Journal article
An omic approach to congenital diaphragmatic hernia: a pilot study of genomic, microRNA, and metabolomic profiling
Journal of perinatology, v 40(6), pp 952-961
Jun 2020
PMID: 32080334
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
The omic approach can help identify a signature that can be potentially used as biomarkers in babies with congenital diaphragmatic hernia (CDH).
To find a specific microRNA (miR) and metabolic fingerprint of the tracheal aspirates (TA) of CDH patients. We conducted a genetic analysis from blood samples.
TA samples collected in the first 48 h of life in patients with CDH, compared with age-matched controls. Metabolomics done by a mass spectroscopy-based assay. Genomics done using chromosomal microarray analysis.
CDH (n = 17) and 16 control neonates enrolled. miR-16, miR-17, miR-18, miR-19b, and miR-20a had an increased expression, while miR-19a had a twofold decreased expression in CDH patients, compared with age-matched control patients. Specific metabolites separated neonates with CDH from controls. A genetic mutation found in a small subset of patients.
Specific patterns of metabolites and miR expression can be discerned in TA samples in infants with CDH.
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Details
- Title
- An omic approach to congenital diaphragmatic hernia: a pilot study of genomic, microRNA, and metabolomic profiling
- Creators
- Fiammetta Piersigilli - Bambino Gesù Children's HospitalMansoor Syed - Yale UniversityTuKiet T Lam - Yale UniversityAndrea Dotta - Bambino Gesù Children's HospitalMichela Massoud - Bambino Gesù Children's HospitalPamela Vernocchi - Bambino Gesù Children's HospitalAndrea Quagliariello - Bambino Gesù Children's HospitalLorenza Putignani - Bambino Gesù Children's HospitalCinzia Auriti - Bambino Gesù Children's HospitalGuglielmo Salvatori - Bambino Gesù Children's HospitalPietro Bagolan - Bambino Gesù Children's HospitalVineet Bhandari - Cooper Medical School of Rowan University
- Publication Details
- Journal of perinatology, v 40(6), pp 952-961
- Publisher
- Springer Nature
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000514761900004
- Scopus ID
- 2-s2.0-85079783990
- Other Identifier
- 991019167472404721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Obstetrics & Gynecology
- Pediatrics