Ontology highlight
ABSTRACT:
PROVIDER: PRJNA1250610 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Extreme preterm infants are a growing population in neonatal intensive care units who carry a high mortality and morbidity. Multiple factors play a role in preterm birth, resulting in major impact on organogenesis leading to complications including bronchopulmonary dysplasia (BPD). The goal of this study was to identify biomarker signatures associated with BPD severity. We analyzed profiles in tracheal aspirates (TAs) from 25 extremely preterm infants receiving invasive mechanical ventilation. Eight infants were diagnosed with mild/moderate BPD, and 17 were diagnosed with severe BPD, according to the NHLBI consensus conference classification . We found specific miRNA signatures in TAs that may serve as biomarkers for BPD severity.
2021-01-30 | GSE165828 | GEO
Project description:Whole genome sequencing of sick children in neonatal and paediatric intensive care units, aligned to reference assembly GRCh38.
| EGAD00001007868 | EGA
Project description:Whole genome sequencing of sick children in neonatal and paediatric intensive care units, aligned to reference assembly GRCh37.
| EGAD00001007780 | EGA
Project description:Extreme preterm infants are a growing population in neonatal intensive care units who carry a high mortality and morbidity. Multiple factors play a role in preterm birth, resulting in major impact on organogenesis leading to complications including bronchopulmonary dysplasia (BPD). The goal of this study was to identify biomarker signatures associated with prematurity and BPD. We analyzed miRNA and mRNA profiles in tracheal aspirates (TAs) from 51 infants receiving invasive mechanical ventilation. 25 infants were extremely preterm and diagnosed with BPD, and 26 were term babies receiving invasive mechanical ventilation for elective procedures. We found specific mRNA-miRNA signatures in TAs that may serve as biomarkers for BPD pathogenesis, a consequence of extreme prematurity.
2020-08-12 | GSE156055 | GEO
Project description:Whole genome sequencing of sick children in neonatal and paediatric intensive care units. Datasets EGAD00001007780 (GRCh37) and EGAD00001007868 (GRCh38) are extentions of this dataset.
| EGAD00001004357 | EGA
Project description:Gut microbiota development of preterm infants hospitalised in intensive care units
| PRJDB7277 | ENA
Project description:Gut metagenome of infants in the neonatal intensive care unit
| PRJNA521878 | ENA
Project description:<p>Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease presentations are often undifferentiated at birth. More than 3,500 monogenic diseases have been characterized, but clinical testing is available for only some of them and many feature clinical and genetic heterogeneity. As such, an immense unmet need exists for improved molecular diagnosis in infants. Because disease progression is extremely rapid, albeit heterogeneous, in newborns, molecular diagnoses must occur quickly to be relevant for clinical decision-making. We describe 50-hour differential diagnosis of genetic disorders by whole-genome sequencing (WGS) that features automated bioinformatic analysis and is intended to be a prototype for use in neonatal intensive care units. Retrospective 50-hour WGS identified known molecular diagnoses in two children. Prospective WGS disclosed potential molecular diagnosis of a severe <i>GJB2</i>-related skin disease in one neonate; <i>BRAT1</i>-related lethal neonatal rigidity and multifocal seizure syndrome in another infant, identified <i>BCL9L</i> as a novel, recessive visceral heterotaxy gene (<i>HTX6</i>) in a pedigree, and ruled out known candidate genes in one infants. Sequencing of parents or affected siblings expedited the identification of disease gene in prospective cases. Thus, rapid WGS can potentially broaden and foreshorten differential diagnosis, resulting in fewer empirical treatments and faster progression to genetic and prognostic counseling.</p> <p>Reprinted from Saunders et. al, Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units. Sci. Transl. Med. 4, 154ra135 (2012; <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Rapid%20Whole-Genome%20Sequencing%20for%20Genetic%20Disease%20Diagnosis%20in%20Neonatal%20Intensive%20Care%20Units">PMID: 23035047</a>) with permission from AAAS.</p>
| phs000564 | dbGaP