Publications by authors named "K Pouymayou"
Article Synopsis
- * Researchers identified multiple FXI deficiency cases with significant gene deletions, including whole gene deletions and specific exon deletions, through techniques like Sanger sequencing and Multiplex Probe Ligation-dependent Assay (MLPA).
- * The findings suggest that a notable 2.9% of patients had gene deletions, indicating that systematic use of MLPA or Next Generation Sequencing (NGS) could improve diagnosis in unsolved FXI cases.
Background: Transfusion of defective platelets could contribute to the inefficiency of platelet transfusion in preventing or stopping bleeding.
Study Design And Methods: This single-center prospective study aimed to determine the prevalence of functional platelet abnormalities in a population of blood donors with a clinical history of bleeding diathesis or with history of hematoma (>4 cm) during blood donation. Donors with positive bleeding screening questionnaire were referred to the reference center for rare platelet diseases at La Timone University Hospital (Marseille) to confirm the bleeding tendency using a more extensive bleeding questionnaire (MCMDMscore) and to assess hemostasis, including a comprehensive platelet analysis.
The CK domain of von Willebrand factor (VWF) is involved in the dimerization of the protein. We identified the homozygous substitution A2801D of the CK domain in two siblings. Patients had low levels of VWF in plasma, abnormal ristocetin-induced binding to platelets and abnormal multimeric pattern with a lack of high molecular weight (HMW) forms and the presence of intervening bands between normal multimers.
View Article and Find Full Text PDFBackground And Objectives: Inherited factor VII (FVII) deficiency is a rare bleeding disorder characterized by a poor relationship between reported FVII clotting activity (FVII:C) and bleeding tendency. Our study was aimed at defining biological parameters that are possibly predictive for bleeding risk in this condition.
Design And Methods: Forty-two FVII-deficient patients (FVII:C <30%) were classified into two opposite clinical groups defined as severe and non-or-mild bleeders.