact a medical professional that will set up a treatment plan. Even though the attack can often resolve on its own, the probability of reappearance is very high and action should be taken. The usual treatment line is gallbladder removal, also called cholecystectomy. It's one of the most common surgeries overall, and it's a fast and relatively safe procedure. The gallbladder is not an essential organ, which means that the human body doesn't need it for sufficient function and the patient’s quality of life isn't affected. Patients may only experience changes in the structure and color of their stool. Surgeons mainly choose a laparoscopic approach, but open cholecystectomies are also performed in cases of severe inflammation or damaged tissue. If the surgery isn't possible (e.g. patient isn't stable enough for surgery), there are a few non-surgical options, such as medications containing bile acid or extracorporeal shock wave lithotripsy, in which shock waves try to break gallstones into smaller pieces. Prevention Based on limited evidence, there are two main steps to prevent gallstones. Diet changes Avoid foods high in saturated fats (sausages, butter, cream, hard cheeses, coconut and palm oil) Avoid sugar and refined carbohydrates (white flour, white bread, and tortillas) Eat healthy oils (fish oil, olive oil) Ensure a sufficient fiber income Eat at least 5 portions of vegetables and fruits a day. Don't drink more than 14 units (1 unit is 10 ml or 8 g of pure alcohol) of pure alcohol per week - that's approximately 7 standard glasses of wine Weight loss - maintaining a healthy weight helps to reduce cholesterol levels in the blood Exercise regularly, at least 3 times a week for 30 mins Avoid rapid weight loss diets as they can lead to the formation of gallstones Prognosis Most patients (more than 50%) are asymptomatic and will never develop any signs of gallstones. But if an attack is left untreated, the bile build-up can result in inflammation, which can proceed into necrosis of the whole gallbladder. About 1 to 2% of patients per year develop those complications. People with a history of gallstones have a higher risk for the development of gallbladder cancer. But the overall prognosis is excellent and most of the patients fully recover.[2] Recommendations If you experience sudden pain in the abdominal area, right side, or shoulder, seek medical help. Improve your health by regular exercise, at least 3 times a week for 30 minutes or more. Avoid fast weight loss, otherwise you're at risk of developing gallstones as well as kidney stones. Eat healthy oils - fish oil and olive oil. Don't drink more than 140 ml of pure alcohol per week. Don't be scared of gallbladder surgery if it is needed - the gallbladder is not necessary for the proper function of the human body.

### Endometriosis

- URL: https://macromo.com/blog/diseases-risks/endometriosis
- Published: 2023-09-06
- Category: diseases-risks
- Author: Clara Boettcher Mallmann

Observed genes Polygenic score Influential genes: CDC42 Dysregulation of CDC42 activity may play a role in the development and progression of endometriosis. Overview Endometriosis is a condition in which matter that resembles endometrial tissue (that lines the inner wall of the uterus) grows outside of its normal place. This abnormal tissue can grow and bleed as the uterus lining does during a normal menstrual cycle, which leads to irritation and inflammation. Eventually, this can cause scar tissue formation, called adhesions, which can cause organs to stick together. It is a chronic disease that can affect women of all ages, although it predominantly affects those in their reproductive years. The causes behind the disease are not fully understood, but it is believed to be related to the backflow of menstrual blood into the abdominal cavity via the fallopian tubes. Symptoms include, beyond others, menstrual pain and pain after sexual intercourse, chronic lower abdominal and back pain as well as fatigue, and sometimes even infertility. Treatment is individually based but can include: Pain medications. Therapy with hormones (such as contraceptives). The surgical removal of abnormal tissue. Prevalence & Risk factors Endometriosis is a disease that can be asymptomatic for many years. Therefore the precise assessment of its prevalence is complex. It is believed that between 2 to 10 percent of reproductive-age women are suffering from this condition.[1] The age of its onset is usually between 20-40 years. It is believed that many factors contribute to the development of the disease. Some of the risk factors associated with the condition include: Prolonged exposure to estrogen (e.g., a girl having their first menstrual cycle before the age of 11 to 13 or women with late menopause) Having short menstrual cycles (<27 days) High consumption of trans-unsaturated fats Structural defects in the uterus or fallopian tubes Having a mother, sister or daughter diagnosed with endometriosis. Genetics Endometriosis is a complex, multifactorial disease (many factors participate in its development). The combined effects of the environment, genetics, and epigenetics are considered important as all of them are interacting with each other. Family and twin studies suggest a higher genetic risk among close relatives. There are many genetic variants that each have a small effect, however, if present together, they increase the risk of endometriosis. [2,3] Identification of associated gene variants is crucial for a more personalized treatment approach. However, the discovery of causative genetic factors remains a challenge. [4] No single gene has been linked to the disease yet, but Genome Wide Association Study (GWAS) research suggests, e.g. TP53, CYP1A, HOXA10, p27, or IL-16 genes may be involved in the development of endometriosis. Some research groups have also concluded that the potential candidate genes might be located on chromosomes 7, 10 and 20. [2] As mentioned before, endometriosis is a multifactorial disease, and no causative gene has been identified. Here, in Macromo, polygenic risk scores (PRS) are used to determine the genetic risk. The PRS is an estimate of the probability that an individual carries a given trait based on genetics, without considering environmental factors. Variants across their genome are summed and weighted according to their effect on the disease or trait. [5] Signs & Symptoms Endometriosis may be asymptomatic in many women (up to ⅓ of patients) and is often discovered incidentally during surgery in the area. Affected women in their reproductive years usually present with the following symptoms: Pelvic pain Pain after intercourse Lower back pain Pre-or post-menstrual bleeding. Less commonly, symptoms include bowel and bladder dysfunction (presenting with diarrhea, constipation, cramping, pain) and chronic fatigue. All the above symptoms could occur alone or in combination, and an increased number of symptoms has been associated with an increased likelihood of endometriosis. Furthermore, infertility is often associated with the disease. Diagnosis Endometriosis is diagnosed according to the patient’s clinical presentation and imaging methods. The diagnosis is best confirmed by laparoscopy (a minimally invasive surgical procedure in which a camera and instrument are inserted into the abdominal cavity for a visual examination). A transvaginal ultrasound may be performed to look into the structures surrounding the uterus. A small tissue sample is then extracted and examined under a microscope. While this confirms the definitive diagnosis, the combination of the symptoms, signs, and imagining can lead to a sufficient presumptive and nonsurgical diagnosis of endometriosis. Therapy The treatment of endometriosis encompasses mainly two different approaches: medical therapy and surgical therapy . Medical therapy only stops the growth of the abnormal endometrial tissue and reduces related pain, but unfortunately, it does not resolve it. The medical therapy approach is focused on the usage of hormonal contraceptives and NSAIDs (pain medication). Surgical treatment is based on laparoscopic excision of the abnormal tissue. As mentioned above, this is also the preferred definitive diagnostic method. Alternatively, the doctor may choose an open surgery, including removing of the uterus. Prevention Unfortunately, today, there is no known way to prevent endometriosis. Building awareness of the disease and its symptoms leads to an early diagnosis and management, which can slow down the progression of the disease and its symptoms. Prognosis Overall the prognosis of endometriosis is good, and most women live a normal life. Women can suffer from acute and chronic complications decreasing their quality of life but, in most cases, not affecting their life expectancy. In ⅓ of the cases, the disease spontaneously resolves, but treatment is usually indicated to relieve symptoms, as well as to stop its progression and recurrence after initial treatment. Recommendations Avoid smoking Seek medical help if you experience any symptoms mentioned above Not every case of endometriosis has to be treated with medications or surgery. Home remedies for pain relief, relaxation techniques and a healthy diet can help relieve symptoms and improve your quality of life

### Deep Vein Thrombosis

- URL: https://macromo.com/blog/diseases-risks/deep-venous-thrombosis
- Published: 2023-09-06
- Category: diseases-risks
- Author: Yevhenia Rakhmankina

Observed genes Polygenic score Influential genes: F2, F5, F11 The F11 gene codes for a protein called Factor XI. This protein is important for the proper functioning of the clotting cascade. A specific mutation in the F5 gene, known as Factor V Leiden, can increase the risk of developing DVT. The F2 gene encodes prothrombin, a key factor in the blood clotting process, and certain variations in this gene can increase the risk of developing DVT. Overview Deep vein thrombosis is a condition when a blood clot is formed in one or more of the deep veins in your body, most commonly in the legs. You may experience symptoms like redness, swelling, warmth, pain, or skin discoloration in the affected limb. There are many risk factors that are associated with DVT. Around 40% of cases are attributable to some genetic mutation but usually some other risk factors are present too. These include immobility, trauma, surgery, some chronic illnesses, cancer, oral contraceptives , smoking , pregnancy, etc. The diagnosis is made using different blood tests (D-dimer and coagulation profile) and imaging methods like a duplex ultrasound or venography. There are various treatment options available, such as anticoagulation therapy or thrombolysis. The prognosis is generally good if treated properly, but there is a high chance of complications like post-thrombotic syndrome, pulmonary embolism (PE), and even recurrence of DVT. You can prevent its development by avoiding smoking and oral contraceptives, using compression stockings, and being physically active. Prevalence & Risk factors The prevalence of DVT is often underestimated due to asymptomatic cases. Most commonly it affects the deep veins of lower limbs. The prevalence of lower limb DVT is around 0,1% in the general population. There are many risk factors that promote the development of DVT. Some genetic mutations can increase coagulability (formation of blood clots) but usually the presence of other risk factors is needed before DVT develops. There are multiple acquired factors that can put an individual at risk of getting DVT. These include: Age (after the age of 40 the risk is higher but it can happen at any age) Immobility (due to long flights, bed rest, stroke, etc.) Compression of veins (caused by some tumor, stenosis, or congenital abnormalities) Injury to the vein (due to trauma, surgery catheters, IV drug abuse, etc) Increased blood viscosity (polycythemia vera, dehydration) Increased risk of coagulation (genetic/acquired - cancer, sepsis, MI, HF, SLE, nephrotic syndrome, oral contraception therapy, obesity, pregnancy, hypertension, diabetes, smoking, etc.) The more risk factors a person has, the higher their chance of developing DVT. Genetics Deep vein thrombosis (DVT) is a multifactorial disorder. It can be triggered by several different causes, including surgeries, hormonal therapy, trauma, or inherited risk factors. According to the available data, it is estimated that genetic factors are responsible for about 60% of cases.[2] Many strategies, such as family studies, candidate gene analyses, genome-wide association studies (GWASs), and next-generation sequencing have been used for more detailed identification and description of one's chance to develop DVT.[3] However, Factor V (FV) Leiden is still considered to be one of the main risk factors contributing to DVT, followed by the second most frequent factor of DVT, Prothrombin 20210.[2] Risk factors can be divided into three categories, according to research:[4] Strong genetic risk factors - deficiencies of coagulation inhibitors Moderate genetic risk factors - Factor V Leiden, Prothrombin 20210A, blood group (non-O ABO blood groups are at higher risk) Weak genetic risk factors - variants in MTHFR or FXIII gene Genetic testing allows us to detect whether you have the predisposition to develop this disease and therefore directs us to take steps toward prevention, monitoring, and possible treatment options. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms Deep vein thrombosis most commonly affects the veins of lower limbs. Rarely it can affect veins in arms, mesenteric, or cerebral veins. The person can experience localized symptoms on the affected leg, these include swelling of the affected leg, pain (can feel like cramping or soreness), red or discolored skin, feeling of warmness. The symptoms are usually unilateral, affecting only one leg. But if the thrombus is extending to pelvic veins, the symptoms may be affecting both limbs, although this is a rare case. Diagnosis The diagnosis is made based on the D-dimer levels, coagulation profile, and ultrasound of the veins. D-dimer is a small piece of the protein that is formed when the blood clot is dissolved. A negative D-dimer test excludes DVT but a positive result doesn’t confirm it. Duplex ultrasound can visualize the blood flow through the veins. It is also possible to use venography (visualization of veins using contrast dye and x-ray) or MRI. Therapy The treatment goals are to reduce morbidity and prevent complications of DVT like PE and post-thrombotic syndrome. Most commonly it is treated with blood thinners (anticoagulation therapy), these include heparin, vitamin K analogs, and some coagulation factors inhibitors (rivaroxaban). The other treatment possibility is to dissolve the clots (thrombolysis) injecting medications either by IV access or a catheter, directly into the clot. This method is usually reserved for more serious cases because of the chance of bleeding. Prevention There are various ways to prevent DVT and its complications. Physical activity is really important, regular exercising and staying mobile while traveling (walking at least every 2 hours) can be beneficial. Compression stockings can be used to improve the blood flow in your veins. They can be used during surgeries, long hospital stays, or just at home if you are at risk of DVT. Smoking, hormone replacement therapy, and oral contraceptives increase the risk of DVT so it is recommended to avoid all of it if possible. A diet high in vitamin K can also reduce the risk. You can find it in green vegetables like spinach, kale, Brussels sprouts, etc. For people that are at high risk of DVT, it can be beneficial to use anticoagulation prophylaxis. Prognosis There are several complications that may arise because of DVT. If the clot dislodges from the wall of the vein, it can travel through the veins and heart chambers and end up in the lung arteries. This condition is called pulmonary embolism (PE). Depending on the clot size, it can get stuck in bigger or smaller vessels. If the vessel affected is big enough it can lead to more severe symptoms like sudden shortness of breath, chest pain while inhaling or coughing, rapid breathing, rapid pulse, feeling faint or fainting, and coughing up blood. In cases of a massive pulmonary embolism cardiac arrest can occur. If it’s small, it will be less severe or even asymptomatic. Another complication is post-thrombotic syndrome. It can arise weeks or months after DVT causing chronic pain, swelling, skin pigmentation, and even venous ulcers. Most people will recover with treatment, but these complications are common. For example, post-thrombotic syndrome occurs in 43% of patients 2 years post-DVT. The risk of recurrence is also high, and is around 25%. Recommendations Move at least every 2 hours for a bit, especially when traveling Avoid taking oral contraceptives if not needed or consider other contraceptive methods Consider wearing compression stockings if you can’t move for a long time (e.g. Flights that take longer than 5 hours) Stay hydrated

### Crohn Disease

- URL: https://macromo.com/blog/diseases-risks/crohn-disease
- Published: 2023-09-06
- Category: diseases-risks
- Author: Benjamin Spanyi

Observed genes Polygenic score Influential genes: NOD2,IL10,NLRP12 NOD2 is a gene that plays a role in the innate immune system. Mutations in the NOD2 gene have been strongly associated with an increased risk of developing Crohn's disease. IL10 helps maintain the balance between pro-inflammatory and anti-inflammatory responses in the gut. Genetic variations in IL10 have been linked to an increased risk of developing Crohn's disease. NLRP12 gene variations are linked to an elevated risk of Crohn's disease. NLRP12 regulates inflammatory cytokine production and influences the immune response in the gut. Overview Crohn's disease (CD) is a chronic inflammatory condition that can affect any part of the gastrointestinal tract. No singular cause of the disease has been identified, and the mechanism by which it arises is incompletely understood. It is an autoimmune disorder, in which the body’s own immune system attacks the body’s digestive tract. It is generally accepted that a plethora of contributing factors is at play in CD, including immunological, environmental, and genetic. CD manifests with so-called ‘skip lesions’, i.e. patches of transmural inflammation of any part of the gastrointestinal tract, with stretches of normal tissue in between. The inflammation can lead to a number of debilitating symptoms, such as chronic abdominal pain, perianal fistulas, diarrhea, and constipation. Prevalence & Risk factors The prevalence of CD differs based on the region, with the highest being in Europe (322 cases per 100,000 people in Germany) and Canada (319 cases per 100,000) 2 . Although the pathogenesis of CD is very complex, the increase in the number of new cases in the recently industrialized countries hints at environmental risk factors common in Western and industrialized societies – including mainly diet and lifestyle. Studies on people who have emigrated from a non-industrialized country to an industrialized destination have shown an increased risk of developing CD, compared with the general population. The only modifiable risk factor for Crohn’s disease that has been identified is smoking. It increases the risk of CD by a factor of 2, while, however, being dependent on gender, age, and ethnicity. Furthermore, one of the commonly described features of CD is a change in the composition of the intestinal microbiome, which has a proven effect on the immunological functioning of the gut. Among many other influencing factors, diet is extremely likely to have an effect on the microbiome, which has the capability of dynamic change. Low fiber intake and frequent switching between high-fiber and low-fiber food have led to unfavorable changes in the gut microbiome, leading to an increased risk of developing CD. On the other hand, adhering to a Mediterranean diet has proven itself beneficial in terms of the development of late-onset Crohn's disease. Genetics The genetic component of Crohn's disease has been researched heavily in recent years. Concordance rates of CD among monozygotic twins (as determined by twin studies) have been estimated at ~50%, which is higher than in ulcerative colitis, the other major inflammatory bowel disease. A well-known coding variation in the gene NOD2 is known to be selectively associated with CD risk. Nevertheless, there are more than 200 various genetic loci that have been associated with CD. Each of these, however, increases the risk only by a relatively small percentage. It has been shown that only ~13-13.5% of the heritability of CD can be explained by strictly genetic factors 6 , which hints at the relatively high importance of epigenetic and environmental factors (such as cultural diet). Signs & Symptoms The most common problems of patients with Crohn's disease include recurrent abdominal pain, chronic diarrhea, and unintentional weight loss. These digestive complications arise due to ulcers which are a result of the ongoing inflammation in the digestive wall. The most commonly affected part of the tract is the ileum – the last part of the small intestine. There are also less common symptoms pertaining to the body outside of the digestive tract, such as joint and skin problems, and eye redness. There are multiple types of Crohn's disease, based on the clinical picture they give rise to: inflammatory, fibrostenotic (scar tissue causes narrowing of the section of the gastrointestinal tract), and penetrating (fistulas between various parts of the tract arise). These types can all occur in the same patient. CD symptoms typically occur in variable cycles of flares and periods of remission. Ongoing treatment during both flares and remission is vital to increase the chance of long periods without symptoms. Diagnosis Diagnosis of CD is not based on a singular clinical finding and thus it can be challenging for the clinician. The gold standard method for establishing a diagnosis of Crohn's disease is ileocolonoscopy, and by taking a biopsy. However, in order to make a definite diagnosis, a holistic approach must be employed, involving assessment of symptoms, imaging, as well as biomarkers. Most commonly used biomarkers are ASCA (positive rate in CD is around 60-70%) 5 , and fecal calprotectin. Calprotectin is a protein which is present in neutrophils (i.e. immune cells), and is released in inflammation. Its presence in feces is both sensitive and specific for CD. There are also other modalities, such as small-bowel capsule endoscopy, in which a small capsule is swallowed and it wirelessly transmits images of the intestinal lining to a computer – however, this is reserved for specifically indicated patients. For the purpose of fully assessing the disease, ultrasound, CT and MRI are crucial. Therapy The management of Crohn’s disease has developed significantly over the past 10 years, and it includes both pharmacological and surgical approaches. The primary objectives of care are steroid-free remission, increased quality of life, and low number of complications. The main focus of pharmacological therapy is to achieve healing of the intestinal mucosa. This is associated with improved outcomes for the patients both in the short-term and the long run. How this is achieved is based on stratification of the patients, according to their age, part of intestine affected, severity, and other prognostic factors. Most commonly used medications include steroids, 5-aminosalicylates and sulfasalazine, immunomodulators, and biologic response modifiers. All of these aim at reducing the inflammation in the wall of the intestine. There are specific indications and contraindications for each of these that should be consulted with the treating physician. The surgical approach is used when medication no longer suffices in controlling the symptoms and problems associated with CD. Most CD patients will need surgery at some point throughout the disease progression. Among the most common surgeries for CD is the removal of the diseased parts of the intestine/colon, and strictureplasty, i.e. opening sections of critically narrowed bowel that lead to blockages. Prevention There is no definitive method to prevent Crohn’s disease. However, smoking cessation has great benefits also in this area. Moreover, consuming a diverse, full mediterranean-style diet can be of benefit. Prognosis Crohn’s disease is a chronic, progressive and destructive disease. There are multiple prognostic factors, such as age at diagnosis, smoking, disease duration, laboratory marker levels, deep ulcers on endoscopy etc., which are associated with a worse prognosis. This translates to a possibly higher risk of relapse and/or a more complicated disease progression. Moreover, extensive CD also predisposes to colon cancer and thus all CD patients are recommended to start screening colonoscopy early. Recommendations If you suffer from chronic abdominal pain and/or disruptions in bowel movements, consult your physician Smoking cessation, Mediterranean diet, and regular exercise may be beneficial

### Chronic Periodontitis

- URL: https://macromo.com/blog/diseases-risks/chronic-periodontitis
- Published: 2023-09-06
- Category: diseases-risks
- Author: Nuno Lemos

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: LBP,GRIK1,TGIF1 Genetic variations in the LBP gene have been connected to its altered levels and the susceptibility to periodontal diseases. Elevated GRIK1 expression have been seen in inflamed periodontal tissues, that indicates a potential involvement in periodontitis. Expression of TGIF1 has been found to be upregulated in periodontal tissues of individuals with periodontitis when compared to those who are in a healthy state. About Chronic Periodontitis Chronic periodontitis is a chronic inflammation of the gums, caused by the accumulation of large amounts of dental plaque. At first, it may appear with few symptoms of irritation, swelling, and redness, and slowly progress into the chronic stage over time. What are the complications? A delay in diagnosis may result in severe and irreversible damage directly to the teeth and their supporting structures. Advanced stages can put you at danger of local infections and even systemic complications like sepsis. Recommendations The best strategy to prevent periodontitis is to follow good oral hygiene. Make regular dentist appointments (every 6 or 12 months, unless indicated otherwise by your dentist) to catch any early signs of the disease.

### Chronic Obstructive Pulmonary Disease

- URL: https://macromo.com/blog/diseases-risks/chronic-obstructive-pulmonary-disease
- Published: 2023-09-06
- Category: diseases-risks
- Author: Yevhenia Rakhmankina

Observed genes Polygenic score Influential genes: CSMD1 The CSMD1 gene is linked to higher susceptibility to COPD, but its specific role in the disease is still under investigation. Overview Chronic obstructive pulmonary disease (COPD) is a group of disorders consisting of chronic bronchitis and emphysema. It has a high prevalence and is the 3rd leading cause of death worldwide. Most cases of COPD develop because of smoking. Other factors that may contribute are environmental air pollution, occupational exposure to various irritants, and genetics. The symptoms vary in intensity depending on the severity of the disease. The early stages may be asymptomatic, otherwise, you can experience cough with sputum production, shortness of breath, fatigue, etc. The diagnosis is based on the patient's medical history, physical examination, blood tests, and pulmonary function tests. The goals of treatment are mainly relieving symptoms, slowing progression, and preventing exacerbations. The most important factor in treating and preventing COPD is smoking cessation. Various complications, like heart problems, respiratory infections, lung cancer, and others can arise due to COPD development. It can also lower the life expectancy in more severe cases. Prevalence & Risk factors The prevalence of COPD is estimated to be 7,6% [1] and it is the 3rd leading cause of death worldwide, according to WHO. The development of COPD is influenced by an interaction between environmental and genetic factors. The most significant risk factor is smoking (active or passive), it damages the air sacs, airways, and the lining of your lungs. Around 90% of COPD cases are attributable to smoking but only 25% of smokers develop COPD. Smoking can not only be the cause of COPD but also lead to acute flare-ups of the disease. Other risk factors include air pollution, occupational exposure to dust, fumes or chemicals, asthma in childhood, premature birth, etc. Genetics COPD development is influenced mostly by environmental factors, but multiple genes can increase the likelihood of the disease. Alpha 1 antitrypsin deficiency (AATD) is a rare hereditary condition (with autosomal codominant inheritance) that is responsible for 1% of COPD cases. There is a lack of protein - alpha 1 antitrypsin - that protects the lung from the damaging effects of inflammation. It leads to a higher chance of COPD development and liver problems (this protein is secreted in the liver). Signs & Symptoms COPD is a group of diseases that includes chronic bronchitis (inflammation of the lining of bronchial tubes) and emphysema (breakdown of the walls of the tiny air sacs (alveoli) at the end of the bronchial tubes). Symptoms usually don’t occur until there is significant lung damage and they get worse over time as the disease progresses. The symptoms include cough with sputum production, shortness of breath, wheezing, chest tightness, a lack of energy, frequent respiratory infections, and weight loss in later stages. People with COPD can experience exacerbations - a worsening of symptoms that lasts usually for several days. Around 70% are triggered by respiratory infections, otherwise, it can be triggered by environmental pollution or some other less common causes. Diagnosis The diagnosis is based on medical history, physical examination, blood tests, and different breathing tests. Spirometry is the most common lung function test that shows how well the lungs work. Chest X-rays or CT scans can detect lung changes like emphysema. An arterial blood gas analysis is performed to determine how well lungs are bringing oxygen and removing carbon dioxide. Therapy COPD is a progressive but treatable disease. The therapy is focused on relieving symptoms, preventing respiratory infections, and reducing the risk of complications. The most essential step that improves the symptoms is quitting smoking. Bronchodilators can help with breathing difficulties and steroids can reduce the inflammation in the lungs. Antibiotics are commonly prescribed to treat or prevent respiratory infections. For some people with severe emphysema, surgery may also be a treatment option. Prevention Smoking cessation has the most important impact on the prevention of COPD. It is also recommended to reduce environmental exposure to various harmful fumes, gasses, vapors, particulate matter, etc. It is also important to get vaccinated against the flu (influenza) and pneumococcal pneumonia to prevent respiratory infections. Prognosis COPD may lead to different serious complications: heart problems, lung cancer, pulmonary hypertension Recommendations If you experience symptoms like shortness of breath, cough, fatigue, please contact your doctor. Improve your health by physical activity and cessation of smoking. Avoid exposure to environmental and occupational air pollutants.

### Cataract

- URL: https://macromo.com/blog/diseases-risks/cataract
- Published: 2023-09-06
- Category: diseases-risks
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: SOX2-0T, SLC24A3, EPHA4 SOX2-0T gene has been previously associated with the cataract development. SLC24A3 gene has been shown to be connected to retinal diseases, including cataract. Variations or mutations in the EPHA4 gene may contribute to the development of cataracts. About Cataract A cataract is a disease in which the lens of the eye becomes cloudy, causing a deterioration of vision, resembling looking through a dirty glass. It is mostly an acquired disease and accounts for a large number of cases of blindness in developing countries. In developed countries, it is commonly treated with quick and safe surgery. What are the complications? You may not notice any changes in your vision at the beginning, but as the cataract grows it causes blurry vision, interfering with your daily activities, such as reading or driving. If left untreated, the cataract may cause total blindness. Recommendations While there's no proven method to prevent cataracts, some lifestyle factors are known to help you maintain eye health. Quitting smoking, reducing your alcohol intake, as well as eating a healthy diet rich in fruits and vegetables can decrease your chances of developing the disease. Wear sunglasses to protect your eyes from ultraviolet radiation.

### Atrial Fibrillation

- URL: https://macromo.com/blog/diseases-risks/atrial-fibrillation
- Published: 2023-09-06
- Category: diseases-risks
- Author: Hana Voberkova

Observed genes Polygenic score Influential genes: LINC01681,KCNN3,ZFHX3,SH3PXD2A,NEURL1 KCNN3 gene encodes a potassium channel involved in the regulation of cardiac electrical activity. ZFHX3 regulates gene expression in cardiac development and function. Changes in this gene have been associated with atrial fibrillation. Mutations in the SH3PXD2A gene have been linked to the development of atrial fibrillation. Overview Atrial fibrillation (AF) is the most common cardiac arrhythmia in adults. Simply put, a cardiac arrhythmia is a deviation from the normal heart rate and/or rhythm that is not physiologically justified. (1) To understand atrial fibrillation, it is necessary to take a look at how the heart works. The heart is to some extent an autonomous organ. Instead of the central nervous system (the brain), the impulses for the heart rhythm originate directly in the myocardium (heart muscle) in modified cardiomyocytes (individual muscle cells), which together form the heart's electrical conduction system. This characteristic feature is called the heart’s automaticity. Fig 1: The conduction system of the heart | The University of Nottingham (5) The normal, physiological heart rate is called the sinus rhythm and it is generated and maintained by the sinoatrial (SA) node, a bundle of pacemaker cells in the upper wall of the right atrium (upper chamber of the heart). The pacemaker cells of the SA node generate an action potential (an electrical signal), which then propagates to the surrounding cells to induce synchronized atrial contraction and, after a small time delay, also the contraction of ventricles (lower chambers of the heart). Therefore, if everything works properly the number of impulses generated in the SA node per minute corresponds to the heart rate. The signal generated by the SA node travels very fast through the right atrium - first to the left atrium so that the contractions of the left and right atria are in sync. After that the signal continues to the atrioventricular (AV) node, which is found at the bottom of the right atrium. The AV node conducts the excitation very slowly, which causes a delay in atrioventricular transmission - it is a desired pause, because it is necessary to complete the contraction of the atria first, and only then to start the contraction of the ventricles. From the AV node the impulses continue down the conduction pathway via the bundle of His into the ventricles. The bundle of His divides into right and left pathways called the bundle branches to stimulate the right and left ventricle. In the ventricles the signal is transferred by the Purkinje fibers which is the final step before transmitting the electric charge to the heart muscle. Coming back to the matter at hand, the pathology of atrial fibrillation is caused by electrical signals, which do not originate in the SA node but fire from multiple locations in the atria (typically near the exit of pulmonary veins, that transfer oxygenated blood from the lungs to the left atrium), causing them to beat chaotically. Because of the ineffective, uncoordinated contraction of the atria, blood can stagnate and form clots (thrombi) in the heart’s auricle, a small natural outbulging of the atria. From there the thrombus can be expelled into the body's circulation and block another blood vessel, which can affect multiple organs, cause organ damage and even death. The atrial rate is usually 300-600/min, while the ventricular rate is 80-180/min. That is because the atrioventricular node blocks the transfer of most atrial contractions to the ventricles. This protects the ventricles from exhaustion. Since the AV node doesn't prevent all of these chaotic signals from progressing onto the ventricles, the heart tends to beat faster and in an irregular rhythm. (2) Fig 2: Atrial fibrillation | Mayo Clinic Traditionally, atrial fibrillation is divided into five patterns based on presentation, duration, and spontaneous termination of AF episodes: First diagnosed AF - every AF identified for the first time, no matter the duration or the presence and severity of related symptoms Paroxysmal - AF that terminates spontaneously (or after intervention) within 7 days of onset Persistent - AF that lasts for more than 7 days or requires cessation with cardioversion (a procedure used to return an abnormal heartbeat to a normal rhythm) between 48 hours to 7 days duration Long-standing persistent - continuous episodes of AF extending beyond 12 months Permanent - AF that is accepted by the patient and physician, and no further attempts to restore/maintain sinus rhythm are undertaken (4) It is clear from this classification that episodes of atrial fibrillation may come in waves or they may be omnipresent. Although atrial fibrillation itself is usually not life-threatening, it is a serious medical condition that requires proper treatment to prevent stroke and/or other associated complications. (2) Prevalence & Risk factors Prevalence of AF increases significantly with age, especially in people over 50 years of age. Between the ages of 60 and 70 it occurs in up to 10% of the population. (1, 3) A gradual rise of prevalence is expected in the upcoming years as the average life expectancy of the general population increases and the search for undiagnosed AF becomes more intense. The lifetime risk depends on age, genetic and (sub)clinical risk factors. Studies suggest that an early intervention and control of modifiable risk factors could reduce the incidence. (4) Genetics Atrial fibrillation is a complex disease whose pathogenesis involves combined environmental and genetic factors. (6) In recent decades, family aggregation of individuals with lone atrial fibrillation has been observed in many studies. In a study of 1137 identical twins, the heritability (fraction of the trait explained by genes) of AF was estimated to be as high as 62%, suggesting that genetic factors play a substantial role in the risk of AF (7). A more recent study also concluded that genetic variation contributes significantly to AF risk. (8) The principle of the relationship between the risk of atrial fibrillation and genomic variability is similar to several other cardiovascular diseases, such as hypertension and myocardial infarction. Established loci (position on a chromosome where a particular gene is located) explain only a small part of the disease risk, suggesting that further genetic discovery (focused on common genome variations) is needed to understand the causal genetic basis of AF (8). Signs & Symptoms In many people, atrial fibrillation may be asymptomatic (silent) for a long time. However, in others it can cause a broad spectrum of symptoms (1, 3, 4): Palpitations Shortness of breath Fatigue Chest tightness / pain Poor effort tolerance Dizziness Disordered sleep etc. Unfortunately, it also happens quite often that the initial manifestation is a serious condition caused by the arrhythmia. These include (4): Syncope Symptomatic hypotension Acute heart failure Pulmonary oedema Ongoing myocardial ischaemia Cardiogenic shock Dilated cardiomyopathy Stroke Cognitive decline / vascular dementia Diagnosis Atrial fibrillation is often discovered randomly during a physical exam, when a doctor is listening to the heart with a stethoscope. To confirm the diagnosis and exclude other possible causes of the rapid heart rate, other tests are needed. These tests may include (2): Electrocardiogram (ECG) - it is a quick and painless test, which records the electrical signal from the heart to check for different heart conditions; it is the main examination in the diagnosis of AF Echocardiogram - it is a type of ultrasound scan used to look at the heart Blood tests - to exclude other causes such as hyperthyroidism (overactive thyroid gland) Holter monitor - it is a type of portable ECG; it records the electrical activity of the heart while you are away from the doctor's office (usually for 24 hours) Exercise stress test - usually involves walking on a treadmill or using an exercise bike Therapy The aim of the treatment of atrial fibrillation is (2): To establish and maintain the sinus rhythm Drug cardioversion - medications given through an IV or by mouth are used to reset the heart rhythm (2) Electrical cardioversion - to reset the heart rhythm, controlled electric signals are sent to the heart through electrodes placed on the chest; electrical cardioversion is more effective and safer compared to drug cardioversion (2) To establish and maintain an optimal heart (ventricular) rate Pharmacological treatment - the most common types of medication to control the heart rate are beta blockers, calcium channel blockers, digoxin and other antiarrhythmic medications (e.g. Amiodaron) (2) Non-pharmacological treatment - if the pharmacological treatment doesn’t work, a procedure called cardiac ablation might be recommended. Cardiac ablation uses heat (radiofrequency energy) or extreme cold (cryoablation) to form tiny scars in your heart to block abnormal electrical signals and restore a normal heartbeat. The operation is done through a blood vessel with a flexible tube (catheter). Sensors on the tip of the catheter apply the cold or heat energy to perform the scaring. (2) To prevent blood clots formation and thromboembolic complications (9) Patients at low risk of thromboembolism - antiplatelet therapy Patients at high risk of thromboembolism - anticoagulation therapy Prevention From what we know about the disease, not all cases of atrial fibrillation can be prevented. However, by taking steps to avoid underlying clinical conditions which are known to increase the overall risks (such as hypertension, COPD and type 2 diabetes), you can substantially reduce the risk of developing AF due to these causes. These steps include (10): Controlling the blood pressure Controlling the blood cholesterol Using smartwatches keep track of the heart rate and the ECG Avoiding or limiting alcohol intake Not smoking Heart-healthy diet (high in plant-based foods, fruits and vegetables, healthy fats from e.g. olive oil and low in saturated fats) Cutting down on caffeine Getting treatment for an overactive thyroid gland Regular exercise Keeping a normal weight Reducing stress Prognosis Most people with AF are able to live normal lives. However, it is important to note that patients with atrial fibrillation have increased morbidity and mortality compared to patients with sinus rhythm. The primary cause of increased morbidity in atrial fibrillation are thromboembolic events. The risk of stroke is increased approximately fivefold, depending on the other risk factors for thromboembolism. Atrial fibrillation is also associated with cognitive decline, including vascular dementia. It can impair quality of life and reduce tolerance to physical exertion. AF itself can also worsen or induce heart failure. (11) Recommendations If you had AF in the past, but have a normal heart rhythm now, consult with your doctor what you can do to keep it from happening again Improve your cardiovascular health by: Healthy diet Physical activity Normal weight Good quality sleep Managing blood sugar Managing blood pressure Managing blood cholesterol

### Alzheimer's disease

- URL: https://macromo.com/blog/diseases-risks/alzheimers-disease
- Published: 2023-09-06
- Category: diseases-risks
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: NON-CODING The APOE gene is associated with the risk of developing late-onset AD. The APOE -ε4 allele is the strongest known genetic risk factor. About Alzheimer's Disease Alzheimer's disease is a neurologic disorder that causes brain cell damage, resulting in atrophy of the brain. It may start with memory loss (forgetting events and conversations), and gradually progress, causing loss of brain function and severe decline in thinking, behavioral and social skills. What are the complications? As the disease progresses, it may cause severe memory loss and physical impairment, preventing the affected person from carrying out even simple everyday tasks. Recommendations It is currently impossible to treat Alzheimer's disease. However, modifying your lifestyle might be highly beneficial: exercising regularly, eating a healthy diet, and managing your other conditions, such as high blood pressure or high cholesterol, can significantly lower your risk of developing the disease.

### Allergies

- URL: https://macromo.com/blog/diseases-risks/allergies
- Published: 2023-09-06
- Category: diseases-risks
- Author: Yevhenia Rakhmankina

Observed genes Polygenic score Influential genes: FLG-AS1,SH2B3, Interleukins Mutations in the FLG-AS1 gene encoding filaggrin are associated with atopic dermatitis and also in conditions such as asthma and allergic rhinitis. Variants in the SH2B3 gene have been associated with various immune-related disorders, including allergies. Interleukins (ILs) play crucial roles in immune regulation, including the development and modulation of allergic responses. Overview Allergies occur when the immune system reacts to some allergens, producing antibodies and causing inflammation. These are commonly grass and tree pollen, dust mites, food (particularly nuts, fruit, and shellfish), insect bites and stings, medicines (including ibuprofen, aspirin, and certain antibiotics), latex, mold, and household chemicals, but here are many other known allergens There are several ways in which allergies can present: a runny nose, itchy red skin, swollen face and lips, difficulties breathing, and even anaphylaxis (a life-threatening condition due to a massive overreaction of the body in response to an allergen). The diagnosis is based on medical history and a physical examination. A skin prick test should be performed to identify the specific allergens. There are several treatment options available nowadays, but avoiding the triggers remains the best way to prevent symptoms from arising. Prevalence & Risk factors Around 150 million EU citizens suffer from chronic allergic diseases. Approximately half of them are underdiagnosed and poorly managed. It is estimated that by 2025 50% of Europeans will suffer from at least one type of allergy. Allergic diseases are complex genetic diseases resulting from the effect of multiple genetic and environmental factors. Genetic factors are the most important and family history greatly increases the risk for allergy development. Other risk factors include sex (males are affected more often) and age (much higher susceptibility to allergic sensitization in early life). Whether the exposure to allergens early in life is considered a protective or risk factor is still subject of scientific debate. Passive smoking, pollution, and certain infections on the other hand have been associated with an increased risk of developing allergies (especially respiratory viral infections are associated with bronchial asthma and onset of sensitization). Genetics Allergy is a hypersensitive inflammatory immune response to environmental antigens (substances which induce an immune response). The development of allergies is still not fully understood, but both environmental and genetic components are considered as important factors. [1] Studies focused on the relation of allergies and family history observed a higher risk of developing asthma, atopic dermatitis (AD) or allergic rhinitis (AR) when one or both parents are affected. Despite technological and methodological progress, family history is still one of the most reliable tools for establishing the prognosis. However, Genome Wide Association Studies (GWAS) are being widely used in research on allergies. [2] The previously used method for mapping genes associated with allergic diseases was linkage analysis, which was used between 1980–1990. Nowadays, association studies of candidate genes are being used instead. They identify genetic variants associated with the disease/trait by scanning the genomes of many people, searching for variants that occur more in affected individuals compared to the healthy controls. Associated genes include those involved in barrier function (e.g. FLG ), cytokines, and other inflammatory genes (e.g. IL13 ), genes involved in T-cell differentiation and function (e.g. HLA genes). Specifically, genes DPP10, CD14, or IL4 are connected to asthma , genes COL6A5 , FLG, TLR9 are connected to AD and genes FLG , S100A7, HDC are associated with AR . [1] Allergies are a very complex group of diseases and the research is ongoing. Due to this, we use Polygenic Risk Score (PRS) to determine the genetic risk. The PRS is an estimate of the probability that an individual carries a given trait based on genetics, without considering environmental factors. [3] Signs & Symptoms Allergies can present themselves with many symptoms including itchy body parts (mouth, nose, skin), a runny nose, swelling of the affected area, cough, and in the worst cases it can develop into a life threatening condition known as anaphylaxis. Most allergic conditions start in childhood and often don’t persist into adulthood. You can be allergic to various things like dust mites, pollen, cat or dog fur, food (especially peanuts), drugs (for example penicillin), different plants, etc. Anaphylaxis is a life-threatening condition that needs to be managed swiftly, otherwise, a closure of the airways and circulatory collapse could have fatal consequences. Diagnosis Medical history, physical examination and a skin prick test are the basic steps in identifying allergies. The doctor or nurse will prick the patient’s skin and expose it to different allergens. If they are allergic, they will develop a visible reaction - a small bump (hives). A blood test can also be performed and it will show increased levels of IgE antibodies. Therapy There are several treatment options available. Avoiding the triggers is the best way to prevent the development of symptoms. Other symptomatic treatments can include antihistamines, topical therapies for atopic dermatitis, nasal decongestants for allergic rhinitis, and bronchodilators for asthma. Oral immunotherapy is a new option used for severe allergies that are resistant to symptomatic treatments and is meant to desensitize the individual to certain allergies. Anaphylaxis has to be managed quickly by calling an ambulance and using an EpiPen (adrenalin intramuscular injection). People with known severe allergic reactions often carry EpiPens with them. Prevention The prevention of symptoms is mostly based on avoiding triggers and taking the prescribed medications. Breastfeeding or using hypoallergenic formulas can prevent allergy development in newborns. The results of studies on whether allergens should be withheld from babies or not are still inconclusive. Prognosis Many children outgrow allergies over time (especially food and medications allergies) but some can persist into adulthood and influence the person’s quality of life. Around 2% of anaphylactic reactions can be fatal. If you suffer from any allergy, let your healthcare provider know so they can advise you on the best possible management and possible adverse drug reactions that can be prevented. Recommendations Tell your healthcare provider about allergies you suffer from Improve your health by avoiding known allergies. Breastfeed your baby if possible to prevent the development of allergies in the future. In case of anaphylaxis, use an EpiPen and call the ambulance.

### Age-Related Hearing Impairment

- URL: https://macromo.com/blog/diseases-risks/age-related-hearing-impairment
- Published: 2023-09-06
- Category: diseases-risks
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: GJB2,TRIOBP Variations in the GJB2 gene have been associated with a higher risk of age-related hearing impairment. The TRIOBP protein is localized in the rootlets of hair cell stereocilia and provides stability and rigidity. About Age-Related Hearing Impairment Age-related hearing loss usually manifests itself after the age of 65 and affects both ears equally. In addition to family predispositions, other risk factors - diabetes, loud environments and smoking - also influence the development of the disease. Affected individuals may have difficulties hearing what other people are saying. What are the complications? Age-related hearing loss is a common problem among the population. Due to its insidious onset people often don't realise their hearing worsens and refuse treatment. Recommendations Protect yourself from loud noises as those can contribute to the development of the condition. Choose a healthy lifestyle to avoid other age-related diseases that can affect your hearing. If you notice the first signs of hearing loss, talk to your doctor.

### Celiac Disease

- URL: https://macromo.com/blog/diseases-risks/celiac-disease
- Published: 2023-09-06
- Category: diseases-risks
- Author: Luisa Gaspar

Observed genes Polygenic score Influential genes: TSBP1,HLA-DQB1,HLA-DPB1 Variants in HLA-DQB1 gene has been found to increase the risk of Celiac disease. TSBP1 gene has been also associated with celiac disease in an independent Dutch cohort representing European ancestry​. The HLA-DPB1 gene variant is associated with celiac disease in a protective way. Overview Celiac disease is an immune-mediated systemic disorder characterized by an intestinal hypersensitivity to gluten and, more precisely, gliadin. Gliadin belongs to the group of gluten peptides found in wheat, rye, and barley. When gliadin comes into contact with the intestinal mucosal lining, it triggers an immune response that, over time, leads to atrophy of the villi of the small intestine. Villi are threadlike projections from the surface of our intestine that serve to increase its surface area. The small intestine is responsible for absorbing nutrients such as vitamins and minerals through the villi. When they become atrophied, it reduces the surface area for absorption of the nutrients, which leads to malabsorption. Prevalence & Risk factors Celiac Disease is more common in people of Northern European ancestry. It is estimated that it affects 1 in 150 people in Europe and around 1 in 250 in Japan and USA. Females are twice more affected as males. People with other autoimmune disorders and/or chromosomal abnormalities such as Down syndrome, Hashimoto’s thyroiditis, and type 1 Diabetes Mellitus are at higher risk of developing Celiac Disease. Genetics Celiac Disease is an autoimmune disease whose genetic background is well-described. HLA-DQ2 and HLA-DQ8 (Human leukocyte antigen) variants represent the main genetic determinant of the disease development. Even though genetics play a significant role, the contribution of environmental factors is also crucial. Its prevalence in the general population is estimated to account for about 1%. The frequency of aforementioned variations is notably higher in Northern and Western Europe, explaining the higher incidence of Celiac Disease in these regions. Recurrences in families account for about 10–15% of cases and demonstrates that the disease has a strong hereditary component. This is also evidenced by the high incidence among monozygotic twins (75-80%), compared to only about 11% in dizygotic twins. [1,2] Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms Symptoms of Celiac Disease can vary significantly. In children, it usually causes failure to thrive, muscle weakness, abdominal distension, and lack of appetite. Diarrhea and soft, clay-colored stools are also common. However, in adults, weakness and lack of appetite are usually the motivating symptoms to visit a doctor. Mild and episodic diarrhea and steatorrhea (foul-smelling, fatty diarrhea) can also occur. Manifestations outside of the intestines include: Aphthous ulcers. Stomatitis (inflammation of the gums). Glossitis (inflammation of the tongue). Arthritis (inflammation of joints). A specific skin manifestation affecting 10% of the patients with Celiac Disease is Dermatitis Herpetiformis, an itchy rash distributed over the area of the elbows, knees, shoulders, and buttocks. Celiac disease is often accompanied by malabsorption of vitamins and minerals, primarily vitamin D and calcium. Therefore it often leads to bone disorders, such as osteoporosis and osteomalacia. Diagnosis Celiac Disease is considered one of the most commonly underdiagnosed diseases due to its wide variety of presentations. The diagnosis is performed by medical professionals utilizing the following procedures. A blood test looking for specific celiac disease antibodies such as IgA anti-tTG and IgA EMA. A biopsy can be done by taking a small sample of the small intestine tissue, often as a confirmation of the blood test results. Therapy and Prevention A crucial therapeutic measurement in Celiac Disease is prevention by following a stringent, lifelong gluten-free diet. As a result, you need to abstain from the following foods: wheat and spelt rye barley Foods that are safe to eat include but are not limited to: potatoes corn soybeans millet gluten-free oats On the other hand, oats can contain avenin, a protein similar to gliadin and gluten, that can also trigger a sensitive response in some people. It is essential to consult a doctor before adding oats to your food regimen. Vitamin and mineral supplementation might also be needed, such as vitamin D, calcium, and iron. Prognosis If left untreated, Celiac Disease can lead to infertility and increase the risk of developing gastrointestinal cancer. Recommendations Follow a lifelong gluten-free diet: avoid wheat, rye, and barley. Read labels on prepared foods carefully to ensure they do not contain gluten. Remember that non-distilled drinks contain gluten, such as beer, ales, and malt vinegar. Oats should be carefully introduced into your diet under medical supervision. Consulting a nutritionist can help you to adjust your diet.

### Age-Related Macular Degeneration

- URL: https://macromo.com/blog/diseases-risks/age-related-macular-degeneration
- Published: 2023-09-06
- Category: diseases-risks
- Author: Yevhenia Rakhmankina

Observed genes Polygenic score Influential genes: CFH, ARMS2, HTRA Variations in CFH gene can sometimes incorrectly target the body's healthy cells, including cells in the retina. Mutations in the ARMS2 gene have been associated to both the development of AMD and its progression to advanced stages. Mutations in the HTRA gene have also been connected to the development of AMD and its progression. Overview Age-related macular degeneration (AMD) is a disease that affects a person's central vision. There are two types: dry (atrophic or nonexudative) and wet (neovascular and exudative) macular degeneration. The dry type is more common (80%) and has a characteristic of slower progression, whereas the wet type is more aggressive and can progress to a loss of central vision in a period of a few days to a few weeks. The symptoms (in both types) include blurry vision, inability to recognize faces, blind spots, difficulties reading, distorted lines, etc. 170 million people worldwide suffer from AMD and it is a leading cause of adult blindness in developed countries. [1] The risk factors for AMD development are genes, race, ethnicity, age, a family history of AMD, smoking, alcohol consumption, unhealthy diet, chronic medical conditions, cataract surgery, and certain medications. The diagnosis is based on the history and various examination methods (visual acuity test, retina examination, etc.). The treatment consists of smoking cessation, blood pressure control, and vitamin and zinc supplements. Additionally, for the treatment of wet-type AMD, we can use VEGF (vascular endothelial growth factor) inhibitors. You can prevent AMD development and progression through some lifestyle modifications (smoking cessation, healthy diet, and physical activity). Prevalence & Risk factors The global prevalence of AMD is estimated to be 170 million. [1] Age-related macular degeneration is a leading cause of adult blindness in developed countries. It varies among racial and ethnic groups (more prevalent in White than Black persons, the intermediate prevalence in Hispanic and Chinese). It also increases with age (after 50 years of age) and becomes more pronounced after age 65. People with a family history of AMD typically have an early-onset and more severe disease. Other risk factors for developing AMD are smoking, alcohol consumption, unhealthy diet, chronic medical conditions (stroke, CAD, hypertension, AIDS, myeloproliferative diseases), cataract surgery, and some medications (aspirin, nitroglycerin, beta-blockers). Genetics Age-related macular degeneration is a complex disease that results from both genetic and environmental factors. Examples of well-known environmental risk factors contributing to disease development are age and the habit of smoking, however, gender, race, the health of the cardiovascular system, and diet are also associated with this condition. About half of AMD cases are caused by genetics, with the CFH and ARMS2/HTRA1 genes being the most well-known and described. It is important to consider all the factors when you want to take some preventive steps. Technological advances allowing the analysis of whole genomes and underlying molecular pathways, instead of just individual genes, have facilitated and accelerated the process of discovering new genetic associations with many common complex diseases, not just AMD. Genetics is estimated to contribute to approximately 50% of AMD cases. Results from previous family studies, twin studies, and segregation analyzes were examined by the researchers, and in the case of an affected first-degree relative, a higher risk was found than in controls without a positive family history - resp. 23.7% vs 11.6%. Specifically, imbalance and dysregulation of the complement system ( CFH gene on chromosome 1) appear to play an important role in the development of AMD. However, genes not involved in complement pathways have also been identified, e.g. the ARMS2/HTRA1 locus on chromosome 10. This locus is thought to be associated with a population risk of up to 57%. [2-4] Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms There are 2 types of AMD: dry (atrophic or nonexudative) and wet (neovascular and exudative). Dry AMD is the most common and comprises around 80% of cases. The loss of vision in this case is usually slow. Early AMD is often asymptomatic, then there is a gradual loss of vision in one or both eyes. It can present as blurry vision, inability to recognize faces, blind spots, and difficulties reading. Wet AMD is less common but it accounts for 80% of cases with severe visual loss or blindness. It is characterized by rapid distortion and loss of central vision over a period of a few days days to weeks. It usually appears in one eye, although the disease is often present in both eyes. Distortion of straight lines (metamorphopsia) is one of the earliest changes seen in wet AMD. Patients may also present with complaints of a dark patch in their central vision (scotoma). Most patients with advanced AMD lose central vision, but they rarely lose their peripheral vision. In a minority of patients, dry AMD can progress to wet. Diagnosis The diagnosis is based on the history and various examination methods. The doctor can perform a visual acuity test to measure the vision ability at various distances. Pupil dilation can be induced pharmacologically to allow a close-up examination of the retina. Other tests that can be done include fluorescein dye retinal angiography, optical coherence tomography, and fundus autofluorescence. Patients should test each eye daily and immediately report line distortions or scotomas to their clinician. Therapy The treatment varies depending on the type of AMD. For the dry type, the recommendations are cessation of smoking, blood pressure control, and supplementation with antioxidative vitamins (A, C, E) and zinc. These are also used for the treatment of the wet type. Furthermore, wet AMD can be treated with intravitreal (inside an eye) injections of VEGF (vascular endothelial growth factor) inhibitors, for example, ranibizumab. Prevention Healthy lifestyle habits may be helpful in preventing AMD. These include smoking cessation, physical activity, and a healthy diet. The diet should include fruits, green leafy vegetables, fish, and nuts. Nutritional and vitamin supplements (B, E, C, A) should be used as well. Prognosis Significant loss of vision has a great impact on the functional status and quality of life of a person. It limits the ability to safely drive a car and is associated with increased rates of falls and hip fractures. Also, it results in disability and clinical depression in over one-third of patients, but with early and appropriate treatment most adverse outcomes can be prevented. Recommendations If you experience any symptoms, visit your doctor. Improve your health by smoking cessation and physical activity. Keep a healthy diet that includes fruit, green leafy vegetables, fish, and nuts. Take nutritional and vitamin supplements. Patients should test each eye daily and immediately report line distortions or scotomas to their clinician.

### Stroke

- URL: https://macromo.com/blog/diseases-risks/stroke
- Published: 2023-09-06
- Category: diseases-risks
- Author: Yevhenia Rakhmankina

Observed genes Polygenic score Influential genes: ZFHX3,COL4A1,SH3PXD2A Variants in the ZFHX3 gene have been associated with an increased risk of atrial fibrillation, which is a known risk factor for stroke. Mutations in the COL4A1 gene have been linked to a variety of cerebrovascular diseases, including stroke. SH3PXD2A has been identified in genome-wide association studies (GWASs) of stroke and its subtypes as a putative causal gene. Overview Stroke is a disease that occurs when the blood supply of the brain (or an area of the brain) is disrupted. We can divide them into ischemic strokes (85%) - due to narrowing or occlusion of vessels supplying the brain - and hemorrhagic strokes (15%) - due to a rupture of those vessels. The prevalence in Europe is around 5-10%, it affects older individuals much more often. Other risk factors include male sex, race, some lifestyle factors (obesity, low physical activity, alcohol, smoking, etc.), personal or family history of stroke or heart attack, high blood pressure, high cholesterol, diabetes mellitus, obstructive sleep apnea, and cardiovascular diseases. Strokes in young females are often connected to the use of oral contraceptives, diseases making blot clotting more likely, and high amounts of hormones. The typical symptoms and signs of stroke are speech problems, paralysis or numbness of the face, arm, or leg, visual problems, a sudden severe headache, trouble walking, etc. You can recognize stroke signs using a mnemonic FAST. F - face - ask the person to smile (one side of the face may be dropped) A - arms - ask the person to raise both arms (one arm may fall down or can’t be lifted) S - speech - ask the person to repeat a simple sentence (slurred, absent, or strange speech) T - time is brain - call an ambulance! Proper diagnosis can only be done in a hospital, the faster a patient reaches the hospital, the better the prognosis. The therapy depends on the type of stroke. You can lower your chances of getting a stroke by minimizing the risk factors. It is beneficial to lead a healthy lifestyle and control your blood pressure and cholesterol levels. Stroke is the second leading cause of death worldwide and causes serious disability in those who survive. Prevalence & Risk factors The estimated prevalence of stroke in Europe is around 5% in people younger than 75 and more than 10% in people older than 80. There are many risk factors that predispose the individual to stroke. These include: Age (higher than 55), male sex, race (higher risk in African Americans and Hispanics) Lifestyle factors (obesity, sedentary lifestyle, low physical activity, heavy drinking, substance abuse esp. cocaine and methamphetamine, smoking) Personal or family history of stroke or heart attack High blood pressure (the most important risk factor for hemorrhagic stroke) High cholesterol Diabetes mellitus Obstructive sleep apnea Cardiovascular diseases (heart failure, heart defects, irregular heart rhythms - especially atrial fibrillation) Hormones (use of oral contraceptives or hormone replacement therapies with estrogen) Genetics A very small proportion of strokes are attributable to monogenic conditions, the vast majority being multifactorial, with multiple genetic and environmental risk factors. Stroke is a complex syndrome with both modifiable (lifestyle) and nonmodifiable (age, genetics) risk factors. Research suggests that genetic polymorphisms leading to certain syndromes might also influence the risk of stroke. However, even though several variants have been observed, the effect of each variant is considered to be relatively small. The research on underlying genetic causes of stroke is focused on multiple targets: genetic variants leading to monogenic stroke syndromes variants increasing the risk of common stroke syndromes conditions connected to the stroke risk inheritance Disorders such as atrial fibrillation, diabetes mellitus, hypertension, or sickle cell anemia are examples of disorders contributing to the risk of stroke. Family studies and studies of twins are necessary not only for research focused on stroke. The prevalence of stroke has been previously estimated at 12.3% in first-degree relatives of stroke patients vs. 7.5% in the control group of healthy controls relatives. [1,2] Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms Stroke can have various manifestations since it can affect any brain part. Depending on the location of the stroke it leads to different neurological symptoms and signs. These are the most common: speech problems (difficulties speaking or understanding what others say) paralysis or numbness of the face, arm, or legs, typically on one side problems seeing (for example blurred vision on one or both sides) sudden severe headache with vomiting, nausea, dizziness, and altered consciousness troubles walking Diagnosis You can recognize the stroke signs by using a mnemonic FAST: F - face - ask the person to smile (one side of the face may be dropped) A - arms - ask the person to raise both arms (one arm may fall down or can’t be lifted) S - speech - ask the person to repeat a simple sentence (slurred, absent, or strange speech) T - time is brain - call an ambulance! In the hospital, a CT scan will be performed to distinguish between ischemic and hemorrhagic strokes. Other examination methods can include CT-angiography, MRI, and certain lab tests. Therapy Depending on the type of stroke it is managed differently. An ischemic stroke might be treated with a tissue plasminogen activator e.g. alteplase to dissolve the blood clot blocking the artery (IV thrombolysis) or invasive thrombectomy (mechanical extraction of the thrombus using a catheter). If the stroke is hemorrhagic, the treatment is focused on the reversal of blood thinning (anticoagulation) states (stopping all anticoagulants and antiplatelet drugs and administering antidotes if necessary). Blood pressure control is another important part of the treatment of hemorrhagic strokes. Prevention You can minimize the risk of having a stroke by minimizing the possible risk factors. Lifestyle changes can help a lot, it is recommended to have a healthy diet, exercise regularly, stop drinking alcohol, smoking, and using drugs, as well as to avoid using oral contraceptives. It is also important to control your blood pressure, cholesterol levels, and glucose levels. In case you are suffering from obstructive sleep apnea and cardiovascular diseases, you should get treated for those. Prognosis Stroke is a very serious medical condition with high mortality. It is the second most common cause of death worldwide. Those people who survive the stroke might have various long-term neurological deficits (speech problems, paralysis, etc.). They can improve with rehabilitation but the disability can also persist and cause serious deterioration of the individual’s quality of life. Recommendations If you experience face or arm dropping, or speech problems, call an ambulance immediately Time is brain! Don’t underestimate severe, sudden-onset headaches that are unusual for you Improve your health by leading a healthy lifestyle Avoid smoking, heavy drinking, and using drugs

### Skin Cancer

- URL: https://macromo.com/blog/cancer-risks/skin-cancer
- Published: 2023-09-06
- Category: cancer-risks
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: MC1R,SLC45A2,TYR The MCR1 gene is well established in the context of melanoma risk (type of skin cancer). This gene controls the type of melanin pigment that is produced by melanocytes: eumelanin or pheomelanin. The SLC45A2 gene is involved in pigmentation, and its variants have been associated with skin color and susceptibility to skin cancer. The TYR gene codes for an enzyme that plays a key role in the production of melanin, the pigment that gives color to the skin, hair, and eyes. About Skin Cancer Skin cancer is an abnormal growth of skin cells that often results from repeated and prolonged exposure of the skin to ultraviolet radiation. The spectrum of the disease is very wide, ranging from mostly harmless basaliomas to life-threatening melanoma. What are the complications? Although highly treatable when detected early, skin cancer can be aggressive depending on the type, and spread to other organs and tissues. Recommendations To prevent skin cancer, it's important to protect yourself from ultraviolet radiation. Wear sunscreen year-round, avoid tanning beds, wear protective clothing when outside in the sun and try to avoid it at all during the middle of the day. Check your skin regularly for any new growths and formations, and see a doctor if concerned.

### Prostate Cancer

- URL: https://macromo.com/blog/cancer-risks/prostate-cancer
- Published: 2023-09-06
- Category: cancer-risks
- Author: Anna Fiserova

This article is currently being worked on. A more in-depth version will be released soon. Observed genes Polygenic score Influential genes: CASC19,KRT8,CASC8 There is evidence suggesting that CASC19 is upregulated in prostate cancer tissues and may promote prostate cancer progression, but the exact mechanism isn't fully understood. KRT8 encodes a member of the type II keratin family. Dysregulation of keratins has been observed in various types of cancer, including prostate cancer. Variants in the CASC8 region have been linked to an increased risk of various cancers, including prostate cancer. However, its specific role is still under investigation. About Prostate Cancer Prostate cancer is a type of cancer affecting the prostate - a small walnut-shaped gland of the male reproductive system, that produces the seminal fluid. It's one of the most common types of cancer, with a positive prognosis when detected early. Key symptoms of prostate cancer include trouble urinating, blood in the urine or semen, erectile dysfunction, or unintentional weight loss. What are the complications? Prostate cancer can lead to urinary incontinence, urine retention, pain, and blood in the urine. A tendency of metastases to affect bones has been observed. The prognosis is highly variable and not every patient benefits from treatment. Recommendations While there's currently no proven strategy to prevent prostate cancer, you can greatly reduce your risk of developing this disease by exercising, following a healthy diet, and maintaining a healthy weight.

### Colorectal Carcinoma

- URL: https://macromo.com/blog/cancer-risks/colorectal-carcinoma
- Published: 2023-09-06
- Category: cancer-risks
- Author: Anna Fiserova

Observed genes Polygenic score Influential genes: SMAD7 Mutations or alterations in the SMAD7 gene can contribute to the development of various types of cancer, including colorectal cancer. Overview Colorectal cancer (CRC) is a type of cancer that begins in the colon or the rectum. Afterward, it can spread to other organs, most commonly to the regional lymph nodes, liver, lungs, and peritoneum. It has a high prevalence and unfortunately also high mortality. There is a strong genetic linkage - genetic mutations can be inherited or arise de novo. Other risk factors include race, age, family history, diet, smoking, alcohol, obesity, diabetes, IBD, etc. People can be asymptomatic or present with symptoms like a change in their bowel habits, blood on or in the stool, unexplained anemia, abdominal or pelvic pain, bloating, unexplained weight loss, or vomiting. It is recommended to undergo a screening examination (after the age of 50) to diagnose CRC in the early stages (colonoscopy or occult fecal blood test). Other examinations like CT, blood tests, etc. can be done to determine the stage of CRC. The treatment options are surgery, chemotherapy, radiotherapy, immunotherapy, targeted biological therapy, or a combination of those. Prevalence & Risk factors CRC is the third most commonly diagnosed cancer in males and the second in females, according to the World Health Organization. The prevalence is estimated to be 0,7% (5,253,335 people) worldwide and 0,2% (1,536,168 people) in Europe. [1] A lot of various modifiable and non-modifiable risk factors are associated with the development of colorectal cancer. There is a strong genetic linkage, as different mutations can make an individual highly predisposed to this cancer. Ethnicity is another risk factor - African Americans have the highest CRC rates of all ethnic groups and a 20% higher mortality. Lifestyle also plays an important role in CRC development. An unhealthy diet, high in processed meat, red meat, food cooked using high cooking temperatures, and low in fiber can lead to CRC. Other risk factors include age (higher risk after the age of 50), smoking, family history of CRC, colonic polyps, obesity, Diabetes, Inflammatory bowel disease, cystic fibrosis, acromegaly, androgen deprivation therapy, abdominopelvic irradiation, and renal transplantation. Genetics Colorectal carcinoma (CRC) is a heterogeneous disease. It is estimated that less than 10% of patients are affected due to an inherited predisposition to CRC. Hereditary syndromes are divided according to the occurrence of polyposis. The most common syndromes include familial adenomatous polyposis (FAP), MUTYH -associated polyposis (MAP), or those without polyposis such as Lynch syndrome. These syndromes are associated with an elevated risk of developing CRC. Another 25 % of cases are referred to as familial CRC, but unfortunately, it is the least researched area of CRC, however, genomic and transcriptomic research has revealed possibly associated mutations in APC, TP53, and KRAS genes. The majority of cases are thought to develop sporadically. [2,3] Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development. Signs & Symptoms Common signs of colorectal cancer include the following: change in bowel habits (c onstipation , diarrhea , narrowing of stools, incomplete evacuation, and bowel incontinence ), blood on or in the stool, unexplained anemia, abdominal or pelvic pain, bloating, unexplained weight loss and vomiting. Some patients can be asymptomatic, leading to a delayed diagnosis and a worse prognosis. Around 20% of patients have distant metastases at the time of presentation at the doctor’s. The most common metastatic sites are the regional lymph nodes, liver, lungs, and peritoneum. Diagnosis It is recommended to undergo a screening examination regularly, even if there are no symptoms, after the age of 50. In case some risk factors are present (family history of CRC, genetic mutations, etc) it can be recommended to undergo screening earlier. The best screening method is colonoscopy (to visualize the colon). Detecting a small amount of blood in the stool can be also used as a screening examination - the so-called “occult blood” in the stool. During the diagnostic process, your doctor may perform the following tests: blood tests (complete blood count, tumor markers, and liver enzymes), imaging tests (X-rays, CT scan, MRI scan , PET scan , ultrasound, angiography ), biopsy, diagnostic colonoscopy (done after you show symptoms, not as a routine screening test) or a proctoscopy. Therapy Depending on the stage of CRC, different treatment options or a combination of them can be used. These include surgery, chemotherapy, radiation therapy, targeted drug therapy, and immunotherapy. Prevention There are several steps you can take to lower the chance of getting CRC. The protective factors are physical activity, diet, and certain drugs (like aspirin or other NSAIDs), although the use of these in the context of prevention is not recommended due to their own adverse effects outweighing any potential benefits. [4] It can be beneficial to consume high amounts of fruit and vegetables, resistant starch, fiber, fish, garlic, coffee, and various vitamins and minerals (Vit B6, Vit D, folic acid, magnesium, and calcium). You should also limit the consumption of red and processed meat. Diagnosing CRC at early stages can give a much better prognosis, so screening is an important secondary prevention method. Prognosis The survival rate for people with colorectal cancer depends on the stage of cancer at the time of diagnosis and the individual’s response to treatment. CRC has a high mortality rate, in 2020 it was the second most common cause of cancer-related deaths. The mortality is 25% higher in males than females and 20% higher in African Americans than in other ethnic groups. Recommendations If you experience any symptoms, visit your doctor. Undergo a routine screening examination according to the recommendation of your doctor. Improve your health through a healthy diet and physical activity. Limit consumption of alcohol and smoking.

### Breast Cancer

- URL: https://macromo.com/blog/cancer-risks/breast-cancer
- Published: 2023-09-06
- Category: cancer-risks
- Author: Clara Boettcher Mallmann

Observed genes Polygenic score Influential genes: PTPRJ, BRCA1, BRCA2 Alterations in PTPRJ have been found in several types of cancer. It was found that low expression of PTPRJ is associated with worse prognosis in breast cancer patients. Women with a BRCA1 mutation have a significantly higher lifetime risk of developing breast cancer compared to the general population. Like BRCA1 , mutations in BRCA2 significantly increase the risk of both breast and ovarian cancer. Overview Breast cancer is a disease which causes the cells in the breast to grow uncontrollably. It is the second most common cancer in women (accounting for approximately 15 - 30% of all malignancies).[1;2] Furthermore, it is currently estimated that around 7.8 million women have been diagnosed with it in the past five years.[3] Despite the common belief that it would only affect women, breast cancer can also develop in men. It usually occurs in postmenopausal women, however, genetic predispositions may cause it to arise earlier in life. Certain factors may increase the risk of developing breast cancer, namely: increasing age, notably in postmenopausal women obesity alcohol family history of breast cancer occupational radiation exposure tobacco use high estrogen levels In addition, specific genetic mutations significantly increase the risk of developing the disease. The most prominent being mutations in the following genes BRCA1 BRCA2 PALB-2 Breast cancer is most often painless, but lumps or hardening/thickening of the tissue might be palpable early on. Therefore self-examinations and regular medical check-ups are highly recommended. Breast cancer is often diagnosed thanks to nationwide screening programs, allowing adequate treatment in the early stages, which has positively influenced the overall outcome for breast cancer patients over the past decade. Prevalence & Risk factors Approximately 2.3 million women were diagnosed with breast cancer in 2020.[3] It affects mainly postmenopausal women aged 50 and older. However, about 0.5-1% of all breast cancers are diagnosed in men.[1;2] Some risk factors are impossible to control, such as age, genetic mutations, reproductive history, breast density, family history of breast or ovarian cancer, and previous radiation therapy; nonetheless, there are multiple preventable risk factors that include: hormone therapy pregnancy timing (having first pregnancy after age 30) absence of breastfeeding nulliparity (never having had a full-term pregnancy) alcohol consumption unhealthy lifestyle habits It is essential to mention that having the risk does not mean one will develop the disease, but the chances are slightly increased. Genetics (by Barbora Hamerníková ) The most important risk factor in breast cancer is inheritance, it is estimated that 15–20 % of breast cancer has a familial origin. The risk increases with the number of affected close relatives and the early age of onset. Different risk factors of the disease have also been identified, such as hormonal changes (e.g. high estrogen levels) and lifestyle (drinking alcohol, obesity, lack of physical activity). There is enough evidence proving that breast cancer is inherited as a polygenic disease, where more pathogenic variants with various effects increase the overall risk.[4] BRCA1, on chromosome 17, was the first major gene identified in association with inherited breast cancer. BRCA2 was later located on chromosome 13. Their inheritance pattern is autosomal dominant (AD; only one abnormal allele (copy) of a given gene is enough to cause the disease). However, they act recessively on the cellular level as tumor suppressor genes (AR; both alleles must be affected for loss of function). There are more causative genes that can be divided into the following groups:[5] highly penetrant genes, e.g. BRCA1, BRCA2, PTEN, TP53, CDH1 , and STK11 (they confer up to an 80% lifetime risk of breast cancer) moderate -penetrance genes, e.g. CHEK2, BRIP1, ATM , and PALB2 (each doubling the risk) low -penetrance genes (affecting the risk in a polygenic way, meaning that one variant alone does not cause any change, but many variants with their small effects acting together do). It has been stated that the risk of ovarian cancer is higher than 40% when BRCA1 mutations are present, and up to 20 % for carriers of the BRCA2 gene mutation. Research also suggests the role of BRCA genes in prostate cancer, although the mechanism of tumorigenesis remains unclear.[6] Prevention in high-risk individuals is essential and genetic testing represents a great option to find out whether you’re at risk. Here, in Macromo, polygenic risk scores (PRS) are used to determine the genetic risk. The PRS is an estimate of the probability that an individual carries a given trait based on genetics, without considering environmental factors. Variants across their genome are summed and weighted according to their effect on the disease or trait.[7] But since highly penetrative genes have been identified, they are also being used for identification and screening. Symptoms of breast cancer by Raphseck licensed under CC BY-SA 4.0 Signs & Symptoms Breast cancer can present itself in various ways, so a complete medical examination is essential for a diagnosis. A painless lump or thickening in the breast are among the most common symptoms; however, it's important to mention that there are many other reasons for lumps in the breast, most of which are not cancerous. Women may notice persisting abnormalities (lasting more than one month) in size, shape, or appearance of a breast, redness/pitting or other alteration of the skin area, changes in nipple appearance, or abnormal nipple discharge. Advanced cancers can erode the skin and cause ulceration (open sores). It can also spread to other areas and thus cause other symptoms. The most common site in which the spread of cancer is detectable is the axillary lymph nodes. Diagnosis The possibility of breast cancer is usually investigated after manifesting symptoms or detecting a suspicious lesion in a preventive mammographic examination. Clinical assessment, radiographic imaging (breast ultrasound, mammography), and, if necessary, a biopsy of the tissue are important steps in diagnosing breast cancer. In cases of confirmed breast cancer, further imagining of both breasts, the skeleton, regional lymph nodes, and possibly other body parts is indicated to assess the possible spread of the mass. Therapy The treatment depends on the results obtained by a biopsy (histopathological classification: how the cells look and what kind of receptors they express that could be targeted during treatment) and staging of the cancer. It can involve surgical management (removal of the mass and/or breast) and systemic therapy such as chemotherapy, hormone therapy, and/or targeted therapy. Luckily, breast cancer treatment can be very effective, achieving 90% or higher survivability, especially when the disease is diagnosed early.[2] Prevention Prevention of breast cancer can be done by altering the modifiable risk factors mentioned in this article, such as limiting alcohol consumption, maintaining a healthy weight, being physically active, breastfeeding, and limiting postmenopausal hormone therapy. Self-examination or examination by a partner has limited evidence of improving the diagnosis and outcome of breast cancer but is still recommended by many sources. You can find a guide on how to examine yourself here: https://www.breastcancer.org/screening-testing/breast-self-exam-bse Nonetheless, the most crucial step is to take advantage of your country’s screening programs and strictly follow them. Prognosis The prognosis of breast cancer will depend on its diagnosis stage. Diagnosis in the early-stage results in significantly greater survival chances, and over the last decades, mortality has steadily decreased thanks to screening programs and early interventions. The more cancer has spread, the harder it is to treat and the worse the outcome is. Recommendations Go to routine screenings Self-examination of breast and axillary area Regular physical activity Breastfeeding your children Consulting with your doctor about the possibility of higher risk in your family The first step in preventing breast cancer is to maintain a healthy weight, stick to a healthy diet, and exercise regularly. It’s important not to smoke or use any other tobacco products and limit your alcohol consumption. Don’t forget to attend routine screenings and do regular self-examinations of your breasts.

### Basal cell carcinoma

- URL: https://macromo.com/blog/cancer-risks/basal-cell-carcinoma
- Published: 2023-09-06
- Category: cancer-risks
- Author: Yevhenia Rakhmankina

Summary Basal cell carcinoma is a malignant tumor that arises in the lower portion of the skin. It grows very slowly and almost never metastasizes, which defines its great prognosis. It usually arises in areas often exposed to the sun and appears as a shiny skin-colored, red or darker lesion. Observed genes Polygenic score Influential genes: TP53,MC1R, SLC45A2 In BCC, TP53 mutations are one of the most common genetic changes and can lead to the development and progression of the disease. S ome of the MC1R variants may increase the risk of BCC. The risk is thought to be related to the gene's role in skin pigmentation and response to UV radiation. The SLC45A2 gene is involved in pigmentation, and its variants have been associated with skin color and susceptibility to skin cancer. Overview Basal cell carcinoma, or BCC, is the most common cancer worldwide. It usually occurs on sun-exposed areas of your skin and can have various clinical presentations. The most important risk factor is sunlight exposure, others include age, personal and family history of BCC, immunosuppression, radiation therapy, arsenic exposure, etc. The definitive diagnosis can be made only after a biopsy. There are many treatment options available including surgery, topical medications, cryotherapy, laser therapy, etc. You can try preventing basal cell carcinoma development by avoiding the sun at peak hours and using sunscreen. BCC has an excellent prognosis when diagnosed and treated early. Prevalence and Risk factors Basal cell carcinoma is the most common cancer worldwide. In Europe, the estimated incidence is about 50 to 80 new patients per 100 000 persons per year.[1] Globally in 2019, there were 4 million cases. However, the incidence varies significantly across different countries and ages. The main risk factor of BCC is sunlight exposure - particularly the exposure to harmful UV rays, including tanning beds. The damage you get from UV rays depends on several factors, like the overall lifetime exposure, intensity, and skin type. You are much more exposed to the sun if you live in a sunny or high-altitude location. People with light skin that is easily freckled or sunburnt have a much higher rate of BCC development. However, 20% of BCC arise in areas that aren't sun-exposed, so other risk factors also play a role.[2] These include: Personal or family history of skin cancer. If you had BCC once or more, you would likely develop it again. Increasing age Radiation therapy (for treatment of acne and other skin conditions) Arsenic exposure. Arsenic is a toxic metal that increases the risk of several cancers, including BCC. It is widely found in the environment. However, most people have minimal exposure to it. Immunosuppression. Immunosuppressive drugs, like antirejection medicine after transplant or meds to treat some autoimmune diseases, lower your body's ability to fight off cancer and significantly increase the risk of developing BCC. Specific rare genetic syndromes, like xeroderma pigmentosum and nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome), put affected individuals at high risk for BCC development. Genetics Basal Cell Carcinoma (BCC) usually develops sporadically but it can also be a result of Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome), which is an autosomal dominant hereditary disorder (only one mutated allele can cause the disease). The key cause is considered to be the exposure to ultraviolet (UV) radiation, resulting in point mutations (usually represented by the C>T and CC>TT base transitions). BCC is known for its highest mutation rate among cancers, with over 65 mutations/Mbp (megabase pair). The genetic basis of sporadic BCC in the general population is still not fully uncovered. Some tumor suppressor genes and proto-oncogenes (mutation of this gene leads to uncontrolled cell division) have been involved in BCC development, PTCH 1 and SMO genes, the TP 53 tumor suppressor gene, and also the members of the RAS proto-oncogene family.[3] Often, those changes lead to loss-of-function mutations in the PTCH1 gene or activating mutations in the SMO gene . Whole-exome sequencing (WES) analyses have also discovered different affected genes and pathways, including MYCN, PPP6C, PTPN14, STK19, and LATS1 genes.[4-6] Here in Macromo, polygenic risk scores are used to determine one's genetic risk. The polygenic risk score (PRS) is an estimate of the probability that an individual carries a given trait based on genetics, without considering environmental factors. Variants across their genome are summed and weighted according to their effect on the disease or trait.[7] Signs and symptoms Basal cell carcinoma is usually found on sun-exposed areas, especially the face, ears, neck, scalp, chest, shoulders, and back. However, remember that it can also occur anywhere in the body, for example, on genitalia. Five warning signs can suggest it is BCC: An open sore that does not heal. The ulcer can bleed, ooze or crust. The sore might persist for weeks or appear to recover and then come back. A reddish or irritated area that may crust, itch, hurt or cause no discomfort. A shiny bump or nodule that is pearly or clear, pink, red or white, or even tan, brown, or black. A small pink growth with a slightly raised, rolled edge and a crusted center. It may develop tiny vessels close to the surface over time. A scar-like area that is flat white, yellow, or waxy in color with poorly defined borders. It can be a warning sign of an invasive BCC.[8] However, basal cell carcinoma can look different than the above-described presentations. Sometimes it can resemble some non-cancerous skin conditions like psoriasis or eczema. In people of color, the lesion can often be mistaken for moles since half of the lesions are brown. Furthermore, basal cell carcinoma has a really low metastasizing potential, meaning it rarely spreads throughout the body. If you notice a suspicious lesion, you should consult your general practitioner or dermatologist. Diagnosis An experienced doctor can make a diagnosis based on the clinical manifestation alone. The dermatologist can use a dermatoscope, a special visual aid device for skin conditions. The definitive diagnosis is made upon a biopsy of the affected skin area. The doctor can take a small piece of tissue that will be examined under a microscope. In most cases a microscopic examination can be made after a full excision of the lesion. Therapy Basal cell carcinoma is easily cured at its early stages. It's essential to treat it, so it doesn't lead to severe disfiguring complications. There are several treatment options available: Surgical removal is the preferred treatment for BCC, especially for lesions found in the early stages. There are various ways by which your dermatologist can perform the surgical removal, like excision, curettage (scraping the lesion off), or electrodesiccation (usage of electric current to remove the tumor). Cryotherapy Photodynamic (light) therapy Laser therapy Topical medication Radiation therapy Basal cell carcinoma might need additional treatment if cancer has spread throughout the body.[9] Prevention Although BCC is the most common cancer worldwide, most cases are preventable. You can take several precautions to minimize the risk of skin cancer development.[10] Avoid sun exposure from 10 am to 4 pm. Avoid tanning beds. Use sunscreen with SPF 30 or higher daily, even on cloudy days. Use special protective clothing. Taking oral supplements of niacinamide (vitamin B3) can reduce the rate of development of skin cancer by 23% in individuals at high risk of BCC.[11] Check your skin regularly and note any changes and warning signs. Visit your dermatologist annually. Prognosis BCC's prognosis depends on its potential risk of recurrence, which is related to the location, and clinical and histopathological (microscopic) findings. Fortunately, most of the cases have an excellent prognosis. If left untreated for a long time, basal cell carcinoma can grow and become disfiguring and dangerous. Rarely can it spread deep into the tissue and bone or even to distant organs. If you once had BCC, it puts you at a higher risk of recurrence of this cancer and the development of another skin cancer, for example, melanoma. You should attend regular check ups to identify any new lesion as early as possible. Recommendations Avoid sun exposure from 10 am to 4 pm. Avoid tanning beds. Use sunscreen every day with an SPF of 30 or higher. Take oral supplements of niacinamide (vitamin B3). Check your skin regularly. Visit your dermatologist annually.

### Nonsyndromic Hearing Loss and Deafness

- URL: https://macromo.com/blog/family-planning/nonsyndromic-hearing-loss-and-deafness
- Published: 2023-08-23
- Category: family-planning
- Author: Yevhenia Rakhmankina

Overview Nonsyndromic hearing loss (NSHL) is a partial or total loss of hearing that is not associated with other signs and symptoms. The most important risk factor is genetic predisposition. There are various types of inheritance and depending on the genes involved there is a different presentation of NSHL. It can be sensorineural (sound can't be perceived or the signal transmitted to the brain), conductive (sound waves don't reach the inner ear), or mixed, stable or progressive, prelingual or postlingual, mild or severe. The screening examinations in children (during routine checkups with pediatricians) are important to prevent language, communication, and cognitive complications. The treatment usually involves hearing aids to improve the hearing loss. Prevalence & Risk factors Hearing loss is one of the most common birth defects with a prevalence of 1-3 in every 1000 newborns and 70% of those cases are nonsyndromic. It is estimated to be 0,14% at birth and getting higher with age. [1] Genetic predisposition is the most important risk factor. Some environmental causes can contribute to the development of hearing loss, these include certain medications, specific infections before or after birth, and exposure to loud noise over an extended period. Age is also a major risk factor. Presbycusis (age-related hearing loss) has both genetic and environmental factors influencing its development. Genetics There are various genes responsible for the development of NSHL. Around 75-80% of cases are inherited in an autosomal recessive pattern, 20-15% in autosomal dominant, and the rest of the cases are either X-linked or mitochondrial.[1] Signs & Symptoms Most of the cases are described as sensorineural, which means they are associated with damage to structures in the inner ear. Less commonly, it is conductive, meaning it results from changes in the middle ear. Rarely nonsyndromic hearing loss can be mixed. Hearing loss can be stable, or it may be progressive, becoming more severe as a person gets older. It can be prelingual (before the child starts to speak) or postlingual. Particular types of nonsyndromic hearing loss show distinctive patterns of hearing loss, it may be more pronounced at high, middle, or low tones. For example, autosomal recessive NSHL is generally prelingual, non-progressive (stable), and severe-to-profound and autosomal dominant NSHL is primarily characterized as post-lingual and progressive. Hearing loss that is undetected and untreated can result in speech, language, and cognitive delays. Diagnosis Screening for hearing loss should be a part of routine health assessment in children. Pure tone audiometry, tympanometry, or otoacoustic emission (OAE) testing may be performed to diagnose any hearing loss Often a simple look into the ear canal can lead to a diagnosis and subsequent treatment.. Therapy Management of NSHL should be multidisciplinary involving a pediatrician, general practitioner, ORL/ENT specialist, speech therapist, and hearing aid specialist. The best option for improving hearing loss is hearing aids. Some forms of conductive hearing loss can be fixed surgically. Prevention Early identification and effective treatment of hearing loss can prevent language, communication, and cognitive complications. Prognosis Generally the prognosis is really good. Hearing aids can improve your hearing and let you have a normal life. Recommendations If your child experiences hearing loss, speech, language, and cognitive delays, visit your pediatrician Undergo screening examinations according to your doctor’s recommendations Pay attention to how loud you have to talk to your child or (grand)parents

### Macromo had a successful year 2022!

- URL: https://macromo.com/blog/news/macromo-had-a-successful-year-2022
- Published: 2023-01-19
- Category: news
- Author: Viktoria Konigova

The founding team has spent the first quarter in the US gathering feedback on the first version of our product and connecting with investors. In spring, we developed the first version of Macromo Engine , which provides our users with personalized health recommendations based on the latest scientific research. It combines DNA-derived data with lifestyle information and other relevant health data. In order to achieve the highest possible quality of our DNA tests, we started working with Eurofins , the world's leading provider of next-generation genomic sequencing services. In the summer, we launched Macromo Insider , your next favorite source for everything genomics, disease prevention and healthy lifestyle. At the end of August, Macromo was officially launched with a new online store and soon after that we sequenced our first complete genome! We also released our mobile app that allows our customers to access their test results and provides them with personalized health recommendations. In October, Eva and Petr returned to San Francisco to continue their spring mission and to expand our biotech contacts. Meanwhile in the Czech Republic, we partnered with the Hořovice Hospital and Pilulka.cz . In November, we announced a new investment from Spadia labs and the start of a beautiful partnership. What's next?! Soon we're launching our new website and that comes with a surprise: new products! We are also preparing the integration of our mobile app with Apple Health . This new groundbreaking feature will allow users to monitor their activities, sleep and other factors in relation to their genetic predispositions. We will also continue to expand the range of input data options by including blood test results . In addition to long-term genetic results, this will allow for clear tracking of current indicators of overall health.

### Read expert opinions on Macromo

- URL: https://macromo.com/blog/news/read-expert-opinions-on-macromo
- Published: 2023-01-02
- Category: news
- Author: Petr Stepanek

Are you curious about your genetic predispositions and how they may impact your health? At-home genetic testing kits have exploded in popularity over the past few years, giving individuals the opportunity to learn more about their DNA from the comfort of their own home. But what do experts have to say about this trend? In this article, we'll hear from a variety of healthcare professionals about the potential benefits and limitations of at-home genetic testing for preventive healthcare. From geneticists to primary care physicians, these experts offer insight and perspective on the role of genetic testing in proactive health management. Ing. Lenka Piherová, Ph.D. Clinical Geneticist Preventive health care increases the likelihood of preventing diseases that could cost us our lives in time. It is important to remember that we all have part of our health in our own hands. Thanks to great technological and scientific advances, it is now possible to track predispositions to several diseases. Ing. Antonín Králík, Dr. rer. Nat. Clinical Geneticist I have always enjoyed observing graphs and charts that show my body metrics, activity, biochemical analyses, diagnostic results, and overall health. Macromo gathers all of this in one app and more - it gives you highly personalized recommendations on how to live a better, healthier life. Mgr. Václav Janoušek, Ph.D. Bioinformatician There is a rising trend of personalization in modern healthcare. DNA test results can be connected to other health data sources, such as electronic health records, wearable devices, and apps, to provide a more comprehensive view of an individual's health. This approach can be particularly useful for prevention of many diseases, as it helps to identify potential health risks and allows individuals to take proactive steps to maintain their health. Macromo supports exactly this approach with its mobile app. Ing. Jan Kelča MDR Specialist Data safety and the General Data Protection Regulation (GDPR) are important considerations when it comes to at-home genetic testing. Macromo has implemented a number of measures to ensure the safety and security of its customers' genetic data, including robust and secure data storage practices. In addition, the company has been transparent about its data handling practices. By taking a responsible approach to data handling, companies like Macromo can help to build trust with their customers and ensure that individuals feel comfortable and confident about sharing their genetic information through these services.

### Macromo acquires a new key partner for further growth

- URL: https://macromo.com/blog/news/macromo-acquires-a-new-key-partner-for-further-growth
- Published: 2022-11-22
- Category: news
- Author: Katerina Markova

After just three months of operation on the Czech market, we have strengthened our position thanks to a newly acquired investment from private investor Martin Radina. He is in charge of Spadia, one of the largest providers of laboratory medicine in the Czech Republic. He has now acquired a 6% stake in the company. We plan to use the investment to further penetrate the market, support the growth of our customer base, as well as to further develop and expand into new markets, not only in Europe. With this strategic combination, we gained a strong background that will enable us as a startup company to better navigate the laboratory diagnostics market. At the same time, we will benefit from the experience that an established partner has to offer, both in terms of management and in launching new products and technologies to the market. Latest developments in the preventive care market Direct sales of our genetic tests on the Czech market have been growing by hundreds of percent in recent months. We plan to focus our sales strategy mainly on the B2B customer segment. We have already established cooperation with leading pharmacy chains and hospitals, who will distribute our tests. We are also in discussions with a number of companies that want to offer DNA testing in combination with the Macromo health recommendations engine as one of their employee benefits. The increase in the incidence of chronic diseases and the ageing of the population increases the demand for preventive diagnostics and especially genetic testing. But also the interest of young and active people in more accurate analysis of their health using technologies such as wearable fitness trackers is also helping to accelerate the already inevitable positive transformation of our healthcare system from reactive to preventive. "DNA tests are useful in many areas and can be expected to shift medical care to adopting a personalized approach over time, and demand will grow, for example, among healthy adults seeking early identification or prevention of hereditary diseases," adds Martin Radina , explaining his motivation to support Macromo in its future growth.

### foodora: Prevence, která dává zaměstnancům konkrétní odpovědi

- URL: https://macromo.com/cs/blog/case-studies/foodora-prevence-ktera-dava-zamestnancum-konkretni-odpovedi
- Published: 2026-09-09
- Category: case-studies
- Language: Czech
- Author: Klara Sarkanyova

Ve foodoře, v jedné z předních doručovacích platforem v Česku, se klade důraz na benefity, které zaměstnancům přinášejí skutečnou a praktickou hodnotu. V oblasti zdraví a prevence proto hledali řešení, které nebude stát pouze na obecných doporučeních, ale umožní každému zaměstnanci lépe porozumět vlastnímu zdraví na základě konkrétních dat. "Ve foodoře věříme, že nejlepší prevence je ta, která je jednoduchá, osobní a podložená daty. Macromo nám ukázalo úplně nový rozměr péče o zdraví, kde se z abstraktních doporučení stávají jasné kroky pro každý den.“ Adam Kolesa, generální ředitel foodora Česko Od krevního testu ke konkrétním krokům Macromo propojuje komplexní krevní testování s digitální aplikací, ve které zaměstnanec najde své výsledky, jejich srozumitelnou interpretaci a personalizovaná doporučení zaměřená například na životní styl, stravu nebo pohyb. Jednotlivé hodnoty tak může vidět v širším kontextu a lépe pochopit, které oblasti jeho zdraví jsou v pořádku a kterým by naopak měl věnovat větší pozornost. Přínos pro foodoru a její zaměstnance Pro foodoru představuje Macromo možnost rozšířit zaměstnanecké benefity o personalizovanou a datově podloženou prevenci. Zaměstnanci získávají nástroj, který jim umožňuje převzít aktivnější roli v péči o vlastní zdraví a pracovat se svými výsledky i po samotném testování. Pro zaměstnavatele jde zároveň o moderní wellbeing benefit, který propojuje prevenci, technologie a personalizaci a může zaměstnance motivovat k dlouhodobější péči o zdraví a přispět k nižší absenci díky včasnému zachycení potenciálních problémů. Od pilotního vyzkoušení k benefitu pro celý tým Než se ve foodoře rozhodli nabídnout Macromo všem zaměstnancům, vyzkoušeli si celý proces nejprve členové vedení společnosti – od krevního testu až po výsledky, jejich interpretaci a doporučení v aplikaci. „Jako vedení jsme chtěli tento koncept nejdříve sami vyzkoušet na vlastní kůži. Výsledky i přístup nás nadchly natolik, že přesně tento typ měřitelné prevence chceme nabídnout všem našim zaměstnancům.“ Adam Kolesa, generální ředitel foodora Česko Pozitivní zkušenost vedení se tak stala prvním krokem k rozšíření Macromo mezi zaměstnance foodory. Cílem spolupráce je zpřístupnit prevenci jednoduše a srozumitelně a dát zaměstnancům informace, které nekončí samotným výsledkem testu, ale mohou je dlouhodobě využívat při péči o své zdraví. Protože skutečná hodnota zdravotních dat nevzniká jen jejich změřením, ale především tím, když víme, co s nimi dál. Prevence, která pokračuje i po odběru Macromo firmám nepřináší pouze další zdravotní benefit. Cílem je vytvořit dlouhodobý preventivní program, který zaměstnancům pomáhá lépe porozumět vlastnímu zdraví, motivuje je ke konkrétním změnám a při opakovaném měření jim umožňuje sledovat skutečný posun v čase.

### Hladina kortizolu během dne

- URL: https://macromo.com/cs/blog/blood-metabolic-health/hladina-kortizolu-behem-dne
- Published: 2024-02-21
- Category: blood-metabolic-health
- Language: Czech
- Author: Barbora Hamernikova

Shrnutí Kortizol, často označovaný jako "stresový hormon", hraje klíčovou roli v reakci organismu na stres a účastní se regulace různých fyziologických procesů. Je produkován nadledvinami, které se nacházejí v horní části ledvin. Hladina kortizolu během dne se řídí přirozeným biorytmem, známým jako cirkadiánní rytmus, který ovlivňuje řadu tělesných funkcí a naší celkovou pohodu. Přehled Kortizol se v lidském těle podílí na různých funkcích. Jeho sekrece je spojena s osou hypotalamus-hypofýza-nadledviny (HPA), což je složitá síť zahrnující hypotalamus, hypofýzu a nadledviny. Nadledviny uvolňují kortizol v reakci na signály právě z osy HPA, která se aktivuje během stresových situací a je také součástí přirozeného denního rytmu organismu. Kortizol může ovlivňovat téměř všechny orgány a tkáně v těle. Podílí se na reakci na stres, snižování zánětu, regulaci metabolismu, hladiny cukru v krvi či na kontrole krevního tlaku. Koncentraci kortizolu v krvi ovlivňují různé faktory, včetně stresorů, fyzické aktivity, spánkového režimu a některých onemocnění nebo léků. [1-3] Hladiny kortizolu během dne kolísají. Nejvyšší je obvykle ráno, hned po probuzení. Tento nárůst kortizolu pomáhá nastartovat den tím, že dodává organismu energii a bdělost. V průběhu dne má hladina kortizolu tendenci postupně klesat. V noci by měla být hladina nejnižší, což usnadňuje odpočinek a spánek. Tento pokles podporuje snahu těla o zklidnění a regeneraci. Pokud je hladina kortizolu příliš vysoká nebo příliš nízká, může to znamenat problém s nadledvinami, hypofýzou nebo nádorem vylučujícím kortizol. Lze jej použít k diagnostice a sledování onemocnění, jako je například soubor onemocnění způsobujících Cushingův syndrom (příliš mnoho kortizolu) či Addisonova choroba (nadledviny netvoří dostatek kortizolu) nebo sekundární nedostatečnost v důsledku nefunkční hypofýzy. Co vědět o hladině kortizolu? Kortizolový test měří hladinu kortizolu v krvi, moči nebo slinách a zjišťuje, zda je hladina kortizolu v normě. Analýza hladiny kortizolu v různých denních dobách poskytuje informace o vaší reakci na stres a zdraví nadledvin a pomáhá odhalit případnou nerovnováhu. [4-6] Ranní kortizol Nízká hladina Ranní hladina kortizolu, která je nižší než optimum může poukazovat na nedostatečnost nadledvin, únavu nebo narušený spánkový režim. Vysoká hladina Zvýšené ranní hladiny kortizolu by mohly naznačovat nadměrný stres nebo nadměrnou aktivaci nadledvin. To může mít za následek příznaky, jako je neklid, úzkost a nespavost. Odpolední kortizol Stabilní hladina Stabilní pokles kortizolu během odpoledne obecně svědčí o vyvážené reakci na stres a zdravé funkci nadledvin. Neobvyklá hladina Náhlé zvýšení nebo snížení odpolední hladiny kortizolu může signalizovat nepravidelný stresový vzorec související s chronickým stresem, špatným spánkem nebo hormonální nerovnováhou. Noční kortizol Stabilní hladina Přiměřeně snížená hladina kortizolu v noci podporuje kvalitní spánek a umožňuje tělu odpočívat a načerpat nové síly. Neobvyklá hladina Extrémně nízké nebo naopak vysoké hladiny nočního kortizolu mohou signalizovat narušení cirkadiánního rytmu, což přispívá k poruchám spánku a ovlivňuje celkové zdraví. Zvýšené hladiny během noci způsobují potíže s usínáním, udržením spánku a dosažením hlubších fází spánku. Jaké jsou možné příčiny? Vysoká hladina kortizolu může dlouhodobým působením způsobovat Cushingův syndrom, soubor příznaků, za kterým stojí řada vnějších faktorů i onemocnění. Nejčastější příčinou je dlouhodobé užívání vysokých dávek steroidních léků. Případně může být příčinou nádor v hypofýze způsobující vysokou produkci ACTH - hormonu, který signalizuje nadledvinám, aby uvolňovaly kortizol. Další možností je nádor nadledvin, který přímo způsobuje nadměrnou produkci kortizolu. Vždy je důležité poradit se s lékařem, který vám poskytne správné vyhodnocení testu a radu ohledně dalšího postupu. Cushingův syndrom se vyznačuje charakteristickým vzhledem, který lze identifikovat štíhlými pažemi a nohami, zakulaceným obličejem, zvýšeným množstvím tuku v oblasti břicha a krku, a nápadnými širokými fialovými striemi. Kromě toho může vysoká hladina kortizolu přispívat k dalším zdravotním problémům, včetně vysokého krevního tlaku, zvýšené hladiny cukru v krvi, svalové slabosti, osteoporózy, akné a nepravidelné menstruaci. Nízká hladina kortizolu může také naznačovat problémy s nadledvinami, jako je například Addisonova choroba (primární nedostatečnost nadledvin). Případně může vzniknout tvz. druhotně, v důsledku špatné funkce hypofýzy, která vede k nedostatečné produkci ACTH (sekundární adrenální insuficience), a tím k nedostatečné stimulaci funkce nadledvin. Hlavním důvodem nízké hladiny kortizolu je však často náhlé vysazení steroidních léků po jejich dlouhodobém užívání. Nízká hladina kortizolu může vést k únavě, ztrátě chuti k jídlu, úbytku hmotnosti, svalové slabosti a bolestem břicha. Pokud se u vás vyskytne některý z těchto příznaků, obraťte se na svého lékaře a požádejte ho o další vyšetření. Denní kolísání hladiny kortizolu [13-16] Fyziologický průběh Ranní hladina kortizolu obvykle dosahuje svého maxima krátce po probuzení, obvykle během 30 až 45 minut. Hladina kortizolu během dne postupně klesá a nejnižšího bodu dosahuje pozdě večer nebo v noci. Tento pokles připravuje tělo na odpočinek a spánek. Obr. 1: Křivka optimální odezvy kortizolu. Zploštělá křivka Zploštělá denní křivka kortizolu se vyznačuje menšími výkyvy hladin kortizolu během dne. To může znamenat nižší ranní hladinu kortizolu, menší pokles během dne nebo obojí. Může být způsobena několika faktory, například chronickým stresem, nepravidelným spánkovým režimem, některými zdravotními problémy nebo léky. Obr. 2: Zploštělá křivka odezvy kortizolu. Převrácená křivka Převrácená křivka může znamenat poruchu cirkadiánního rytmu, ta může být způsobena dlouhodobým stresem, prací na směny, poruchami spánku nebo jinými faktory. Může také upozorňovat na skryté zdravotní problémy, které ovlivňují regulaci kortizolu. Obr. 3: Převrácená křivka odezvy kortizolu. Chronická stresová křivka (jedna z více variant křivek) Křivky kortizolu u chronických stresových reakcí mohou vykazovat např. poměrně vysoké ranní hladiny, po nichž následují nepřiměřeně nízké odpolední a noční hladiny. Tento vzorec odráží změněnou reakci organismu na stres, což by mohlo souviset s poruchami cirkadiánního rytmu nebo zdravotními problémy, které ovlivňují regulaci kortizolu. Obr. 4: Reakce slinného kortizolu na chronický stres. Genetika Určité genetické rozdíly ovlivňují způsob, jakým naše tělo produkuje, využívá a metabolizuje kortizol. Například odchylky v genu kódujícím glukokortikoidní receptor mohou změnit citlivost tohoto receptoru na kortizol. Tyto genetické odchylky ovlivňují způsob, jakým jedinci reagují na stres, a jejich citlivost vůči stavům spojeným s nerovnováhou kortizolu. [7,8] Doporučení Udržování vyvážené hladiny kortizolu je důležitým aspektem dobrého zdraví. Následující postupy jsou vědecky doložené a jsou také známé pro svou jednoduchost a účinnost: Základem zdravého životního stylu a celkové pohody je pravidelná fyzická aktivita, vyvážená strava, dostatek spánku a hydratace. Pokud se u vás objeví příznaky vysoké nebo nízké hladiny kortizolu, poraďte se se svým lékařem. Zvládání stresu je zásadní. Techniky jako meditace či dechová cvičení mohou pomoci zvládat stresové situace. Nadměrné množství kofeinu může narušit váš spánkový cyklus a zvýšit hladinu kortizolu. Pokud během dne konzumujete více kofeinu, než je doporučeno, mohlo by být jeho omezení velmi prospěšné. Pravidelný spánkový režim je v souladu s cirkadiánním rytmem vašeho těla a pomáhá regulovat produkci kortizolu. Byl pozorován zajímavý účinek aromaterapie. V některých studiích mělo použití vůní levandule a rozmarýnu za následek snížení hladiny kortizolu v séru a zmírnění úzkosti. [9,10] Bylo prokázáno, že smích redukuje stres a uvolňování kortizolu. A to ať už se jedná o sledování zábavného filmu nebo zábavu a čas strávený s rodinou a přáteli. [11,12] Informace a testy uvedené na našich webových stránkách slouží pouze pro vzdělávací účely a nenahrazují odborné lékařské poradenství. Před rozhodnutím týkajícím se zdravotního stavu se vždy poraďte se svým lékařem. Naše testy nediagnostikují ani neléčí nemoci. Individuální výsledky se mohou lišit a měly by být konzultovány s poskytovatelem zdravotní péče.

### Hereditární amyloidóza

- URL: https://macromo.com/cs/blog/diseases-risks/hereditarni-amyloidoza
- Published: 2024-01-24
- Category: diseases-risks
- Language: Czech
- Author: Anna Fiserova

Přehled Hereditární amyloidóza je zdravotní stav, při kterém se v důsledku dědičné genové mutace vytváří abnormální bílkovina. Tento abnormální protein, nazývaný amyloid , se ukládá v orgánech a může vést k narušení tkáně a její funkce. K ukládání dochází především v srdci, nervovém systému a ledvinách. Příznaky se značně liší v závislosti na cílové tkáni a genové mutaci a obvykle se objevují až v dospělosti Existují dva hlavní typy dědičné amyloidózy - ATTR a non-ATTR, s více než 200 různými genovými variantami. U ATTR, nazývané také transthyretinová amyloidóza, se dědí mutace pro protein transthyretin. Transthyretin je transportní protein pro hormony štítné žlázy, který se produkuje v játrech. Mutace způsobuje chybné skládání tohoto proteinu, což vede k tvorbě abnormálního a nerozpustného amyloidu a jeho následnému ukládání v tkáních. Bez včasného odhalení a léčby je ATTR progresivní, multisystémové, život ohrožující onemocnění. Výskyt a rizikové faktory Transthyretinová amyloidóza (ATTR) je v současné době považována za vzácné onemocnění s celosvětovou prevalencí 5 000 - 10 000 osob. [1] Předpokládá se, že skutečný počet může být mnohem vyšší, protože mnoho případů není diagnostikováno. Nejvyšší počet případů byl zaznamenán v tzv. endemických zemích - v Portugalsku, Švédsku a Japonsku. Onemocnění vzniká bez ohledu na rizikové a ochranné faktory, protože je způsobeno genovou mutací, se kterou se člověk již narodí. Genetika Nejčastější forma dědičné amyloidózy je způsobena mutací v genu TTR , který kóduje protein transthyretin. Zřídka se patogenní změny vyskytují i v dalších genech, jako je fibrinogen A, apolipoprotein A1 a A2 nebo cystatin C. Všechny typy dědičné amyloidózy mají autozomálně dominantní dědičnost (onemocnění může způsobit jedna mutovaná alela genu). Bylo identifikováno více než 150 patogenních variant genu TTR . Mutace v genu TTR vedou k destabilizaci a nesprávnému skládání proteinu transthyretinu, čímž vznikají nerozpustné amyloidní fibrily. [2] Různé mutace genu TTR jsou spojeny s různými orgány v těle. Nicméně klíčovým faktorem při vzniku amyloidu je stabilita proteinu TTR . [3] Za nejčastější variantu u bělochů se považuje Val30Met (referenční aminokyselina valin je na pozici aminokyseliny 30 nahrazena methioninem) [4] , v jiné studii bylo zjištěno, že nejčastějším genotypem v Číně je Gly83Arg, následovaný Val30Met a Val30Ala. [5] Některé mutace mohou vyvolávat kardiomyopatii (např. Val122Ile), zatímco jiné jsou spojeny s neuropatií (např. Val30Met). Val122Ile se často vyskytuje u Afroameričanů s kardiálními příznaky v pozdějším věku. [6] Vzhledem k variabilní penetranci se u nositelů nemusí příznaky projevit až do vyššího věku, ale jejich děti mohou být postiženy. Zajímavé je, že největší shluk osob s onemocněním způsobeným mutací Val30Met se nachází v severním Portugalsku, kde se výskyt odhaduje na 1 z 538 osob. [7] Znát své genetické riziko je důležité a genetické testování je vhodným řešením. Je možné identifikovat genetické varianty a předpovědět pravděpodobnost vzniku onemocnění u sebe, nebo si toho být vědom při plánování rodiny. Známky a projevy onemocnění Příznaky amyloidózy se u různých genetických variant liší a závisí na postižené tkáni. Každý pacient může mít jedinečné a neočekávané příznaky, což činí z amyloidózy jedno z nejobtížněji diagnostikovatelných onemocnění. Klinické projevy onemocnění ovlivňuje také geografická poloha a další často nejasné genetické a environmentální faktory. Příznaky různého stupně závažnosti se mohou objevit již v dětství, ale většina pacientů nemá žádné příznaky až do dospělosti. Nejčastěji je postiženo srdce a nervová tkáň, což vede k onemocněním nazývaným kardiomyopatie a neuropatie . Postižena může být také trávicí soustava, ledviny, oči a karpální tunel. Srdce Amyloid se usazuje v srdeční tkáni, způsobuje její tuhnutí a stav nazývaný kardiomyopatie, který vede k selhání srdce a/nebo ke změně srdečního rytmu, tzv. arytmii. Nejčastěji popisovanými projevy jsou nevolnost, dušnost, bolest na hrudi, poruchy spánku nebo otoky nohou. Tito lidé jsou také ohroženi vyšším rizikem srdečního infarktu. Nervový systém Abnormální usazeniny bílkovin mohou vést k poškození nervů, tzv. neuropatii. Postižena může být jakákoliv nervová struktura - periferní, centrální i autonomní. Pacienti proto mohou pociťovat pálení, brnění a bolest v kterékoli části těla. Autonomní nervový systém ovládá vnitřní orgány, a proto může amyloidóza vést například k poruchám funkce cév a problémům s krevním tlakem. Jazyk Makroglosie, což je označení pro prodloužený jazyk. Ledviny Dysfunkce ledvin způsobená ukládáním amyloidu může vést k hromadění vody v tkáních a tělesných dutinách. To se může projevit otoky dolních končetin, nadmutím břicha a dýchacími problémy způsobenými otokem plic. Neschopnost filtrovat krev může vést k selhání ledvin, které vyžaduje náhradu funkce ledvin (např. hemodialýzu). Diagnostika Vzhledem k široké škále příznaků a jejich podobnosti s jinými poruchami je diagnostika obvykle velmi problematická. Kroky vedoucí k diagnóze amyloidózy zahrnují vyšetření krve a moči. Tato vyšetření jsou nezbytná i při posuzování, které orgány jsou postiženy a v jakém rozsahu. K potvrzení diagnózy a upřesnění typu amyloidózy se provádí biopsie - odebere se malý kousek tkáně, který se obarví a pozoruje pod mikroskopem (amyloidóza se identifikuje obarvením tkáně barvivem Kongo Red, které pak v polarizovaném světle vytvoří zelený dvojlom). Vzhledem k tomu, že léčebný plán se u jednotlivých typů amyloidózy liší, je přesná diagnóza nezbytná. K získání podrobných informací je třeba provést analýzu proteinů a sekvenování DNA. Včasná a přesná diagnóza je rozhodující pro prognózu onemocnění. Terapie Léčba dědičné amyloidózy se zaměřuje především na zvládání příznaků onemocnění a zpomalení tvorby amyloidu. Bohužel neexistuje léčba, která by poškození a progresi zvrátila. Podpůrná léčba může pomoci při bolestech, zažívacích potížích (průjem, zácpa, zvracení), nevolnosti nebo při nepravidelném srdečním rytmu. Léčba selhání ledvin a srdce může výrazně zlepšit kvalitu života pacientů. Někdy může být provedena transplantace ledviny/srdce nebo operace karpálního tunelu. Hlavní léčebnou metodou zůstává transplantace jater. Jejím cílem je odstranit z těla hlavní zdroj amyloidu. Výsledek se liší v závislosti na variantě genu a amyloid se i přesto může hromadit. Prevence Vzhledem k tomu, že transthyretinová amyloidóza je dědičné onemocnění, bohužel neexistuje způsob, jak jeho vzniku zabránit. Léčebnými postupy lze pouze chránit cílové orgány a snižovat riziko jejich selhání. V případě postižení ledvin může být nutné dodržovat dietu s nízkým obsahem bílkovin a sodíku. Doporučuje se také změna životního stylu a dodržování výživné a vyvážené diety v kombinaci s pravidelným cvičením. Pro pacienty může být také prospěšné podstoupit genetické poradenství, které jim a jejich rodinám pomůže pochopit onemocnění, mechanismus, který za ním stojí, a možný dopad na budoucí potomky. Prognóza Prognóza onemocnění závisí především na genetické variantě dědičné amyloidózy a na tom, jak rychle je pacient diagnostikován a léčen. Někteří pacienti mohou žít jen několik let po stanovení diagnózy, někteří mohou žít delší dobu. Celkově se lidé obvykle dožívají 7-12 let od stanovení diagnózy. [8] Doporučení Pokud víte o případech dědičné amyloidózy ve vaší rodině, neváhejte se obrátit na odborného lékaře. Včasná diagnostika je klíčová.

### Macromo získalo nového klíčového partnera pro další růst

- URL: https://macromo.com/cs/blog/news/ziskali-jsme-noveho-klicoveho-partnera-pro-dalsi-rust
- Published: 2023-09-06
- Category: news
- Language: Czech
- Author: Katerina Markova

Po již třech měsících fungování na českém trhu jsme posílili naši pozici díky nově získané investici od soukromého investora Martina Radiny. Ten stojí za společností Spadia, jež je jedním z největších poskytovatelů laboratorní medicíny v České republice. Nově získal v naší společnosti 6% podíl. Investici plánujeme využít k dalšímu pronikání na trh, podpoře růstu zákaznické báze, tak i k dalšímu rozvoji a expanzi na nové trhy nejen v Evropě. Díky tomuto strategickému spojení získáváme silné zázemí, které nám jako začínající firmě umožní lépe se pohybovat na trhu laboratorních technologií a zároveň využít zkušeností, které etablovaný partner nabízí, ať už v oblasti managementu nebo v oblasti uvádění nových produktů na trh Nejnovější vývoj na trhu preventivní péče Přímé prodeje našich genetických testů na českém trhu v posledních měsících rostou o stovky procent. Plánujeme zaměřit svou prodejní strategii především na segment B2B zákazníků. Spolupráci jsme již navázali s předními lékárenskými řetězci a nemocnicemi, které budou naše testy dále distribuovat. Pokračujeme také v jednání s mnohými firmami, jež chtějí nabízet testy DNA ve spojení s celým systémem zdravotních doporučení Macromo jako jeden ze svých zaměstnaneckých benefitů. Nárůst výskytu chronických onemocnění a stárnutí populace zvyšuje poptávku po preventivní diagnostice a zejména po genetickém testování. Ale také zájem mladých a aktivních lidí o přesnější analýzu svého zdraví s využitím technologii jako jsou nositelné fitness trackery napomáhají urychlit již nevyhnutelnou pozitivní přeměnu našeho zdravotnictví z reaktivního na preventivní. „Testy DNA jsou užitečné v mnoha oblastech a lze předpokládat, že časem posunou lékařskou péči směrem k personalizované medicíně a poptávka po nich poroste, například i u zdravých dospělých, kteří usilují o včasnou identifikaci nebo prevenci dědičných onemocnění,“ dodává Martin Radina a vysvětluje tak svou motivaci podpořit Macromo v budoucím růstu.

### Vrozené trombofilie

- URL: https://macromo.com/cs/blog/diseases-risks/vrozene-trombofilie
- Published: 2023-09-06
- Category: diseases-risks
- Language: Czech
- Author: Hana Voberkova

Přehled Trombofilie představují skupinu poruch srážlivosti krve. Vyznačují se zvýšeným sklonem k tvorbě krevních sraženin. V důsledku toho je s tímto onemocněním spojen vyšší výskyt žilní trombózy a tromboembolických příhod. Tento stav je také znám jako hyperkoagulační stav a/nebo protrombotický stav.[1] Trombóza popisuje děj, kdy uvnitř cévy nebo srdce dojde k vytvoření krevní sraženiny. Sraženina pak způsobuje obstrukci průtoku krve. Fyziologicky jsou krevní sraženiny způsobem, jak tělo zastavuje krvácení při poškození cévy. Jakmile se poranění zahojí, trombus se rozpustí a vše se vrátí do normálu. Při trombofilii se buď sraženiny tvoří rychleji, nebo nedochází k rozpouštění těch, které se již vytvořily.[2] Tromboembolické příhody popisují situaci, kdy se trombus uvolní z místa svého vzniku do tělního oběhu a ucpe jinou cévu, což může postihnout různé orgány, způsobit jejich poškození a dokonce vést ke smrti. Mezi tyto stavy patří například plicní embolie nebo cévní mozková příhoda. Trombofilie může být buď získaná v průběhu života, nebo dědičná. Nejčastější stavy jsou uvedeny v následující tabulce. Pokud jde o získané formy, je známo, že uvedené faktory zvyšují riziko srážení krve. To však neznamená, že každý, kdo podstoupí operaci nebo má nadváhu, bude mít trombózu. Tabulka 1: Příčiny trombofilie Výskyt a rizikové faktory Předpokládá se, že značná část populace má nějakou trombofilní mutaci. U většiny z nich je pro vznik trombózy ale nutná přítomnost dalšího rizikového faktoru.Prevalence trombofilních mutací se celosvětově výrazně liší. Rizikové faktory (RF) trombofilie zahrnují: Genetika Genetická informace se dědí v párech, protože každý gen má dvě kopie, každou od jednoho z rodičů. Nejčastějším dědičným vzorcem u trombofilie je autozomálně dominantní dědičnost, což znamená, že k tomu, aby člověk měl aktivní formu onemocnění, stačí, aby měl mutaci v jedné z kopií. Pokud jsou postiženy obě kopie, riziko trombózy se ještě zvyšuje. Totéž lze říci o těch, kteří zdědili trombofilní mutace ve více než jednom genu.[5] Vzorec dědičnosti trombofilie může být autozomálně dominantní, autozomálně recesivní nebo X-vázaný, v závislosti na daném genu. Nejčastěji se jedná o gen F5 pro trombofilii faktoru V Leiden a bodovou mutaci G20210A v genu pro protrombin.[1] Známky a projevy onemocnění U některých lidí zůstává toto onemocnění po celý život neaktivní a trombóza se u nich nikdy nevyskytne. U jiných se krevní sraženiny mohou tvořit v různých orgánech a v závislosti na umístění způsobují širokou škálu příznaků. Diagnostika Trombofilie je často diagnostikována až poté, co se objeví první příznaky a pacient vyhledá lékařskou pomoc. K diagnostice trombofilie lze použít několik testů a metod: Rodinná a osobní klinická anamnéza Fyzikální vyšetření Krevní testy Zobrazovací metody - rentgen, CT, ultrazvuk Genetické testování Terapie Dosud neexistuje žádná specifická léčba trombofilie, s výjimkou případů, kdy se jedná o získanou formu v důsledku jiného onemocnění. Existují však léky, které mohou být použity buď k rozpuštění krevní sraženiny v akutních stavech (trombolytika), nebo snižují pravděpodobnost jejího vzniku, pokud jsou užívány pravidelně (léky na ředění krve, jako je heparin, warfarin nebo nová orální antikoagulancia). Při předepisování léků na ředění krve je vždy nutné posoudit přínosy a rizika spojená s léčbou. Největším rizikem je klinicky významné krvácení.[2] Prevence Existuje několik způsobů, jak trombofilii předcházet a snížit riziko trombózy:[2] Pravidelný pohyb (při dlouhých transportech při cestování, po operaci, po nemoci atd.) Hydratace Pravidelné cvičení Udržování zdravé hmotnosti Přestat kouřit Dodržování zdravé stravy Screening nádorového onemocnění Věnování pozornosti dalším zdravotním potížím, které mohou zvyšovat riziko trombózy Prognóza Riziko trombózy (a tedy i prognóza) se liší podle základního onemocnění. Významně se také zvyšuje s každým přítomným rizikovým faktorem (získaným nebo dědičným). Proto u mnoha lidí s trombofilií nikdy nebezpečná krevní sraženina nevznikne, zatímco u jiných může nastat život ohrožující příhoda.Deficit proteinu S, proteinu C a antitrombinu je mnohem méně častý, ale je spojen s vyšším rizikem žilní trombózy. Doporučení Pokud máte nadváhu, snažte se zhubnout. I malé snížení hmotnosti může být prospěšné Dodržujte dietu zdravou pro srdce - bohatou na ovoce, zeleninu a nízkotučné mléčné výrobky a chudou na maso, sladkosti a rafinované obiloviny Dodržujte pravidelný pitný režim. Zůstaňte hydratovaní Snažte se do svého každodenního života zařadit pravidelný pohyb Nekuřte

### Věkem podmíněná makulární degenerace

- URL: https://macromo.com/cs/blog/diseases-risks/vekem-podminena-makularni-degenerace
- Published: 2023-09-06
- Category: diseases-risks
- Language: Czech
- Author: Yevhenia Rakhmankina

Pozorované geny Polygenní dědičnost Významné geny: CFH, ARMS2, HTRA Varianty genu CFH mohou někdy nesprávně zasáhnout zdravé buňky těla, včetně buněk sítnice. Mutace v genu ARMS2 jsou spojovány jak s rozvojem AMD, tak s jeho progresí do pokročilých stadií. Mutace v genu HTRA jsou rovněž spojovány se vznikem a progresí AMD. Přehled Věkem podmíněná makulární degenerace (VPMD) je závažné onemocnění centrální části oční sítnice, tzv. žluté skvrny. Existují dva typy: suchá (atrofická nebo neexsudativní) a vlhká (neovaskulární a exsudativní). Suchý typ je častější (80%) a je pro něj charakteristický pomalejší průběh, zatímco vlhký typ je agresivnější a může vést ke ztrátě zraku během několika dnů až týdnů. Mezi příznaky (u obou typů) patří rozmazané vidění, neschopnost rozpoznat obličeje, slepé skvrny, potíže se čtením, zkreslené linie atd. Věkem podmíněná makulární degenerace postihuje až 170 milionů lidí na celém světě a představuje hlavní příčinu slepoty dospělých ve vyspělých zemích.Rizikovými faktory pro vznik VPMD jsou genetická predispozice, rasa, etnický původ, věk, výskyt VPMD v rodině, kouření, konzumace alkoholu, nezdravá strava, chronická onemocnění, operace šedého zákalu a některé léky. Diagnóza se stanovuje na základě anamnézy a různých vyšetřovacích metod (test zrakové ostrosti, vyšetření sítnice atd.). Léčba spočívá v odvykání kouření, regulaci krevního tlaku a doplňování vitamínů a zinku. K léčbě vlhkého typu VPMD můžeme navíc použít inhibitory VEGF. Vzniku a progresi VPMD můžete zabránit některými úpravami životního stylu (zanechání kouření, zdravá strava a fyzická aktivita). Výskyt a rizikové faktory Celosvětová prevalence VPMD se odhaduje na 170 milionů.Věkem podmíněná makulární degenerace je hlavní příčinou slepoty dospělých ve vyspělých zemích. Výskyt se liší mezi rasovými a etnickými skupinami (častější je u bělochů než u černochů, střední výskyt je u Hispánců a Číňanů). Zvyšuje se také s věkem (po 50. roce života) a je výraznější po 65. roce života. U osob s rodinnou anamnézou VPMD je typický časný nástup a závažnější průběh onemocnění. Dalšími rizikovými faktory pro vznik VPMD jsou kouření, konzumace alkoholu, nezdravá strava, chronická onemocnění (mozková mrtvice, ischemická choroba srdeční, hypertenze, AIDS, myeloproliferativní onemocnění), operace šedého zákalu a některé léky (aspirin, nitroglycerin, beta-blokátory). Genetika Bylo identifikováno více než 30 genů, které jsou spojeny se zvýšeným rizikem vzniku VPMD. Jedním z nich je gen CHF (komplementový faktor H), u něhož bylo zjištěno několik variant, které jsou spojeny s VPMD. Známky a projevy onemocnění Existují 2 typy věkem podmíněné makulární degenerace: suchá (atrofická nebo neexsudativní) a vlhká (neovaskulární a exsudativní). Suchá forma VPMD je nejčastější a tvoří přibližně 80% všech případů. Ztráta zraku je v tomto případě obvykle pomalá. Časná VPMD je často asymptomatická, poté dochází k postupné ztrátě zraku na jednom nebo obou očích. Může se projevovat rozmazaným viděním, neschopností rozpoznat obličeje, slepými skvrnami a potížemi se čtením. Vlhká forma VPMD je méně častá, ale tvoří 80% případů s těžkou ztrátou zraku nebo slepotou. Vyznačuje se rychlým zkreslením a ztrátou centrálního vidění v průběhu několika dnů až týdnů. Obvykle se objevuje na jednom oku, i když onemocnění je často přítomno na obou očích. Zkreslení přímých čar (metamorfopsie) je jednou z prvních změn pozorovaných u vlhké VPMD. Pacienti si také mohou stěžovat na tmavou skvrnu v centrálním vidění (tzv. skotom). Většina pacientů s pokročilou VPMD ztrácí centrální vidění, ale jen zřídka ztrácí periferní vidění. U periferního vidění dopadá totiž paprsek světla mimo žlutou skvrnu a pomáhá člověku v prostorové orientaci tím, že ho informuje o pohybu v jeho okolí. U menšiny pacientů může suchá forma přejít ve vlhkou. Diagnostika Diagnóza se opírá o anamnézu a různé vyšetřovací metody. Lékař může provést test zrakové ostrosti, aby změřil schopnost vidění na různé vzdálenosti. Farmakologicky lze docílit rozšíření zornic tak, aby bylo možné vyšetřit sítnici zblízka. Mezi další testy, které lze provést, patří fluorescenční angiografie, optická koherentní tomografie (OCT) a autofluorescence fundu. Pacienti by si měli každý den subjektivně otestovat obě oči a okamžitě nahlásit svému lékaři zkreslení čar nebo skotomy. Terapie Léčba se liší v závislosti na typu VPMD. U suchého typu se doporučuje přestat kouřit, kontrolovat krevní tlak a doplňovat antioxidační vitaminy (A, C, E) a zinek. Ty se používají i při léčbě vlhkého typu. Kromě toho lze vlhký typ VPMD léčit intravitreálními injekcemi inhibitorů VEGF (vaskulárního endoteliálního růstového faktoru), například ranibizumabu. Prevence Zdravé životní návyky mohou být užitečné při prevenci VPMD. Mezi ně patří zanechání kouření, fyzická aktivita a zdravá strava. Strava by měla zahrnovat ovoce, zelenou listovou zeleninu, ryby a ořechy. Měly by se užívat také doplňky stravy a vitamíny (B, E, C, A). Prognóza Výrazná ztráta zraku má velký dopad na funkční stav a kvalitu života člověka. Omezuje schopnost bezpečně řídit auto a je spojena se zvýšeným výskytem pádů a zlomenin kyčlí. Také má za následek invaliditu a klinickou depresi u více než třetiny pacientů, ale včasnou a vhodnou léčbou lze většině nepříznivých důsledků zabránit. Doporučení Pokud se u vás objeví jakékoli příznaky, navštivte svého lékaře Zlepšete svůj zdravotní stav odvykáním kouření a fyzickou aktivitou Dodržujte zdravou stravu, která zahrnuje ovoce, zelenou listovou zeleninu, ryby a ořechy Užívejte výživové a vitamínové doplňky Pacienti by měli denně testovat každé oko a okamžitě hlásit svému lékaři zkreslení čar nebo skotomy

### Urologické léky

- URL: https://macromo.com/cs/blog/medications/urologicke-leky
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Urologické léky Přípravky používané pro léčbu poruch močového ústrojí, například inkontinence moči, hyperaktivního močového měchýře a benigní hyperplazie prostaty. Uvolňují svaly močového měchýře nebo zmenšují prostatu, čímž zlepšují průtok moči. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Nitrofurantoin Phenazopyridine Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Syndrom Noonanové

- URL: https://macromo.com/cs/blog/diseases-risks/syndrom-noonanove
- Published: 2023-09-06
- Category: diseases-risks
- Language: Czech
- Author: Luisa Gaspar

Přehled Syndrom Noonanové je vzácné genetické onemocnění. Tento syndrom se vyznačuje obličejovým dysmorfismem, malým vzrůstem, srdečními vadami, problémy s krvácením a malformacemi kostry. Výskyt a rizikové faktory Syndrom Noonanové se vyskytuje u 1:1000 až 1:2500 lidí. Genetika Syndrom Noonanové je autozomálně dominantní onemocnění, což znamená, že ke vzniku tohoto onemocnění stačí pouze jedna kopie změněného nebo mutovaného genu. Příčinou syndromu je nejčastěji mutace v genu PTPN11 a vzácněji také v genech SOS1, RAF1 a RIT1. Tyto geny se podílejí na buněčném dělení a růstu buněk. Kromě toho hrají také důležitou roli v intracelulárních signálních drahách, které se podílejí na diferenciaci (vývoji) buněk. Role těchto genů je patrná zejména u semilunárních srdečních chlopních (např. plicní chlopeň). Známky a projevy onemocnění Diagnostika Syndrom Noonanové má velmi typické klinické projevy, jako je obličejový dysmorfismus, abnormality skeletu a srdeční vady, které se projevují již v kojeneckém věku. Diagnózu potvrzuje genetické vyšetření. V některých případech lze genetické vyšetření provést prenatálně. Indikací může být přítomnost cystického hygromu (zduření v oblasti krku) a zvýšená nuchální translucence při prenatálním ultrazvukovém vyšetření. Terapie a prevence Léčba syndromu Noonanové se zaměřuje na zmírnění příznaků a léčbu komplikací. To zahrnuje případnou operaci srdce a léčbu růstovým hormonem ke zvýšení výšky dítěte. Nověji lze terapii růstovým hormonem nahradit injekcemi somatotropinu. Dětem s poruchami učení lze nabídnout speciální vzdělávací programy. Prognóza Prognóza syndromu Noonanové závisí na závažnosti příznaků, zejména na závažnosti vrozených srdečních vad. Studie ukazují, že syndrom Noonanové může zvýšit mortalitu až trojnásobně ve srovnání s běžnou populací. Pro většinu lidí však může být délka života normální. Doporučení Speciální vzdělávání může pomoci zmírnit vývojové poruchy u dítěte s Noonanovým syndromem

### Syndrom krátkého QT

- URL: https://macromo.com/cs/blog/diseases-risks/syndrom-kratkeho-qt
- Published: 2023-09-06
- Category: diseases-risks
- Language: Czech
- Author: Hana Voberkova

Přehled Syndrom krátkého QT ( angl. Short QT Syndrome, SQTS ) je dědičným typem poruchy srdečního rytmu. Patří mezi tzv. kanálopatie, které se vyznačují změnou průtoku iontů buněčnou membránou. V srdci tento pohyb částic (elektricky nabitých částic sodíku, vápníku, draslíku a chloridu) přes iontové kanály generuje srdeční akční potenciál - elektrický signál, který se šíří buňkami a vyvolává stah srdce - a je tedy základem elektrické aktivity srdce. Předpokládá se, že hlavní příčinou SQTS je porucha funkce draslíkových a vápníkových iontových kanálů, která vede k abnormálnímu zkrácení QT intervalu.[2] Q-T interval je úsek na EKG, který představuje dobu, za kterou elektrický signál projde srdečními komorami a poté se znovu nabije. Zároveň odpovídá době, za kterou se srdce stihne zotavit po předchozí kontrakci. Tepová frekvence u SQTS je obvykle normální, ale celkový čas na zotavení srdce je mnohem kratší. Dalším rozdílem od zdravého srdce je to, že Q-T interval se nemění spolu se změnou tepové frekvence. Za normálních okolností se interval prodlužuje s pomalejší frekvencí a zkracuje s rychlejší.[3] Zkrácení QT intervalu vysoce zvyšuje riziko abnormálního srdečního rytmu, protože myokard se vybíjí a nabíjí rychleji než normálně. Tyto změny rytmu často zahrnují fibrilaci síní, fibrilaci komor a komorovou tachykardii.[1] Při normálním srdečním rytmu procházejí elektrické signály srdečním svalem v pravidelných intervalech. Během fibrilace se elektrické impulzy šíří rychle a neuspořádaně a bez jakékoliv pravidelnosti. Následkem je, že příslušné srdeční oddíly ztrácejí schopnost účinně pumpovat krev. Fibrilace síní způsobuje nepravidelný, velmi rychlý srdeční rytmus, protože chaotické impulzy ze síní se s naprostou nepravidelností (i když s nižší frekvencí) přenášejí i do komor. Komorová tachykardie je velmi rychlá srdeční frekvence vycházející ze srdečních komor. Čím déle komorová tachykardie trvá, tím je nebezpečnější, protože může snadno přejít ve fibrilaci komor a zástavu srdce. Fibrilace komor způsobuje, že se komory místo stahování pouze chvějí, srdce není schopno vůbec pumpovat krev a dochází k jeho zástavě. Výskyt a rizikové faktory Vzhledem k omezenému počtu zdokumentovaných případů na celém světě (doposud je v literatuře uváděno přibližně 300 případů po dvou desetiletích výzkumu) je obtížné určit skutečnou prevalenci v celosvětovém měřítku. Relevance studií o SQTS je sporná také kvůli chybějícím diagnostickým kritériím, jako je mezní hodnota QT nebo znalost rizikových faktorů. Na základě kohortových studií z posledních let se prevalence odhaduje na 0,02 až 0,1 % u dospělých, zatímco v dětské populaci by měla být 0,05 %. Stratifikace rizika a nedostatek rizikových identifikátorů představují doposud největší výzvu pro léčbu pacientů se SQTS, a to především kvůli nízkému počtu zdokumentovaných pacientů. Skórovací systémy se skládají především ze čtyř nezávislých složek: EKG, klinická anamnéza, rodinná anamnéza a genotyp.[1,4,6] Genetika SQTS je geneticky heterogenní onemocnění (jak z hlediska genotypu, tak fenotypu). Nejnovější studie popisují mutace v osmi různých genech (tři způsobují získání funkce a pět ztrátu funkce), které kódují různé srdeční iontové kanály, ale také karnitinový transportér a chlorid-bikarbonátový výměník. Tyto formy byly vědci identifikovány a označeny SQT1 až SQT8 na základě chronologie jejich objevení. Mnoho genů, které se podílejí na vzniku SQTS, se také podílí na vzniku LQTS (syndrom dlouhého QT), ale s opačnou mutací. Většina případů SQTS se vyskytuje v rodinách a má autozomálně dominantní průběh, nicméně toto onemocnění může být také získané a je důležité mezi nimi rozlišovat. Známky a projevy onemocnění Klinický obraz SQTS je variabilní a až 40 % případů je asymptomatických.Nejčastějšími klinickými projevy jsou: závratě bušení srdce fibrilace síní komorové arytmie synkopa náhlá srdeční smrt - může být příčinou syndromu náhlého úmrtí kojence Pokud stav způsobuje fibrilaci síní, mohou se objevit i další příznaky, jako je dušnost, únava, bolest na hrudi nebo dokonce tromboembolické příhody.[1,4] Diagnostika Hlavním problémem v klinické diagnostice je mezní hodnota QT a QTc (hodnota intervalu korigovaná na srdeční frekvenci pacienta) a její definice. Ačkoli EKG nález může být prvním krokem ke správné diagnóze, samotná přítomnost krátkého QT intervalu k diagnóze nestačí. Ke konečné diagnóze často přispívá klinická anamnéza, rodinná anamnéza a výsledky vyšetření genotypu.[1] V současné době se podle pokynů guidelines používají následující diagnostická kritéria:[4] EKG nález QTc ≤ 340 ms nebo EKG nález QTc ≤ 360 ms a jedna nebo více z následujících hodnot:[1,4] potvrzená patogenní mutace rodinná anamnéza SQTS rodinná anamnéza náhlé srdeční smrti před 40. rokem věku anamnéza komorové tachykardie či fibrilace v nepřítomnosti jiného srdečního onemocnění Pacienti by měli být vyšetřeni na SQTS také v případě, že:[3] přežili náhlou srdeční smrt mají klinickou anamnézu komorové tachykardie a/nebo fibrilace bez známé příčiny mají v anamnéze neobjasněné synkopy se u nich objevila fibrilace síní v mladém věku mají rodinnou anamnézu SQTS a/nebo náhlé srdeční smrti Jak již bylo zmíněno, tento stav může být také získán a jako takový může být často zvrácen správnou léčbou. Proto je vždy důležité mezi těmito formami onemocnění rozlišovat. Mezi získané příčiny krátkého QT intervalu patří:[1] hyperkalémie hyperkalcémie acidóza hypertermie účinek léků, jako je digitalis účinek acetylcholinu nebo katecholaminu ischemie myokardu zvýšený vagový tonus Terapie V zásadě existují dvě možnosti léčby: Implantabilní kardioverter-defibrilátor (ICD) ICD je přístroj, který nepřetržitě monitoruje srdeční rytmus a při zjištění arytmie vyšle do srdečního svalu elektrický impuls. To způsobí obnovení normálního srdečního rytmu. ICD se doporučuje u symptomatických pacientů, kteří buď přežili náhlou srdeční zástavu a/nebo mají dokumentovanou spontánní trvalou komorovou tachykardii s anamnézou synkopy nebo bez ní. Léky Farmakologická léčba se používá především ke snížení pravděpodobnosti nutnosti výboje ICD. Může být také primární léčebnou modalitou u pacientů, kteří odmítají ICD, u pacientů s absolutní kontraindikací k zavedení ICD nebo u velmi mladých pacientů, u nichž je implantace ICD problematická.Údaje týkající se farmakologické léčby u SQTS jsou však velmi omezené. Prevence Jediným prokázaným prediktorem srdeční zástavy u pacienta s SQTS je srdeční zástava v anamnéze. Optimální strategie primární prevence proto zůstává předmětem sporů. V současné době doporučují guidelines ICD jako první a nejúčinnější terapeutické opatření u pacientů, kteří prodělali komorovou tachykardii či fibrilaci nebo přežili srdeční zástavu.[1] Pro úplnou prevenci náhlé srdeční smrti je v současné době pravděpodobně nejpřínosnějším nástrojem důkladný screening. Ten je užitečný zejména u osob s vyšším rizikem SQTS:[7] Rodinní příslušníci obětí náhlé srdeční smrti Pacienti s dokumentovanou nebo suspektní komorovou arytmií Prognóza Včasná správná diagnóza a optimální léčba významně zlepšují prognózu pacientů s SQTS, i když přesnou dlouhodobou prognózu těchto pacientů je vzhledem k malému počtu zdokumentovaných případů stále obtížné posoudit.[1] Doporučení Pokud zaznamenáte bušení srdce, dušnost, mdloby, závratě nebo únavu, nepodceňujte tento stav a konzultujte ho s lékařem Pokud byl u vašeho rodinného příslušníka diagnostikován SQTS, měli byste být na toto onemocnění vyšetřeni i vy. Vyhodnocení by mělo vždy zahrnovat screening, EKG a genetické vyšetření

### Statiny

- URL: https://macromo.com/cs/blog/medications/statiny
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Statiny Skupina léků snižujících hladinu cholesterolu, inhibujících enzym zodpovědný za syntézu cholesterolu. Pomáhají předcházet kardiovaskulárním onemocněním tím, že snižují hladinu LDL cholesterolu a omezují tvorbu plaku v tepnách. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Atorvastatin Fluvastatin Lovastatin Pitavastatin Pravastatin Rosuvastatin Simvastatin Doporučení Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Psychiatrické léky

- URL: https://macromo.com/cs/blog/medications/psychiatricke-leky
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Psychiatrické léky Pomocí těchto léků lze léčit širokou škálu duševních poruch, například depresi, úzkost a schizofrenii. Pomáhají zlepšit příznaky tím, že vyrovnávají chemické látky v mozku, což pacientům umožňuje vést kvalitnější život. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Amitriptylin Aripiprazol Brexpiprazol Citalopram Klomipramin Desipramin Doxepin Escitalopram Fluvoxamin Haloperidol Imipramin Nortriptylin Paroxetin Pimozid Quetiapin Risperidon Sertralin Trimipramin Venlafaxin Zuklopenthixol Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Přečtěte si názory odborníků na Macromo

- URL: https://macromo.com/cs/blog/news/prectete-si-nazory-odborniku-na-macromo
- Published: 2023-09-06
- Category: news
- Language: Czech
- Author: Petr Stepanek

Zajímá vás, jaké jsou vaše genetické dispozice a jak mohou ovlivnit vaše zdraví? V posledních několika letech vzrůstá popularita domácího genetického testování, které jednotlivcům umožňuje dozvědět se více o své DNA. Co však na tento trend říkají odborníci? V tomto článku si vyslechneme názory různých zdravotnických odborníků na možné výhody a omezení genetického testování pro preventivní zdravotní péči. Tito odborníci, od genetiků až po lékaře, nabízejí pohled na roli genetického testování v proaktivní péči o zdraví a svůj pohled na ni. Ing. Lenka Piherová, Ph.D. Klinický genetik Preventivní zdravotní péče zvyšuje pravděpodobnost, že včas předejdeme onemocněním, která by nás stála život. Důležité je si uvědomit, že každý máme z části zdraví ve svých rukou. Díky velkému technologickému a vědeckému pokroku je nyní možné sledovat predispozice k řadě onemocnění. Ing. Antonín Králík, Dr. rer. Nat. Seniorní analytik a patentový specialista Vždy jsem se rád pozoroval grafy a tabulky, které ukazují mé tělesné metriky, aktivitu, biochemické analýzy, diagnostické výsledky a celkově mé zdraví. To vše Macromo shromažďuje v jedné aplikaci a nejen to - poskytuje vám vysoce personalizovaná doporučení, jak žít lepší a zdravější život. Mgr. Václav Janoušek, Ph.D. Bioinformatik V moderní zdravotní péči je na vzestupu trend personalizace. Výsledky testů DNA lze propojit s dalšími zdroji zdravotních údajů, jako jsou elektronické zdravotní záznamy, nositelná zařízení a další aplikace, a získat tak komplexnější pohled na zdravotní stav jednotlivce. Tento přístup může být užitečný zejména pro prevenci mnoha onemocnění, protože pomáhá identifikovat potenciální zdravotní rizika a umožňuje jednotlivcům podniknout proaktivní kroky k udržení svého zdraví. Macromo přesně takový přístup podporuje díky své mobilní aplikaci. Ing. Jan Kelča MBA MDR specialista Bezpečnost osobních údajů a GDPR jsou důležitými aspekty, pokud jde o domácí genetické testování. Společnost Macromo zavedla řadu opatření, aby zajistila bezpečnost a ochranu genetických údajů svých zákazníků, včetně robustních a zabezpečených praktik uchovávání dat. Kromě toho společnost transparentně informuje o svých postupech při nakládání s údaji uživatelů. Zodpovědným přístupem k nakládání s údaji mohou společnosti jako Macromo přispět k budování důvěry u svých zákazníků a zajistit, aby se jednotlivci cítili komfortně a s jistotou při sdílení svých genetických informací prostřednictvím těchto služeb. Doporučení Onemocnění vznikají na základě kombinace vlivů genetiky, životního stylu a prostředí, na cemž se shoduje odborná veřejnost. Macromo má za cíl spojit všechny tyto zdroje dat v jedné aplikaci a poskytnout přesná doporučení pro zdravější život. Vaše genetická informace se po dobu vašeho života nemění. Jediný test vám tedy poskytne informace, které jsou relevantní po zbytek vašeho života . Mnoho onemocnění je ovlivnitelných včasnou změnou životní stylu či zásahem lékaře, je tedy stěžejní znát svá rizika dopředu Genetický test je jednoduchý. Spočívá v domacím odběru slin a jejich následným odesláním do laboratoře.

### Osteoartróza

- URL: https://macromo.com/cs/blog/diseases-risks/osteoartroza
- Published: 2023-09-06
- Category: diseases-risks
- Language: Czech
- Author: Nuno Lemos

Přehled Osteoartróza je degenerativní onemocnění kloubů. Kosti tvořící kloub jsou neustále ve vzájemném kontaktu, což vede ke změně tvaru kloubu a ztrátě ochranné chrupavky. Chronické tření časem způsobuje řadu příznaků - nejčastěji bolest, ztuhlost a otok kloubu. Na dalším překladu se pracuje, zatím se můžete podívat na náš anglický článek zde nebo se k němu vrátit později.

### Onkologické léky

- URL: https://macromo.com/cs/blog/medications/onkologicke-leky
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Onkologické léky Široká skupina léků, které se používají k léčbě rakoviny prostřednictvím cíleného ničení rakovinných buněk. Mezi tyto léky patří chemoterapie, cílená léčba a imunoterapeutika, jejichž cílem je zabránit progresi a recidivě rakoviny. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Kapecitabin Doxorubicin Irinotekan Peglotikáza Rasburikáza Tamoxifen Tegafur Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Novoroční předsevzetí splní jen 8 % lidí. Chcete patřit mezi ně?

- URL: https://macromo.com/cs/blog/news/novorocni-predsevzeti-splni-jen-8-lidi-chcete-patrit-mezi-ne
- Published: 2023-09-06
- Category: news
- Language: Czech
- Author: Nuataa Sonaya

Buďte realističtí Novoroční předsevzetí dodrží jen 8 % lidí.[1] Proč je tak těžké je dodržet? předsevzetí jsou špatně formulovaná, neberou v potaz naše návyky, nemáme k nim vytvořený konkrétní plán, Vaše cíle by měly být chytré – a SMART, což je zkratka vytvořená v časopise Management Review v roce 1981 pro konkrétní, měřitelné, dosažitelné, relevantní a časově vymezené (specific, measurable, achievable, relevant and time-bound). Pokud je například vaším předsevzetím: „Chci zhubnout.”, měli byste se sami sebe zeptat na otázku, proč vlastně chcete zhubnout. To vám pomůže se správnou motivací. Dále si určete o kolik kilogramů, za jak dlouho a jak budete měřit svůj postup. Nezapomeňte, že váš cíl by měl být realistický. Vytvořte si plán Velkých cílů lze dosáhnout i malými krůčky. Měli byste proto svůj velký cíl rozdělit na dílčí části a používat správné nástroje , které vám jejich realizaci ulehčí. V dnešní technologické době existuje spoustu možností, jak to udělat. Používáte například chytré hodinky? Ukážou vám počet kroků, které jste za den ušli, spálené kalorie a další parametry, které vám v realizaci vašeho cíle mohou pomoci. Stejně tak plánovače úkolů, kalendář a další aplikace vám mohou přijít vhod. Macromo pro lepší 2023 Aplikace Macromo vám může pomoci v nastavení takových předsevzetí, která budou přizpůsobená na míru vašemu tělu a jeho potřebám. Na základě dat z DNA analýzy a analýzy vašeho životního stylu tvoříme doporučení pro vaše zdraví , která jsou konkrétní a nastavená přímo pro vás - podle vaší DNA. Bude-li se například vaše předsevzetí týkat snížení tělesné hmotnosti, dozvíte se bližší informace o svém metabolismu i o tom, jaká sportovní aktivita je pro vás vhodná. Příklady novoročních předsevzetí , se kterými vám aplikace Macromo pomůže: Chci shodit pár kil a cítit se lépe - Aplikace Macromo vám ukáže, na jaké živiny byste se měli ve svém jídelníčku zaměřit, jakým byste se měli naopak vyvarovat a jaká sportovní aktivita je pro vaše tělo vhodná. Chci pít méně kávy. Macromo vám ukáže, jaký máte kofeinový metabolismus a jak rychle metabolizujete kofein. Díky tomu budete vědět, zda si můžete dát poslední kávu v pozdních odpoledních hodinách či nikoli. Chci začít cvičit. Najděte si fyzickou aktivitu, která je vhodná přímo pro vaše tělo a ke které máte vrozené predispozice. Macromo vám ukáže vám pomůže předejít častým sportovním zraněním. Chci se zaměřit na lepší prevenci - Macromo na základě analýzy vašich genů doporučí, na jaká preventivní vyšetření byste měli chodit častěji a která rizika si hlídat. Chci jíst zdravěji. V aplikaci zjistíte, jaký příjem živin, vitamínů a minerálů byste si měli především ohlídat. Je možné, že vaše tělo vyžaduje větší množství určitých látek, u kterých je dobré si hlídat jejich dostatečný příjem. Chci zlepšit svou spánkovou rutinu. Z vaší DNA lze zjistit, jakou máte genetickou preferenci pro váš chronotyp (ranní ptáče a noční sova) a na základě toho optimalizovat svůj spánek. Aplikace Macromo vám doporučí, jaké konkrétní kroky můžete podniknout k jeho zlepšení, včetně lepší spánkové hygieny. Chci mít svou genetickou výbavu pod kontrolou. Analýza DNA společně s aplikací Macromo vám ukáže, jaké máte genetické predispozice, a včas tím odhalí jaká rizika máte ve svých genech. V praktických krocích vám doporučí, jak lépe pečovat o své srdce, jakému jídlu se vyhýbat, jaké fyzické aktivitě se věnovat a jaké zdravotní prohlídky podstupovat častěji. Buďte flexibilní a najděte v sobě oporu Ne vždy jde všechno podle plánu, vytvořte si proto záložní plán . Připravte se včas na možné překážky a pocity selhání. Co byste v daný moment řekli svému nejlepšímu kamarádovi/kamarádce? Jistě byste se ho snažili podpořit a namotivovat, i když by se snažil svůj návyk změnit již poněkolikáté. Na dodržování novoročních předsevzetí nemusíte být sami . Zkuste si předsevzetí dát se svou kamarádkou, někým z rodiny nebo se staňte součástí komunity. I online komunity vám se splněním předsevzetí mohou pomoci - nebojte se najít si parťáka na některé ze sociálních sítích. Společně toho jistě dokážete více a budete se motivovat v těžkých chvílích. Zdravý rok 2023! Přejeme vám hodně zdraví do nového roku. Ať se vám vaše novoroční předsevzetí splní a nacházíte v sobě motivaci v jeho dodržování - Macromo je tu pro vás. Doporučení Nastavte a naplánujte si správně svá novoroční předsevzetí tak, aby byla SMART - konkrétní, měřitelné, dosažitelné, relevantní a časově vymezená. Vytvořte si konkrétní plán, jak budete předsevzetí plnit, a to i plán B v případě, když se vám původní plán nevydaří. Svůj cíl si rozdělte na cíle dílčí a k jejich realizaci používejte ty správné nástroje. Aplikace Macromo vám může pomoci v nastavení takových předsevzetí, která budou přizpůsobená na míru vašemu tělu a jeho potřebám.

### Neurologické léky

- URL: https://macromo.com/cs/blog/medications/neurologicke-leky
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Neurologické léky Léky cílené na nervový systém, používané k léčbě onemocnění, jako je epilepsie, roztroušená skleróza a Parkinsonova choroba. Působí tak, že stabilizují funkci nervových buněk, zmírňují příznaky a zlepšují kvalitu života pacientů. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Atomoxetine Carbamazepine Fosphenytoin Oxcarbazepine Phenytoin Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Macromo má za sebou úspěšný rok 2022 a první čtyři měsíce od spuštění prodejů

- URL: https://macromo.com/cs/blog/news/macromo-ma-za-sebou-uspesny-rok-2022-a-prvni-ctyri-mesice-od-spusteni-prodeju
- Published: 2023-09-06
- Category: news
- Language: Czech
- Author: Viktoria Konigova

Zakladatelský tým strávil první čtvrtletí v USA získáváním nových zkušeností, sbíráním zpětné vazby na první verze produktu a navazováním kontaktů s investory. Na jaře jsme vyvinuli první verzi systému Macromo Engine , který poskytuje našim uživatelům personalizovaná zdravotní doporučení na základě nejnovějšího vědeckého výzkumu. Využívá k tomu kombinaci dat získaných z DNA s informacemi o životním stylu a dalšími relevantními údaji o lidském zdraví. Abychom dosáhli nejvyšší možné kvality našich DNA testů, zahájili jsme na přelomu května a června spolupráci s renomovanou společností Eurofins , která je předním světovým poskytovatelem genomických služeb v oblasti sekvenování nové generace. V létě jsme spustili blog Macromo Insider, kde srozumitelnou formou zpracováváme odborná témata týkající se genomiky, prevence nemocí a zdravého životního stylu. Na konci srpna jsme pak začali s prodejem DNA testů a osekvenovali jsme náš první kompletní genom. Zároveň jsme vydali naši mobilní aplikaci , která zákazníkům umožňuje přístup k výsledkům testů a personalizovaným zdravotním doporučením. Eva a Petr se v říjnu vrátili do San Francisca, aby pokračovali ve své jarní misi a rozšiřovali své kontakty v oblasti investic i biotechnologií. Budování nových významných partnerství pokračovalo také v Česku, kde Macromo navázalo spolupráci s Nemocnicí Hořovice a také se společností Pilulka.cz . Důležitým listopadovým milníkem byl také vstup nového investora – společnosti Spadia Lab . A co připravujeme letos? V roce 2023 připravujeme integraci mobilní aplikace se službou Apple Health , která uživatelům umožní sledovat své aktivity, spánek a další faktory v souvislosti s jejich genetickými předpoklady. Databázi kompatibilních vstupních dat budeme dále rozšiřovat o výsledky laboratorních testů . Vedle dlouhodobých genetických výsledků tak bude možné přehledně sledovat i aktuální ukazatele celkového zdravotního stavu. Pokud se chcete o fungování společnosti Macromo dozvědět více, přečtěte si další články ze sekce Aktuality nebo nás sledujte na sociálních sítích.

### Léky proti krevním destičkám

- URL: https://macromo.com/cs/blog/medications/leky-proti-krevnim-destickam
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Léky proti krevním destičkám Léky, které zabraňují tvorbě krevních sraženin tím, že znemožňují slepování krevních destiček. Primárně se používají pro snížení rizika srdečního infarktu, mrtvice a dalších komplikací souvisejících se sraženinami. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Aspirin Klopidogrel Doporučení Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Kardiovaskulární léky

- URL: https://macromo.com/cs/blog/medications/kardiovaskularni-leky
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Kardiovaskulární léky Tyto léky působí na srdce a cévy a léčí stavy, jako je vysoký krevní tlak, srdeční selhání a angina pectoris. Jsou určeny k prevenci srdečních záchvatů, mrtvice a dalších kardiovaskulárních příhod. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Aspirin Atorvastatin Klopidogrel Flekainid Fluvastatin Lovastatin Metoprolol Pitavastatin Pravastatin Propafenon Rosuvastatin Simvastatin Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Jak často cvičit? 11 tipů, jak se hýbat více

- URL: https://macromo.com/cs/blog/fitness-and-sport/jak-casto-cvicit-11-tipu-jak-se-vice-hybat-kazdy-den
- Published: 2023-09-06
- Category: fitness-and-sport
- Language: Czech
- Author: Nuataa Sonaya

Všichni víme, že cvičení je prospěšné pro naše zdraví. Obecně se doporučuje aktivně cvičit minimálně 30 minut denně. [1] Vyhradit si ale čas na cvičení je často obtížné. Náš rozvrh je tak plný, že v našem volném čase hledáme spíš odpočinek než další činnost. Pokud jste i vy tak zaneprázdnění, zkuste pohyb využít jako příležitost k tomu vyjít ze své každodenní rutiny. Zapojte ho do vašich každodenních aktivit. Hledejte příležitosti k pohybu v průběhu svého dne Podívejte se na svůj den a hledejte i ty nejmenší způsoby, jak byste se mohli více hýbat. V jakých okamžicích byste mohli v průběhu dne více aktivně využít své tělo? Udělejte si z toho hru a buďte kreativní. Vaše tělo není neustále unavené. Často je unavené z dlouhého sezení nebo přemýšlení a častější pohyb by naopak uvítalo. Jak se můžete hýbat častěji? Sdílíme s vámi pár tipů: 1. Udělejte si z cesty do práce procházku Když jde člověk do práce nebo z práce, už se vidí v práci nebo doma. O cestě ani tak nepřemýšlí, spíše už tam chce být. Dojíždění a cestu do práce často nebereme jako cestu, kterou bychom si mohli užít. Zkuste však tento koncept změnit a z uspěchané cesty si udělat ranní a večerní procházku. Nadýchat se čerstvého vzduchu, pozorovat západ slunce, vyšlápnout si schody místo výtahu, na chvíli přestat přemýšlet… Nejenže vás to uklidní, ale také se budete více hýbat a pečovat o své zdraví. Pokud vás chození příliš neláká, zkuste občas šlápnout do pedálů a do práce přijet na kole. 2. Udělejte si online meeting v přírodě Sedavé zaměstnání má negativní vliv na naše zdraví. Je prokázáno, že dlouhé sezení má řadu negativních zdravotních účinků, od obezity a vysokého krevního tlaku až po abnormální hladiny cholesterolu a dokonce zvýšené riziko srdečních onemocnění a rakoviny.[2] Dnes se mnoho našich schůzek odehrává online. Můžete proto meeting přemístit z kanceláře ven, ze židle na procházku. Pokud to půjde, zkuste nějaký z meetingů uskutečnit v parku. Nandejte si sluchátka, povídejte si s kolegy online po telefonu a při meetingu se procházejte. Vaše nohy i záda vám za to určitě poděkují. 3. Využijte svou přestávku k protažení Studie z roku 2015[3] zjistila, že pokud sedíme dlouhou dobu, má to negativní důsledky na naše zdraví bez ohledu na další fyzickou aktivitu. Znamená to, že pokud prosedíte 8 hodin denně v kuse, hodina cvičení poté vám to nevynahradí. Měli bychom proto svým tělem hýbat pravidelně v průběhu dne. Zkuste využít své přestávky v práci i ve prospěch svého zdraví. Potřebujete si odskočit, jít se napít, nebo něco vyřešit s kolegou? Pokaždé, když se zvednete ze své pracovní židle, pamatujte na svá záda a své tělo a protáhněte se. Stačí pár cviků, které si pamatujete z tělesné výchovy ze školy. Projděte se, prodýchejte se. Podpoří to váš oběhový systém i vaši produktivitu. 4. Pamatujte na pitný režim Všichni asi známe obecné doporučení, že bychom měli vypít minimálně 2-3 litry denně. Přesné množství však závisí na věku, hmotnosti, úrovni fyzické aktivity, celkovém zdraví a dokonce i klimatu, ve kterém žijeme.[4] Kdo však skutečně vypije téměř 3 litry vody denně? Zkuste pitný režim propojit s jiným návykem. Postavte si plnou skleničku vody vedle obrazovky a pokaždé, když ji dopijete, se zvedněte a doplňte ji. Dodržování pitného režimu hydratuje naše tělo, osvěžuje naši mysl, zlepšuje náš mentální výkon a je prevencí k časté únavě. A nejen to - čím více vody vypijete, tím častěji si budete potřebovat odskočit na toaletu a budete se moci protáhnout. 5. Dejte si oběd venku Místo toho, abyste si zašli do restaurace nebo zůstali zavření v kanceláři, zkuste si svůj oběd vzít ven. Domluvte se s přáteli a využijte pauzu na oběd k tomu se projít, nadýchat se čerstvého vzduchu a najíst se v přírodě. Každodenní chůze venku má pozitivní vliv na naše zdraví. Je prevencí onemocnění chronických onemocnění[5], onemocnění oběhového systému[6], obezity[7], špatných nálad[8] i nedostatku vitamínu D. 6. Změňte svou polohu při práci na stání či sezení na míči Pořiďte si polohovací stůl a sezení prostřídejte stáním, nebo si pořiďte gymnastický míč. Dejte si však pozor na rovná záda. Člověk se často u dlouhého stání či sezení na míči unaví a místo toho, aby mu to bylo prospěšné, tak nakonec sedí nebo stojí se zkroucenými zády, protože hledá způsoby, jak si ulevit. Pokud si toho všimnete a ucítíte, že vám je to spíše nepříjemné než příjemné, je čas na to se protáhnout a znovu se posadit. 7. Zorganizujte si svůj pracovní čas lépe Naše produktivita a kreativita je přímo úměrná s tím, jak často si děláme přestávky. Dlouhé sezení ani koncentrace na jeden úkon po příliš dlouhou dobu neprospívá ani nám ani naší produktivitě. Dělejte si v práci přestávky k osvěžení své mysli i těla. Vyzkoušejte, co vám vyhovuje nejlépe. Dle čínské studie z roku 2013 doporučení pro efektivní produktivitu je pracovat 52 minut a dát si 17 minutovou přestávku.[9] Experimentujte s časovými úseky a optimalizujte organizaci svého času a rozdělení pozornosti. Přestávku využijte k protažení a pohybu. 8. Pořiďte si pejska Samozřejmě vám neradíme si pejska pořídit jen proto, abyste měli větší motivaci se více hýbat. Pokud však pořízení pejska plánujete, zkuste procházky s ním využít i pro sebe a projít se s ním v průběhu dne. Dnes už mnoho zaměstnavatelů dovoluje přinést si pejska do kanceláře. Vezměte ho s sebou a nechte jej zpestřit vám váš den častějšími procházkami. Nebo zvažte občas vyvenčit pejska vašich kamarádů, známých, kolegů nebo pejska z útulku. 9. Zatančete si Tanec je skvělý způsob, jak z cvičení udělat zábavu. Pokud nepatříte mezi lidi, kterým tanec nic neříká, pozvěte tanec do svého života. Místo toho, abyste si šli po práci sednout do restaurace, zkuste si jít s přáteli zatančit. Vyjít občas z komfortní zóny je nadmíru zdravé - nejen pro vaše tělo. Pokud tanec berete jako něco, co zrovna nechcete sdílet s ostatními, zkuste si zatančit doma. Můžete si osvěžit, co jste se naučili v tanečních, a vyzvat k tanci svého partnera. Nebo si z tance třeba udělejte dynamickou meditaci a zkuste na vše zapomenout a co nejvíce se do tance uvolnit. Tanec je efektivní aerobní cvičení a zároveň má teurapetický účinek na naše zdraví. Věříme, že stojí za zkoušku zkusit začlenit více tance do života. 10. Jak cvičit doma? U televize Sledování filmů a seriálů nemusí být jen lenivou zábavou. I tuto pasivní aktivitu můžete pozměnit tím, že si protáhnete záda z celodenního sezení, nebo si lehce zacvičíte. Opět je to spíše o zvyku a o tom, že se nám tyto zvyky nechce měnit. Zkuste vyjít z toho, co děláte pořád, a experimentujte. Ne proto, že musíte, ale pro sebe a pro své zdraví. Nemusíte si předsevzít, že u televize budete jen posilovat a pak přijdete o celý film. Pokud ale přijde reklama nebo přestávka, zkuste ji využít tak jako přestávku v práci. 11. Společný čas s rodinou a přáteli využijte aktivně Zkuste místo prosezeného večera využít společný čas pro aktivní hry, sport, procházku proloženou protahováním a cvičení Fantazii se meze nekladou. S rodinou Vytvořte seznam aktivních her, které můžete začít hrát pokaždé, když vám vaše dítě řekne: “Já se nudím. Co budeme dělat?” Můžete z domácích prací vytvořit hravou soutěž. Na papír napište jednotlivé úkony, nechte každého člena po večeři vytáhnout jednu kartu a soutěžte o body a odměny. Zkuste změnit rodinnou rutinu na něco neobvyklého. Zajděte si zaskákat na trampolíny, zařádit si do lunaparku, zaplavat si, zajezdit si na kole nebo si udělat doma taneční soutěž… S přáteli Místo “na jedno” můžete jít s kamarádem “na jednu” hru fotbalu, volejbalu, squashe, lezení, bruslení… Místo večera s vínem a tučnými pochutinami si s kamarádkou zajděte na fitness, jógu nebo taneční lekci. Místo skupinové večeře si po práci můžete jít s přáteli zaběhat a měřit si svůj výkon, vyzkoušet nový druh sportu, který jste ještě nikdy nedělali, nebo si udělat delší procházku v přírodě. Náš poslední tip pro více pohybu Není zas tak těžké najít příležitosti k více pohybu každý den. Co však může být obtížné je změnit své návyky, mít větší motivaci se hýbat nebo cítit, že máte dostatek energie. Pokud jste stále unavení, možná by stálo za to pozastavit se nad tím, zda si dopřáváte kvalitní spánek, stravu či zda dostatečně pečujete o své mentální zdraví. Pohyb a sport nás aktivuje, vyživuje a probouzí do života. Má pozitivní vliv na naše zdraví, náladu a je dlouhodobou prevencí řady onemocnění. Přejete si být v obraze a dostávat více tipů pro vaše zdraví? Sledujte náš Macromo Insider! Doporučení Pokud si přejete se více hýbat každý den, zkuste si z toho udělat cvičení a v průběhu svého dne hledejte příležitosti k protažení se, procházce či změně programu ve vaší běžné denní rutině. Vytyčte si jako cíl, že se chcete začít více hýbat, a v průběhu dne si jej připomínejte. Jako motivace pro více pohybu vám může posloužit připomenout si všechny jeho výhody, přínosy a pozitivní vliv na vaše tělo, mysl i ducha.

### Imunoterapie

- URL: https://macromo.com/cs/blog/medications/imunoterapie
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Imunoterapie Tyto léky využívají přirozenou obranyschopnost imunitního systému v boji proti nemocem, včetně rakoviny a autoimunitních poruch. Stimulací nebo potlačením imunitních reakcí se snaží obnovit schopnost těla rozpoznat a eliminovat škodlivé buňky. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Eliglustat Isofluran Siponimod Takrolimus Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Hematologické léky

- URL: https://macromo.com/cs/blog/medications/hematologicke-leky
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Hematologické léky Přípravky k léčbě onemocnění souvisejících s krví, jako je anémie, poruchy srážlivosti krve a rakovina krve. Patří mezi ně léky na ředění krve, náhrady srážecích faktorů a látky stimulující erytropoézu. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Acenokumarol Azathioprin Merkaptopurin Methylenová modř Fenprokumon Thioguanin Vitamin K Warfarin Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Gynekologické léky

- URL: https://macromo.com/cs/blog/medications/gynekologicke-leky
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Gynekologické léky Řada léků zaměřených na reprodukční zdraví žen, například hormonální antikoncepce, léčba neplodnosti a léky na zvládání příznaků menopauzy. Jejich cílem je udržet hormonální rovnováhu a podpořit reprodukční zdraví. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Hormonální antikoncepce pro systémové použití Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Gastroenterologické léky

- URL: https://macromo.com/cs/blog/medications/gastroenterologicke-leky
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Gastroenterologické léky Léky, které jsou určeny k léčbě gastrointestinálních potíží, včetně refluxu, zánětlivých střevních onemocnění a syndromu dráždivého tračníku. Účinkují tak, že snižují zánět, regulují žaludeční kyselinu nebo mění pohyblivost střev. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Kyselina aminosalicylová Dexlansoprazol Lansoprazol Omeprazol Pantoprazol Sulfasalazin Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Familiární hypercholesterolémie

- URL: https://macromo.com/cs/blog/diseases-risks/familiarni-hypercholesterolemie
- Published: 2023-09-06
- Category: diseases-risks
- Language: Czech
- Author: Anna Fiserova

Přehled Familiární hypercholesterolemie (FH) je nejčastější autozomálně dominantní genetické onemocnění na světě. Je jednou z mnoha dyslipidemií, skupiny metabolických onemocnění charakterizovaných abnormálními plazmatickými hladinami lipidů nebo lipoproteinů, a to buď v důsledku zvýšené syntézy, nebo nedostatečné degradace. Pro pochopení celé problematiky je důležité nejprve zopakovat některé základní informace: Lipidy a steroidní látky (cholesterol) nejsou dobře rozpustné ve vodním prostředí - jsou tedy vázány na lipoproteiny, které lze rozlišit podle jejich různé hustoty. Odtud pocházejí jejich typické názvy, které možná znáte - lipoproteiny s velmi nízkou hustotou (VLDL), lipoproteiny s nízkou hustotou (LDL) nebo lipoproteiny s vysokou hustotou (HDL). Každý z lipoproteinů má jiné vlastnosti a účinky. Lipoprotein o nízké hustotě (LDL), často označovaný jako "zlý lipoprotein", se může přeměnit z VLDL nebo může být syntetizován de novo. Okysličená (použitá) forma LDL je vysoce patogenní, především kvůli své aterogenitě (způsobuje aterogenezi - hromadění látek ve vnitřní stěně cév, což způsobuje jejich progresivní obstrukci vedoucí např. k infarktu myokardu). U familiární hypercholesterolemie způsobuje mutace LDL receptorů nedostatečnou degradaci LDL, což vede k hromadění daného lipoproteinu v krvi. Bez adekvátní léčby se LDL ukládá ve tkáních a může urychlit aterosklerózu, což vede k předčasnému koronárnímu onemocnění srdce. Výskyt a rizikové faktory Homozygotní pacienti jsou vzácní a jejich prevalence je odhadována na 1:300 000 až 1:400 000. Heterozygotní familiární hypercholesterolemie má prevalenci 1:300 v Evropě a 1:200 až 1:250 ve Spojených státech. Familiární hypercholesterolemie bohužel do dnešního dne představuje často nediagnostikované onemocnění, které z toho důvodu není ani adekvátně léčeno. Vzhledem k tomu, že onemocnění je založeno na genetickém podkladu, je největším rizikovým faktorem pozitivní rodinná anamnéza. U některých etnik, jako jsou aškenázští Židé, francouzští Kanaďané, Finové, Libanonci nebo Nizozemci, je statisticky více případů familiární hypercholesterolemie. Genetika Familiární hypercholesterolemie (FH) je nejčastější autozomálně dominantní monogenně dědičné onemocnění na světě. Monogenní dědičnost je druh dědičnosti, kdy je znak/nemoc podmíněna expresí jediného genu nebo alely (specifického typu genu). Autosomální popisuje, že problém se vyskytuje v rámci nepohlavních chromozomů. Dominantní znamená, že k účinku mutace je zapotřebí pouze jedna její kopie (alela předaná pouze od jednoho rodiče). Všechny tyto charakteristiky vedou k jedinému - existují dva typy pacientů s familiární hypercholesterolemií: heterozygoti (ti, kteří mají pouze jednu kopii mutace) a homozygoti (ti, kteří mají obě kopie mutace, tedy mutaci od obou rodičů). Pacienti se dvěma patogenními mutacemi jsou nemocí postiženi závažněji než pacienti s jednou patogenní mutací. Pacienti s FH mají obvykle defekt na 19. chromozomu v jednom ze tří genů - v genu pro LDL receptor (apoB/E receptor), PCSK9 nebo v genu pro apolipoprotein B. Mutace LDL receptoru je zdaleka nejčastější (přibližně 90%). Známky a projevy onemocnění Klinické příznaky jsou vzácné a kardiovaskulární komplikace mohou být často prvním příznakem familiární hypercholesterolemie. Lze pozorovat obecné příznaky vyššího cholesterolu, jako např: - Kožní projevy Xantomy = lipidová ložiska v kůži a šlachách Xantelasmata = ložiska lipidů obvykle na horních víčkách - Oční projevy Arcus lipoides cornae = lipidová ložiska tvořící prstence v periferní rohovce - Gastrointestinální projevy Steatóza jater, známá také jako ztukovatění jater - závažný stav, který může vést k selhání jater - Předčasná ateroskleróza a její komplikace Ischemická choroba srdeční = snížení průtoku krve srdečním svalem, které způsobuje příznaky, jako je dušnost, bolest na hrudi nebo pocení, projevující se jako: Stabilní angina pectoris Nestabilní angina pectoris Infarkt myokardu Náhlá srdeční smrt Ateroskleróza mozkového zásobení, periferních tepen a aorty Diagnostika Familiární hypercholesterolemii lze diagnostikovat buď na základě fenotypových kritérií (zvýšená hladina LDL-C, fyzikální vyšetření, osobní a rodinná anamnéza), nebo genetického vyšetření. Genetické testování není pro stanovení diagnózy nezbytné, ale může pomoci při odhadu přesného rizika a stanovení cílů léčby. V posledních několika letech zavedlo mnoho zemí laboratorní vyšetření pupečníkové krve hned po porodu, aby byla zajištěna včasná diagnóza. Krevní testy mohou prokázat: Vysokou hladinu celkového cholesterolu (7-10 mmol/l u heterozygotů, 15-30 mmol/l u homozygotů) Vysokou hladinu LDL cholesterolu (u dospělých více než 4,9 mmol/l, v závažných případech může být vyšší než 13 mmol/l) Normální hladinu triglyceridů Terapie Léčba FH má zásadní význam pro zvládnutí onemocnění a prevenci závažných komplikací. Cílem je snížit LDL-cholesterol alespoň o 50 % oproti hodnotě před léčbou. Důležitou součástí léčby jsou zdravé stravovací návyky a fyzická aktivita, ale FH nelze léčit pouze dietou a cvičením. K dosažení cílů terapie je nutná farmakologická léčba (často jako kombinovaná léčba více látek). Možnosti jsou následující: Statiny - léky blokující enzym potřebný při syntéze cholesterolu Ezetimib - lék blokující vstřebávání cholesterolu ve střevě Inhibitory PCSK9 - monoklonální protilátky, které cílí na LDL receptor a zvyšují jeho prostřednictvím degradaci LDL lipoproteinu v játrech Prevence Vzhledem ke genetickému pozadí se bohužel nelze nemoci vyhnout. Pacient může ovlivnit dopad na své zdraví pouze dodržováním diety a léčby - pokud je nemoc včas diagnostikována a správně léčena, mají jedinci s FH vynikající prognózu. Prognóza Jak již bylo zmíněno, pacienti s FH mají vyšší riziko srdečních onemocnění a úmrtí v mladším věku. Bez diagnózy nebo bez léčby může dojít k srdečnímu infarktu již ve třetí dekádě života a riziko se zvyšuje u vzácnějších a těžších forem onemocnění. Prognóza velmi závisí na tom, jak pečlivě pacient dodržuje léčebný režim - dodržuje dietu, cvičí a užívá léky, které mohou dostatečně snížit hladinu cholesterolu. Doporučení Informujte svého lékaře o výskytu vysokého cholesterolu u vašich rodinných příslušníků Zlepšete svůj zdravotní stav cvičením, dodržováním zdravé stravy a omezením konzumace alkoholu. Pokud vám byla diagnostikována FH, dodržujte doporučení svého praktického lékaře, významně mohou zlepšit prognózu onemocnění.

### "Evropský" původ: zjistěte více o rozmanitých pan-etnických skupinách Evropy

- URL: https://macromo.com/cs/blog/news/evropsky-puvod
- Published: 2023-09-06
- Category: news
- Language: Czech
- Author: Valeria Dragomir

Jihoevropané Jak už název napovídá, do této skupiny patří lidé pocházející z jižní Evropy, obvykle ti, kteří mají svůj původ (částečně nebo zcela) v Itálii, Španělsku, Portugalsku nebo Řecku. Skupina může zahrnovat i širší geografické území, například obyvatele středomořských ostrovů, Kypřany a Malťany. Jihoevropané jsou považováni za nejmenší ze všech Evropanů (zejména Portugalci a Jihoitalové). Obvykle mají tmavší odstín pleti a také tmavší barvu vlasů a očí [1]. Mnoho Středomořských Evropanů má také širší nosní můstek s převislou špičkou. Z kulturního hlediska mají Jihoevropané tendenci udržovat užší rodinné vazby, které trvají i v dospělosti, a přiklánějí se k tradicím. Severovýchodní Evropané Skupina severovýchodní Evropy obvykle označuje obyvatele Finska a Pobaltí nebo všechny, kteří pocházejí z jedné nebo více zemí tohoto regionu. Tato skupina se často vyznačuje popelavě světlými vlasy, malýma modrýma očima a malým kulatým nosem, jehož většina hmoty se soustřeďuje kolem nosních dírek, nikoliv u nosního můstku [2]. Severovýchodní Evropané jsou také známí tím, že jsou vyšší než jejich jižní protějšky. Z kulturního hlediska je tato skupina proslulá přímostí a zdvořilostí zároveň a často se řadí mezi nejvzdělanější a nejodolnější obyvatele Evropy. Západní a severní Evropané Západní a severní Evropané zahrnují velké množství populací, například skandinávské (dánské, norské, švédské, islandské), britské a irské, francouzské, belgické, nizozemské a německé. Proto můžete být považováni za Severoevropana nebo Západoevropana, pokud máte předky v některé ze zemí této zeměpisné oblasti. Přestože lidé z této oblasti mají některé společné fyzické rysy, například jsou poměrně vysocí, existují mezi Západoevropany a Severoevropany některé významné rozdíly. Skandinávci jsou známí svým "světlým vzhledem", bledou pletí a světlými vlasy, úzkým, rovným nosem a špičatou bradou. Naproti tomu většina Němců má hranaté tvary obličeje s výraznými čelistmi [3]. Francouzi zase mají ve srovnání s ostatními západoevropskými sousedy spíše oříškové oči a nižší postavu [4]. Z kulturního hlediska má každá ze západoevropských a severoevropských zemí svůj vlastní soubor odlišných rysů, ale společně jsou známé tím, že si váží kulturní rozmanitosti, mají tendenci být otevřené a jsou ve srovnání se svými jižními protějšky více individualistické [5]. Východoevropané Východoevropané jsou velkou skupinou, kterou tvoří lidé převážně slovanského nebo balkánského původu. Složitá historie tohoto regionu však přispěla k vyššímu počtu lidí se smíšenými předky. Většina Východoevropanů má poměrně podobné rysy obličeje, jako jsou vysoké lícní kosti, hluboké mandlové oči a kulaté obličeje. Důležitou roli při určování některých tělesných rysů hraje geografie: zatímco lidé slovanského původu sdílejí společné rysy spíše se severními populacemi (například světlou pleť a světlé vlasy), balkánské obyvatelstvo, které se nachází v jihovýchodní Evropě, má spíše tmavší rysy a olivovou pleť a podobá se spíše svým jihoevropským sousedům. Východoevropské populace jsou rozmanité i v kulturním smyslu; lze je však běžně označit za středně až vysoce individualistické, cílevědomé, a přesto tradiční [6]. Doporučení Zjištění vašeho původu vám může prozradit mnoho o vaší rodinné historii: od společných fyzických znaků až po podobné vzorce chování - prostřednictvím DNA se můžete dozvědět více o svém původu. A co je nejdůležitější, může odhalit některá genetická onemocnění, která jsou pro určitou etnickou skupinu jedinečná nebo běžná, a jako takovým by se jim dalo předcházet včasným zásahem a změnou životního stylu. Nechte si udělat test DNA a zjistěte více o svých předcích a původu své rodiny. V dnešní době si můžete vybrat z mnoha možností.

### DNA test mi pomohl odhalit vysoký krevní tlak a nastartovat zdravější životní styl

- URL: https://macromo.com/cs/blog/news/dna-test-mi-pomohl-odhalit-vysoky-krevni-tlak-a-nastartovat-zdravejsi-zivotni-styl
- Published: 2023-09-06
- Category: news
- Language: Czech
- Author: Viktoria Konigova

Martin, podnikatel, 46 let test Macromo DNA Premium Můj život byl v poslední době velmi hektický a plný stresu. Pracoval jsem mnoho hodin denně, a to mi v kombinaci s nezdravou stravou a nedostatkem pohybu způsobovalo různé zdravotní problémy. Někdy jsem se cítil unavený a bez energie, jindy jsem měl problémy s trávením. Byl jsem si vědom toho, že musím něco udělat pro to, abych se cítil lépe a byl v kondici, ale nebyl jsem si jistý kde začít. Kamarád mi doporučil vyzkoušet DNA test od společnosti Macromo. Byl jsem zpočátku skeptický. Vím, že mnoho lidí má obavy z toho, co se můžou o sobě dozvědět, ale osobně si myslím, že je lepší o potenciálních problémech vědět dříve, než je odhalit pozdě. Rozhodl jsem se tedy objednat si test a po pár dnech mi dorazil balíček s testovací sadou. Použití testu bylo velmi jednoduché. Odebral jsem si vzorek slin, který jsem poté odeslal zpět do laboratoře a čekal jsem na výsledky. Když mi dorazily výsledky, byl jsem až překvapený, kolik jsem se toho o sobě dozvěděl. Zjistil jsem, že mám větší náchylnost k některým nemocem, ale zároveň jsem se dozvěděl, jaké jsou mé silné stránky, které mi pomohou při řešení problémů. Test odhalil, že mám vysokou genetickou predispozici ke kardiovaskulárním onemocněním, konkrétně mám zvýšené riziko ischemické choroby srdeční . Takové zjištění přirozeně nebylo úplně příjemné, ale potěšilo mě, že jsem v aplikaci rovnou dostal i doporučení, co můžu dělat pro to, abych toto riziko minimalizoval. Začal jsem se více zajímat o prevenci a zdravý životní styl. V aplikaci jsem dostal doporučení, abych omezil příjem soli a cukru, aby se snížila zátěž na mé srdce. Zároveň abych pravidelně cvičil a vyhnul se stresu, který může mít negativní dopad na mé zdraví. Na doporučení aplikace jsem se také rozhodl navštívit svého lékaře a poradit se s ním ohledně dalších kroků, které můžu udělat pro prevenci srdečních chorob. Lékař mě vyšetřil a zjistil, že mám zvýšený krevní tlak. Předepsal mi léky a doporučil mi několik změn v mém životním stylu, abych si krevní tlak snížil. Změny se týkaly mé stravy, pohybu a stresu a potěšilo mě, že se shodovaly s informacemi, které jsem získal v aplikaci Macromo. Začal jsem tedy změny postupně implementovat do svého života. Začal jsem s menšími kroky, jako je omezení soli a cukru v mé stravě, a postupně jsem se dostal ke zdravějšímu jídelníčku, bohatému na ovoce a zeleninu. Svou stravu jsem také doplnil o hořčík. Z DNA testu jsem se dozvěděl, že mám zvýšenou potřebu tohoto minerálu, který je důležitý pro normální funkci svalů a nervů a jeho nedostatek může také zvyšovat riziko srdečních chorob. Kromě toho mi test ukázal, že mám nadprůměrnou vytrvalostní kapacitu, což mi pomohlo najít sportovní aktivity, které se mi líbí a v nichž se mohu vyřádit. Díky tomu jsem začal pravidelně běhat a s potěšením jsem zjistil, že si při běhu příjemně vyčistím hlavu a opadne ze mě hodně stresu. Při všem tom jsem si uvědomil, že změna životního stylu není jednoduchá a vyžaduje trpělivost a vůli. Byl jsem rád, že jsem měl výsledky z DNA testu, které mi poskytly motivaci pro zdravý životní styl a přijímání pozitivních změn. Teď se cítím mnohem víc ve formě a jsem vděčný, že jsem se pro tento krok rozhodl. Doporučení Macromo je komplexní nástroj pro personalizovanou prevenci. Většině častých onemocnění lze předejít včasnou prevencí a změnou životního stylu. Naše doporučení jsou tvořena každému na míru podle získaných dat a jsou k dispozici přehledně v aplikaci Macromo. Doporučení, která se v aplikaci zobrazí, jsou vytvářena ve spolupráci s odborníky a týkají se stravy, pohybu, spánku, duševního zdraví i preventivních vyšetření.

### DNA test jako nástroj moderní personalizované prevence

- URL: https://macromo.com/cs/blog/news/dna-test-jako-nastroj-moderni-personalizovane-prevence
- Published: 2023-09-06
- Category: news
- Language: Czech
- Author: Viktoria Konigova

Prevence je vždy lepší než léčba, zejména pokud jde o naše zdraví, kde nám včasné podchycení nemoci může zachránit život. Například rané odhalení rakoviny může zlepšit výsledky léčby a snížit počet úmrtí až o 30 %. Jak ale můžete předcházet něčemu, o čem ani nevíte, že vám hrozí? Právě zde přichází ke slovu testování DNA - jako nástroj moderní prevence vám nabízí personalizovaný pohled na vaše zdravotní rizika a predispozice. Macromo nabízí testování DNA, které vám pomůže převzít kontrolu nad vaším zdravím. Naše testy identifikují genetické predispozice pro 76 nemocí, vyhodnotí vaše rizika a poskytnou vám personalizovaný návod, jak jim předcházet dříve, než se rozvinou. Pochopení vašich genetických rizik vám umožní podniknout kroky k prevenci onemocnění. "Můj test DNA odhalil vysoké riziko ischemické choroby srdeční. Na základě výsledků jsem dostal doporučení, jak toto riziko minimalizovat, a následně jsem změnil svůj jídelníček a životní styl, včetně snížení příjmu soli a cukru, pravidelného cvičení a zvládání stresu. Poradil jsem se také se svým lékařem a dostal jsem předepsané léky. Díky Macromu jsem získal vhled do možných zdravotních problémů a motivaci k pozitivním změnám pro své zdraví." Martin, 43 let, podnikatel Ptáte se, jak vám může DNA test pomoci se zdravějším životním stylem? Vaše DNA může ovlivnit, jak vaše tělo reaguje na různé druhy potravin, jestli máte sklony k obezitě nebo třeba nižší tolerancí k určitým typům cvičení. Na základě těchto informací vám můžeme poskytnout personalizovaná doporučení týkající se životního stylu, která vám pomohou učinit rozhodnutí optimalizovaná pro vaše zdraví. Jak testování DNA funguje? Je to jednoduché. Náš test analyzuje vaši DNA a identifikuje genetické varianty spojené s celou řadou zdravotních potíží, včetně srdečních onemocnění, rakoviny, cukrovky a dalších. Díky včasnému zjištění vašich predispozic vám můžeme doporučit například vytvoření individuálního plánu prevence, který tyto stavy odhalí dříve, než se stanou závažnějšími. Zároveň můžete podniknout kroky ke snížení rizika vzniku těchto onemocnění a v rámci svého životního stylu se aktivně rozhodovat tak, abyste svá rizika minimalizovali. Věděli jste, že změnou životního stylu lze předejít 58 % případů cukrovky, 80 % případů kardiovaskulárních onemocnění a 50 % všech nádorových onemocnění? Pokud jste připraveni převzít kontrolu nad svým zdravím, testování DNA je skvělým začátkem. Macromo nabízí kvalitní služby testování DNA zaměřené na prevenci. Naše testy se snadno používají a výsledky obdržíte v přehledné aplikaci, kde rovněž najdete personalizovaná doporučení pro váš zdravější životní styl. Tak proč čekat? Zvažte testování DNA pro prevenci ještě dnes a zjistěte více o tom, jak zlepšit své zdraví. Navštivte naše webové stránky, kde si můžete zakoupit test DNA a vstupte do světa moderní prevence. Chci znát své genetické předpoklady! Doporučení Nepodceňujte prevenci! Včasné odhalení nemoci je klíčem k prevenci závažných zdravotních problémů a testování DNA může pomoci identifikovat genetická zdravotní rizika. Změna životního stylu může mít významný vliv na vaše zdraví. Úpravou stravy, pohybových aktivit a technik zvládání stresu můžete snížit riziko vzniku různých zdravotních potíží, včetně cukrovky, kardiovaskulárních onemocnění a rakoviny. Personalizované testování DNA vám pomůže získat přehled o vašich zdravotních rizicích, činit informovaná rozhodnutí a motivovat vás k pozitivním změnám životního stylu.

### Dilatační kardiomyopatie

- URL: https://macromo.com/cs/blog/diseases-risks/dilatacni-kardiomyopatie
- Published: 2023-09-06
- Category: diseases-risks
- Language: Czech
- Author: Hana Voberkova

Přehled Dilatační kardiomyopatie (DCM) je onemocnění srdečního svalu (myokardu). Patří do skupiny nemocí srdce, které jsou definovány strukturálními a funkčními abnormalitami srdečních komor. DCM obvykle začíná v levé srdeční komoře. Komora se s progresí onemocnění víc a víc roztahuje a její stěny se ztenčují až do té míry, že srdce již nedokáže tak účinně pumpovat krev. U některých lidí může být DCM přítomna zcela bez příznaků, ale vzhledem ke své rozmanitosti může představovat i život ohrožující stav. Dilatační kardiomyopatie je častou příčinou srdečního selhání, nepravidelného srdečního rytmu (arytmie), krevních sraženin a náhlé smrti.[2] Dilatační kardiomyopatie vyniká mezi ostatními kardiomyopatiemi rozsáhlým seznamem příčin, které za ní stojí. Mezi běžné příčiny patří infekce a genové mutace, ale existují také DCM spojené s alkoholem, dlouhodobou tachykardií nebo mnoha dalšími onemocněními, jako jsou autoimunitní onemocnění, ischemická choroba srdeční, infarkt, vysoký krevní tlak, diabetes, hemochromatóza, konečné stadium onemocnění ledvin, sarkoidóza, nervosvalová onemocnění atd.[4,5] Podívejte se na nejčastější příčiny v následující tabulce: Výskyt a rizikové faktory Roční incidence DCM se odhaduje na 5 až 8 případů na 100 000 obyvatel, přičemž prevalence je 36 případů na 100 000 obyvatel (pro lepší představu, odhadovaná prevalence v USA je přibližně 1:2500). Tyto údaje však mohou výskyt onemocnění podhodnocovat, protože mnoho pacientů zůstává nediagnostikováno z důvodu neúplného vyjádření nemoci. Člověk je náchylnější k rozvoji dilatační kardiomyopatie v přítomnosti některých rizikových faktorů: Vysoký krevní tlak Osobní anamnéza kardiovaskulárního onemocnění DCM, srdeční selhání nebo náhlá srdeční smrt v rodinné anamnéze Autoimunitní onemocnění, jako je SLE nebo celiakie Endokrinní dysfunkce, jako je dysfunkce štítné žlázy, feochromocytom nebo Cushingův syndrom Hemochromatóza, diabetes nebo sarkoidóza Užívání nelegálních drog Vysoký příjem alkoholu Neléčená tachykardie Genetika Dosavadní genetické studie familiární dilatační kardiomyopatie (FDC) ukázaly, že do patogeneze DCM je zapojeno více než 60 genů. Většina se dědí autozomálně dominantním způsobem, ale byla zaznamenána i autozomálně recesivní, X-vázaná a mitochondriální dědičnost. Přestože bylo doposud identifikováno mnoho genů, odhaduje se, že představují pouze asi polovinu genetických příčin FDC. Z dosud popsaných mutací se nejčastěji vyskytují mutace v genech kódujících strukturální proteiny buňky (např. titin, dystrofin, emerin, sarkomerové proteiny, cytoskelet atd). Známky a projevy onemocnění Podle dosavadních údajů není dilatační kardiomyopatie závislá na věku, nejčastěji se však projevuje mezi 30. a 40. rokem života.[7] S postupujícím onemocněním a snižující se schopností srdce pumpovat krev se může objevit několik specifických příznaků:[7] Únava Slabost Příznaky levostranného srdečního selhání, jako jsou: Námahová a/nebo klidová dušnost (dyspnoe) Kašel Paroxysmální noční dušnost Ortopnoe (dušnost pociťovaná při ležení na zádech) Pokud je postižena i pravá komora, u pacientů se často objevují známky překrvení žilního systému: Otok nohou Hepatosplenomegalie Ascites Kromě již uvedených příznaků jsou někdy popisovány i další, jako je bušení srdce, bolest na hrudi, presynkopa a synkopa. Pokud se tento stav neléčí, může vést k dalším zdravotním problémům. Mezi tyto komplikace patří: Srdeční selhání Nedomykavost srdečních chlopní (zpětný průtok krve jednou z chlopní) Arytmie Náhlá srdeční smrt Krevní sraženiny a tromboembolické příhody Diagnostika Diagnostika dilatační kardiomyopatie a hledání její příčiny je obtížné, ale zároveň nezbytné, protože velká část z široké škály příčin je částečně nebo zcela reverzibilní. Lze přitom použít řadu testů a specifických metod: Rodinná a osobní anamnéza Fyzikální vyšetření lékařem Rozbor krve EKG Echokardiogram Zátěžový test Zobrazovací metody, jako je rentgen hrudníku, CT nebo MRI Srdeční katetrizace Genetický screening Terapie Pokud je objevena příčina DCM, je léčba zaměřená na ni. Za normálních okolností může léčba pomoci zmírnit nebo odstranit příznaky, zlepšit krevní oběh a zabránit dalšímu poškození srdce. V některých případech lze dokonce dosáhnout zpětné remodelace srdeční komory. Obecně se nejčastěji (ale ne vždy) používají následující metody:[2] Prevence Studie naznačují, že dilatační kardiomyopatie je způsobena genetickými mutacemi až u jedné třetiny pacientů. Přestože preventivní opatření nemusí v těchto případech onemocnění zcela zabránit, zdravé životní návyky mohou pomoci předejít komplikacím onemocnění.[2] Pacientům s DCM nebo s vysokým rizikem jejího vzniku se doporučuje:[2] Udržovat si ideální tělesnou hmotnost Pravidelně cvičit dle doporučení lékařem Omezit příjem alkoholu Zanechat kouření a všech nelegálních drog Dodržovat dietu zdravou pro srdce (hodně ovoce a zeleniny, minimální příjem soli, snížení celkového příjmu tuků, zejména nasycených tuků) Omezit psychický stres Dopřát si kvalitní spánek Prognóza Prognóza pacientů se v posledních desetiletích výrazně zlepšila díky rozvoji přístupů v léčbě srdečního selhání. Nicméně předchozí studie ukázaly, že po 60. roce věku je DCM druhou nejčastější příčinou transplantace srdce hned po ischemické chorobě srdeční (DCM představuje příčinu 39% všech transplantací srdce) Zdá se, že prognóza pacientů závisí na mnoha faktorech, jako jsou: Možnost reverzní remodelace srdečních oddílů Závažnost příznaků srdečního selhání Stupeň fibrózy myokardu Přítomnost významných komplikací onemocnění, jako je fibrilace síní nebo tromboembolie I přes velký pokrok v léčbě zůstává srdeční selhání hlavní příčinou úmrtí pacientů s dilatační kardiomyopatií.[9] Doporučení Pokud se u vás v rodině vyskytla kardiomyopatie, vždy konzultujte své kardiovaskulární zdraví s lékařem Pokud máte nadváhu, snažte se zhubnout a poté si udržet ideální tělesnou hmotnost. I malé snížení hmotnosti může být prospěšné Dodržujte stravu bohatou na ovoce, zeleninu a nízkotučné mléčné výrobky a chudou na maso, sladkosti a rafinované obiloviny Snažte se zvládat stres a vždy kvalitně spát Zanechte kouření a jakýchkoli nelegálních drog Omezte příjem alkoholu na minimum

### Díky DNA testu jsem odhalila příčinu nevolností

- URL: https://macromo.com/cs/blog/news/diky-dna-testu-jsem-odhalila-pricinu-nevolnosti
- Published: 2023-09-06
- Category: news
- Language: Czech
- Author: Viktoria Konigova

Ema, studentka, 24 let test Macromo DNA Premium DNA test jsem si dělala původně spíš ze zvědavosti. Vždycky mě zajímalo, co všechno lze zjistit z genů a jak by to mohlo ovlivnit můj život. Když jsem objevila Macromo a zjistila, že z výsledků testu se můžu dozvědět, jaká mi mohou hrozit zdravotní rizika i jaké mám sportovní předpoklady, rozhodla jsem se to zkusit. Celý proces testování DNA byl velmi jednoduchý a rychlý. Stačilo mi poslat vzorek slin a poté jsem čekala na výsledky. Byla jsem překvapena, jaké informace jsem získala, a jak mi mohou pomoci pochopit mé tělo lépe. Zjistila jsem například, že mám zvýšenou silovou kapacitu a že bych mohla mít nedostatek vitamínu B9. Tyto informace pro mě byly velmi zajímavé, ale asi nejzásadnější výsledek, který jsem získala, se týkal mé reakce na ibuprofen. Již nějakou dobu jsem pociťovala nevysvětlitelné záchvaty nevolnosti, ale nedokázala jsem určit příčinu. Ukázalo se, že moje tělo zpracovává ibuprofen pomaleji než je obvyklé , což může podráždit žaludeční sliznici a vyvolat mé příznaky. Konzultovala jsem své výsledky s doktorkou, která mi doporučila vyhýbat se lékům obsahujícím ibuprofen a další podobné látky. Byla jsem překvapená, protože jsem v minulosti ibuprofen užívala často, když jsem cítila bolesti hlavy nebo svalů. Ale díky těmto informacím jsem pochopila, že můj organismus ho nedokáže úplně zpracovat a způsoboval mi nevolnosti. Nečekala jsem, že právě DNA test by mi mohl pomoci najít řešení tohoto problému, ale od té doby co se ibuprofenu vyhýbám se cítím výrazně lépe. Ve výsledcích mého DNA testu se ukázalo také vysoké riziko vzniku rakoviny plic . Touto nemocí trpěl můj děda, který byl ale zároveň kuřák a proto jsme si nebyli jistí, jestli je v naší rodině skutečně dědičná. Ačkoli já sama jsem nikdy nekouřila, potěšilo mě, že díky mým výsledkům jsou odhodláni se tohoto zlozvyku zbavit i moji blízcí, kteří byli na výsledky mého testu zvědaví a rozhodla jsem se s nimi tato zjištění sdílet. Celkově mě DNA test i doporučení, která jsem dostala v aplikaci, motivovaly se začít více zajímat a starat o své zdraví. Zjistila jsem spoustu hodnotných informací, některé jsem mohla přímo aplikovat do svého životního stylu a některá závažnější zjištění jsem konzultovala s lékařkou. Možnost DNA testování zaujala také spoustu lidí v mém okolí a všem, kdo se o sobě a svém zdraví chce dozvědět více informací mohu Macromo jednoznačně doporučit. Doporučení Macromo je komplexní nástroj pro personalizovanou prevenci. Většině častých onemocnění lze předejít včasnou prevencí a změnou životního stylu. Naše doporučení jsou tvořena každému na míru podle získaných dat a jsou k dispozici přehledně v aplikaci Macromo. Doporučení, která se v aplikaci zobrazí, jsou vytvářena ve spolupráci s odborníky a týkají se stravy, pohybu, spánku, duševního zdraví i preventivních vyšetření.

### Děložní fibroidy

- URL: https://macromo.com/cs/blog/diseases-risks/delozni-fibroidy
- Published: 2023-09-06
- Category: diseases-risks
- Language: Czech
- Author: Yevhenia Rakhmankina

Přehled Děložní fibroidy (také známé jako děložní myomy či leiomyomy) jsou nejčastějšími nádory pánevní oblasti. Jedná se o nerakovinové výrůstky, které mohou růst samostatně či mnohočetně a objevovat se v různých částech dělohy. Během života se s nimi setká mnoho žen, většinou ale nevyvolávají příznaky. V některých případech mohou fibroidy způsobovat abnormální děložní krvácení, pánevní bolesti, bolesti při sexu, časté močení, zácpu, komplikace v těhotenství, atd. Existuje mnoho rizikových faktorů, které ovlivňují růst fibroidů, jako například věk, rasa, genetika, životní styl, dieta a další onemocnění. Diagnóza je stanovena na základě vyšetření pánve a ultrazvuku. Léčba záleží na velikosti fibroidu, jeho lokalitě a na tom, jestli vyvolává nějaké symptomy. K dispozici jsou různé možnosti léčby, včetně léků a různých dalších postupů. Na dalším překladu se pracuje, zatím se můžete podívat na náš anglický článek zde nebo se k němu vrátit později.

### Bronchiektázie

- URL: https://macromo.com/cs/blog/diseases-risks/bronchiektazie
- Published: 2023-09-06
- Category: diseases-risks
- Language: Czech
- Author: Yevhenia Rakhmankina

Přehled Bronchiektázie je onemocnění charakterizované zjizvením a rozšířením průdušek (dýchacích cest vedoucích do plic). To vede k chronickému produktivnímu kašli s hlenovitým sputem a dalším nespecifickým respiračním příznakům. V průběhu onemocnění může také dojít k exacerbaci (zhoršení) příznaků. V minulosti byly identifikovány různé genetické (např. CF, primární ciliární dyskineze) a environmentální (kouření, výpary) příčiny onemocnění. Mezi rizikové faktory pro rozvoj bronchiektázie patří plicní infekce, obstrukce dýchacích cest, imunosuprese, některá systémová a revmatická onemocnění, CHOPN atd. Diagnóza se stanovuje na základě CT nebo rentgenového vyšetření hrudníku. Další vyšetření, která mohou být užitečná, jsou krevní testy, kultivace sputa, bronchoskopie a funkční plicní testy. Bronchiektázii nelze zcela vyléčit, ale lze ji zvládnout pomocí léků (jako jsou antibiotika a mukolytika) nebo speciálních přístrojů. Pokud máte toto onemocnění, doporučuje se přestat kouřit, dodržovat pravidelný a dostatečný pitný režim a nechat se očkovat proti pneumokokovým infekcím a chřipce. Výskyt a rizikové faktory Prevalence bronchiektázie se v Evropě a Severní Americe pohybuje od 67 do 566 případů na 100 000 obyvatelstoupá s věkem a je vyšší u žen. Pro vznik bronchiektázie jsou nutné dva faktory: Lokální infekce nebo zánět Zhoršená drenáž, obstrukce dýchacích cest, nebo porucha obrany pacienta Někdy je příčina neznámá, pak hovoříme o tzv. idiopatické bronchiektázii . Na vzniku onemocnění se podílí řada rizikových faktorů: Věk Pohlaví (častější u žen) Obstrukce dýchacích cest (aspirace cizího tělesa, útlak zvětšenými lymfatickými uzlinami nebo nějakým nádorem, anatomické defekty dýchacích cest) Defektní obranyschopnost hostitele (imunosuprese, hypogamaglobulinémie) Cystická fibróza Revmatická a systémová onemocnění Deficit alfa1-antitrypsinu (autozomálně kodominantní genetické onemocnění, které způsobuje poškození plic a jater) Primární ciliární dyskineze (autozomálně recesivní onemocnění charakterizované chronickými infekcemi dýchacích cest, abnormálně uloženými vnitřními orgány a neplodností) Plicní infekce Alergická bronchopulmonální aspergilóza (ABPA) Kouření CHOPN Genetika Nejčastější dědičnou příčinou bronchiektázie je cystická fibróza - autozomálně recesivní genetické onemocnění, které vede k poškození plic, GIT, ledvin a dalších orgánů. Existují i další autozomálně recesivní a dominantní onemocnění, která mohou způsobovat bronchiektázie, a další geny mohou člověka k rozvoji nemoci předurčovat. Známky a projevy onemocnění Typickým příznakem je chronický produktivní kašel s hlenovitým sputem, který trvá měsíce až roky. Vzácně může být kašel bez sputa, ale s příměsí krve (hemoptýza). Mezi další méně specifické příznaky patří potíže s dýcháním (dušnost), sípání a bolest na hrudi. Lidé postižení bronchiektáziemi mají obvykle tendenci k opakovaným infekcím dýchacích cest, které vyžadují léčbu antibiotiky. Někdy se v průběhu onemocnění může vyskytnout i akutní exacerbace (zhoršení) příznaků. Diagnostika Diagnostika se provádí pomocí rentgenového snímku nebo CT hrudníku (zobrazí se rozšířené a zesílené dýchací cesty). K identifikaci mikrobiálního agens způsobujícího infekci se provádí krevní testy a kultivace sputa. Lékař může také provést bronchoskopii pro zobrazení průdušek zevnitř nebo indikovat pacienta k vyšetření plicních funkcí (např. pomocí spirometrie). Terapie Bronchiektázii nelze zcela vyléčit, ale lze ji zvládnout pomocí léků, speciálních přístrojů nebo jejich kombinací. Léky, které lze použít ke zlepšení stavu, řadíme do dvou skupin. První tvoří antibiotika proti infekcím a druhou pak mukolytika, léky, které pomáhají vykašlávat hlen. Toho lze dosáhnout také pomocí zařízení pro uvolnění dýchacích cest, jako jsou zařízení pro pozitivní výdechový tlak (PEEP) a různá perkusní zařízení. Vylučování hlenu pomáhá i fyzikální terapie, která zahrnuje inhalaci bronchodilatancií (léků na rozšíření průdušek), a následné polohování a dýchání proti odporu. Prevence Existují určité způsoby, jak zabránit vzniku bronchiektázií (pokud se nejedná o geneticky podmíněné onemocnění, jako je CF). Doporučuje se nechat se očkovat proti chřipce a dalším nemocem, které způsobují zápal plic, předcházet jakýmkoli obstrukcím dýchacích cest (zejména u malých dětí, které mohou omylem aspirovat cizí těleso) a vyhýbat se škodlivým výparům či plynům. Je také velmi důležité přestat kouřit. Správná hydratace může zabránit přílišné lepkavosti hlenu a zmírnit příznaky. Prognóza Při správné léčbě je délka života lidí postižených bronchiektáziemi normální. Mohou se objevit některé komplikace, jako CHOPN, plicní krvácení nebo plicní absces. Doporučení Pokud se u vás objeví jakékoli příznaky, kontaktujte svého lékaře Zlepšete své zdraví tím, že přestanete kouřit a vyhnete se škodlivým výparům a plynům Pravidelně se nechte očkovat proti chřipce a dalším nemocem, které způsobují zápal plic

### Beta-blokátory

- URL: https://macromo.com/cs/blog/medications/beta-blokatory
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Beta-blokátory Léčiva, která snižují krevní tlak, srdeční frekvenci a zátěž srdce. Často se předepisují při hypertenzi, angina pectoris, srdečním selhání a arytmiích, a také jako prevence budoucích infarktů. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Metoprolol Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Antivirotika

- URL: https://macromo.com/cs/blog/medications/antivirotika
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Antivirotika Léky určené k boji proti virovým infekcím, které zabraňují replikaci viru nebo blokují průnik viru do hostitelských buněk. Používají se k léčbě nemocí, jako je HIV, hepatitida a chřipka. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Abacavir Atazanavir Ciprofloxacin Efavirenz Norfloxacin Ofloxacin Peginterferon Alfa-2A Peginterferon Alfa-2B Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Antipsychotika

- URL: https://macromo.com/cs/blog/medications/antipsychotika
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Antipsychotika Léky používané k léčbě příznaků psychotických poruch, včetně schizofrenie a bipolární poruchy. Působí tak, že regulují hladinu dopaminu a dalších neurotransmiterů a snižují tak výskyt halucinací, bludů a rozrušení. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Aripiprazole Brexpiprazole Haloperidol Pimozide Quetiapine Risperidone Zuclopenthixol Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Antimykotika

- URL: https://macromo.com/cs/blog/medications/antimykotika
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Antimykotika Přípravky, jejichž cílem je léčba plísňových infekcí, a to buď potlačením růstu plísní, nebo zničením buněčné membrány plísní. Používají se k léčbě obtíží, jako je atletická noha, kvasinkové infekce a systémové plísňové infekce. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Amikacin Flucytosine Gentamicin Kanamycin Paromomycin Streptomycin Tobramycin Voriconazole Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Antiemetika

- URL: https://macromo.com/cs/blog/medications/antiemetika
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Antiemetika Léky, které zabraňují nebo zmírňují nevolnost a zvracení tím, že blokují určité neurotransmitery v mozku. Běžně se předepisují pacientům podstupujícím chemoterapii nebo trpícím nevolností z pohybu. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Ondansetron Tropisetron Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Antidepresiva

- URL: https://macromo.com/cs/blog/medications/antidepresiva
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Antidepresiva Skupina léků, které se používají ke zmírnění příznaků deprese zvýšením hladiny neurotransmiterů, jako je serotonin, v mozku. Mohou také léčit úzkost, obsedantně-kompulzivní poruchu a posttraumatickou stresovou poruchu. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Amitriptylin Citalopram Klomipramin Desipramin Doxepin Escitalopram Fluvoxamin Imipramin Nortriptylin Paroxetin Sertralin Trimipramin Venlafaxin Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Antiarytmika

- URL: https://macromo.com/cs/blog/medications/antiarytmika
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Antiarytmika Léky, které regulují nepravidelný srdeční tep tím, že upravují elektrickou aktivitu srdce. Udržují normální srdeční rytmus a minimalizují riziko komplikací, jako je srdeční selhání a mrtvice. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Flekainid Propafenon Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Aneurysma hrudní aorty

- URL: https://macromo.com/cs/blog/diseases-risks/aneurysma-hrudni-aorty
- Published: 2023-09-06
- Category: diseases-risks
- Language: Czech
- Author: Benjamin Spanyi

Přehled Aneurysma hrudní aorty (TAA) je rozšíření části aorty (hlavní tělní tepny) v oblasti hrudníku. Když aorta opouští srdce, směřuje vzhůru (vzestupná část) a poté mění směr dolů (sestupná část), čímž vytváří tzv. aortální oblouk. TAA se může vyskytnout ve všech těchto částech. V některých případech může dilatace přejít v rupturu nebo vést ke vzniku disekce. K disekci aorty dochází, když proud krve naruší stěnu cévy a vytvoří uvnitř cévní stěny falešné lumen. Dříve se mělo za to, že TAA a aneuryzma břišní aorty (AAA) mají podobnou patogenezi. V současné době se ukazuje, že ačkoli mají tato onemocnění podobné projevy, liší se rizikovými faktory a patofyziologií. U TAA je důležitější genetický vliv, zatímco u AAA hrají důležitější roli konvenční rizikové faktory (kouření, vysoký krevní tlak, diabetes mellitus, mužské pohlaví). Výskyt a rizikové faktory Prevalence aneuryzmat a disekcí hrudní aorty (onemocnění spadající pod tzv. aortopatie ) se odhaduje přibližně na 6 případů na 100 000 Důvodů, proč může vzniknout dilatace hrudní aorty, je více. Nejčastěji je vznik tohoto onemocnění spojován s abnormalitami elastinu a kolagenu - hlavních strukturálních proteinů ve stěně aorty. Existuje řada dědičných syndromů, které riziko vzniku aortopatií zvyšují (viz část Genetika). Mezi rizikové faktory patří také kouření cigaret, vysoký krevní tlak, diabetes mellitus, mužské pohlaví a vyšší věk (většina pacientů je starší 65let).[9] Genetika Genetická složka rizika vzniku aneurysmatu hrudní aorty (a případné disekce) je velmi důležitá. Odhaduje se, že 20% postižených jedinců má příbuzného prvního stupně s dilatovanou částí hrudní aortyU sourozenců je dvakrát častější výskyt TAA, než je tomu u aneuryzmatu břišní aortyGenotypy dědičných aortopatií jsou známy přibližně u 40% případů. Postižené geny obecně spadají do jedné ze 3 kategorií: Geny kódující proteiny pojivové tkáně Geny kódující proteiny hladkého svalstva Geny pro signální dráhu růstového faktoru TGF-beta Familiární aneurysma hrudní aorty může vzniknout buď jako součást některého syndromu (s příznaky i mimo kardiovaskulární systém), nebo jako takzvaná "nesyndromová" TAA. Nejčastějšími syndromy spojenými s TAA jsou Marfanův syndrom, Loeys-Dietzův syndrom a vaskulární varianta Ehler-Danlosova syndromu. Nesyndromové TAA jsou známé jako familiární TAA a TAA spojené s bikuspidální aortální chlopní. Obvykle má aortální chlopeň tři cípy, ale někteří lidé mají pouze dva. To je spojeno se zvýšeným výskytem kardiovaskulárních patologií. Známky a projevy onemocnění Aneuryzma hrudní aorty může být asymptomatické a může být objeveno pouze jako náhodný nález při vyšetření zaměřeném na jiné onemocnění (ultrazvuk, CT, MR). Může se také projevovat nespecifickými příznaky, jako je kašel, chraptivý hlas a bolest na hrudi. Pokud však dojde k disekci aorty, jsou projevy akutní a závažné. Mezi typické příznaky patří náhlá silná bolest na hrudi, která může vyzařovat do zad. Pacienti často popisují pocit trhání na hrudi. To může být doprovázeno ztrátou vědomí, dušností a slabým pulsem. Diagnostika Diagnóza aneurysmatu je často stanovena jako náhodný nález při zobrazovacím vyšetření v rámci rutinního vyšetření. Vzhledem k silné genetické složce onemocnění jsou na vznik aneurysmatu vyšetřováni také příbuzní jedince s potvrzenou diagnózou. Standardní metodou pro popis TAA je echokardiografické vyšetření, tj. ultrazvuk. Ve vývoji jsou nové metody detekce, například specifické biomarkery analyzované z krve pomocí qRT-PCR.[2] Terapie Léčba aneuryzmatu hrudní aorty může být buď konzervativní (tedy odstranění rizikových faktorů, sledování stavu a medikace) nebo chirurgická. Obvykle se v terapii používají beta-blokátory a blokátory receptorů pro angiotenzin II (sartany) a jejich cílem je zpomalit proces dilatace aorty. Chirurgické řešení může být indikováno buď jako preventivní opatření na základě více faktorů (především velikosti dilatace), nebo jako urgentní zákrok. Zákrok lze provést dvěma způsoby - otevřeným břišním přístupem, nebo endovaskulárně. Volba mezi nimi se provádí na základě anatomie pacienta, individuálních rizikových faktorů a osobních preferencí. Prevence Vzhledem k velkému významu genetické složky v patogenezi onemocnění bohužel neexistuje žádná definitivní prevence. Pokud je aortopatie přítomna u příbuzných prvního stupně, doporučuje se provést preventivní screening. Přínosem může být odstranění rizikových faktorů, jako je kouření cigaret, a regulace hladiny tuků v krvi. Nejvýznamnějším léčitelným rizikovým faktorem disekce aorty je vysoký krevní tlak. Prognóza Aneurysma hrudní aorty má tendenci se zvětšovat. Se zvětšující se velikostí roste i riziko prasknutí. Přestože se metody diagnostiky i léčby zlepšují, pětileté přežití u neléčených velkých TAA je přibližně 20%. Pokud dojde k ruptuře, úmrtnost dosahuje 97%. Doporučení Pokud se u vás náhle objeví silná bolest na hrudi nebo nespecifické příznaky na hrudi, vyhledejte lékařskou pomoc Vždy se doporučuje přestat kouřit Kontrola vysokého krevního tlaku je nezbytnou součástí prevence disekce aorty

### Analgetika

- URL: https://macromo.com/cs/blog/medications/analgetika
- Published: 2023-09-06
- Category: medications
- Language: Czech
- Author: Anna Fiserova

Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči. Analgetika Léky proti bolesti, které zabraňují přenosu signálů bolesti v centrální nervové soustavě. Jedná se o širokou škálu léků, od volně prodejných, jako jsou nesteroidní antirevmatika, až po silnější opioidy na předpis pro léčbu silné bolesti. Níže je uveden seznam léků z této skupiny, které jsou součástí testů Macromo DNA Premium a Macromo DNA Platinum. Prosím, vezměte na vědomí, že některé léky mohou být zahrnuty ve více skupinách. Kodein Celekoxib Flurbiprofen Hydrokodon Ibuprofen Lornoxicam Meloxikam Pyroxicam Tenoxicam Tramadol Disclaimer Náš test DNA poskytuje informace o metabolismu léků, které pomáhají lékaři určit nejlepší léčebný plán. Je důležité si uvědomit, že nenahrazuje lékařské doporučení. Neměňte svůj léčebný režim bez konzultace s lékařem, který je nejvíce způsobilý k interpretaci výsledků, aby mohl učinit informované rozhodnutí o vaší zdravotní péči.

### Akné

- URL: https://macromo.com/cs/blog/diseases-risks/akne
- Published: 2022-07-31
- Category: diseases-risks
- Language: Czech
- Author: Luisa Gaspar

Přehled Akné je běžné kožní onemocnění, které se vyznačuje četnými pupínky a mastnou pletí na obličeji, krku a trupu. Vzniká, když se vlasové folikuly ucpou odumřelými kožními buňkami nebo kožním mazem a zanítí se. Akné se častěji vyskytuje u dospívajících v důsledku kožních a hormonálních změn, ke kterým dochází během puberty. Na dalším překladu se pracuje, zatím se můžetepodívat na náš anglický článek zde nebo se k němu vrátit později.