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Research

COVID-19 Vaccine Mandates: Attitudes and Effects on Holdouts in a Large Australian University Population

Many governments and institutions mandated COVID-19 vaccines. In late 2021, we sought to ascertain the perspectives of staff and students from The University of Western Australia about the State or the University mandating COVID-19 vaccines.

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Clinical experience with SUBA-itraconazole at a tertiary paediatric hospital

Itraconazole remains a first-line antifungal agent for certain fungal infections in children, including allergic bronchopulmonary aspergillosis (ABPA) and sporotrichosis, but poor attainment of therapeutic drug levels is frequently observed with available oral formulations. A formulation of 'SUper BioAvailability itraconazole' (SUBA-itraconazole; LozanocĀ®) has been developed, with adult studies demonstrating rapid and reliable attainment of therapeutic levels, yet paediatric data are lacking.

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A flexible computational pipeline for research analyses of unsolved clinical exome cases

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.

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Assessing the burden of laboratory-confirmed respiratory syncytial virus infection in a population cohort of Australian children through record linkage

Respiratory syncytial virus is pervasive across multiple severity levels and diagnoses. Vaccines targeting children <3 months must be prioritized

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Gain of chromosome 21 in hematological malignancies: lessons from studying leukemia in children with Down syndrome

Structural and numerical alterations of chromosome 21 are extremely common in hematological malignancies. While the functional impact of chimeric transcripts from fused chromosome 21 genes such as TEL-AML1, AML1-ETO, or FUS-ERG have been extensively studied, the role of gain of chromosome 21 remains largely unknown.

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The development of a consensus statement for the prescription of powered wheelchair standing devices in Duchenne muscular dystrophy

PURPOSE: To develop a consensus statement for the prescription of a Powered Wheelchair Standing Device (PWSD) in young people with Duchenne muscular dystrophy (DMD). MATERIALS AND METHODS: An international multidisciplinary panel comprising clinicians and users (young people with DMD) along with their parents was consulted. A literature review was undertaken and a Delphi method was utilised to generate consensus statements.

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Anaesthesia, pain and recovery profiles in children following dental extractions

The aim of this prospective cohort study was to describe the anaesthetic practices, rates of postoperative pain and the recovery trajectory of children having urgent dental extractions at our institution.

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Long-term economic outcomes for interventions in early childhood: protocol for a systematic review

Investment in early childhood produces positive returns: for the child, the family and the community.

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A positive feedback loop between alpha1-adrenoceptors and inflammatory cytokines in keratinocytes

Our results suggest that reciprocal influences between alpha1-adrenoceptors and inflammatory cytokines may play a role in normal inflammatory responses

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New genetic predictors for abacavir tolerance in HLA-B*57:01 positive individuals

We investigated immune and non-immune related genes to determine other factors required for the development of Abacavir hypersensitivity syndrome