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Single-cell data combined with phenotypes improves variant interpretationWhole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specificity.
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The Cold Atmospheric Plasma Inhibits Cancer Proliferation Through Reducing Glutathione SynthesisCold atmospheric plasma (CAP) is a safe and effective alternative to radiotherapy for cancer treatment. Its anticancer effects are attributed to increased intracellular reactive oxygen species (ROS). Glutathione, a key antioxidant derived from glutamine, is critical for cell proliferation. This study investigated whether CAP-induced ROS elevation results from reduced glutamine-glutathione conversion and elucidates the underlying mechanisms.
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A Multisite Randomized Controlled Trial of Hand Arm Bimanual Intensive Training Including Lower Extremity for Children with Bilateral Cerebral PalsyTo test the efficacy of Hand Arm Bimanual Intensive Therapy Including Lower Extremity (HABIT-ILE) to improve gross motor function, manual ability, goal performance, walking endurance, mobility, and self-care for children with bilateral cerebral palsy.
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An Overview of the Skin Microbiome, the Potential for Pathogen Shift, and Dysbiosis in Common Skin PathologiesRecent interest in the diverse ecosystem of bacteria, fungi, parasites, and viruses that make up the skin microbiome has led to several studies investigating the microbiome in healthy skin and in a variety of dermatological conditions.
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Physical activity behaviors in trans and gender diverse adults: a scoping reviewThere is currently limited data regarding the physical activity behaviors of trans and gender diverse people (including binary and non-binary identities; henceforth trans). The aim of this review was to synthesize the existing literature in this area, with a focus on physical activity behaviors as they relate to health (e.g. health benefits, risks of adverse health outcomes).
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Geospatial mapping of drug-resistant tuberculosis prevalence in Africa at national and sub-national levelso map subnational and local prevalence of drug-resistant tuberculosis (DR-TB) across Africa. We assembled a geolocated dataset from 173 sources across 31 African countries, comprising drug susceptibility test results and covariate data from publicly available databases. We used Bayesian model-based geostatistical framework with multivariate Bayesian logistic regression model to estimate DR-TB prevalence at lower administrative levels.
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Health system and environmental factors affecting global progress towards achieving End TB targets between 2015 and 2020Health system and environmental factors play a significant role in achieving the World Health Organization End Tuberculosis (TB) targets. However, quantitative measures are scarce or non-existent at a global level. We aimed to measure the progress made towards meeting the global End TB milestones from 2015 to 2020 and identify health system and environmental factors contributing to the success.
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Airborne personal protective equipment availability and preparedness in Australian and New Zealand intensive care units: A point prevalence surveyPersonal protective equipment is essential to protect healthcare workers when exposed to aerosol-generating procedures in patients with airborne respiratory pathogens.
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Understanding wellbeing from the perspective of youth with chronic conditions: A group concept mapping approachPromoting wellbeing for youth is a global health priority and young people with chronic conditions demonstrate disproportionately low wellbeing compared to their peers. However, wellbeing is variably defined, and little is understood as to what wellbeing means for this population. The aim of this study was to develop a conceptualisation of wellbeing that is rooted in the perspectives of young people with chronic conditions.
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Session Rating of Perceived Exertion Is a Valid Method to Monitor Intensity of Exercise in Adults with Acute Burn InjuriesMeasuring exercise intensity for safety and to inform prescription in acute burn survivors, is challenging. This study aimed to assess the validity of adult patient end-of-workout rating of session perceived exertion (sRPE); and calculated training load (TL) (sRPE × session duration) as measures of exercise intensity. Secondly, the study aimed to compare clinician and patient perception of exercise effort during physiotherapist-led sessions.