Surfactant dysfunction is a genetically heterogeneous pulmonary disease that causes dyspnea. ATP binding cassette protein transporter subunit A3 (ABCA3) is the main pathogenic gene of pulmonary surfactant dysfunction. In this study, we established an induced pluripotent stem cell line (SMCPGHi001-A) from the peripheral blood cells of a 49-day-old male infant, carrying compound heterozygous variations of the ABCA3 gene (c.3997_3998del, p.R1333fs, and c.3137C > T, p.A1046V). This iPSC line would be a useful tool to study the pathogenesis, disease development, and treatment of pulmonary surfactant dysfunction.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.scr.2021.102286 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Surfactant protein levels and genetic variants as biomarkers for COVID-19 severity in children.
Am J Physiol Lung Cell Mol Physiol
January 2025
Department of Pediatrics, The Pennsylvania State College of Medicine, Hershey, PA, USA.
Since its outbreak, the novel coronavirus (COVID-19) has significantly impacted the pediatric population. Pulmonary surfactant dysfunction has been linked to other respiratory diseases in children and COVID-19 in adults, but its role in COVID-19 severity remains unclear. We hypothesized that elevated surfactant protein (SP) levels and single nucleotide polymorphisms (SNPs) of SP genes are associated with severe COVID-19 in children.
View Article and Find Full Text PDFBronchoscopic lung lavage and exogenous surfactant successfully reverse respiratory failure after severe chlorine exposure: A pediatric case report.
Clin Case Rep
January 2025
Pediatric Intensive Care Unit, Department of Maternal and Child Health and Urological Sciences Sapienza University of Rome Rome Italy.
Key Clinical Message: Although the symptoms of accidental chlorine inhalation are typically mild, severe exposure can result in acute respiratory distress syndrome (ARDS). We present a case of pediatric ARDS due to chlorine exposure in which lung lavage and exogenous surfactant were successful in avoiding more invasive and costly treatments.
Abstract: Chlorine inhalation as a result of swimming pool chlorination accidents is relatively common.
Experiments and modelling of pulmonary surfactant disruption by aerosolised compounds.
Colloids Surf B Biointerfaces
April 2025
The National Research Centre for the Working Environment, Lersø Parkallé 105, Copenhagen DK-2100, Denmark. Electronic address:
Within the deep lung, pulmonary surfactant coats the air-liquid interface at the surface of the alveoli. This complex mixture of amphiphilic molecules and proteins modifies the surface tension and mechanical properties of this interface to assist with breathing. In this study, we examine the effects on pulmonary surfactant function by two industrially used compounds composing surfactants and polymers.
View Article and Find Full Text PDFEffect of perioperative sigh ventilation on postoperative hypoxemia and pulmonary complications after on-pump cardiac surgery (E-SIGHT): study protocol for a randomized controlled trial.
Trials
September 2024
Jiangsu Provincial Key Laboratory of Critical Care Medicine, Department of Critical Care Medicine, Zhongda Hospital, School of Medicine, Southeast University, Nanjing, 210009, China.
Background: Postoperative hypoxemia and pulmonary complications remain a frequent event after on-pump cardiac surgery and mostly characterized by pulmonary atelectasis. Surfactant dysfunction or hyposecretion happens prior to atelectasis formation, and sigh represents the strongest stimulus for surfactant secretion. The role of sigh breaths added to conventional lung protective ventilation in reducing postoperative hypoxemia and pulmonary complications among cardiac surgery is unknown.
View Article and Find Full Text PDFThe Clinical Approach to Interstitial Lung Disease in Childhood: A Narrative Review Article.
Children (Basel)
July 2024
Department of Paediatrics and Adolescent Medicine, Faculty of Medicine, Pavol Jozef Šafárik University, 040 01 Kosice, Slovakia.
Interstitial lung disease (ILD) comprises a group of respiratory diseases affecting the interstitium of the lungs, which occur when a lung injury triggers an abnormal healing response, and an inflammatory process leads to altered diffusion and restrictive respiratory dysfunction. The term "interstitial" may be misleading, as other components of the lungs are usually also involved (epithelium, airways, endothelium, and so on). Pediatric conditions (childhood interstitial lung disease, chILD) are different from adult forms, as growing and developing lungs are affected and more diverse and less prevalent diseases are seen in childhood.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!