Prenatal ultrasound diagnosis of cystic biliary atresia.
Ontology highlight
ABSTRACT:
SUBMITTER: Morel B
PROVIDER: S-EPMC4693700 | biostudies-other | 2015 Dec
REPOSITORIES: biostudies-other
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Project description: Not available
| S-EPMC9442211 | biostudies-literature
Project description: Not available
| S-EPMC9442213 | biostudies-literature
Project description:OBJECTIVES:Diagnosing biliary atresia (BA) quickly is critical, because earlier treatment correlates with delayed or reduced need for liver transplantation. However, diagnosing BA quickly is also difficult, with infants usually treated after 60 days of life. In this study, we aim to accelerate BA diagnosis and treatment, by better understanding factors influencing the diagnostic timeline. METHODS:Infants born between 2007 and 2014 and diagnosed with BA at our institution were included (n?=?65). Two periods were examined retrospectively: P1, the time from birth to specialist referral, and P2, the time from specialist referral to treatment. How sociodemographic factors associate with P1 and P2 were analyzed with Kaplan-Meier curves and Cox proportional hazard models. In addition, to better characterize P2, laboratory results and early tissue histology were studied. RESULTS:P1 associated with race/ethnicity, with shorter times in non-Hispanic white infants compared to non-Hispanic black and Hispanic infants (P?=?0.007 and P?=?0.004, respectively). P2 associated with referral age, with shorter times in infants referred after 30, 45, or 60 days of life (P?<?0.001, P?<?0.001, and P?=?0.001, respectively). One potential reason for longer P2 in infants referred ?30 days is that aminotransferase levels were normal or near-normal. However, despite reassuring laboratory values, tissue histology in early cases showed key features of BA. CONCLUSIONS:Our findings suggest 2 opportunities to accelerate BA diagnosis and treatment. First, to achieve prompt referrals for all races/ethnicities, universal screening strategies should be considered. Second, to ensure efficient evaluations independent of age, algorithms designed to detect early features of BA can be developed.
| S-EPMC5963977 | biostudies-literature
Project description:Early diagnosis of biliary atresia (BA) is crucial for improving the chances of survival and preserving the liver function of children with BA. To explore potential biomarkers for early diagnosis of BA with other non-BA jaundice cases, we performed proteomic analysis with data-independent acquisition (DIA) and parallel reaction monitoring (PRM). With this approach we were able to detect and validate differential protein expression in plasma of patients. Bioinformatics analysis revealed the enrichment biological processes, characteristic of BA by identifying differential expression of specific proteins of which with 10 were up- and 23 down-regulated. Signaling pathway analysis demonstrated changes in protein expression associated with an alteration in immunoglobins levels, which is indicative immune dysfunction in BA. When polymeric immunoglobulin receptor (pIgR) expression was combined with an immunoglobulin lambda variable chain (IGL c2225_light_IGLV1-47_IGLJ2), revealed by machine learning, they provided a useful early diagnostic model for BA, which had a sensitivity of 0.8, specificity of 1, accuracy of 0.89, and AUC value of 0.944. Our study not only identified a possible effective plasma biomarker for the early diagnosis of BA but may also help to further elucidate the underlying mechanisms of BA.
2024-06-22 | PXD048938 | Pride
Project description:Background: Biliary Atresia (BA) is congenital condition, where infant intra- and extrahepatic bile ducts become obliterated, leading to cholestasis, and cirrhosis if untreated. This study aims to assess the predictive measure of absent gallbladder on ultrasounds (US) performed in infants with cholestasis for diagnosing BA. Method: After Institutional Review Board approval, retrospective chart reviews of 61 infants with cholestasis found 43 (70.5%) were diagnosed with BA. A pediatric radiologist provided interpretations of all ultrasounds in a blinded fashion. Statistical analysis was used to assess the utility of absence of gallbladder on US in predicting BA, confirmed intraoperatively. Results: Absent gallbladder on US predicts absent gallbladder with 77% accuracy, 92% sensitivity, 73% specificity, PPV 43%, and NPV 97% (P < 0.001, Fisher exact test). To diagnose BA, absent gallbladder on US has 66% accuracy, 53% sensitivity, 94% specificity, 96% PPV, and 46% NPV (P < 0.001, Fisher exact test). Conclusion: Sonographic gallbladder absence has high specificity and PPV, indicating utility for BA diagnosis; however, it is not useful for ruling out BA given its low sensitivity.
| S-EPMC8275825 | biostudies-literature
Project description:BackgroundBiliary atresia (BA) is a severe inflammatory obliterative cholangiopathy of infancy that requires early diagnosis and prompt surgical intervention. In this study, we aimed to obtain comprehensive evidence on the diagnostic performance of liver stiffness measurement by ultrasound elastography in the detection of BA through a meta-analysis.MethodsThe PubMed, EMBASE, Cochrane Library, and Web of Science databases were searched for studies that investigated the diagnostic performance of ultrasound elastography in the detection of BA up to January 10, 2022. In this study, in order to summarize the diagnostic performance of ultrasound elastography, the summary receiver operating characteristic (SROC) modeling was constructed. Heterogeneity was estimated with the I 2 statistic. Multiple subgroup analyses were also performed.ResultsFourteen studies from eleven articles, including 774 BA patients, 850 non-BA patients, and 173 controls were included in the present meta-analysis. The summary sensitivity and specificity of ultrasound elastography for liver stiffness were 85% [95% confidence interval (CI): 79-89%] and 82% (95% CI: 73-88%) with the I 2 value of 82.90 and 84.33%, respectively. The area under the SROC curve (AUROC) using ultrasound elastography for diagnosing BA was 0.90 (95% CI: 0.87-0.92). In addition, a subgroup analysis of 9 two-dimensional shear wave elastography studies was also performed. Subgroup analysis revealed that the summary sensitivity and specificity were 85% (95% CI: 77-91%) and 79% (95% CI: 71-86%), respectively, and the summary AUROC was 0.89 (95% CI: 0.86-0.92).ConclusionsUltrasound elastography exhibits good diagnostic accuracy for BA and can be served as a non-invasive tool to facilitate the differential diagnosis of BA.
| S-EPMC9643747 | biostudies-literature
Project description:BACKGROUND: Young age at portoenterostomy has been linked to improved outcome in biliary atresia, but pre-existing biological factors may influence the rate of disease progression. In this study, we aimed to determine whether molecular profiling of the liver identifies stages of disease at diagnosis. METHODS: We examined liver biopsies from 47 infants with biliary atresia enrolled in a prospective observational study. Biopsies were scored for inflammation and fibrosis, used for gene expression profiles, and tested for association with indicators of disease severity, response to surgery, and survival at 2 years. RESULTS: Fourteen of 47 livers displayed prominent features of inflammation (N=9) or fibrosis (N=5), with the remainder showing similar levels of both simultaneously. Differential profiling of gene expression of the 14 livers displayed a unique molecular signature containing 150 gene probes. Applying prediction analysis models, the probes classified 29 of the remaining 33 livers into inflammation or fibrosis. Molecular classification into the two groups was validated by the findings of increased hepatic population of lymphocyte subsets or tissue accumulation of matrix substrates. The groups had no association with traditional markers of liver injury or function, response to surgery, or complications of cirrhosis. However, infants with an inflammation signature were younger, while those with a fibrosis signature had decreased transplant-free survival. CONCLUSION: Molecular profiling at diagnosis of biliary atresia uncovers a signature of inflammation or fibrosis in most livers. This signature may relate to staging of disease at diagnosis and has implications to clinical outcomes.
2010-08-31 | GSE15235 | GEO
Project description:BACKGROUND: Young age at portoenterostomy has been linked to improved outcome in biliary atresia, but pre-existing biological factors may influence the rate of disease progression. In this study, we aimed to determine whether molecular profiling of the liver identifies stages of disease at diagnosis. METHODS: We examined liver biopsies from 47 infants with biliary atresia enrolled in a prospective observational study. Biopsies were scored for inflammation and fibrosis, used for gene expression profiles, and tested for association with indicators of disease severity, response to surgery, and survival at 2 years. RESULTS: Fourteen of 47 livers displayed prominent features of inflammation (N=9) or fibrosis (N=5), with the remainder showing similar levels of both simultaneously. Differential profiling of gene expression of the 14 livers displayed a unique molecular signature containing 150 gene probes. Applying prediction analysis models, the probes classified 29 of the remaining 33 livers into inflammation or fibrosis. Molecular classification into the two groups was validated by the findings of increased hepatic population of lymphocyte subsets or tissue accumulation of matrix substrates. The groups had no association with traditional markers of liver injury or function, response to surgery, or complications of cirrhosis. However, infants with an inflammation signature were younger, while those with a fibrosis signature had decreased transplant-free survival. CONCLUSION: Molecular profiling at diagnosis of biliary atresia uncovers a signature of inflammation or fibrosis in most livers. This signature may relate to staging of disease at diagnosis and has implications to clinical outcomes. Clinical and laboratory data and liver biopies were obtained from 47 infants at diagnosis of biliary atresia and every 3-6 month intervals until 2 years of age as part of a prospective, observational study of the Biliary Atresia Research Consortium. Liver biopsies underwent histological scoring and those specimens classified as inflammation or fibrosis were used to generate a group-specific gene expression profile. The profile was used to assign a molecular stages of inflammation or fibrosis to the entire cohort. Molecular groups were tested for biological plausibility using immunostaining to quantify hepatic inflammatory cells, and quantitative PCR to reproduce the expression of gene groups and the expression of collagen genes. They were also tested for clinical relevance by testing of association with indicators of liver function, complications of disease, and clinical outcome. This dataset is part of the TransQST collection.
2010-08-31 | E-GEOD-15235 | biostudies-arrayexpress
Project description:ObjectiveTo assess the diagnostic value of various ultrasound (US) findings and to make a decision-tree model for US diagnosis of biliary atresia (BA).Materials and methodsFrom March 2008 to January 2014, the following US findings were retrospectively evaluated in 100 infants with cholestatic jaundice (BA, n = 46; non-BA, n = 54): length and morphology of the gallbladder, triangular cord thickness, hepatic artery and portal vein diameters, and visualization of the common bile duct. Logistic regression analyses were performed to determine the features that would be useful in predicting BA. Conditional inference tree analysis was used to generate a decision-making tree for classifying patients into the BA or non-BA groups.ResultsMultivariate logistic regression analysis showed that abnormal gallbladder morphology and greater triangular cord thickness were significant predictors of BA (p = 0.003 and 0.001; adjusted odds ratio: 345.6 and 65.6, respectively). In the decision-making tree using conditional inference tree analysis, gallbladder morphology and triangular cord thickness (optimal cutoff value of triangular cord thickness, 3.4 mm) were also selected as significant discriminators for differential diagnosis of BA, and gallbladder morphology was the first discriminator. The diagnostic performance of the decision-making tree was excellent, with sensitivity of 100% (46/46), specificity of 94.4% (51/54), and overall accuracy of 97% (97/100).ConclusionAbnormal gallbladder morphology and greater triangular cord thickness (> 3.4 mm) were the most useful predictors of BA on US. We suggest that the gallbladder morphology should be evaluated first and that triangular cord thickness should be evaluated subsequently in cases with normal gallbladder morphology.
| S-EPMC4644760 | biostudies-literature
Project description:BackgroundYoung age at portoenterostomy has been linked to improved outcome in biliary atresia, but pre-existing biological factors may influence the rate of disease progression. In this study, we aimed to determine whether molecular profiling of the liver identifies stages of disease at diagnosis.MethodsWe examined liver biopsies from 47 infants with biliary atresia enrolled in a prospective observational study. Biopsies were scored for inflammation and fibrosis, used for gene expression profiles, and tested for association with indicators of disease severity, response to surgery, and survival at 2 years.ResultsFourteen of 47 livers displayed predominant histological features of inflammation (N = 9) or fibrosis (N = 5), with the remainder showing similar levels of both simultaneously. By differential profiling of gene expression, the 14 livers had a unique molecular signature containing 150 gene probes. Applying prediction analysis models, the probes classified 29 of the remaining 33 livers into inflammation or fibrosis. Molecular classification into the two groups was validated by the findings of increased hepatic population of lymphocyte subsets or tissue accumulation of matrix substrates. The groups had no association with traditional markers of liver injury or function, response to surgery, or complications of cirrhosis. However, infants with an inflammation signature were younger, while those with a fibrosis signature had decreased transplant-free survival.ConclusionsMolecular profiling at diagnosis of biliary atresia uncovers a signature of inflammation or fibrosis in most livers. This signature may relate to staging of disease at diagnosis and has implications to clinical outcomes.
| S-EPMC2887077 | biostudies-literature