RESUMO
BACKGROUND: Congenital biliary dilatation (CBD) necessitates the timely removal of dilated bile ducts. Accurate differentiation between CBD and secondary biliary dilatation (SBD) is crucial for treatment decisions, and identification of CBD with intrahepatic involvement is vital for surgical planning and supportive care. This study aimed to develop quantitative models based on bile duct morphology to distinguish CBD from SBD and further identify CBD with intrahepatic involvement. MATERIALS AND METHODS: The retrospective study included 131 CBD and 209 SBD patients between December 2014 and December 2021 for model development, internal validation, and testing. A separate cohort of 15 CBD and 34 SBD patients between January 2022 and December 2022 was recruited for temporally-independent validation. Quantitative shape-based (Shape) and diameter-based (Diam) morphological characteristics of bile ducts were extracted to build a CBD diagnosis model to distinguish CBD from SBD and an intrahepatic involvement identification model to classify CBD with/without intrahepatic involvement. The diagnostic performance of the models was compared with that of experienced hepatobiliary surgeons. RESULTS: The CBD diagnosis model using clinical, Shape, and Diam characteristics showed good performance with an AUROC of 0.942 (95% CI: 0.890-0.994), AUPRC of 0.917 (0.855-0.979), accuracy of 0.891, sensitivity of 0.950, and F1-score of 0.864. The model outperformed two experienced surgeons in accuracy, sensitivity, and F1-score. The intrahepatic involvement identification model using clinical, Shape, and Diam characteristics yielded outstanding performance with an AUROC of 0.944 (0.879-1.000), AUPRC of 0.982 (0.947-1.000), accuracy of 0.932, sensitivity of 0.971, and F1-score of 0.957. The models demonstrated generalizable performance on the temporally-independent validation cohort. CONCLUSIONS: This study developed two robust quantitative models for distinguishing CBD from SBD and identifying CBD with intrahepatic involvement, respectively, based on morphological characteristics of the bile ducts, showing great potential in risk stratification and surgical planning of CBD.
Assuntos
Imageamento Tridimensional , Humanos , Estudos Retrospectivos , Feminino , Masculino , Dilatação Patológica/diagnóstico por imagem , Dilatação Patológica/congênito , Estudos de Casos e Controles , Lactente , Ductos Biliares/anormalidades , Ductos Biliares/diagnóstico por imagem , Ductos Biliares/patologiaRESUMO
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
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