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Clinical associations and prevalence of Scedosporium spp. in Australian cystic fibrosis patients: identification of novel risk factorsRisk factors for the association of Scedosporium in cases of cystic fibrosis (CF) and its clinical implications are poorly understood
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Are you listening? The inaugural OMOZ Workshop - towards a better understanding of otitis mediaAre you listening? The inaugural OMOZ Workshop - towards a better understanding of otitis media
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Addison Disease – diagnosis and initial managementAdrenal insufficiency is a rare disease caused by either primary adrenal failure (Addison disease) or by impairment of the hypothalamic-pituitary-adrenal axis
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Identifying peroxidases and their oxidants in the early pathology of cystic fibrosisWe aimed to determine whether myeloperoxidase (MPO) is the main peroxidase present in the airways of children with cystic fibrosis (CF) and to assess which oxid
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A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1To identify new susceptibility loci for psoriasis, we undertook a genome-wide association study of 594,224 SNPs in 2,622 individuals with psoriasis...
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Changes in the FEV/FVC ratio during childhood and adolescence: an intercontinental studyIn children, the ratio of forced expiratory volume in 1 s (FEV₁) to forced vital capacity (FVC) is reportedly constant or falls linearly with age...
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Commentary: A spectrum for all? A response to Green et al. (2023), neurodiversity, autism and health careThe broadening of the clinical definition of autism over time-the so-called, autism spectrum-has run in parallel with the growth of a neurodiversity movement that has reframed the concept of autism entirely. Without a coherent and evidence-based framework through which both of these advances can be situated, the field is at risk of losing definition altogether.
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EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMOEllis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis.
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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanismsCornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.
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Non-communicable disease mortality in young people with a history of contact with the youth justice system in Queensland, Australia: a retrospective, population-based cohort studyYoung people who have had contact with the criminal justice system are at increased risk of early death, especially from injuries. However, deaths due to non-communicable diseases (NCDs) in this population remain poorly described. We aimed to estimate mortality due to NCDs in people with a history of involvement with the youth justice system, compare NCD mortality rates in this population with those in the general population, and characterise demographic and justice-related factors associated with deaths caused by NCDs in people with a history of contact with the youth justice system.