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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.
Research question: Are asthma and allergies more common in adolescents conceived with assisted reproductive technologies (ART) compared with adolescents conceived without?
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.
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.
Lung damage in children with CF occurs much earlier than previously thought, and proving this is related to the decline that occurs later will create new paradigms for prevention and treatment.
Infants with cystic fibrosis (CF) develop structural lung disease early in life, and viral infections are associated with progressive lung disease. We hypothesized that the presence of respiratory viruses would be associated with structural lung disease on computed tomography (CT) of the chest in infants with CF.
There is growing evidence that lung function in early-life predicts later lung function. Adverse events over the lifespan might influence an individual’s lung function trajectory, resulting in poor respiratory health. The aim of this study is to identify early-life risk factors and their impact on lung function trajectories to prevent long-term lung impairments.
Individuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing, or the duration of sleep.
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.
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;