Publications by authors named "Sabine-Marie Castet"
Introduction: Conventional genetic investigation fails to identify the F8 causal variant in 2.5%-10% of haemophilia A (HA) patients with non-severe phenotypes. In these cases, F8 deep intronic variants could be causal.
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- * 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.
Adeno-associated virus (AAV)-mediated gene therapy may provide durable protection from bleeding events and reduce treatment burden for people with hemophilia A (HA). However, pre-existing immunity against AAV may limit transduction efficiency and hence treatment success. Global data on the prevalence of AAV serotypes are limited.
View Article and Find Full Text PDFBackground: Despite a high prevalence of angiodysplasia, no specific guidelines are available for the modalities of endoscopic exploration of gastrointestinal (GI) bleeding in von Willebrand disease (VWD). Whether VWD patients could benefit from video capsule endoscopy (VCE) looking for angiodysplasia eligible to endoscopic treatment or at high risk of bleeding is unknown.
Objectives: To assess the diagnostic efficacy for angiodysplasia and the prognostic value of VCE on top of conventional endoscopy in VWD patients with GI bleeding.
Unlabelled: Essentials No F8 genetic abnormality is detected in about 2% of severe hemophilia A patients. Detection of F8 structural variants remains a challenge. We identified a new F8 rearrangement in a severe hemophilia A patient using nanopore sequencing.
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