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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanismsCornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.
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Non-pharmacological interventions for autistic children: An umbrella reviewThe breadth of available non-pharmacological interventions for autistic children, with varying evidence for efficacy summarised in multiple systematic reviews, creates challenges for parents, practitioners, and policymakers in navigating the research evidence. In this article, we report the findings of an umbrella review of 58 systematic reviews of non-pharmacological interventions for autistic children (aged 0–12 years).
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Prospective longitudinal evaluation of treatment-related toxicity and health-related quality of life during the first year of treatment for pediatric acute lymphoblastic leukemiaPediatric acute lymphoblastic leukemia (ALL) therapy is accompanied by treatment-related toxicities (TRTs) and impaired quality of life. In Australia and New Zealand, children with ALL are treated with either Children's Oncology Group (COG) or international Berlin-Frankfurt-Munster (iBFM) Study Group-based therapy.
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Severe maternal morbidity following stillbirth in Western Australia 2000–2015: a population-based studyThere is scant literature about the management of stillbirth and the subsequent risk of severe maternal morbidity (SMM). We aimed to assess the risk of SMM associated with stillbirths compared with live births and whether this differed by the presence of maternal comorbidities.
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Effectiveness of 7-Valent Pneumococcal Conjugate Vaccine Against Invasive Pneumococcal Disease in Medically At-Risk Children in Australia: A Record Linkage StudyChildren with chronic medical conditions are at higher risk of invasive pneumococcal disease (IPD), but little is known about the effectiveness of the primary course of pneumococcal conjugate vaccine (PCV) in these children.
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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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Strengthening assessment and response to mental health needs for Aboriginal and Torres Strait Islander children and adolescents in primary care settings: study protocol for the Ngalaiya Boorai Gabara Budbut implementation projectOpportunities for improved mental health and wellbeing of Aboriginal and Torres Strait Islander children and young people lie in improving the capability of primary healthcare services to identify mental healthcare needs and respond in timely and appropriate ways.
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ALMA/ACA CO Survey of the IC 1459 and NGC 4636 Groups: Environmental Effects on the Molecular Gas of Group GalaxiesWe present new results of a 12CO(J = 1-0) imaging survey using the Atacama Compact Array (ACA) for 31 H i detected galaxies in the IC 1459 and NGC 4636 groups. This is the first CO imaging survey for loose galaxy groups.
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The Investigation of Health-Related Topics on TikTok: A Descriptive Study ProtocolThe social media application TikTok allows users to view and upload short-form videos. Recent evidence suggests it has significant potential for both industry and health promoters to influence public health behaviours. This protocol describes a standardised, replicable process for investigations that can be tailored to various areas of research interest, allowing comparison of content and features across public health topics.
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A pilot study to develop assessment tools for Group A Streptococcus surveillance studiesGroup A Streptococcus (GAS) causes pharyngitis (sore throat) and impetigo (skin sores) GAS pharyngitis triggers rheumatic fever (RF) with epidemiological evidence supporting that GAS impetigo may also trigger RF in Australian Aboriginal children. Understanding the concurrent burden of these superficial GAS infections is critical to RF prevention. This pilot study aimed to trial tools for concurrent surveillance of sore throats and skins sore for contemporary studies of RF pathogenesis including development of a sore throat checklist for Aboriginal families and pharynx photography.