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Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancerThe Zero Childhood Cancer Program is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumors from high-risk pediatric patients with cancer, we identified 968 reportable molecular aberrations.
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Down syndrome or Rett syndrome in the family: Parental reflections on sibling experienceSiblings of children with intellectual disability have unique family experiences, varying by type of disability.
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The relationship between pitch contours in infant-directed speech and early signs of autism in infancyMother-infant interactions during the first year of life are crucial to healthy infant development. The infant-directed speech (IDS), and specifically pitch contours, used by mothers during interactions are associated with infant language and social development.
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Transition models of care for type 1 diabetes: a systematic reviewManaging the care regimen for Type 1 Diabetes is challenging for emerging adults, as they take on greater responsibility for self-management. A diverse range of models of care have been implemented to improve safety and quality of care during transition between paediatric and adult services. However, evidence about acceptability and effectiveness of these is limited.
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Impact of Body Composition on the Accuracy of a Medtronic Guardian Continuous Glucose Monitoring SystemContinuous glucose monitoring systems are used in therapeutic decisions for diabetes management, however, the impact of body composition on CGM accuracy is not known. Body composition variables were collected in an observational study designed to determine the accuracy of an investigational Medtronic Guardian™ sensor 3.
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Transient naive reprogramming corrects hiPS cells functionally and epigeneticallyCells undergo a major epigenome reconfiguration when reprogrammed to human induced pluripotent stem cells (hiPS cells). However, the epigenomes of hiPS cells and human embryonic stem (hES) cells differ significantly, which affects hiPS cell function. These differences include epigenetic memory and aberrations that emerge during reprogramming, for which the mechanisms remain unknown.
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Incidence of Stroke in the Aboriginal and Non-Aboriginal Populations of Australia: A Data Linkage StudyMost estimates of stroke incidence among Aboriginal and Torres Strait Islander (hereinafter Aboriginal) Australians are confined to single regions and include small sample sizes. We aimed to measure and compare stroke incidence in Aboriginal and non-Aboriginal residents across central and western Australia.
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Fathers’ preconception smoking and offspring DNA methylationExperimental studies suggest that exposures may impact respiratory health across generations via epigenetic changes transmitted specifically through male germ cells. Studies in humans are, however, limited. We aim to identify epigenetic marks in offspring associated with father's preconception smoking.
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Dimensions of the diet-exercise relationship in later life: A qualitative studyDiet and physical activity are two lifestyle behaviours that are critical for healthy ageing. The aim of this study was to explore how older adults negotiate dietary and physical activity decisions to identify areas of intersection between these two behaviours and inform health promotion interventions targeting both diet and exercise.
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Community-wide versus school-based targeted deworming for soil-transmitted helminth control in school-aged children in Vietnam: the CoDe-STH cluster-randomised controlled trialSoil-transmitted helminth (STH) infection control programs typically consist of school-based preventive chemotherapy (PC) targeted to school-aged children. STH reservoirs in untreated community members contribute to ongoing transmission in children. The CoDe-STH (Community Deworming against STH) trial, conducted in Dak Lak province, Vietnam, between October 2019 and November 2020, aimed to determine whether community-wide mass drug administration (MDA) is more effective than school-based targeted PC in reducing STH prevalence and intensity in children.