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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

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

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.

Research

Controlling the syphilis epidemic in Australia is a public health priority. Regular intramuscular (IM) injections of benzathine penicillin G (BPG) are the current standard of care for late latent syphilis in Australia; however, repeated IM BPG injections are painful, and treatment completion rates are low. Early-phase clinical trials have demonstrated the tolerability and safety of high-dose subcutaneous infusions of BPG (SCIP), where the total treatment dose can be delivered at a single visit. Here we describe the experiences and preferences of attendees of Western Australian sexual health clinics in the Perth metropolitan region who have syphilis and were treated with SCIP.

Research

Pain is a common experience associated with healthcare for children, who often recall it as the worst part of hospitalisation. Several factors make assessment of pain more challenging in children. Families have previously identified the development of improved tools to assess pain in children as a key priority. We therefore sough to investigate the nature of this experience from the perspective of children and their parents to inform the development of such tools.

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Paediatric patients continue to lack access to age-appropriate oral medicines for their treatment and have to depend on the off-label use of medicines approved for adults, which compromises dosing accuracy and exposes children to unpleasant bitterness. 

Research

Steve Zubrick FASSA, FAAMHS, MSc AM PhD Honorary Emeritus Research Fellow 08 6319 1409 Stephen.zubrick@thekids.org.au Honorary Emeritus Research

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Health-oriented marketing claims commonly and increasingly feature on alcohol products and target younger consumers. This study aimed to test effects of such claims on young adults' alcohol product perceptions and intended consumption.

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.