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Showing posts from March, 2025

Consanguineous Marriage and Its Association With Genetic Disorders in Saudi Arabia: A Review

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factor von willebrand :: Article Creator Bleeding Disorders Highlighted By Foundation At County Commissioners Jessamyn Butler, an advocate for the Western Pennsylvania Bleeding Disorders Foundation, stands Wednesday March 26, with a proclamation from the Butler County commissioners for Bleeding Disorders Awareness Month, which is March. Eddie Trizzino/Butler Eagle When Jessamyn Butler would get nosebleeds as a child, her mother would tell her the length of the bleed was normal, no matter how long it took for it to stop. It wouldn't be until Butler was 38 years old that she learned that those nosebleeds weren't normal, but a symptom of a bleeding disorder, von Willebrand disease, which affects about 3% of the population. Butler's mother and grandmother died of hemorrhagic strokes which, combined with their own heavy bleeding tendencies, points to them possibly having had von Willebrand disease as well. Now, Butler is an advocate f...

NMC Guidelines For Competency-Based Training Programme For DM Medical Genetics

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bone marrow failure treatment :: Article Creator BLOG: The Role Of Haploidentical Bone Marrow Transplant For Severe Aplastic Anemia March 31, 2025 2 min read Add topic to email alerts Receive an email when new articles are posted on Please provide your email address to receive an email when new articles are posted on . Subscribe We were unable to process your request. Please try again later. If you continue to have this issue please contact customerservice@slackinc.Com. Back to Healio Key takeaways: Prior trials established the role of haploidentical BMT for...

Fig. 1: Phenotypic and dysmorphic features of patient 1 (A and B),...

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genetic testing for muscular dystrophy :: Article Creator What Does It Mean To Be A Carrier Of Duchenne Muscular Dystrophy? Duchenne muscular dystrophy (DMD) is a genetic condition that primarily affects people assigned male at birth. However, due to the condition's X-linked inheritance pattern, only people assigned female at birth can be carriers of DMD. Duchenne muscular dystrophy is a genetic condition that leads to progressive muscle weakness and degeneration. It's caused by mutations in the DMD gene, which carries the instructions for making the protein dystrophin. Approximately 70% to 80% of people with DMD inherit a genetic mutation that causes the condition from a biological parent who is a carrier. In the remaining 20% to 30% of people, the genetic mutation occurs early on during embryonic development and isn't related to genetics. A note on sex and gender At points in this article, we use "female...

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

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native american genetic diseases :: Article Creator What You Should Do If A DNA Test Suggests You're Native American Elizabeth Warren's announcement that she took a DNA test to prove she has a Native American ancestor likely inspired countless people to pursue genetic testing to investigate their own family lore. Yet there's a reason why the Democratic senator's declaration was met with harsh criticism, including from the Cherokee Nation's secretary of state Chuck Hoskin Jr., who said Warren was "undermining tribal interests with her continued claims of tribal heritage." Indeed, there are sensitive, appropriate ways to talk about potentially having Native American ancestors. The Massachusetts lawmaker actually got it right when she made the critical distinction that an ancestral link is not the equivalent of belonging to a Native American community or culture, nor should it entitle people far removed from an ancestor ...

Cytogenetics and the evolution of medical genetics

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kallmann syndrome female :: Article Creator

Fig. 1: Phenotypic and dysmorphic features of patient 1 (A and B),...

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neurofibromatosis chromosome :: Article Creator Inheritance And Genetics Of Neurofibromatosis Type 1 (NF1) Neurofibromatosis type 1 (NF1) is a hereditary disorder caused by an alteration – called a mutation – in the NF1 gene, which is located on chromosome 17. The NF1 gene contains a code of instructions for making a protein called neurofibromin, which is produced in many cells, including nerve cells and specialized cells surrounding nerves (Schwann cells). The neurofibromin protein acts as a tumor suppressor, preventing cells from growing and dividing too rapidly. The NF1 gene mutation leads to the production of a nonfunctional or absent neurofibromin protein that is unable to regulate cell growth and division, resulting in the growth of neurofibromas (skin tumors) along nerves throughout the body. Inherited Mutations All people have two copies of every gene – one copy inherited from each parent. The NF1 gene mutation is dominant, which means th...

NMC Guidelines For Competency-Based Training Programme For DM Medical Genetics

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blood vessels diseases list :: Article Creator Blood Disorders Blood disorder can mean any condition that prevents the blood from doing its job. It includes problems with the red blood cells, white blood cells, blood vessels, platelets, bone marrow, spleen, lymph nodes, and the proteins involved in bleeding and clott Diabetes, Stroke And Other Dangerous Risks Of High Blood Pressure By Namita S KallaMarch 28, 2025 High blood pressure can strain your kidneys. High readings could indicate kidney disease or damage, affecting their ability to filter waste  Kidney problem The readings reflect your heart's ability to pump blood. High blood pressure may indicate an increased risk of heart disease Heart disease Hypertension is a significant risk factor for strokes. High BP can damage blood vessels in the brain, leading to blockages  Stroke risk Blood pressure is a direct indic...