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Research

Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown. 

Research

Jane Pillow BMedSci (Dist) MBBS, PhD (Dist) FRACP Head, Developmental Chronobiology jane.pillow@thekids.org.au Head, Developmental Chronobiology

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Several studies have established that patients with localized perinatal neuroblastoma can be safely observed; however, long-term outcomes have not been previously reported. We evaluated long-term outcomes of infants with suspected perinatal neuroblastoma enrolled on the Children's Oncology Group ANBL00P2, which included an expectant observation approach. 

Research

Providing a sustainably resourced medical workforce to meet the healthcare needs of a population is a significant challenge. Drivers of medical workforce issues include an ageing population, increasing chronic disease, skill shortages and workforce maldistribution. In this paper, we consider the imbalance between generalism and specialism in Australia, arguing that generalist positions may better address the current healthcare gaps.

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Gut microbiota play a critical role in long-term health by supporting metabolism, immune function, inflammation regulation, and neurological development via the gut–brain axis. Beneficial bacteria enhance gut integrity through short-chain fatty acid production, pathogen inhibition, and mucosal barrier support.

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Gliomas are the most common type of malignant primary central nervous system (CNS) tumors, resulting in significant morbidity and mortality in children and adolescent and young adult (AYA) patients. The discovery of mutations in isocitrate dehydrogenase (IDH) genes has dramatically changed the classification and understanding of gliomas.  IDH mutant gliomas have distinct clinical, pathological, and molecular features including a favorable prognosis and response to therapy compared to their wildtype counterparts.

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Young children are increasingly exposed to evolving screen technology. International guidelines recommend no screen use for children under the age of 2 years, due to the potential for detrimental effects on behaviour and development. However, evidence for these guidelines is limited by inadequate consideration of device-specific effects (TV and mobile phone/tablet computer), maternal screen use, confounders such as maternal mental health and importance of effect sizes.

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Peri-operative respiratory adverse events remain a major cause of morbidity and mortality in children undergoing general anaesthesia; those with asthma are at higher risk. The aim of this feasibility study was to determine whether pre-operative measurements of fractional exhaled nitric oxide and the forced oscillation technique are feasible in children, and to explore whether these measurements can predict peri-operative respiratory adverse events.

Research

Autism genetics has historically attracted a substantial proportion of autism research funding internationally. However, more recently, several controversies centered on ethical conduct and lack of community consultation have emerged. This has triggered Autistic-led protests for the functional and meaningful inclusion of Autistic voices in the research design.

Research

Suicide was the leading cause of death among young Australians aged 15-24 years old in 2023, with 392 lives lost. The continued high numbers of youth suicide demand urgent exploration of alternative approaches to suicide intervention in this population. The United Kingdom-based suicide service Maytree offers an innovative short-term stay for people experiencing suicidal thoughts. Grounded by the Maytree model-of-care, the aim of the current study was to co-design a short-stay service responsive to the specific needs of suicidal young people.