Accurate prediction of biliary atresia with an integrated model using MMP-7 levels and bile acids.

BACKGROUND: Biliary atresia (BA) is a rare fatal liver disease in children, and the aim of this study was to develop a method to diagnose BA early. METHODS: We determined serum levels of matrix metalloproteinase-7 (MMP-7), the results of 13 liver tests, and the levels of 20 bile acids, and integrated computational models were constructed to diagnose BA. RESULTS: Our findings demonstrated that MMP-7 expression levels, as well as the results of four liver tests and levels of ten bile acids, were significantly different between 86 BA and 59 non-BA patients (P < 0.05). The computational prediction model revealed that MMP-7 levels alone had a higher predictive accuracy [area under the receiver operating characteristic curve (AUC) = 0.966, 95% confidence interval (CI): 0.942, 0.989] than liver test results and bile acid levels. The AUC was 0.890 (95% CI 0.837, 0.943) for liver test results and 0.825 (95% CI 0.758, 0.892) for bile acid levels. Furthermore, bile levels had a higher contribution to enhancing the predictive accuracy of MMP-7 levels (AUC = 0.976, 95% CI 0.953, 1.000) than liver test results. The AUC was 0.983 (95% CI 0.962, 1.000) for MMP-7 levels combined with liver test results and bile acid levels. In addition, we found that MMP-7 levels were highly correlated with gamma-glutamyl transferase levels and the liver fibrosis score. CONCLUSION: The innovative integrated models based on a large number of indicators provide a noninvasive and cost-effective approach for accurately diagnosing BA in children. Video Abstract (MP4 142103 KB).

The characteristics of blood transfusion and analysis of preoperative factors associated with intraoperative blood transfusion in congenital heart surgery: a case-control study.

PURPOSE: Blood transfusion is a common and life-saving procedure in congenital heart surgery (CHS), and it is critical for patients to identify risk factors prior to surgery. Our objective is to conduct an analysis of the preoperative factors that influence blood use during CHS and to offer guidance on preoperative blood preparation. METHODS: A total of 1550 cases were retrospectively analyzed in our institution between May 2019 and June 2020. We determined whether to employ red blood cells (RBCs), platelets, and plasma as dependent variables; we treated the data from characteristics and laboratory tests as binary data, except for the Risk Adjustment for Congenital Heart Surgery (RACHS) methods as multinomial data, and finally taken into binary logistic regression analysis. RESULTS: The total amounts of transfused RBCs, platelets, and plasma were 850.5 U (N = 713, 46%), 159 U (N = 21, 1.4%), and 1374.2 U (N = 953, 61.5%), respectively. Multivariate analysis found age (OR 0.142, 95% CI 0.099-0.203, P < 0.001), weight (0.170, 0.111-0.262, P < 0.001) RACHS method (RACHS2 vs. RACHS1, 3.444, 2.521-4.704, P < 0.001; RACHS3 vs. RACHS1, 9.333, 4.731-18.412, P < 0.001; RACHS4 vs. RACHS1, 31.327, 2.916-336.546, P = 0.004), and hemoglobin (0.524, 0.315-0.871, P = 0.013) to be independent risk predictors of RBC transfused volume; age (9.911, 1.008-97.417, P = 0.049), weight (0.029, 0.003-0.300, P = 0.029), RACHS method (RACHS3 vs. RACHS1, 13.001, 2.482-68.112, P = 0.002; RACHS4 vs. RACHS1, 59.748, 6.351-562.115, P < 0.001) to be platelets; and age (0.488, 0.352-0.676, P < 0.001), weight (0.252, 0.164-0.386, P < 0.001), RACHS method (RACHS2 vs. RACHS1, 2.931, 2.283-3.764, P < 0.001; RACHS3 vs. RACHS1, 10.754, 4.751-24.342, P < 0.001), APTT (1.628, 1.058-2.503, P = 0.027), and PT (2.174, 1.065-4.435, P = 0.033) to be plasma. CONCLUSION: Although patients' age, weight, routine blood test, coagulation function, and protein levels should all be considered for preparing blood before CHS, the RACHS method is the most important factor influencing intraoperative blood transfused volume and should be considered first in clinical blood preparation.

Case Report: Novel JAG1 gene mutations in two infants with alagille syndrome characterized by cholestasis.

Background: Infants with Alagille syndrome (ALGS) need to be promptly differentiated from biliary atresia (BA) at an early stage. ALGS is an autosomal, dominant, multisystem disorder with variable phenotypic penetrance caused by heterozygous mutations in JAG1 or NOTCH2, which encode the Notch signaling pathway. Case presentation: We report two cases, both with cholestatic jaundice as the main manifestation, in which BA was excluded and finally diagnosed as ALGS based on characteristic facial features, serological tests, imaging, laparoscopic cholangiography, pathology and genetic findings. Both cases are novel mutant genes on chromosome 20 that have not been reported in the literature. The mutation in patient 1 was a novel heterozygous nonsense mutation (NM_000214 exon20, c.2419G > T, p.E807Ter), which was a spontaneous mutation. Followed up to 1 year and 6 months, the symptoms resolved with ursodeoxycholic acid and cholestyramine, and the jaundice has now subsided. Patient 2 was a novel heterozygous frameshift mutation (NM_000214 exon19, c.2367-2368dupTC, p.P790Lfs*31), which was inherited from his mother. This patient was followed up to 9 months and is currently awaiting liver transplantation. Conclusion: Both cholestatic infants reported combined to exclude BA, avoid Kasai portoenterostomy (KPE), and definitively diagnose ALGS. Broadening the spectrum of JAG1 gene mutations.

Meconium Peritonitis, Intestinal Atresia Combined With Biliary Atresia: A Case Report.

Meconium peritonitis (MP) combined with intestinal atresia (IA) is a rare neonatal condition, and it is even rarer in combination with biliary atresia (BA). We describe a case of an infant who developed short bowel syndrome after partial intestinal resection due to MP and IA, along with a Santullienterostomy. During continuous enteral and parenteral nutrition, the stool color became paler. BA was identified by elevated direct bilirubin (DBIL), gamma-glutamyltransferase (GGT), serum matrix metalloproteinase-7 (MMP-7), and hepatobiliary ultrasound; then, Kasai portoenterostomy (KPE) was performed promptly. The Roux-en-Y limb was adjusted intraoperatively to preserve the maximum length of the small intestine while closing the enterostomy. After the operation, the infant gradually adapted to enteral nutrition, his bilirubin level returned to normal, and his weight gradually caught up to the normal range. Although rare, BA should be suspected when MP is combined with IA and when the stool becomes paler in color in the enterostomy state.