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PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum

Large-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment.

Parents' experiences of children with a rare disease attending a mainstream school: Australia

To explore the perceptions of parents who had a child or adolescent (6-18 years) diagnosed with a rare disease who attended a mainstream school in Western Australia. Design and methods: A cross-sectional online survey was conducted with 41 parents of children with a rare disease.

A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistance

Mitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet.

Exposomes and metabolic health through a physical activity lens: a narrative review

In this narrative review, we provide an overview of the role of physical activity as part of differing exposomes (our combined non-genetic exposures from conception onwards) and environmental influences on metabolic health. We discuss 'beneficial' exposomes (green/natural outdoor spaces, sun exposure, healthy diets and features of built environments) that could synergise with physical activity to prevent metabolic dysfunction, particularly that related to lifestyle diseases of obesity, type 2 diabetes and metabolic syndrome.

Enteral Vitamin A for Reducing Severity of Bronchopulmonary Dysplasia: A Randomized Trial

Evidence suggests that intramuscular vitamin A reduces the risk of bronchopulmonary dysplasia (BPD) in preterm infants. Our objective was to compare enteral water-soluble vitamin A with placebo supplementation to reduce the severity of BPD in extremely preterm infants.

Beta-lactam-induced immediate hypersensitivity reactions: A genome-wide association study of a deeply phenotyped cohort

Background: β-lactam antibiotics are associated with a variety of immune-mediated or hypersensitivity reactions, including immediate (type I) reactions mediated by antigen-specific IgE. Objective: We sought to identify genetic predisposing factors for immediate reactions to β-lactam antibiotics.

Glycoprotein A as a biomarker of pulmonary infection and inflammation in children with cystic fibrosis

Glycoprotein A as a biomarker of pulmonary infection and inflammation in children with cystic fibrosis Background: Serum Glycoprotein A (GlycA)

A life of caring and a passion to give - local legend Harvey Coates

Over 20 years Professor Harvey Oates has made financial contributions to The Kids totaling over 6 figures, as well as sitting on the board for 16 years.

Giving kids with CF a chance at a longer, healthier life

COMBAT CF is one of two long-standing international trials which have resulted in new early intervention options helping to reduce progressive lung damage in kids living with CF.

“Connection, community and convenience”: A case study of a Facebook group for fathers navigating parenthood

Fathers remain less likely to participate in parenting interventions which can limit their ability to receive support and build their parenting capacity. The advent of social media has engendered novel opportunities for fathers to connect with, and support, one another in the form of online peer support. Growth of these online communities exemplifies the demand from fathers to relate to other fathers who are navigating parenthood. However, the benefits of membership to these communities remain unclear.