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Whole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specificity.
Despite evidence suggesting regular exercise (i.e. structured, repetitive and purposeful physical activity) attenuates cardiac patients’ decline in health, our understanding of factors affecting long-term exercise participation among this patient cohort is limited. This problem is pertinent, given that less than half of cardiac patients adhere to exercise following discharge from formal exercise-based rehabilitation programmes. In this study, we explored factors influencing exercise participation after an outpatient cardiac rehabilitation programme.
This review aims to systematically identify contextual and mechanistic factors that contribute to the success or failure of implementing effective HCs in the prevention and early detection of chronic diseases among Aboriginal and Torres Strait Islander people in Australian primary health care (PHC).
There are conflicting suggestions concerning the developmental trend of trust beliefs during middle childhood. Across three studies, the current research developed a brief measure of child general trust beliefs, as well as child measures of trust in peers and online, and examined age-related differences in these beliefs.
Adolescents and young adults with type 1 diabetes have an increased risk of psychological distress. To address this, psychological support provided asynchronously via an app may be feasible. Our study aimed to explore feasibility and safety of the LIFT wellbeing app.
Acquisition and development of the oral microbiome are dynamic processes that occur over early life. This study aimed to characterize the temporal development of the oral microbiome of predominantly breastfed infants during the first two years of life.
Desiree Silva MBBS, FRACP, MPH, PhD Co-Director, ORIGINS desiree.silva@thekids.org.au Co-Head, The ORIGINS Project Professor Desiree Silva is
Smokers are at an increased risk of developing mucosal head and neck squamous cell cancers (HNSCCs) and have a worse prognosis when treated. The cellular and molecular mechanisms underlying the latter has not been established. We therefore developed an in vitro model to investigate the effects of radiation and smoking on mucosal HNSCCs.
Assessment of motor competence is critical for planning and monitoring children's development. However, many assessment tools require time, training, and resources not available to most teachers. We aimed to evaluate the external aspect of construct validity of a rapid product-oriented fundamental movement skill assessment tool designed specifically for primary education settings.
Type-2 diabetes is a systemic condition with rising global prevalence, disproportionately affecting Indigenous communities worldwide. Recent advances in epigenomics methods, particularly in DNA methylation detection, have enabled the discovery of associations between epigenetic changes and Type-2 diabetes. In this review, we summarise DNA methylation profiling methods, and discuss how these technologies can facilitate the discovery of epigenomic biomarkers for Type-2 diabetes.