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The Human Phenotype Ontology in 2021The Human Phenotype Ontology was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas.
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The Development and Feasibility of a Manualised Therapeutic Playgroup for Children with Developmental DelayPlaygroups are widely used throughout the Australian community yet understanding of their efficacy is hindered by inconsistent playgroup definitions and practice principles. This study aimed to develop, implement and evaluate the feasibility of a manualised therapeutic playgroup for children with developmental delay and their families using a three step process.
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Long-term outcomes following rheumatic heart disease diagnosis in AustraliaJeffrey Jonathan Judy Cannon Carapetis AM Katzenellenbogen BSc(Hons) BBus PhD AM MBBS FRACP FAFPHM PhD FAHMS BSc (Occ Ther) BSc Hons (Epidemiol) MSc
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The Interseasonal Resurgence of Respiratory Syncytial Virus in Australian Children Following the Reduction of Coronavirus Disease 2019-Related PublicFollowing the end of winter, there has been a persistent absence of severe acute respiratory syndrome coronavirus 2 community transmission and no increase in influenza detections. Limited physical distancing measures have remained in place, with largely no restrictions on gathering sizes and no mandate for wearing masks.
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Novel method to select meaningful outcomes for evaluation in clinical trialsA standardised framework for selecting outcomes for evaluation in trials has been proposed by the Core Outcome Measures in Effectiveness Trials working group. However, this method does not specify how to ensure that the outcomes that are selected are causally related to the disease and the health intervention being studied. Causal network diagrams may help researchers identify outcomes that are both clinically meaningful and likely to be causally dependent on the intervention, and endpoints that are, in turn, causally dependent on those outcomes.
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Accuracy of Central Neuro-Imaging Review of DIPG Compared with Histopathology in the International DIPG RegistryDiffuse intrinsic pontine glioma (DIPG) remains a clinico-radiologic diagnosis without routine tissue acquisition. Reliable imaging distinction between DIPG and other pontine tumors with potentially more favorable prognoses and treatment considerations is essential.
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School Readiness of Children Exposed to Family and Domestic ViolenceChildren have a universal right to live free from exposure to family and domestic violence (FDV). Children exposed to FDV can experience long-term effects on their physical and psychological health and their social competencies including social, emotional, and cognitive skills and behaviours that underpin successful social adaptation and academic achievement. The aim of this study was to investigate if children exposed to FDV were more likely to be vulnerable on school readiness measures compared to those children who were not exposed.
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Antifungal prescribing in neonates: Using national point prevalence survey data from AustraliaWe describe contemporary antifungal use in neonates, with point-prevalence survey data from the National Antimicrobial Prescribing Survey across Australian hospitals from 2014 to 2018.
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Is ‘a little’ too much?: An exploration of women’s beliefs about alcohol use during pregnancyInterventions to address alcohol use during pregnancy need to target underlying determinants of the behaviour. Using the theory of planned behaviour as a theoretical framework, the aim of this study was to identify behavioural, normative and control beliefs regarding alcohol use during pregnancy among a sample of women.
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Spatio-temporal patterns of childhood pneumonia in Bhutan: a Bayesian analysisPneumonia is one of the top 10 diseases by morbidity in Bhutan. This study aimed to investigate the spatial and temporal trends and risk factors of childhood pneumonia in Bhutan.