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A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
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Change in health outcomes for First Nations children with chronic wet cough: rationale and study protocol for a multi-centre implementation science studyIn children, chronic wet cough may be a sign of underlying lung disease, including protracted bacterial bronchitis (PBB) and bronchiectasis. Chronic (> 4 weeks in duration) wet cough (without indicators pointing to alternative causes) that responds to antibiotic treatment is diagnostic of PBB. Timely recognition and management of PBB can prevent disease progression to irreversible bronchiectasis with lifelong consequences. However, detection and management require timely health-seeking by carers and effective management by clinicians.
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The safety of seasonal influenza vaccines in Australian children in 2013Our objective was to examine influenza vaccine safety in Australian children aged under 10 years in 2013.
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Sex-specific associations between umbilical cord blood testosterone levels and language delay in early childhoodPreliminary evidence suggests that prenatal testosterone exposure may be associated with language delay.
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Safety evaluation of closed loop system during hypoglyaemic stimuliThe purpose of this study is to evaluate the safety of new system called the Medtronic MinimedTM 670G that has been designed for long term outpatient use.
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Training Service Providers to work with Aboriginal and Torres Strait Islander LGBTQA+ youthBep Shakara Mirella Uink Liddelow-Hunt Wilson BPsych(Hons.), MAppPsy(Clinical), PhD BPhil(Hons) MAppPsych(Organisational), BA(Hons.) Honorary
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Invasive group A Streptococcus disease in Australian children: 2016 to 2018 - a descriptive cohort studyOur aims were to describe the epidemiological distribution of paediatric invasive group A Streptococcus disease in Australia and correlate this with influenza notifications
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Study protocol for controlled human infection for penicillin G against Streptococcus pyogenes: a double-blinded, placebo-controlled, randomised trial to determine the minimum concentration required to prevent experimental pharyngitis (the CHIPS trial)Regular intramuscular benzathine penicillin G injections have been the cornerstone of rheumatic heart disease (RHD) secondary prophylaxis since the 1950s. As the pharmacological correlate of protection remains unknown, it is difficult to recommend changes to this established regimen. Determining the minimum effective penicillin exposure required to prevent Streptococcus pyogenes infection will accelerate development of new long-acting penicillins for RHD prevention as well as inform opportunities to improve existing regimens. The CHIPS trial will address this knowledge gap by directly testing protection afforded by different steady state plasma concentrations of penicillin in an established model of experimental human S. pyogenes pharyngitis.
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Immunoinflammatory responses to febrile lower respiratory infections in infants display uniquely complex/intense transcriptomic profilesthe association between infant LRTI and risk for persistent wheeze/asthma in this cohort is generally stronger for fLRTIs than for other infection categories