Res Pract Thromb Haemost
February 2024
Background: Despite systematic thromboprophylaxis, 30% of the COVID-19 patients in intensive care units develop thrombosis. This occurrence is associated with a hypofibrinolytic state measured by thromboelastometry when adding tissue plasminogen activator (tPA) to citrated whole blood for a further run for EXTEM (ROTEM).
Objectives: Because hydroxyethyl starches (HESs) affect fibrin polymerization, we have assessed its potential effect on tPA-induced fibrinolysis.
Variant identification underlying inherited dysfibrinogenemia quite exceptionally fails. We report on two dysfibrinogenemia cases whose underlying DNA variant could not be identified by Sanger analysis. These failures result from two distinct mechanisms.
View Article and Find Full Text PDFBackground: Numerous mutations in , or lead to congenital fibrinogen disorders (CFDs), but their epidemiology is not well characterized. The aim of this study was to evaluate the molecular epidemiology of CFD and to develop a genotyping strategy.
Methods: Genetic data from 266 unrelated CFD patients genotyped at our laboratory and from a CFD open access database ( = 1,142) were evaluated.
Objectives: To define the underlying cause of bisalbuminaemia in an individual presenting with spontaneous venous thrombosis.
Method: Plasma was examined by electrospray time-of-flight mass spectrometry (TOF MS) to assess albumin mutations and to quantify variant expression level. Tryptic peptide mapping and DNA sequencing were used to precisely define the mutation.