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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.
The PELICAN (Prematurity’s Effects on the Lungs in Children and Adults Network) Clinical Research Collaboration was launched by the European Respiratory Society (ERS) in 2020
Cystic fibrosis is an inherited condition that results in chronic lung disease. In recent years, a new type of medication called CFTR modulators has become available.
Bronchiectasis is a chronic lung disease that impairs quality of life and reduces life expectancy.
Dissociative symptoms are linked to experiences of trauma, often originating in childhood and adolescence. Dissociative disorders are associated with a high burden of illness and a poor quality of life. Despite evidence suggesting that early intervention can improve outcomes, little research exists on the treatment of dissociative disorders in childhood and adolescence.
Preterm birth is associated with lifelong respiratory sequelae, yet our understanding of lung function trajectories across the lifespan remains limited. We aimed to identify patterns of spirometry development from childhood to early adulthood in survivors of very preterm birth using novel data-driven methods.
Citation: Evans DJ, D Sly PD, Foster P, Donovan C. Who gets asthma, and why? Med J Aust. 2025;223(S10):S19-S23. Keywords: Asthma; Lung diseases;
Limited evidence suggests that airway epithelial structure and function is disrupted in very preterm infants; however, the epithelial morphology and physiology has not been well characterised following discharge from neonatal intensive care. This study aimed to characterise the nasal airway epithelium from 1-year-old survivors of very preterm birth.
Many survivors of preterm birth (<37 weeks gestation) have lifelong respiratory deficits, the drivers of which remain unknown. Influencers of pathophysiological outcomes are often detectable at the gene level and pinpointing these differences can help guide targeted research and interventions. This study provides the first transcriptomic analysis of primary nasal airway epithelial cells in survivors of preterm birth at approximately 1 year of age.
Early life is a key period that determines long-term health. Lung development in childhood predicts lung function attained in adulthood and morbidity and mortality across the life course. We aimed to assess the effect of early-life lower respiratory tract infection (LRTI) and associated risk factors on lung development from birth to school age in a South African birth cohort.