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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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Associations between the human immune system and gut microbiome with neurodevelopment in the first 5 years of life: A systematic scoping reviewThe aim of this review was to map the literature assessing associations between maternal or infant immune or gut microbiome biomarkers and child neurodevelopmental outcomes within the first 5 years of life. We conducted a PRISMA-ScR compliant review of peer-reviewed, English-language journal articles.
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How does the school built environment impact students’ bullying behaviour? A scoping reviewSchool bullying is a public health concern affecting the physical and mental health of children and young people. While school-based interventions to prevent bullying have been developed internationally, the effectiveness of many interventions has been mixed and modest.
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Factors influencing participation in home, school, and community settings by children and adolescents with neuromuscular disorders: A qualitative descriptive studyThis study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation.
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Real world impact of 13vPCV in preventing invasive pneumococcal pneumonia in Australian children: A national studyWe aimed to assess the direct protective effect of 13 valent pneumococcal conjugate vaccine (13vPCV) against invasive pneumococcal pneumonia (IPP; including pneumonia and empyema) in children using a nation-wide case-control study across 11 paediatric tertiary hospitals in Australia.
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An Evaluation of the Overall Utility of Measures of Functioning Suitable for School-Aged Children on the Autism Spectrum: A Scoping ReviewA diagnosis of an autism spectrum condition (autism) provides limited information regarding an individual’s level of functioning, information key in determining support and funding needs.
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Enhancing functional recovery for young people recovering from first episode psychosis via sport-based life skills training: outcomes of a feasibility and pilot studyEarly intervention within First Episode Psychosis (FEP) recovery efforts support functional recovery in several ways, including increasing levels of (1) physical activity (2) life skills, and (3) social connectivity. Sport has been proposed as an ideal platform to target these three goals simultaneously.
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What Heterogeneities in Individual-level Mobility Are Lost During Aggregation? Leveraging GPS Logger Data to Understand Fine-scale and Aggregated Patterns of MobilityHuman movement drives spatial transmission patterns of infectious diseases. Population-level mobility patterns are often quantified using aggregated data sets, such as census migration surveys or mobile phone data. These data are often unable to quantify individual-level travel patterns and lack the information needed to discern how mobility varies by demographic groups. Individual-level datasets can capture additional, more precise, aspects of mobility that may impact disease risk or transmission patterns and determine how mobility differs across cohorts; however, these data are rare, particularly in locations such as sub-Saharan Africa.
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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndromeIn 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.
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Anaesthesia related mortality data at a Tertiary Pediatric Hospital in Western AustraliaAnaesthesia related mortality in paediatrics is rare. There are limited data describing paediatric anaesthesia related mortality. This study determined the anaesthesia related mortality at a Tertiary Paediatric Hospital in Western Australia.