A case of autoimmune chronic active hepatitis with unusual extrahepatic manifestations is described. The patient exhibited marked thrombocytopenia and platelet aggregation dysfunction and morphological changes suggesting an acquired Bernard Soulier-type syndrome. This has not previously been described in association with chronic active hepatitis. The patient also demonstrated significant titres...

The platelet GPIb-V-IX complex is the receptor for the initial binding of von Willebrand factor (vWF) mediating platelet adhesion. The complex is composed of four membrane-spanning glycoproteins (GP): GPIbalpha, GPIbbeta, GPIX, and GPV. Bernard-Soulier syndrome results from a qualitative or quantitative defect in one or more components of the platelet membrane GPIb-V-IX complex. We describe the...

Here we report the characterization of a mouse model of the Bernard-Soulier syndrome generated by a targeted disruption of the gene encoding the glycoprotein (GP) Ib subunit of the GP Ib-IX complex. Similar to a Bernard-Soulier model generated by disruption of the mouse GP Ib subunit, GP Ib Null mice display macrothrombocytopenia and a severe bleeding phenotype. When examined by transmission el...

Bernard-Soulier syndrome is an inherited platelet disorder, which is transmitted in an autosomal recessive manner. This syndrome is characterized by variable thrombocytopenia and large defective platelets. Bernard-Soulier syndrome often presents early with bleeding symptoms, such as epistaxis, ecchymosis, menometrorrhagia, and gingival or gastrointestinal bleeding. Diagnosis can be confirmed by...

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 approximately 100 cases have been reported in the literature. Clinical manifestations usually include pu...

syndrome platelets whose surface proteins were labelled with lz5I by the lactoperoxidase-catalysed procedure. A specific absence of radioactivity in the glycoprotein-Ib region of the gel may be observed; the other major membrane glycoproteins are normally labelled. Confirmation of the presence of glycoprotein IIIa was provided by Kunicki et al . (1978), who showed that BernardSoulier-syndrome p...

We herein report a case of gastrointestinal bleeding induced by angiodysplasia of the cecum in a case of Bernard-Soulier syndrome with recurrent breast cancer. In spite of endoscopic hemostatic therapy and interventional embolization, she had repeated massive bleeding from the cecal lesion. In addition, she had chronic hepatitis C and progressive liver tumors metastasized from breast cancer, an...

The antibiotic ristocetin only aggregates platelets in the presence of plasma von Willebrand factor. Platelets from patients with Bernard-Soulier syndrome do not aggregate upon addition of ristocetin although, in contrast to von Willebrand's disease, plasma levels of factor VIII complex (factor VIII clotting activity, von Willebrand factor activity, and von Willebrand antigen) are normal. The m...

The 2004 grassroots revolution among French researchers, culminating in the estates general held at the end of the year, highlighted the fact that the research structures in France are in dire need of reform (Curr. Biol. 14, R491–R492, R1031). While the spirit of the 2004 revolt has given way to the more quiet, laborious groundwork of structural change, there is still some disagreement over whi...