Differential Effect of Genetic Burden on Disease Phenotypes in Crohn's Disease and Ulcerative Colitis in a Canadian Cohort.

BACKGROUND AND AIMS: Crohn's disease (CD) and ulcerative colitis (UC) demonstrate considerable phenotypic heterogeneity and course. Accurate predictors of disease behaviour are lacking. The contribution of genetics and specific polymorphisms is widely appreciated; however, their cumulative effect(s) upon disease behaviour remains poorly understood. Here, we investigate the relationship between genetic burden and disease phenotype in a Canadian inflammatory bowel disease (IBD) Cohort. METHODS: We retrospectively examined a cohort of CD and UC patients recruited from a single tertiary referral center genotyped using a Goldengate Illumina platform. A genetic risk score (GRS) incorporating strength of association (log odds ratio) and allele dose for 151 IBD-risk loci was calculated and evaluated for phenotypic associations. RESULTS: Among CD patients, higher GRS was associated with earlier onset of disease (regression coefficient -2.19, 95% confidence interval [CI] -3.77 to -0.61, P = 0.007), ileal disease (odds ratio [OR] 1.45), stricturing/penetrating disease (OR 1.72), perianal disease (OR 1.57) and bowel resection (OR 1.66). Higher GRS was associated with use of anti-tumor necrosis factor (TNF) (P < 0.05) but not immunomodulators. Interestingly, we could not demonstrate an association between higher GRS and family history of IBD (OR 1.27, P = 0.07). Onset of disease remained statistically significant for never smokers (P = 0.03) but not ever smokers (P = 0.13). For UC, having a higher GRS did not predict the age of diagnosis nor was it predictive of UC disease extent (P = 0.18), the need for surgery (P = 0.74), nor medication use (immunomodulators P = 0.53, anti-TNF P = 0.49). We could not demonstrate an association between increased GRS and having a family history of IBD in the UC group. CONCLUSIONS: Increasing genetic burden is associated with early age of diagnosis in CD and may be useful in predicting disease behaviour in CD but not UC.

Diagnóstico diferencial de obstrucción del íleon distal en mujeres jóvenes. ¿Cuál es el rol de la enterorresonancia? / Differential diagnosis of distal ileal obstruction in young women What is the role of magnetic resonance enterography?

Resumen La obstrucción intestinal en pacientes jóvenes es poco frecuente. La mayor parte de los casos se presentan en mujeres jóvenes (premenopáusicas) y suelen estar relacionados a enfermedad inflamatoria intestinal tipo enfermedad de Crohn, o endometriosis con compromiso intestinal. En esta serie de casos presentamos tres pacientes mujeres en etapa reproductiva, con síntomas de obstrucción intestinal, quienes tienen patologías y desenlaces diferenciales. En el abordaje inicial de la obstrucción, se realizó enterorresonancia. Hacemos la presentación de casos, discusión y revisión de la literatura del diagnóstico diferencial de la estenosis en íleon distal y del uso de la enterorresonancia en ese escenario.(Acta Med Colomb 2020; 45. DOI:https://doi.org/10.36104/amc.2020.1327).

Abstract Intestinal obstruction is uncommon in young patients. Most cases present in young (premenopausal) women and tend to be related to inflammatory intestinal disease such as Crohn's disease or endometriosis with intestinal involvement. In this case series we present three female patients of reproductive age with intestinal obstruction symptoms who have differential diseases and outcomes. The initial approach to the obstruction included magnetic resonance enterography. We present the cases, discussion and review of the literature on the differential diagnosis of distal ileal stenosis and the use of magnetic resonance enterography in this scenario.(Acta Med Colomb 2020; 45. DOI:https://doi.org/10.36104/amc.2020.1327).

Analysis of risk factors - especially different types of plexitis - for postoperative relapse in Crohn's disease.

AIM: To evaluate the presence of submucosal and myenteric plexitis and its role in predicting postoperative recurrence. METHODS: Data from all patients who underwent Crohn's disease (CD)-related resection at the University of Szeged, Hungary between 2004 and 2014 were analyzed retrospectively. Demographic data, smoking habits, previous resection, treatment before and after surgery, resection margins, neural fiber hyperplasia, submucosal and myenteric plexitis were evaluated as possible predictors of postoperative recurrence. Histological samples were analyzed blinded to the postoperative outcome and the clinical history of the patient. Plexitis was evaluated based on the appearance of the most severely inflamed ganglion or nerve bundle. Patients underwent regular follow-up with colonoscopy after surgery. Postoperative recurrence was defined on the basis of endoscopic and clinical findings, and/or the need for additional surgical resection. RESULTS: One hundred and four patients were enrolled in the study. Ileocecal, colonic, and small bowel resection were performed in 73.1%, 22.1% and 4.8% of the cases, respectively. Mean disease duration at the time of surgery was 6.25 years. Twenty-six patients underwent previous CD-related surgery. Forty-three point two percent of the patients were on 5-aminosalicylate, 20% on corticosteroid, 68.3% on immunomodulant, and 4% on anti-tumor necrosis factor-alpha postoperative treatment. Postoperative recurrence occurred in 61.5% of the patients; of them 39.1% had surgical recurrence. 92.2% of the recurrences developed within the first five years after the index surgery. Mean disease duration for endoscopic relapse was 2.19 years. The severity of submucosal plexitis was a predictor of the need for second surgery (OR = 1.267, 95%CI: 1.000-1.606, P = 0.050). Female gender (OR = 2.21, 95%CI: 0.98-5.00, P = 0.056), stricturing disease behavior (OR = 3.584, 95%CI: 1.344-9.559, P = 0.011), and isolated ileal localization (OR = 2.671, 95%CI: 1.033-6.910, P = 0.043) were also predictors of postoperative recurrence. No association was revealed between postoperative recurrence and smoking status, postoperative prophylactic treatment and the presence of myenteric plexitis and relapse. CONCLUSION: The presence of severe submucosal plexitis with lymphocytes in the proximal resection margin is more likely to result in postoperative relapse in CD.

A Case of Recurrent Intestinal Obstruction Caused by Meckel's Diverticulum / 대한소화기학회지

Meckel's diverticulum is the most common anomaly of the intestine. It is usually asymptomatic but approximately 4% are symptomatic with complications such as bleeding, intestinal obstruction, and inflammation. Gastrointestinal bleeding is the most common presenting symptoms of Meckel's diverticulum in children, however, intestinal obstruction is the most common complications in adult patients. Reported mechanism of intestinal obstruction in Meckel's diverticulum include intussusception, adhesion, and volvulus. Recently, we experienced a case with Meckel's diverticulum associated with ileal stricture causing recurrent partial intestinal obstruction in a 48-year-old man. In contrast to other published cases of small bowel obstruction in Meckel's diverticulum, this case was caused by ileal stricture associated with Meckel's diverticulum.