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People living with rare diseases had a high risk of negative health outcomes due to COVID-19. Pandemic preparedness will ensure best practice procedures and optimal outcomes during future pandemic events. This paper sought to understand the needs of children with rare diseases during the COVID-19 pandemic to inform preparation for future pandemic and disaster events. First, impacts and outcomes from the COVID-19 pandemic on people living with rare disease were identified in the literature.
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.
To evaluate the suitability of the Global Lung Function Initiative (GLI)-2012 other/mixed and GLI-2022 global reference equations for evaluating the respiratory capacity of First Nations Australians.
Despite a high burden of respiratory disease among infants globally, limited options exist for lung function testing in this age group. Tidal breathing techniques such as oscillometry allow for understanding the pathophysiology of diseases that originate early in life, thus providing the opportunity to develop timely prevention and treatment strategies.
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.
People born preterm (<37 weeks’ gestation) have lower peak oxygen consumption (peak VO2), a well-established indicator of long-term health outcomes, compared to term-born peers. However, responses to exercise can vary with exercise mode, which has implications for prognostic assessments.
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;
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.
André Schultz MBChB, PhD, FRACP Head, BREATH Team Head, BREATH Team Prof André Schultz is the Head, BREATH Team at The Kids Research Institute
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 genes supported by ≥2 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups.