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Microbiomic Analysis on Low Abundant Respiratory Biomass Samples; Improved Recovery of Microbial DNA From Bronchoalveolar Lavage FluidIn recent years the study of the commensal microbiota is driving a remarkable paradigm shift in our understanding of human physiology. However, intrinsic technical difficulties associated with investigating the Microbiomics of some body niches are hampering the development of new knowledge. This is particularly the case when investigating the functional role played by the human microbiota in modulating the physiology of key organ systems. A major hurdle in investigating specific Microbiome communities is linked to low bacterial density and susceptibility to bias caused by environmental contamination.
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Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 MutantsClC-7 is a chloride-proton antiporter of the CLC protein family. In complex with its accessory protein Ostm-1, ClC-7 localizes to lysosomes and to the osteoclasts' ruffled border, where it plays a critical role in acidifying the resorption lacuna during bone resorption. Gene inactivation in mice causes severe osteopetrosis, neurodegeneration, and lysosomal storage disease. Mutations in the human CLCN7 gene are associated with diverse forms of osteopetrosis.
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SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases ProgramThe accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches.
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A Survey of Infectious Diseases and Microbiology Clinicians in Australia and New Zealand About the Management of Staphylococcus aureus BacteremiaSignificant variation in practice, particularly for patients with a severe disease phenotype and antibiotic-resistant profile
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Study protocol for a self-controlled cluster randomised trial of the Alert Program to improve self-regulation and executive function in Australian Aboriginal childrenThis trial is evaluating the effectiveness of an Alert Program school curriculum for improving self-regulation and executive function in children living in remote Australian Aboriginal communities
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Asthma is responsible for considerable global morbidity and health-care costs. Substantial progress was made against key outcomes such as hospital admissions with asthma and mortality in the 1990s and early 2000s, but little improvement has been observedWe aim to provide our view of where we are and where we need to go as a community of clinicians and researchers who tackle the public health problem of asthma.
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Fetal alcohol spectrum disorder and youth justice: a prevalence study among young people sentenced to detention in Western AustraliaThis study of young people in detention in Western Australia, has documented a high prevalence of FASD and severe neurodevelopmental impairment
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The Adolescent Cardio-Renal Intervention Trial (AdDIT): retinal vascular geometry and renal function in adolescents with type 1 diabetesWe examined the hypothesis that elevation in urinary (ACR) in adolescents with type 1 diabetes is associated with RVG phenotypes.
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Influence of fecal collection conditions and 16S rRNA gene sequencing at two centers on human gut microbiota analysisTo optimise fecal sampling for reproducible analysis of the gut microbiome, we compared different methods of sample collection and sequencing of 165 rRNA genes.
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Cohort profile: Pregnancy and childhood epigenetics (PACE) consortiumThe PACE Consortium represents the first steps in the discovery of the role of DNA methylation in health and disease