Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.24875/BMHIM.20000123 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Neonatal respiratory distress syndrome in E292V homozygous ABCA3.
BMJ Case Rep
October 2024
Pediatrics, Oregon Health & Science University, Portland, Oregon, USA.
We describe a late preterm neonate presenting with respiratory distress syndrome (RDS), homozygous for the E292V missense mutation in the ATP-binding cassette subfamily A, member 3 gene. The neonate improved with supportive care. The E292V variant is the most common mutation in ABCA3, which is essential in surfactant synthesis.
View Article and Find Full Text PDFc.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: A Family Case Study and Literature Review.
Biomedicines
October 2024
Department of Neonatology, George Emil Palade University of Medicine, Pharmacy, Science, and Technology, 540142 Targu Mures, Romania.
Respiratory distress syndrome (RDS) is the primary cause of respiratory failure in preterm infants, but it also affects 5-7% of term infants. Dysfunctions in pulmonary surfactant metabolism, resulting from mutations of the lung surfactant genes, are rare diseases, ranging from fatal neonatal RDS to interstitial lung disease, associated with increased morbidity and mortality. This study aims to clarify the clinical significance of ABCA3 variants found in a specific family case, as existing data in the literature are inconsistent.
View Article and Find Full Text PDFMutations in ABCA3 can result in surfactant deficiency, leading to respiratory distress syndrome in term neonates, and interstitial lung disease (ILD) in children. Here, we report an extremely rare case of ILD in an identical twin with novel ABCA3 germline mutations. Interestingly, they showed mostly similar, but slightly different, clinical features.
View Article and Find Full Text PDFThe formation of lamellar body-like structures may be a trigger of cetylpyridinium chloride-induced cell death and inflammatory response.
Toxicology
August 2024
Department of Biochemistry and Molecular Biology, College of Medicine, Kyung Hee University, Seoul 02447, Republic of Korea; Human Health and Environmental Toxins Research Center, Kyung Hee University, 02447, Republic of Korea. Electronic address:
Cetylpyridinium chloride (CPC) is a quaternary ammonium compound used widely in health and personal care products. Meanwhile, due to its increasing use, its potential adverse health effects are emerging as a topic of public concern. In this study, we first administered CPC by pharyngeal aspiration to determine the survival level (the maximum concentration at which no death is observed) and then administered CPC to mice repeatedly for 28 days using the survival level as the highest concentration.
View Article and Find Full Text PDFSuccessful bilateral lung transplantation in a five-year-old child with pulmonary interstitial fibrosis caused by an ABCA3 gene mutation.
Transpl Immunol
August 2024
Lung Transplant Center, Department of Thoracic Surgery, The Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi People's Hospital, Wuxi Medical Center, Nanjing Medical University, Wuxi, China. Electronic address:
The ATP-binding cassette subfamily A member 3 (ABCA3) protein plays a fundamental role in surfactant homeostasis. Most children with ABCA3 gene mutations develop pulmonary interstitial fibrosis leading to the development of interstitial lung disease. Since traditional medicine does not offer effective therapy, the best option is lung transplantations, especially bilateral lung transplantations.
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!