Document Detail


Genetic predisposing factors to bronchopulmonary dysplasia: preliminary data from a multicentre study.
MedLine Citation:
PMID:  22958043     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Bronchopulmonary dysplasia (BPD) is the most frequent chronic lung disease in preterm newborn infants. It is a multifactorial disease caused by the interaction between environmental and genetic factors. The aim of this study is to identify genetic variants contributing to BPD development using next-generation sequencing (NGS) technology. We prospectively evaluated 378 premature newborn infants with a gestational age <32 weeks in a multicentre study from 12 Italian neonatal intensive care unit from 2009 to 2012. Infants were divided into two groups: normal controls (225) and BPD-affected infants (141) with mild (65, 46.1%), moderate (40, 28.4%) and severe (36, 25.5%) BPD. BPD was more frequent in infants with lower weight and gestational age. Antenatal steroid administration was more frequent in the control group. Postnatal infection, respiratory distress syndrome, patent ductus arterious, cerebral haemorrhage, surfactant administration, ventilatory support, diuretics and postnatal steroid administration correlated with severity of BPD. Among BPD, moderate and severe cases will be selected as BPD "extreme phenotypes", and in fact variations in 28-day oxygen need-based BPD were previously shown to be fully attributable to environmental effects whereas dependence on supplemental oxygen at 36 weeks seems to better reflect underlying genetic susceptibility. Exome analysis by NGS is in progress. Identifications of genetic markers predisposing to BPD may allow development of personalized and preventive treatments.
Authors:
Marco Somaschini; Emanuela Castiglioni; Chiara Volonteri; Marco Cursi; Maurizio Ferrari; Paola Carrera
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians     Volume:  25 Suppl 4     ISSN:  1476-4954     ISO Abbreviation:  J. Matern. Fetal. Neonatal. Med.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-09-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101136916     Medline TA:  J Matern Fetal Neonatal Med     Country:  England    
Other Details:
Languages:  eng     Pagination:  119-22     Citation Subset:  IM    
Affiliation:
Genomic Unit for Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics , Ospedale San Raffaele, Milan , Italy.
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