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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

To 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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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.

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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. 

Research

Preterm birth is associated with increased mortality and morbidity, particularly due to lung disease. Low- and middle-income countries (LMIC) have the highest rates of preterm birth. Infants born extremely preterm rarely survive, so the largest burden is amongst moderate-to-late preterm (MLP) infants. The long-term health impact on MLP children in LMIC is poorly understood. The aim of this study was to assess the effect of MLP birth on lung function trajectories from birth to 5 years in the Drakenstein Child Health Study.

Research

Tools that can be used to collect behavioural data during pandemics are needed to inform policy and practice. The objective of this project was to develop the Your COVID-19 Risk tool in response to the global spread of COVID-19, aiming to promote health behaviour change. We developed an online resource based on key behavioural evidence-based risk factors related to contracting and spreading COVID-19. This tool allows for assessing risk and provides instant support to protect individuals from infection.

Research

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

The relationship between anesthetic technique and pediatric oncological outcomes is an emerging field of interest. With significant improvements in childhood cancer survival in recent decades, there is an increased focus on optimizing the quality of survival and reducing the incidence of metastasis and recurrence. The aim of this narrative review article is to investigate and consolidate the current available evidence assessing the immunomodulatory effects of anesthesia in the pediatric oncology population.

Research

Previous 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). 

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.