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Expanding the clinical picture of the MECP2 Duplication syndromePeople with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.
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Family structure and childhood mental disorders: new findings from AustraliaThis report provides new evidence of the relationships between family structure and childhood mental disorders in an under-researched context, Australia
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Investigating the relationship between environmental factors and respiratory health outcomes in school children using the forced oscillation techniqueThe significance of both indoor and outdoor sources of air pollution and effect modifiers such as green space and heating require further investigation
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Rhinovirus C is associated with wheezing and rhinovirus A is associated with pneumonia in hospitalized children in MoroccoWe aimed to describe the distribution of RV species and associations between RV species and clinical features in children hospitalized with clinically severe pneumonia in Morocco
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Identification and characterization of a dendritic cell precursor in parenchymal lung tissueThis is the first study to describe a pulmonary precursor cell for dendritic cells in lung tissue
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Endocrine and metabolic consequences due to restrictive carbohydrate diets in children with type 1 diabetes: An illustrative case seriesWe describe a series of 6 cases where adoption of a low carbohydrate diet in children impacted growth and cardiovascular risk factors with potential long-term sequelae.
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Official ERS technical standard: Global Lung Function Initiative reference values for static lung volumes in individuals of European ancestryMeasurement of lung volumes across the life course is critical to the diagnosis and management of lung disease. The aim of the study was to use the Global Lung Function Initiative methodology to develop all-age multi-ethnic reference equations for lung volume indices determined using body plethysmography and gas dilution techniques.
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RUNX2 regulates leukemic cell metabolism and chemotaxis in high-risk T cell acute lymphoblastic leukemiaT cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematologic malignancy with inferior outcome compared with that of B cell ALL. Here, we show that Runt-related transcription factor 2 (RUNX2) was upregulated in high-risk T-ALL with KMT2A rearrangements (KMT2A-R) or an immature immunophenotype. In KMT2A-R cells, we identified RUNX2 as a direct target of the KMT2A chimeras, where it reciprocally bound the KMT2A promoter, establishing a regulatory feed-forward mechanism.
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The Comprehensive Autistic Trait Inventory (CATI): development and validation of a new measure of autistic traits in the general populationTraits and characteristics qualitatively similar to those seen in diagnosed autism spectrum disorder can be found to varying degrees in the general population. To measure these traits and facilitate their use in autism research, several questionnaires have been developed that provide broad measures of autistic traits [e.g. Autism-Spectrum Quotient (AQ), Broad Autism Phenotype Questionnaire (BAPQ)]. However, since their development, our understanding of autism has grown considerably, and it is arguable that existing measures do not provide an ideal representation of the trait dimensions currently associated with autism. Our aim was to create a new measure of autistic traits that reflects our current understanding of autism, the Comprehensive Autism Trait Inventory (CATI).
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Occurrence and timely management of problems requiring prompt intervention among Indigenous compared with non-Indigenous Australian palliative care patients: A multijurisdictional cohort studyAnticipation and prompt relief of symptoms among patients with a life-limiting illness is a core element of palliative care. Indigenous Australians commonly encounter cultural barriers in healthcare that may impair outcomes. The Palliative Care Outcomes Collaboration collects patient care data for the purposes of continuous quality improvement and benchmarking, with each recorded care episode divided into phases that reflect a patient's condition.