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Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trialsCDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD).
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Key paediatric messages from the 2018 European Respiratory Society International CongressGroup Chairs and early career members highlight some of the most interesting findings in the field of paediatrics presented at the 2018 international ERS Congress
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Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohortThis is the first comprehensive study of maturity-onset diabetes of the young variants in an unselected population-based pediatric diabetes cohort
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Regular exposure to non-burning ultraviolet radiation reduces signs of non-alcoholic fatty liver disease in mature adult mice fed a high fat dietFrequent exposure to low levels of sunlight may reduce the severity of hepatic steatosis induced in older adults living in environments of high caloric intake
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Postvaccination Febrile Seizure Severity and OutcomeVaccine-proximate febrile seizures accounted for a small proportion of all febrile seizures hospital presentations
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Mucus accumulation in the lungs precedes structural changes and infection in children with cystic fibrosisThese findings indicate that early CF lung disease is characterized by an increased mucus burden and inflammatory markers without infection or structural lung disease
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Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweightWe find that DNA methylation in neonatal blood is associated with birthweight, with a difference in birthweight ranging from -183 to 178 grams per 10% increase in methylation
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Dendritic cells and cancer: From biology to therapeutic interventionIn this review, we discuss the different subsets of tumor-infiltrating dendritic cells and their role in anti-tumor immunity
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Benefits of caseload midwifery to prevent fetal alcohol spectrum disorder: A discussion paperDrawing on previous research, caseload midwifery has potential to support the prevention of fetal alcohol spectrum disorder through continuity of care
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Statistical Analysis Plan for "An international study of isoelectric electroencephalography events in infants and young children during anesthesia for surgery"This Statistical Analysis Plan details the statistical procedures to be applied for the analysis of data for the multicenter electroencephalography study