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Oral health care and service utilisation in individuals with Rett syndrome: an international cross-sectional studyThere is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care.
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Weather and children's time allocationThis paper presents the first causal estimates of the effect of weather on children's time allocation. It exploits exogenous variations in local weather observed during the random diary dates of two nationally representative cohorts of Australian children whose time-use diaries were surveyed biennially over 10 years.
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Global phosphoproteomics reveals DYRK1A regulates CDK1 activity in glioblastoma cellsBoth tumour suppressive and oncogenic functions have been reported for dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A). Herein, we performed a detailed investigation to delineate the role of DYRK1A in glioblastoma. Our phosphoproteomic and mechanistic studies show that DYRK1A induces degradation of cyclin B by phosphorylating CDC23, which is necessary for the function of the anaphase-promoting complex, a ubiquitin ligase that degrades mitotic proteins.
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Can the CHA2 DS2 -VA schema be used to decide on anticoagulant therapy in Aboriginal and other Australians with non-valvular atrial fibrillation?The Australasian guidelines recommend use of the CHA2 DS2 -VA schema to stratify ischaemic stroke risk in patients with non-valvular atrial fibrillation (N-VAF) and determine risk thresholds for recommending oral anticoagulant (OAC) therapy. However, the CHA2 DS2 -VA score has not been validated in a representative Australian population cohort with N-VAF, including in Aboriginal people who are known to have a higher age-adjusted stroke risk than other Australians.
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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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Introduction to the updated Australasian consensus guidelines for the management of invasive fungal disease and use of antifungal agents in the haematology/oncology setting, 2021This article introduces the fourth update of the Australian and New Zealand consensus guidelines for the management of invasive fungal disease and use of antifungal agents in the haematology/oncology setting. These guidelines are comprised of nine articles as presented in this special issue of the Internal Medicine Journal. This introductory chapter outlines the rationale for the current update and the steps taken to ensure implementability in local settings.
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Consensus guidelines for the diagnosis and management of invasive aspergillosis, 2021Invasive aspergillosis (IA) in haematology/oncology patients presents as primary infection or breakthrough infection, which can become refractory to antifungal treatment and has a high associated mortality. Other emerging patient risk groups include patients in the intensive care setting with severe respiratory viral infections, including COVID-19.
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Fetal alcohol spectrum disorders screening tools: A systematic reviewScreening facilitates the early identification of fetal alcohol spectrum disorder (FASD) and prevalence estimation of FASD for timely prevention, diagnostic, and management planning.
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Overarching Evaluation of the National Support for Child and Youth Mental Health Program- Final ReportThe National Support for Child and Youth Mental Health Program (the Program) aims to improve mental health outcomes for children and young people, commencing with the early years and going through to adolescence, by providing targeted grants for workforce and education activities that will build capabilities aligned to the Program objectives.
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Active transport research priorities for AustraliaTo advance active transport, robust policy-relevant evidence is needed to understand how to change behaviour and to support decision-making by policy makers and practitioners. Currently, however, priority research questions that are most critical for advancing active transport have not been identified.