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Research

When 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.

Research

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.

Research

The 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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Droughts 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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Describe the physiotherapy interventions provided to children with cerebral palsy at risk of respiratory illness and determine criteria for safe in-home treatment.

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Acute rheumatic fever is an autoimmune disorder resulting from Group A Streptococcus pharyngitis or impetigo in children and adolescents, which may evolve to rheumatic heart disease (RHD) with persistent cardiac valve damage. RHD causes substantial mortality and morbidity globally, predominantly among socioeconomically disadvantaged populations, with an interplay of social determinants of health and genetic factors determining overall risk.

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Amidst growing concerns over heightened natural disaster risks, this study pioneers an inquiry into the causal impacts of cyclones on the demand for private health insurance in Australia. We amalgamate a nationally representative longitudinal dataset with historical cyclone records, employing an individual fixed effects model to assess the impacts of various exogenously determined cyclone exposure measures.

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A lack of appropriate care and discrimination in healthcare settings likely compounds the existing risks to mental health and well-being for Aboriginal and Torres Strait Islander lesbian, gay, bisexual, trans, queer/questioning, and asexual (LGBTQA+) young people. The current study contributes findings from Aboriginal LGBTQA+ young people's perspectives on their health service needs and preferences.

Research

The prevalence of child and adolescent breakfast skipping is concerning, and limited existing evidence suggests an association between skipping breakfast and negative emotional wellbeing outcomes. However, positive emotional wellbeing outcomes have been neglected from research in this space.

Research

The overarching goal of the Australian coronavirus disease 2019 (COVID-19) vaccination program has been to protect all people in Australia from the harm caused by the novel coronavirus SARS-CoV-2. This review reflects on the role of the Australian Technical Advisory Group on Immunisation (ATAGI) in the national COVID-19 vaccination program, in terms of the initial programmatic and clinical recommendations in the evolving context of evidence relating to the disease and vaccines, epidemiology, and the program rollout.