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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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Targeting cross-presentation as a route to improve the efficiency of peptide-based cancer vaccinesCross-presenting dendritic cells (DC) offer an attractive target for vaccination due to their unique ability to process exogenous antigens for presentation on MHC class I molecules. Recent reports have established that these DC express unique surface receptors and play a critical role in the initiation of anti-tumor immunity, opening the way for the development of vaccination strategies specifically targeting these cells.
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Investigation of structural brain correlates of neurological soft signs in individuals at ultra-high risk for psychosisIncreased severity of neurological soft signs (NSS) in schizophrenia have been associated with abnormal brain morphology in cerebello-thalamo-cortical structures, but it is unclear whether similar structures underlie NSS prior to the onset of psychosis. The present study investigated the relationship between severity of NSS and grey matter volume in individuals at ultra-high risk for psychosis stratified for later conversion to psychosis.
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The psychosocial impact of rare diseases among children and adolescents attending mainstream schools in Western AustraliaLiving with a long-term medical condition is associated with heightened risk for mental health and psychosocial difficulties, but further research is required on this risk for children and adolescents with a rare disease in the educational setting. The aim of this study is to describe parents’ perceptions of the psychosocial impact of rare diseases on their school-aged children in Western Australia.
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A screening tool to identify risk for bronchiectasis progression in children with cystic fibrosisThe marked heterogeneity in cystic fibrosis (CF) disease complicates the selection of those most likely to benefit from existing or emergent treatments. We aimed to predict the progression of bronchiectasis in preschool children with CF.
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Revision of the Australian guidelines to reduce health risks from drinking alcoholThe Australian guidelines to reduce health risks from drinking alcohol were released in 2020 by the National Health and Medical Research Council. Based on the latest evidence, the guidelines provide advice on how to keep the risk of harm from alcohol low.
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Traffic exposure, air pollution and children's physical activity at early childhood education and careA significant number of children attend Early Childhood Education and Care (ECEC). ECEC is an important environment and behaviour setting for young children. Time spent outdoors is positively associated with children's physical activity levels, yet increased time spent physically active outdoors may expose young children to traffic-related air pollution, particularly in ECEC centres located in high traffic areas.
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The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a severe treatment-resistant form of early-onset epilepsy. Current treatment options are often ineffective and associated with adverse effects, forcing families to seek alternative therapies for their children including products derived from cannabis. Reportsof miraculous cures and a public preferencefor 'natural' therapies have resulted in considerable public interest, and so this study aimed to characterize the use of cannabis in these individuals, as well as compare caregiver perceptions of efficacy and safety to objective evidence of seizure control and number of antiepileptic drugs used.
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The Collaboration for Increasing Influenza Vaccination in Children (CIIVIC): a meeting reportThe burden of seasonal influenza disease in Australian children is substantial, especially for those with medical comorbidities including chronic cardiac, respiratory, neurological and immunosuppressive conditions. Influenza is more likely to be severe in children with comorbidities compared to previously healthy children (e.g. more frequent and longer hospitalisation, more frequent intensive care unit admission and requiring respiratory support). Direct protection against influenza by vaccination is critical for children with comorbidities and remains the most effective tool for influenza prevention.
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Nasal airway epithelial repair after very preterm birthNasal epithelial cells from very preterm infants have a functional defect in their ability to repair beyond the first year of life, and failed repair may be associated with antenatal steroid exposure.