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Research

Reflections on How Tinnitus Impacts the Lives of Children and Adolescents

The aim of this study was to generate a conceptual framework describing which aspects of children and adolescents' lives are affected by chronic tinnitus.

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Peri-operative steroid management in the paediatric population

Patients with adrenal insufficiency are at risk of adrenal crisis, a potentially life-threatening emergency in the peri-operative period due to their attenuated ability to mount a cortisol response.

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Expression of CYP24A1 and other multiple sclerosis risk genes in peripheral blood indicates response to vitamin D in homeostatic and inflammatory conditions

Although genetic and epidemiological evidence indicates vitamin D insufficiency contributes to multiple sclerosis (MS), and serum levels of vitamin D increase on treatment with cholecalciferol, recent metanalyses indicate that this vitamin D form does not ameliorate disease. Genetic variation in genes regulating vitamin D, and regulated by vitamin D, affect MS risk.

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Childhood vaccination coverage in Australia: an equity perspective

This study describes trends in social inequities in first dose measles-mumps-rubella (MMR1) vaccination coverage in Western Australia (WA) and New South Wales (NSW).

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Editorial overview: The physiology of the diseased lung

Alexander Larcombe BScEnv (Hons) PhD Honorary Research Fellow Honorary Research Fellow Associate Professor Alexander Larcombe began work at The Kids

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WALLABY Pilot Survey: The Diversity of Ram Pressure Stripping of the Galactic HI Gas in the Hydra Cluster

This study uses H i image data from the Widefield ASKAP L-band Legacy All-sky Blind surveY (WALLABY) pilot survey with the Australian Square Kilometre Array Pathfinder (ASKAP) telescope, covering the Hydra cluster out to 2.5r 200. We present the projected phase-space distribution of H i-detected galaxies in Hydra, and identify that nearly two-thirds of the galaxies within 1.25r200 may be in the early stages of ram pressure stripping.

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Cannabidiol for at risk for psychosis youth: A randomized controlled trial

No biological treatment has been firmly established for the at-risk stage of psychotic disorder. In this study we aim to test if subthreshold psychotic symptoms can be effectively treated with cannabidiol (CBD), a non-psychoactive compound of the plant Cannabis sativa.

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Toxoplasma gondii, Herpesviridae and long-term risk of transition to first-episode psychosis in an ultra high-risk sample

Ultra high-risk (UHR) criteria were introduced to identify people at imminent risk of developing psychosis. To improve prognostic accuracy, additional clinical and biological risk factors have been researched.

Research

Performance and Practicality of a Rapid Molecular Test for the Diagnosis of Strep A Pharyngitis in a Remote Australian Setting

Over 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 cases

Exome 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.