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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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Digital RNase Footprinting of RNA-Protein Complexes and Ribosomes in MitochondriaRNA-binding proteins and mitochondrial ribosomes have been found to be linchpins of mitochondrial gene expression in health and disease. The expanding repertoire of proteins that bind and regulate the mitochondrial transcriptome has necessitated the development of new tools and methods to examine their molecular functions.
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Acceptability of integrating traditional tuberculosis care with modern healthcare services in the Amhara Regional State of Northwest Ethiopia: A qualitative studyMany people with tuberculosis (TB) rely solely on traditional healthcare services. Integrating traditional healthcare with modern healthcare services can increase access, quality, continuity, consumer satisfaction, and efficiency. However, successful integration of traditional healthcare with modern healthcare services requires stakeholder acceptance.
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Gut Microbiome and Associated Metabolites Following Bariatric Surgery and Comparison to Healthy ControlsThe gut microbiome plays a significant role in regulating the host’s ability to store fat, which impacts the development of obesity. This observational cohort study recruited obese adult men and women scheduled to undergo sleeve gastrectomy and followed up with them 6 months post-surgery to analyse their microbial taxonomic profiles and associated metabolites in comparison to a healthy control group.
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Identification of fatty acid amide hydrolase as a metastasis suppressor in breast cancerClinical management of breast cancer (BC) metastasis remains an unmet need as it accounts for 90% of BC-associated mortality. Although the luminal subtype, which represents >70% of BC cases, is generally associated with a favorable outcome, it is susceptible to metastatic relapse as late as 15 years after treatment discontinuation.
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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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Respiratory Health Effects of In Vivo Sub-Chronic Diesel and Biodiesel Exhaust ExposureBiodiesel, which can be made from a variety of natural oils, is currently promoted as a sustainable, healthier replacement for commercial mineral diesel despite little experimental data supporting this. The aim of our research was to investigate the health impacts of exposure to exhaust generated by the combustion of diesel and two different biodiesels.
Research
Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based studyUnderstanding hospital service use among children with a diagnosis of craniosynostosis is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia.