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        Toward improved prediction of risk for atopy and asthma among preschoolers: A prospective cohort study

        Atopy and asthma are commonly initiated during early life, and there is increasing interest in the development of preventive treatments for at-risk children. ...

        Research

        Inner speech impairment in children with autism is associated with greater nonverbal than verbal skills

        We present a new analysis of Whitehouse, Maybery, and Durkin's (2006, Experiment 3) data on inner speech in children with autism (CWA). ...

        Research

        A systematic review of prevention interventions to reduce prenatal alcohol exposure and fetal alcohol spectrum disorder in Indigenous communities

        Liz Martyn Milne Symons E MS MPH PhD B.A. (Hons) PhD. Honorary Emeritus Fellow Honorary Research Associate 08 6319 1672 martyn.symons@telethonkids.org.au Honorary Emeritus Fellow Postdoctoral Researcher Liz is an epidemiologist specialising in the ...

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        Ear Portal: An ENT and Audiology referral portal for improving access to ear health services for children using telehealth

        Chris Deborah Peter Tanisha Greta Karina Brennan-Jones Lehmann Richmond Cayley Bernabei Tao C D PC TC GB KT PhD AO, MBBS, MSc MBBS MRCP(UK) FRACP BBiomed (Hons) BSc B.SpLPath&Aud, MClincAud, PhD Head, Ear Health Honorary Emeritus Fellow Head, ...

        Research

        Statistical considerations for the platform trial in COVID-19 vaccine priming and boosting

        The Platform trial In COVID-19 priming and BOOsting (PICOBOO) is a multi-site, adaptive platform trial designed to generate evidence of the immunogenicity, reactogenicity, and cross-protection of different booster vaccination strategies against severe acute respiratory syndrome coronavirus 2 and its variants, specific for the Australian context. ...

        Research

        Australian hospital paediatricians and nurses’ perspectives and practices for influenza vaccine delivery in children with medical comorbidities

        Influenza vaccination of children with medical comorbidities is critical due their increased risks for severe influenza disease. In Australia, hospitals are an avenue for influenza vaccine delivery to children with comorbidities but are not always effectively utilised. Qualitative enquiry sought to ascertainment the barriers and enablers for influenza vaccination recommendation, delivery, and recording of these children at Australian hospitals. ...

        Research

        A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

        MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000. ...

        Research

        CDKL5 deficiency disorder: clinical features, diagnosis, and management

        CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. ...

        Research

        Penicillin G concentrations required for prophylaxis against Group A Streptococcus infection evaluated using a hollow fibre model and mathematical modelling

        Acute rheumatic fever (ARF), an autoimmune reaction to Group A Streptococcus (Streptococcus pyogenes; Strep A) infection, can cause rheumatic heart disease (RHD). New formulations of long-acting penicillins are being developed for secondary prophylaxis of ARF and RHD. ...

        Research

        Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study

        There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance. ...

        Research

        Circulating Epithelial Cell Cytokines Are Associated With Early-Onset Atopic Dermatitis

        Debbie Susan Palmer Prescott D SL BSc BND PhD MBBS BMedSci PhD FRACP Head, Early Life & Life-Course Health Program; Team Lead, Nutrition in Early Life Honorary Research Fellow debbie.palmer@uwa.edu.au susan.prescott@telethonkids.org.au Head, Early ...

        Research

        Systematic In Vitro Evaluation of a Library of Approved and Pharmacologically Active Compounds for the Identification of Novel Candidate Drugs for KMT2A-Rearranged Leukemia

        Patients whose leukemias harbor a rearrangement of the Mixed Lineage Leukemia (MLL/KMT2A) gene have a poor prognosis, especially when the disease strikes in infants. The poor clinical outcome linked to this aggressive disease and the detrimental treatment side-effects, particularly in children, warrant the urgent development of more effective and cancer-selective therapeutics. ...

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