An acute gastric volvulus in a child with congenital left diaphragmatic hernia: a case report.

BACKGROUND: Acute complete gastric volvulus is a rare and life-threatening disease, which is prone to gastric wall ischemia, perforation, and necrosis. If it is not treated by surgery in time, the mortality rate can range from 30 to 50%. Clinical presentations of acute gastric volvulus are atypical and often mimic other abdominal conditions such as gastritis, gastroesophageal reflux, gastric dilation, and pancreatitis. Imaging studies are crucial for diagnosis, with barium meal fluoroscopy being the primary modality for diagnosing gastric volvulus. Cases of acute gastric volvulus diagnosed by ultrasound are rarely reported. CASE PRESENTATION: We reported a rare case of acute gastric volvulus in a 4-year-old Chinese girl who presented with vomiting and abdominal pain. Ultrasound examination revealed the "whirlpool sign" in the cardia region, raising suspicion of gastric volvulus. Diagnosis was confirmed by X-ray barium meal fluoroscopy, which indicated left-sided diaphragmatic hernia and obstruction at the cardia region. Surgical intervention confirmed our suspicion of acute complete gastric volvulus combined with diaphragmatic hernia. CONCLUSION: In this case, we reported an instance of acute complete gastric volvulus. Ultrasound revealed a "whirlpool sign" in the cardia, which is likely to be a key sign for the diagnosis of complete gastric volvulus.

Comparison for the diagnostic performance of early diagnostic methods for biliary atresia: a systematic review and network meta-analysis.

BACKGROUND: Biliary atresia (BA), a progressive condition affecting canalicular-bile duct function/anatomy, requires prompt surgical intervention for favorable outcomes. Therefore, we conducted a network meta-analysis of common diagnostic methods to assess their performance and provide evidence-based support for clinical decision-making. METHODS: We reviewed literature in PubMed, EMBASE, and Cochrane for BA diagnostics. The search included gamma-glutamyl transferase (GGT), direct/combined bilirubin, matrix metalloproteinase 7 (MMP-7), ultrasonic triangular cord sign (TCS), hepatic scintigraphy (HS), and percutaneous cholangiocholangiography/percutaneous transhepatic cholecysto-cholangiography (PCC/PTCC). QUADAS-2 assessed study quality. Heterogeneity and threshold effect were evaluated using I2 and Spearman's correlation. We combined effect estimates, constructed SROC models, and conducted a network meta-analysis based on the ANOVA model, along with meta-regression and subgroup analysis, to obtain precise diagnostic performance assessments for BA. RESULTS: A total of 40 studies were included in our analysis. GGT demonstrated high diagnostic accuracy for BA with a sensitivity of 81.5% (95% CI 0.792-0.836) and specificity of 72.1% (95% CI 0.693-0.748). Direct bilirubin/conjugated bilirubin showed a sensitivity of 87.6% (95% CI 0.833-0.911) but lower specificity of 59.4% (95% CI 0.549-0.638). MMP-7 exhibited a total sensitivity of 91.5% (95% CI 0.893-0.934) and a specificity of 84.3% (95% CI 0.820-0.863). TCS exhibited a sensitivity of 58.1% (95% CI 0.549-0.613) and high specificity of 92.9% (95% CI 0.911-0.944). HS had a high sensitivity of 98.4% (95% CI 0.968-0.994) and moderate specificity of 79.0% (95% CI 0.762-0.816). PCC/PTCC exhibited excellent diagnostic performance with a sensitivity of 100% (95% CI 0.900-1.000) and specificity of 87.0% (95% CI 0.767-0.939). Based on the ANOVA model, the network meta-analysis revealed that MMP-7 ranked second overall, with PCC/PTCC ranking first, both exhibiting superior diagnostic accuracy compared to other techniques. Our analysis showed no significant bias in most methodologies, but MMP-7 and hepatobiliary scintigraphy exhibited biases, with p values of 0.023 and 0.002, respectively. CONCLUSION: MMP-7 and ultrasound-guided PCC/PTCC show diagnostic potential in the early diagnosis of BA, but their clinical application is restricted due to practical limitations. Currently, the cutoff value of MMP-7 is unclear, and further evidence-based medical research is needed to firmly establish its diagnostic value. Until more evidence is available, MMP-7 is not suitable for widespread diagnostic use. Therefore, considering cost and operational simplicity, liver function tests combined with ultrasound remain the most clinically valuable non-invasive diagnostic methods for BA.

Biliary atresia: the development, pathological features, and classification of the bile duct.

Biliary atresia is an occlusive biliary disease involving intrahepatic and extrahepatic bile ducts. Its etiology and pathogenesis are unclear. There are many manifestations of bile duct involvement in biliary atresia, but little is known about its occurrence and development. In addition, different classification methods have been proposed in different periods of biliary atresia, each with its advantages and disadvantages. The combined application of biliary atresia classification will help to improve the survival rate of patients with native liver. Therefore, this article reviews the development, pathological features, and classification of intrahepatic and extrahepatic bile ducts in biliary atresia, to provide a reference for the study of the pathogenesis and the choice of treatment methods.

Potential therapeutic target of EGF on bile duct ligation model and biliary atresia children.

BACKGROUND: The pathogenesis of liver fibrosis in biliary atresia (BA) is unclear. Epidermal growth factor (EGF) plays a vital role in liver fibrosis. This study aims to investigate the expression of EGF and the mechanisms of its pro-fibrotic effects in BA. METHODS: EGF levels in serum and liver samples of BA and non-BA children were detected. Marker proteins of EGF signaling and epithelial-mesenchymal transition (EMT) in liver sections were evaluated. Effects of EGF on intrahepatic cells and the underlying mechanisms were explored in vitro. Bile duct ligation (BDL) mice with/without EGF antibody injection were used to verify the effects of EGF on liver fibrosis. RESULTS: Serum levels and liver expression of EGF elevated in BA. Phosphorylated EGF receptor (p-EGFR) and extracellular regulated kinase 1/2 (p-ERK1/2) increased. In addition, EMT and proliferation of biliary epithelial cells were present in BA liver. In vitro, EGF induced EMT and proliferation of HIBEpic cells and promoted IL-8 expression in L-02 cells by phosphorylating ERK1/2. And EGF activated LX-2 cells. Furthermore, EGF antibody injection reduced p-ERK1/2 levels and alleviated liver fibrosis in BDL mice. CONCLUSION: EGF is overexpressed in BA. It aggravates liver fibrosis through EGF/EGFR-ERK1/2 pathway, which may be a therapeutic target for BA. IMPACT: The exact pathogenesis of liver fibrosis in BA is unknown, severely limiting the advancement of BA treatment strategies. This study revealed that serum and liver tissue levels of EGF were increased in BA, and its expression in liver tissues was correlated with the degree of liver fibrosis. EGF may promote EMT and proliferation of biliary epithelial cells and induce IL-8 overexpression in hepatocytes through EGF/EGFR-ERK1/2 signaling pathway. EGF can also activate HSCs in vitro. The EGF/EGFR-ERK1/2 pathway may be a potential therapeutic target for BA.

Effects of respiratory flora regulation on microbial environment and IL-10/STAT3 signaling pathway in the bronchiolitis obliterans after lung transplantation.

Our purpose of this study was to explore the application effect of respiratory flora regulation in bronchiolitis obliterans after lung transplantation, and its regulatory effect on the microbial environment of the lesion and the IL-10/STAT3 signaling pathway. 25 clean-grade C57BL/6 male mice and 5 BALB/c male mice were selected for orthotopic tracheal transplantation and postoperative respiratory flora regulation in a hospital animal room from Jan 2019 to Dec 2021. Next, the changes in the microbial environment and the IL-10/STAT3 signaling pathway before and after respiratory flora regulation were compared, so as to evaluate the regulatory effect of this method. The Simpson index did not show a significant difference before and after respiratory flora regulation intervention (P>0.05). However, the Chao1, ACE, Shannon, and Actinobacteria dominant indices were higher after the intervention. There were significant changes in the abundance of Proteobacteria, Bacteroidetes, Acidobacteria, Firmicutes, Propionibacterium, Corynebacterium, Staphylococcus, and Streptococcus after the intervention (P<0.05). Additionally, IL-10 and STAT3 levels were higher after the intervention and showed significant differences (P<0.05) compared to before. Regulating the respiratory tract flora can improve the microbial environment of bronchiolitis obliterans post-lung transplantation. This helps balance the respiratory flora, increase IL-10 and STAT3 levels, and aid in the recovery of inflammatory responses.

Development and post-Kasai procedure prognostic relevance of histological features for biliary atresia.

OBJECTIVES: To validate an appropriate evaluation method of liver fibrosis assessment based on the unique pathological features of biliary atresia (BA) that could well predict its prognosis. METHODS: A total of 68 patients with BA who underwent Kasai procedure (KP) and an intraoperative liver biopsy, followed up from January 2019 to December 2021, were recruited in a retrospective analysis. Ishak, Metavir, and BA-specific staging systems in relation to outcomes were analyzed using logistic regression, COX proportional hazard regression, Kaplan-Meier analysis, etc. RESULTS: Kaplan-Meier analysis determined a significant difference in native liver survival according to the BA-specific stage (p = 0.002). The ROC curve analysis for predicting prognosis showed that the AUC of BA-specific staging combined with iBALF and severe bile duct proliferation (BDP) (0.811, 95% CI: 0.710-0.913, p < 0.0001) was higher than BA-specific staging alone (0.755, 95% CI: 0.639-0.872, p < 0.001). CONCLUSIONS: The BA-specific staging system reflects the condition of the liver fibrosis, and its combination with iBALF and severe BDP helps to better evaluate the prognosis of patients with BA.

A nomogram for the preoperative estimation of neuroblastoma risk despite inadequate biopsy information.

BACKGROUND AND PURPOSE: If the preoperative pathological information is inadequate, a risk classification may not be able to be determined for some patients with neuroblastoma. Our objectives were to include imaging factors, serum biomarkers, and demographic factors in a nomogram to distinguish high-risk patients before surgical resection based on the COG classification. METHOD: A total of 106 patients were included in the study. Of these, patients with clinicopathologically confirmed neuroblastoma at Tianjin Children's Hospital from January 2013 to November 2021 formed the training cohort (n = 82) for nomogram development, and those patients from January 2010 to December 2013 formed the validation cohort (n = 24) to confirm the model's performance. RESULT: On multivariate analysis of the primary cohort, independent factors for high risk were the presence of distant metastasis (p = 0.004), lactate dehydrogenase (LDH) (p = 0.009), and tumor volume (p = 0.033), which were all selected into the nomogram. The calibration curve for probability showed good agreement between prediction by nomogram and actual observation. The C-index of the nomogram was 0.95 95% [0.916-0.99]. Application of the nomogram in the validation cohort still gave good discrimination and good calibration. CONCLUSION: Three independent factors including the presence of distant metastasis, lactate dehydrogenase (LDH), and tumor volume are associated with high-risk neuroblastoma and selected into the nomogram. The novel nomogram has the flexibility to apply a clinically suitable cutoff to identify high-risk neuroblastoma patients despite inadequate preoperative pathological information. The nomogram can allow these patients to be offered suitable induction chemotherapy regimens and surgical plans. LEVELS OF EVIDENCE: Level III.

The correlation between rs2501577 gene polymorphism and biliary atresia: a systematic review and meta-analysis.

IMPORTANCE: Multiple studies indicate a possible correlation between ADD3 rs2501577 and biliary atresia susceptibility; however, a conclusive determination has yet to be made. OBJECTIVE: Investigate the role of ADD3 rs2501577 in biliary atresia susceptibility across diverse populations. DATA SOURCES: The study protocol has been registered on PROSPERO, an international platform for systematic review registration (PROSPERO ID: CRD42023384641). The following databases will be searched until February 1, 2023: PubMed, Embase, Cochrane, CBM, Web of Science, and CNKI. STUDY SELECTION: Eight studies were selected from seven papers to assess the data. A total of 7651 participants were included, consisting of 1662 in the BA group and 5989 in the NC group. DATA EXTRACTION AND SYNTHESIS: Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed while conducting the systematic reviews and meta-analyses. Two authors independently assessed the quality of the included studies using the Newcastle-Ottawa Quality Assessment Scale. The significance of the pooled odds ratio (OR) was evaluated with a Z test, and statistical heterogeneity across studies was assessed using the I2 and Q statistics. Publication bias was assessed using Egger's and Begg's tests. MAIN OUTCOME(S) AND MEASURE(S): The primary study outcome was the development of biliary atresia. Subgroup analysis was performed based on race, region, and assessment of Hardy-Weinberg equilibrium (HWE). RESULTS: The studies indicate that the ADD3 rs2501577 susceptibility locus increases the risk of developing biliary atresia, regardless of allelic, homozygote, dominant, and recessive gene inheritance models. Furthermore, ADD3 has been found to be associated with apoptosis, cell cycle, and cell damage repair based on functional analysis. CONCLUSIONS AND RELEVANCE: The ADD3 rs2501577 polymorphic locus is associated with an increased risk of biliary atresia, particularly in Asian populations. This study recommends further investigation of the ADD3 rs2501577 locus in Asian populations to validate its role in the diagnosis of biliary atresia.

Diagnostic and prognostic value of the gut microbiota and its metabolite butyrate in children with biliary atresia.

PURPOSE: To determine the prevalent microbiological profile of biliary atresia (BA) patients at the time of its occurrence by studying their intestinal flora. METHODS: A total of 118 gut microbiota samples from three groups of 43 BA patients, 33 disease controls (DC) with other cholestatic diseases and 42 healthy controls (HC), were analyzed by deep mining of public data. Subsequently, a total of 23 fecal samples from three groups of clinically collected patients (11 BA, 6 DC and 6 HC) were sequenced for 16S rRNA gene amplification and analyzed for serum butyrate (BU) level by liquid chromatography. RESULTS: Taxonomic analysis revealed significant differences in the composition of the intestinal microbiota between BA patients and controls, with a reduction in diversity and a higher abundance of Proteobacteria, Streptococcus and Lactobacillus in the BA group. Database and clinical data analyses concluded that Streptococcus/Bacteroides (AUC = 0.9035, 95% CI 0.8347-0.9722, P < 0.0001) or Streptococcus/Eggerthella (AUC = 0.8333, 95% CI 0.6340-1.000, P = 0.027) was the best microbiota to differentiate between BA and DC. Serum butyrate levels were low in the BA and DC groups and differed from the HC group (P = 0.01, P = 0.04). Butyrate levels in BA were negatively correlated with jaundice clearance and cholangitis, but not statistically significant. CONCLUSIONS: Our study reveals changes in the composition of the gut microbiota in BA, especially the butyrate-producing microbiota, and suggests the potential for using gut microbiota as a noninvasive diagnostic benefit for BA. Low levels of serum butyrate in BA may indicate a poor prognosis.

Efficacy of robot-assisted hepaticojejunostomy and laparoscopic-assisted hepaticojejunostomy in pediatric congenital choledochal dilatation: a system review and meta-analysis.

PURPOSE: The efficacy of robot-assisted hepaticojejunostomy (RAHJ) and laparoscopic-assisted hepaticojejunostomy (LAHJ) in children with congenital choledochal dilatation has been a topic of much debate and controversy. The purpose of this study was to evaluate the role of RAHJ and LAHJ in pediatric congenital choledochal dilatation. METHOD: The review program has been prospectively registered (PROSPEROID: CRD42022306868). We searched the PubMed, Embase, Cochrane, CBM, VIP, Web of Science, CNKI databases, and Wanfang databases from March 2021. The Mantel-Haenszel method and a random-effects model were used to figure out the hazard ratio (95% CI). RESULTS: Ten studies evaluated eight hundred and sixty-nine subjects (three hundred and thirty-two in the robotic group and five hundred and thirty-seven in the laparoscopic group), meeting all inclusion criteria. Compared with the laparoscopic group, robotic group demonstrated fewer postoperative complications [p = 0.0009; OR = 0.34 (95% CI, 0.18-0.64); I2 = 3%], shorter postoperative hospital stay [p < 00,001; MD = - 2.05 (95% CI, - 2.40-1.70); I2 = 0%], and less intraoperative bleeding [p = 0.008; MD = - 10.80 (95% CI, - 18.80-2.81); I2 = 99%]. There was no significant difference in operative time between the two groups [p = 0.10; MD = 24.53 (95% CI, - 5.11-54.17); I2 = 99%]. The same situation happened in short-term complication outcomes [p = 0.06; RR = 0.45 (95% CI, 0.19-1.04); I2 = 0%]. However, children in the RAHJ group had significantly lower levels of long-term complications [p = 0.04; OR = 0.41 (95% CI, 0.17-0.96); I2 = 0%]. Hospitalization costs were significantly higher in the RAHJ group [p < 0.00001; OR = 27,113.86 (95% CI, 26,307.24-27,920.48); I2 = 0%]. For overall complications, subgroup analysis of literature published after 2020 and of literature with high quality scores showed a significant decrease in the RAHJ group. CONCLUSION: In children with congenital choledochal dilatation, RAHJ is associated with reduced intraoperative bleeding, postoperative complications, and length of stay. Robotic surgery has a bright future in the treatment of pediatric common hepatic duct cysts and deserves to be promoted and popularized.

Primary exploring the value of metagenomic next-generation sequencing in detecting pathogenic bacteria of cholangitis with biliary atresia after Kasai operation.

PURPOSE: To evaluate the value of metagenomic next-generation sequencing (mNGS) in detecting pathogenic bacteria of cholangitis for patients with biliary atresia after Kasai operation. METHODS: This study retrospectively analyzed patients of biliary atresia with cholangitis after Kasai operation who were admitted to Xi'an Children's Hospital from July 2019 to December 2021. Both blood culture and mNGS were carried out in all of these patients. We compared the detection rate of pathogenic bacteria, pathogenic bacteria spectrum, test time, inflammatory indicators and liver function. All the patients were followed up for 0.5-3 years to evaluate the onset of cholangitis and the survival status of autologous liver. RESULTS: This study included total of 30 cholangitis occurred in 25 patients. There were significant differences in the detection rate of pathogenic bacteria [23.3 vs.73.3%, P < 0.05] and the test time [120 (114.5-120) vs.16 (16-21) h, P < 0.001] between the blood culture and mNGS. These two methods showed significant statistical differences in comparing inflammatory indicators (CRP, PCT) and liver function (TB, DB, GGT) before and after anti-infection. Four kinds of bacteria were detected by blood cultures and ten kinds of bacteria were detected by mNGS. Cholangitis occurred 3 times in one case (4%) and twice in three cases (12%). Autologous liver survived in 17 cases (68%). CONCLUSION: Comparing with traditional blood culture, mNGS is more efficient, convenient and accurate in the detection of pathogens. It provides a new method for accurately detecting pathogenic bacteria of cholangitis after Kasai operation.

Construction of a combined random forest and artificial neural network diagnosis model to screening potential biomarker for hepatoblastoma.

PURPOSE: The purpose of our study is to identify potential biomarkers of hepatoblastoma (HB) and further explore the pathogenesis of it. METHODS: Differentially expressed genes (DEGs) were incorporated into the combined random forest and artificial neural network diagnosis model to screen candidate genes for HB. Gene set enrichment analysis (GSEA) was used to analyze the ARHGEF2. Student's t test was performed to evaluate the difference of tumor-infiltrating immune cells (TIICs) between normal and HB samples. Spearson correlation analysis was used to calculate the correlation between ARHGEF2 and TIICs. RESULTS: ARHGEF2, TCF3, TMED3, STMN1 and RAVER2 were screened by the new model. The GSEA of ARHGEF2 included cell cycle pathway and antigen processing presenting pathway. There were significant differences in the composition of partial TIICs between HB and normal samples (p < 0.05). ARHGEF2 was significantly correlated with memory B cells (Cor = 0.509, p < 0.05). CONCLUSION: These 5 candidate genes contribute to the molecular diagnosis and targeted therapy of HB. And we found "ARHGEF2-RhoA-Cyclin D1/CDK4/CDK6-EF2" is a key mechanism regulating cell cycle pathway in HB. This will be helpful in the treatment of HB. The occurrence of HB is related to abnormal TIICs. We speculated that memory B cells play an important role in HB.

A novel model based on immune-related genes for differentiating biliary atresia from other cholestatic diseases.

PURPOSE: Based on a public gene expression database, this study established the immune-related genetic model that distinguished BA from other cholestasis diseases (DC) for the first time. We explored the molecular mechanism of BA based on the gene model. METHODS: The BA microarray dataset GSE46960, containing BA, other cause of intrahepatic cholestasis than biliary atresia and normal liver gene expression data, was downloaded from the Gene Expression Omnibus (GEO) database. We performed a comprehensive bioinformatics analysis to establish and validate an immune-related gene model and subsequently identified hub genes as biomarkers associated with the molecular mechanisms of BA. To assess the model's performance for separating BA from other cholestasis diseases, we used receiver operating characteristic (ROC) curves and the area under the curve (AUC) of the ROC. Independent datasets GSE69948 and GSE122340 were used for the validation process. RESULTS: The model was built using eight immune-related genes, including EDN1, HAMP, SAA1, SPP1, ANKRD1, MMP7, TACSTD2, and UCA1. In the GSE46960 and validation group, it presented excellent results, and the prediction accuracy of BA in comparison to other cholestasis diseases was good. Functional enrichment analysis revealed significant immunological differences between BA and other cholestatic diseases. Finally, we found that the TNFα-NF-κB pathway is associated with EDN1 gene expression and may explain fibrosis progression, which may become a new therapeutic target. CONCLUSION: In summary, we have successfully constructed an immune-related gene model that can distinguish BA from other cholestatic diseases, while identifying the hub gene. Our exploration of immune genes provides new clues for the early diagnosis, molecular mechanism, and clinical treatment of biliary atresia.

Relevant factors for early liver transplantation after Kasai portoenterostomy.

BACKGROUND: To explore the relevant factors for early liver transplantation (LT) after Kasai portoenterostomy (KP). METHODS: Retrospective analysis was performed for 200 children with biliary atresia, who underwent LT with hepatic failure after KP. According to the interval between KP and LT, they were divided into three groups: G1 (≤6-month), G2 (6-month~ 2-year) and G3 (> 2-year). Gender, age of Kasai portoenterostomy, jaundice-clearance, cholangitis after KP and liver function indexes before LT were compared among the three groups. RESULTS: The proportion of patients with age of KP (≤90-day) in G1 was lower than that in G3 (P = 0.003). Jaundice-clearance occurred in 6 (7.6%), 26(28.6%) and 26 (86.7%) patients after KP in G1, G2 and G3 respectively (P < 0.001). There were statistical differences in the incidence of early cholangitis, late cholangitis and repeated cholangitis among the three groups (P = 0.035, < 0.001 and 0.022). The native liver survival (NLS) rate of children at operation age > 90-day was lower than that of children at operation age ≤ 90-day (P = 0.002). The NLS rate of the children with jaundice-clearance after KP was significantly better than that of the children without jaundice-clearance (P < 0.001). The NLS rate of the children with early cholangitis after operation was lower than that in children without early cholangitis (P = 0.026). The NLS rate of patients of G2 and G3 with cholangitis after KP was lower than that in children without cholangitis (P = 0.017). Multiple logistic regression analysis showed uncleared jaundice after KP was a risk factor for the NLS time in patients. CONCLUSION: The age of KP (> 90-day), jaundice-unclear and early cholangitis could reduce the NLS time after KP, which were related to early liver transplantation. Jaundice-unclear was a risk factor for early liver transplantation.

Biliary atresia in twins: a systematic review and meta-analysis.

PURPOSE: Biliary atresia (BA) in twins is extremely rare reported in the literature, but twin studies are useful methods of examining the associated factors of a complex disease. The objective of this study was to analyze the characteristics and patterns of biliary atresia in twins from reviewing available articles. METHODS: PubMed and EMBASE databases were reviewed for related articles using the keywords ''biliary atresia'', ''twins'', ''monozygotic (MZ)'', and ''dizygotic (DZ)'', including relevant papers in the reference lists. RESULTS: This analysis was extracted from 12 articles, with a total of 35 twin pairs included. BA was found in 36 out of 70 twin subjects (51.4%), of which had an even gender split. 97.1% twins were discordant, among 55.9% of which were monozygotic twin sets, indicating that BA may be related to genetic phenotype or penetrance. Isolated BA was the largest group with 27 (75%) affected twins. Only one pair of dizygotic twins (2.9%) demonstrate concordance for BA, and have one affected family member. CONCLUSION: BA was found in nearly half of twin subjects with an even gender split. Isolated BA was the largest group, in which the number of monozygotic twins was similar with dizygotic twins, so the onset of the disease may not associate with the zygosity of twins. Most of twin sets had discordant disease presentation, especially monozygotic twins therein, emphasizing the role of epigenetic factor in the pathogenesis of BA. Future studies should take genetic testing among any twin sets in BA, especially the disease-associated mutations, thus be useful to investigate the etiology of disease.

Investigation into multi-centre diagnosis and treatment strategies of biliary atresia in mainland China.

BACKGROUND: Biliary atresia (BA) is an obstructive hepatobiliary disease which manifests during infancy. Kasai portoenterostomy (KPE) is the preferred operation for BA, supplemented with glucocorticoids, antibiotics, and choleretic agents. A great deal of research has been carried out regarding diagnosis, operation, and adjuvant therapies of BA, but no consensus had been reached. To understand the variation in diagnosis and treatment strategies of BA across mainland China and to help achieve a unified treatment strategy in the future, this investigation was carried out. METHODS: This investigation was conducted via electronic questionnaire. The centres were divided into three groups based on their annual caseload: low (0-20)-, mid (21-40)-, and high (≥ 41)-volume group. Differences in the clinical practice among three groups were analyzed by Chi-square test and considered statistically significant at P < 0.05. RESULTS: 41 Centres from 26 different administrative regions were involved. The average age at KPE was mainly 51-60 days (39%, 16/41) and 61-70 days (32%, 13/41). The annual caseload was 0-20 patients in 17 centres, 21-40 patients in 11 centres, and > 40 patients in 13 centres. Preoperative ultrasound and intraoperative cholangiography were performed in all centres. Low-volume centres had a high proportion of MRI (P = 0.005), while the high-volume group had a high proportion of LSM (P = 0.015). Open KPE without liver mobilisation is the most common surgical procedure (71%, 29/41). Open KPE without liver mobilisation was more commonly used in low-volume group (P = 0.044), and laparoscopic KPE was mainly used in high-volume group (P = 0.011). The spur anti-reflux intestinal valve was performed in more than half of the centres (51%, 21/41). The length of the Roux-en-Y loop was ≥ 30 cm in the majority of centres (78%, 32/41). Glucocorticoids and antibiotics were used in most centres (90%, 37/41; 100%, 41/41) with marked variations in type, administration, dose, and duration. Oral ursodeoxycholic acid (UDCA) was used in 38 centres, in varying doses of 10-20 mg/kg/day. The duration of oral UDCA was over a year in 19 centres. CONCLUSION: Mainland China has a large number of patients with biliary atresia. Diagnostic and surgical methods vary from centre to centre and are related to its caseload. In most centres, KPE is supplemented with glucocorticoids, antibiotics, and choleretic agents without a standard regimen.

Biliary atresia in twins'population: a retrospective multicenter study in mainland China.

AIM: We evaluated the demographic of biliary atresia (BA) children from twins family and aimed to investigated what it can add to the twins' literature and our understanding of the disease. METHODS: This study contains 11 medical centers in mainland China and the medical record of twins with BA was retrospectively analyzed from January 2012 to December 2018. Follow-up was carried out by out-patient review and questionnaire. RESULTS: The study included 19 twin pairs in whom there was discordance for BA. Sixteen (84.2%) affected twin underwent Kasai Procedure (KP); median age at KP was 78 (49-168) days. There were ten affected twins that became jaundice-free at 3 months post-KP, and eight occurred with different degrees of cholangitis post-KP. Six affected twins received Liver Transplantation (LT) successfully. The 2 year native liver survival rate and the 2 year overall survival rate of affected twins were 61.1 and 94.4%, respectively. There were three affected monozygotic (MZ) twins and one healthy co-twin with BA-associated congenital malformations, all of which were cardiac malformations. The number of virus infection of affected MZ twins was significantly more (p = 0.04) than affected dizygotic (DZ) twin. CONCLUSIONS: Discordance for BA in 19 pairs of twins supported that BA may be related to genetic phenotype or penetrance. The difference in genetic background between MZ and DZ affects the susceptibility of the host to virus infection. High acceptance of KP (84.2%) in our study implied a high motivation for treatment for twins with BA. Delays of KP (78 days) in affected twin may be related to the postnatal gradual onset and the late diagnosis.

Early differential diagnosis methods of biliary atresia: a meta-analysis.

PURPOSE: To evaluate the accuracy of early differential diagnosis methods of biliary atresia in patients with infantile cholestasis. METHODS: We searched PubMed, EMBASE and the Web of Science databases for articles evaluated the early differential diagnosis methods of biliary atresia. The methodological quality of each study was assessed with version 2 of the Quality Assessment of Diagnostic Accuracy Studies tool. Two reviewers extracted data independently. Pooled sensitivity, specificity, positive likelihood ratio (LR +), negative likelihood ratio (LR -), diagnostic odds ratio (DOR) with 95% CIs were calculated to assess each diagnosis method. RESULTS: A total of 38 articles were included. Summary sensitivity and specificity were 77% (95% CI 74-80%) and 93% (95% CI 91-94%), respectively, for B-US in 23 studies; 96% (95% CI 92-98%) and 58% (95% CI 51-65%), respectively, for MRCP in five studies; 87% (95% CI 82-91%) and 78% (95% CI 74-82%), respectively, for acholic stool in seven studies; 84% (95% CI 78-89%) and 97% (95% CI 97-98%), respectively, for serum liver function test in seven studies; 96% (95% CI 94-97%) and 73% (95% CI 70-76%), respectively, for hepatobiliary scintigraphy in 18 studies; 98% (95% CI 96-99%) and 93% (95% CI 89-95%), respectively, for percutaneous liver biopsy in 11 studies. CONCLUSION: The accuracy rate of percutaneous liver biopsy is better than all of the noninvasive methods. Take into consideration the advantages and disadvantages of the six methods, combination of multidisciplinary noninvasive diagnosis methods is the first choice for differential diagnosis of BA from other causes of neonatal cholestasis.

Kasai procedure improves nutritional status and decreases transplantation-associated complications.

BACKGROUND: The aim of this study was to retrospectively investigate whether Kasai Procedure (KP) improves nutritional status and whether KP decreases liver transplantation (LT)-associated complications in children with biliary atresia (BA). METHODS: From March 1st 2014 to February 28th 2015, 103 patients underwent LT and the other 17 without prior KP died during the waiting period. In 103 patients undergoing LT, 58 patients received KP previously (Group A), and 45 only underwent primary LT (Group B). The nutritional status, liver function and LT-related short-term complications were analyzed. RESULTS: Compared to Group B, patients in Group A had significantly increased time interval when undergoing LT (p < 0.05). Persistently, the bodyweight, albumin and hemoglobin in Group A were significantly increased compared to Group B (all, p < 0.0001). The bilirubin, ALT/AST and PELD score in Group A were all decreased compared to Group B (p < 0.05) prior to LT. The incidences of post-LT severe infection and hypoalbuminemia in Group A were significantly lower than those of Group B (p < 0.05). CONCLUSIONS: KP improves the nutritional status, preserves liver function for patients who finally undergo LT, and decreases the incidence post-LT severe infection and hypoalbuminemia. Mental health can be improved in parents whose children underwent previous KP.

Effect of Kasai procedure on liver transplantation in children with biliary atresia: a systematic review and updated meta-analysis.

Background: Kasai procedure and liver transplantation are effective ways to save the life of children with biliary atresia (BA). However, with the gradual development of liver transplantation technology, scholars have questioned the necessity of the Kasai procedure. Therefore, we conducted a meta-analysis to evaluate the effect of previous Kasai procedures on liver transplantation in children with BA. Methods: Seven databases were searched and screened from the establishment of the database to May 3, 2023. The data in the included literature were extracted for meta-analysis to compare the differences between the Kasai group and the non-Kasai group. Finally, a publication bias test, sensitivity analysis, subgroup analysis, and systematic review were performed. Results: A total of 26 studies were included in which 6,522 children with BA underwent liver transplantation, including 4,989 in the Kasai group. Compared with the non-Kasai group, the Kasai group had older age [standardized mean difference (SMD) =0.64; 95% confidence interval (CI): 0.46, 0.82; P<0.001] (I2=78.6%), heavier weight (SMD =0.41; 95% CI: 0.33, 0.48; P<0.001) (after sensitivity analysis, I2=0.0%), lower pediatric end-stage liver disease (PELD) (SMD =-0.41; 95% CI: -0.48, -0.35; P<0.001) (I2=20.1%), longer operation time (SMD =0.33; 95% CI: 0.01, 0.65; P<0.001) (I2=83.2%), more intraoperative blood loss (SMD =0.26; 95% CI: 0.06, 0.46; P=0.012) (I2=19.1%), shorter intensive care unit (ICU) stay (SMD =-0.09; 95% CI: -0.34, 0.15; P=0.027) (I2=68.6%) and higher incidence of intestinal perforation [odds ratio (OR) =1.96; 95% CI: 1.20, 3.18; P=0.007] (I2=7.4%) and biliary complications (OR =1.41; 95% CI: 1.05, 1.89; P=0.024) (I2=31.4%). In the "Asia" subgroup, the Kasai group was older (SMD =0.68; 95% CI: 0.52, 0.84; P<0.001) (I2=28.2%). In the "Cases since 2000" subgroup, there was no significant difference in operation time between the two groups (I2=28.5%). In the "Other" and the "non-Asia" subgroup, there was no significant difference in length of intensive care unit (ICU) stay between the two groups (I2=0.0%). However, there were no significant differences in other postoperative complications and prognostic indicators between the two groups. Conclusions: For children with BA undergoing liver transplantation, although previous Kasai procedure may increase the risk of intraoperative bleeding, biliary complications, and intestinal perforation, it does not affect the main clinical outcomes, and can even delay the timing of liver transplantation and improve the preoperative status of children. Therefore, when BA children have no obvious contraindications to Kasai procedure, the sequential treatment of Kasai procedure-liver transplantation should be supported first.