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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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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 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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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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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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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.
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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.