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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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A comparison of parent-reported and self-reported psychosocial function scores of the PedsQL for children with non-severe burnQuality of life of paediatric patients after burn injury is often assessed through parents who may score differently to their child. Non-severe burns are the most common type of burn injury in Western Australia, however, despite low severity and high survival rates, they can cause long term physical and psychosocial problems which need to be detected early in order to provide patients with optimal holistic care.
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The CoolCot trial: active methods of therapeutic hypothermia for newborns with hypoxic ischaemic encephalopathy during neonatal transport: a study protocol for a randomised controlled trialImpaired oxygen delivery or blood flow to the brain around the time of birth can cause injury. Hypoxic ischaemic encephalopathy is a leading cause of death and disability in term and near-term infants.
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Targeting intolerance of uncertainty in young children diagnosed with autism: A randomized controlled trial of a parent-mediated group interventionYoung children diagnosed with autism experience high rates of co-occurring anxiety, with uncertainty-related concerns commonly reported. This randomized controlled trial investigated an 8-week parent-mediated group anxiety intervention, “Coping with Uncertainty in Everyday Situations” (CUES-Junior©).
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Investigating associations between birth order and autism diagnostic phenotypesBirth order effects have been linked to variability in intelligence, educational attainment and sexual orientation. First- and later-born children have been linked to an increased likelihood of an Autism Spectrum Disorder (ASD) diagnosis, with a smaller body of evidence implicating decreases in cognitive functioning with increased birth order.
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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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Increasing incidence of malignant mesothelioma after exposure to asbestos during home maintenance and renovationThe objective of this study was to determine trends in incidence of malignant mesothelioma (MM) caused by exposure to asbestos during home maintenance and...
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Inflammatory responses to individual microorganisms in the lungs of children with cystic fibrosisWe hypothesized that the inflammatory response in the lungs of children with cystic fibrosis (CF) would vary with the type of infecting organism, being...
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Autism and intellectual disability are differentially related to sociodemographic background at birthWe used population data on Western Australian singletons born from 1984 to 1999 (n = 398,353) to examine the sociodemographic characteristics of children...
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Plasma versus serum levels of osteopontin and mesothelin in patients with malignant mesothelioma-Which is bestBlood-based markers for malignant mesothelioma (MM), particularly soluble mesothelin and osteopontin, are currently of great clinical interest.