Abstract:
:Type 2B von Willebrand disease (VWD2B) is a rare, autosomal-dominant inherited bleeding disorder, characterized by an enhanced ristocetin-induced platelet aggregation in platelet-rich plasma and often with variable degree of thrombocytopenia and loss of high-molecular-weight multimers von Willebrand factor (VWF). All these phenomena are caused by a mutant VWF, normally synthesized and assembled by endothelial cells, but with heightened affinity binding to the platelet receptor glycoprotein Ib-α (GpIb-α). When this abnormal VWF is released into the circulation and under specific clinical circumstances, in vivo platelet clumping is observed. Mutations, invariably clustered in exon 28 of the VWF gene encoding for the VWF A1 domain involved in VWF binding to GpIb-α, are responsible for VWD2B phenotype. Clinical and laboratory phenotype appears strongly related to the type of VWF-causative mutations. However, recent evidences suggest that a true platelet defect is also present in this type, with several morphological and functional abnormalities being detected in a subset of VWD2B patients.
journal_name
Semin Thromb Hemostjournal_title
Seminars in thrombosis and hemostasisauthors
Castaman G,Federici ABdoi
10.1055/s-0036-1579638subject
Has Abstractpub_date
2016-07-01 00:00:00pages
478-82issue
5eissn
0094-6176issn
1098-9064journal_volume
42pub_type
杂志文章,评审abstract::Unfractionated heparin and LMMH were substituted with different lipophilic organic compounds. Specifically endpoint attached (LMMH-tyramine and LMMH-tyramine-FITC) and nonspecifically substituted heparins (acylated heparins, and LMMH-biotin and LMMH-cholesterol hemisuccinate) were obtained. The lipophilically substitu...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章
doi:10.1055/s-2007-1001902
更新日期:1994-01-01 00:00:00
abstract::Thrombosis is characterized by the formation of in vivo blood clots that are localized within arterial or venous blood vessels. These thrombi form beyond the need for physiologically healthy hemostatic responses and can lead to significant medical issues for affected individuals. Unfortunately, the existing standard-o...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章
doi:10.1055/s-0039-1697946
更新日期:2020-07-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2007-994958
更新日期:1999-01-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2007-976178
更新日期:2007-06-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2004-825632
更新日期:2004-04-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章
doi:10.1055/s-2007-996046
更新日期:1998-01-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2001-15256
更新日期:2001-06-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0037-1604092
更新日期:2018-03-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章
doi:10.1055/s-0033-1364183
更新日期:2014-03-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2007-996423
更新日期:1999-01-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2002-34072
更新日期:2002-08-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0037-1598062
更新日期:2017-06-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2005-922223
更新日期:2005-11-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2007-1002768
更新日期:1988-04-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2002-35285
更新日期:2002-10-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章
doi:10.1055/s-2007-994967
更新日期:1999-01-01 00:00:00
abstract::The molecular basis for the hereditary type I protein S (PS) deficiency was investigated. DNA sequence analysis of 12 patients with PS deficiency in Japan identified four point mutations and three of them were novel. Nonsense mutations found in two unrelated patients resulted in termination of the PS polypeptide chain...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章
doi:10.1055/s-2001-14075
更新日期:2001-01-01 00:00:00
abstract::There is ample evidence of an increased risk of venous thromboembolism (VTE) in inflammatory bowel disease (IBD). Recent large studies have quantified this risk showing that IBD patients run a 1.5 to 3.6 higher risk of developing VTE than healthy controls. The development of VTE in IBD seems to be multifactorial, resu...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0033-1343886
更新日期:2013-07-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2000-8464
更新日期:2000-01-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2003-44641
更新日期:2003-10-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1055/s-0033-1357506
更新日期:2013-11-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0031-1300948
更新日期:2012-02-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 临床试验,历史文章,杂志文章,随机对照试验
doi:10.1055/s-2007-1002737
更新日期:1989-10-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2007-1004383
更新日期:1985-07-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0031-1281032
更新日期:2011-07-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2004-833474
更新日期:2004-08-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2007-995828
更新日期:1998-01-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0029-1242717
更新日期:2009-10-01 00:00:00
abstract::Rivaroxaban is approved in Europe and the United States for thromboprophylaxis following total joint arthroplasty. As the rate of obesity increases, confirming safety and efficacy in this patient population is paramount. This retrospective chart review assessed the efficacy and safety of rivaroxaban between two body m...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章
doi:10.1055/s-0038-1676319
更新日期:2019-03-01 00:00:00
abstract::Of all the coagulation factor deficiencies, only deficiency of factor XIII (FXIII) and fibrinogen are associated with pregnancy loss. FXIII deficiency and a complete or partial deficiency of fibrinogen are associated with bleeding since childhood, impaired wound repair, and recurrent spontaneous abortions. Both FXIII ...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2003-38832
更新日期:2003-04-01 00:00:00