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Congenital iodine deficiency has been almost eliminated in developed countries through iodine supplementation of food and by newborn screening using a blood test for thyroid function. [5] Treatment consists of lifelong administration of thyroxine (T4). Thyroxine must be dosed as tablets only, even to newborns, as the liquid oral suspensions and ...
Pathognomonic (synonym pathognomic [1]) is a term, often used in medicine, that means "characteristic for a particular disease".A pathognomonic sign is a particular sign whose presence means that a particular disease is present beyond any doubt.
Titin [5] (/ ˈ t aɪ t ɪ n /; also called connectin) is a protein that in humans is encoded by the TTN gene. [ 6 ] [ 7 ] The protein, which is over 1 μm in length, [ 8 ] functions as a molecular spring that is responsible for the passive elasticity of muscle .
Thrombotic thrombocytopenic purpura (TTP) initially presents with a range of symptoms that may include severe thrombocytopenia (platelet count usually < 30,000/mm³), microangiopathic hemolytic anemia (evidenced by schistocytes in the blood smear), and various clinical signs such as petechiae, purpura, neurologic symptoms, myocardial ischemia ...
Myotonic dystrophy (DM) is a genetic condition that is inherited in an autosomal dominant pattern, meaning each child of an affected individual has a 50% chance of inheriting the disease. The mutation involves satellite DNA , which is tandemly repeated sequences of DNA that do not code for a protein.
Thrombocytopenia usually has no symptoms and is picked up on a routine complete blood count. Some individuals with thrombocytopenia may experience external bleeding, such as nosebleeds or bleeding gums. Some women may have heavier or longer periods or breakthrough bleeding.
Hemolytic anemia (also known as haemolytic anaemia) is an anemia due to hemolysis, the abnormal breakdown of red blood cells. A number of different mediating factors can cause this condition; either from within the blood cell itself (intrinsic factors) or outside of the cell (extrinsic factors). [39] Congenital hemolytic anemia: Fanconi anemia ...
Congenital hypofibrinogenemia, an inherited disorder in which blood may not clot normally due to reduced levels of fibrinogen; the disorder may cause abnormal bleeding and thrombosis. [ 1 ] Fibrinogen storage disease , a form of congenital hypofibrinogenemia in which specific hereditary mutations in fibrinogen cause it to accumulate in, and ...