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Research
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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The bone marrow microenvironment of pre-B acute lymphoblastic leukemia at single-cell resolutionThe bone marrow microenvironment plays a key role in leukemia progression, but its molecular complexity in pre-B cell acute lymphoblastic leukemia (B-ALL), the most common cancer in children, remains poorly understood. To gain further insight, we used single-cell RNA sequencing to characterize the kinetics of the murine BMM during B-ALL progression.
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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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A pilot study of disease related education and psychotherapeutic support for unresolved grief in parents of children with CFDiagnosis of chronic disease in a child can result in unresolved grief (UG) in parents. This study aimed to evaluate the efficacy of psychological insight-oriented therapy (IOT) as a treatment for UG compared to disease related education in parents of children with cystic fibrosis. Sequence of delivery, first IOT then disease related education (or vice versa) was also examined, to let all participants experience both interventions.
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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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Developmental regulation of type 1 and type 3 interferon production and risk for infant infections and asthma developmentType 1 and 3 interferon response capacity appears strongly developmentally constrained at birth
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Assessment of on-time vaccination coverage in population subgroups: A record linkage cohort studyOn-time coverage of the 2-4-6 month schedule is only 50-60% across specific population subgroups representing a significant avoidable public health risk
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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.
Research
Maternal immune-related conditions during pregnancy may be a risk factor for neuropsychiatric problems in offspring throughout childhood and adolescenceEmerging research suggests that maternal immune activation (MIA) may be associated with an increased risk of adverse neurodevelopmental and mental health outcomes in offspring. Using data from the Raine Study, we investigated whether MIA during pregnancy was associated with increased behavioral and emotional problems in offspring longitudinally across development.
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Retinal differential light sensitivity variation across the macula in healthy subjects: Importance of cone separation and loci eccentricityMicroperimetry measures differential light sensitivity (DLS) at specific retinal locations. The aim of this study is to examine the variation in DLS across the macula and the contribution to this variation of cone distribution metrics and retinal eccentricity.