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People with Cerebral Palsy and Their Family's Preferences about Genomics ResearchThe goal of this study was to understand individuals with cerebral palsy (CP) and their family's attitudes and preferences to genomic research, including international data sharing and biobanking.
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Microcephaly in Australian infants: A retrospective auditThe aim of this study was to describe clinical characteristics, outcomes and causes of microcephaly in children whose condition was identified within the first year of life.
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Preferred health outcome states following treatment for pulmonary exacerbations of cystic fibrosisTreatment for pulmonary exacerbations of cystic fibrosis (CF) can produce a range of positive and negative outcomes. Understanding which of these outcomes are achievable and desirable to people affected by disease is critical to agreeing to goals of therapy and determining endpoints for trials.
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CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiencyOver 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.
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Protection against neonatal respiratory viral infection via maternal treatment during pregnancy with the benign immune training agent OM-85Incomplete maturation of immune regulatory functions at birth is antecedent to the heightened risk for severe respiratory infections during infancy. Our forerunner animal model studies demonstrated that maternal treatment with the microbial-derived immune training agent OM-85 during pregnancy promotes accelerated postnatal maturation of mechanisms that regulate inflammatory processes in the offspring airways.
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Peri-operative steroid management in the paediatric populationPatients 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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Simplified bedside assessment of pulmonary gas exchange in very preterm infants at 36 weeks' postmenstrual ageWe aimed to develop and validate a prediction table for a simplified measure of rightward shift of the fetal oxyhaemoglobin saturation (SpO2) versus inspired oxygen pressure (P IO2) curve as an objective marker of lung disease severity in very preterm infants, independent of unit altitude or oxygen prescribing policies.
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Editorial overview: The physiology of the diseased lungAlexander Larcombe BScEnv (Hons) PhD Honorary Research Fellow Honorary Research Fellow Associate Professor Alexander Larcombe began work at The Kids
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Meal-time glycaemia in adults with type 1 diabetes using multiple daily injections vs insulin pump therapy following carbohydrate-counting education and bolus calculator provisionTo compare meal-time glycaemia in adults with type 1 diabetes mellitus managed with multiple daily injections vs. insulin pump therapy, using self-monitoring blood glucose, following diabetes education.
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WALLABY Pilot Survey: The Diversity of Ram Pressure Stripping of the Galactic HI Gas in the Hydra ClusterThis 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.