Search

Background & Aims: Wilson disease (WD) is a copper metabolism disorder caused by mutations in ATP7B gene, with significant clinical variability. Several studies have analyzed the prevalence and penetrance of mutations. We evaluated both characteristics for our more frequent mutations., Methods: Evaluation of 260 patients from the National Registry: clinical, analytical and genetic data. Estimation of homozygotes and total cases according to Hardy-Weinberg equilibrium and comparison with Registry records., Results: The estimated number of homozygotes were higher than registered: p.Met645Arg (1949/6), p.His1069Gln (20/8), p.Leu708Pro (63/24) and p.Gly869Arg (147/0). p.Met645Arg homozygotes presented less cirrhosis at diagnosis, extrahepatic disease and Kayser-Fleischer ring (KFR) and more presymptomatic cases and diagnosis after 40 years of age than p.Leu708Pro and p.His1069Gln homozygotes. p.Met645Arg homozygotes presented more late diagnosis than p.Met645Arg compound heterozygotes. Compound heterozygotes carrying p.Met645Arg or p.Gly869Arg showed less cirrhosis at diagnosis, KFR and neurological symptoms and more hepatic and presymptomatic cases, despite clearly low ceruloplasmin levels. The estimated prevalence was 1:3.785, predicting more than 10.500 patients., Conclusions: The widespread mutations p.Met645Arg and p.Gly869Arg show low penetrance. WD might be underdiagnosed in Spain due to less severe phenotype of the most frequent mutations, a crucial fact to avoid misdiagnosis and to offer early therapy., Competing Interests: Conflict of interest Victor Vargas: Speaker fees, Alexion Pharma, Consultant (advisory board), Ipsen. Anna Miralpeix: speaker fees from Orphalan. Zoe Mariño: speaker fees from Orphalan and Gilead; advisory fees from Orphalan, Alexion and Deep Genomics; grants from Gilead. The others authors reported no conflict of interest., (Copyright © 2024 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.)

Background and Aim: biliary self-expanding metal stents (SEMS) have the advantage of being inserted undeployed with very small sizes and provide, when fully opened, large diameters for biliary drainage. However, their use in benign conditions has been very limited, mainly because of difficulty in their extraction. We present our initial experience with a fully covered SEMS (Wallflex) for the management of benign problems of the bile duct., Patients and Methods: in a prospective study, stents of 8 mm in diameter and 4, 6 or 8 cm long were inserted by means of ERCP. These SEMS were chosen when according to medical judgement it was thought that diameters greater than 10 French (3.3 mm) were needed for proper biliary drainage. Stents were extracted also endoscopically, several months later when deemed clinically appropriate., Results: twenty biliary SEMS were inserted. Reasons for insertion were: large intrahepatic biliary fistula after hydatid cyst surgery (1), perforation of the papillary area following endoscopic sphincterotomy (2), coaxial insertion to achieve patency in obstructed uncovered stents inserted in benign conditions (3), benign strictures (7), multiple and large common bile duct stones that could not be extracted because of tapering and stricturing of the distal common bile duct (7). In all cases, successful biliary drainage was achieved and there were no complications from insertion. Stents were easily extracted after a mean time of 132 days (36-270) in place. Complete resolution of biliary problems was obtained in 14 patients (70%)., Conclusions: in our initial experience, the fully covered Wallflex biliary stent was removed without any complication after being in place in the common bile duct for a mean time of over four months. Therefore, it could be used in the management of benign biliary conditions.

Aim and Background: the insertion of self-expanding metal stents to palliate malignant gastric outlet obstruction is a minimally invasive procedure that is being increasingly used. We discuss experience with this technique in a level-II hospital in the Spanish National Health System., Patients and Methods: a retrospective five-year study (2003-2007) was conducted in 23 patients who underwent 27 procedures aimed at resolving malignant gastric outlet obstruction (mean, 0.45 procedures per month) using endoscopically inserted noncovered stents (Wallstent and Wallflex)., Results: insertion was technically feasible in all 27 (100%) attempts, with satisfactory clinical results in 25 cases (92.5%). Endoscopy alone was used 10 times (37%), and both endoscopy and fluoroscopy on 17 (63%) occasions. After stent insertion, one patient was intervened for treatment, and a patient with an unsuccessful prosthesis received a palliative surgical bypass. Four stents became obstructed by tumoral ingrowth, and patency was reestablished by inserting a new stent. Obstructive jaundice caused by stents covering the papilla of Vater occurred in three cases. There were no other complications or mortality due to the procedure. Mean survival was 104 days (range 28-400, SD +/- 94)., Conclusions: in our experience endoscopic insertion of self-expanding metal stents appears to be a safe and efficient palliative method for malignant gastric outlet obstruction, and can be performed successfully in a center with our characteristics.

Background and Objective: Endoscopic retrograde cholangiopancreatography (ERCP) is usually the procedure of choice for relieving bile duct obstruction. a large number of patients undergoing this intervention are geriatric population (aged 75 years of age and older). Our aim was to assess the efficacy of ERCP in this group of patients as compared to younger ones., Patients and Methods: A retrospective study. All patients in whom a therapeutic biliary endoscopy had been performed over a four-year period of time (2002-2005) were included., Results: 178 geriatric patients and 159 younger ones underwent ERCP. No differences were found in successful biliary drainage (97.7 vs. 98.7%), complication number (11.8 vs. 14.4%), or mortality rate (1.1 vs. 0.6%). On the other hand, more common bile duct stones were found in geriatric patients (57.3 vs. 39.6%, p = 0.004), and also more self-expanding metal stents were employed to drain malignant obstructive jaundice (47 vs. 8%, p = 0.0035). In the youngest group, more ERCPs were repeated in the same patients (4 vs. 10%, p = 0.001)., Conclusions: The geriatric population showed similar success and morbidity and mortality rates when compared to younger patients in draining their bile duct by means of ERCP. Common bile duct stones were more frequently found in geriatric patients. No patients needing an ERCP should be excluded only because of their age.

Background and Objective: Self-expanding metal stents are being increasingly used to resolve malignant colonic obstruction. Subsequently, patients can either undergo elective surgery, or the stent can serve as a definitive palliative treatment in patients unfit for surgery. We present our experience with this technique in our hospital, a level II center within the Spanish National Health Service, which can be considered a community hospital., Patients and Methods: A retrospective study was performed of a 42-month period (May 2002 to October 2005), during which malignant colonic obstruction was treated by means of endoscopically inserted stents on 43 occasions in 40 patients., Results: Stent insertion was successfully performed in 41 attempts (95%) and good clinical results were obtained on 37 occasions (86%). Endoscopic means alone were used on 23 occasions (53.5%) and in the remaining 20 (46.5%), both endoscopy and fluoroscopy were employed. Of 38 patients with successfully inserted stents, clinical success was achieved, as a whole, in 34. Twenty-four of these patients (63%) subsequently underwent elective surgery while the stent served as a definitive palliative treatment in the remaining 14 (37%). One of these patients had to undergo further surgery due to a fistula between the colon and the bladder. There were eight other complications: three stent migrations and one stent obstruction occurred, two patients had tenesmus, one patient developed bacteremia after stent insertion, and a silent bowel perforation by the stent was found in an elective surgical procedure. There was no mortality., Conclusions: In our experience, endoscopically inserted stents seem to be a safe and effective method for the initial treatment of malignant colonic obstruction.

Endoscopic retrograde cholangiopancreatography (ERCP) is an established method to treat bile duct obstruction. Besides, ERCP is one of the most stricking parts of interventional endoscopy and takes advantage of its minimal invasive condition to be applied to a wide variety of patients. We present five patients over 90 years of age who underwent successfully and without complications six therapeutic ERCPs. Endoscopic biliary sphincterotomy, common bile duct stone extraction and plastic stent insertion all were performed uneventfully and solving the biliary obstruction. Therapeutic ERCP is a safe and effective modality to treat bile duct obstruction in patients over 90 years of age.

Background and Aim: ERCP with biliary sphincterotomy is the usual method to extract common bile duct stones. However, after sphincterotomy and by means of balloons and Dormia baskets not all stones may be extracted during the first endoscopy session. We present our experience regarding success rate after first ERCP., Patients and Methods: 100 consecutive patients were included. All were diagnosed with choledocholitiasis by using ERCP. After biliary sphincterotomy, attempts to extract stones by means of balloons and Dormia baskets only were made. Billroth II gastrectomies and bile duct strictures of any origin were excluded., Results: During the first attempt at ERCP, complete stone clearance was achieved in 73 patients. Of the remaining 27 patients: 3 underwent surgery for choledocholithiasis, 20 had a plastic stent inserted, and 4 needed another ERCP for stones having been left in place. Mean extracted stone size was 9.4 mm (+/- 3.8), and mean non-extracted stone size was 17 mm (+/- 7.3): p < 0.001. Male/female ratio was 35/38 in the extracted group and 6/21 in the non-extracted group (p < 0.05). There were 11 complications (one patient underwent surgery because of duodenal perforation not related to sphincterotomy). There was no mortality., Conclusions: In our experience, after endoscopic biliary sphincterotomy and by means of balloons and Dormia baskets a complete stone clearance has been achieved in 73% of patients at first endoscopy attempt. Failed extraction seems to be related to stone size and was more frequently found in women.

Background: Diabetes mellitus secondary to alcoholic chronic pancreatitis (DM-ACP) represents 0.5-2% of all cases of diabetes mellitus (DM) and shows predominantly symptoms related to malnutrition instead of cardinal clinical signs of diabetes. The aim of this study was to try to further characterize the features of the malnutrition in patients with pancreatic insufficiency. PATIENTS MATERIAL AND METHODS: We selected 40 patients (39 males and 1 female) meeting clinical, functional and morphological diagnostic criteria of DM-ACP which received a nutritional assessment that included estimation on fat and proteic body compartments being classified as caloric, proteic or mixed malnutrition., Results: 29 patients (72.5%) showed some kind of malnutrition. The most frequent type was mixed (proteic-caloric) malnutrition found in 19 of them (47.5%). Caloric malnutrition was present in 6 (15%) and mainly proteic in 4 (10%). Only 11 patients with DM-ACP in our series showed a normal nourishment state., Conclusions: Large prevalence of mixed malnutrition in DM-ACP patients may be related to malabsorption of macronutrients (especially proteins and fat) due to exocrine insufficiency and misuse of nutrients as a result of the characteristic hypoinsulinemia showed by these patients.