منابع مشابه
Guidelines for genetic testing of inherited cardiac disorders.
Inherited gene variants have been implicated increasingly in cardiac disorders but the clinical impact of these discoveries has been variable. For some disorders, such as familial hypertrophic cardiomyopathy, long QT syndrome, and familial hypercholesterolaemia, genetic testing has a high yield and has become an integral part of family management. For other disorders, including dilated cardiomy...
متن کاملRecessively inherited coagulation disorders.
Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecu...
متن کاملInherited hyperuricemic disorders.
Inherited hyperuricemic disorders fall into two major classes, metabolic overproduction of purines and renal tubular undersecretion. The aim was to explore both. Methodology was a combination of personal experience and review of relevant literature. The overproduction of hyperuricemias result from deficiency of hypoxanthine-guanine phosphoribosyl transferase, overactivity of phosphoribosylpyrop...
متن کاملInherited platelet disorders.
The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology. In this section of the presentation we will review disorders of the platelet membrane, platelet granule packaging disorders, the ...
متن کاملInherited thrombophilic disorders
Inherited thrombophilia is thought to increase the risk of pregnancy related venous thromboembolism (VTE), including deep vein thrombosis (DVT) and pulmonary embolism (PE). Pregnancy is a hypercoagulable state due to the increased concentration of coagulation factors, decreased natural anticoagulants and fibrinolytic activity1. The pregnant woman is therefore at increased risk for VTE and this ...
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ژورنال
عنوان ژورنال: Circulation Journal
سال: 2014
ISSN: 1346-9843,1347-4820
DOI: 10.1253/circj.cj-14-0182