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Clinical phenotypes and prognostic features of embryonal tumours with multi-layered rosettes: a Rare Brain Tumor Registry studyEmbryonal tumours with multi-layered rosettes (ETMRs) are a newly recognised, rare paediatric brain tumour with alterations of the C19MC microRNA locus. Due to varied diagnostic practices and scarce clinical data, disease features and determinants of outcomes for these tumours are poorly defined. We did an integrated clinicopathological and molecular analysis of primary ETMRs to define clinical phenotypes, and to identify prognostic factors of survival and key treatment modalities for this orphan disease.
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Use of administrative record linkage to examine patterns of universal early childhood health and education service use from birth to Kindergarten (age 4 years) and developmental vulnerability in the Preparatory Year (age 5 years) in Tasmania, AustraliaIn Australia, the health and education sectors provide universal early childhood services for the same population of children. Therefore, there is a strong imperative to view service use and outcomes through a cross-sectoral lens to better understand and address the service needs of young children and their families.
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Twenty years of integrated disease surveillance and response in Sub-Saharan Africa: challenges and opportunities for effective management of infectious disease epidemicsThis systematic review aimed to analyse the performance of the Integrated Disease Surveillance and Response strategy in Sub-Saharan Africa and how its implementation has embraced advancement in information technology, big data analytics techniques and wealth of data sources.
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Personal network inference unveils heterogeneous immune response patterns to viral infection in children with acute wheezingHuman rhinovirus (RV)-induced exacerbations of asthma and wheeze are a major cause of emergency room presentations and hospital admissions among children. Previous studies have shown that immune response patterns during these exacerbations are heterogeneous and are characterized by the presence or absence of robust interferon responses.
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Evaluation of protocol amendments to the Environmental Determinants of Islet Autoimmunity (ENDIA) study during the COVID-19 pandemicLiz Davis MBBS FRACP PhD Co-director of Children’s Diabetes Centre Co-director of Children’s Diabetes Centre Professor Davis is a paediatric
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Spitz Melanoma of Childhood With A Novel Promoter Hijacking Anaplastic Lymphoma Kinase (C2orf42-ALK) RearrangementWe present the case of a prepubescent man of African descent who developed a spitzoid melanocytic proliferation showing evidence of a novel promoter hijacking ALK-C2orf42 rearrangement, with atypical histology, clinically apparent metastatic disease, and abnormal cytogenetic findings, representing a rare genuine case of "Spitz melanoma of childhood."
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The Utility of Natural Language Samples for Assessing Communication and Language in Infants Referred with Early Signs of AutismNatural Language Sampling (NLS) offers clear potential for communication and language assessment, where other data might be difficult to interpret. We leveraged existing primary data for 18-month-olds showing early signs of autism, to examine the reliability and concurrent construct validity of NLS-derived measures coded from video-of child language, parent linguistic input, and dyadic balance of communicative interaction-against standardised assessment scores. Using Systematic Analysis of Language Transcripts (SALT) software and coding conventions, masked coders achieved good-to-excellent inter-rater agreement across all measures.
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Factors influencing participation in home, school, and community settings by children and adolescents with neuromuscular disorders: A qualitative descriptive studyThis study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation.
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Real world impact of 13vPCV in preventing invasive pneumococcal pneumonia in Australian children: A national studyWe aimed to assess the direct protective effect of 13 valent pneumococcal conjugate vaccine (13vPCV) against invasive pneumococcal pneumonia (IPP; including pneumonia and empyema) in children using a nation-wide case-control study across 11 paediatric tertiary hospitals in Australia.
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Parental Challenges, Facilitators and Needs Associated with Supporting and Accepting Their Trans Child’s GenderParental support is strongly correlated with protective factors for trans youth yet most experience parental rejection or ambivalence regarding their gender. Many parents report a desire to support their child but indicate lack of understanding and support as key barriers. We aimed to develop a nuanced understanding of the challenges and facilitators experienced by Australian parents in developing understanding, support and acceptance of their child’s gender and their needs to do so.