SciCombinator

Discover the most talked about and latest scientific content & concepts.

Concept: Gastroenterology

168

Alagille syndrome (AS) is a multisystemic disease autosomal dominant, with variable expression. The major clinical manifestations are: chronic cholestasis, congenital heart disease, posterior embryotoxon in the eye, characteristic facial phenotype, and butterfy vertebrae. AS is caused by mutations in JAGGED1 (more than 90%) and in NOTCH2. Differential diagnosis include: infections, genetic-metabolic diseases, biliary atresia, idiopathic cholestasis. Cholestasis, pruritus and xanthomas have been successfully treated with choleretic agents (ursodeoxycholic acid) and other medications (cholestyramine, rifampin, naltrexone). In certain cases, partial external biliary diversion has also proved successful. Liver transplantation is indicated in children with cirrhosis and liver failure.

Concepts: Medicine, Cancer, Medical terms, Liver, Gastroenterology, Hepatology, Progressive familial intrahepatic cholestasis, Alagille syndrome

167

Hereditary angioedema (HAE) is a rare autosomal dominant disease that usually occurs in adolescence and early adulthood. It is characterized by recurrent non-pitting edema involving the skin and intestinal tract, especially the extremities and face. It is not associated with urticaria and pruritus. The cause is known to be the deficiency of C1 inhibitor. We herein report a 7-year-old girl with HAE who had recurrent episodes of swelling of the extremities and face without urticaria and pruritus. Her great grandmother had suffered from the same symptoms. The level of serum C4 was 8.01 mg/dL (normal: 10-40 mg/dL). The level of C1 inhibitor was 5.0 mg/dL (normal: 18-40 mg/dL). To our knowledge, this is the first pediatric case with typical clinical symptoms of HAE and C1 esterase inhibitor deficiency in Korea.

Concepts: Allergy, Gastroenterology, Angioedema, Hereditary angioedema, Urticaria, C1-inhibitor, Cetirizine

164

Vitamin D deficiency has been associated or implicated with the pathophysiology of the gastrointestinal conditions inflammatory bowel disease and colorectal cancer, as well as with depression. No trials or epidemiology studies to date have investigated a link with irritable bowel syndrome (IBS). A single case report has suggested a benefit in IBS of vitamin D supplementation. We hypothesised that IBS participants with vitamin D insufficiency would benefit from repletion in terms of their IBS symptoms. We undertook a pilot trial to provide data to support a power calculation and to justify a full trial.

Concepts: Immune system, Inflammation, Vitamin D, Cancer, Ulcerative colitis, Constipation, Gastroenterology, Irritable bowel syndrome

163

Bilioenteric or pancreatoenteric anastomotic strictures often occur after surgery for a pancreaticobiliary disorder. Therapeutic endoscopic retrograde cholangiopancreatography using balloon enteroscopy has been shown to be feasible and effective in patients with such strictures. However, when a benign anastomotic stricture is severe, a dilation catheter cannot pass through the stricture despite successful insertion of the guidewire. We report on the usefulness of the Soehendra Stent Retriever over a guidewire for dilating a severe bilioenteric or pancreatoenteric anastomotic stricture under short double-balloon enteroscopy, in two patients with surgically altered anatomies.

Concepts: Medicine, Surgery, Gastroenterology, Endoscopic retrograde cholangiopancreatography, Endoscopy, Enteroscopy, Double-balloon enteroscopy

161

To investigate the clinical impact of capsule endoscopy (CE) after an obscure gastrointestinal bleeding (OGIB) episode, focusing on diagnostic work-up, follow-up and predictive factors of rebleeding.

Concepts: Colonoscopy, Gastroenterology, Endoscopy, Gastrointestinal bleeding

155

Crohn’s disease and ulcerative colitis, collectively known as inflammatory bowel disease (IBD), are characterized by chronic inflammation of the gastrointestinal tract (1). IBD has been associated with poor quality of life and extensive morbidity and often results in complications requiring hospitalizations and surgical procedures (2-4). Most previous studies of IBD have used administrative claims data or data collected from limited geographic areas to demonstrate increases in estimated prevalence of IBD within the United States (5,6). Few national prevalence estimates of IBD among adults based on large, nationally representative data sources exist, and those that do tend to be based on older data. For example, the most recent national study used 1999 National Health Interview Survey (NHIS) data and estimated that 1.8 million (0.9%) U.S. adults had IBD (7). To examine the prevalence of IBD among the civilian, noninstitutionalized U.S. adult population, data from the 2015 NHIS were analyzed. Overall, an estimated 3.1 million, or 1.3%, of U.S. adults have received a diagnosis of IBD. Within population subgroups, a higher prevalence of IBD was identified among adults aged ≥45 years, Hispanics, non-Hispanic whites, and adults with less than a high school level of education, not currently employed, born in the United States, living in poverty, or living in suburban areas. The use of a nationally representative data source such as the NHIS to estimate the prevalence of IBD overall and by population subgroups is important to understand the burden of IBD on the U.S. health care system.

Concepts: Inflammation, United States, Ulcerative colitis, Crohn's disease, Colonoscopy, Gastroenterology, Inflammatory bowel disease, Suburb

153

The diagnosis of functional heartburn is important for management, however it stands on fragile pH monitoring variables, ie, acid exposure time varies from day to day and symptoms are often few or absent. Aim of this study was to investigate consistency of the diagnosis of functional heartburn in subsequent days using prolonged wireless pH monitoring and its impact on patients' outcome.

Concepts: Acid, Asthma, Proton, Gastroenterology, Gastroesophageal reflux disease, Esophageal pH Monitoring, Heartburn, Hydrogen ion

152

Intestinal loop stoma is a common surgical procedure performed for various benign and malignant abdominal problems, but it rarely undergoes spontaneous closure, without surgical intervention. Two male patients presented to our emergency surgical department with acute abdominal pain. One of them was diagnosed as having rectosigmoid perforation and underwent diversion sigmoid loop colostomy after primary closure of the perforation. The other was a known case of carcinoma of the rectum who had already undergone low anterior resection with covering loop ileostomy; the patient underwent second loop ileostomy, this time for complicated intestinal obstruction. To our surprise, both the loop colostomy and ileostomy closed spontaneously at 8 weeks and 6 weeks, respectively, without any consequences. Spontaneous stoma closure is a rare and interesting event. The exact etiology for spontaneous closure remains unknown, but it may be hypothesized to result from slow retraction of the stoma, added to the concept of a tendency towards spontaneous closure of enterocutaneous fistula.

Concepts: Surgery, Colorectal cancer, Ulcerative colitis, Abdominal pain, Gastroenterology, Stoma, Ileostomy, Colostomy

150

Even in expert hands, there can be serious complications when performing an endoscopic retrograde cholangiopancreatography. The most frequent complications are pancreatitis, cholangitis, bleeding, perforation, and acute cholecystitis. The hepatic subcapsular haematoma is a rare complication, with few cases described worldwide.

Concepts: Gastroenterology, Acute pancreatitis, Endoscopic retrograde cholangiopancreatography, Endoscopy, Ascending cholangitis, Jaundice

147

Current knowledge suggests that small intestinal overgrowth participates in the pathogenesis of irritable bowel syndrome. It is questionable if this association is modulated by intake of proton pump inhibitors (PPIs).

Concepts: Bacteria, Constipation, Large intestine, Intestine, Gastroenterology, Small intestine, Irritable bowel syndrome, Flatulence