Novel 3D morphological characteristics for congenital biliary dilatation diagnosis: a case-control study.

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.

Excepcional variación anatómica del confluente biliar superior / Exceptional anatomical variation of the upper biliary confluence / Variação anatômica excepcional da confluência biliar superior

Las variaciones de la formación del confluente biliar superior y su frecuencia deben ser conocidas para asegurar óptimos resultados en la cirugía hepática y evitar lesiones quirúrgicas biliares.

Variante anatómica de la vía biliar durante la colecistectomía laparoscópica / Anatomical variant of the bile duct during laparoscopic cholecystectomy / Variante anatômica do ducto biliar durante colecistectomia laparoscópica

Se presenta la colangiografía intraoperatoria obtenida durante la colecistectomía laparoscópica de una paciente de 58 años con el diagnóstico de colecistitis aguda.

Aberrant right posterior sectoral duct injury necessitating liver resection.

Aberrant insertion of the right posterior sectoral duct is a particularly hazardous variation of biliary anatomy which makes it prone to injury during laparoscopic cholecystectomy. Such injuries are challenging to manage, as multiple therapeutic options are available with no clear consensus in the literature for an optimal approach. Options include conservative management, intraoperative ligation of the injured duct, Roux-en-Y reconstruction and segmental liver resection. Most cases in the literature advocate for nonoperative management or hepaticojejunostomy. We present an unusual case of aberrant right posterior sectoral duct injury in which neither of these approaches was viable, necessitating a bi-segmental liver resection.

A case report of reversible posterior encephalopathy syndrome with intracranial hemorrhage in a child.

INTRODUCTION: The objective is to analyze the clinical diagnosis and treatment of children with rescindable posterior encephalopathy syndrome (PRES) and intracranial hemorrhage (ICH) to improve the pediatrician's understanding of PRES combined with ICH in children. PATIENT CONCERNS AND DIAGNOSIS: After liver transplantation, the patient developed symptoms of epilepsy and coma. Meanwhile, massive necrosis of acute cerebral infarction and small hemorrhage was observed in the left cerebellar hemisphere and left occipital lobe, respectively. The above symptoms were initially diagnosed as PRES. INTERVENTIONS AND OUTCOMES: After adjusting the anti-rejection drug regimen, it was found that the child's neurological symptoms were relieved, and the limb motor function gradually recovered during follow-up. Imaging examination showed significant improvement on abnormal signals in brain. CONCLUSION: In general, children with PRES may further develop ICH and contribute to a poor prognosis. Early diagnosis, detection of risk factors and timely adjustment of medication regimen are the keys to prevent irreversible brain damage.

[Surgical treatment of common bile duct malformations in children]. / Khirurgicheskoe lechenie mal'formatsii obshchego zhelchnogo protoka u detei.

The review is devoted to the current classifications of common bile duct malformations, authors' opinion regarding surgical approach and reconstruction of the bile ducts. The authors describe the modern modifications of bile duct reconstructions and estimate their effectiveness. PubMed database, Google Scholar and National Scientific Electronic Library eLIBRARY.ru databases were used. We analyzed the complications in children depending on various reconstructions, anatomical form, timing of reconstructive surgery and early diagnosis of this pathology.

Evaluation and Pathologic Classification of Choledochal Cysts: Clinicopathologic Analysis of 84 Cases From the West.

Choledochal cyst (CC) is believed to be a mostly Asian disorder. As a clinically defined entity, its pathologic correlates are poorly characterized. Eighty-four resected CCs from the West were reanalyzed. After applying established Japanese criteria, 9/66 with available imaging were disqualified and 10/39 with preoperative cyst typing had to be recategorized. None had been diagnosed with, or evaluated for, pancreatobiliary maljunction, but on retrospective analysis of radiologic images, 12/66 were found to have pancreatobiliary maljunction. The clinical findings were: F/M=5.7; mean age, 48; most (77%) presented with abdominal pain; mean size, 2.9 cm; choledocholithiasis 11%. Gross/histologic examination revealed 3 distinct pathology-based categories: (I) Cystic dilatation of native ducts (81%). (II) Double bile duct (13%), almost all of which were found in women (10/11); all were diagnosed by pathologic examination, and not preoperative diagnosis. (III) Gastrointestinal (GI) duplication type (6%). Microscopic findings of the entire cohort included mucosal-predominant lymphoplasmacytic inflammation (50%), follicular cholangitis (7%), mucosal hyperplasia (43%; 13% with papillae), intestinal metaplasia (10%), BilIN-like hyperplasia (17%), erosion/ulceration (13%), and severe dysplasia-mimicking atypia including "detachment atypia" and micropapillary degeneration (11%). Carcinomatous changes were seen in 14 cases (17%) (high-grade dysplasia/carcinoma in situ in 7, intraductal papillary neoplasm 1, and invasive carcinoma 6); and 13/14 of these occurred in pathologic category I, all with cyst size >1 cm. In conclusion, diagnostic imaging guidelines used in Asia are not routinely used (but should be adopted) in the West. Pathologically, cases designated as CC are classifiable in 3 groups: category 1 (dilated native duct type), more prone to carcinomatous change; category 2, double-duct phenomenon (all but 1 being female in this study); and category 3, GI-type duplication. Overall, 17% of CCs show carcinomatous change (50% of them invasive). CC specimens should be carefully examined with this classification and submitted entirely for assessment of at-risk mucosa and cancerous transformation.

Magnetic resonance cholangiopancreatography identification of pancreaticobiliary maljunction in the colombian pediatric population. / Unión biliopancreática anómala por colangiorresonancia en población pediátrica colombiana.

OVERVIEW: Pancreaticobiliary maljunction (PBM) is a congenital malformation characterized by a long common pancreaticobiliary channel which causes sphincter of Oddi malfunction. In children, it is typically diagnosed using magnetic resonance cholangiopancreatography (MRCP). It is associated with congenital biliary dilatation, pancreatitis, and gallbladder and bile duct tumors at adulthood. Studies in the western population are rare. Given its morbidity rate, it should be searched for in the western pediatric population. The objective of this study was to look for and identify the presence of pancreaticobiliary maljunction through MRCP in pediatric patients with biliary or pancreatic disease, as well as to find out other associated factors. METHODS: MRCP was used to measure common channel length, pancreatic duct length, and bile duct diameter in 41 pediatric patients with biliary or pancreatic disease. RESULTS: The common channel could only be measured in 17.6% of cases, 50% of which were >8 mm long. All patients were female and had congenital biliary dilatation. No age-related differences were found in terms of bile duct length. CONCLUSIONS: PBM is present in the western pediatric population, but prevalence and morbidity are unknown. Larger studies are required to identify morbidity and mortality, as well as prevalence among patients.

OBJETIVO: La unión biliopancreática anómala (UBPA) es una malformación congénita caracterizada por un canal común pancreatobiliar largo que impide el adecuado funcionamiento del esfínter de Oddi. Su diagnóstico en niños se realiza comúnmente mediante colangiopancreatografía por resonancia magnética (CPRM). Se asocia a dilatación biliar congénita, pancreatitis y tumores de la vesícula y la vía biliar en la edad adulta. Los estudios en población occidental son escasos; debido a su morbilidad resulta de relevancia la búsqueda en población pediátrica occidental. Este estudio pretende buscar e identificar la presencia de unión biliopancreática anómala mediante CPRM de pacientes pediátricos con enfermedad de la vía biliar o pancreática, al igual que identificar otros factores asociados. METODOS: Se midió por CPRM la longitud del canal común, el conducto pancreático y el diámetro de la vía biliar de 41 pacientes pediátricos con patología biliar o pancreática. RESULTADOS: El canal común solo pudo ser medido en el 17,6% de los casos, de los cuales el 50% tuvo una longitud >8 mm, siendo todos ellos pacientes femeninos con dilatación biliar congénita; no se encontraron diferencias en la longitud de la vía biliar relacionado con la edad. CONCLUSIONES: La UBPA es una malformación que se encuentra presente en población pediátrica occidental con prevalencia y morbilidad desconocida; se requieren estudios a mayor escala para identificar morbimortalidad y prevalencia de pacientes con esta malformación.

Tumor de Klatskin y metástasis cerebral como presentación inusual en cáncer de mama / Klatskin tumor and brain metastasis in a breast cancer patient: Case report

Introducción: El cáncer de mama es la principal causa de muerte en mujeres a nivel mundial, se los clasifica en base a la expresión del receptor de estrógenos, de progesterona y de ERBB2. El tumor de Klatskin es infrecuente y se origina en la bifurcación del conducto biliar extrahepático. Presentación del caso: Paciente femenina de 60 años con diagnóstico de cáncer de mama estadío IIIB, que presenta hemiplejía derecha secundaria a lesión cerebral metastásica, inicialmente catalogada como neurocisticercosis. Después de 1 año 7 meses desarrolla ictericia colestásica cuya evaluación clínica permite evidenciar tumor de Klatskin mediante colangioresonancia. Discusión: El presente caso muestra una paciente con múltiples metástasis secundarias a cáncer de mama. Incluyendo, de igual manera, un tumor de Klatskin, el cual fue descubierto posterior a un síndrome colestásico. Son pocos los casos de la literatura que registran procesos metastásicos hacia conductos biliares con origen en un carcinoma ductal infiltrante. Conclusiones: Pocos casos en la literatura registran procesos metastásicos hacia las vías biliares con origen en infiltración ductal carcinoma; sin embargo, es fundamental informar para la evidencia clínica y el estudio de la literatura.

Introduction: Breast cancer is the principal cause of death in women worldwide, classi ed based on the expression of estrogen receptor, progesterone, and ERBB2. Klatskin tumor is rare and originates in the bifurcation of the extrahepatic bile duct. Case presentation: A 60 years old female patient diagnosed with stage IIIB breast cancer presents right hemiplegia secondary to metastatic brain injury, initially classi ed as neurocysticercosis. After one year and seven months, she developed cholestatic jaundice, whose clinical evaluation allows Klatskin tumor evidence through cholangioresonance. Discussion: The present case is about a patient with multiple metastases secondary to breast cancer. Including, in the same way, a Klatskin tumor, which was discovered after a cholestatic syndrome. Conclusions: Few cases in the literature register metastatic processes towards bile ducts originating from in ltrating ductal carcinoma; however, it is essential to report for clinical evidence and study of the literature.

Extrahepatic biliary duplication with heterotopic gastric mucosa in a 46,XX male patient.

Extrahepatic biliary duplication is a rare congenital biliary malformation, even more so when associated with heterotopic gastric mucosa. This case report highlights the difficulty of diagnosing such biliary abnormalities, in particular when the duplicated extrahepatic bile duct is the only structure visible by imaging as it is masking the common bile duct. This report shows that extrahepatic bile duct duplication may be a cause of chronic biliary obstruction and secondary sclerosing cholangitis. It has to be considered as a differential diagnosis of primary sclerosing cholangitis in children and adolescents. Furthermore, a potential link between the 46,XX karyotype and biliary duplication is discussed.

Luschka Ducts of the Gallbladder in Adults: Case Series Report and Review of the Medical Literature.

Luschka ducts (LD) of the gallbladder (GB) are rare congenital lesions. They are defined as bile ducts that connect directly the hepatic bile duct system to the GB. We aimed to present the characteristics of 55 cases of GB LDs as diagnosed on cholecystectomy specimens. Surgically resected GBs (55) were analyzed for LD morphological features (length, morphological pattern, and epithelial lesions) as well as for immunohistochemical features. The age varied between 24 and 88 years. The gender ratio was 30:25 (female-male). The diagnosis was acute and subacute/chronic cholecystitis (21 and 34 cases, respectively). GB abnormalities of Rokitansky-Aschoff sinus, adenomyoma, septate, and subserosal-liver types were present in 36, 6, 22, and 12 GBs, respectively, while adenocarcinoma was present in 2 GBs. A history of renal cyst, pancreatitis, and colon diverticulosis was observed in 8, 11, and 4 cases, respectively. The LDs were detected at subserosal, resection, or both sites (25, 4, and 26 cases, respectively). The length varied between <1 and 36 mm. Duct-type LDs were observed in 17 cases, complex-type LDs in 5 cases, and mixed-type LDs in 33 cases. Mucosecretion was seen in 12 LDs and cystic dilatation in 8 cases. Epithelial atypia was observed in 2 cases and meganucleoli in 15 cases. Presence of LD-angulation correlated with chronic cholecystitis, while LD-nuclear atypia correlated with acute cholecystitis. In conclusion, LDs may harbor varied aspects, from duct-like or cystic, to nodular, biliary adenoma-like complexes. GB abnormalities of Rokitansky-Aschoff sinus, septa, or subserosal-liver types and extra-GB lesions such as renal cysts, pancreatitis, and colon diverticulosis were associated.

Sox9 Is a Modifier of the Liver Disease Severity in a Mouse Model of Alagille Syndrome.

BACKGROUND AND AIMS: Alagille syndrome (ALGS) is a multisystem developmental disorder characterized by bile duct (BD) paucity, caused primarily by haploinsufficiency of the Notch ligand jagged1. The course of the liver disease is highly variable in ALGS. However, the genetic basis for ALGS phenotypic variability is unknown. Previous studies have reported decreased expression of the transcription factor SOX9 (sex determining region Y-box 9) in late embryonic and neonatal livers of Jag1-deficient mice. Here, we investigated the effects of altering the Sox9 gene dosage on the severity of liver disease in an ALGS mouse model. APPROACH AND RESULTS: Conditional removal of one copy of Sox9 in Jag1+/- livers impairs the biliary commitment of cholangiocytes and enhances the inflammatory reaction and liver fibrosis. Loss of both copies of Sox9 in Jag1+/- livers further worsens the phenotypes and results in partial lethality. Ink injection experiments reveal impaired biliary tree formation in the periphery of P30 Jag1+/- livers, which is improved by 5 months of age. Sox9 heterozygosity worsens the P30 biliary tree phenotype and impairs the partial recovery in 5-month-old animals. Notably, Sox9 overexpression improves BD paucity and liver phenotypes in Jag1+/- mice without ectopic hepatocyte-to-cholangiocyte transdifferentiation or long-term liver abnormalities. Notch2 expression in the liver is increased following Sox9 overexpression, and SOX9 binds the Notch2 regulatory region in the liver. Histological analysis shows a correlation between the level and pattern of SOX9 expression in the liver and outcome of the liver disease in patients with ALGS. CONCLUSIONS: Our results establish Sox9 as a dosage-sensitive modifier of Jag1+/- liver phenotypes with a permissive role in biliary development. Our data further suggest that liver-specific increase in SOX9 levels is a potential therapeutic approach for BD paucity in ALGS.

Endoscopic retrograde cholangiopancreatography in children with symptomatic pancreaticobiliary maljunction: A retrospective multicenter study.

BACKGROUND: Endoscopic retrograde cholangiopancreatography (ERCP) has been widely used in pediatric patients with cholangiopancreatic diseases. AIM: To evaluate the efficacy, safety, and long-term follow-up results of ERCP in symptomatic pancreaticobiliary maljunction (PBM). METHODS: A multicenter, retrospective study was conducted on 75 pediatric patients who were diagnosed with PBM and underwent therapeutic ERCP at three endoscopy centers between January 2008 and March 2019. They were divided into four PBM groups based on the fluoroscopy in ERCP. Their clinical characteristics, specific ERCP procedures, adverse events, and long-term follow-up results were retrospectively reviewed. RESULTS: Totally, 112 ERCPs were performed on the 75 children with symptomatic PBM. Clinical manifestations included abdominal pain (62/75, 82.7%), vomiting (35/75, 46.7%), acholic stool (4/75, 5.3%), fever (3/75, 4.0%), acute pancreatitis (47/75, 62.7%), hyperbilirubinemia (13/75, 17.3%), and elevated liver enzymes (22/75, 29.3%). ERCP interventions included endoscopic sphincterotomy, endoscopic retrograde biliary or pancreatic drainage, stone extraction, etc. Procedure-related complications were observed in 12 patients and included post-ERCP pancreatitis (9/75, 12.0%), gastrointestinal bleeding (1/75, 1.3%), and infection (2/75, 2.7%). During a mean follow-up period of 46 mo (range: 2 to 134 mo), ERCP therapy alleviated the biliary obstruction and reduced the incidence of pancreatitis. The overall effective rate of ERCP therapy was 82.4%; seven patients (9.3%) were lost to follow-up, eight (11.8%) re-experienced pancreatitis, and eleven (16.2%) underwent radical surgery, known as prophylactic excision of the extrahepatic bile duct and hepaticojejunostomy. CONCLUSION: ERCP is a safe and effective treatment option to relieve biliary or pancreatic obstruction in symptomatic PBM, with the characteristics of minor trauma, fewer complications, and repeatability.

Gene expression profiling reveals upregulated FUT1 and MYBPC1 in children with pancreaticobiliary maljunction.

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.

Donor ductal anomaly is not a contraindication to right liver lobe donation.

BACKGROUND: Data of living-donor liver transplantation (LDLT) suggested that donor ductal anomaly may contribute to postoperative biliary complications in recipients and in donors. This retrospective study aimed to determine if the occurrence of postoperative biliary stricture in donors or recipients in right-lobe LDLT (RLDLT) is related to donor biliary anatomy type. METHODS: We analyzed our RLDLT recipients' clinical data and those of their graft donors. The recipients were divided into 2 groups: with and without postoperative biliary stricture. The 2 groups were compared. The primary endpoints were donor biliary anatomy type and postoperative biliary complication incidence; the secondary endpoints were 1-, 3- and 5-year graft and patient survival rates. RESULTS: Totally 127 patients were included in the study; 25 (19.7%) of them developed biliary anastomotic stricture. In these 25 patients, 16 had type A biliary anatomy, 3 had type B, 2 had type C, 3 had type D, and 1 had type E. In the 127 donors, 96 (75.6%) had type A biliary anatomy, 13 (10.2%) had type B, 6 (4.7%) had type C, 10 (7.9%) had type D, and 2 (1.6%) had type E. Biliary stricture was seen in 2 donors, who had type A biliary anatomy. None of the recipients or donors developed bile leakage. No association between the occurrence of postoperative biliary stricture and donor biliary anatomy type was found (P = 0.527). CONCLUSIONS: The incidence of biliary stricture in donors or recipients after RLDLT was not related to donor biliary anatomy type. As postoperative complications were similar in whatever type of donor bile duct anatomy, donor ductal anomaly should not be considered a contraindication to donation of right liver lobe.