RESUMO
Pancreaticobiliary maljunction (PBM) is associated with high risk of epithelial atypical growth and malignant transformation of the bile duct or gallbladder. However, overall changes in genetic expression have not been examined in children with PBM. Genome-wide expression was analyzed using peripheral blood samples from 10 children with PBM and 15 pediatric controls. Differentially expressed genes (DEGs) were identified using microarray. Bioinformatics analysis was conducted using Gene Ontology and KEGG analyses. The top 5 in the up-regulated genes in PBM were verified with qRT-PCR. Receiver operator characteristic curve analysis was conducted to evaluate the predictive accuracy of selected genes for PBM. The microarray experiments identified a total of 876 DEGs in PBM, among which 530 were up-regulated and the remaining 346 were down-regulated. Verification of the top 5 up-regulated genes (TYMS, MYBPC1, FUT1, XAGE2, and GREB1L) by qRT-PCR confirmed the up-regulation of MYBPC1 and FUT1. Receiver operating characteristic curve analysis suggested that FUT1 and MYBPC1 up-regulation could be used to predict PBM, with the area under the curve of 0.873 (95%CI=0.735−1.000) and 0.960 (95%CI=0.891−1.000), respectively. FUT1 and MYBPC1 were up-regulated in children with PBM, and could be used as potential biomarkers for PBM.
Assuntos
Humanos , Masculino , Lactente , Pré-Escolar , Criança , Ductos Pancreáticos/anormalidades , Ductos Biliares/anormalidades , Regulação para Cima/genética , Perfilação da Expressão Gênica , Fucosiltransferases/genética , Neoplasias dos Ductos Biliares/etiologia , Proteínas de Transporte/genética , Estudos de Casos e Controles , Análise em Microsséries , Dilatação Patológica/complicações , Dilatação Patológica/congênito , Neoplasias da Vesícula Biliar/etiologiaRESUMO
Congenital segmental dilatation of the colon belongs to a group of Hirschsprung's-like diseases with normal ganglion cells. The presentation is with chronic constipation affecting older children. We report a neonate with congenital segmental dilatation of the colon associated with sigmoid atresia. The child is well after a colostomy.
Assuntos
Colo Sigmoide/anormalidades , Doenças do Colo/congênito , Colostomia , Dilatação Patológica/congênito , Humanos , Recém-Nascido , Atresia Intestinal/cirurgia , MasculinoRESUMO
Since Jarcho and Levin described a condition involving extensive vertebral malformations and early death in 1938, many cases have been reported using multiple synonyms. Later, Solomon (3) proposed a subtype classification system to improve counseling concerning risk of recurrence, management, and prognosis. This is a report of a new Hispanic case with findings of spondylothoracic dysostosis and unusual aortic root dilatation