⏩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.⠀...
The Bernard-Soulier syndrome is an inherited bleeding disorder that is due to a deficiency in platelet glycoprotein Ib. Bernard-Soulier platelets fail to agglutinate in response to ristocetin despite normal levels of factor VIII:von Willebrand factor. We report a patient who developed severe ...
Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous Thrombolytic Dystrophy, is an extremely rare inherited blood clotting disorder characterized by giant platelet cells, thrombocytopenia, and prolonged bleeding time. In 1948, Jean-Bernard and Jean-Pierre Soulier described the first male patien...
Bernard-Soulier syndrome answers are found in the Taber's Medical Dictionary powered by Unbound Medicine. Available for iPhone, iPad, Android, and Web.
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...
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...
Objective— The platelet glycoprotein (GP)Ib-V-IX complex is a receptor required for normal hemostasis deficient in the Bernard-Soulier bleeding disorder. To evaluate the consequences of GPIb-V-IX deficiency in thrombosis we generated mouse models of the disease by targeting the GPIbβ subunit.Meth...
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 ...
In 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 and ...
Deficiency of GPIb or GPIX results in Bernard-Soulier syndrome (BSS), a bleeding disorder in which platelets are giant and have multiple functional defects. Whether GPV-deficiency might also cause BSS is unknown as are the roles of GPV in platelet-vWF interaction and thrombin signaling. We ...