Humans ; Diagnosis, Differential ; Constriction, Pathologic/diagnosis* ; Bile Duct Neoplasms/diagnosis* ; Endoscopy, Digestive System

OBJECTIVE: To explore the genetic basis for three fetuses with duodenal atresia or stenosis detected by ultrasonography. METHODS: Clinical data of three fetuses identified at the Women's Hospital Affiliated to Zhejiang University School of Medicine between January 2021 and August 2022 were collected. Umbilical cord blood and amniotic fluid samples of the fetuses and peripheral blood samples of their parents were collected and subjected to G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP array) analysis. RESULTS: Prenatal ultrasound of the three fetuses revealed duodenal atresia or stenosis. No karyotypic abnormality was detected, whilst SNP array has identified 1.4 ~ 1.9 Mb duplications at 17q12 in all of them, which were all predicted to be pathogenic copy number variations (CNVs). CONCLUSION The 17q12 duplications probably underlay the duodenal atresia and stenosis in these fetuses, and chromosomal CNVs should be considered in duodenal atresia and stenosis.
Pregnancy ; Humans ; Female ; DNA Copy Number Variations ; Constriction, Pathologic ; Prenatal Diagnosis ; Fetus/diagnostic imaging* ; Chromosome Aberrations

What are the new contents of the guideline since 2010?A.Patients with primary and non-primary sclerosing cholangitis (PSC) are included in these guidelines for the diagnosis and management of cholangiocarcinoma.B.Define "related stricture" as any biliary or hepatic duct stricture accompanied by the signs or symptoms of obstructive cholestasis and/or bacterial cholangitis.C.Patients who have had an inconclusive report from MRI and cholangiopancreatography should be reexamined by high-quality MRI/cholangiopancreatography for diagnostic purposes. Endoscopic retrograde cholangiopancreatography should be avoided for the diagnosis of PSC.D. Patients with PSC and unknown inflammatory bowel disease (IBD) should undergo diagnostic colonoscopic histological sampling, with follow-up examination every five years until IBD is detected.E. PSC patients with IBD should begin colon cancer monitoring at 15 years of age.F. Individual incidence rates should be interpreted with caution when using the new clinical risk tool for PSC for risk stratification.G. All patients with PSC should be considered for clinical trials; however, if ursodeoxycholic acid (13-23 mg/kg/day) is well tolerated and after 12 months of treatment, alkaline phosphatase (γ- Glutamyltransferase in children) and/or symptoms are significantly improved, it can be considered to continue to be used.H. Endoscopic retrograde cholangiopancreatography with cholangiocytology brushing and fluorescence in situ hybridization analysis should be performed on all patients suspected of having hilar or distal cholangiocarcinoma.I.Patients with PSC and recurrent cholangitis are now included in the new unified network organ sharing policy for the end-stage liver disease model standard.J. Liver transplantation is recommended after neoadjuvant therapy for patients with unresectable hilar cholangiocarcinoma with diameter < 3 cm or combined with PSC and no intrahepatic (extrahepatic) metastases.
Child ; Humans ; Cholangitis, Sclerosing/diagnosis* ; Constriction, Pathologic/complications* ; In Situ Hybridization, Fluorescence ; Cholangiocarcinoma/therapy* ; Liver Diseases/complications* ; Cholestasis ; Inflammatory Bowel Diseases/therapy* ; Bile Ducts, Intrahepatic/pathology* ; Bile Duct Neoplasms/therapy*

OBJECTIVES: To study the clinical and bronchoscopic characteristics of tracheobronchial tuberculosis (TBTB) in children and to identify factors influencing residual airway obstruction or stenosis. METHODS: The clinical data of children with TBTB were retrospectively collected. The children were divided into two groups based on the last bronchoscopic result within one year of follow-up: a group with residual airway obstruction or stenosis (n=34) and a group without residual airway obstruction or stenosis (n=58). A multivariate logistic regression analysis was used to identify the factors influencing residual airway obstruction or stenosis in children with TBTB. Receiver operating characteristic (ROC) curves were used to analyze the predictive value of the factors influencing residual airway obstruction or stenosis in children with TBTB. RESULTS: A total of 92 children with TBTB were included, and the main symptoms were cough (90%) and fever (68%). In children under 1 year old, the incidence rates of dyspnea and wheezing were significantly higher than in other age groups (P<0.008). Chest CT findings included mediastinal or hilar lymph node enlargement (90%) and tracheobronchial stenosis or obstruction (61%). The lymphatic fistula type was the main type of TBTB observed bronchoscopically (77%). All children received interventional treatment, and the effective rate was 84%. During one year of follow-up, 34 children had residual airway obstruction or stenosis. The TBTB diagnostic time and the initiation of interventional treatment were significantly delayed in the group with residual airway obstruction or stenosis compared with the group without residual airway obstruction or stenosis (P<0.05). The multivariate logistic regression analysis showed that the TBTB diagnostic time was closely related to residual airway obstruction or stenosis in children (P<0.05). ROC curve analysis showed that at the cut-off value of 92 days of TBTB diagnostic time, the area under the curve for predicting residual airway obstruction or stenosis in children with TBTB was 0.707, with a sensitivity of 58.8% and a specificity of 75.9%. CONCLUSIONS The clinical manifestations of TBTB are nonspecific, and symptoms are more severe in children under 1 year old. TBTB should be suspected in children with tuberculosis and chest imaging indicating airway involvement. Delayed diagnosis of TBTB is associated with the development of residual airway obstruction or stenosis.
Infant ; Child ; Humans ; Bronchoscopy/methods* ; Constriction, Pathologic/complications* ; Bronchial Diseases/therapy* ; Retrospective Studies ; Tuberculosis/diagnosis* ; Airway Obstruction/therapy*

Lumbar foraminal pathology causing entrapment of neurovascular contents and radicular symptoms are commonly associated with foraminal stenosis. Foraminal neuropathy can also be derived from inflammation of the neighboring lateral recess or extraforaminal spaces. Conservative and interventional therapies have been used for the treatment of foraminal inflammation, fibrotic adhesion, and pain. This update reviews the anatomy, pathophysiology, clinical presentation, diagnosis, and current treatment options of foraminal neuropathy.
Constriction, Pathologic ; Decompression ; Diagnosis ; Electric Stimulation ; Fibrosis ; Foraminotomy ; Ganglia, Spinal ; Inflammation ; Lumbosacral Region ; Pain Management ; Pathology ; Radiculopathy ; Spinal Nerve Roots

Shone complex is a rare congenital disorder that involves 4 obstructive lesions of the left heart, as follows: parachute mitral valve, supravalvular mitral ring, subaortic stenosis, and coarctation of the aorta. Incomplete forms with 2 or 3 of these lesions in adult patients have been rarely reported in the literature, meaning that insufficient general data exist concerning the surgical strategy and clinical follow-up. Herein, we report the case of a 31-year-old woman with a diagnosis of incomplete form of Shone complex with parachute mitral valve and coarctation of the aorta who underwent successful single-stage surgical repair.
Adult ; Aortic Coarctation ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Constriction, Pathologic ; Diagnosis ; Female ; Follow-Up Studies ; Heart ; Heart Defects, Congenital ; Humans ; Mitral Valve

STUDY DESIGN: A retrospective comparative analysis of 64 patients with cauda equina syndrome (CES), who underwent either decompression alone (NF) or fusion (F) surgery. PURPOSE: We compared the outcomes and timing effects. OVERVIEW OF LITERATURE: CES can cause loss of autonomic control of vesicular function and lower limb neurological deficits. Prompt diagnosis and emergency surgery markedly improve outcome. Although decompression only is a mainstream technique, there is guarded recovery of vesicular dysfunction. Decompression ventrally in a narrow window requires manipulation of neural tissue in an already jeopardised critical canal and may accentuate irreversible damages. In F surgery, the adequate exposure leads to a lower neural manipulation. METHODS: Until January 2008, we treated CES with decompression (laminectomy and/or discectomy). However, from that month forward, all our single-level CES patients have received a fusion operation. In this study, characteristic categorical variables and outcomes were analysed. RESULTS: In a retrospective analysis of 64 patients, NF (n=37) and F (n=27) who received treatment, we found that both groups improved significantly on follow-up in all objective parameters. Although, the comparison of clinical and functional outcome data between the two groups was statistically insignificant, the average value of objective outcome such as vesicular function, low back pain (LBP), and complications was better for patients in F group compared with NF group. However, the patient satisfaction for the F group was also lower, in view of their residual symptoms and disabilities. Contrary to common perceptions, we found that the timing of surgery does not influence the recovery rate for either approach. CONCLUSIONS: Although both the techniques appear to be equally effective, the fusion approach overall showed a definite edge over non-fusion, with respect to reduced incidence of iatrogenic dural tears, LBP, and overall outcome, even despite the lower patient satisfaction.
Cauda Equina ; Constriction, Pathologic ; Decompression ; Diagnosis ; Diskectomy ; Emergencies ; Follow-Up Studies ; Humans ; Incidence ; Intervertebral Disc Displacement ; Low Back Pain ; Lower Extremity ; Patient Satisfaction ; Polyradiculopathy ; Retrospective Studies ; Spinal Fusion ; Tears

BACKGROUND/AIMS: Pathological diagnosis of biliary strictures with atypical or suspicious cells on endoscopic retrograde brush cytology and indeterminate strictures on imaging is challenging. The aim of this study was to identify markers for malignant strictures in such cases. METHODS: We retrospectively analyzed data collected from 146 consecutive patients with indeterminate biliary strictures on imaging who underwent endoscopic retrograde brush cytology from 2007 to 2013. Factors associated with malignant strictures in patients with atypical or suspicious cells on brush cytology were identified. RESULTS: Among the 67 patients with a malignant disease (48 cholangiocarcinoma, 6 gallbladder cancer, 5 pancreatic cancer, 5 ampulla of Vater cancer, and 3 other types), 36 (53.7%) had atypical or suspicious cells on brush cytology. Among these, the factors that independently correlated with malignant strictures were stricture length (odds ratio [OR], 5.259; 95% confidence interval [CI], 1.802– 15.294) and elevated carbohydrate antigen 19-9 (CA19-9) (OR, 3.492; 95% CI, 1.242–9.815), carcinoembryonic antigen (CEA) (OR, 4.909; 95% CI, 1.694–14.224), alkaline phosphatase (ALP) (OR, 3.362; 95% CI, 1.207–9.361), and gamma-glutamyl transpeptidase (rGT) (OR, 4.318; 95% CI, 1.512–12.262). CONCLUSIONS: Elevated levels of CA19-9, CEA, ALP, and rGT and stricture length are associated with malignant strictures in patients with indeterminate biliary strictures on imaging and atypical or suspicious cells on brush cytology.
Alkaline Phosphatase ; Ampulla of Vater ; Carcinoembryonic Antigen ; Cholangiocarcinoma ; Constriction, Pathologic ; Diagnosis ; Gallbladder Neoplasms ; gamma-Glutamyltransferase ; Humans ; Pancreatic Neoplasms ; Retrospective Studies

Sclerosing cholangitis (SC) is defined as a condition with progressive stenosis and destruction of the bile ducts due to diffuse inflammation and fibrosis and currently includes three categories: primary sclerosing cholangitis (PSC), secondary cholangitis, and IgG4-related sclerosing cholangitis (IgG4-SC). SC categories share similar clinical features, such as cholestasis. Patients with SC present with cholestatic symptoms, including jaundice and pruritus, and blood tests reveal elevation of cholestatic enzymes. Cholangiography, endoscopic or magnetic, is inevitably required for making a diagnosis. Although the presentation of IgG4-SC and PSC are similar, the comorbidities, treatment response, and outcomes differ significantly, and therefore, it is strongly advisable to be familiar with these two diseases to make a correct diagnosis. Differentiation of cholangiocarcinoma from IgG4-SC and PSC is also extremely important. In this review, the clinical characteristics, comorbidities, treatment and outcomes of IgG4-SC and PSC will be outlined based on experience mainly from Japan.
Bile Ducts ; Cholangiocarcinoma ; Cholangiography ; Cholangitis ; Cholangitis, Sclerosing ; Cholestasis ; Comorbidity ; Constriction, Pathologic ; Diagnosis ; Fibrosis ; Hematologic Tests ; Humans ; Immunoglobulin G ; Inflammation ; Japan ; Jaundice ; Pruritus

BACKGROUND/AIMS: It remains uncertain which patients with stricturing-type Crohn's disease (CD) require early small bowel surgery after the initial diagnosis. We aimed to clarify clinical characteristics associated with the intervention in such condition of CD. METHODS: We retrospectively evaluated the clinical course of 53 patients with CD and small bowel strictures who were initially treated with medications after the initial diagnosis. We investigated possible associations between small bowel surgery and the following: clinical factors and radiologic findings at initial diagnosis and the types of medications administered during follow-up. RESULTS: Twenty-eight patients (53%) required small bowel resection during a median follow-up period of 5.0 years (range, 0.5–14.3 years). The cumulative incidence rates of small bowel surgery at 2, 5, and 10 years were 26.4%, 41.0%, and 63.2%, respectively. Univariate analysis indicated that obstructive symptoms (P=0.036), long-segment stricture (P<0.0001), and prestenotic dilation (P<0.0001) on radiography were associated with small bowel surgery, and immunomodulatory (P=0.037) and biological therapy (P=0.008) were significant factors during follow-up. Multivariate analysis revealed that long-segment stricture (hazard ratio [HR], 4.25; 95% confidence interval [CI], 1.78–10.53; P=0.001) and prestenotic dilation (HR, 3.41; 95% CI, 1.24–9.62; P=0.018) on radiography showed a positive correlation with small bowel surgery, and biological therapy (HR, 0.40; 95% CI, 0.15–0.99; P=0.048) showed a negative correlation. CONCLUSIONS: CD patients with long-segment stricture and prestenotic dilation on radiography seem to be at a higher risk of needing small bowel surgery. For such patients, early surgical intervention might be appropriate, even at initial diagnosis.
Biological Therapy ; Constriction, Pathologic ; Crohn Disease ; Diagnosis ; Follow-Up Studies ; Humans ; Incidence ; Intestine, Small ; Multivariate Analysis ; Radiography ; Retrospective Studies