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A multi-institutional retrospective pooled outcome analysis of molecularly annotated pediatric supratentorial ZFTA-fused ependymomaZFTA-RELA (formerly known as c11orf-RELA) fused supratentorial ependymoma has been recognized as a novel entity in the 2016 WHO classification of CNS tumors and further defined in the recent 2021 edition.
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disaggregation: An R Package for Bayesian Spatial Disaggregation ModelingDisaggregation modeling, or downscaling, has become an important discipline in epidemiology. Surveillance data, aggregated over large regions, is becoming more common, leading to an increasing demand for modeling frameworks that can deal with this data to understand spatial patterns.
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Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic VariantsBirk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.
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CGM accuracy: Contrasting CE marking with the governmental controls of the USA (FDA) and Australia (TGA): A narrative reviewThe National Institute for Clinical Excellence updated guidance for continuous glucose monitoring (CGM) in 2022, recommending that CGM be available to all people living with type 1 diabetes. Manufacturers can trade in the UK with Conformité Européenne (CE) marking without an initial national assessment. The regulatory process for CGM CE marking, in contrast to the Food and Drug Administration (FDA) and Australian Therapeutic Goods Administration (TGA) process, is described.
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The impact of weather on time allocation to physical activity and sleep of child-parent dyadsPrevious studies showed that unfavourable weather conditions discourage physical activity. However, it remains unclear whether unfavourable weather conditions have a differential impact on physical activity in children compared with adults.
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The association between otitis media in early childhood with later behaviour and attention problems: A longitudinal pregnancy cohortThe present study aims to investigate the association between an early history of recurrent otitis media (OM) with or without ventilation tube insertion and later behavioural problems in childhood and adolescence.
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Estimated Therapy Costs and Downstream Cost Consequences of iBASIS-Video Interaction to Promote Positive Parenting Intervention vs Usual Care Among Children Displaying Early Behavioral Signs of Autism in AustraliaThe growing global prevalence of autism spectrum disorder is associated with increasing costs for support services. Ascertaining the effects of a successful preemptive intervention for infants showing early behavioral signs of autism on human services budgets is highly policy relevant.
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Assessing Restricted and Repetitive Behaviours in Online-Sampled Autistic and Non-autistic Individuals: Factor Structure of the Repetitive Behaviours Questionnaire for Adults (RBQ-2A)The Repetitive Behaviours Questionnaire for Adults (RBQ-2A) measures two factors of restricted and repetitive behaviours (RRBs) associated with autism. However, the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) provides four criteria for RRBs: repetitive motor behaviours, insistence on sameness, restricted interests, and interest in sensory aspects of the environment (or atypical sensitivity).
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Immunosuppressive mechanisms of oncofetal reprogramming in the tumor microenvironment: implications in immunotherapy responseBoth fetal and tumor tissue microenvironments display immunosuppressive features characterized by the presence of specific immunomodulatory stromal and immune cell populations. Recently, we discovered shared microenvironments between hepatocellular carcinoma and fetal tissues and described this phenomenon as an oncofetal ecosystem.
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The effectiveness of a day hospital mentalization-based therapy programme for adolescents with borderline personality traits: Findings from Touchstone—Child and Adolescent Mental Health ServiceIndividuals with borderline personality disorder (BPD) are at a substantial risk of harm to themselves and others, experience high levels of functional impairment and typically are high users of tertiary healthcare to address their mental health concerns. As indicators for BPD typically emerge in adolescence, a day therapy service in Bentley, Western Australia, Touchstone Child and Adolescent Mental Health Service (CAMHS), was developed as an intensive intervention for adolescents with indicators for BPD and its associated symptomology.