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Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndromeRett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children.
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BAL Inflammatory Markers Can Predict Pulmonary Exacerbations in Children With Cystic FibrosisPulmonary exacerbations in cystic fibrosis are characterized by airway inflammation and may cause irreversible lung damage. Early identification of such exacerbations may facilitate early initiation of treatment, thereby potentially reducing long-term morbidity. Research question: Is it possible to predict pulmonary exacerbations in children with cystic fibrosis, using inflammatory markers obtained from BAL fluid?
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Survival of children and adolescents with intellectual disability following gastrostomy insertionWhilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time
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Ovalbumin in breast milk is associated with a decreased risk of IgE-mediated egg allergy in childrenShowed for the first time that the presence of an egg-derived allergen in breast milk is associated with a reduced risk of egg allergy in children at 2.5 years of age
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Causes and Clinical Features of Childhood Encephalitis: A Multicenter, Prospective Cohort StudyEpidemic viral infections predominated as causes of childhood encephalitis in Australia. The leading causes include vaccine-preventable diseases
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Assessing the unified airway hypothesis in children via transcriptional profiling of the airway epitheliumUpper and lower airways are conserved in their transcriptional composition, and variations associated with disease are present in both nasal and tracheal epithelium
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Interaction between filaggrin mutations and neonatal cat exposure in atopic dermatitisRecent birth cohort studies showed a significant interaction between cat ownership at birth and mutations in FLG on the development of early‐onset atopic dermatitis
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Plasma cytokine profiles in very preterm infants with late-onset sepsisVery preterm infants have a marked innate inflammatory response at the time of late-onset sepsis
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ApoB48-Lipoproteins Are Associated with Cardiometabolic Risk in AdolescentsAdolescents with polycystic ovary syndrome (PCOS) have increased incidence of cardiometabolic risk factors including dyslipidemia. Atherogenic apolipoprotein (apo) B-lipoprotein remnants are associated with increased cardiovascular disease (CVD) risk.
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Quantification of glucose-6-phosphate dehydrogenase activity by spectrophotometry: A systematic review and meta-analysisOur findings indicate that there is substantial variation in glucose-6-phosphate dehydrogenase measurements by spectrophotometry between sites