Journal of thrombosis and haemostasis : JTH
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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.
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J. Thromb. Haemost. · Aug 2015
Desmopressin treatment improves platelet function under flow in patients with postoperative bleeding.
Patients undergoing major cardiothoracic surgery are subjected to dilution, owing to massive fluid infusion and blood component transfusion. These patients may experience bleeding perioperatively, and are frequently treated with the endothelium-activating agent desmopressin. ⋯ Desmopressin treatment of patients with bleeding complications after cardiothoracic surgery induces the release of high molecular weight VWF multimers, which enhance platelet activation and thrombus formation under flow conditions.