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Performance and Practicality of a Rapid Molecular Test for the Diagnosis of Strep A Pharyngitis in a Remote Australian SettingOver 5 days, 120 schoolchildren from two schools in the remote Kimberley region of Australia were screened for Strep A pharyngitis. Molecular point-of-care testing identified Strep A pharyngitis in 13/18 (72.2%) symptomatic children. The portability and feasibility of molecular point-of-care testing was highly practical for remote settings.
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A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
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Reference exome data for a Northern Brazilian populationExome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.
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Assessing the burden of laboratory-confirmed respiratory syncytial virus infection in a population cohort of Australian children through record linkageRespiratory syncytial virus is pervasive across multiple severity levels and diagnoses. Vaccines targeting children <3 months must be prioritized
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Chronic health conditions, mental health and the school: A narrative reviewSchool-based social risk processes in the lives of young people with chronic health conditions are likely to contribute to risk of psychological problems
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Anaesthesia, pain and recovery profiles in children following dental extractionsThe aim of this prospective cohort study was to describe the anaesthetic practices, rates of postoperative pain and the recovery trajectory of children having urgent dental extractions at our institution.
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Putting ‘Justice’ in Recovery Capital: Yarning about Hopes and Futures with Young People in DetentionWe must celebrate success and hope through a process of mapping and building recovery capital in the justice context at an individual and institutional level
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Long-term economic outcomes for interventions in early childhood: protocol for a systematic reviewInvestment in early childhood produces positive returns: for the child, the family and the community.
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A positive feedback loop between alpha1-adrenoceptors and inflammatory cytokines in keratinocytesOur results suggest that reciprocal influences between alpha1-adrenoceptors and inflammatory cytokines may play a role in normal inflammatory responses
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New genetic predictors for abacavir tolerance in HLA-B*57:01 positive individualsWe investigated immune and non-immune related genes to determine other factors required for the development of Abacavir hypersensitivity syndrome