Genetic and electrophysiological characteristics of recurrent acute pancreatitis.

OBJECTIVES: The aim was to present the workup of patients with acute recurrent pancreatitis (ARP) for genetic analysis and electrophysiological testing. METHODS: Patients with ARP with unknown etiology were referred for genetic testing and evaluation of cystic fibrosis transmembrane conductor regulator (CFTR) function by nasal potential difference (NPD) testing. RESULTS: A total of 67 patients were evaluated. The mean age was 23 ±â€Š17 years (median 17.0 years, range 1.5-72 years); 90% were Jewish and 10% Arab. Ten (15%) patients carried PRSS1 gene mutation (K23R(7), R122H(2), and D21A(1)). One patient had K172E/- (chymotrypsin C [CTRC]) mutation, 1 had I42M (serine protease inhibitor Kazal type 1 [SPINK1])/V235I (CTRC) together with ΔF508/5T, 1 patient had R67H (SPINK1)/V235I (CTRC), and 1 patient had V235I (CTRC)/-. Ten of 67 (15%) patients submitted for CFTR gene testing carried mutations (ΔF508/L997F, ΔF508/5T(11TG), W1282/5T(12TG), W1282X/Y1014C, ΔF508/R31C, R117H/-, R117H/Y1014C, D1152H/-, 5T(11TG)/-, and L997F/-). Fifty-four (80%) patients underwent sweat testing. Of these, 5 had sweat chloride ≥60 mEq/L, and 22 patients had sweat chloride from 40 to 60 mEq/L. Of the 56 (83%) patients had nasal potential difference testing, 4 (6%) with abnormal results. CONCLUSIONS: One-third (34%) of patients with ARP carry mutations for hereditary pancreatitis including rare mutations (K23R), and 12.5% have evidence of cftr mutations and 10% had CFTR dysfunction underscoring the importance of genetic and functional workup of these patients.

[BILE DUCT PROBLEMS - ENDOSCOPIC SOLUTIONS].

Patients with symptomatic bile duct stones are at increased risk for complications, which can be life-threatening. In the last four decades, with the development of endoscopic retrograde cholangiopancreatography (ERCP) and biliary sphincterotomy, endoscopic treatment has almost totally replaced surgical treatment of bile duct stones. In addition, a variety of benign and malignant conditions such as iatrogenic strictures (post cholecystectomy/post liver transplant), PSC, papillary adenoma or malignant tumors of bile duct or pancreas, are now amenable to endoscopic treatment. In the early years, ERCP served as a diagnostic and therapeutic tool With the development of non-invasive imaging alternatives, ERCP became a purely therapeutic procedure. However, in recent years, advanced technologies have restored diagnostic abilities to FRCP.

[LAPAROSCOPIC APPROACH AND SURGICAL CONSIDERATIONS IN RESECTION OF A LARGE EPIPHRENIC ESOPHAGEAL DIVERTICULUM].

Epiphrenic diverticulum of the esophagus is an uncommon finding. Small diverticula are usually asymptomatic in nature. Large diverticula may present with dysphagia, chest or upper abdominal discomfort, vomiting, irritating cough or halitosis. There are a few different surgical approaches to epiphrenic diverticulum resection. It can be performed with an abdominal or a thoracic approach and in an open or a laparoscopic manner. In this case report we present a 70 years old male patient with a giant epiphrenic diverticulum and dysphagia. The patient was operated upon via a laparoscopic abdominal approach with intra-operative endoscopic assistance and underwent a diverticulum resection. We present a review of the different kinds of esophageal diverticula, the mechanism of their formation, and the surgical considerations associated with choosing the appropriate surgical approach.

Effect of endoscopic stenting of malignant bile duct obstruction on quality of life.

BACKGROUND AND GOALS: Endoscopic stent insertion is considered the method of choice for palliation of malignant bile duct obstruction (MBDO). However, it can cause complications and requires periodic stent exchanges. Although endoscopic stenting is clearly indicated for relief of cholangitis or refractory pruritus, its role in patients with jaundice alone is less clear. Endoscopic stenting for this relative indication might be justified, if there is a significant improvement in quality of life (QOL) of such patients. The aim of our study was to determine whether endoscopic stenting for MBDO results in improved QOL. PATIENTS AND METHODS: Patients undergoing endoscopic retrograde cholangiopancreatography for MBDO and participating in a randomized trial comparing patency duration of 10 and 11.5-Fr biliary plastic stents, completed the Functional Assessment of Cancer Therapy-General questionnaire at baseline, at 1 month after stent insertion, and at 180 days after stent insertion. RESULTS: A total of 164 patients answered the QOL questionnaire at baseline, 95 patients answered the questionnaire at 30 days, and 54 patients answered the questionnaire at 180 days after stent insertion. Endoscopic biliary stenting resulted in a statistically significant improvement in overall score of QOL, and different aspects of QOL such as physical, emotional, and functional well-being. There was a statistically significant improvement in most of the symptoms specific for MBDO at 30 and 180 days after stenting. CONCLUSIONS: Endoscopic stenting significantly improves QOL in patients with MBDO, and, therefore, is an appropriate part of palliative treatment in this patient population.

Therapeutic EUS-assisted endoscopic retrograde pancreatography after failed pancreatic duct cannulation at ERCP.

BACKGROUND: Cannulation of the pancreatic duct (PD) during endoscopic retrograde pancreatography (ERP) can fail even in experienced hands. A technique for therapeutic EUS-assisted rendezvous ERP has been described in a few case reports. OBJECTIVE: To investigate the efficacy and safety of therapeutic EUS-assisted ERP. DESIGN: Retrospective study. SETTING: Tertiary-care medical center. PATIENTS: This study involved 21 patients after failed ERP. INTERVENTION: EUS-guided transgastric pancreatography by using a mixture of contrast media and methylene blue was attempted. If that was successful, ERP was attempted by using methylene blue flow as an indicator of the PD orifice or by a rendezvous technique using a wire passed into the PD and the small bowel through the EUS needle. MAIN OUTCOME MEASUREMENTS: Technical success rate and complications. RESULTS: The PD was of a normal diameter in 7 patients and was dilated in 14 patients. EUS-guided pancreatography was successfully done in all patients with a dilated PD but only in 4 of 7 patients (57%) with normal-diameter PDs. In 6 patients, ERP was successfully performed by using methylene blue flow as an indicator of the PD orifice. The rendezvous technique was successful in 4 of 12 cases (33%), and reasons for failure were either a tight stricture (n = 5) or a suboptimal angle of EUS needle insertion (n = 3). Overall, EUS-assisted ERP was successful in 10 of 21 patients (48%). Complications included peripancreatic abscess in 1 patient and mild pancreatitis in 1 patient. LIMITATIONS: Retrospective study, small sample size. CONCLUSION: EUS-assisted ERP is a complex procedure that can provide access to the PD in selected cases after failed standard ERP.

Minimizing complications in pancreaticobiliary endoscopy.

Endoscopic retrograde cholangiopancreatography (ERCP) and endoscopic ultrasound are invaluable tools in the diagnostic and therapeutic evaluation and management of a variety of pancreatobiliary disorders. Along with a significant refinement in the equipment and techniques used has come a recent trend toward aggressive therapeutic interventions. Because of the technical nature of these procedures and the characteristics of the patients, post-procedural complications may occur, ranging from minor (requiring brief hospitalization) to severe (causing permanent disability or death). This review summarizes these complications and outlines strategies to minimize them.

Low prevalence of dysplastic polyps in patients with ulcerative colitis.

BACKGROUND AND AIMS: Patients with ulcerative colitis (UC) are prone to colorectal cancer and dysplastic polyps and also have sporadic adenomas. There is scant information, however, relating the prevalence of sporadic adenomas in UC patients compared with normal subjects. The aim of this study was to assess the prevalence of all dysplastic lesions in UC and compare the prevalence of adenomas to that in the general population. METHODS: A single-center retrospective study, in which all patients with diagnosed UC were followed during a ten-year period. The incidence of polyps and colorectal cancers were recorded and compared to that of an age-matched group in the general population who had screening colonoscopy. RESULTS: A total of 229 UC patients were included compared with 450 age-matched subjects who underwent a single colonoscopy. The average number of colonoscopies per UC patient was 3. The rate of sporadic adenomas among UC patients (9.6%), as well as the rate of all dysplastic polyps (11.2%) in these patients, were significantly lower than the rate of adenomas among the control population (24%; OR 0.33-0.44; P<0.0001). Despite this, the rates of colon cancer were comparable between the groups (2.1% vs. 1.5%, P=0.55). CONCLUSIONS: In spite of the observed lower rate of dysplastic polyps in UC patients, this should not preclude tight surveillance in this high-risk population.

Crohn's disease diagnosed by wireless capsule endoscopy in adolescents with abdominal pain, protein-losing enteropathy, anemia and negative endoscopic and radiologic findings.

BACKGROUND: Approximately one-fourth of new Crohn's disease diagnoses are made in individuals under the age of 20 years, in whom proximal Crohn's disease tends to be more common. OBJECTIVES: To describe the role of wireless capsule endoscopy in diagnosing isolated small intestinal Crohn's disease in two adolescents. METHODS: Wireless capsule endoscopy was performed in two adolescents with severe protein-losing enteropathy and negative standard diagnostic workup. RESULTS: Wireless capsule endoscopy successfully diagnosed Crohn's disease with uncharacteristic presentations and negative radiographic and endoscopic findings in both patients. CONCLUSIONS: The non-invasiveness and ease in performance of capsule endoscopy on an ambulatory basis make this diagnostic modality especially advantageous for children.

Effect of erythromycin on image quality and transit time of capsule endoscopy: a two-center study.

AIM: To compare the effect of oral erythromycin vs no preparation with prokinetics on the transit time and the image quality of capsule endoscopy (CE) in evaluating small bowel (SB) pathology. METHODS: We conducted a retrospective, blinded (to the type of preparation) review of 100 CE studies, 50 with no preparation with prokinetics from one medical center (Group A) and 50 from another center with administration of a single dose of 200 mg oral erythromycin 1 h prior to CE (Group B). Gastric, SB and total transit times were calculated, the presence of bile in the duodenum was scored, as was cleanliness within the proximal, middle and distal intestine. RESULTS: The erythromycin group had a slightly shorter gastric transit time (21 min vs 28 min, with no statistical significance). SB transit time was similar for both groups (all P > 0.05). Total transit time was almost identical in both groups. The rate of incomplete examination was 16% for Group A and 10% for Group B (P = 0.37). Bile and cleanliness scores in different parts of the intestine were similar for the two groups (P > 0.05). CONCLUSION: Preparation for capsule endoscopy with erythromycin does not affect SB or total transit time. It tends to reduce gastric transit time, but it does not increase the cecum-reaching rate. Erythromycin does not adversely affect image quality. We consider the routine use of oral erythromycin preparation as being unjustified, although it might be considered in patients with known prolonged gastric emptying time.

Initial experience of videocapsule endoscopy for diagnosing small-bowel tumors in patients with GI polyposis syndromes.

BACKGROUND: Small-bowel tumors frequently occur in familial adenomatous polyposis and other GI polyposis syndromes. These tumors are difficult to detect with conventional techniques. Our aim was to assess the utility of videocapsule endoscopy in the detection of small-bowel tumors in this setting. METHODS: We examined 19 familial adenomatous polyposis patients and 3 patients with either Peutz-Jeghers syndrome, hyperplastic polyposis, or Cowden disease. OBSERVATIONS: Prevalence of small-bowel polyps on videocapsule endoscopy was 59% in all patients, 52.6% in familial adenomatous polyposis patients, and 75% in a subgroup of familial adenomatous polyposis patients with exon 15 mutations. Videocapsule endoscopy was safe and well tolerated in all patients. CONCLUSIONS: Videocapsule endoscopy has a high yield in detecting small-bowel tumors in patients with GI polyposis syndromes. It may be especially indicated in familial adenomatous polyposis patients with the aggressive phenotype of the disease, e.g., mutations in exon 15.

Second capsule endoscopy for patients with severe iron deficiency anemia.

BACKGROUND: Patients with iron deficiency anemia are subjected to multiple endoscopic and radiologic examinations of the GI tract. If negative, some of the examinations are repeated, occasionally with positive findings. The diagnostic yield of a second capsule endoscopy in such patients is unknown. The aim of the current study was to assess the diagnostic yield of a second capsule endoscopy in patients with significant iron deficiency anemia and a previous negative evaluation. METHODS: Twenty patients with iron deficiency anemia (Hb < 10 g/dL) were enrolled. All had at least one normal evaluation of the GI tract, including capsule endoscopy. A second capsule endoscopy examination was offered to all patients. RESULTS: The time between the first and the second capsule endoscopy ranged from 2 months to 1 year. Depending on the nature of an abnormality and its relevance to blood loss, the findings were classified as positive, suspicious, clinically irrelevant, or negative. In 7 patients, the second capsule endoscopy disclosed findings that were classified as either positive or suspicious findings, including arteriovenous malformations (2), flat polypoid lesion (1), edematous inflamed mucosa (1), erosions (1), and hemorrhagic gastritis (1). Lesions were located in the small intestine (5), the stomach (1), and the cecum (1). Based on the findings of the second capsule endoscopy, therapy was changed in two patients (10%). CONCLUSIONS: A second capsule endoscopy should be considered for patients with severe iron deficiency anemia and negative initial evaluation.