Familial cerebrovascular accidents due to concomitant hyperhomocysteinemia and protein C deficiency type 1.
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چکیده
منابع مشابه
Familial cerebrovascular accidents due to concomitant hyperhomocysteinemia and protein C deficiency type 1.
BACKGROUND AND PURPOSE Hyperhomocysteinemia and protein C deficiency are risk factors for thromboembolism. Hyperhomocysteinemia has been reported to inhibit the expression of thrombomodulin and to inactivate both thrombomodulin and protein C irreversibly, leading to decreased protein C activity. CASE DESCRIPTIONS In a 16-year-old girl, who developed a sinus sagittalis thrombosis, and in her f...
متن کاملIschemic stroke due to protein C deficiency.
Plasma protein C exerts anticoagulatory effects by inactivating factors V and VIII. Hereditary protein C deficiency is transmitted as an autosomal dominant disorder. Homozygous individuals usually develop purpura fulminans as newborns; heterozygous protein C-deficient individuals are at increased risk for venous thrombosis and pulmonary embolism. However, arterial thrombosis has been only rarel...
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Portal vein thrombosis (PVT) is a common cause of portal hypertension in children. A majority of children with PVT of unknown etiology have functional Protein C deficiency or abnormally elevated levels of anti-cardiolipin antibodies. We report an 8 years old Indian girl with portal cavernoma due to hereditary Protein S deficiency. We documented familial deficiency of Protein S in 2 asymptomatic...
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OBJECTIVE Description of the clinical, biochemical and genetic features of a Polish patient with familial glucocorticoid deficiency. METHODS Detailed clinical investigation, hormonal analysis and sequencing of the coding region of the melanocortin 2 receptor (MC2R) gene in this patient. RESULTS We report on a 3-month-old boy with familial glucocorticoid deficiency who presented at the age o...
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Serum cobalamin and homocysteine levels were studied in patients with chronic myelogenous leukemia (CML) and in stem cell donors treated with granulocyte-colony stimulating factor (G-CSF). Cytoreductive treatment in patients with CML resulted in a decrease of cobalamin and homocysteine levels. In stem cell donors cobalamin and homocysteine levels increased after G-CSF administration. The increa...
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ژورنال
عنوان ژورنال: Stroke
سال: 1993
ISSN: 0039-2499,1524-4628
DOI: 10.1161/01.str.24.10.1599