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| 1 | New genes emerging for colorectal cancer predisposition显示文摘Colorectal cancer(CRC)is one of the most frequent neoplasms and an important cause of mortality in the developed world.This cancer is caused by both genetic and environmental factors although 35%of the variation in CRC susceptibility involves inherited genetic differences.Mendelian syndromes account for about5%of the total burden of CRC,with Lynch syndrome and familial adenomatous polyposis the most common forms.Excluding hereditary forms,there is an important fraction of CRC cases that present familial aggregation for the disease with an unknown germline genetic cause.CRC can be also considered as a complex disease taking into account the common diseasecommom variant hypothesis with a polygenic model of inheritance where the genetic components of common complex diseases correspond mostly to variants of low/moderate effect.So far,30 common,low-penetrance susceptibility variants have been identified for CRC.Recently,new sequencing technologies including exomeand whole-genome sequencing have permitted to add a new approach to facilitate the identification of new genes responsible for human disease predisposition.By using whole-genome sequencing,germline mutations in the POLE and POLD1 genes have been found to be responsible for a new form of CRC genetic predisposition called polymerase proofreading-associated polyposis. | Clara Esteban-Jurado Pilar Garre Maria Vila Juan José Lozano Anna Pristoupilova Sergi Beltrán Anna Abulí Jenifer Muoz Francesc Balaguer Teresa Ocaa Antoni Castells Josep M Piqué Angel Carracedo Clara Ruiz-Ponte Xavier Bessa Montserrat Andreu Luis Bujanda Trinidad Caldés Sergi Castellví-Bel | 2014 | World Journal of Gastroenterology2014，20，8： | 3 |
| 2 | Combination of corticosteroids and 5-aminosalicylates or corticosteroids alone for patients with moderate-severe active ulcerative colitis:A global survey of physicians'practice显示文摘AIM To examine treatment decisions of gastroenterologists regarding the choice of prescribing 5-aminosalycilates(5ASA) with corticosteroids(CS) versus corticosteroids alone for patients with active ulcerative colitis(UC). METHODS A cross-sectional questionnaire exploring physicians' attitude toward 5ASA + CS combination therapy vs CS alone was developed and validated. The questionnaire was distributed to gastroenterology experts in twelve countries in five continents. Respondents' agreement with stated treatment choices were assessed by standardized Likert scale. Background professional characteristics of respondents were analyzed for correlation with responses. RESULTS Six hundred and sixty-four questionnaires were distributed and 349 received(52.6% response rate). Of 340 eligible respondents, 221(65%) would continue 5ASA in a patient hospitalized for intravenous CS treatment due to a moderate-severe UC flare, while 108(32%) would stop the 5ASA(P < 0.001), and 11(3%) are undecided. Similarly, 62% would continue 5ASA in an out-patient starting oral CS. However, only 140/340(41%) would proactively start 5ASA in a hospitalized patient not receiving 5ASA before admission. Most(94%) physicians consider the safety profile of 5ASA as very good. Only 52% consider them inexpensive, 35% perceive them to be expensive and 12% are undecided. On multi-variable analysis, less years of practice and perception of a plausible additive mechanistic effect of 5ASA + CS were positively associated with the decision to continue 5ASA with CS. CONCLUSION Despite the absence of data supporting its benefit, most gastroenterologists endorse combination of 5ASA + CS for patients with active moderate-to-severe UC. Randomized controlled trials are needed to assess if 5ASA confer any benefit for these patients. | Shomron Ben-Horin Jane M Andrews Konstantinos H Katsanos Florian Rieder Flavio Steinwurz Konstantinos Karmiris Jae Hee Cheon Gordon William Moran Monica Cesarini Christian D Stone Doron Schwartz Marijana Protic Xavier Roblin Giulia Roda Min-Hu Chen Ofir Har-Noy Charles N Bernstein | 2017 | World Journal of Gastroenterology2017，23，16： | 3 |
| 3 | Liver fat deposition and mitochondrial dysfunction in morbid obesity:An approach combining metabolomics with liver imaging and histology显示文摘AIM: To explore the usefulness of magnetic resonance imaging(MRI) and spectroscopy(MRS) for assessment of non-alcoholic fat liver disease(NAFLD) as compared with liver histological and metabolomics findings. METHODS: Patients undergoing bariatric surgery following procedures involved in laparoscopic sleeve gastrectomy were recruited as a model of obesityinduced NAFLD in an observational, prospective, singlesite, cross-sectional study with a pre-set duration of 1 year. Relevant data were obtained prospectively and surrogates for inflammation, oxidative stress and lipid and glucose metabolism were obtained through standard laboratory measurements. To provide reliable data from MRI and MRS, novel procedures were designed to limit sampling variability and other sources of error using a 1.5T Signa HDx scanner and protocols acquired from the 3D or 2D Fat SAT FIESTA prescription manager. We used our previously described 1H NMRbased metabolomics assays. Data were obtained immediately before surgery and after a 12-mo period including histology of the liver and measurement of metabolites. Values from 1H NMR spectra obtained after surgery were omitted due to technical limitations.RESULTS: MRI data showed excellent correlation with the concentration of liver triglycerides, other hepatic lipid components and the histological assessment, w h i c h e xc l u d e d t h e p r e s e n c e o f n o n-a l c o h o l i c steatohepatitis(NASH). MRI was sufficient to follow up NAFLD in obese patients undergoing bariatric surgery and data suggest usefulness in other clinical situations. The information provided by MRS replicated that obtained by MRI using the-CH3 peak(0.9 ppm), the-CH2- peak(1.3 ppm, mostly triglyceride) and the-CH=CH- peak(2.2 ppm). No patient depicted NASH. After surgery all patients significantly decreased their body weight and steatosis was virtually absent even in patients with previous severe disease. Improvement was also observed in the serum concentrations of selected variables. The most relevant findings using metabolomics indicate increased levels of triglyceride and monounsaturated fatty acids in severe steatosis but those results were accompanied by a significant depletion of diglycerides, polyunsaturated fatty acids, glucose-6-phosphate and the ATP/AMP ratio. Combined data indicated the coordinated action on mitochondrial fat oxidation and glucose transport activity and may support the consideration of NAFLD as a likely mitochondrial disease. This concept may helpto explain the dissociation between excess lipid storage in adipose tissue and NAFLD and may direct the search for plasma biomarkers and novel therapeutic strategies. A limitation of our study is that data were obtained in a relatively low number of patients.CONCLUSION: MRI is sufficient to stage NAFLD in obese patients and to assess the improvement after bariatric surgery. Other data were superfluous for this purpose. | Nahum Calvo Raúl Beltrán-Debón Esther Rodríguez-Gallego Anna Hernández-Aguilera Maria Guirro Roger Mariné-Casadó Lidón Millá Josep M Alegret Fàtima Sabench Daniel del Castillo María Vinaixa Miguelàngel Rodríguez Xavier Correig Roberto García-álvarez Javier A Menendez Jordi Camps Jorge Joven | 2015 | World Journal of Gastroenterology2015，21，24： | 2 |
| 4 | Susceptibility Genetic Variants Associated With Colorectal Cancer Risk Correlate With Cancer Phenotype显示文摘 | Anna Abulí Xavier Bessa Juan Ramón González Clara Ruiz–Ponte Alejandro Cáceres Jenifer Mu?oz Victoria Gonzalo Francesc Balaguer Ceres Fernández–Rozadilla Dolors González Luisa de Castro Juan Clofent Luís Bujanda Joaquín Cubiella Josep M a Re?é Juan Diego | 2010 | Gastroenterology2010，，3： | 2 |
| 5 | Pathogenesis of bovine brucellosis显示文摘 | CARVALHO NETA A V MOL J P XAVIER M N | 2010 | Vet J2010，184，2： | 1 |
| 6 | Autohydrolysis of Almond Shells for the Production of Xylo-oligosaccharides :Product Characteristics and Reaction Kinetics 显示文摘 | Debora N Xavier F Daniel M | 2005 | Ind Eng Chem Res2005，44，20： | 1 |
| 7 | Interactions of the Human Pathogenic Brucella Species with Their Hosts显示文摘 | ATLURI V L XAVIER M N DE JONG M | 2011 | Annual Review of Microbiology2011，65，4： | 1 |
| 8 | Efficacy of a prophylactic adjuvanted bivalent L1 virus-like-particle vaccine against infection with human papillomavirus types 16 and 18 in young women: an interim analysis of a phase III double-blind, randomised controlled trial显示文摘 | Jorma Paavonen David Jenkins F Xavier Bosch Paulo Naud Jorge Salmerón Cosette M Wheeler Song-Nan Chow Dan L Apter Henry C Kitchener Xavier Castellsague Newton S de Carvalho S Rachel Skinner Diane M Harper James A Hedrick Unnop Jaisamrarn Genara AM Limson | 2007 | The Lancet2007，，9580： | 1 |
| 9 | Interactions of the human pathogenic Brucella species with their hosts显示文摘 | Atluri V L Xavier M N de Jong M F et M | 2011 | Annu Rev Microbiol2011，65，： | 1 |
| 10 | Cu-Sn coatings obtained from pyrophosphate-based electrolytes 显示文摘 | ADRIANA N C XAVIER F M PEDRO DE L | 2007 | Surface and Coatings Technology2007，201，1617： | 1 |
| 11 | A comparison between the Iosipescu and off-axis shear test methods for the characterization of Pinus Pinaster Ait显示文摘 | Xavier J C Garrido N M Oliveira M | 2004 | Composites Part A: Applied Science and Manufacturing2004，35，： | 1 |
| 12 | Sjogren's syndrome-associated lymphomas: an update on pathogenesis and management显示文摘 | Gaetane N Xavier M | 2015 | BrJ Haematol2015，168，3： | 1 |
| 13 | Concomitant substrate and product inhibition kinetics in lactic acid production显示文摘 | GONCALVES L M D XAVIER A N R B ALMEIDA J S | 1991 | Enzyme Microb Technol1991，13，： | 1 |
| 14 | Raman spectroscopy detection of molecular changes associated with two experimental models of osteoarthritis in rats 显示文摘 | de Souza R A Xavier M Mangueira N M | 2013 | Lasers Med Sci2013，，： | 1 |
| 15 | A methodological approach of climatological modelling of air temperature and precipitation through GIS techniques显示文摘 | Miquel N Xavier Pons Joan M Roure | 2000 | Inte rnational Journal of Climatology2000，20，： | 1 |
| 16 | A comparison between the Iosipescu and off-axis shear test methods for the characterization of Pinus Pinaster Air 显示文摘 | Xavier J C Garrido N M Oliveira M | 2004 | Composites Part A: Applied Science and Manufacturing2004，35，： | 1 |
| 17 | Extraction of red cabbage anthocyanins: optimization of the operation conditions of the column process显示文摘 | XAVIER M F LOPEST J QUADRI M G N | 2008 | Braz Arch Biol Technol2008，51，1： | 1 |
| 18 | strengthening porous ceramics by molten metal in filtration显示文摘 | Souza R M Yoshimura H N Xavier C | 1997 | Key Eng Mater1997，，： | 1 |
| 19 | The IFITM proteins mediate cellular re- sistance to influenza A H1N1 virus, West Nile virus, and denguevirus显示文摘 | Brass A L Huang I C Benita Y John S P Krishnan M N Feeley E M Ryan B J Weyer J L van der Weyden L Fikrig E Adams D J Xavier R J Farzan M Elledge SJ | 2009 | Cell2009，139，12： | 1 |
| 20 | Epidemiologic classification of human papillomvirus types associated with cervical cancer显示文摘 | Nubia Mu(n)oz M D F Xavier Bosch M D Silvia de Sanjosé MD | 2003 | New Eng J Med2003，348，： | 1 |
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