Background: Individuals harbouring pathogenic variants are at risk for aneurysms/dissections throughout the arterial tree. Based on prior reports of sex differences in thoracic aortic aneurysm/dissection, we investigated the sexual dimorphism for vascular events in variant-harbouring patients.
Methods: We analysed two large pedigrees comprising 84 individuals segregating pathogenic missense variants affecting the same p.
Patient blood management (PBM) encompasses implementing multimodal evidence-based strategies to screen, diagnose, and properly treat anaemia and coagulopathies using goal-directed therapy while minimising bleeding. The aim of PBM is to improve clinical care and patient outcomes while managing patients with potential or ongoing critical anaemia, clinically significant bleeding, and coagulopathies. The focus of PBM is patient-centred rather than transfusion-centred.
View Article and Find Full Text PDFBackground: Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, we aimed to assess the feasibility of prospective measurement of these core outcomes during routine metabolic clinic visits.
Methods: We used existing cohort data abstracted from charts of 124 children diagnosed with MCAD deficiency who participated in a Canadian study which collected data from birth to a maximum of 11 years of age to investigate the frequency of clinic visits and quality of metabolic chart data for selected outcomes.