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| 1 | Relationship of MTHFR gene polymorphisms with renal and cardiac disease显示文摘AIM: To investigate the effects of different methylenetetrahydrofolate reductase(MTHFR) 677C>T gene polymorphism and hyperhomocysteinemia for the development of renal failure and cardiovascular events, which are controversial.METHODS: We challenged the relationship, if any, of MTHFR 677C>T and MTHFR 1298A>C polymorphisms with renal and heart function. The present article is a reappraisal of these concepts, investigating within a larger population, and including a subgroup of dialysis patients, if the two most common MTHFR polymorphisms, C677 T and A1298 C, as homozygous, heterozygous or with a compound heterozygous state, show different association with chronic renal failure requiring hemodialysis. MTHFR polymorphism could be a favorable evolutionary factor, i.e., a protective factor for many ominous conditions, like cancer and renal failure. A similar finding was reported in fatty liver disease in which it is suggested that MTHFR polymorphisms could have maintained and maintain their persistence by an heterozygosis advantage mechanism. We studied a total of 630 Italian Caucasian subject aged 54.60 ± 16.35 years, addressing to the increased hazard of hemodialysis, if any, according to the studied MTHFR genetic polymorphisms. RESULTS: A favorable association with normal renal function of MTHFR polymorphisms, and notably of MTHFR C677 T is present independently of the negative effects of left ventricular hypertrophy, increased IntraRenal arterial Resistance and hyperparathyroidism. CONCLUSION: MTHFR gene polymorphisms could have a protective role on renal function as suggested by their lower frequency among our dialysis patients in end-stage renal failure; differently, the association with left ventricular hypertrophy and reduced left ventricular relaxation suggest some type of indirect, or concurrent mechanism. | Francesca M Trovato Daniela Catalano Angela Ragusa G Fabio Martines Clara Pirri Maria Antonietta Buccheri Concetta Di Nora Guglielmo M Trovato | 2015 | World Journal of Nephrology2015，4，1： | 10 |
| 2 | 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 |
| 3 | Headache, anxiety and depressive disorders: the HADAS study显示文摘 | Ettore Beghi Gennaro Bussone Domenico D’Amico Pietro Cortelli Sabina Cevoli Gian Camillo Manzoni Paola Torelli Maria Clara Tonini Giovanni Allais Roberto Simone Florindo D’Onofrio Sergio Genco Franca Moschiano Massimiliano Beghi Sara Salvi | 2010 | The Journal of Headache and Pain2010，，2： | 3 |
| 4 | Endoscopic ultrasound diagnostic gain over computed tomography and magnetic resonance cholang-iopancreatography in defining etiology of idiopathic acute pancreatitis显示文摘BACKGROUND About 10%-30%of acute pancreatitis remain idiopathic(IAP)even after clinical and imaging tests,including abdominal ultrasound(US),contrast-enhanced computed tomography(CECT)and magnetic resonance cholangiopancreatography(MRCP).This is a relevant issue,as up to 20%of patients with IAP have recurrent episodes and 26%of them develop chronic pancreatitis.Few data are available on the role of EUS in clarifying the etiology of IAP after failure of one or more cross-sectional techniques.AIM To evaluate the diagnostic gain after failure of one or more previous crosssectional exams.METHODS We retrospectively collected data about consecutive patients with AP and at least one negative test between US,CECT and MRCP,who underwent linear EUS between January 2017 and December 2020.We investigated the EUS diagnostic yield and the EUS diagnostic gain over different combinations of these crosssectional imaging techniques for the etiologic diagnosis of AP.Types and frequency of EUS diagnosis were also analyzed,and EUS diagnosis was compared with the clinical parameters.After EUS,patients were followed-up for a median of 31.5 mo to detect cases of pancreatitis recurrence.RESULTS We enrolled 81 patients(63%males,mean age 61±18,23%with previous cholecystectomy,17%with recurrent pancreatitis).Overall EUS diagnostic yield for AP etiological diagnosis was 79%(20%lithiasis,31%acute on chronic pancreatitis,14%pancreatic solid or cystic lesions,5%pancreas divisum,5%autoimmune pancreatitis,5%ductal abnormalities),while 21%remained idiopathic.US,CECT and MRCP,taken alone or in combination,led to AP etiological diagnosis in 16(20%)patients;among the remaining 65 patients,49(75%)obtained a diagnosis at EUS,with an overall EUS diagnostic gain of 61%.Sixty-eight patients had negative US;among them,EUS allowed etiological diagnosis in 59(87%).Sixty-three patients had a negative CECT;among them,47(74%)obtained diagnosis with EUS.Twenty-four had a negative MRCP;among them,20(83%)had EUS diagnosis.Twenty-one had negative CT+MRCP,of which 17(81%)had EUS diagnosis,with a EUS diagnostic gain of 63%.Patients with biliary etiology and without previous cholecystectomy had higher median values of alanine aminotransferase(154 vs 25,P=0.010),aspartate aminotransferase(95 vs 29,P=0.018),direct bilirubin(1.2 vs 0.6,P=0.015),gammaglutamyl transpeptidase(180 vs 48,P=0.006)and alkaline phosphatase(150 vs 72,P=0.015)Chronic pancreatitis diagnosis was more frequent in patients with recurrent pancreatitis at baseline(82%vs 21%,P<0.001).During the follow-up,AP recurred in 3 patients,one of which remained idiopathic.CONCLUSION EUS is a good test to define AP etiology.It showed a 63%diagnostic gain over CECT+MRCP.In suitable patients,EUS should always be performed in cases of IAP.Further prospective studies are needed. | Stefano Mazza Biagio Elvo Clara Benedetta Conti Andrea Drago Maria Chiara Verga Sara Soro Annalisa De Silvestri Fabrizio Cereatti Roberto Grassia | 2022 | World Journal of Gastrointestinal Endoscopy2022，14，6： | 3 |
| 5 | Effectiveness of very low-volume preparation for colonoscopy:A prospective, multicenter observational study显示文摘BACKGROUND The effectiveness of colonoscopy strictly depends on adequate bowel cleansing.Recently,a 1 L polyethylene glycol plus ascorbate(PEG-ASC)solution(Plenvu;Norgine,Harefield,United Kingdom)has been introduced on the evidence of three phase-3 randomized controlled trials,but it had never been tested in the real-life.AIM To assess the effectiveness and tolerability of the 1 L preparation compared to 4 L and 2 L-PEG solutions in a real-life setting.METHODS All patients undergoing a screening or diagnostic colonoscopy after a 4,2 or 1 L PEG preparation,were consecutively enrolled in 5 Italian centers from September 2018 to February 2019.The primary endpoints of the study were the assessment of bowel cleansing success and high-quality cleansing of the right colon.The secondary endpoints were the evaluation of tolerability,adherence and safety of the different bowel preparations.Bowel cleansing was assessed through the Boston Bowel Preparation Scale.Adherence was defined as consumption of at least 75%of each dose,while tolerability was evaluated through a semiquantitative scale.Safety was systematically monitored through adverse events reporting.RESULTS Overall,1289 met the inclusion criteria and were enrolled in the study.Of these,490 patients performed a 4 L-PEG preparation(Selgesse^■),566 a 2 L-PEG cleansing(Moviprep^■or Clensia^■)and 233 a 1 L-PEG preparation(Plenvu^■).Bowel cleansing by Boston Bowel Preparation Scale was 6.5±1.5 overall and 6.3±1.5,6.2±1.5,7.3±1.5(P<0.001)in the subgroups of 4 L,2 L and 1 L-PEG preparation,respectively.Cleansing success was achieved in 72.4%,74.1%and 90.1%(P<0.001),while a high-quality cleansing of the right colon in 15.9%,12.0%and 41.4%(P<0.001)for 4 L,2 L and 1 L-PEG preparation groups,respectively.The 1 L preparation was the most tolerated compared to the 2 and 4 L-PEG solutions in the absence of serious adverse events within any of the three groups.Multiple regression models confirmed 1 L PEG-ASC preparation as an independent predictor of overall cleansing success,high-quality cleansing of the right colon and of tolerability.CONCLUSION This study supports the effectiveness and tolerability of 1 L PEG-ASC,also showing it is an independent predictor of overall cleansing success,high-quality cleansing of the right colon and of tolerability. | Marcello Maida Emanuele Sinagra Gaetano Cristian Morreale Sandro Sferrazza Giuseppe Scalisi Dario Schillaci Marco Ventimiglia Fabio Salvatore Macaluso Giovanni Vettori Giuseppe Conoscenti Concetta Di Bartolo Serena Garufi Domenico Catarella Michele Manganaro Clara Maria Virgilio Salvatore Camilleri | 2020 | World Journal of Gastroenterology2020，26，16： | 2 |
| 6 | A human ESC model for MLL-AF4 leukemic fusion gene reveals an impaired early hematopoietic-endothelial specification显示文摘MLL-AF4 熔化基因是在在婴儿的高风险的尖锐成淋巴细胞的白血病的一个特点 genomic 错误。尽管 MLL-AF4 在人的开发期间出生前地产生,这很好被建立,它在在 utero 的造血的开发的效果仍然保持未经勘探。我们创造了一个人特定的细胞的系统在 MLL-AF4-expressing 人的胚胎的干细胞(hESCs ) 学习早 hemato-endothelial 开发。介绍的功能的研究,同种细胞的分析和基因表示表明在 hESCs 的 MLL-AF4 的那表情有 phenotypic,功能并且基因表示影响。MLL-AF4 在 hESCs 充当全球 transcriptional 使活跃之物和 homeobox 基因表示的一个积极管理者。机能上地, MLL-AF4 从 hESCs 提高 hemogenic 先锋的说明,但是强烈损害进一步造血的承诺赞成 endothelial 房间命运。MLL-AF4 hESCs transcriptionally 被告知向对 endothelial 成熟敏感的 hemogenic 先锋区分,由联系到 vascular-endothelial 功能和早造血作用的主人基因的显著 upregulation 思考了。而且,我们报导那 MLL-AF4 表情不是足够的转变导出 hESC 的造血的房间。这个工作说明 hESCs 怎么可以提供唯一的卓见进人的开发并且推进我们理解白血病的熔化基因,知道出生前地产生,调整人的胚胎的造血的说明。 | Clara Bueno Rosa Montes Gustavo J Melen Verdnica Ramos-Mejia Pedro J Real Ver6nica Ayllo'n Laura Sanchez Gertmdis Ligero Inmaculada Gutierrez-Aranda Agustin F Femfindez Mario F Fraga Inmaculada Moreno-Gimeno Deborah Btlrks Maria del Carmen Plaza-Calonge Juan C Rodriguez-Manzaneque Pablo Menendez | 2012 | Cell Research2012，22，6： | 2 |
| 7 | Effective use of FibroTest to generate decision trees in hepatitis C显示文摘AIM:To assess the usefulness of FibroTest to forecast scores by constructing decision trees in patients with chronic hepatitis C.METHODS:We used the C4.5 classification algorithm to construct decision trees with data from 261 patients with chronic hepatitis C without a liver biopsy.The FibroTest attributes of age,gender,bilirubin,apolipoprotein,haptoglobin,α2 macroglobulin,and γ-glutamyl transpeptidase were used as predictors,and the FibroTest score as the target.For testing,a 10-fold cross validation was used.RESULTS:The overall classification error was 14.9%(accuracy 85.1%).FibroTest's cases with true scores of F0 and F4 were classified with very high accuracy(18/20 for F0,9/9 for F0-1 and 92/96 for F4) and the largest confusion centered on F3.The algorithm produced a set of compound rules out of the ten classification trees and was used to classify the 261 patients.The rules for the classification of patients in F0 and F4 were effective in more than 75% of the cases in which they were tested.CONCLUSION:The recognition of clinical subgroups should help to enhance our ability to assess differences in fibrosis scores in clinical studies and improve our understanding of fibrosis progression. | Dana Lau-Corona Luís Alberto Pineda Héctor Hugo Avilés Gabriela Gutiérrez-Reyes Blanca Eugenia Farfan-Labonne Rafael Núez-Nateras Alan Bonder Rosalinda Martínez-García Clara Corona-Lau Marco Antonio Olivera-Martínez Maria Concepción Gutiérrez-Ruiz Guillermo Robles-Díaz David Kershenobich | 2009 | World Journal of Gastroenterology2009，15，21： | 2 |
| 8 | Pivotal Role of mTOR Signaling in Hepatocellular Carcinoma显示文摘 | Augusto Villanueva Derek Y. Chiang Pippa Newell Judit Peix Swan Thung Clara Alsinet Victoria Tovar Sasan Roayaie Beatriz Minguez Manel Sole Carlo Battiston Stijn van Laarhoven Maria I. Fiel Analisa Di Feo Yujin Hoshida Steven Yea Sara Toffanin Alex Ramos | 2008 | Gastroenterology2008，，6： | 1 |
| 9 | High Zn and Cd accumulation in the oyster Crassostrea rhizophorae , and its relevance as a sentinel species显示文摘 | Mauro de Freitas Rebelo Maria Clara Rebou?as do Amaral Wolfgang Chritstian Pfeiffer | 2003 | Marine Pollution Bulletin2003，，10： | 1 |
| 10 | Serum calprotectin levels correlate with biochemical and histological markers of disease activity in TNBS colitis显示文摘 | Didia Bismara Cury Sender Jankiel Mizsputen Clara Versolato Luciana Odashiro Miiji Edson Pereira Maria Aparecida Delboni Nestor Schor Alan C. Moss | 2013 | Cellular Immunology2013，，1： | 1 |
| 11 | Uncommon patterns of presentation ofleukemia显示文摘 | Carlos V Maria RB Clara DB | 1999 | Hematol Oneol1999，17，1： | 1 |
| 12 | Does the Clam Ensis siliqua Provide Useful Information About Contamination by Polychlorinated Biphenyls and Organochlo~_ne Pesticides Beyond that of Mussel Mytilus galloprovincialis显示文摘 | Maria C F Maria T Ci Clara N | 2014 | Bulletin of Environmental Contamination and Toxicology2014，，92： | 1 |
| 13 | Distribution of volatile organic compounds in Sicilian groundwaters analysed by head space-solid phase micro extraction coupled with gas chromatography mass spectrometry (SPME/GC/MS)显示文摘 | Giovannella Pecoraino Lea Scalici Giuseppe Avellone Leopoldo Ceraulo Rocco Favara Esterina Gagliano Candela Maria Clara Provenzano Claudio Scaletta | 2008 | Water Research2008，，14： | 1 |
| 14 | Extended right split liver graft for primary transplantation in children and adults*显示文摘 | Vittorio Corno Michele Colledan Maria Clara Dezza Michela Guizzetti Alessandro Lucianetti Gregorio Maldini Domenico Pinelli Mara Giovanelli Marco Zambelli Giuliano Torre Mario Strazzabosco | 2006 | Transplant International2006，，6： | 1 |
| 15 | Gastric per-oral endoscopic myotomy:Indications,technique,results and comparison with surgical approach显示文摘Gastroparesis is a chronic disease of the stomach that causes a delayed gastric emptying,without the presence of a stenosis.For 30 years the authors identified pylorospasm as one of the most important pathophysiological mechanisms determining gastroparesis.Studies with EndoFLIP,a device that assesses pyloric distensibility,increased the knowledge about pylorospasm.Based on this data,several pyloric-targeted therapies were developed to treat refractory gastroparesis:Surgical pyloroplasty and endoscopic approach,such as pyloric injection of botulinum and pyloric stenting.Notwithstanding,the success of most of these techniques is still not complete.In 2013,the first human gastric per-oral endoscopic myotomy(GPOEM)was performed.It was inspired by the POEM technique,with a similar dissection method,that allows pyloromyotomy.Therapeutical results of GPOEM are similar to surgical approach in term of clinical success,adverse events and post-surgical pain.In the last 8 years GPOEM has gained the attention of the scientific community,as a minimally invasive technique with high rate of clinical success,quickly prevailing as a promising therapy for gastroparesis.Not surprisingly,in referral centers,its technical success rate is 100%.One of the main goals of recent studies is to identify those patients that will respond better to the therapies targeted on pylorus and to choose the better approach for each patient. | Maria Chiara Verga Stefano Mazza Francesco Azzolini Fabrizio Cereatti Clara Benedetta Conti Andrea Drago Sara Soro Biagio Elvo Roberto Grassia | 2022 | World Journal of Gastrointestinal Surgery2022，14，1： | 1 |
| 16 | Circulating microRNA changes in heart failure patients treated with cardiac resynchronization therapy: responders vs. non-responders显示文摘 | Raffaele Marfella Clara Di Filippo Nicoletta Potenza Celestino Sardu Maria Rosaria Rizzo Mario Siniscalchi Emilio Musacchio Michelangela Barbieri Ciro Mauro Nicola Mosca Francesco Solimene Maria Teresa Mottola Aniello Russo Francesco Rossi Giuseppe Paolis | 2013 | European Journal of Heart Failure2013，，： | 1 |
| 17 | Bioaccumulation and depuration of Zn and Cd in mangrove oysters (Crassostrea rhizophorae, Guilding, 1828) transplanted to and from a contaminated tropical coastal lagoon显示文摘 | Maria Clara Reboucas do Amaral Mauro de Freitas Rebelo | 2005 | Marine Environmental Research2005，59，： | 1 |
| 18 | A comparative study of ultra-deep pyrosequencing and cloning to quantitatively analyze the viral quasispecies using hepatitis B virus infection as a model显示文摘 | Clara Ramírez Josep Gregori Maria Buti David Tabernero Sílvia Camós Rosario Casillas Josep Quer Rafael Esteban Maria Homs Francisco Rodriguez-Frías | 2013 | Antiviral Research2013，，2： | 1 |
| 19 | Microstructural and hardness investigation of an aluminum-copper alloy processed by laser surface melting 显示文摘 | Maria Aparecida Pinto Noe Cheung Maria Clara Filippini Ierardi | 2003 | Materials Characterization2003，50，： | 1 |
| 20 | p75 Co-receptors regulate ligand-dependent and ligand-independent Trk receptor activation, in Part by Altering Trk Docking Subdomains 显示文摘 | Maria Clara Zaccaro Ljubica Ivanisevic Pilar Perez | 2003 | J Biol Chem2003，276，31： | 1 |
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