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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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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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Parents’ experience and psychoeducation needs when supporting a young person who self-harmsThe study highlights the need for support for parents and carers of young people who engage in self-harm
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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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Immune function during early adolescence positively predicts adult facial sexual dimorphism in both men and womenOur results support a fundamental assumption that facial sexual dimorphism is an indicator of immune function during the development of facial sexual dimorphism
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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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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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Predictors of hospital readmission in infants less than 3 months oldTo examine rates and predictors of 7-day readmission in infants hospitalised before 3 months of age with infectious and non-infectious conditions. A retrospective population-based data-linkage study of 121 854 infants from a 5-year metropolitan birth cohort (2008-2012). Cox proportional hazard models were used to examine associations between infant and maternal factors with 7-day readmission.
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Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international datasetCharacterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.
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Outcomes and endpoints reported in studies of pulmonary exacerbations in people with cystic fibrosis: A systematic reviewThere is no consensus about which outcomes should be evaluated in studies of pulmonary exacerbations in people with cystic fibrosis (CF). Outcomes used for evaluation should be meaningful; that is, they should capture how people feel, function or survive and be acknowledged as important to people with CF, or should be reliable surrogates of those outcomes. We aimed to summarise the outcomes and corresponding endpoints which have been reported in studies of pulmonary exacerbations, and to identify those which are most likely to be meaningful.