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EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMOEllis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis.
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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanismsCornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.
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Whole-cell pertussis vaccine in early infancy for the prevention of allergy in childrenAtopic diseases are the most common chronic conditions of childhood. The apparent rise in food anaphylaxis in young children over the past three decades is of particular concern, owing to the lack of proven prevention strategies other than the timely introduction of peanut and egg.
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Effect of Preemptive Intervention on Developmental Outcomes Among Infants Showing Early Signs of Autism: A Randomized Clinical Trial of Outcomes to DiagnosisIntervention for individuals with autism spectrum disorder (ASD) typically commences after diagnosis. No trial of an intervention administered to infants before diagnosis has shown an effect on diagnostic outcomes to date.
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Wise Ancestors, Good Ancestors: Why Mindfulness Matters in the Promotion of Planetary HealthThe concept of planetary health blurs the artificial lines between health at scales of person, place, and planet. It emphasizes the interconnected grand challenges of our time, and underscores the need for integration of biological, psychological, social, and cultural aspects of health in the modern environment. Here, in our Viewpoint article, we revisit vaccine pioneer Jonas Salk’s contention that wisdom is central to the concept of planetary health.
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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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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.
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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.