المؤلفون: Garcia-Etxebarria, Koldo, Zheng, Tenghao, Bonfiglio, Ferdinando, Bujanda, Luis, Dlugosz, Aldona, Lindberg, Greger, Schmidt, Peter T, Karling, Pontus, Ohlsson, Bodil, Simren, Magnus, Walter, Susanna, Nardone, Gerardo, Cuomo, Rosario, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Portincasa, Piero, Bellini, Massimo, Barbara, Giovanni, Jonkers, Daisy, Eswaran, Shanti, Chey, William D, Kashyap, Purna, Chang, Lin, Mayer, Emeran A, Wouters, Mira M, Boeckxstaens, Guy, Camilleri, Michael, Franke, Andre, D’Amato, Mauro

المصدر: Clinical Gastroenterology and Hepatology. 16(10)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Chronic Pain, Digestive Diseases, Genetics, Pain Research, Aetiology, 2.1 Biological and endogenous factors, Oral and gastrointestinal, Gene Frequency, Genotype, Humans, Irritable Bowel Syndrome, Prevalence, Sucrase-Isomaltase Complex, Gastroenterology & Hepatology, Clinical sciences

الوصف: Patients with irritable bowel syndrome (IBS) often associate their symptoms to certain foods. In congenital sucrase-isomaltase deficiency (CSID), recessive mutations in the SI gene (coding for the disaccharidase digesting sucrose and 60% of dietary starch)1 cause clinical features of IBS through colonic accumulation of undigested carbohydrates, triggering bowel symptoms.2 Hence, in a previous study,3 we hypothesized that CSID variants reducing SI enzymatic activity may contribute to development of IBS symptoms. We detected association with increased risk of IBS for 4 rare loss-of-function variants typically found in (homozygous) CSID patients, because carriers (heterozygous) of these rare variants were more common in patients than in controls.1,4 Through a 2-step computational and experimental strategy, the present study aimed to determine whether other (dys-)functional SI variants are associated with risk of IBS in addition to known CSID mutations. We first aimed to identify all SI rare pathogenic variants (SI-RPVs) on the basis of integrated Mendelian Clinically Applicable Pathogenicity (M-CAP) and Combined Annotation Dependent Depletion (CADD) predictive (clinically relevant) scores; next, we inspected genotype data currently available for 2207 IBS patients from a large ongoing project to compare SI-RPV case frequencies with ethnically matched population frequencies from the Exome Aggregation Consortium (ExAC).

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/01k5g28hTest

المؤلفون: Garcia-Etxebarria, Koldo, Zheng, Tenghao, Bonfiglio, Ferdinando, Bujanda, Luis, Dlugosz, Aldona, Lindberg, Greger, Schmidt, Peter T., Karling, Pontus, Ohlsson, Bodil, Simren, Magnus, Walter, Susanna, Nardone, Gerardo, Cuomo, Rosario, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Portincasa, Piero, Bellini, Massimo, Barbara, Giovanni, Jonkers, Daisy, Eswaran, Shanti, Chey, William D., Kashyap, Purna, Chang, Lin, Mayer, Emeran A., Wouters, Mira M., Boeckxstaens, Guy, Camilleri, Michael, Franke, Andre, D'Amato, Mauro

المصدر: Clinical Gastroenterology and Hepatology. 16(10):1673-1676

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Gastroenterologi, Medical and Health Sciences, Clinical Medicine, Gastroenterology and Hepatology

الوصول الحر: https://lup.lub.lu.se/record/037dbd9a-69cb-4daa-bfdb-b07be23ee185Test
http://dx.doi.org/10.1016/j.cgh.2018.01.047Test

المؤلفون: Marco Romano, Fortunato Montella, Gerardo Nardone, Maria Rosaria Iovene, Camillo Del Vecchio Blanco, Maria Antonietta Tufano, Riccardo Marmo, Teresa De Simone, C. Mucherino, Antonio Cuomo

المصدر: Clinical Gastroenterology and Hepatology. 1:273-278

مصطلحات موضوعية: Hepatology, business.industry, Gastroenterology, Medicine, Antimicrobial susceptibility, business, Cost savings, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d8f9b0a5ecc617909fb0a19cd0201536Test
https://doi.org/10.1053/s1542-3565Test(03)00131-9

المؤلفون: Romano, M., Marmo, R., Cuomo, A., De Simone, T., Mucherino, C., Iovene, M.R., Montella, F., Antonietta Tufano, M., Del Vecchio Blanco, C., Nardone, G.

المصدر: Clinical Gastroenterology and Hepatology; July 2003, Vol. 1 Issue: 4 p273-278, 6p

مستخلص: Background & Aims:: The major obstacle to 100% effective eradication of Helicobacter pylori infection is represented by antimicrobial-resistant H. pylori strains. This randomized study was designed to evaluate whether regimens based on pretreatment susceptibility testing were more effective and cost saving compared with standard nonsusceptibility testing-based therapy in the eradication of H. pylori infection. Methods:: We studied 150 consecutive H. pylori-infected dyspeptic subjects. Patients were randomly assigned to omeprazole 20 mg twice daily, clarithromycin 500 mg twice daily, and metronidazole 500 mg twice daily for 7 days or to omeprazole 20 mg twice daily and 2 antimicrobials chosen based on susceptibility testing. H. pylori status was reevaluated 12 weeks after the end of treatment by the ^1^3C-urea breath test. Results:: Susceptibility testing-based regimens led to the following results. (1) Eradication rates were 97.3% (95% confidence interval [CI], 91.2%-99.5%) (71 of 73) and 94.6% (95% CI, 87.6%-98.3%) (71 of 75) in the per-protocol and intention-to-treat analysis, respectively. These were significantly higher (P < 0.005) than eradication rates obtained without susceptibility testing, that is, 79.4% (95% CI, 69.1%-87.6%) (58 of 73) and 77.3% (95% CI, 66.9%-85.7%) (58 of 75) in the per-protocol and intention-to-treat analyses, respectively. (2) There were savings of approximately $5 U.S. per patient compared with standard triple therapy. Conclusions:: Pretreatment antimicrobial susceptibility testing is more effective and cost saving and, in health systems that confirm cost advantage, microbial susceptibility testing should be routinely used for eradication of H. pylori infection.

المؤلفون: Romano, M., Marmo, R., Cuomo, A., Nardone, G.

المصدر: Clinical Gastroenterology and Hepatology; January 2004, Vol. 2 Issue: 1 p85-85, 1p