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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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Core protocol for the adaptive Platform Trial In COVID-19 Vaccine priming and BOOsting (PICOBOO)The need for coronavirus 2019 (COVID-19) vaccination in different age groups and populations is a subject of great uncertainty and an ongoing global debate. Critical knowledge gaps regarding COVID-19 vaccination include the duration of protection offered by different priming and booster vaccination regimens in different populations, including homologous or heterologous schedules.
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Evaluation of the implementation and clinical effects of an intervention to improve medical follow-up and health outcomes for Aboriginal children hospitalised with chest infectionsAboriginal children hospitalised with acute lower respiratory infections (ALRIs) are at-risk of developing bronchiectasis, which can progress from untreated protracted bacterial bronchitis, often evidenced by a chronic (>4 weeks) wet cough following discharge. We aimed to facilitate follow-up for Aboriginal children hospitalised with ALRIs to provide optimal management and improve their respiratory health outcomes.
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Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncologyThe large diversity of central nervous system (CNS) tumor types in children and adolescents results in disparate patient outcomes and renders accurate diagnosis challenging. In this study, we prospectively integrated DNA methylation profiling and targeted gene panel sequencing with blinded neuropathological reference diagnostics for a population-based cohort of more than 1,200 newly diagnosed pediatric patients with CNS tumors, to assess their utility in routine neuropathology.
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Probiotic supplementation in neonates and long-term gut colonisation: A systematic review of randomised controlled trialsProbiotic supplementation in the neonatal period results in improved gut colonisation with probiotic bacteria in the short term. There is limited information on the long-term sustainability of this colonisation.
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Safeguarding youth sexual and reproductive health and rights in the context of increasing climate-related disasters in the Pacific: A scoping review of policies and responsesPacific youth (15–24 years) experience multiple challenges to realising their sexual and reproductive health and rights (SRHR). Climate-related disasters compound pre-existing social and health inequities, including for youth SRHR. Meaningful youth engagement is crucial to understand their risks and inform inclusive disaster responses.
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It is more “unbalanced” than you thinkSébastien Malinge PhD Laboratory Head, Translational Genomics in Leukaemia, Ursula Kees Fellow (CCRF), Cancer Council WA Fellow (CCWA), Senior
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Exploring the Reported Strengths and Limitations of Aboriginal and Torres Strait Islander Health Research: A Narrative Review of Intervention StudiesHigh quality intervention research is needed to inform evidence-based practice and policy for Aboriginal and Torres Strait Islander communities. We searched for studies published from 2008-2020 in the PubMed database. A narrative review of intervention literature was conducted, where we identified researcher reported strengths and limitations of their research practice.
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WALLABY Pilot Survey: H i gas kinematics of galaxy pairs in cluster environmentWe examine the H i gas kinematics of galaxy pairs in two clusters and a group using Australian Square Kilometre Array Pathfinder (ASKAP) WALLABY pilot survey observations. We compare the H i properties of galaxy pair candidates in the Hydra I and Norma clusters, and the NGC 4636 group, with those of non-paired control galaxies selected in the same fields.
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Thoracic Society of Australia and New Zealand (TSANZ) position statement on chronic suppurative lung disease and bronchiectasis in children, adolescents and adults in Australia and New ZealandThis position statement, updated from the 2015 guidelines for managing Australian and New Zealand children/adolescents and adults with chronic suppurative lung disease (CSLD) and bronchiectasis, resulted from systematic literature searches by a multi-disciplinary team that included consumers.