Journal of thrombosis and haemostasis : JTH
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J. Thromb. Haemost. · Sep 2015
ReviewProphylaxis escalation in severe von Willebrand disease: a prospective study from the von Willebrand Disease Prophylaxis Network.
Treatment of mucosal bleeding (epistaxis, gastrointestinal bleeding, and menorrhagia) and joint bleeding remains problematic in clinically severe von Willebrand disease (VWD). Patients are often unresponsive to treatment (e.g. desmopressin or antifibrinolytic therapy) and may require von Willebrand factor (VWF) replacement therapy. There are little data on the use of prophylaxis in VWD, and none have been applied in a prospective, treatment escalation design. ⋯ This is the first prospective study to demonstrate that prophylaxis with VW factor concentrates is highly effective in reducing mucosal and joint bleeding rates in clinically severe VWD.
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J. Thromb. Haemost. · Sep 2015
Preconception venous thromboembolism and placenta-mediated pregnancy complications.
Placenta-mediated complications are leading causes of maternal and fetal morbidity and mortality. We hypothesized that a preconception history of venous thromboembolism (VTE) is associated with increased risk of placenta-mediated pregnancy complications. ⋯ Women with a history of VTE were at increased risk of placenta-mediated complications.
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J. Thromb. Haemost. · Aug 2015
Case ReportsHepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.
Quantitative fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) are rare congenital disorders characterized by low/unmeasurable plasma fibrinogen antigen levels. Their genetic basis is invariably represented by mutations within the fibrinogen genes (FGA, FGB and FGG coding for the Aα, Bβ and γ chains). Currently, only four mutations (p.Gly284Arg, p.Arg375Trp, delGVYYQ 346-350, p.Thr314Pro), all affecting the fibrinogen γ chain, have been reported to cause fibrinogen storage disease (FSD), a disorder characterized by protein aggregation, endoplasmic reticulum retention and hypofibrinogenemia. ⋯ Our work strongly confirms the clustering of mutations causing FSD in the fibrinogen γ chain between residues 284 and 375. Based on an in-depth structural analysis of all FSD-causing mutations and on their resemblance to mutations leading to serpinopathies, we also comment on a possible mechanism explaining fibrinogen polymerization within hepatocytes.
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J. Thromb. Haemost. · Aug 2015
A simple decision rule including D-dimer to reduce the need for computed tomography scanning in patients with suspected pulmonary embolism.
An 'unlikely' clinical decision rule with a negative D-dimer result safely excludes pulmonary embolism (PE) in 30% of presenting patients. We aimed to simplify this diagnostic approach and to increase its efficiency. ⋯ Combining Wells items with the D-dimer test resulted in a simplified decision rule, which reduces the need for CT scanning in patients with suspected PE. A prospective validation is required before it can be implemented in clinical practice.
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J. Thromb. Haemost. · Aug 2015
Risk of venous thrombosis after arthroscopy of the knee: results from a large population-based case-control study.
From the currently available evidence, the risk of venous thrombosis after knee arthroscopy remains unclear. ⋯ We observed a strongly increased risk of venous thrombosis after knee arthroscopy, especially in the first months after the procedure. The risk was particularly high in the presence of other acquired or genetic risk factors, making knee arthroscopy a high-risk intervention in certain individuals.