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Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoeaWe report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L
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Upper Airway Cell Transcriptomics Identify a Major New Immunological Phenotype with Strong Clinical Correlates in Young Children with Acute WheezingAsthma exacerbations in children can be divided into IRF7hi versus IRF7lo phenotypes with associated differences in clinical phenotypes
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Epigenome-wide meta-analysis of DNA methylation and childhood asthmaNovel loci differentially methylated in newborns represent potential biomarkers of risk of asthma by school age
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Evening and night work schedules and children's social and emotional well-beingThe findings show that both mothers’ and fathers’ evening and night work schedules are linked to an increase in children's externalizing and internalizing behavior
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Dysfunctional gut microbiome networks in childhood ige‐mediated food allergyThe development of food allergy has been reported to be related with the changes in the gut microbiome, however the specific microbe associated with the pathogenesis of food allergy remains elusive. This study aimed to comprehensively characterize the gut microbiome and identify individual or group gut microbes relating to food-allergy using 16S rRNA gene sequencing with network analysis.
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Using Hawkes Processes to model imported and local malaria cases in near-elimination settingsDeveloping new methods for modelling infectious diseases outbreaks is important for monitoring transmission and developing policy. In this paper we propose using semi-mechanistic Hawkes Processes for modelling malaria transmission in near-elimination settings. Hawkes Processes are well founded mathematical methods that enable us to combine the benefits of both statistical and mechanistic models to recreate and forecast disease transmission beyond just malaria outbreak scenarios.
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Variation in nutrition education practices in SWEET pediatric diabetes centers-an international comparisonNutrition education is central to pediatric type 1 diabetes management. Dietary management guidelines for type 1 diabetes are evidence based, but implementation may be challenging and inconsistent.
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Gender differences in the experience of psychotic-like experiences and their associated factors: A study of adolescents from the general population"Psychotic-Like Experiences" (PLEs) are common in the general population. While they are usually transient and resolve spontaneously, they can be distressing and signify increased risk for later psychosis or other psychopathology. It is important to investigate factors associated with PLEs which could be targeted to reduce their prevalence and impact. Males and females are known to experience PLEs differently, but any gender differences in the relationships between PLEs and other, potentially targetable, factors are currently unknown.
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The Human Phenotype Ontology in 2021The Human Phenotype Ontology was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas.
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The Development and Feasibility of a Manualised Therapeutic Playgroup for Children with Developmental DelayPlaygroups are widely used throughout the Australian community yet understanding of their efficacy is hindered by inconsistent playgroup definitions and practice principles. This study aimed to develop, implement and evaluate the feasibility of a manualised therapeutic playgroup for children with developmental delay and their families using a three step process.