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Gain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment.
Acta Neuropathol Commun
January 2025
Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College (PUMC) and Chinese Academy of Medical Science (CAMS), Beijing, China.
Mutations in the ANXA11 gene, encoding an RNA-binding protein, have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), but the underlying in vivo mechanisms remain unclear. This study examines the clinical features of ALS patients harboring the ANXA11 hotspot mutation p.P36R, characterized by late-onset motor neuron disease and occasional multi-system involvement.
View Article and Find Full Text PDFInvestigating a caregiver-assisted social skills group programme for primary and early high school-aged children with acquired brain injury or cerebral palsy: protocol for a pilot mixed-methods, two-group randomised trial of PEERS Plus.
BMJ Open
January 2025
Queensland Cerebral Palsy and Rehabilitation Research Centre, The University of Queensland, South Brisbane, Queensland, Australia.
Introduction: Reaching social milestones is an important goal of childhood. Children with acquired brain injury (ABI) and cerebral palsy (CP) frequently experience challenges with social functioning and participation. The Programme for the Education and Enrichment of Relational Skills (PEERS) is a group-based social skills programme for adolescents.
View Article and Find Full Text PDFReliability and reproducibility of systematic reviews informing the 2020-2025 Dietary Guidelines for Americans: a pilot study.
Am J Clin Nutr
January 2025
School of Epidemiology and Public Health, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada; Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Background: Although high-quality nutrition systematic reviews (SRs) are important for clinical decision making, there remains debate on their methodological quality and reporting transparency.
Objectives: The objective of this study was to assess the reliability and reproducibility of a sample of SRs produced by the Nutrition Evidence Systematic Review (NESR) team to inform the 2020-2025 Dietary Guidelines for Americans (DGAs).
Methods: We evaluated a sample of 8 SRs from the DGA dietary patterns subcommittee for methodological quality using the Assessment of Multiple Systematic Reviews 2 (AMSTAR 2) tool and for reporting transparency using the PRISMA 2020 and PRISMA literature search extension (PRISMA-S) checklists.
Background: The evaluation and management of insect sting allergy is a complex core competency taught in Allergy and Immunology fellowship programs. It is unclear if current training on insect allergy is sufficient to meet the needs of the field, and what training barriers exist.
Objective: To investigate the extent of training on stinging insect allergy, and factors currently impacting stinging insect allergy clinical practice through a pilot needs-assessment survey.
Enhancing university students' engagement in studying assistive technology by case-based active learning: a pilot study in Hong Kong.
Disabil Rehabil Assist Technol
January 2025
Department of Biomedical Engineering, The Hong Kong Polytechnic University, Hong Kong SAR, China.
Assistive technology (AT) professionals are in pressing need with nowadays growing aged/disabled population, so as well-designed higher education programs in this field. This study designed and implemented a case-based active learning approach within an undergraduate course related to AT in Hong Kong, and assessed its impact on enhancing student engagement over two academic years. A total of twelve multimedia patient case dossiers on six major physical disabilities were created.
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