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Human genetics of leishmania infectionsGWAS results provide firm confirmation for the importance of antigen presentation and the regulation of IFNγ in determining the outcome of Leishmania infections
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In “high-risk” infants with sufficient vitamin d status at birth, infant vitamin D supplementation had no effect on allergy outcomes: A randomized controlled trialEarly infancy oral vitamin D supplementation does not appear to reduce the development of early childhood allergic disease
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Systematic assessment of tissue dissociation and storage biases in single-cell and single-nucleus RNA-seq workflowsSystematic comparison of recovered cell types and their transcriptional profiles across the workflows has highlighted protocol-specific biase
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COPD-related modification to the airway epithelium permits intracellular residence of nontypeable haemophilus influenzaeOur findings indicate that COPD, cigarette smoke and macrolide antibiotics potentiate the susceptibility to persistent intracellular NTHi
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Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic DataExpanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historically, research about monogenic diseases has focused mainly on people with European ancestry. By comparison, less is known about pathogenic DNA variants in people from other pa
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Decreased Physical Working Capacity in Adolescents With Nonalcoholic Fatty Liver Disease Associates With Reduced Iron AvailabilityIn a well-defined cohort of adolescents, we found non-alcoholic fatty liver disease to be associated with decreased cardiorespiratory fitness, independent of BMI
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Our journey, our story: a study protocol for the evaluation of a co-design framework to improve services for Aboriginal youth mental health and well-beingMainstream Australian mental health services are failing Aboriginal young people. Despite investing resources, improvements in well-being have not materialised. Culturally and age appropriate ways of working are needed to improve service access and responsiveness. This Aboriginal-led study brings Aboriginal Elders, young people and youth mental health service staff together to build relationships to co-design service models and evaluation tools.
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The Comprehensive Autistic Trait Inventory (CATI): development and validation of a new measure of autistic traits in the general populationTraits and characteristics qualitatively similar to those seen in diagnosed autism spectrum disorder can be found to varying degrees in the general population. To measure these traits and facilitate their use in autism research, several questionnaires have been developed that provide broad measures of autistic traits [e.g. Autism-Spectrum Quotient (AQ), Broad Autism Phenotype Questionnaire (BAPQ)]. However, since their development, our understanding of autism has grown considerably, and it is arguable that existing measures do not provide an ideal representation of the trait dimensions currently associated with autism. Our aim was to create a new measure of autistic traits that reflects our current understanding of autism, the Comprehensive Autism Trait Inventory (CATI).
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Outcomes for Australian children with relapsed/refractory acute lymphoblastic leukaemia treated with blinatumomabWe report on the Australian experience of blinatumomab for treatment of 24 children with relapsed/refractory precursor B-cell acute lymphoblastic leukaemia (B-ALL) and high-risk genetics, resulting in a minimal residual disease (MRD) response rate of 58%, 2-year progression-free survival (PFS) of 39% and 2-year overall survival of 63%. In total, 83% (n = 20/24) proceeded to haematopoietic stem cell transplant, directly after blinatumomab (n = 12) or following additional salvage therapy (n = 8).
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The EU Child Cohort Network’s core data: establishing a set of findable, accessible, interoperable and re-usable (FAIR) variablesThe Horizon2020 LifeCycle Project is a cross-cohort collaboration which brings together data from multiple birth cohorts from across Europe and Australia to facilitate studies on the influence of early-life exposures on later health outcomes. A major product of this collaboration has been the establishment of a FAIR (findable, accessible, interoperable and reusable) data resource known as the EU Child Cohort Network. Here we focus on the EU Child Cohort Network's core variables.