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Consultation informs strategies for improving the use of functional evidence in variant classificationWhen investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.
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Does exercise in cool water cause a higher risk of hypoglycaemia than in thermoneutral conditions in type 1 diabetes?The aim of this study was to test the hypothesis that exercise in cool water results in a greater decrease in blood glucose concentration than in thermoneutral water or on land in individuals with type 1 diabetes.
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Combination of curcumin or chitosan with photodynamic therapy as an effective alternative therapy for overcoming wound infection associated with multidrug-resistant Acinetobacter baumanniiThe increasing prevalence of multidrug-resistant Acinetobacter baumannii as an opportunistic pathogen in wound infections raises significant concerns due to its antibiotic resistance and biofilm-mediated antibiotic tolerance. This underscores the urgent need to explore an alternative approach to effectively managing wound infections caused by MDR A. baumannii.
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Nationwide spatial dynamics of taeniasis in Thailand: declining prevalence but shifting focus and One Health risk factors across 2008–2014The prevalence of taeniasis in Thailand has decreased over the past six decades. However, it remains a public health concern, particularly in focal areas, especially along the border regions where migration between Thailand and neighboring endemic countries is frequent. Spatial distribution analysis provides a useful method for identifying high-risk areas and implementing targeted integrated control measures. This study aimed to examine the spatial patterns of taeniasis in 2008 and 2014, along with their associated One Health risk factors at the sub-district level.
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Extreme drought and sexual violence against adolescent girls and young women: A multi-country population-based studyDroughts have profound and far-reaching impacts on human health and well-being, but their influence on sexual violence among adolescent girls in low- and middle-income countries (LMICs) is underexamined.This study examines the association between drought and sexual violence against adolescent girls and young women globally, using cross-sectional, nationally representative data from the Violence Against Children and Youth Surveys (VACS) from 2013 and 2019.
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Teaching Kitchens: An innovative program for enhancing self-management skills in adolescents living with type 1 diabetes (T1D) – A feasibility studyAdolescents living with type 1 diabetes (T1D) are faced with unique challenges to nutrition management. The current Perth Children's Hospital (PCH) T1D management model includes individualised education at diagnosis and annual reviews. Currently, no group education is provided to develop self-management skills for healthy meal preparation. Teaching Kitchens offers a skills-based program in food literacy and nutrition. This feasibility study explored if a Teaching Kitchens program at PCH engaged adolescents aged between 13 and 17 years, living with T1D.
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Local therapy with combination TLR agonists stimulates systemic anti-tumor immunity and sensitizes tumors to immune checkpoint blockadeW. Joost Ben Lizeth Rachael Tao Omar Lesterhuis Wylie Orozco Morales Zemek Wang Elaskalani BSc PhD BSc, MSc, PhD BSc (Hons), PhD PhD BSc, MSc, PhD
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Exposure to biodiesel exhaust is less harmful than exposure to mineral diesel exhaust on blood-brain barrier integrity in a murine modelEmerging data suggest that air pollution is a persistent source of neuroinflammation, reactive oxygen species, and neuropathology that contributes to central nervous system disorders. Previous research using animal models has shown that exposure to diesel exhaust causes considerable disruption of the blood-brain barrier, leading to marked neuroinflammation.
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Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorderValid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.
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Are C-reactive protein and procalcitonin safe and useful for antimicrobial stewardship purposes in patients with COVID-19 - A scoping reviewThe primary objectives of this study were to assess the usefulness of C-reactive protein and procalcitonin in the diagnosis of bacterial co-infections in coronavirus disease 2019 (COVID-19) and if their incorporation in antimicrobial stewardship programs is safe and useful, stratified by severity of disease as level of care, intensive care unit (ICU) or non-ICU.