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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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Levels of pneumococcal conjugate vaccine coverage and indirect protection against invasive pneumococcal disease and pneumonia hospitalisations in Australia: An observational studyThere is limited empiric evidence on the coverage of pneumococcal conjugate vaccines (PCVs) required to generate substantial indirect protection. We investigate the association between population PCV coverage and indirect protection against invasive pneumococcal disease (IPD) and pneumonia hospitalisations among undervaccinated Australian children.
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Fuel feedstock determines biodiesel exhaust toxicity in a human airway epithelial cell exposure modelBiodiesel is promoted as a sustainable replacement for commercial diesel. Biodiesel fuel and exhaust properties change depending on the base feedstock oil/fat used during creation. The aims of this study were, for the first time, to compare the exhaust exposure health impacts of a wide range of biodiesels made from different feedstocks and relate these effects with the corresponding exhaust characteristics.
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CDKL5 deficiency disorder: clinical features, diagnosis, and managementCDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.
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Living liveable? RESIDE's evaluation of the “Liveable Neighborhoods” planning policy on the health supportive behaviors and wellbeing of residents in PerthNew suburban communities built in accordance with the “Liveable Neighbourhoods” policy have the potential to encourage health supportive behaviors
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The influence of the early childhood education and care environment on young children’s physical activityThe PLAYCE Study instruments provide reliable measures of early childhood education and care physical activity environments
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Ovalbumin in breast milk is associated with a decreased risk of IgE-mediated egg allergy in childrenShowed for the first time that the presence of an egg-derived allergen in breast milk is associated with a reduced risk of egg allergy in children at 2.5 years of age
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Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndromeRett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children.
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Multi-Omic Data Integration Allows Baseline Immune Signatures to Predict Hepatitis B Vaccine Response in a Small CohortVaccination remains one of the most effective means of reducing the burden of infectious diseases globally. Improving our understanding of the molecular basis for effective vaccine response is of paramount importance if we are to ensure the success of future vaccine development efforts. We applied cutting edge multi-omics approaches to extensively characterize temporal molecular responses following vaccination with hepatitis B virus (HBV) vaccine. Data were integrated across cellular, epigenomic, transcriptomic, proteomic, and fecal microbiome profiles, and correlated to final HBV antibody titres.
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Oral health education and promotion in special needs children: Systematic review and meta-analysisTo review the effectiveness of oral health education and oral health promotion interventions for children and adolescents with intellectual and developmental disabilities (IDD), in ensuring optimal gingival health, caries experience and oral health-related quality of life, compared to no interventions or alternative interventions.