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“If you build it, they will come”: the convergence of funding, research and collaboration in paediatric brain cancer clinical trialsEach year, approximately 1000 children in Australia and New Zealand, aged 0–14 years, are diagnosed with cancer. Despite paediatric cancer accounting for less than 1% of all cancer cases, the impact on their families and communities is profound and disproportionate.
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A GWAS for grip strength in cohorts of children-Advantages of analysing young participants for this traitGrip strength is a proxy measure for muscular strength and a predictor for bone fracture risk among other diseases. Previous genome-wide association studies have been conducted in large cohorts of adults focusing on scores collected for the dominant hand, therefore increasing the likelihood of confounding effects by environmental factors.
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Mental Health Problems Among Indonesian Adolescents: Findings of a Cross-Sectional Study Utilizing Validated Scales and Innovative Sampling MethodsThis study aimed to estimate the prevalence of mental health problems and identify potential risk and protective exposures for adolescents in Indonesia. An innovative sampling approach was applied to simultaneously recruit school- and community-based adolescents aged 16-18 years old from Jakarta (urban megacity) and South Sulawesi (remote province).
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Six months of hybrid closed-loop therapy improves diabetes-specific positive well-being, and reduces diabetes distress and fear of hypoglycemia: secondary analysis of a controlled trialThis analysis aimed to investigate diabetes-specific psychological outcomes among adults with type 1 diabetes (T1D) using hybrid closed-loop (HCL) versus standard therapy.
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Feto-placental vascular structure and in silico haemodynamics: Of mice, rats, and humanThe complex arborization of the feto-placental vasculature is crucial for optimal fetal nutrition, waste exchange and ultimately, development. Ethical and experimental limitations constrain research into the human placenta, hence experimental animal models such as mice and rats, are crucial to understand placental function. It is unclear how well the mouse and rat feto-placental vascular structure emulates human. Moreover, the implications of differences in vascular structure, especially in arborization, for placental function remain unclear.
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Predictive gene expression signature diagnoses neonatal sepsis before clinical presentationNeonatal sepsis is a deadly disease with non-specific clinical signs, delaying diagnosis and treatment. There remains a need for early biomarkers to facilitate timely intervention. Our objective was to identify neonatal sepsis gene expression biomarkers that could predict sepsis at birth, prior to clinical presentation.
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The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmapIn recent years, a small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them. This pioneering field of genetic N-of-1 therapies is evolving rapidly, giving hope for the individualized treatment of people living with very rare diseases.
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Development, construct validity and utility of a cross-culturally adapted Otitis Media-6 (OM-6) questionnaire for urban Aboriginal and/or Torres Strait Islander childrenTamara Chris Valerie Veselinovic Brennan-Jones Swift BSc(Hons) MClinAud PhD PhD Clinical Research Fellow Head, Ear and Hearing Health Aboriginal
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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modellingSETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.
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Early Dysglycemia Is Detectable Using Continuous Glucose Monitoring in Very Young Children at Risk of Type 1 DiabetesContinuous glucose monitoring (CGM) can detect early dysglycemia in older children and adults with presymptomatic type 1 diabetes and predict risk of progression to clinical onset. However, CGM data for very young children at greatest risk of disease progression are lacking.