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Lung function is highly heritable and differs between the sexes throughout life. However, little is known about sexdifferential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females.
MECP2 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.
The 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.
A significant proportion of chronic obstructive pulmonary disease exacerbations are strongly associated with rhinovirus infection (HRV). In this study, we combined long-term cigarette smoke exposure with HRV infection in a mouse model.
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.
Respiratory disease is a leading cause of hospitalisations in children with cerebral palsy (CP). Over 40% of individuals with CP are born preterm; however, the relationship between prematurity, CP and respiratory disease is unknown.
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.
Right shift of the peripheral oxyhaemoglobin saturation (SpO2) versus inspired oxygen pressure (PIO2) curve is a sensitive marker of pulmonary gas exchange. The aim of this study was to assess the impact of prematurity and bronchopulmonary dysplasia (BPD) on gas exchange and right-to-left shunt in the neonatal period, and its evolution over the first year of life.
Exhaled breath condensate (EBC) collection is a non-invasive, safe method for measurement of biomarkers in patients with lung disease. Other methods of obtaining samples from the lungs, such as bronchoalveolar lavage, are invasive and require anaesthesia/sedation in neonates and infants. EBC is particularly appealing for assessing biomarkers in preterm-born infants, a population at risk of ongoing lung disease.
An estimated 15 million babies (∼11%) are born preterm each year (before 37 weeks of gestation), the rates of which are increasing worldwide. Enhanced perinatal care, including antenatal corticosteroids, postnatal surfactant and improved respiratory management, have markedly improved survival outcomes since the 1990s, particularly for babies born very preterm (<32 weeks gestation). However, long-term pulmonary sequelae are frequent in preterm survivors and ongoing clinical management is often required.