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A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromesHereditary cancer predisposition syndromes (HCPS) account for at least 10% of paediatric cancers.1 Li‐Fraumeni syndrome (LFS) is a dominant HCPS caused by mutations in the TP53 gene and is associated with an 80–90% lifetime risk of cancer, commencing in infancy.2 Children of affected individuals are at 50% risk of inheriting the family mutation.
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Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancerThe Zero Childhood Cancer Program is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumors from high-risk pediatric patients with cancer, we identified 968 reportable molecular aberrations.
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Clinician-rated quality of video otoscopy recordings and still images for the asynchronous assessment of middle-ear diseaseVideo otoscopy plays an important role in improving access to ear health services. This study investigated the clinician-rated quality of video otoscopy recordings and still images, and compared their suitability for asynchronous diagnosis of middle-ear disease. Two hundred and eighty video otoscopy image-recording pairs were collected from 150 children (aged six months to 15 years) by an ear, nose, and throat (ENT) specialist, audiologists, and trained research assistants, and independently rated by an audiologist and ENT surgeon.
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Type 2 diabetes in children and adolescents across Australia and New Zealand: A 6‐year audit from The Australasian Diabetes Data Network (ADDN)To assess the clinical and demographic characteristics of children and adolescents across Australia and New Zealand (NZ) with type 2 diabetes.
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Rheumatic heart disease in The Gambia: clinical and valvular aspects at presentation and evolution under penicillin prophylaxisRheumatic heart disease (RHD) remains the leading cause of cardiac-related deaths and disability in children and young adults worldwide. In The Gambia, the RHD burden is thought to be high although no data are available and no control programme is yet implemented. We conducted a pilot study to generate baseline data on the clinical and valvular characteristics of RHD patients at first presentation, adherence to penicillin prophylaxis and the evolution of lesions over time.
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Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndromeRett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials.
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COVID-19 in children: I. Epidemiology, prevention and indirect impactsChildren globally have been profoundly impacted by the coronavirus disease 2019 (COVID-19) pandemic. This review explores the direct and indirect public health impacts of COVID-19 on children. We discuss in detail the transmission dynamics, vaccination strategies and, importantly, the ‘shadow pandemic’, encompassing underappreciated indirect impacts of the pandemic on children.
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Examining prescribing, timeliness and data recording of immunisations onto a national electronic immunisation register for inpatients at a tertiary paediatric hospitalThe aim of this study was to investigate the quality and adherence of inpatient immunisation prescribing, as well as timeliness and recording of immunisations onto the national immunisation register, within a tertiary paediatric hospital setting. We conducted an observational, retrospective review of inpatient immunisations at Perth Children’s Hospital from July 2018 to February 2019.
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Phage therapy for multi-drug resistant respiratory tract infectionsThe emergence of multi-drug resistant (MDR) bacteria is recognised today as one of the greatest challenges to public health. As traditional antimicrobials are becoming ineffective and research into new antibiotics is diminishing, a number of alternative treatments for MDR bacteria have been receiving greater attention. Bacteriophage therapies are being revisited and present a promising opportunity to reduce the burden of bacterial infection in this post-antibiotic era.
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Brain-behavior links in autism spectrum disorder across the lifespanAndrew Videos Whitehouse Watch and listen to Andrew PhD Deputy Director (Research); Angela Wright Bennett Professor of Autism Research at The Kids