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Research

Whole 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. 

Research

Cold 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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To 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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Transgender and gender diverse (“trans”) people are more likely to experience adverse mental health outcomes due to the social adversities that are commonly experienced. One ameliorating factor for poor mental health outcomes can be connection to community, often facilitated in online spaces such as TikTok.

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Early childhood wheeze is a major risk factor for asthma. However, not all children who wheeze will develop the disease. The airway epithelium has been shown to be involved in asthma pathogenesis. Despite this, the airway epithelium of children with acute wheeze remains poorly characterized.

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Language development is critical for children's life chances. Promoting parent-child interactions is suggested as one mechanism to support language development in the early years. However, limited evidence exists for a causal effect of parent-child interactions on children's language development.

Research

Belief 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. 

Research

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 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.

Research

Smokers 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.