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Single-cell data combined with phenotypes improves variant interpretationWhole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specificity.
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Norm Misperception and Witnessing Bullying: The Role of Individual and Contextual CharacteristicsPrevious studies have shown that when young people witness bullying, perceived social norms of their peer group affect their behavior. However, few studies have examined the specificity of norm misperception (i.e., overestimation of peer antisocial responses and the underestimation of prosocial responses relative to the objective group norm) on specific witness responses (joining in, bystanding or active defending).
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The Cold Atmospheric Plasma Inhibits Cancer Proliferation Through Reducing Glutathione SynthesisCold atmospheric plasma (CAP) is a safe and effective alternative to radiotherapy for cancer treatment. Its anticancer effects are attributed to increased intracellular reactive oxygen species (ROS). Glutathione, a key antioxidant derived from glutamine, is critical for cell proliferation. This study investigated whether CAP-induced ROS elevation results from reduced glutamine-glutathione conversion and elucidates the underlying mechanisms.
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A Multisite Randomized Controlled Trial of Hand Arm Bimanual Intensive Training Including Lower Extremity for Children with Bilateral Cerebral PalsyTo test the efficacy of Hand Arm Bimanual Intensive Therapy Including Lower Extremity (HABIT-ILE) to improve gross motor function, manual ability, goal performance, walking endurance, mobility, and self-care for children with bilateral cerebral palsy.
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Designing a paediatric teleotology pilot in the UK: Outcomes from a scoping review of the literature, with insights from the Ear Portal pilot service in Perth, Western AustraliaTo inform the design of a United Kingdom (UK) paediatric teleotology pilot by analysing global teleotology initiatives and drawing on insights from a successful paediatric teleotology pilot service in Perth, Western Australia (Ear Portal).
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A Systematic Review of Psychometric Properties of General Trust Measures Across the LifespanBelief in the trustworthiness of other people is foundational to human interaction, and thus, there is interest in its assessment across many disciplines. However, disunity in approaches to its conceptualization has resulted in a myriad of measures. This review collates and systematically appraises self-report general trust measures for use in either children or adults; examining target age, type of trust assessed, and measurement and psychometric properties.
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Patient and carer priorities for research and clinical care of children with Down syndromeDown syndrome, the most common genetic disorder, is caused by the presence of all or part of a third copy of chromosome 21. We identified the top 10 patient and carer research priorities for children with Down syndrome.
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Can lung disease be averted by focusing on early-life inequities?Shannon Simpson BMedSci (hons), PhD Head, Strong Beginnings Research, Co-head Foundations of Lung Disease 08 6319 1631 Shannon.simpson@thekids.org.au
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The relationship between administratively recorded ethnicity and outcomes for people admitted to Australian intensive care units with COVID-19The relationship between ethnicity and mortality of patients critically ill with COVID-19 in Australia has not been described. Defining those communities at the highest risk of severe COVID-19 may assist with formulating effective public health policy and may improve the equitable delivery of health care in Australia.
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A New Model to Investigate the Action of Radiation and Cigarette Smoke on Head and Neck Cancer CellsSmokers are at an increased risk of developing mucosal head and neck squamous cell cancers (HNSCCs) and have a worse prognosis when treated. The cellular and molecular mechanisms underlying the latter has not been established. We therefore developed an in vitro model to investigate the effects of radiation and smoking on mucosal HNSCCs.