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TANGO2 binds crystallin alpha B and its loss causes desminopathyMutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown.
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The Lancet Child & Adolescent Health Commission on the future of neonatologyJane Pillow BMedSci (Dist) MBBS, PhD (Dist) FRACP Head, Developmental Chronobiology jane.pillow@thekids.org.au Head, Developmental Chronobiology
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Diaphragm Function in Very Preterm Infants at 36 Weeks' Postmenstrual AgeUnderstand how bronchopulmonary dysplasia (BPD) and antenatal and postnatal factors influence diaphragmatic functional effectiveness in very preterm infants.
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Immune Development in Early Life (IDEaL) longitudinal cohort study protocol: Identifying biomarkers of vaccine responsiveness, respiratory infection, and asthmaEarly-life immune development is a critical factor in predicting the risk of childhood respiratory infections, asthma, and poor vaccine responses. Identifying immune endotypes that predispose children to these conditions could lead to the development of predictive biomarkers and early interventions, potentially improving long-term health outcomes.
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Back to the future: A call to generalism in psychiatryProviding a sustainably resourced medical workforce to meet the healthcare needs of a population is a significant challenge. Drivers of medical workforce issues include an ageing population, increasing chronic disease, skill shortages and workforce maldistribution. In this paper, we consider the imbalance between generalism and specialism in Australia, arguing that generalist positions may better address the current healthcare gaps.
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Efficacy and Safety of Epicutaneous Immunotherapy in Peanut-Allergic Toddlers: Open-Label Extension to EPITOPEThe pivotal phase 3 EPITOPE trial, a 12-month, double-blind, placebo-controlled study of epicutaneous immunotherapy with the VIASKIN patch containing 250 μg of peanut protein (VP250), previously reported significant treatment response versus placebo in peanut-allergic toddlers aged 1 through 3 years.
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Trimodal skin health programme for childhood impetigo control in remote Western Australia (SToP): a cluster randomised, stepped-wedge trialSkin infections affect physical health and, through stigma, social-emotional health. When untreated, they can cause life-threatening conditions. We aimed to assess the effect of a holistic, co-designed, region-wide skin control programme on the prevalence of impetigo.
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A qualitative exploration of the phenomenology of pain in children to inform pain assessment methodsPain is a common experience associated with healthcare for children, who often recall it as the worst part of hospitalisation. Several factors make assessment of pain more challenging in children. Families have previously identified the development of improved tools to assess pain in children as a key priority. We therefore sough to investigate the nature of this experience from the perspective of children and their parents to inform the development of such tools.
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Numerical simulation of aerosolised medicine delivery through tracheostomy airwaysThe administration of inhaled antibiotics to patients with upper or lower respiratory infections is sometimes conducted via a tracheostomy airway. However, precise dosing via this route remains uncertain, especially in spontaneously breathing paediatric patients.
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Cohort Profile: Growing up in Australia: the Longitudinal Study of Australian Children (LSAC)Steve Zubrick FASSA, FAAMHS, MSc AM PhD Honorary Emeritus Research Fellow 08 6319 1409 Stephen.zubrick@thekids.org.au Honorary Emeritus Research