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A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
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Addressing Race in Pulmonary Function Testing by Aligning Intent and Evidence With Practice and PerceptionThe practice of using race or ethnicity in medicine to explain differences between individuals is being called into question because it may contribute to biased medical care and research that perpetuates health disparities and structural racism.
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Lung inflammation and simulated airway resistance in infants with cystic fibrosisCystic fibrosis (CF) is characterized by small airway disease; but central airways may also be affected. We hypothesized that airway resistance estimated from computational fluid dynamic (CFD) methodology in infants with CF was higher than controls and that early airway inflammation in infants with CF is associated with airway resistance.
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Parent Carer Quality of Life and Night-Time Attendance in Non-Ambulant Youth with Neuromuscular DisordersTo describe and explore carer quality of life and night-time attendance to their child in parents of non-ambulant youth with Neuromuscular Disorders. A cross-sectional population-based, comprehensive survey including the Adult Carer questionnaire, measures of social context and youths' physical status. Associations between carer-QoL or frequency of parents' night-time attendance with independent variables were explored using linear and logistic regression models, respectively.
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Long-term medical and psychosocial outcomes in congenital diaphragmatic hernia survivorsSurvivors of CDH may have significant adverse long-term medical and psychosocial issues that would be better recognised and managed in a multidisciplinary clinic
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The impact of respiratory viruses on lung health after preterm birthThe aim of this review is to highlight the risk factors that may contribute to increased susceptibility to viral respiratory infections among preterm infants
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A prospective audit of pain profiles following general and urological surgery in childrenTo determine the duration and severity of acute postoperative pain experienced by children undergoing 8 different general and urological procedures.
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The effect of endotracheal tubes versus laryngeal mask airways on perioperative respiratory adverse events in infants: A randomised controlled trialEvaluating the difference of the effects of Laryngeal mask airways compared to endotracheal tubes in older children (>1 year) in incidents of PRAE in infants.
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Early lung surveillance of cystic fibrosis: what have we learnt?Newborn screening (NBS) for cystic fibrosis (CF) provides an opportunity to commence management and therapeutic interventions significantly earlier
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Respiratory function and symptoms in young preterm children in the contemporary eraPreterm children have worse lung function than healthy controls