A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome-Case Report and Brief Review of the Literature.

Cowden syndrome (CS) is a rare disease that was first described in 1963 and later included in the large group of genodermatoses. It is the most common syndrome among the PTEN-associated hamartomatous tumor syndromes (PHTS). CS has an autosomal dominant inheritance pattern, with increased penetrance and variable expressivity, making early diagnosis difficult. Mutations in the PTEN gene (phosphatase and TENsin homolog) are involved in its pathogenesis, involving many organs and systems originating in the three embryonic layers (ectodermum, endodermum, and mesodermum). The consequence is the development of hamartomatous lesions in various organs (brain, intestines, thyroid, oropharyngeal cavity, colon, rectum, etc.). Multiple intestinal polyps are common in patients with CS, being identified in over 95% of patients undergoing colonoscopy. The authors describe the case of a patient who presented the first signs of the disease at 3 ½ years (tonsil polyp) but was diagnosed only at the age of 20 following a colonoscopy that revealed hundreds of intestinal polyps, suggesting further molecular testing. A heterozygous frameshift mutation was identified in the PTEN gene, classified as a potentially pathogenic variant (c.762del.p(Val255*)). The authors present this case to highlight the path taken by the patient from the first symptoms to the diagnosis and to emphasize the clinical aspects of this mutational variant that have still not been identified in other patients with this syndrome.

A comparison using standardized measures for patients with irritable bowel syndrome: Trust in the gastroenterologist and reliance on the internet.

BACKGROUND: Irritable bowel syndrome (IBS) patients' use of the Internet for health information interacts with the way they trust their gastroenterologist. No standardized measure has targeted IBS patients and gastroenterologists specifically, nor their use of the Internet. The aims of this paper were as follows: the development of a scale that measures an IBS patient's trust in their gastroenterologist, the development of a scale measuring an IBS patient's reliance on Internet health information, and testing the hypothesis that IBS patients, who use the Internet for IBS-related information, trust their gastroenterologist less than those who do not. METHOD: A total of 82 patients (mean age 49, SD = 14.62) diagnosed with IBS completed two questionnaires: one about trust in their gastroenterologist and the other about the reliance on Internet health information regarding IBS. The two questionnaires were built using current literature as well as our previous qualitative research. The statistical computations were performed using the SPSS 20 program. KEY RESULTS: Both questionnaires proved to be reliable in measuring gastroenterologist-IBS patient trust (alpha = 0.87) and Internet information reliance (alpha = 0.88), respectively. The IBS patients who did not look for information about IBS over the Internet had significantly higher trust in their gastroenterologist compared with those who did (U = 535.5; z = -2.26; P < 0.05). CONCLUSIONS: We developed two ready-to-use scales to measure both the gastroenterologist-IBS patient's trust and the IBS patient's reliance on the Internet. Further studies will be able to explore the interaction among all variables in IBS patients' trust.

Mucosal Protective Compounds in the Treatment of Gastroesophageal Reflux Disease. A Position Paper Based on Evidence of the Romanian Society of Neurogastroenterology.

BACKGROUND AND AIMS: Gastroesophageal reflux disease (GERD) therapy is challenging and suppression of acid secretion or prokinetics do not cure all cases. Some drugs with protective action on the esophageal mucosa have been used alternatively or in association with proton pump inhibitors (PPIs) and/or prokinetics. The Romanian Society of Neurogastroenterology undertook an Evidence-Based analysis, from which this position paper evolved. METHODS: We performed a systematic literature search in PubMed until October 2015, using the terms: sucralfate, guaiazulene, gaiazulene, dimethicone, alginate, antacids and gastroesophageal reflux. Forty-seven papers were included and analyzed. Several statements were elaborated regarding the use of these drugs in GERD. The evidence and recommendations were discussed between the authors. RESULTS: There is evidence in the medical literature suggesting the benefit of these drugs in GERD. In patients with persistent or mild reflux symptoms antacids rapidly relieve heartburn. Alginate-antacid combination is superior both over placebo and antacids to treat mild reflux symptoms, and can be used to treat persistent reflux symptoms despite acid suppressant therapy. Sucralfate is superior over placebo in alleviating GERD symptoms and can be used as maintenance therapy. Guaiazulene-dimethicone improves the quality of life in patients with GERD. CONCLUSIONS: Drugs used to protect the esophageal mucosa against acid are useful in alleviating chronic heartburn, especially in patients with mild reflux symptoms.