Bernard-Soulier syndrome: an inherited platelet disorder. Export

@article{citeulike:2155381, abstract = {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 platelet aggregation studies and flow cytometry. The differential diagnosis includes the other inherited giant platelet disorders, as well as von Willebrand disease and immune thrombocytopenia purpura. Treatment is generally supportive with platelet transfusions when absolutely necessary and avoidance of antiplatelet medications. Recombinant activated factor VII and desmopressin have been used in attempts to shorten bleeding times; however, no definitive studies regarding their effectiveness have been reported.}, address = {Department of Pathology and Laboratory Medicine, Loma Linda University Medical Center, 11234 Anderson St, Room 2151, Loma Linda, CA 92354, USA. akpham@ahs.llumc.edu}, author = {Pham, A. and Wang, J.}, citeulike-article-id = {2155381}, citeulike-linkout-0 = {http://view.ncbi.nlm.nih.gov/pubmed/18081445}, citeulike-linkout-1 = {http://www.hubmed.org/display.cgi?uids=18081445}, issn = {1543-2165}, journal = {Arch Pathol Lab Med}, keywords = {aggregation, bernardsoulier, bss, disorders, function, glycoproteins, platelets}, month = {December}, number = {12}, pages = {1834--1836}, posted-at = {2007-12-21 11:58:03}, priority = {2}, title = {Bernard-Soulier syndrome: an inherited platelet disorder.}, url = {http://view.ncbi.nlm.nih.gov/pubmed/18081445}, volume = {131}, year = {2007} }

TY - JOUR ID - citeulike:2155381 L3 - citeulike-article-id:2155381 N2 - 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 platelet aggregation studies and flow cytometry. The differential diagnosis includes the other inherited giant platelet disorders, as well as von Willebrand disease and immune thrombocytopenia purpura. Treatment is generally supportive with platelet transfusions when absolutely necessary and avoidance of antiplatelet medications. Recombinant activated factor VII and desmopressin have been used in attempts to shorten bleeding times; however, no definitive studies regarding their effectiveness have been reported. IS - 12 JF - Arch Pathol Lab Med SN - 1543-2165 AD - Department of Pathology and Laboratory Medicine, Loma Linda University Medical Center, 11234 Anderson St, Room 2151, Loma Linda, CA 92354, USA. akpham@ahs.llumc.edu EP - 1836 TI - Bernard-Soulier syndrome: an inherited platelet disorder. VL - 131 SP - 1834 KW - aggregation KW - bernardsoulier KW - bss KW - disorders KW - function KW - glycoproteins KW - platelets AU - Pham, A AU - Wang, J PY - 2007/12// UR - http://view.ncbi.nlm.nih.gov/pubmed/18081445 ER -