Germline inactivating mutations of the SLC25A1 gene contribute to various human disorders, including Velocardiofacial (VCFS), DiGeorge (DGS) syndromes and combined D/L-2-hydroxyglutaric aciduria (D/L-2HGA), a severe systemic disease characterized by the accumulation of 2-hydroxyglutaric acid (2HG). The mechanisms by which SLC25A1 loss leads to these syndromes remain largely unclear. Here, we describe a mouse model of SLC25A1 deficiency that mimics human VCFS/DGS and D/L-2HGA.
View Article and Find Full Text PDFBackground: Healthy skin is important for maintaining overall physical and cultural health and wellbeing. However, remote-living Australian Aboriginal children contend with disproportionally high rates of (Strep A) infected impetigo. The SToP Trial was a large stepped-wedge cluster randomised trial of See, Treat, and Prevent (SToP) skin health activities implemented between 2019 and 2022 in the Kimberley region of Western Australia, during which a decrease in impetigo was observed.
View Article and Find Full Text PDFBackground: In Canada, 2 guidelines provide guidance for the management of dyslipidemia. The Patients, Experience, Evidence, Research simplified lipid guidelines, intended for primary care practitioners, and the Canadian Cardiovascular Society guidelines, intended for all practitioners, are based on differing methodologies with distinct priorities and preferences. The disparate approaches may contribute to confusion among family practitioners and their co-managed patients, with the potential for compromised care, differing standards for training in the fundamentals of lipidology, and differing criteria that might be used in practice audits to evaluate quality of care.
View Article and Find Full Text PDFIntroduction: Africa's older population is increasing and this, necessitates the development of interventions to promote healthy ageing. Nutrition is a key determinant of healthy ageing and local contextual evidence is needed to inform nutritional intervention development in Africa. There are already reviews on nutritional status and food insecurity in older adults in Africa.
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