Abstract:
:We describe the case of a 30-year-old woman with homozygous prothrombin G20210A transition and heterozygous FV Leiden mutation and a history of postpartum venous thrombosis. Despite the high thrombotic risk to be assumed in the presence of this combined thrombophilia our patient suffered her first venous thrombotic event only at the age of 29 years during the puerperium of her first pregnancy. This fact supports the concept of venous thrombosis as a multicausal disease, with interaction of genetic and acquired risk factors. The case presented also stresses the importance of performing complete thrombophilia investigation.
journal_name
Hamostaseologiejournal_title
Hamostaseologieauthors
Mengis C,Demarmels Biasiutti Fkeywords:
subject
Has Abstractpub_date
2003-08-01 00:00:00pages
117-20issue
3eissn
0720-9355issn
2567-5761pii
03030117journal_volume
23pub_type
杂志文章相关文献
Hamostaseologie文献大全abstract::Atherosclerosis and its sequelae have a major impact on morbidity and mortality. The rupture of an inflamed atherosclerotic plaque is a crucial event, since it can result in acute thrombotic closure of an arterial vessel, resulting e. g. in myocardial infarction or stroke. Not only detection of early plaque rupture wi...
journal_title:Hamostaseologie
pub_type: 杂志文章,评审
doi:10.5482/HAMO-14-11-0061
更新日期:2015-01-01 00:00:00
abstract:AIM:In children, screening for haemorrhagic disorders is further complicated by the fact that infants and young children with mild disease in many cases most likely will not have a significant history of easy bruising or bleeding making the efficacy of a questionnaire even more questionable. PATIENTS, METHODS:We compa...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:
更新日期:2009-10-01 00:00:00
abstract::Cardiovascular and especially thrombotic diseases remain a major cause of morbidity and mortality worldwide. In past years, significant improvements in understanding disease processes, risk assessment, and prediction of clinical outcome in the field of thrombosis and haemostasis have been made by using large-scale bio...
journal_title:Hamostaseologie
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1677520
更新日期:2019-06-01 00:00:00
abstract::Acquired haemophilia A (AHA) is a rare autoimmune disease caused by antibodies directed against clotting factor VIII. About half of cases are idiopathic, but AHA may also be secondary to autoimmune, dermatologic, or oncologic diseases. In approximately 10% of non-idiopathic cases, the disease occurs after or with the ...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:10.1055/s-0038-1668570
更新日期:2019-02-01 00:00:00
abstract::Vitamin K 2,3-epoxide reductase complex, subunit 1 (VKORC1) is an enzyme essential for the vitamin K cycle. VKORC1 catalyses the reduction of vitamin K 2,3-epoxide to the quinone form of vitamin K and further to vitamin K hydroquinone. The generated vitamin K hydroquinone serves as substrate for the enzyme γ-glutamyl-...
journal_title:Hamostaseologie
pub_type: 杂志文章,评审
doi:
更新日期:2016-11-08 00:00:00
abstract::Several challenges arise from the wide application of molecular genetic analyses, among them the need to introduce rules to evaluate molecular genetic test systems as well as test laboratories. This article specifically addresses laboratories performing molecular genetic tests for diagnosis, prevention and therapy of ...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:
更新日期:2010-05-01 00:00:00
abstract::The translation of fundamental science-based constructs to the preemptive identification and optimal management of individuals with or those at risk for thrombotic disorders of the cardiovascular system has taken a step closer to being realized with the development of molecular technologies that include nucleic acid a...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:
更新日期:2007-12-01 00:00:00
abstract::Recombinant activated factor VII (rFVIIa) is a pro-haemostatic agent that can be used for patients with haemophilia and inhibiting antibodies towards a coagulation factor. Recombinant factor VIIa is, however, increasingly used for several other indications, including patients who experience serious and life-threatenin...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:
更新日期:2009-01-01 00:00:00
abstract:UNLABELLED:Molecular genetic testing for factor VIII (FVIII) mutations is indicated in haemophilia A since determination of FVIII activity cannot reliably identify female carriers. Given the large number of FVIII mutations the identification of novel mutations is not uncommon. Since amino acid polymorphisms of FVIII ar...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:
更新日期:2009-05-01 00:00:00
abstract::Placenta-mediated pregnancy complications are clinically important conditions and include preeclampsia, placental abruption, intrauterine growth restriction, and late fetal loss. Pathophysiology is complex, and may be linked to prothrombotic disorders such as antiphospholipid syndrome, whose understanding is still evo...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:10.1055/a-1184-8388
更新日期:2020-08-01 00:00:00
abstract::Myocardial infarction (MI) shows a strong heritability. For a long time the identification of responsible genes has been rather unsuccessful. However, with the advent of genome wide association studies (GWAS) using DNA-array technology a number of significant loci for MI have been identified which were widely replicat...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:
更新日期:2010-11-01 00:00:00
abstract::When assessing the quality of clinical trials in intermittent claudication, on principle the same strict biometric and medical standards need to be applied for studies on the effect of walking exercise as for conservative drug treatment studies. However, as demonstrated by a recent review of the Cochrane Collaboration...
journal_title:Hamostaseologie
pub_type: 杂志文章,评审
doi:
更新日期:2006-08-01 00:00:00
abstract:UNLABELLED:Secondary arthrosis of the upper ankle joint (talocalcanean joint) is one of the most frequent forms of haemophilic arthropathy. It is a secondary form of arthrosis not only because of chronic synovitis and cartilage injury resulting from chronic recurrent intraarticular bleeds, but also due to the misalignm...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:
更新日期:2009-10-01 00:00:00
abstract:UNLABELLED:Antibodies against annexin-V, a potent anticoagulant abundant in placental tissues, were recently controversially reported to be associated with recurrent miscarriages or failures of in-vitro-fertilization (IVF) attempts. PATIENTS, MATERIAL, METHODS:We screened 56 women (34.7 +/- 4.3 years of age: mean +/- ...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:
更新日期:2005-11-01 00:00:00
abstract::Recombinant interleukin-2 (rIL-2) is indicated for metastatic renal cell carcinoma and melanoma. Over recent years low-dose rIL-2 has been studied for the treatment of autoimmune diseases and acute coronary syndrome because of its ability to expand and activate T regulatory (Treg) cells. However, several medical condi...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:10.1055/a-1120-4064
更新日期:2020-12-01 00:00:00
abstract::Platelet number or function disorders cause a range of bleeding symptoms from mild to severe. Patients with platelet dysfunction but normal platelet number are the most prevalent and typically have mild bleeding symptoms. The study of this group of patients is particularly difficult because of the lack of a gold-stand...
journal_title:Hamostaseologie
pub_type: 杂志文章,评审
doi:
更新日期:2010-01-01 00:00:00
abstract::Von Willebrand factor (VWF) structure-function relationship has been studied only through in vitro approaches. The VWF-deficient mouse model has been extremely useful to examine the in vivo function of VWF but does not allow a more subtle analysis of the relative importance of its different domains. However, consideri...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:
更新日期:2009-01-01 00:00:00
abstract:UNLABELLED:In recent years thrombophilia has gained much attention as a risk factor for pregnancy complications. Whereas there is an established correlation between antiphospholipid-antibodies and pregnancy loss, data for other risk factors of thrombosis are less well established. Data suggest associations with antithr...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:
更新日期:2008-01-01 00:00:00
abstract::Atherosclerosis and its major complications - myocardial infarction and stroke - remain major causes of death and disability in the United States and world-wide. Indeed, with dramatic increases in obesity and diabetes mellitus, the prevalence and public health impact of cardiovascular diseases (CVD) will likely remain...
journal_title:Hamostaseologie
pub_type: 杂志文章,评审
doi:10.5482/HAMO-14-11-0076
更新日期:2016-05-10 00:00:00
abstract::This article reviews the roles of blood platelets in haemostasis as well as in the pathogenesis of thromboembolic diseases. Besides the basic processes in primary haemostasis, platelet adhesion, platelet secretion, platelet aggregation, clot retraction, the new model of thrombin formation on the platelet surface is pr...
journal_title:Hamostaseologie
pub_type: 杂志文章,评审
doi:
更新日期:2008-12-01 00:00:00
abstract::Platelet cytoskeletal reorganization is essential for platelet adhesion and thrombus formation in hemostasis and thrombosis. The Rho GTPases RhoA, Rac1 and Cdc42 are the main players in cytoskeletal dynamics of platelets responsible for the formation of filopodia and lamellipodia to strongly increase the platelet surf...
journal_title:Hamostaseologie
pub_type: 杂志文章,评审
doi:10.5482/HAMO-14-09-0046
更新日期:2016-08-03 00:00:00
abstract::Patients suffering from haemophilia encounter various phases in life, in which individual needs, life situations, and self- and disease perception change rapidly. One of these phases spans from the beginning of puberty until early adulthood, in which individuals gain self-responsibility and reach independence and auto...
journal_title:Hamostaseologie
pub_type: 杂志文章,评审
doi:10.1055/s-0039-3402804
更新日期:2020-02-01 00:00:00
abstract:UNLABELLED:A protein Z deficiency is presumably related with a threefold risk of venous and arterial thrombosis. Mucosal bleedings and post-operative haematomas can occur more frequently. This is seen in an increased in vivo bleeding time without other plasmatic coagulation disorders or thrombopathies. Pregnancy compli...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:
更新日期:2012-01-01 00:00:00
abstract::In Germany one-third of the women in fertile age use combined oral contraceptives (COCs), which consist mostly of ethinylestradiol (EE) and a synthetic progestin. Older COCs with norethisterone or levonorgestrel have a lower risk for venous thromboembolism (VTE) than newer COCs with desogestrel, drospirenone, or gesto...
journal_title:Hamostaseologie
pub_type: 杂志文章,评审
doi:10.1055/s-0039-1677806
更新日期:2019-02-01 00:00:00
abstract::Low molecular weight heparins and fondaparinux have been the cornerstones for prevention of venous thromboembolism (VTE) in acutely ill medical patients for almost two decades. Guidelines recommend the use of these parenteral anticoagulants for 6 to 14 days but advise against extended-duration thromboprophylaxis after...
journal_title:Hamostaseologie
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1677522
更新日期:2019-02-01 00:00:00
abstract:INTRODUCTION: Regular visits at haemophilia treatment centres (HTCs) in rural regions are often dependent on the access to a private car due to lack of or limited availability of public means. Therefore, a mobile haemophilia outpatient care (MHOC) concept providing home visits to haemophilia patients has been developed...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:10.1055/s-0038-1654721
更新日期:2018-08-01 00:00:00
abstract::A survey is given on the clinical important haemostatic facts and diseases in gynaecology and obstetrics from the viewpoint of the gynecologist and obstetrician. ...
journal_title:Hamostaseologie
pub_type: 杂志文章,评审
doi:10.1267/hämo04040252
更新日期:2004-11-01 00:00:00
abstract::The impact of inherited bleeding disorders on the socioeconomic status (SES) of affected individuals is not clear. The SES of adult patients with congenital bleeding disorders (PWBD) from a centre in Germany (age 42.3 ± 15.0 years) was compared to that of a gender- and age-matched control group of patients with thromb...
journal_title:Hamostaseologie
pub_type: 杂志文章
doi:10.5482/HAMO-16-12-0047
更新日期:2018-08-01 00:00:00
abstract::Vitamin-K-antagonists (VKA) and heparins have been complementary anticoagulants for prevention and treatment of thrombosis for almost 70 years. In contrast to heparins, VKA have not been modified pharmacologically, however treatment surveillance has improved by introducing INR and self-monitoring/management. Disclosur...
journal_title:Hamostaseologie
pub_type: 杂志文章,评审
doi:10.5482/ha-1149
更新日期:2011-02-01 00:00:00
abstract::Activated by calcium and thrombin, factor XIII (FXIIIa) cross-links fibrin, thus increasing the stability of the fibrin clot. Furthermore, the hemostatic and reparative function of factor XIIIa is mediated by cross-linking other proteins like alpha(2)-plasmin-inhibitor, fibronectin, and collagen. The FXIII Val34Leu po...
journal_title:Hamostaseologie
pub_type: 杂志文章,评审
doi:
更新日期:2002-02-01 00:00:00