Congenital Hearing Loss

congenital von willebrand's disease :: Article Creator Congenital Von Willebrand - Bing News Figure 1. Figure 1. Biosynthesis and Function of von Willebrand Factor. Von Willebrand's disease is the most common inherited bleeding disorder and has an autosomal inheritance pattern. To help diagnose von Willebrand disease or other bleeding disorders, a doctor will request various blood tests. These tests will measure the presence and activity of certain substances in the blood. Available Stat? No. Description The von Willebrand factor antigen assay is used to diagnose von Willebrand disease as it measures plasma von Willebrand factor concentration. When used in combination ... Congenital thrombotic thrombocytopenic purpura (cTTP) results from a deficiency in ADAMTS13 (A disintegrin and metalloproteinase with thrombospondin motifs 13), a von Willebrand factor (VWF ... VWD is caused by inheritance of abnormal gene that con...

von willebrand disease factor viii :: Article Creator What Do Blood Tests For Von Willebrand Disease Measure? To help diagnose von Willebrand disease or other bleeding disorders, a doctor will request various blood tests. These tests will measure the presence and activity of certain substances in the blood. Von Willebrand disease (VWD) is a blood-clotting disorder. It occurs when a person has insufficient or ineffective supplies of a substance in the blood known as von Willebrand factor (VWF). This is a protein that plays an important role in the process of forming a blood clot. Typically, after an injury where bleeding occurs, VWF in the blood attaches to small blood cells known as platelets. This helps the platelets stick together and form a clot at the site of injury to stop bleeding. However, with ineffective or low levels of VWF, the clot may take longer to form or form incorrectly. This may result in a person experiencing excessive b...

mosaic genetic disorder :: Article Creator Mechanisms And Consequences Of Somatic Mosaicism In Humans Gottlieb, B., Beitel, L. K. & Trifiro, M. A. Somatic mosaicism and variable expressivity. Trends Genet. 17, 79–82 (2001). Article  CAS  PubMed  Google Scholar  Wallace, D. C. & Lott, M. In Principles and Practice of Medical Genetics 4th Edn (eds Rimoin, D. L., Connor, J. M., Pyeritz, R. E. & Korf, B. R.) 299–409 (Churchill Livingstone, Edinburgh, 2002). Google Scholar  Hall, J. G. Twinning: mechanisms and genetic implications. Curr. Opin. Genet. Dev. 6, 343–347 (1996). Article  CAS  PubMed  Google Scholar  Boveri, T. The Origin of Malignant Tumors (Williams & Wilkins, Baltimore, Maryland, 1929).A timeless classic on somatic mutations and the pathogenesis of cancer. Google Scholar  Jackson, A. L. & Loeb, L. A. The mutation rate and cancer. Gen...

thrombocytopenia brain bleed :: Article Creator Thrombocytopenia (Low Platelet Count) Thrombocytopenia is the condition when you don't have enough platelets in your blood. Platelets are small blood cells that clot your blood after you get any cut or scrape that bleeds or a bigger injury.These cells stick together, which stops bleeding. You need platelets for your blood to clot. When your platelet counts are low, you may be at risk for bleeding.(Photo credit: Skypixel/Dreamstime) If you're wondering what the long name means, here's how it breaks down: "Thrombocytes" is another name for your platelets, and "penia" means you don't have enough of something. Put those terms together, and you get "thrombocytopenia." A healthy person usually has a platelet count of 150,000 to 450,000 in every microliter of blood. (A single drop of blood has about 35 microliters.) You have low platelets and thrombo...

glanzmann thrombasthenia treatment :: Article Creator Signs Your PAH Treatment Isn't Working Pulmonary arterial hypertension (PAH) is a form of pulmonary hypertension that causes the small arteries of your lungs to thicken and narrow. This can lead to high blood pressure in your lungs. While there's no cure for PAH, there are many treatment options that can help control your symptoms. It's important to work closely with the doctor to ensure your PAH treatment continues to work. "Treatments range from medication all the way up to transplantation," says Richard N. Channick, MD, a pulmonologist at UCLA. Your treatment plan might include: Vasodilators. Blood vessel dilators, called vasodilators, help relax and open your narrowed blood vessels to help blood flow. Your doctor may give you treatment through an intravenous (IV) infusion, under the skin, as a pill, or through inhalation. With inhalation, you'll breathe in the ...