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Research

An evaluation of GPT models for phenotype concept recognition

Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field.

Research

Glycemic and Psychosocial Outcomes of Advanced Hybrid Closed-Loop Therapy in Youth With High HbA1c: A Randomized Clinical Trial

To determine the efficacy of advanced hybrid closed-loop therapy in a high-risk cohort of youth on continuous subcutaneous insulin infusion with or without continuous glucose monitoring with suboptimal glycemia.

Research

Suppressing recurrence in Sonic Hedgehog subgroup medulloblastoma using the OLIG2 inhibitor CT-179

OLIG2-expressing tumor stem cells have been shown to drive recurrence in Sonic Hedgehog (SHH)-subgroup medulloblastoma (MB) and patients urgently need specific therapies to target this tumor cell population.

Research

Spatial co-distribution of tuberculosis prevalence and low BCG vaccination coverage in Ethiopia

While bacille-calmette-guerin (BCG) vaccination is one of the recommended strategies for preventing tuberculosis, its coverage is low in several countries, including Ethiopia. This study investigated the spatial co-distribution and drivers of TB prevalence and low BCG coverage in Ethiopia.

Research

Indigenous Australian perspectives on the perinatal period: Social well-being, culture and early infant attachments

Although social factors and culture are significant determinants of health in Aboriginal and Torres Strait Islander peoples, little is known academically about key interpersonal and social experiences of this population during the perinatal period, or how early attachments are formed through culture. This study addressed this gap in the literature. 

Research

Developmental queer and trans actualizations: A clear pathway to promoting health and well-being for sexually and gender diverse youth

Minority stress models and trauma-focused approaches have predominated our understanding and responses to health disparities among sexually and gender diverse (SGD) young people for more than 30 years. While the impacts and root causes of adversities are undoubtedly critical for promoting SGD health and well-being, it is important to highlight strengths-based narratives of the lives of SGD youth.

Research

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Timo Lassmann BSc (Hons) MSc PhD Feilman Fellow; Head, Precision Health Research and Head, Computational Biology timo.lassmann@thekids.org.au

Research

Real world effectiveness of early ensitrelvir treatment in patients with SARS-CoV-2, a retrospective case series

Ensitrelvir, a 3C-like protease inhibitor, received emergency approval in Japan in November 2022 for treating non-hospitalized patients with mild-to-moderate COVID-19. However, confirmation of its real-world clinical effectiveness is limited.

Research

Neurodivergence, intersectionality, and eating disorders: a lived experience-led narrative review

Autistic people and those with attention deficit hyperactivity disorder are at a high risk of developing an eating disorder. While there is limited evidence on the relationship between other forms of neurodivergence and eating disorders, research suggests associations between giftedness, intellectual disability, obsessive-compulsive disorder, psychosis, Tourette's syndrome, and disordered eating.

Research

‘People don't trust those pieces of paper that are provided’: A qualitative study of cultural planning and outsourced out-of-home care services in Western Australia

Aboriginal and Torres Strait Islander children continue to be removed at high rates from their families by child protection services, placing them at elevated risk of adverse long-term life outcomes. Cultural connection in out-of-home care is essential for mitigating the impacts of trauma from removal, emphasizing the importance of ensuring that cultural planning is rigorously undertaken. This article explores the provision of cultural plans in an era where out-of-home care services are outsourced by government, but where government holds onto the responsibility for developing cultural plans for children in care.