Publications by authors named "Y Huguenin"
Article Synopsis
- Alpha-thalassaemia alleles are common globally, primarily due to large deletions that result in the loss of one or two alpha genes.
- A rarer condition involves the gain of alpha genes, leading to excess alpha-globin chains, which can worsen beta-thalassaemia traits into a non-transfusion-dependent phenotype.
- A young girl was reported with a unique combination of a heterozygous beta-thalassaemia mutation and both a gain of alpha-globin copies and -alpha 3.7 deletion on the same allele, marking a novel case in the literature.
Background: Glanzmann thrombasthenia (GT) is caused by an inherited defect of platelet αβ integrin. Concizumab, a monoclonal antibody specific for tissue factor pathway inhibitor, abolishes its anticoagulant effect.
Objectives: To evaluate the in vitro ability of concizumab to improve hemostasis in GT.
Article Synopsis
- The study aimed to explore how to manage patients with inherited bleeding disorders during oral surgery and assess the link between surgical type and bleeding complications.
- The research analyzed data from 83 patients with various bleeding disorders who underwent different types of oral surgery from 2014 to 2021, revealing that 14.5% experienced bleeding complications, predominantly from osseous surgeries.
- The findings suggest that while bleeding issues occurred, they were manageable; however, a serious case highlights the need for careful preoperative planning to evaluate risks and benefits.
Introduction: In the context of severe unexplained haemorrhage (SH), it is usual to seek haematological evaluation and investigate for an inherited rare bleeding disorder (IRBD). In such circumstances, appropriate screen can discriminate between IRBD and suspected child abuse. Yet, little information is available about the frequency of SH in the population of patients with IRBD.
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