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MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.
Functional studies of how early-life interventions shape the airway microbiome remain scarce. Here, we performed metagenomic sequencing of 704 longitudinal nasal swabs from infants with and without cystic fibrosis (CF) to construct and characterize a non-redundant gene atlas of the infant nasal microbiome. We aimed to determine how the nasal microbiome is perturbed by early therapies, as CF is commonly treated with inhaled hypertonic saline to improve mucociliary clearance.
Preterm birth is increasingly recognised as adversely influencing lifelong lung function. This Series paper on prematurity-associated lung disease reviews studies reporting longitudinal lung function measurements in individuals who were born preterm. Evidence suggests that preterm birth alters lung function trajectories from early life onwards, with implications for future respiratory morbidity. We propose that this population needs rigorous follow up that should include systematic monitoring of lung function across the lifespan, starting in childhood.
To better characterise prematurity-associated lung disease, adult spirometry phenotype classifications (obstructive lung disease, preserved ratio impaired spirometry and dysanapsis) have been applied to children born preterm. It is unknown how these phenotypes track over time.
The airway epithelium is the primary structural and functional airway barrier and orchestrates innate immunity. Some children may have underlying epithelial vulnerabilities that contribute to the pathogenesis of acute wheeze and asthma.
Children are particularly vulnerable to air pollution, but the effects of early life exposure to acute, high-intensity pollution on later lung function remain poorly understood. We assessed the association between prenatal or infant exposure to fire-related fine particulate matter (PM2.5) from a six-week coal mine fire and subsequent lung function.
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.
We aimed to ascertain the fit of the European Respiratory Society Global Lung Initiative 2012 reference ranges to contemporary Australasian spirometric data.
Prediction bias in spirometry reference equations can arise from combining equations for different age groups,...
In this review, we have examined the role of lung function testing in infants and preschool children with CF.