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Chris Valerie Brennan-Jones Swift PhD Head, Ear and Hearing Health Aboriginal Co-Director, Djaalinj Waakinj Centre for Ear and Hearing Health;

Research

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. 

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Research suggests there is considerable opportunity to improve children's movement behaviors while they are being cared for by their grandparents. An understanding of the extent to which grandparent practices facilitate children's engagement in physical activity is critical to the development of health interventions targeting grandparent caregivers.

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Blood glucose management around exercise is challenging for youth with type 1 diabetes (T1D). Previous research has indicated interventions including decision-support aids to better support youth to effectively contextualize blood glucose results and take appropriate action to optimize glucose levels during and after exercise. Mobile health (mHealth) apps help deliver health behavior interventions to youth with T1D, given the use of technology for glucose monitoring, insulin dosing, and carbohydrate counting.

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This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome.

Research

Gratitude has consistently been associated with various beneficial health-related outcomes, including subjective wellbeing, positive mental health, and positive physical health. In light of such effects, positive psychology researchers and practitioners have often implemented gratitude interventions in an attempt to build individuals' orientations toward appreciation and thankfulness. Recent meta-analyses and reviews have revealed, however, that these interventions often have mixed effects on gratitude or other health outcomes. 

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Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype.

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The mitogen-activated protein kinase (MAPK) pathway signaling pathway is one of the most commonly mutated pathways in human cancers. In particular, BRAF alterations result in constitutive activation of the rapidly accelerating fibrosarcoma-extracellular signal-regulated kinase-MAPK significant pathway, leading to cellular proliferation, survival, and dedifferentiation.

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High-risk childhood leukemia has a poor prognosis because of treatment failure and toxic side effects of therapy. Drug encapsulation into liposomal nanocarriers has shown clinical success at improving biodistribution and tolerability of chemotherapy. However, enhancements in drug efficacy have been limited because of a lack of selectivity of the liposomal formulations for the cancer cells.

Research

Meeting 24-h movement behavior guidelines for the early years is associated with better health and development outcomes in young children. Early childhood education and care (ECEC) is a key intervention setting however little is known about the content and implementation of movement behavior polices in this context. To inform policy development this international scoping review examined the prevalence, content, development and implementation of ECEC-specific movement behavior policies.