Alagille syndrome (AGS) is a complex multisystem disorder that involves mainly the liver, heart, eyes, face, and skeleton. The main associated clinical features are chronic cholestasis due to a paucity of intrahepatic bile ducts, congenital heart disease primarily affecting pulmonary arteries, vertebral abnormalities, ocular embryotoxon, and peculiar facies. The manifestations generally become evident at a pediatric age. AGS is caused by defects in the Notch signaling pathway due to mutations in JAG1 or NOTCH2. It is inherited in an autosomal dominant pattern with a high degree of penetrance, but variable expressivity results in a wide range of clinical features. Here we report on a 31-year-old male patient who presented with elevated serum alkaline phosphatase and gamma-glutamyl transpeptidase, and was diagnosed with AGS associated with the JAG1 mutation after a comprehensive workup.
Background/AimsThe quality of bowel preparation is important for optimal colonoscopy. It is influenced by medical and personal factors. We aimed to evaluate the effect of bowel habit on the quality of bowel preparation and to identify predictors of inadequate bowel preparation among bowel habit factors.MethodsFrom June 2017 to September 2017, 90 volunteers were enrolled in this study. Each participant answered a questionnaire consisting of multiple questions about personal bowel habits, including stool form, frequency of bowel movements per week, duration, and degree of straining for bowel movement. Then, all volunteers underwent colonoscopic exam. Eleven endoscopists performed colonoscopies and used the Boston Bowel Preparation Scale (BBPS) as the index for bowel preparation. Two expert endoscopists simultaneously reviewed all colonoscopic images to confirm the final BBPS. Univariate and multivariate logistic regression analyses were performed to verify the correlation between bowel preparation adequacy and bowel habit.ResultsAmong the 90 participants, 20 (22.2%) had inadequate bowel preparation (total BBPS ≤6 or any segmental BBPS ≤1). In univariate analysis, infrequent bowel movement (0–2/week) (odds ratio [OR], 12.60; 95% confidence interval [CI], 1.22 to 129, p=0.03) and moderate straining (more than 1/4 of defecations) (OR, 4.40; 95% CI, 1.44 to 13.39; p=0.01) were significantly associated with inadequate bowel preparation. However, only moderate straining was significantly associated with inadequate bowel preparation in multivariate analysis (OR, 3.99; 95% CI, 1.26 to 12.65; p=0.02).ConclusionsStraining is a significant predictor for inadequate bowel preparation. For patients with straining during bowel movements, an intensified preparation regimen should be considered.
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