⏩Bernard-Soulier syndrome (BSS) also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts.⠀...
伯纳德-苏利耶综合征是英文疾病名称Bernard-Soulier syndrome)的中文翻译。又叫巨血小板综合征。患者有中到重度的出血,以皮肤黏膜自发性出血为主,如瘀点、瘀斑、鼻出血、牙龈出血、胃肠道出血、月经过多等征状。 什么样的人应当做伯纳德-苏利耶综合征(Bernard-Soulier syndrome)基因解码? 伯纳德-苏利耶综合征(Bernard...
Bernard-Soulier syndrome (bĕr-năr′sool-yā′) [Jean A. Bernard, Fr. hematologist, 1907-2006; Jean-Pierre Soulier, Fr. hematologist, 1915-2003] An autosomal recessive bleeding disorder marked by an inherited deficiency of a platelet glycoprotein. The platelets are large. Bleeding results ...
plateletIn the present paper, a rare, potentially fatal, inherited disease-Bernard-Soulier syndrome-which is an autosomal recessive disorder of platelet and a deficiency disorder of GP1b-IX-V complex has been reported. This complex in an important in normal megakaryocytopoiesis, platelet turnover ...
Bernard-Soulier syndrome is a rare inherited blood clotting disorder characterized by unusually large, giant platelet cells, thrombocytopenia, and prolonged bleeding time. Due to the rarity of the disease, it may not appear foremost on the clinician's differential. Affected individuals tend to bleed ...
Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts. This syndrome is extremely rare as only ~100 cases...
Does Bernard‐Soulier syndrome protect against thrombotic thrombocytopenic purpura?Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy which is either congenital (Upshaw-Schulman syndrome) due to genetic mutations causing deficient function of ADAMTS-13 (a disintegrin and metalloproteinase...
The platelets from three patients with Bernard-Soulier syndrome have been analyzed by surface-labeling coupled with two-dimensional gel electrophoresis and compared with normals. As well as the previously described absence or deficiency ... KJ Clemetson,JL Mcgregor,E James,... - 《Journal of Clini...
From these findings, the diagnosis of Bernard-Soulier Syndrome was made. Polyacrylamide gel electrophoresis of platelet membrane in this case showed decreased amount of fraction I in the glycoproteins, that is, a deficiency of negatively charged sialic acid. No abnormalities of megakaryocytes in the ...
The molecular abnormality demonstrated in this family provides evidence that defective synthesis of GP Ibα alters the membrane expression of the GP Ib-IX complex and may be responsible for Bernard-Soulier syndrome. 展开 关键词: Medical Sciences Platelet Receptor Thrombosis Bleeding Disorder Platelet ...