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Research

Commentary: A spectrum for all? A response to Green et al. (2023), neurodiversity, autism and health care

The 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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Experience of primary caregivers in utilising an mHealth application for remote dental screening in preschool children

This study aimed to address the acceptance of mHealth applications for a dental screening app that facilitates patient information entry and captures dental photos remotely to assist in caries diagnosis in preschool children in Australia.

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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 study

Young 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.

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EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

Ellis 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 mechanisms

Cornelia 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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From signalling pathways to targeted therapies: unravelling glioblastoma’s secrets and harnessing two decades of progress

Glioblastoma, a rare, and highly lethal form of brain cancer, poses significant challenges in terms of therapeutic resistance, and poor survival rates for both adult and paediatric patients alike. Despite advancements in brain cancer research driven by a technological revolution, translating our understanding of glioblastoma pathogenesis into improved clinical outcomes remains a critical unmet need.

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Oscillometry and spirometry are not interchangeable when assessing the bronchodilator response in children and young adults born preterm

The European Respiratory Society Oscillometry Taskforce identified that clinical correlates of bronchodilator responses are needed to advance oscillometry in clinical practice. The understanding of bronchodilator-induced oscillometry changes in preterm lung disease is poor. Here we describe a comparison of bronchodilator assessments performed using oscillometry and spirometry in a population born very preterm and explore the relationship between bronchodilator-induced changes in respiratory function and clinical outcomes.

Research

Beta Agonists for Prevention of Respiratory Adverse Events in Children Undergoing Adenotonsillectomy: Long-Acting, Short Acting, or Not Acting

Adenotonsillectomy is one of the most common surgical interventions in children, and while generally safe, it is associated with a risk of significant adverse events. In this issue, Kim et al report a prospective randomized controlled study comparing preoperative use of a tulobuterol (longacting beta agonist) dermal patch with placebo on the incidence of perioperative respiratory adverse events (PRAEs) in children undergoing adenotonsillectomy.

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Understanding the implementation of health checks in the prevention and early detection of chronic diseases among Aboriginal and Torres Strait Islander people in Australia: a realist review protocol

Chronic disease remains the leading cause of morbidity and mortality among Aboriginal and Torres Strait Islander peoples in Australia. Regular structured, comprehensive health assessments are available to Aboriginal and Torres Strait Islander people as annual health checks funded through the Medicare Benefits Schedule.