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.
Adult* ; Alagille Syndrome* ; Alkaline Phosphatase ; Bile Ducts, Intrahepatic ; Cholestasis* ; Facies ; gamma-Glutamyltransferase ; Heart ; Heart Defects, Congenital ; Humans ; Liver ; Male ; Penetrance ; Pulmonary Artery ; Skeleton

No abstract available.
Cholangitis, Sclerosing ; Critical Illness ; Humans

A prognosis of hepatocellular carcinoma (HCC) with portal vein tumor thrombosis (PVTT) is dismal that the median survival is 2 to 4 months without treatment. Sorafenib, the standard regimen of advanced HCC, can prolong median survival only 1.5 months. A 50-year-old man with a history of chronic hepatitis B was diagnosed advanced HCC with PVTT. By a multidisciplinary medical team approach, the combination of 3-demensional conformal radiation therapy with sequential sorafenib was challenged. 4 months after initiation of treatment, he achieved partial response as modified response evaluation criteria in solid tumors criteria. Sorafenib was continued so far, and stable disease has been maintained up to now, without significant adverse effect.
Carcinoma, Hepatocellular* ; Hepatitis B, Chronic ; Humans ; Middle Aged ; Portal Vein* ; Prognosis* ; Response Evaluation Criteria in Solid Tumors ; Thrombosis

BACKGROUND/AIMS: The 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. METHODS: From 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. RESULTS: Among 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). CONCLUSIONS: Straining is a significant predictor for inadequate bowel preparation. For patients with straining during bowel movements, an intensified preparation regimen should be considered.
Colonoscopy ; Constipation ; Defecation ; Humans ; Logistic Models ; Multivariate Analysis ; Observational Study ; Prospective Studies ; Volunteers

Background/Aims: As pancreatic mucinous cystic neoplasms (MCNs) are considered premalignant lesions, the current guidelines recommend their surgical resection. We aimed to investigate the concordance between preoperative and postoperative diagnoses and evaluate preoperative clinical parameters that could predict the malignant potential of MCNs. Methods: Patients who underwent surgical resection at Samsung Medical Center for pancreatic cystic lesions and whose pathology was confirmed to be MCN, between July 2000 and December 2017, were retrospectively analyzed. Results: Among a total of 132 patients 99 (75%) were diagnosed with MCN preoperatively. The most discordant preoperative diagnosis was an indeterminate pancreatic cyst. The proportion of male patients was higher (24.2% vs 7.1%, p=0.05) in the diagnosis-discordance group and the presence of worrisome features in radiologic imaging studies, such as wall thickening/enhancement (12.1% vs 37.4%, p=0.02) or solid component/mural nodule (3.0% vs 27.3%, p=0.02), was lower in the diagnosis-discordance group. The presence of symptoms (57.7% vs 34.9%, p=0.02), tumor size greater than 4 cm (80.8% vs 55.7%, p=0.04), and radiologic presence of a solid component/mural nodule (42.3% vs 16.0%, p=0.01) or duct dilatation (19.2% vs 6.6%, p=0.01) were significantly associated with malignant MCNs. Conclusions In our study, the overall diagnostic concordance rate was confirmed to be 75%, and our findings suggest that MCNs have a low malignancy potential when they are less than 4cm in size, are asymptomatic and lack worrisome features on preoperative images.

Background/Aims: The combinatorial effects of prophylactic methods for postendoscopic retrograde cholangiopancreatography pancreatitis (PEP) in patients with risk factors remain unclear. In this network meta-analysis, we compared the efficacy of various prophylactic strategies to decrease the risk of PEP among patients with risk factors. Methods: A systematic review was performed to identify randomized controlled trials from PubMed, Embase, and the Cochrane Library through July 2021. We used frequentist network meta-analysis to compare the rates of PEP among patients who received prophylactic treatments as follows: class A, rectal nonsteroidal anti-inflammatory drugs; class B, prophylactic pancreatic stent; class C, aggressive hydration; or control, no prophylaxis or active control. We selected those studies that included patients with risk factors for PEP. Results: We identified 19 trials, comprising 4,328 participants. Class ABC (odds ratio [OR], 0.08; 95% confidence interval [CI], 0.03 to 0.24), class AC (OR, 0.10; 95% CI, 0.02 to 0.47), class AB (OR, 0.12; 95% CI, 0.05 to 0.26), class BC (OR, 0.13; 95% CI, 0.04 to 0.41), class A (OR, 0.16; 95% CI, 0.05 to 0.50), and class B (OR, 0.26; 95% CI, 0.14 to 0.46), were associated with a reduced risk of PEP as compared to that of the control. The most effective prophylaxis was ABC (0.87), followed by AC (0.68), AB (0.65), BC (0.56), A (0.49), and B (0.24) according to P-score. Conclusions The results of this network meta-analysis suggest that the more prophylactic methods are employed, the better the outcomes. It appears that for patients with risk factors, we need to prevent PEP through the use of these well proven combination strategies.

Background/Aims: Patients with active cancer frequently develop venous thromboembolism (VTE). However, there is little data about VTE in patients with advanced cholangiocarcinoma (CCA). Therefore, we investigated the clinical significance of VTE in patients with advanced CCA. Methods: We analyzed the data of a total of 332 unresectable CCA patients diagnosed between 2010 and 2020 in this retrospective study. We investigated the incidence and risk factors for VTE, and its effect on survival in patients with advanced CCA. Results: During a median follow-up of 11.6 months, 118 patients (35.5%) developed VTE. The cumulative incidence of VTE was 22.4% (95% confidence interval [CI], 0.18 to 0.27) at 3 months and 32.8% (95% CI, 0.27 to 0.38) at 12 months. Major vessel invasion was an independent risk factor for VTE (hazard ratio, 2.88; 95% CI, 1.92 to 4.31; p<0.001). Patients who developed VTE during follow-up had shorter overall survival than patients who did not (11.50 months vs 15.83 months, p=0.005). In multivariable analysis, VTE (hazard ratio, 1.58; 95% CI, 1.23 to 2.02;p<0.001) was associated with poor overall survival. Conclusions Major vessel invasion is related to the occurrence of VTE in advanced CCA. The development of VTE significantly decreases the overall survival and is an important unfavorable prognostic factor for survival.