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Research
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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Comparative Postmarket Safety Profile of Adjuvanted and High-Dose Influenza Vaccines in Individuals 65 Years or OlderThe findings of this postmarketing assessment of the safety of 2 new enhanced influenza vaccines support confidence in ongoing vaccine use
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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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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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Causes and Clinical Features of Childhood Encephalitis: A Multicenter, Prospective Cohort StudyEpidemic viral infections predominated as causes of childhood encephalitis in Australia. The leading causes include vaccine-preventable diseases
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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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Airway and parenchyma transcriptomics in a house dust mite model of experimental asthmaLung transcriptomics studies in asthma have provided valuable information in the whole lung context, however, deciphering the individual contributions of the airway and parenchyma in disease pathogenesis may expedite the development of novel targeted treatment strategies. In this study, we performed transcriptomics on the airway and parenchyma using a house dust mite (HDM)-induced model of experimental asthma that replicates key features of the human disease.
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Psychosocial Interventions and Support Groups for Siblings of Individuals with Neurodevelopmental Conditions: A Mixed Methods Systematic Review of Sibling Self-reported Mental Health and Wellbeing OutcomesSiblings of persons with neurodevelopmental conditions (NDCs) have increased risk of poorer psychosocial functioning. This systematic review evaluated quantitative and qualitative evidence on sibling mental health and wellbeing outcomes following psychosocial interventions and the risk and protective factors associated with post-intervention outcomes.