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Prevalence and characteristics of paediatric X-linked hypophosphataemia in Australia and New Zealand: Results from the Australian and the New Zealand Paediatric Surveillance Units surveyX-linked hypophosphataemia (XLH) is the most common heritable form of rickets. Prevalence data varies across the literature between 1 in 20,000 and 1 in 200,000 per population.
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Making a SmartStart for peanut introduction to support food allergy prevention guidelines for infantsFood allergy affects up to 10% of Australian infants. It was hypothesized that if parents follow the Australasian Society of Clinical Immunology and Allergy guidelines, Australian food allergy rates may stabilize or decline.
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Web-Based Self-Compassion Training to Improve the Well-Being of Youth With Chronic Medical Conditions: Randomized Controlled TrialUp to one-third of young people live with chronic physical conditions (eg, diabetes, asthma, and autoimmune disease) that frequently involve recurrent pain, fatigue, activity limitations, stigma, and isolation.
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ISOM 2023 research Panel 4 - Diagnostics and microbiology of otitis mediaTo identify and review key research advances from the literature published between 2019 and 2023 on the diagnosis and microbiology of otitis media (OM) including acute otitis media (AOM), recurrent AOM (rAOM), otitis media with effusion (OME), chronic suppurative otitis media (CSOM) and AOM complications (mastoiditis).
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Reproducible Bioinformatics Analysis Workflows for Detecting IGH Gene Fusions in B-Cell Acute Lymphoblastic Leukaemia PatientsB-cell acute lymphoblastic leukaemia (B-ALL) is characterised by diverse genomic alterations, the most frequent being gene fusions detected via transcriptomic analysis (mRNA-seq). Due to its hypervariable nature, gene fusions involving the Immunoglobulin Heavy Chain (IGH) locus can be difficult to detect with standard gene fusion calling algorithms and significant computational resources and analysis times are required. We aimed to optimize a gene fusion calling workflow to achieve best-case sensitivity for IGH gene fusion detection.
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Mental ill-health and substance use among sexuality diverse adolescents: The critical role of school climate and teacher self-efficacyMental ill-health, substance use and their co-occurrence among sexuality diverse young people during earlier adolescence is relatively understudied. The preventive utility of positive school climate for sexuality diverse adolescents' mental health is also unclear, as well as the role of teachers in conferring this benefit.
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A biobank of pediatric patient-derived-xenograft models in cancer precision medicine trial MAPPYACTS for relapsed and refractory tumorsPediatric patients with recurrent and refractory cancers are in most need for new treatments. This study developed patient-derived-xenograft (PDX) models within the European MAPPYACTS cancer precision medicine trial.
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Temporal landscape of mitochondrial proteostasis governed by the UPRmtBreakdown of mitochondrial proteostasis activates quality control pathways including the mitochondrial unfolded protein response (UPRmt) and PINK1/Parkin mitophagy. However, beyond the up-regulation of chaperones and proteases, we have a limited understanding of how the UPRmt remodels and restores damaged mitochondrial proteomes.
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Neonatal high-frequency oscillatory ventilation: where are we now?High-frequency oscillatory ventilation (HFOV) is an established mode of respiratory support in the neonatal intensive care unit. Large clinical trial data is based on first intention use in preterm infants with acute respiratory distress syndrome. Clinical practice has evolved from this narrow population. HFOV is most often reserved for term and preterm infants with severe, and often complex, respiratory failure not responding to conventional modalities of respiratory support.
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Allelic bias when performing in-solution enrichment of ancient human DNAIn-solution hybridisation enrichment of genetic variation is a valuable methodology in human paleogenomics. It allows enrichment of endogenous DNA by targeting genetic markers that are comparable between sequencing libraries. Many studies have used the 1240k reagent-which enriches 1,237,207 genome-wide SNPs-since 2015, though access was restricted.