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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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Early life predictors of obstructive sleep apnoea in young adults: Insights from a longitudinal community cohort (Raine study)Obstructive sleep apnea (OSA) increases the risk of perioperative adverse events in children. While polysomnography (PSG) remains the reference standard for OSA diagnosis, oximetry is a valuable screening tool. The traditional practice is the manual analysis of desaturation clusters derived from a tabletop device using the McGill oximetry score. However, automated analysis of wearable oximetry data can be an alternative. This study investigated the accuracy of wrist-worn oximetry with automated analysis as a preoperative OSA screening tool.
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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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Normative data for multiple breath washout outcomes in school-aged Caucasian childrenThe multiple breath nitrogen washout (N2MBW) technique is increasingly used to assess the degree of ventilation inhomogeneity in school-aged children with lung disease. However, reference values for healthy children are currently not available.
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Host-dependent resistance of Group A Streptococcus to sulfamethoxazole mediated by a horizontally-acquired reduced folate transporterDescribed antimicrobial resistance mechanisms enable bacteria to avoid the direct effects of antibiotics and can be monitored by in vitro susceptibility testing and genetic methods. Here we describe a mechanism of sulfamethoxazole resistance that requires a host metabolite for activity.
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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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Key paediatric messages from AmsterdamKey messages from the abstracts presented at the European Respiratory Society International Congress
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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
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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.