Genetics of bleeding disorders in women.

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 Hemost

authors

Novelli EM,Ragni MV

doi

10.1055/s-0028-1103362

subject

Has Abstract

pub_date

2008-09-01 00:00:00

pages

509-19

issue

6

eissn

0094-6176

issn

1098-9064

journal_volume

34

pub_type

杂志文章,评审
  • Travel, venous thromboembolism, and thrombophilia.

    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

    authors: Gallus AS

    更新日期:2005-02-01 00:00:00

  • Acquired defects of fibrinolysis associated with thrombosis.

    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

    authors: Fareed J,Hoppensteadt DA,Jeske WP,Ahmad S,Bick RL

    更新日期:1999-01-01 00:00:00

  • Comparison of six dilute russell viper venom time lupus anticoagulant screen/confirm assay kits.

    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

    authors: McGlasson DL,Fritsma GA

    更新日期:2013-04-01 00:00:00

  • Differentiation of low-molecular-weight heparins: impact on the future of the management of thrombosis.

    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

    authors: Fareed J,Ma Q,Florian M,Maddineni J,Iqbal O,Hoppensteadt DA,Bick RL

    更新日期:2004-02-01 00:00:00

  • Anticoagulation with recombinant hirudin and danaparoid sodium in pediatric patients.

    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

    authors: Severin T,Zieger B,Sutor AH

    更新日期:2002-10-01 00:00:00

  • Von Willebrand disease in children: diagnosis and management of a pediatric cohort in one single center in Argentina.

    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

    authors: Bonduel M,Frontroth JP,Hepner M,Sciuccati G,Feliu-Torres A,Pieroni G

    更新日期:2011-07-01 00:00:00

  • Anticoagulants and extracorporeal circuits.

    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

    authors: Beijering RJ,ten Cate H,Nurmohamed MT,ten Cate JW

    更新日期:1997-01-01 00:00:00

  • Quality in molecular biology testing for inherited thrombophilia disorders.

    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

    authors: Cooper PC,Goodeve AC,Beauchamp NJ

    更新日期:2012-09-01 00:00:00

  • Protective effects of DX-9065a, an orally active, novel synthesized and selective inhibitor of factor Xa, against thromboplastin-induced experimental disseminated intravascular coagulation in rats.

    abstract::We investigated the protective effects of DX-9065a, an orally active, newly synthesized, and specific inhibitor of factor Xa, against experimental disseminated intravascular coagulation (DIC) in rats. Experimental DIC was induced by a 4 hour sustained infusion of thromboplastin at a dose of 2.5 mg/kg. The rats were or...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章

    doi:10.1055/s-2007-999016

    authors: Yamazaki M,Asakura H,Aoshima K,Saito M,Jokaji H,Uotani C,Kumabashiri I,Morishita E,Ikeda T,Matsuda T

    更新日期:1996-01-01 00:00:00

  • Pulmonary embolism in children.

    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

    authors: Brandão LR,Labarque V,Diab Y,Williams S,Manson DE

    更新日期:2011-10-01 00:00:00

  • Hyperhomocysteinemia and risk of vascular disease in women.

    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

    authors: Verhoef P

    更新日期:2000-01-01 00:00:00

  • Factor XII in Hemostasis and Thrombosis: Active Player or (Innocent) Bystander?

    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

    authors: Danese E,Montagnana M,Lippi G

    更新日期:2016-09-01 00:00:00

  • Biochemical studies on sulfated lactobionic acid amides.

    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:

    authors: Klauser RJ,Meinetsberger E,Raake W

    更新日期:1991-01-01 00:00:00

  • Hemophilia orthopedic management with emphasis on developing countries.

    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

    authors: Rodriguez-Merchan EC,Heim M

    更新日期:2005-11-01 00:00:00

  • The influence of beta2-glycoprotein I on tissue factor activity.

    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

    authors: Ieko M,Yasukouchi T,Sawada KI,Koike T

    更新日期:1998-01-01 00:00:00

  • An association between maternal smoking and preeclampsia in Japanese women.

    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

    authors: Kobashi G,Ohta K,Hata A,Shido K,Yamada H,Fujimoto S,Kondo K

    更新日期:2002-12-01 00:00:00

  • Plasminogen activator inhibitor-1 in aging.

    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

    authors: Yamamoto K,Takeshita K,Saito H

    更新日期:2014-09-01 00:00:00

  • Inhibitors in Severe Hemophilia A: 25-Year Experience in Slovakia.

    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

    authors: Batorova A,Jankovicova D,Morongova A,Bubanska E,Prigancova T,Horakova J,Machyniakova M,Cervenka J,Chandoga J,Böhmer D,Mistrik M

    更新日期:2016-07-01 00:00:00

  • Essential thrombocythemia in childhood.

    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

    authors: Michiels JJ,Van Genderen PJ

    更新日期:1997-01-01 00:00:00

  • Clinical utility of thromboelastography: one size does not fit all.

    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

    authors: Wegner J,Popovsky MA

    更新日期:2010-10-01 00:00:00

  • Anti-factor H autoantibody-associated hemolytic uremic syndrome: review of literature of the autoimmune form of HUS.

    abstract::Non-Shiga toxin-associated hemolytic uremic syndrome (atypical HUS) is a rare form of thrombotic microangiopathy that associates hemolytic anemia, thrombocytopenia, and acute renal failure. The disease has been demonstrated to be linked with a complement alternative pathway dysregulation due to genetic defects but als...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-0030-1262885

    authors: Dragon-Durey MA,Blanc C,Garnier A,Hofer J,Sethi SK,Zimmerhackl LB

    更新日期:2010-09-01 00:00:00

  • Laboratory diagnosis of antithrombin and heparin cofactor II deficiency.

    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

    authors: Tollefsen DM

    更新日期:1990-04-01 00:00:00

  • Angiostatin.

    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

    authors: Cao Y,Xue L

    更新日期:2004-02-01 00:00:00

  • The role of individual risk factors in anticoagulant-associated hemorrhages.

    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:

    authors: Toulemonde F

    更新日期:1996-01-01 00:00:00

  • Management of bleeding complications of hematologic malignancies.

    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

    authors: Green D

    更新日期:2007-06-01 00:00:00

  • Morbidity and mortality in the catastrophic antiphospholipid syndrome: pathophysiology, causes of death, and prognostic factors.

    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

    authors: Espinosa G,Bucciarelli S,Asherson RA,Cervera R

    更新日期:2008-04-01 00:00:00

  • Time to think outside the box? Proposals for a new approach to future pharmacokinetic studies of von Willebrand factor concentrates in people with von Willebrand disease.

    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

    authors: Favaloro EJ,Kershaw G,McLachlan AJ,Lloyd J

    更新日期:2007-11-01 00:00:00

  • The double hazard of thrombophilia and bleeding in acute promyelocytic leukemia.

    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

    authors: Tallman MS,Abutalib SA,Altman JK

    更新日期:2007-06-01 00:00:00

  • Experimental and clinical validation of the prophylactic antithrombotic effects of a low molecular weight heparin (enoxaparin).

    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:

    authors: Fareed J,Walenga JM,Hoppensteadt D,Borris LC,Lassen MR

    更新日期:1991-01-01 00:00:00

  • Supportive care in pediatric cancer: the road to prevention of thrombosis.

    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

    authors: van Ommen CH,Chan AK

    更新日期:2014-04-01 00:00:00