Lancet neurology
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For decades, the hypothesis that brain deposition of the amyloid β protein initiates Alzheimer's disease has dominated research and clinical trials. Targeting amyloid β is starting to produce therapeutic benefit, although whether amyloid-lowering drugs will be widely and meaningfully effective is still unclear. ⋯ This variability suggests that the benefits of lowering amyloid β might depend on how strongly an amyloid pathway is manifest in an individual in relation to other coexisting pathophysiological processes. A new approach to research and treatment, which fully considers the multiple factors that drive cognitive decline, is necessary.
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Most neonatal and infantile-onset epilepsies have presumed genetic aetiologies, and early genetic diagnoses have the potential to inform clinical management and improve outcomes. We therefore aimed to determine the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in this population. ⋯ American Academy of Pediatrics, Boston Children's Hospital Children's Rare Disease Cohorts Initiative, Canadian Institutes of Health Research, Epilepsy Canada, Feiga Bresver Academic Foundation, Great Ormond Street Hospital Charity, Medical Research Council, Murdoch Children's Research Institute, National Institute of Child Health and Human Development, National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, One8 Foundation, Ontario Brain Institute, Robinson Family Initiative for Transformational Research, The Royal Children's Hospital Foundation, University of Toronto McLaughlin Centre.
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Dysphagia is a major complication following an acute stroke that affects the majority of patients. Clinically, dysphagia after stroke is associated with increased risk of aspiration pneumonia, malnutrition, mortality, and other adverse functional outcomes. Pathophysiologically, dysphagia after stroke is caused by disruption of an extensive cortical and subcortical swallowing network. ⋯ Emerging diagnostic procedures, technical innovations in assessment tools, and digitalisation will improve diagnostic accuracy in the future. Advances in the diagnosis of dysphagia after stroke will enable management based on individual patterns of dysfunction and predisposing risk factors for complications. Progess in dysphagia rehabilitation are essential to reduce mortality and improve patients' quality of life after a stroke.