Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report.

Hereditary hemorrhagic telangiectasis (HHT) and juvenile polyposis syndrome (JPS) are both relatively rare hereditary disorders. It has been reported that patients with SMAD4 mutations may suffer from both HHT and JPS, defined as JPS/HHT. To improve the understanding and diagnosis of these diseases, we herein report a case of a 17-year-old male with abdominal pain and hematochezia. Low-tension computed tomography (CT) of the small intestine showed intussusception. Combined with the patient's medical history of nasal bleeding and pulmonary arteriovenous fistula (pAVF) embolism, a final diagnosis of JPS/HHT was reached, according to the Curaçao Diagnostic Criteria. The possibility of JPS/HHT should be considered in patients with epistaxis and intussusception.

Global research trends of immunotherapy and biotherapy for inflammatory bowel disease: a bibliometric analysis from 2002 to 2021.

BACKGROUND: It is known that inflammatory bowel disease is the result of a defective immune system, and immunotherapy and biological therapy have gradually become important means to treat it. This paper focused on the bibliometric statistical analysis of the current research progress to summarize the research status of this field and analyze the research trends in recent years. METHODS: Two visualization tools, CiteSpace and VOSviewer, were used to explore the data of journals, institutions, countries/regions, authors, references, and keywords for the literature included in the Web of Science Core Collection from January 1, 2002, to December 31, 2021. RESULTS: A total of 312 papers were published in 120 journals by 603 institutions from 40 countries/regions, with 9463 co-cited references. The United States has the most publications with the highest total citations in the world. Inflammatory Bowel Diseases published the maximum number of papers, and Gastroenterology devoted the most co-citations to immunotherapy and biological therapy for IBD. In addition, we found that the studies before 2009 mostly focused on clinical trials while researchers have paid more attention to clinical management in therapy for IBD since 2009. Combination therapy and management of the treatment for the disease have become research hotspots. CONCLUSION: The focus of immunotherapy and biotherapy for IBD has shifted from clinical trials to the management of the risks and benefits of immunotherapy.

Second-look endoscopy-guided therapy under sedation prevents early rebleeding after variceal ligation for acute variceal bleeding.

OBJECTIVES: To investigate whether second-look endoscopy (SLE)-guided therapy could be used to prevent post-endoscopic variceal ligation (EVL) early bleeding. METHODS: Consecutive cirrhotic patients with large esophageal varices (EV) receiving successful EVL for acute variceal bleeding (AVB) or secondary prophylaxis were enrolled. The patients were randomized into a SLE group and a non-SLE group (NSLE) 10 days after EVL. Additional endoscopic interventions as well as proton pump inhibitors and octreotide administration were applied based on the SLE findings. The post-EVL early rebleeding and mortality rates were compared between the two groups. RESULTS: A total of 252 patients were included in the final analysis. Post-EVL early rebleeding (13.5% vs 4.8%, P = 0.016) and bleeding-caused mortality (4.8% vs 0%, P = 0.013) were more frequently observed in the NSLE group than in the SLE group. However, post-EVL early rebleeding and mortality rates were reduced by SLE in patients receiving EVL for AVB only but not in those receiving secondary prophylaxis. Patients with Child-Pugh classification B to C at randomization (hazard ratio [HR] 8.77, P = 0.034), AVB at index EVL (HR 3.62, P = 0.003), discontinuation of non-selective ß-blocker after randomization (HR 4.68, P = 0.001) and non-SLE (HR 2.63, P = 0.046) were more likely to have post-EVL early rebleeding. No serious adverse events occurred during SLE. CONCLUSION: SLE-guided therapy reduces post-EVL early rebleeding and mortality rates in cirrhotic patients with large EV receiving EVL for AVB.

Characteristics of mucosa-associated gut microbiota during treatment in Crohn's disease.

BACKGROUND: The dysbiosis of the gut microbiome is evident in Crohn's disease (CD) compared with healthy controls (HC), although the alterations from active CD to remission after treatment are unclear. AIM: To characterize the mucosa-associated gut microbiota in patients with CD before and after the induction therapy. METHODS: The basic information was collected from the subjects and the CD activity index (CDAI) was calculated in patients. A 16S rRNA sequencing approach was applied to determine the structures of microbial communities in mucosal samples including the terminal ileal, ascending colon, descending colon and rectum. The composition and function of mucosa-associated gut microbiota were compared between samples from the same cohort of patients before and after treatment. Differential taxa were identified to calculate the microbial dysbiosis index (MDI) and the correlation between MDI and CDAI was analyzed using Pearson correlation test. Predictive functional profiling of microbial communities was obtained with PICRUSt. RESULTS: There were no significant differences in microbial richness among the four anatomical sites in individuals. Compared to active disease, the alpha diversity of CD in remission was increased towards the level of HC compared to the active stage. The principal coordinate analysis revealed that samples of active CD were clearly separated from those in remission, which clustered close to HC. Sixty-five genera were identified as differentially abundant between active and quiescent CD, with a loss of Fusobacterium and a gain of potential beneficial bacteria including Lactobacillus, Akkermansia, Roseburia, Ruminococcus and Lachnospira after the induction of remission. The combination of these taxa into a MDI showed a positive correlation with clinical disease severity and a negative correlation with species richness. The increased capacity for the inferred pathways including Lipopolysaccharide biosynthesis and Lipopolysaccharide biosynthesis proteins in patients before treatment negatively correlated with the abundance of Roseburia, Ruminococcus and Lachnospira. CONCLUSION: The dysbiosis of mucosa-associated microbiota was associated with the disease phenotype and may become a potential diagnostic tool for the recurrence of disease.

Differences in clinical features of Crohn's disease and intestinal tuberculosis.

AIM: To investigate the clinical features of Crohn's disease (CD) and intestinal tuberculosis (ITB) with a scoring system that we have developed. METHODS: A total of 25 CD and 40 ITB patients were prospectively enrolled from August 2011 to July 2012. Their characteristics and clinical features were recorded. Laboratory, endoscopic, histologic and radiographic features were determined. The features with a high specificity were selected to establish a scoring system. The features supporting CD scored +1, and those supporting ITB scored -1; each patient received a final total score. A receiver operating characteristic (ROC) curve was used to determine the best cut-off value for distinguishing CD from ITB. RESULTS: Based on a high specificity of differentiating between CD and ITB, 12 features, including longitudinal ulcers, nodular hyperplasia, cobblestone-like mucosa, intestinal diseases, intestinal fistula, the target sign, the comb sign, night sweats, the purified protein derivative test, the interferon-γ release assay (T-SPOT.TB), ring ulcers and ulcer scars, were selected for the scoring system. The results showed that the average total score of the CD group was 3.12 ± 1.740, the average total score of the ITB group was -2.58 ± 0.984, the best cutoff value for the ROC curve was -0.5, and the diagnostic area under the curve was 0.997, which was statistically significant (P < 0.001). The patients whose total scores were higher than -0.5 were diagnosed with CD; otherwise, patients were diagnosed with ITB. Overall, the diagnostic accuracy rate and misdiagnosis rate of this scoring system were 97% and 3%, respectively. CONCLUSION: Some clinical features are valuable for CD and ITB diagnosis. The described scoring system is key to differentiating between CD and ITB.

Computed tomographic enterography adds value to colonoscopy in differentiating Crohn's disease from intestinal tuberculosis: a potential diagnostic algorithm.

BACKGROUND: Crohn's disease and intestinal tuberculosis (ITB) are chronic granulomatous disorders that are difficult to distinguish. Computed tomographic enterography (CTE) yields striking findings for Crohn's disease in the small bowel but its role in differentiating Crohn's from ITB is undefined. This prospective study aimed to investigate the value of CTE for differential diagnosis between Crohn's disease and ITB. PATIENTS AND METHODS: 105 consecutive patients (67 Crohn's, 38 ITB) who underwent CTE and colonoscopy were enrolled. CTE findings and colonoscopic parameters were compared between Crohn's disease and ITB by blinded reviewers. Based on univariate and multiple logistic regression analyses, a diagnostic algorithm combining colonoscopy and CTE was formulated. and its performance validated on 60 new patients (40 Crohn's, 20 ITB). RESULTS: On univariate analysis of CTE findings, proximal small-bowel involvement, asymmetrical mural thickening, segmental small-bowel lesions, mural stratification, the comb sign, and mesentery fibrofatty proliferation were significantly more common in Crohn's disease, whereas mesenteric lymph node change (calcification or central necrosis) and focal ileocecal lesions were more common in ITB. On multivariate analysis, segmental small-bowel involvement (odds ratio [OR] 0.104, 95 % confidence interval [95 %CI] 0.022 - 0.50), and comb sign (OR 0.02, 95 %CI 0.003 - 0.26) were independent predictors of Crohn's. Combining CTE and colonoscopic findings increased the accuracy of diagnosing either Crohn's disease or ITB from 66.7 % (70/105) to 95.2 % (100/105) in the development set (P < 0.001). Sensitivity, specificity, and area under the curve for receiver-operating characteristic (ROC) in the validation dataset were 92.5 %, 80 %, and 0.862 (95 %CI 0.75 - 0.98), respectively. CONCLUSIONS: CTE adds unique information to colonoscopy in differential diagnosis between Crohn's disease and ITB, allowing correct diagnosis in most patients.