Eva Cabrera’s Post

🌐 Navigating MTHFR Mutation for Optimal Heart Health 🌐 In the intricate world of genetics, understanding the MTHFR gene mutation is vital for cardiovascular health professionals and individuals alike. 🧬 Key insights: - MTHFR mutations can lead to higher homocysteine levels, impacting heart health. 🔬 - Effective methylation is essential for regulating blood pressure and clotting factors. 💊 - Methylfolate supplements like MethylPro® can be an effective strategy. 🌿 Staying informed about genetic factors like MTHFR helps in making educated decisions for heart health. Consult with healthcare professionals and consider integrating MethylPro® into your health regimen for targeted support. https://hubs.li/Q02lPSSr0 #HeartHealthAwareness #MTHFRGene #MethylPro #HealthcareProfessionals #CardiovascularCare

Gilbert syndrome is a common, mild liver condition where the liver doesn’t process bilirubin and leads to a slight increase in bilirubin levels in the blood and causes jaundice. This condition is the result of a genetic mutation affecting an enzyme UDP-glucuronosyltransferase (UGT1A1), involved in the glucuronidation step of bilirubin breakdown. Patients generally show an elevated unconjugated bilirubin levels with normal conjugated bilirubin. Learn more about the testing with Medical Database. https://lnkd.in/dDV4-qP3 #medicaldatabase

When science just makes sense! This review article on ER retention and dominant-negative effects on the wild type allele is a smooth read. Current and potential therapeutic interventions for this mechanism are also discussed. Recommended read 📓 Dominant-negative mechanisms and some genetic condition examples: 1. Altered protein trafficking - Hereditary Hemorrhagic Telangiectasia 2. Inactive protein complex formation - Osteogenesis Imperfecta. 3. Competitive binding inhibition - Von Willebrand Disease 4. Protein destabilizing effect 5. Conformational effects - Marfan Syndrome https://lnkd.in/gNQt5d_w

The complex relationships between migraine and stroke are explored, highlighting significant clinical implications for their management and treatment. It is mentioned that migraine shares pathophysiological mechanisms with stroke and increases the predisposition to certain types of stroke, emphasizing the need to understand their interaction for effective management. Additionally, factors such as endothelial dysfunction, genetic predispositions, and hormonal influences are highlighted as key elements linking migraine to stroke risk.

This review examines the genetic and epigenetic regulation of inflammasomes, the intersection of macrophage cholesterol accumulation with inflammasome activation and their roles in atherosclerosis 🔗 https://lnkd.in/dUdarUXJ #AtherosclerosisJournal #ATHJournal

Hi everyone Hope all in good health We reported the second case of 25 year old pregnant woman showing an 1.837 Mb interstitial deletion of the proximal long arm region 17q12 of chromosome 17 which is associated with a clinical diagnosis of Renal Cysts and Diabetes Syndrome and is caused by a loss of the HNF1B gene A deletion is indicated in the software call panel by the presence of a red bar. The deletion is identified by a decrease in the Log2 ratio from zero as seen in the Log2 Ratio panel. The smooth signal copy number panel indicates the exact copy number of each probe. This panel is helpful in identifying mosaicism which is evident when the smooth signal for multiple consecutive probes lies between an integer. The chromosome ideogram in the chromosome panel highlights the position breakpoints on the chromosome where copy number imbalances are present. The red bar in the chromosome panel represents a deletion. Gains would typically be shown as blue bars. #CGH #arrays #prediction #of #congenital #abnormalities #amniocentesis

*A pain-free day is possible with natural solution that protect your body joints* It is a sad fact that years of taking over the counter pain killer with its attendant side effects will not stop that excruciating pain in your joint caused by infection and autoimmune disease This condition causes inflammation in the joint that results in pain. Luckily however, there is 100% natural way to get rid of that long pain. # Support healthy gene signalling # Powerful antioxidants property # Support the formation of healthy cartilage # Support healthy joint #. Contribution to the maintenance of healthy bones.

Haemophilia is a rare condition affecting blood clotting, leading to excessive bleeding and bruising. It is the outcome of a genetic mutation that influences the production of clotting agents in the bloodstream. Research shows that approximately 1 in 5000 male births are affected by haemophilia. Haemophilia is often passed down from parents who are carriers of the altered gene and primarily affects males. In an insightful discussion with healthsite.com, #MetropolisScientificExpert Dr. Smita Hiras Sudke, Chief of Labs (Pune and Rest of Maharashtra), delves into the various types of haemophilia and the diagnostic tests available that aid doctors in effectively guiding treatment paths. 🩺💡 #HaemophiliaAwareness #GeneticDisorders #WorldHaemophiliaDay Dr Kirti Chadha Vishal Wadhwa Kannan A Bhoopendra Singh Rajawat Mohan Menon Dr.Shibani Ramchandran Adarsh Jeyasingh Balakrishnan Dr. Sanjay Gohil Supriya Nair Ashish Sahdev Mehul Pal Singh https://lnkd.in/dR56jQ7w

🔬 Understanding Progeria: A Rare Genetic Disorder 🔬 Progeria, or Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare condition that causes accelerated aging in children due to a mutation in the LMNA gene. 🧬 Key Points: Affects about 1 in 20 million people Symptoms include growth delays, hair loss, and cardiovascular issues Life expectancy averages 13 years 🌟 Current Research: While there’s no cure, advancements in genetic research are paving the way for potential treatments. Awareness and support for this rare condition are crucial. Let's advocate for more research and support those affected by Progeria. #Progeria #GeneticResearch #RareDiseases #Healthcare #MedicalScience #ProgeriaAwareness #GeneticDisorders #ResearchMatters # biobypriti

Cardiomyopathy refers to a group of diseases that affect the heart muscle, leading to dysfunction in its ability to pump blood effectively. These conditions can result in severe complications such as heart failure, arrhythmias (irregular heartbeats), or even sudden cardiac death. Cardiomyopathy is a broad term, and the condition can be caused by various factors, including genetic mutations, other diseases, or environmental factors. https://lnkd.in/gMPRQsWi #BhaloTheko