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2.
Front Pediatr ; 9: 682160, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34671583

RESUMO

Background: Neonatal respiratory distress syndrome (RDS), due to surfactant deficiency in preterm infants, is the most common cause of respiratory morbidity. The surfactant proteins (SFTP) genetic variants have been well-studied in association with RDS; however, the impact of SNP-SNP (single nucleotide polymorphism) interactions on RDS has not been addressed. Therefore, this study utilizes a newer statistical model to determine the association of SFTP single SNP model and SNP-SNP interactions in a two and a three SNP interaction model with RDS susceptibility. Methods: This study used available genotype and clinical data in the Floros biobank at Penn State University. The patients consisted of 848 preterm infants, born <36 weeks of gestation, with 477 infants with RDS and 458 infants without RDS. Seventeen well-studied SFTPA1, SFTPA2, SFTPB, SFTPC, and SFTPD SNPs were investigated. Wang's statistical model was employed to test and identify significant associations in a case-control study. Results: Only the rs17886395 (C allele) of the SFTPA2 was associated with protection for RDS in a single-SNP model (Odd's Ratio 0.16, 95% CI 0.06-0.43, adjusted p = 0.03). The highest number of interactions (n = 27) in the three SNP interactions were among SFTPA1 and SFTPA2. The three SNP models showed intergenic and intragenic interactions among all SFTP SNPs except SFTPC. Conclusion: The single SNP model and SNP interactions using the two and three SNP interactions models identified SFTP-SNP associations with RDS. However, the large number of significant associations containing SFTPA1 and/or SFTPA2 SNPs point to the importance of SFTPA1 and SFTPA2 in RDS susceptibility.

3.
Pediatr Radiol ; 33(6): 429-32, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12768256

RESUMO

Traumatic injury to the pharynx or esophagus in a newborn from intubation or tube suctioning may have various presentations. Difficulty passing a gastric tube or feeding problems may erroneously suggest the diagnosis of esophageal atresia. Associated respiratory distress may be caused by pneumothorax or pleural effusion if the pleural space is entered. We report the case of a full-term newborn presenting with severe respiratory distress caused by a large retropharyngeal air collection resulting from hypopharyngeal perforation from prior intubation and suctioning. Chest abnormality, sufficient to account for the degree of respiratory distress, was not demonstrated.


Assuntos
Enfisema/etiologia , Intubação Intratraqueal/efeitos adversos , Doenças Faríngeas/etiologia , Faringe/lesões , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Terapia Combinada , Enfisema/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Recém-Nascido , Intubação Intratraqueal/métodos , Doenças Faríngeas/diagnóstico por imagem , Radiografia , Respiração Artificial , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico por imagem , Síndrome do Desconforto Respiratório do Recém-Nascido/terapia , Medição de Risco , Índice de Gravidade de Doença
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