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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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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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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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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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Western Australia Paediatric Bronchiectasis CohortBronchiectasis is a chronic lung disease that impairs quality of life and reduces life expectancy.
Research into the potential health impacts of vaping is starting to back up concerns that electronic cigarettes (e-cigarettes) are not as benign as many people think.
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Prematurity-associated lung disease: is it asthma?Shannon Elizabeth Simpson Smith SS ES BMedSci (hons), PhD PhD, MSc, BSc Co-Head, Children's Lung Health; Senior Research Fellow Program Manager 08
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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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Normal values of respiratory oscillometry in South African children and adolescentsNoninvasive measurement of respiratory impedance by oscillometry can be used in young children aged from 3 years and those unable to perform forced respiratory manoeuvres. It can discriminate between healthy children and those with respiratory disease. However, its clinical application is limited by the lack of reference data for African paediatric populations. The aim of the present study was to develop reference equations for oscillometry outcomes in South African children and adolescents.