Clinical medicine (London, England)
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Inherited metabolic disorders (IMDs) are debilitating inherited diseases, with phenotypic, biochemical and genetic heterogeneity, frequently leading to prolonged diagnostic odysseys. Mitochondrial disorders represent one of the most severe classes of IMDs, wherein defects in >350 genes lead to multi-system disease. Diagnostic rates have improved considerably following the adoption of next-generation sequencing (NGS) technologies, but are still far from perfect. ⋯ To test whether phenomic correlations have utility in mitochondrial disease and IMDs, we created a gene-to-phenotype interaction network with searchable elements, for Leigh syndrome, a frequently observed paediatric mitochondrial disorder. The Leigh Map comprises data on 92 genes and 275 phenotypes standardised in human phenotype ontology terms, with 80% predictive accuracy. This commentary highlights the usefulness of the Leigh Map and similar resources and the challenges associated with integrating phenomic technologies into clinical practice.
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Starting with a hypothesis which postulated a simple explanation arising from the basic cause of type 2 diabetes, a series of studies has introduced a paradigm shift in our understanding of the condition. Gradual accumulation of fat in the liver and pancreas leads eventually to beta cell dedifferentiation and loss of specialised function. ⋯ For those people who used to have type 2 diabetes, the state of post-diabetes can be long term provided that weight regain is avoided. The implications for personal health and for national health economics are considerable.
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The introduction of new professional roles to the multidisciplinary team has been heralded as a way to facilitate medical education in the face of increasing service pressures. However, concerns have been raised that the training of new healthcare professionals will dilute the availability of learning opportunities, thereby detracting from postgraduate medical education. ⋯ A minority of trainees experienced dilution of training opportunities. The findings support the notion that new healthcare professionals do not detract from medical training and suggest that roles such as the physician associate have potential to enhance postgraduate medical education.
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Letter Case Reports
Lesson of the month 1: Prolonged QT syndrome due to donepezil: a reversible cause of falls?
Prolonged QT syndrome precipitates cardiac arrhythmias such as torsades de pointes (TdP) resulting in cardiogenic syncope or sudden death. We report a case of prolonged QT syndrome caused by donepezil which resulted in a fall and hip fracture. ⋯ This case highlights a lesser known side effect of this dementia drug. It also reminds us of the importance of taking a thorough drug history while considering potential drug toxicity/interactions as part of the comprehensive geriatric assessment.