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.

A case of congenital biliary dilatation without pancreaticobiliary maljunction, so-called Type Ib according to Todani's classification.

Congenital biliary dilatation (CBD) is a congenital malformation of focal dilatation of the extrahepatic bile ducts, including the common bile duct, and is often associated with pancreaticobiliary maljunction (PBM). In this article, we report a CBD case that presented with focal dilation of the common bile duct without PBM (Todani's classification type Ib). The patient was a 32-year-old man who visited a doctor with a chief complaint of abdominal distension. Computed tomography revealed cystic dilatation of the common bile duct, and the patient was referred to our institution. Magnetic resonance cholangiopancreatography showed cystic dilatation of the common bile duct with a maximum diameter of 7 cm; however, evaluating the presence of PBM was challenging. Endoscopic ultrasonography showed small gallstones and debris in the dilated common bile duct and no thickening of the gallbladder wall. Endoscopic retrograde cholangiopancreatography revealed no PBM or markedly elevated bile amylase levels. Based on these findings, the patient was diagnosed with Todani Type Ib CBD. Since this patient did not have pancreatobiliary reflux, it was unclear whether the risk of developing biliary tract cancer was high, and since the treatment was highly invasive, the decision was to follow up without surgical treatment.

Congenital segmental dilatation of the colon in a newborn: a radiologic perspective of an unusual entity.

A newborn with congenital segmental dilatation of the intestine affecting the colon is presented. This rare condition, unrelated to Hirschsprung's disease, may affect any portion of the bowel and is characterized by focal dilatation of a segment of bowel flanked by normal proximal and distal bowel. While reported in the surgical literature, congenital segmental dilatation of the intestine has not been reported in the pediatric radiology literature even though pediatric radiologists may be the first to encounter imaging suggesting the diagnosis. We therefore present the characteristic imaging findings, including abdominal radiographs and images from a contrast enema, and discuss the clinical presentation, pathology findings, associations, treatment, and prognosis of congenital segmental dilatation of the intestine to increase awareness of this unusual diagnosis.

Segmental Dilatation of Ileum Involving Bronchogenic Cyst in a Newborn.

Objective: Congenital segmental intestinal dilatation (SID) and bronchogenic cyst in the abdomen are two uncommon and different pathologies. We report a bronchogenic cyst associated with segmental intestinal dilatation. Case: A 2-day-old 3300 g term infant developed bilious vomiting. A jejunoileal segment with a diameter of 10 cm was detected at surgery. Histologically, the wall musculature and enteric plexus of the segmentally enlarged small intestine stained normally for CD117 and negative for calretinin. A bronchogenic cyst of 3 cm in diameter was centered on the mesenteric border of the dilated intestine. Conclusion: SID has a normal staining pattern for CD117 (for interstitial cells of Cajal) and negative for calretinin. it would suggest that the innervation is defective, may be associated with a bronchogenic cyst in the newborn, causing obstruction, requiring surgery.

Congenital Giant Megaureter in a 16-Year-Old Female Presenting With Abdominal Pain: A Case Report and Review of Literature.

We describe a case of congenital giant megaureter in a 16-year-old female. She presented with a 5-day history of abdominal distention, right flank pain and tenderness. Right pyelonephritis was suspected. Computerized tomography showed a large cystic abdominal mass with no appreciably functioning left kidney causing secondary compression of the contralateral right ureter. A left upper nephroureterectomy was performed, draining over 3.5 L of fluid. Our experience suggests that congenital giant megaureter should be considered in the differential for pediatric patients presenting with a cystic abdominal mass.

Congenital segmental dilatation of the jejunum in an African child: a case report.

Congenital segmental dilatation of the intestine is a rare disease. It is rarely located in the jejunum and its etiology is still unknown despite many theories suggesting its mechanism. We report a case of a 17 months girl who experienced nonspecific symptoms (abdominal pain, constipation and loss of appetite) since early her infancy. She had no growth retardation and had moderate abdominal distension on physical examination. Investigations undertaken could not increase suspicion of congenital segmental dilatation of the intestine (CSDI). The diagnosis was made peroperatively and a resection was done, followed by end-to-end jejunal anastomosis. There were no postoperative complications and the patient is doing well after four months. One should think of CSDI in children with chronic subocclusion or digestive hemorrhage.

Differences in post-operative complications after reconstruction for congenital biliary dilatation in a single institution-Roux-en-Y hepaticojejunostomy versus hepaticoduodenostomy.

BACKGROUND: The standard surgical procedure for congenital biliary dilatation (CBD) consists of excision of extrahepatic bile duct and Roux-en-Y hepaticojejunostomy (HJ). However, alternative reconstructive operations for CBD includes hepaticoduodenostomy (HD). We compared postoperative complications and therapeutic outcomes of these two operations at our institution. METHODS: From 1981 to 2009, there were 23 traceable patients who underwent operation for CBD, They were divided into an HJ Group (n = 15) and an HD Group (n = 8). Demographic and outcome data were compared. RESULTS: There were no significant differences in postoperative complications (cholangitis, pancreatitis, and anastomotic stenosis) and current blood test data (AST, ALT, Total Bilirubin, Direct Bilirubin, Amylase) between the two groups. Current abdominal pain and carcinogenesis were not observed in either group. Intrahepatic stones occurred in one patient in each group, both > 25 years post-operation. CONCLUSION: HD is considered to be an acceptable reconstruction method compared to HJ, based on our results. There has been a suggestion that inadequate diversion in HD might increase the risk of cholangiocarcinoma. To date, in this series, that has not happened.

Antenatally detected urinary tract dilatation: a 12-15-year follow-up.

BACKGROUND: Antenatally diagnosed urinary tract dilatation (UTD) still burdens healthcare providers and parents. This study was conducted to establish long-term outcome in an unselected group of children with antenatally detected UTD. METHODS: Seventy-one out of 103 children born in 2003-2005 and diagnosed with antenatal UTD agreed to participate in a 12-15-year follow-up including blood and urine samples, a kidney ultrasound exam, and kidney scintigraphy. The records were searched for previous urinary tract infections. RESULTS: Among children with an anteroposterior diameter (APD) ≤ 7 mm and no calyceal, kidney, ureteral, or bladder pathology in the early postnatal period, no one tested had reduced estimated glomerular filtration rate (eGFR), albuminuria, or UTD at the follow-up at a mean age of 13.6 years. One child had kidney damage not affecting kidney function. Among children with postnatal APD > 7 mm and/or kidney, calyceal, ureteral, or bladder pathology, 15% had persistent UTD and 32-39% (depending on the method used) had kidney damage. Major postnatal urinary tract ultrasound abnormalities and a congenital anomalies of the kidney and urinary tract (CAKUT) diagnosis were factors associated with an increased risk for permanent kidney damage (odds ratios 8.9, p = 0.016; and 14.0, p = 0.002, respectively). No one had reduced eGFR. One child (1/71, 1%) had a febrile urinary tract infection after the age of 2. CONCLUSIONS: We conclude that in children with postnatal APD ≤ 7 mm, no calyceal dilatation, normal bladder, ureters, and kidney parenchyma, the outcome is excellent. There is no need for long-term follow-up in these patients.

Intraventricular Hemorrhage and Posthemorrhagic Ventricular Dilation: Current Approaches to Improve Outcomes.

Intraventricular hemorrhage (IVH) and posthemorrhagic ventricular dilation (PHVD) are important complications of prematurity with short- and long-term implications for the patient and for nursing care. Several approaches have been shown to reduce the incidence of IVH and, more recently, mitigate the impact of IVH on long-term neurodevelopment. This article discusses the pathophysiology of IVH, with a focus on prevention strategies. Posthemorrhagic ventricular dilation is a common complication of severe IVH and has implications for neurodevelopmental sequelae. Both surgical and nonsurgical interventions for PHVD are described.

Frequency of urinary tract infection in children with antenatal diagnosis of urinary tract dilatation.

BACKGROUND: Neonates with congenital urinary tract dilatation (UTD) may have an increased risk of urinary tract infections (UTI). At present, the management of these patients is controversial and the utility of continuous antibiotic prophylaxis (CAP) remains uncertain as the literature presents contradicting evidence. The aim of this observational study was to assess UTI occurrence in children with prenatal diagnosis of urinary collecting system dilatation without antibiotic prophylaxis. METHODS: Between June 2012 and August 2016, we evaluated the incidence of UTI and the clinical and ultrasonography evolution in 407 children with a prenatally diagnosed UTD. All subjects underwent two prenatal ultrasounds scans (USs) at 20 weeks and 30 weeks of gestation and within 1 month of birth. Patients with a confirmed diagnosis of UTD underwent US follow-up at 6, 12 and 24 months of life. According to the UTD classification system stratify risk, after birth UTD were classified into three groups: UTD-P1 (low risk group), UTD-P2 (intermediate risk group), and UTD-P3 (high risk group). Voiding cystourethrogram was performed in all patients who presented a UTI and in those with UTD-P3. No patient underwent CAP. RESULTS: Postnatal US confirmed UTD in 278 out of 428 patients with the following rates: UTD-P1 (126), UTD-P2 (95) and UTD-P3 (57). During postnatal follow-up, 6.83% patients presented a UTI (19 out of 278). Eleven out of 19 had vesicoureteral reflux (VUR), and other four were diagnosed with obstructive uropathy and underwent surgical correction. Five patients presented a UTI reinfection. CONCLUSION: The occurrence of UTI in patients with urinary collecting system dilatation was low. The recent literature reports an increased selection of multirestistant germs in patients with VUR exposed to CAP. This study constitutes a strong hint that routine continuous antibiotic prophylaxis could be avoided in patients with UTD.

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.

Preterm brain injury: Germinal matrix-intraventricular hemorrhage and post-hemorrhagic ventricular dilatation.

Germinal matrix hemorrhage and intraventricular hemorrhages (GMH-IVH) remain a common and clinically significant problem in preterm infants, particularly extremely preterm infants. A large GMH-IVH is often complicated by posthemorrhagic ventricular dilation (PHVD) or parenchymal hemorrhagic infarction and is associated with an increased risk of adverse neurologic sequelae. The widespread use of cranial ultrasonography since the early 1980s has shown a gradual decrease in the incidence of GMH-IVH and has helped with the identification of antenatal and perinatal risk factors and timing of the lesion. The increased use of magnetic resonance imaging (MRI) has contributed to more detailed visualization of the site and extent of the GMH-IVH. In addition, MRI has contributed to the awareness of associated white matter changes as well as associated cerebellar hemorrhages. Although GMH-IVH and PHVD still cannot be prevented, cerebrospinal fluid drainage initiated in the early stage of PHVD development seems to be associated with a better neurodevelopmental outcome. Further studies are underway to improve treatment strategies for PHVD and to potentially prevent and repair GMH-IVH and PHVD and associated brain injury. This chapter discusses the pathogenesis, incidence, risk factors, and management, including preventive measures, of GHM-IVH and PHVD.

Dilatation of the common channel in pediatric congenital biliary dilatation remaining after radical operation.

BACKGROUND: In congenital biliary dilatation, the protein plug is likely impacted, especially in a dilated common channel. However, nobody has discussed whether this dilatation of common channel remains after radical operation. The aim of this study was to investigate the situation of the dilated common channel after radical operation. METHODS: The status of the common channel was investigated at radical operation and follow-up. We then evaluated whether dilation of the common channel remained postoperatively. Moreover, the association between status of the common channel and postoperative pancreatic complication was evaluated. RESULTS: Postoperative condition of the common channel was able to be evaluated ultrasonographically in 42 patients. The common channel was dilated at the time of operation in 18 patients and remained dilated postoperatively in 11 of these 18 patients. Dilatation of the common channel was not identified in any patients without dilatation at the time of operation. No patients in this series showed any postoperative pancreatic complications, even if a dilated common channel remained. CONCLUSIONS: Dilatation of the common channel can remain postoperatively in congenital biliary dilatation, but does not appear to be associated with postoperative pancreatic complications.

Todani Ic cystic dilatation of the bile duct.

The congenital dilation of the bile duct is an infrequent pathology in western countries and is associated with the female sex. It is usually diagnosed clinically with complementary tests and evaluated at an early age and also appears frequently in adults. These dilatations are grouped into five types according to Todani's classification, including type Ic (Figure 1). The treatment of choice for dilatations of the biliary duct Todani type I is the complete excision of the biliary tract due to the susceptibility of malignant degeneration. A reconstruction is performed via a hepaticojejunostomy with a Roux-en-Y loop. Although in non-malignant cases, a papillotomy with prophylactic stent placement using ERCP can be performed as an alternative. We present the case of a 54-year-old female with a history of high blood pressure, she was examined due to generalized abdominal pain which was unrelated to food intake. The blood test did not identify any alterations of interest. Ultrasound identified a fusiform dilation of the common bile duct occupied by lithiasis. ERCP was attempted due to choledocholithiasis, but the procedure was abandoned as it was not feasible to channel the duodenal papilla. The study was completed with NMR cholangiography (transverse plane [Figure 2] and coronal plane [Figure 3]), identifying a diffuse fusiform dilatation of the common bile duct and common hepatic duct, compatible with congenital cystic lesion Todani type Ic. Finally, the patient underwent a hepaticojejunostomy after sectioning of the main bile duct and extraction of choledocholithiasis.

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.

Endoscopic biliary drainage management for children with serious cholangitis caused by congenital biliary dilatation.

Congenital biliary dilatation (CBD) is usually associated with complications such as recurrent cholangitis, manifested as abdominal pain, vomiting, and jaundice. If cholangitis cannot be controlled by conservative treatment, a good therapeutic effect can be obtained through percutaneous biliary drainage or open T-tube drainage. We aimed to evaluate our experiences in biliary drainage through endoscopic retrograde cholangiopancreatography in children with cholangitis caused by CBD. From January 2014 to December 2017, 167 children with CBD were treated in our hospital. 17 patients (10.18%) with serious cholangitis caused by CBD underwent ERCP. There were 4 males and 13 females with an age range of 10-120 months (average 56.4 months). Placement of a biliary stent was attempted for biliary drainage through endoscopic retrograde cholangiopancreatography. Of the 17 patients studied, 13 children had jaundice and 15 had elevated aminotransferases. ERCP showed CBD in all patients and a common biliopancreatic duct in 12 of 17 patients (70.6%). Five patients underwent nasobiliary drainage and 12 patients underwent biliary drainage through double pigtail tubes. All patients achieved successful biliary drainage. Postoperative pancreatitis occurred in one patient. Biochemical indicators decreased significantly in 12 patients (70.6%) on the second postoperative day. The average length of hospital stay after surgery was 4.5 (range 3-7) days. No major complications related to ERCP were observed and all children had a good prognosis so far. Endoscopic biliary drainage is a safe, simple, and reliable technique. It can be used to resolve CBD-associated cholangitis, evaluate the biliary tract and pancreatobiliary duct junction, and guide pediatric surgeons to choose the right time and the correct procedure for CBD.

[A Rare Cause of Perinatal Postrenal Failure with Megalourethra]. / Seltene Ursache eines Perinatalen Postrenalen Nierenversagens mit Megalourethra.

We present a case of a premature infant with a presumed obstructive uropathy found to be a megalourethra leading to a perinatal postrenal failure. A megalourethra - an uncommon cause of urethral dilatation - is a congenital, non-obstructive anomaly of the penile erectile tissue. We think that a distal stenosis resulted in dysplasia of the penile tissue and an aspect of a megalourethra. Further diagnostic workup included urinary tract sonograms, a voiding cystourethrogram and MAG3 scintigrafy. Initially the patient was managed with supportive care such as a suprapubic urinary catheter, followed by surgical intervention (Bengt Johanson).

Telomere length of gallbladder epithelium is shortened in patients with congenital biliary dilatation: measurement by quantitative fluorescence in situ hybridization.

BACKGROUND: Congenital biliary dilatation (CBD) is a congenital malformation involving both dilatation of the extrahepatic bile duct and pancreaticobiliary maljunction. Persistent reflux of pancreatic juice injures the biliary tract mucosa, resulting in chronic inflammation and higher rates of carcinogenesis in the biliary tract, including the gallbladder. Telomeres are repetitive DNA sequences located at the ends of chromosomes. Chromosomal instability due to telomere dysfunction plays an important role in the carcinogenesis of many organs. This study was performed to determine whether excessive shortening of telomeres occurs in the gallbladder mucosa of patients with CBD. METHODS: Resected gallbladders were obtained from 17 patients with CBD, ten patients with cholecystolithiasis without pancreatic juice reflux, and 17 patients with normal gallbladders (controls) (median age of each group of patients: 37, 50, and 53 years, respectively). The telomere lengths of the gallbladder epithelium were measured by quantitative fluorescence in situ hybridization using tissue sections, and the normalized telomere-to-centromere ratio (NTCR) was calculated. RESULTS: The NTCRs in the CBD, cholecystolithiasis, and control groups were 1.24 [interquartile range (IQR) 1.125-1.52], 1.96 (IQR 1.56-2.295), and 1.77 (IQR 1.48-2.53), respectively. The NTCR in the CBD group was significantly smaller than that in the cholecystolithiasis and control groups (p = 0.003 and 0.004, respectively), even in young patients. CONCLUSIONS: Our findings indicate that telomere shortening in the gallbladder mucosa plays an important role in the process of carcinogenesis in patients with CBD. These results support the recommendation of established guidelines for prophylactic surgery in patients with CBD because CBD is a premalignant condition with excessive telomere shortening.