منابع مشابه
Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia.
Sitosterolemia is a rare, autosomal recessive disease caused by mutations in the adenosine triphosphate-binding cassette transporter genes ABCG5 or ABCG8 that result in accumulation of xenosterols in the body. Clinical manifestations include tendon xanthomas, premature coronary artery disease, hemolytic anemia, macrothrombocytopenia, and bleeding. Although the effect of sterol accumulation on t...
متن کاملPlatelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of Sitosterolemia Running head: Phytosterols affect platelet structure/function
Blood Research Institute, BloodCenter of Wisconsin, Milwaukee, WI 53226 Dept. of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226 Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, WI 53226 Clement J. Zablocki Veterans Affairs Medical Center, Division of Endocrinology, Metabolism, and Clinical Nutrition, Pharmacology and Cellular Biology The Cardiovascular ...
متن کاملA syndrome of platelet-release abnormality and mild hemophilia.
Two families were studied because of a hemorrhagic tendency. The presumptive diagnosis of von Willebrand’s disease was suggested by low factor VIII levels (7.5%33%), prolonged template Ivy bleeding time (9.5-17 mm), low platelet adhesiveness (0%-8%), normal platelet factor 3, and normal clot retraction. Further studies, however, showed abnormal platelet aggregation with ADP, epinephrine, and co...
متن کاملA platelet abnormality in the Chediak-Higashi syndrome of man.
Platelets from two probands homozygous for the Chediak-Higashi syndrome have approximately 10% of the normal number of serotonin-containing dense bodies as visualized electron microscopically in air-dried whole mounts. Since transport of serotonin across the platelet plasma membrane proceeds at a normal rate, and the few dense bodies present appear to store normal amounts of serotonin, the abse...
متن کاملClinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities.
We describe the clinical, biochemical and molecular genetic features of a Chinese family with sitosterolemia, mainly manifested by hematologic abnormalities. The clinical features of three patients were analyzed. Their plasma sterol levels were measured, and ABCG5 and ABCG8 genes sequenced to search for the causative mutation. The main clinical features of these patients were hemolysis and macr...
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ژورنال
عنوان ژورنال: Japanese Journal of Thrombosis and Hemostasis
سال: 2017
ISSN: 0915-7441,1880-8808
DOI: 10.2491/jjsth.28.55