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Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4Previous genome-wide association studies revealed multiple common variants involved in eczema but the role of rare variants remains to be elucidated. Here, we investigate the role of rare variants in eczema susceptibility. We meta-analyze 21 study populations including 20,016 eczema cases and 380,433 controls. Rare variants are imputed with high accuracy using large population-based reference panels.
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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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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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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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Methods for modelling excess mortality across England during the COVID-19 pandemicExcess mortality is an important measure of the scale of the coronavirus-2019 pandemic. It includes both deaths caused directly by the pandemic, and deaths caused by the unintended consequences of containment such as delays to accessing care or postponements of healthcare provision in the population. In 2020 and 2021, in England, multiple groups have produced measures of excess mortality during the pandemic.
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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.
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Clinical predictors of severe dengue: a systematic review and meta-analysisSevere dengue is a life-threatening complication; rapid identification of these cases, followed by adequate management is crucial to improve the clinical prognosis. Therefore, this study aimed to identify risk factors and predictors of severe dengue.
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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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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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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.