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Ethics and equity in rare disease research and healthcareRapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing.
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Early surveillance of infants and preschool children with cystic fibrosisSensitive and non-invasive surveillance tools are needed for the clinical management of infants and preschool children with cystic fibrosis (CF). The lung clearance index from the multiple breath washout and functional and morphological outcomes from magnetic resonance imaging provide promising alternatives to current gold standard techniques. Early detection and treatment of lung disease during this important period offers the opportunity to improve the quality of life for individuals with CF.
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The longitudinal relationship between BOLD signal variability changes and white matter maturation during early childhoodIntra-individual transient temporal fluctuations in brain signal, as measured by fMRI blood oxygenation level dependent (BOLD) variability, is increasingly considered an important signal rather than measurement noise.
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Association between food-outlet availability near secondary schools and junk-food purchasing among Australian adolescentsWe sought to investigate the association between food-outlet availability near Australian secondary schools and frequency of Australian students’ discretionary food purchases.
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A novel mobile health app to educate and empower young people with type 1 diabetes to exercise safely: Prospective single-arm mixed methods pilot studyEmpowering young people with type 1 diabetes (T1D) to manage their blood glucose levels during exercise is a complex challenge faced by health care professionals due to the unpredictable nature of exercise and its effect on blood glucose levels. Mobile health (mHealth) apps would be useful as a decision-support aid to effectively contextualize a blood glucose result and take appropriate action to optimize glucose levels during and after exercise.
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Study protocol for Healthy Conversations @ Playgroup: a multi-site cluster randomized controlled trial of an intervention to promote healthy lifestyle behaviours in young children attending community playgroupsEarly childhood is a critical window for preventing obesity and chronic disease. Yet, 1 in 4 Australian children aged 5 years and under are affected by overweight or obesity; and significant proportions of children under 5 years fail to meet guidelines for diet quality, physical activity (PA), screen time, and sleep.
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Without training, they lacked knowledge. Without knowledge, they lacked confidence. Without confidence, they lacked victory (Julius Caesar)Britta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant
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A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistanceMitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet.
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Machine Learning-Based Single Cell and Integrative Analysis Reveals That Baseline mDC Predisposition Correlates With Hepatitis B Vaccine Antibody ResponseVaccination to prevent infectious disease is one of the most successful public health interventions ever developed. And yet, variability in individual vaccine effectiveness suggests that a better mechanistic understanding of vaccine-induced immune responses could improve vaccine design and efficacy.
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Identifying young adults at high risk of cardiometabolic disease using cluster analysis and the Framingham 30-yr risk scoreCurrent strategies to reduce cardiovascular disease (CVD) risk in young adults are largely limited to those at extremes of risk. In cohort studies we have shown cluster analysis identified a large sub-group of adolescents with multiple risk factors.