Abstract:
:With the strides being made in the European, Canadian, and American prospective studies of von Willebrand disease (VWD) genotype and phenotype, genetics is increasingly playing a key role in the classification, understanding, and management of VWD. It is anticipated that as gene sequencing becomes easier and more commonplace and the relationship between genotype and clinical and laboratory phenotype becomes clearer, genetic analysis will assume an increasingly important role in diagnosis, prediction of clinical severity, response to hemostatic agents, and optimal individualized management. This is an evolving field, so the reader is urged to stay tuned as new information becomes available, as it will likely change how individuals with bleeding disorders are managed. The purpose of this article is to review the genetics of inherited bleeding disorders in women, focusing on bleeding manifestations, diagnostic methodologies, and management.
journal_name
Semin Thromb Hemostjournal_title
Seminars in thrombosis and hemostasisauthors
Novelli EM,Ragni MVdoi
10.1055/s-0028-1103362subject
Has Abstractpub_date
2008-09-01 00:00:00pages
509-19issue
6eissn
0094-6176issn
1098-9064journal_volume
34pub_type
杂志文章,评审abstract::Current evidence indicates that prolonged air travel predisposes to venous thrombosis and pulmonary embolism. An effect is seen once travel duration exceeds 6 to 9 hours and becomes obvious in long-haul passengers traveling for 12 or more hours. A recent records linkage study found that increase in thrombosis rate amo...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2005-863810
更新日期:2005-02-01 00:00:00
abstract::Physiologic regulation of fibrinolysis plays an important role in the control of hypercoagulable states and thrombogenesis. Both the hereditary and acquired conditions leading to fibrinolytic deficit result in thrombotic complications leading to arterial and venous occlusive disorders. Several changes in physiologic s...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2007-994940
更新日期:1999-01-01 00:00:00
abstract:BACKGROUND:The normalized dilute Russell viper venom time (DRVVT) ratio provides a robust assay methodology for lupus anticoagulant (LA) detection. OBJECTIVES:We evaluated six normalized DRVVT LA screen and confirm systems for inter-method consistency. Reagents were purchased from Diagnostica Stago, Inc. (Parsippany, ...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章
doi:10.1055/s-0033-1334865
更新日期:2013-04-01 00:00:00
abstract::Low-molecular-weight heparins (LMWHs) are now universally accepted as drugs of choice for postsurgical prophylaxis and treatment of deep vein thrombosis (DVT). Currently, these agents are also being developed for the treatment of various cardiovascular conditions. Because of manufacturing differences, each of the LMWH...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2004-823007
更新日期:2004-02-01 00:00:00
abstract::Patients receiving heparin are at risk of developing heparin-induced thrombocytopenia (HIT). Whereas in HIT I only reversible mild thrombocytopenia occurs within the first days of heparin treatment, HIT II may lead to potentially life-threatening thromboembolic events. Pediatric patients suffering from HIT II have bee...
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
abstract::Clinical and laboratory data of children with von Willebrand disease (VWD) types have been derived from retrospective studies and small case series. This article reports on the clinical and laboratory data of a large pediatric cohort in one single Argentinian center. The biological and clinical responses to desmopress...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章
doi:10.1055/s-0031-1281043
更新日期:2011-07-01 00:00:00
abstract::Anticoagulants are pivotal to achieve circulation in extracorporeal circuits. In this review we discuss several anticoagulants in clinical use or in the preclinical phase. In hemodialysis the low-molecular-weight heparins (LMWHs) appear to be as effective and safe as standard heparin (SH). The main advantages of LMWHs...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2007-996094
更新日期:1997-01-01 00:00:00
abstract::As the understanding of the genetic basis of the inherited thrombophilias has increased over recent years, their routine diagnostic genetic analysis has also matured. This review considers methods used to test for the factor V (F5) Leiden mutation and prothrombin 20210A (F2 c.*97G>A) allele, and analysis of the SERPIN...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0032-1321491
更新日期:2012-09-01 00:00:00
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章
doi:10.1055/s-2007-999016
更新日期:1996-01-01 00:00:00
abstract::Pulmonary embolism (PE) has long been described in children. Nevertheless, most of the algorithms applied to patients within this age range, from diagnosis to therapy, have been adapted from adult protocols. This article reviews the progresses that occurred to PE in children placing them in historical perspective with...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0031-1297168
更新日期:2011-10-01 00:00:00
abstract::Plasma levels of total homocysteine (tHcy), a possible risk factor for vascular disease, are generally lower in women than in men and lower in premenopausal women than in postmenopausal women. This article reviews studies that have investigated associations of hyperhomocysteinemia with risk of vascular disease among w...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2000-8474
更新日期:2000-01-01 00:00:00
abstract::Coagulation factor XII (FXII), formerly known as Hageman factor, is a plasma glycoprotein which exerts a kaleidoscope of biological functions, including the initiation of the intrinsic pathway of blood coagulation, the activation of the kallikrein-kinin system, and the generation of bradykinin and angiotensin. The lar...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0036-1571338
更新日期:2016-09-01 00:00:00
abstract::A series of sulfated bis-lactobionic acid amides was prepared. The compounds comprise highly charged poly-anions of very low molecular weight. Usually, the compounds contain 16 sulfate groups per molecule and are homogeneous, monodisperse substances. The molecular weights range from 2388 to 2514. The compounds were ev...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章
doi:
更新日期:1991-01-01 00:00:00
abstract::The articular problems of patients with hemophilia begin in infancy when minor injuries result in hemarthroses. Early continuous prophylaxis (from cradle to college) is of paramount importance because the immature skeleton is very sensitive to the complications of hemophilia; severe structural deficiencies may develop...
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
abstract::The beta2-glycoprotein I (beta2-GPI) is known for its procoagulant as well as anticoagulant properties. The influence of beta2-GPI on tissue factor (TF) activity was investigated by chromogenic assays for both factor Xa generation and factor VIIa activity. When 1.36 mg/mL beta2-GPI was added to phospholipids prior to ...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章
doi:10.1055/s-2007-995844
更新日期:1998-01-01 00:00:00
abstract::In order to determine whether maternal smoking before or during pregnancy, or both, is associated with a reduced risk for preeclampsia in Japanese subjects, we conducted a case-control study that took other risk factors for preeclampsia into consideration. Seventy-one preeclampsia patients were matched with 142 contro...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章
doi:10.1055/s-2002-36691
更新日期:2002-12-01 00:00:00
abstract::Plasminogen activator inhibitor-1 (PAI-1), a principal inhibitor of fibrinolysis, is induced in thrombotic, fibrotic, and cardiovascular diseases, which in turn primarily afflict the older population. This induction of PAI-1 may play an important role in the pathology of these diseases as PAI-1 can regulate the dissol...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0034-1384635
更新日期:2014-09-01 00:00:00
abstract:UNLABELLED:We present 25-year experience with inhibitors in previously untreated patients (PUPs) with severe hemophilia A in Slovakia, where safe factor VIII (FVIII) concentrates have been used since 1990. A prospective study focused on inhibitor incidence in PUPs was established in 1997. Out of a total 61 PUPs born be...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,多中心研究
doi:10.1055/s-0036-1581107
更新日期:2016-07-01 00:00:00
abstract::In addition to the criteria of the Polycythemia Vera Study Group, positive markers for essential thrombocythemia (ET) include spontaneous BFU-E, splenomegaly, and megakaryocyte morphology in bone marrow smears and biopsy material. The hematologic features of 11 reported cases of ET in childhood showed platelet counts ...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2007-996102
更新日期:1997-01-01 00:00:00
abstract::Coagulation management requires the balancing of different components that contribute to clot formation. These components include the interactions between platelets, procoagulant, anticoagulant, and fibrinolytic factors. The cause of bleeding or thrombotic events is often multifactorial; however, the tests clinicians ...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0030-1265286
更新日期:2010-10-01 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-0030-1262885
更新日期:2010-09-01 00:00:00
abstract::Antithrombin activity should probably be determined in persons with early onset of recurrent thrombosis, especially if a family history is present. The initial screening test should be a heparin cofactor assay optimized to reduce the contribution of heparin cofactor II. If the heparin cofactor assay is low, an antigen...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2007-1002664
更新日期:1990-04-01 00:00:00
abstract::The quiescent vascular system in the adult body represents the imbalanced net outcome of overproduction of endogenous angiogenesis inhibitors and reduced levels of angiogenic factors. While some endogenous inhibitors are expressed under physiological conditions, they can also be generated in association with tumor gro...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2004-822973
更新日期:2004-02-01 00:00:00
abstract::Hemorrhagic complications during therapy with anticoagulant drugs have long been considered as simply and directly related to overdosage. Yet, such adverse events have also been observed in patients correctly anticoagulated, i.e., within the therapeutic range, thus demonstrating that the predictive value of laboratory...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:
更新日期:1996-01-01 00:00:00
abstract::Persons with hematologic malignancies bleed for a variety of reasons, including alterations in platelet function and numbers, clotting factor deficiencies, circulating anticoagulants, and defects in vascular integrity. The management of bleeding begins with a full characterization of the hemostatic defect. Vitamin K d...
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
abstract::The catastrophic variant of the antiphospholipid syndrome (APS) is a condition characterized by multiple vascular occlusive events, usually affecting small vessels and evolving over a short period of time, together with laboratory confirmation of the presence of antiphospholipid antibodies. The pathogenesis of catastr...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0028-1082274
更新日期:2008-04-01 00:00:00
abstract::Plasma-derived factor concentrates are important in the management of von Willebrand disease (VWD). We review the current literature regarding pharmacokinetic studies of von Willebrand factor (VWF) concentrates used to treat VWD. Using additional local experience of a crossover pharmacokinetic (PK) study comparing a c...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2007-1000367
更新日期:2007-11-01 00:00:00
abstract::Acute promyelocytic leukemia (APL), once highly fatal, has emerged as the most curable subtype of acute myeloid leukemia in adults. Cure is now expected in approximately 70 to 90% of patients when treatment includes all- TRANS retinoic acid (ATRA) combined with anthracycline-based chemotherapy. Early mortality most of...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-2007-976168
更新日期:2007-06-01 00:00:00
abstract::Several LMWHs are currently available for commercial use. The development status of each of these products in the area of prophylaxis, therapeutics, and other indications is given in Table 4. Enoxaparin and Fraxiparin appear to be the most developed LMWHs in both the surgical and medical areas. Many well-designed clin...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:
更新日期:1991-01-01 00:00:00
abstract::The survival rate of children with cancer has increased impressively to almost 80% over the last decades as a result of improved diagnostic procedures and multimodal treatment strategies. Therefore, it becomes more and more important to prevent mortality and morbidity of treatment-associated complications, including v...
journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0034-1370795
更新日期:2014-04-01 00:00:00