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252 results on '"Cottone, M"'

1. Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data

Author: Romagnoni, A., Jegou, S., Van Steen, K., Wainrib, G., Hugot, J. -P., Peyrin-Biroulet, L., Chamaillard, M., Colombel, J. -F., Cottone, M., D'Amato, M., D'Inca, R., Halfvarson, J., Henderson, P., Karban, A., Kennedy, N. A., Khan, M. A., Lemann, M., Levine, A., Massey, D., Milla, M., S. M. E., Ng, Oikonomou, I., Peeters, H., Proctor, D. D., Rahier, J. -F., Rutgeerts, P., Seibold, F., Stronati, L., Taylor, K. M., Torkvist, L., Ublick, K., Van Limbergen, J., Van Gossum, A., Vatn, M. H., Zhang, H., Zhang, W., Andrews, J. M., Bampton, P. A., Barclay, M., Florin, T. H., Gearry, R., Krishnaprasad, K., Lawrance, I. C., Mahy, G., Montgomery, G. W., Radford-Smith, G., Roberts, R. L., Simms, L. A., Hanigan, K., Croft, A., Amininijad, L., Cleynen, I., Dewit, O., Franchimont, D., Georges, M., Laukens, D., Theatre, E., Vermeire, S., Aumais, G., Baidoo, L., Barrie, A. M., Beck, K., Bernard, E. -J., Binion, D. G., Bitton, A., Brant, S. R., Cho, J. H., Cohen, A., Croitoru, K., Daly, M. J., Datta, L. W., Deslandres, C., Duerr, R. H., Dutridge, D., Ferguson, J., Fultz, J., Goyette, P., Greenberg, G. R., Haritunians, T., Jobin, G., Katz, S., Lahaie, R. G., Mcgovern, D. P., Nelson, L., S. M., Ng, Ning, K., Pare, P., Regueiro, M. D., Rioux, J. D., Ruggiero, E., Schumm, L. P., Schwartz, M., Scott, R., Sharma, Y., Silverberg, M. S., Spears, D., Steinhart, A. H., Stempak, J. M., Swoger, J. M., Tsagarelis, C., Zhang, C., Zhao, H., Aerts, J., Ahmad, T., Arbury, H., Attwood, A., Auton, A., Ball, S. G., Balmforth, A. J., Barnes, C., Barrett, J. C., Barroso, I., Barton, A., Bennett, A. J., Bhaskar, S., Blaszczyk, K., Bowes, J., Brand, O. J., Braund, P. S., Bredin, F., Breen, G., Brown, M. J., Bruce, I. N., Bull, J., Burren, O. S., Burton, J., Byrnes, J., Caesar, S., Cardin, N., Clee, C. M., Coffey, A. J., MC Connell, J., Conrad, D. F., Cooper, J. D., Dominiczak, A. F., Downes, K., Drummond, H. E., Dudakia, D., Dunham, A., Ebbs, B., Eccles, D., Edkins, S., Edwards, C., Elliot, A., Emery, P., Evans, D. M., Evans, G., Eyre, S., Farmer, A., Ferrier, I. N., Flynn, E., Forbes, A., Forty, L., Franklyn, J. A., Frayling, T. M., Freathy, R. M., Giannoulatou, E., Gibbs, P., Gilbert, P., Gordon-Smith, K., Gray, E., Green, E., Groves, C. J., Grozeva, D., Gwilliam, R., Hall, A., Hammond, N., Hardy, M., Harrison, P., Hassanali, N., Hebaishi, H., Hines, S., Hinks, A., Hitman, G. A., Hocking, L., Holmes, C., Howard, E., Howard, P., Howson, J. M. M., Hughes, D., Hunt, S., Isaacs, J. D., Jain, M., Jewell, D. P., Johnson, T., Jolley, J. D., Jones, I. R., Jones, L. A., Kirov, G., Langford, C. F., Lango-Allen, H., Lathrop, G. M., Lee, J., Lee, K. L., Lees, C., Lewis, K., Lindgren, C. M., Maisuria-Armer, M., Maller, J., Mansfield, J., Marchini, J. L., Martin, P., Massey, D. C., Mcardle, W. L., Mcguffin, P., Mclay, K. E., Mcvean, G., Mentzer, A., Mimmack, M. L., Morgan, A. E., Morris, A. P., Mowat, C., Munroe, P. B., Myers, S., Newman, W., Nimmo, E. R., O'Donovan, M. C., Onipinla, A., Ovington, N. R., Owen, M. J., Palin, K., Palotie, A., Parnell, K., Pearson, R., Pernet, D., Perry, J. R., Phillips, A., Plagnol, V., Prescott, N. J., Prokopenko, I., Quail, M. A., Rafelt, S., Rayner, N. W., Reid, D. M., Renwick, A., Ring, S. M., Robertson, N., Robson, S., Russell, E., Clair, D. S., Sambrook, J. G., Sanderson, J. D., Sawcer, S. J., Schuilenburg, H., Scott, C. E., Seal, S., Shaw-Hawkins, S., Shields, B. M., Simmonds, M. J., Smyth, D. J., Somaskantharajah, E., Spanova, K., Steer, S., Stephens, J., Stevens, H. E., Stirrups, K., Stone, M. A., Strachan, D. P., Su, Z., Symmons, D. P. M., Thompson, J. R., Thomson, W., Tobin, M. D., Travers, M. E., Turnbull, C., Vukcevic, D., Wain, L. V., Walker, M., Walker, N. M., Wallace, C., Warren-Perry, M., Watkins, N. A., Webster, J., Weedon, M. N., Wilson, A. G., Woodburn, M., Wordsworth, B. P., Yau, C., Young, A. H., Zeggini, E., Brown, M. A., Burton, P. R., Caulfield, M. J., Compston, A., Farrall, M., Gough, S. C. L., Hall, A. S., Hattersley, A. T., Hill, A. V. S., Mathew, C. G., Pembrey, M., Satsangi, J., Stratton, M. R., Worthington, J., Hurles, M. E., Duncanson, A., Ouwehand, W. H., Parkes, M., Rahman, N., Todd, J. A., Samani, N. J., Kwiatkowski, D. P., Mccarthy, M. I., Craddock, N., Deloukas, P., Donnelly, P., Blackwell, J. M., Bramon, E., Casas, J. P., Corvin, A., Jankowski, J., Markus, H. S., Palmer, C. N., Plomin, R., Rautanen, A., Trembath, R. C., Viswanathan, A. C., Wood, N. W., Spencer, C. C. A., Band, G., Bellenguez, C., Freeman, C., Hellenthal, G., Pirinen, M., Strange, A., Blackburn, H., Bumpstead, S. J., Dronov, S., Gillman, M., Jayakumar, A., Mccann, O. T., Liddle, J., Potter, S. C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P., Romagnoni, A., Jegou, S., Van Steen, K., Wainrib, G., Hugot, J. -P., Peyrin-Biroulet, L., Chamaillard, M., Colombel, J. -F., Cottone, M., D'Amato, M., D'Inca, R., Halfvarson, J., Henderson, P., Karban, A., Kennedy, N. A., Khan, M. A., Lemann, M., Levine, A., Massey, D., Milla, M., Ng, S. M. E., Oikonomou, I., Peeters, H., Proctor, D. D., Rahier, J. -F., Rutgeerts, P., Seibold, F., Stronati, L., Taylor, K. M., Torkvist, L., Ublick, K., Van Limbergen, J., Van Gossum, A., Vatn, M. H., Zhang, H., Zhang, W., Andrews, J. M., Bampton, P. A., Barclay, M., Florin, T. H., Gearry, R., Krishnaprasad, K., Lawrance, I. C., Mahy, G., Montgomery, G. W., Radford-Smith, G., Roberts, R. L., Simms, L. A., Hanigan, K., Croft, A., Amininijad, L., Cleynen, I., Dewit, O., Franchimont, D., Georges, M., Laukens, D., Theatre, E., Vermeire, S., Aumais, G., Baidoo, L., Barrie, A. M., Beck, K., Bernard, E. -J., Binion, D. G., Bitton, A., Brant, S. R., Cho, J. H., Cohen, A., Croitoru, K., Daly, M. J., Datta, L. W., Deslandres, C., Duerr, R. H., Dutridge, D., Ferguson, J., Fultz, J., Goyette, P., Greenberg, G. R., Haritunians, T., Jobin, G., Katz, S., Lahaie, R. G., Mcgovern, D. P., Nelson, L., Ng, S. M., Ning, K., Pare, P., Regueiro, M. D., Rioux, J. D., Ruggiero, E., Schumm, L. P., Schwartz, M., Scott, R., Sharma, Y., Silverberg, M. S., Spears, D., Steinhart, A. H., Stempak, J. M., Swoger, J. M., Tsagarelis, C., Zhang, C., Zhao, H., Aerts, J., Ahmad, T., Arbury, H., Attwood, A., Auton, A., Ball, S. G., Balmforth, A. J., Barnes, C., Barrett, J. C., Barroso, I., Barton, A., Bennett, A. J., Bhaskar, S., Blaszczyk, K., Bowes, J., Brand, O. J., Braund, P. S., Bredin, F., Breen, G., Brown, M. J., Bruce, I. N., Bull, J., Burren, O. S., Burton, J., Byrnes, J., Caesar, S., Cardin, N., Clee, C. M., Coffey, A. J., MC Connell, J., Conrad, D. F., Cooper, J. D., Dominiczak, A. F., Downes, K., Drummond, H. E., Dudakia, D., Dunham, A., Ebbs, B., Eccles, D., Edkins, S., Edwards, C., Elliot, A., Emery, P., Evans, D. M., Evans, G., Eyre, S., Farmer, A., Ferrier, I. N., Flynn, E., Forbes, A., Forty, L., Franklyn, J. A., Frayling, T. M., Freathy, R. M., Giannoulatou, E., Gibbs, P., Gilbert, P., Gordon-Smith, K., Gray, E., Green, E., Groves, C. J., Grozeva, D., Gwilliam, R., Hall, A., Hammond, N., Hardy, M., Harrison, P., Hassanali, N., Hebaishi, H., Hines, S., Hinks, A., Hitman, G. A., Hocking, L., Holmes, C., Howard, E., Howard, P., Howson, J. M. M., Hughes, D., Hunt, S., Isaacs, J. D., Jain, M., Jewell, D. P., Johnson, T., Jolley, J. D., Jones, I. R., Jones, L. A., Kirov, G., Langford, C. F., Lango-Allen, H., Lathrop, G. M., Lee, J., Lee, K. L., Lees, C., Lewis, K., Lindgren, C. M., Maisuria-Armer, M., Maller, J., Mansfield, J., Marchini, J. L., Martin, P., Massey, D. C., Mcardle, W. L., Mcguffin, P., Mclay, K. E., Mcvean, G., Mentzer, A., Mimmack, M. L., Morgan, A. E., Morris, A. P., Mowat, C., Munroe, P. B., Myers, S., Newman, W., Nimmo, E. R., O'Donovan, M. C., Onipinla, A., Ovington, N. R., Owen, M. J., Palin, K., Palotie, A., Parnell, K., Pearson, R., Pernet, D., Perry, J. R., Phillips, A., Plagnol, V., Prescott, N. J., Prokopenko, I., Quail, M. A., Rafelt, S., Rayner, N. W., Reid, D. M., Renwick, A., Ring, S. M., Robertson, N., Robson, S., Russell, E., Clair, D. S., Sambrook, J. G., Sanderson, J. D., Sawcer, S. J., Schuilenburg, H., Scott, C. E., Seal, S., Shaw-Hawkins, S., Shields, B. M., Simmonds, M. J., Smyth, D. J., Somaskantharajah, E., Spanova, K., Steer, S., Stephens, J., Stevens, H. E., Stirrups, K., Stone, M. A., Strachan, D. P., Su, Z., Symmons, D. P. M., Thompson, J. R., Thomson, W., Tobin, M. D., Travers, M. E., Turnbull, C., Vukcevic, D., Wain, L. V., Walker, M., Walker, N. M., Wallace, C., Warren-Perry, M., Watkins, N. A., Webster, J., Weedon, M. N., Wilson, A. G., Woodburn, M., Wordsworth, B. P., Yau, C., Young, A. H., Zeggini, E., Brown, M. A., Burton, P. R., Caulfield, M. J., Compston, A., Farrall, M., Gough, S. C. L., Hall, A. S., Hattersley, A. T., Hill, A. V. S., Mathew, C. G., Pembrey, M., Satsangi, J., Stratton, M. R., Worthington, J., Hurles, M. E., Duncanson, A., Ouwehand, W. H., Parkes, M., Rahman, N., Todd, J. A., Samani, N. J., Kwiatkowski, D. P., Mccarthy, M. I., Craddock, N., Deloukas, P., Donnelly, P., Blackwell, J. M., Bramon, E., Casas, J. P., Corvin, A., Jankowski, J., Markus, H. S., Palmer, C. N., Plomin, R., Rautanen, A., Trembath, R. C., Viswanathan, A. C., Wood, N. W., Spencer, C. C. A., Band, G., Bellenguez, C., Freeman, C., Hellenthal, G., Pirinen, M., Strange, A., Blackburn, H., Bumpstead, S. J., Dronov, S., Gillman, M., Jayakumar, A., Mccann, O. T., Liddle, J., Potter, S. C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P., Daly, Mark J. [0000-0002-0949-8752], Apollo - University of Cambridge Repository, Hugot, Jean-Pierre [0000-0002-8446-6056], UCL - SSS/IREC/GAEN - Pôle d'Hépato-gastro-entérologie, UCL - (MGD) Service de gastro-entérologie, Romagnoni, A, Jegou, S, VAN STEEN, Kristel, Wainrib, G, Hugot, JP, Peyrin-Biroulet, L, Chamaillard, M, Colombel, JF, Cottone, M, D'Amato, M, D'Inca, R, Halfvarson, J, Henderson, P, Karban, A, Kennedy, NA, Khan, MA, Lemann, M, Levine, A, Massey, D, Milla, M, Ng, SME, Oikonomou, I, Peeters, H, Proctor, DD, Rahier, JF, Rutgeerts, P, Seibold, F, Stronati, L, Taylor, KM, Torkvist, L, Ublick, K, Van Limbergen, J, Van Gossum, A, Vatn, MH, Zhang, H, Zhang, W, Andrews, JM, Bampton, PA, Barclay, M, Florin, TH, Gearry, R, Krishnaprasad, K, Lawrance, IC, Mahy, G, Montgomery, GW, Radford-Smith, G, Roberts, RL, Simms, LA, Hanigan, K, Croft, A, Amininijad, L, Cleynen, I, Dewit, O, Franchimont, D, Georges, M, Laukens, D, Theatre, E, Vermeire, S, Aumais, G, Baidoo, L, Barrie, AM, Beck, K, Bernard, EJ, Binion, DG, Bitton, A, Brant, SR, Cho, JH, Cohen, A, Croitoru, K, Daly, MJ, Datta, LW, Deslandres, C, Duerr, RH, Dutridge, D, Ferguson, J, Fultz, J, Goyette, P, Greenberg, GR, Haritunians, T, Jobin, G, Katz, S, Lahaie, RG, McGovern, DP, Nelson, L, Ng, SM, Ning, K, Pare, P, Regueiro, MD, Rioux, JD, Ruggiero, E, Schumm, LP, Schwartz, M, Scott, R, Sharma, Y, Silverberg, MS, Spears, D, Steinhart, AH, Stempak, JM, Swoger, JM, Tsagarelis, C, Zhang, C, Zhao, HY, AERTS, Jan, Ahmad, T, Arbury, H, Attwood, A, Auton, A, Ball, SG, Balmforth, AJ, Barnes, C, Barrett, JC, Barroso, I, Barton, A, Bennett, AJ, Bhaskar, S, Blaszczyk, K, Bowes, J, Brand, OJ, Braund, PS, Bredin, F, Breen, G, Brown, MJ, Bruce, IN, Bull, J, Burren, OS, Burton, J, Byrnes, J, Caesar, S, Cardin, N, Clee, CM, Coffey, AJ, Mc Connell, J, Conrad, DF, Cooper, JD, Dominiczak, AF, Downes, K, Drummond, HE, Dudakia, D, Dunham, A, Ebbs, B, Eccles, D, Edkins, S, Edwards, C, Elliot, A, Emery, P, Evans, DM, Evans, G, Eyre, S, Farmer, A, Ferrier, IN, Flynn, E, Forbes, A, Forty, L, Franklyn, JA, Frayling, TM, Freathy, RM, Giannoulatou, E, Gibbs, P, Gilbert, P, Gordon-Smith, K, Gray, E, Green, E, Groves, CJ, Grozeva, D, Gwilliam, R, Hall, A, Hammond, N, Hardy, M, Harrison, P, Hassanali, N, Hebaishi, H, Hines, S, Hinks, A, Hitman, GA, Hocking, L, Holmes, C, Howard, E, Howard, P, Howson, JMM, Hughes, D, Hunt, S, Isaacs, JD, Jain, M, Jewell, DP, Johnson, T, Jolley, JD, Jones, IR, Jones, LA, Kirov, G, Langford, CF, Lango-Allen, H, Lathrop, GM, Lee, J, Lee, KL, Lees, C, Lewis, K, Lindgren, CM, Maisuria-Armer, M, Maller, J, Mansfield, J, Marchini, JL, Martin, P, Massey, DCO, McArdle, WL, McGuffin, P, McLay, KE, McVean, G, Mentzer, A, Mimmack, ML, Morgan, AE, Morris, AP, Mowat, C, Munroe, PB, Myers, S, Newman, W, Nimmo, ER, O'Donovan, MC, Onipinla, A, Ovington, NR, Owen, MJ, Palin, K, Palotie, A, Parnell, K, Pearson, R, Pernet, D, Perry, JRB, Phillips, A, Plagnol, V, Prescott, NJ, Prokopenko, I, Quail, MA, Rafelt, S, Rayner, NW, Reid, DM, Renwick, A, Ring, SM, Robertson, N, Robson, S, Russell, E, St Clair, D, Sambrook, JG, Sanderson, JD, Sawcer, SJ, Schuilenburg, H, Scott, CE, Seal, S, Shaw-Hawkins, S, Shields, BM, Simmonds, MJ, Smyth, DJ, Somaskantharajah, E, Spanova, K, Steer, S, Stephens, J, Stevens, HE, Stirrups, K, Stone, MA, Strachan, DP, Su, Z, Symmons, DPM, Thompson, JR, Thomson, W, Tobin, MD, Travers, ME, Turnbull, C, Vukcevic, D, Wain, LV, Walker, M, Walker, NM, Wallace, C, Warren-Perry, M, Watkins, NA, Webster, J, Weedon, MN, Wilson, AG, Woodburn, M, Wordsworth, BP, Yau, C, Young, AH, Zeggini, E, Brown, MA, Burton, PR, Caulfield, MJ, Compston, A, Farrall, M, Gough, SCL, Hall, AS, Hattersley, AT, Hill, AVS, Mathew, CG, Pembrey, M, Satsangi, J, Stratton, MR, Worthington, J, Hurles, ME, Duncanson, A, Ouwehand, WH, Parkes, M, Rahman, N, Todd, JA, Samani, NJ, Kwiatkowski, DP, McCarthy, MI, Craddock, N, Deloukas, P, Donnelly, P, Blackwell, JM, Bramon, E, Casas, JP, Corvin, A, Jankowski, J, Markus, HS, Palmer, CNA, Plomin, R, Rautanen, A, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Pirinen, M, Strange, A, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, and Kwiatkowski, D
Subjects: Male, 692/4020/1503/257/1402, Genotype, Genotyping Techniques, LOCI, 45/43, lcsh:Medicine, Polymorphism, Single Nucleotide, Crohn's disease, genetics, genome wide association, Article, Deep Learning, Crohn Disease, INDEL Mutation, Genetics research, Humans, genetics, Genetic Predisposition to Disease, 129, lcsh:Science, Alleles, Science & Technology, genome wide association, RISK PREDICTION, 45, Models, Genetic, lcsh:R, Decision Trees, 692/308/2056, ASSOCIATION, Multidisciplinary Sciences, Crohn's disease, Logistic Models, Nonlinear Dynamics, ROC Curve, Area Under Curve, Science & Technology - Other Topics, lcsh:Q, Female, Neural Networks, Computer, INFLAMMATORY-BOWEL-DISEASE, Genome-Wide Association Study
Abstract: Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machine learning (ML) approaches incited us to apply them to classify healthy and diseased people according to their genomic information. The Immunochip dataset containing 18,227 CD patients and 34,050 healthy controls enrolled and genotyped by the international Inflammatory Bowel Disease genetic consortium (IIBDGC) has been re-analyzed using a set of ML methods: penalized logistic regression (LR), gradient boosted trees (GBT) and artificial neural networks (NN). The main score used to compare the methods was the Area Under the ROC Curve (AUC) statistics. The impact of quality control (QC), imputing and coding methods on LR results showed that QC methods and imputation of missing genotypes may artificially increase the scores. At the opposite, neither the patient/control ratio nor marker preselection or coding strategies significantly affected the results. LR methods, including Lasso, Ridge and ElasticNet provided similar results with a maximum AUC of 0.80. GBT methods like XGBoost, LightGBM and CatBoost, together with dense NN with one or more hidden layers, provided similar AUC values, suggesting limited epistatic effects in the genetic architecture of the trait. ML methods detected near all the genetic variants previously identified by GWAS among the best predictors plus additional predictors with lower effects. The robustness and complementarity of the different methods are also studied. Compared to LR, non-linear models such as GBT or NN may provide robust complementary approaches to identify and classify genetic markers. Tis work was supported by Fondation pour la Recherche Médical (ref DEI20151234405) and Investissements d’Avenir programme ANR-11-IDEX-0005-02, Sorbonne Paris Cite, Laboratoire d’excellence INFLAMEX. Te authors thank the students that participated to the wisdom of the crowd exercise.
Published: 2019

2. Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

Author: Patsopoulos, NA, Baranzini, SE, Santaniello, A, Shoostari, P, Cotsapas, C, Wong, G, Beecham, AH, James, T, Replogle, J, Vlachos, IS, McCabe, C, Pers, TH, Brandes, A, White, C, Keenan, B, Cimpean, M, Winn, P, Panteliadis, IP, Robbins, A, Andlauer, TFM, Zarzycki, O, Dubois, B, Goris, A, Sondergaard, HB, Sellebjerg, F, Sorensen, PS, Ullum, H, Thorner, LW, Saarela, J, Cournu-Rebeix, I, Damotte, V, Fontaine, B, Guillot-Noel, L, Lathrop, M, Vukusic, S, Berthele, A, Pongratz, V, Gasperi, C, Graetz, C, Grummel, V, Hemmer, B, Hoshi, M, Knier, B, Korn, T, Lill, CM, Luessi, F, Muhlau, M, Zipp, F, Dardiotis, E, Agliardi, C, Amoroso, A, Barizzone, N, Benedetti, MD, Bernardinelli, L, Cavalla, P, Clarelli, F, Comi, G, Cusi, D, Esposito, F, Ferre, L, Galimberti, D, Guaschino, C, Leone, MA, Martinelli, V, Moiola, L, Salvetti, M, Sorosina, M, Vecchio, D, Zauli, A, Santoro, S, Mancini, N, Zuccala, M, Mescheriakova, J, van Duijn, C, Bos, SD, Celius, EG, Spurkland, A, Comabella, M, Montalban, X, Alfredsson, L, Bomfim, IL, Gomez-Cabrero, D, Hillert, J, Jagodic, M, Linden, M, Piehl, F, Jelcic, I, Martin, R, Sospedra, M, Baker, A, Ban, M, Hawkins, C, Hysi, P, Kalra, S, Karpe, F, Khadake, J, Lachance, G, Molyneux, P, Neville, M, Thorpe, J, Bradshaw, E, Caillier, SJ, Calabresi, P, Cree, BAC, Cross, A, Davis, M, de Bakker, PWI, Delgado, S, Dembele, M, Edwards, K, Fitzgerald, K, Frohlich, IY, Gourraud, PA, Haines, JL, Hakonarson, H, Kimbrough, D, Isobe, N, Konidari, I, Lathi, E, Lee, MH, Li, T, An, D, Zimmer, A, Madireddy, L, Manrique, CP, Mitrovic, M, Olah, M, Patrick, E, Pericak-Vance, MA, Piccio, L, Schaefer, C, Weiner, H, Lage, K, Scott, RJ, Lechner-Scott, J, Leal, R, Moscato, P, Booth, DR, Stewart, GJ, Vucic, S, Pame, G, BamettO, M, Mason, D, GriffithS, L, Broadley, S, Tajouri, L, Baxter, A, Slee, M, Taylor, BV, Charlesworth, J, Kilpatrick, TJ, Rubio, J, Jokubaitis, V, Wiley, J, Butzkueven, H, Leslie, S, Motyer, A, Stankovich, J, Carroll, WM, Kermode, AG, Edrin, M, Barclay, M, Peyrin-Biroulet, L, Chamaillard, M, Colombe, JF, Cottone, M, Croft, A, D'Inca, R, Halfvarson, J, Hanigan, K, Henderson, P, Hugot, JP, Karban, A, Kennedy, NA, Khan, MA, Lemann, M, Levine, A, Massey, D, Milla, M, Motoey, GW, Ng, SME, Oikonomnou, J, Peeters, H, Proctor, DD, Rahier, JF, Roberts, R, Rutgeerts, P, Seibold, F, Stronati, L, Taylor, KM, Torkvist, L, Ublick, K, Van Limbergen, J, Van Gossum, A, Vatn, MH, Zhang, H, Zhang, W, Donnelly, P, Barroso, I, Blackwe, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Sul, Z, Vukcevic, DA, Langford, C, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Compston, A, Hafler, D, Harbo, HF, Hauser, SL, Stewart, G, D'Alfonso, S, Hadjigeorgiou, G, Taylor, B, Barcellos, LF, Booth, D, Hintzen, R, Kockum, I, Martinelli-Boneschi, F, McCauley, JL, Oksenberg, JR, Oturai, A, Sawcer, S, Ivinson, AJ, Olsson, T, De Jager, PL, Patsopoulos, Na, Baranzini, Se, Santaniello, A, Shoostari, P, Cotsapas, C, Wong, G, Beecham, Ah, James, T, Replogle, J, Vlachos, I, Mccabe, C, Pers, Th, Brandes, A, White, C, Keenan, B, Cimpean, M, Winn, P, Panteliadis, Ip, Robbins, A, Andlauer, Tfm, Zarzycki, O, Dubois, B, Goris, A, Sondergaard, Hb, Sellebjerg, F, Sorensen, P, Ullum, H, Thorner, Lw, Saarela, J, Cournu-Rebeix, I, Damotte, V, Fontaine, B, Guillot-Noel, L, Lathrop, M, Vukusic, S, Berthele, A, Pongratz, V, Gasperi, C, Graetz, C, Grummel, V, Hemmer, B, Hoshi, M, Knier, B, Korn, T, Lill, Cm, Luessi, F, Muhlau, M, Zipp, F, Dardiotis, E, Agliardi, C, Amoroso, A, Barizzone, N, Benedetti, Md, Bernardinelli, L, Cavalla, P, Clarelli, F, Comi, G, Cusi, D, Esposito, F, Ferre, L, Galimberti, D, Guaschino, C, Leone, Ma, Martinelli, V, Moiola, L, Salvetti, M, Sorosina, M, Vecchio, D, Zauli, A, Santoro, S, Mancini, N, Zuccala, M, Mescheriakova, J, van Duijn, C, Bos, Sd, Celius, Eg, Spurkland, A, Comabella, M, Montalban, X, Alfredsson, L, Bomfim, Il, Gomez-Cabrero, D, Hillert, J, Jagodic, M, Linden, M, Piehl, F, Jelcic, I, Martin, R, Sospedra, M, Baker, A, Ban, M, Hawkins, C, Hysi, P, Kalra, S, Karpe, F, Khadake, J, Lachance, G, Molyneux, P, Neville, M, Thorpe, J, Bradshaw, E, Caillier, Sj, Calabresi, P, Cree, Bac, Cross, A, Davis, M, de Bakker, Pwi, Delgado, S, Dembele, M, Edwards, K, Fitzgerald, K, Frohlich, Iy, Gourraud, Pa, Haines, Jl, Hakonarson, H, Kimbrough, D, Isobe, N, Konidari, I, Lathi, E, Lee, Mh, Li, T, An, D, Zimmer, A, Madireddy, L, Manrique, Cp, Mitrovic, M, Olah, M, Patrick, E, Pericak-Vance, Ma, Piccio, L, Schaefer, C, Weiner, H, Lage, K, Scott, Rj, Lechner-Scott, J, Leal, R, Moscato, P, Booth, Dr, Stewart, Gj, Vucic, S, Pame, G, Bametto, M, Mason, D, Griffiths, L, Broadley, S, Tajouri, L, Baxter, A, Slee, M, Taylor, Bv, Charlesworth, J, Kilpatrick, Tj, Rubio, J, Jokubaitis, V, Wiley, J, Butzkueven, H, Leslie, S, Motyer, A, Stankovich, J, Carroll, Wm, Kermode, Ag, Edrin, M, Barclay, M, Peyrin-Biroulet, L, Chamaillard, M, Colombe, Jf, Cottone, M, Croft, A, D'Inca, R, Halfvarson, J, Hanigan, K, Henderson, P, Hugot, Jp, Karban, A, Kennedy, Na, Khan, Ma, Lemann, M, Levine, A, Massey, D, Milla, M, Motoey, Gw, Ng, Sme, Oikonomnou, J, Peeters, H, Proctor, Dd, Rahier, Jf, Roberts, R, Rutgeerts, P, Seibold, F, Stronati, L, Taylor, Km, Torkvist, L, Ublick, K, Van Limbergen, J, Van Gossum, A, Vatn, Mh, Zhang, H, Zhang, W, Donnelly, P, Barroso, I, Blackwe, Jm, Bramon, E, Brown, Ma, Casas, Jp, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, H, Mathew, Cg, Palmer, Cna, Plomin, R, Rautanen, A, Sawcer, Sj, Trembath, Rc, Viswanathan, Ac, Wood, Nw, Spencer, Cca, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Sul, Z, Vukcevic, Da, Langford, C, Hunt, Se, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, Sj, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, Mccann, Ot, Liddle, J, Potter, Sc, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Compston, A, Hafler, D, Harbo, Hf, Hauser, Sl, Stewart, G, D'Alfonso, S, Hadjigeorgiou, G, Taylor, B, Barcellos, Lf, Booth, D, Hintzen, R, Kockum, I, Martinelli-Boneschi, F, Mccauley, Jl, Oksenberg, Jr, Oturai, A, Sawcer, S, Ivinson, Aj, Olsson, T, De Jager, Pl, Neurology, and Immunology
Subjects: 0301 basic medicine, Multiple Sclerosis, Quantitative Trait Loci, Inheritance Patterns, Cell Cycle Proteins, Genome-wide association study, Biology, Major histocompatibility complex, Polymorphism, Single Nucleotide, Major Histocompatibility Complex, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, Immune system, Gene Frequency, Autoimmune Process, medicine, Humans, RNA-Seq, X chromosome, Genetics, Chromosomes, Human, X, Multidisciplinary, Microglia, Multiple sclerosis, GTPase-Activating Proteins, Chromosome Mapping, Genomics, medicine.disease, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, Genetic Loci, Case-Control Studies, biology.protein, Genome-Wide Association Study, 030217 neurology & neurosurgery
Abstract: Genetic roots of multiple sclerosis The genetics underlying who develops multiple sclerosis (MS) have been difficult to work out. Examining more than 47,000 cases and 68,000 controls with multiple genome-wide association studies, the International Multiple Sclerosis Genetics Consortium identified more than 200 risk loci in MS (see the Perspective by Briggs). Focusing on the best candidate genes, including a model of the major histocompatibility complex region, the authors identified statistically independent effects at the genome level. Gene expression studies detected that every major immune cell type is enriched for MS susceptibility genes and that MS risk variants are enriched in brain-resident immune cells, especially microglia. Up to 48% of the genetic contribution of MS can be explained through this analysis. Science , this issue p. eaav7188 ; see also p. 1383
Published: 2019

3. Azathioprine for prevention of clinical recurrence in Crohn's disease patients with severe endoscopic recurrence: an IG-IBD randomized double-blind trial

Author: Orlando, A, Mocciaro, F, Ventimiglia, M, Renna, S, Rispo, A, Scribano, M, Testa, A, Aratari, A, Bossa, F, Angelucci, E, Onali, S, Cappello, M, Giunta, M, Scimeca, D, Macaluso, F, Castiglione, F, Papi, C, Annese, V, Biancone, L, Kohn, A, Di Mitri, R, and Cottone, M
Subjects: Settore MED/12, Crohn Disease, Double-Blind Method, Recurrence, Azathioprine, Humans, Mesalamine
Abstract: The recurrence of Crohn's Disease after ileo-colonic resection is a crucial issue. Severe endoscopic lesions increase the risk of developing early symptoms. Prevention and treatment of post-operative Endoscopic Recurrence (ER) have been studied with conflicting results. We compare effi cacy of azathioprine (AZA) vs. high-dose 5-aminosalicylic acid (5-ASA) in preventing clinical recurrence and treating severe post-operative ER.We performed a 1-year multicenter randomized double-blind double-dummy trial. Primary end-points were endoscopic improvement and therapeutic failure (clinical recurrence or drug discontinuation due to lack of efficacy or adverse events) 12 months after randomization. We also performed a post-trial analysis on symptomatic and endoscopic outcomes 10 years after the beginning of the trial, with a median follow-up of 60 months.Therapeutic failure occurred in 8 patients (17.4%) within 12 months from randomization, with no significant difference between patients treated with 5-ASA (20.8%, 5 patients) and those with AZA (13.6%, 3 patients). Therapeutic failure was due to clinical recurrence in the 5-ASA group and to adverse events in the AZA group. Endoscopic improvement at 12 months was observed in 8 patients, 2 (11.8%) in the 5-ASA group and 6 (30%) in the AZA group. No serious adverse event was recorded. At the post-trial analysis (median follow-up 60 months), 47.8% (22/46) of patients experienced clinical recurrence: 54.2% (13/24) in the 5-ASA group and 40.9% (9/22) in the AZA group, p=0.546. Patients treated with AZA had lower risk of drug escalation. Clinical recurrence was associated with smoking (p=0.031) and previous surgery (p=0.003).Our trial indicates that there was no difference in terms of treatment failure between 5-ASA and AZA in patients with severe ER. The main limit of AZA is its less favorable safety profile.
Published: 2020

4. CLINICAL COURSE OF SEVERE COLITIS: A COMPARISON BETWEEN CROHN'S DISEASE AND ULCERATIVE COLITIS

Author: Sinagra,E, Orlando,A, Scalisi,A, Mocciaro F, Criscuoli V, Oliva,L, Maisano,S, Giunta,M, La Seta, F, Solina G, Rizzo AG, Leone,A, Tomasello,G, Cappello,F, Cottone,M, Sinagra,E, Orlando,A, Scalisi,A, Mocciaro,F, Criscuoli,V, Oliva,L, Maisano,S, Giunta,M, La Seta, F, Solina,G, Rizzo,AG, Leone,A, Tomasello,G, Cappello,F, and Cottone,M
Subjects: Adult, Male, Settore MED/18 - Chirurgia Generale, Settore MED/12 - Gastroenterologia, Crohn Disease, Humans, Colitis, Ulcerative, Female, colectomy, Crohn's diesease, ulcerative colitis, Middle Aged
Abstract: Few data are available about the clinical course of severe colonic Crohns disease (CD). The aim of this study is to describe the clinical course of severe Crohns colitis in a patient cohort with isolated colonic or ileocolonic CD, and to compare it with the clinical course of patients with severe ulcerative colitis (UC). Thirty-four patients with severe Crohns colitis were prospectively identified in our cohort of 593 consecutive hospitalized patients through evaluation of the Crohns Disease Activity Index score and the Harvey-Bradshaw Index. One hundred sixty-nine patients with severe ulcerative colitis were prospectively identified in our cohort of 449 consecutive hospitalized patients through evaluation of the Lichtiger score and the Truelove-Witts score. We evaluated the following data/aspects: response to steroids, response to biologics, colectomy rate in acute, colectomy rate during follow-up, megacolon and cytomegalovirus infection rate. We did not find significant differences in the response to steroids and to biologics, in the percentage of cytomegalovirus infection and of megacolon, while the rate of colectomy in acute turned out to be greater in patients with severe Crohns colitis compared to patients with severe UC, and this difference appeared to be the limit of statistical significance (Chi-squared 3.31, p = 0.069, OR 0.39); the difference between the colectomy rates at the end of the follow-up was also not significant. In the whole population, by univariate analysis, according to the linear regression model, a young age at diagnosis is associated with a higher overall colectomy rate (p = 0.024) and a higher elective colectomy rate (p = 0.022), but not with a higher acute colectomy rate, and an elevated ESR is correlated with a higher overall colectomy rate (p = 0.014) and a higher acute colectomy rate (p = 0.032), but not with a higher elective colectomy rate. This correlation was significant on multivariate analysis. The overall rate of colectomy in the cohort of patients with severe Crohns colitis was greater than that of the cohort of patients with severe UC, but this figure is not supported by a different clinical response to steroid therapy or rescue therapy with biologics. The clinical course of severe Crohns colitis requires to be clarified by prospective studies that include a larger number of patients in this subgroup of disease.
Published: 2018

5. Sicilian Network for Inflammatory Bowel Disease (SN-IBD). A propensity score-matched comparison of infliximab and adalimumab in naïve and non-naïve patients with Crohn’s disease

Author: Orlando, A., Macaluso, F., Fries, W., Privitera, A., Cappello, M., Siringo, S., Inserra, G., Magnano, A., Di Mitri, R., Belluardo, N., Scarpulla, G., Magrì, G., Trovatello, N., Carroccio, A., Genova, S., Bertolami, C., Vassallo, R., Ventimiglia, M., Renna, S., Orlando, R., Rizzuto, G., Cottone, M., and Orlando A., Macaluso F.S., Fries W., Privitera A.C., Cappello M., Siringo S., Inserra G., Magnano A., Di Mitri R., Belluardo N., Scarpulla G., Magrì G., Trovatello N., Carroccio A., Genova S., Bertolami C., Vassallo R., Ventimiglia M., Renna S., Orlando R., Rizzuto G, Cottone M.
Subjects: Sicilian Network, Inflammatory Bowel Disease, SN-IBD, Settore MED/09 - Medicina Interna
Abstract: Background: In the absence of head-to-head trials, there is an unmeet need to better understand the relative effectiveness of different biologics in inflammatory bowel disease (IBD). The Sicilian Network for Inflammatory Bowel Disease (SN-IBD) is a group composed by all Sicilian centres which continuously enter in a web-based software all clinical data of IBD patients treated with biologics. Methods: Data of all incident Crohn’s disease (CD) patients treated with infliximab (IFX) and adalimumab (ADA) from January 2013 to April 2017 were extracted from the cohort of SN-IBD. Patients were divided in biologic-naïve and non-naïve, and the two groups were analysed singularly. We used a one-to-two propensity score matching (1 IFX: 2 ADA) accounting for the main baseline characteristics in naïve patients, and a one-to-one propensity score matching (1 IFX: 1 ADA) in non-naïve. Results: Seven hundred and forty-seven naïve and 188 non-naïve patients were included. After propensity score matching, 453 naïve (IFX: 151; ADA: 302) and 100 non-naïve patients (total treatments: 122; IFX: 61; ADA: 61) were analysed. Among naïve patients, the rates of response/remission at 12 weeks for IFX and ADA were 80.1% and 81.1%,, respectively (adjusted OR 0.97, p = 0.923); over a median follow-up of 11.8 months, the rates of response/remission for IFX and ADA were 70.2% and 66.2%, respectively, without significant differences (adjusted OR 1.14, p = 0.401). Among non-naïve patients, the rates of response/remission at 12 weeks for IFX and ADA were 68.9% and 60.7%, respectively (adjusted OR 1.54, p = 0.320); over a median follow-up of 8.9 months, the rates of response/remission for IFX and ADA were 57.4% and 54.1%, respectively, without significant differences (adjusted OR 1.96, p = 0.297). Cox regression analysis showed no differences in risk of treatment failure between ADA and IFX, neither in naïve (adjusted HR 1.23, p = 0.381) nor in non-naïve patients (adjusted HR 1.23, p = 0.488). At multivariable conditional logistic regression analysis of naïve CD patients, upper GI involvement (OR 0.18, p = 0.038), previous surgery (OR 0.24, p = 0.003), and older age (OR 0.97, p = 0.036) were associated with lower clinical benefit at 12 weeks, while previous surgery was the only independent predictor of treatment failure at the end of follow-up (HR 2.13, p = 0.03). Mixed effect Cox analysis showed that non-naïve patients experiencing more than one previous line of treatment with biologics have a significant higher risk of treatment failure compared with those previously treated with one biologic only (HR 2.57, p = 0.002) Conclusions: In this large, propensity score matched, real-life, multicentre, cohort study of CD patients, there was no significant difference in the effectiveness of ADA and IFX. Both drugs showed a good efficacy.
Published: 2018

6. The Sicilian network of biological therapy in inflammatory bowel disease: preliminary data on efficacy

Author: Orlando A., Macaluso F. S., Fries W., Privitera A. C., Cappello M., Siringo S., Inserra G., Magnano A., Di Mitri R., Belluardo N., Scarpulla G., Magrì G., Trovatello N., Carroccio A., Genova S., Calandruccio G., Vassallo R., Romano C., Pellegrino S., Citrano M., Accomando S., Ventimiglia M., Renna S., Orlando R., Rizzuto G., Vinci E., Cottone M., and Orlando A., Macaluso F.S., Fries W., Privitera A.C., Cappello M., Siringo S., Inserra G., Magnano A., Di Mitri R., Belluardo N., Scarpulla G., Magrì G., Trovatello N., Carroccio A., Genova S., Calandruccio G., Vassallo R., Romano C., Pellegrino S., Citrano M., Accomando S., Ventimiglia M., Renna S., Orlando R., Rizzuto G., Vinci E., Cottone M.
Subjects: Settore MED/09 - Medicina Interna, biological therapy, inflammatory bowel disease, Sicilian network
Abstract: Background: The monitoring of appropriateness, costs, and clinical outcomes of biological therapy in inflammatory bowel disease (IBD) is a relevant need. We aimed to evaluate all these issues in Sicily through a web based network of all prescribing centers. Methods: From January 2013, all IBD patients starting a biological agent (incident cases) or already on treatment (prevalent cases) were entered in a web based software. Herein we report data of incident cases about the efficacy of biological therapy after twelve weeks and one year of treatment. Results: From January 2013 to October 2016, 1475 patients were included. Incident cases were 1090. Considering that 16% of patients experienced more than one line of therapy, a total of 1351 treatments were reported. Adalimumab was used in 622 Crohn’s disease (CD) patients and in 83 ulcerative colitis (UC)/unclassified colitis patients. Infliximab was prescribed in 275 CD patients (80 biosimilars) and in 279 UC patients (50 biosimilars). Golimumab was used in 32 UC patients, while vedolizumab in 40 CD patients and in 20 UC patients. In patients with CD, after twelve weeks and one year of therapy, the rates of remission with adalimumab were 43.9% and 60.2%, respectively, and the rates of response 40.9% and 25.8%, while the rates of remission with infliximab originator were 46.2% and 50.0%, and the rates of response 40.9% and 32.9% (biosimilars: remission 31.0% and response 51.7% after 12 weeks; remission 45.5% and response 36.4% after one year). In UC, after twelve weeks and one year of therapy, the rates of remission with adalimumab were 43.3% and 57.1%, respectively, and the rates of response 36.7% and 19.0%; the rates of remission with infliximab originator were 41.6% and 48.4%, and the rates of response 35.6% and 32.3% (biosimilars: remission 30.0% and response 63.3% after 12 weeks; remission 20.0% and response 40.0% after one year); the rate of remission after 12 weeks of therapy with Golimumab was 22.2%, and the rate of response was 33.3%. After twelve weeks of therapy with Vedolizumab, 28.6% of CD patients were in remission and 32.0% had a response, while the rates of remission and response in UC patients were 33.3% and 22.0%, respectively. Multivariable logistic regression analysis showed that age >50 years was independently linked to lower rates of remission/response at 12 weeks in CD patients (OR 0.613, p=0.046). Conclusions: In one of the largest series of IBD patients on biological therapy reported to date, CD patients older than 50 years showed a higher rate of non response at 12 weeks of treatment. Efficacy of biosimilars was overall comparable to that reported for infliximab originator.
Published: 2017

7. The sicilian network of biological therapy in inflammatory bowel disease: preliminary data from a prospective study on efficacy and safety

Author: Orlando A., Fries W., Privitera A., Cappello M., Siringo S., Inserra G., Magnano A., Di Mitri R., Belluardo N., Scarpulla G., Magrì G., Trovatello A., Carroccio A., Genova S., Calandruccio G., Vassallo R., Romano C, Magazzù G., Citrano M., Accomando S., Ventimiglia M., Renna S., Orlando R., Rizzuto G., Vinci E., Macaluso F. S., Cottone M., and Orlando A., Fries W., Privitera A., Cappello M., Siringo S., Inserra G., Magnano A., Di Mitri R., Belluardo N., Scarpulla G., Magrì G., Trovatello A., Carroccio A., Genova S., Calandruccio G., Vassallo R., Romano C, Magazzù G., Citrano M., Accomando S., Ventimiglia M., Renna S., Orlando R., Rizzuto G., Vinci E., Macaluso F.S., Cottone M.
Subjects: Settore MED/09 - Medicina Interna, biological therapy, inflammatory bowel disease, Sicilian network
Abstract: Background and aim: The monitoring of appropriateness and costs of biological therapy in Inflammatory bowel disease (IBD) is a relevant need. We aimed to evaluate appropriateness, efficacy and safety of biological therapy in IBD in Sicily through a web based network of prescribing centers. Material and methods: The Sicilian network for the monitoring of biological therapy in IBD is composed by a super Hub coordinator center and five Hub plus ten Spoke centers. From January 2013 all IBD patients starting a biological agent (incident cases) or already on treatment (prevalent cases) were entered in a web based software. Herein we report data on remission and response after twelve weeks of biological therapy, and side effects until the end of follow-up of incident cases. Results: From January 2013 to June 2016, 1475 patients were included. Complete data were available in 1338 cases (983 with Crohn’s disease [CD], 345 with ulcerative colitis [UC], and 10 with unclassified colitis). Incident cases were 956 (673 CD, 274 UC, and 9 unclassified colitis). Considering that 12% of patients experienced more than one line of therapy, a total of 1098 treatments were reported. Adalimumab was used in 543 CD patients, in 69 UC patients, and in 4 with unclassified colitis. Infliximab was prescribed in 221 CD patients (64 biosimilars), in 226 UC patients (41 biosimilars), and in 5 patients with unclassified colitis. Golimumab was prebscribed in 29 UC patients, and in 1 patient with unclassified colitis. After twelve weeks, the rate of response with Adalimumab was 46% and the rate of remission was 38% in CD, while the rate of response with Infliximab originator was 48% and the rate of remission 42% (biosimilars: 37% and 50%, respectively). In UC the rate of response with Adalimumab was 46% and the rate of remission was 38%, the rate of response with Infliximab was 41% and the rate of remission 45% (biosimilars: 25% and 64%, respectively), while the rate of response with Golimumab was 47% and the rate of remission was 27%. Overall, the rate of side effects was 17% (9.2% with Adalimumab, 20% with Infliximab originator, 15% with biosimilars, and 17% with Golimumab). Conclusions: In one of the largest series of IBD patients on biological therapy reported to date, the rates of remission and response after twelve weeks were comparable to data from literature, and similar between the different biologics. Efficacy and safety of biosimilars were analogous to those reported for infliximab originator.
Published: 2017

8. A real life comparison of the efficacy of adalimumab versus golimumab in moderate-to-severe ulcerative colitis. A multicenter experience from the sicilian network for inflammatory bowel disease (SN-IBD)

Author: Renna, S., Mocciaro, F., Ventimiglia, M., Macaluso, F., Orlando, R., Billeci, M., Cappello, M., Mendolaro, M., Privitera, A., Ferracane, C., Fries, W., Pisana, V., Magnano, A., Pluchino, D., Inserra, G., Scarpulla, G., Garufi, S., Carroccio, A., Siringo, S., Dimitri, R., Cottone, M., Orlando, A., and Renna S., Mocciaro F., Ventimiglia M., Macaluso F.S., Orlando R., Billeci M., Cappello M., Mendolaro M., Privitera A.C., Ferracane C., Fries W., Pisana V., Magnano A., Pluchino D., Inserra G., Scarpulla G., Garufi S., Carroccio A., Siringo S., Dimitri R., Cottone M., Orlando A.
Subjects: adalimumab, golimumab, ulcerative colitis, sicilian network, inflammatory bowel disease, SN-IBD, Settore MED/09 - Medicina Interna, ulcerative coliti
Abstract: Introduction: Adalimumab (ADA) and golimumab (GOL) are effective in the induction and maintenance treatment of moderate-to-severe ulcerative colitis (UC). No comparable data between the 2 drugs are available up to now. Aims & Methods: We reported the Sicilian Network experience on the comparative efficacy of ADA and GOL in patients (pts) with moderate-to-severe UC. From June 2015 until April 2017, 197 consecutive pts with moderate to severe UC were treated with ADA or GOL. The efficacy was evaluated at 8 week and at the end of the follow up considering ‘‘clinical response’’ (reduction of at least 2 points of Partial Mayo Score with concomitant steroid reduction or discontinuation) and “clinical remission” (Partial Mayo Score 52 without steroids). The presence of clinical response or clinical remission was defined as “clinical benefit”. Endoscopic Mayo Score was evaluated at the end of the follow up in pts who underwent colonoscopy. Results: 118 pts were treated with ADA and 79 with GOL for a median follow up of 40.21 [20.32, 69.14] weeks for ADA and 34.00 [17.43, 54.79] weeks for GOL (p ¼ 0.08). Eighty-eight pts were naive to anti-TNF (59 ADA, 29 GOL, p = 0.09). No difference in Mayo Score value was observed between the 2 groups at the time of first drug injection (p = 0.92). After 8 weeks clinical benefit was achieved in 93/118 (78.8%) pts treated with ADA and 50/79 (63.3%) pts treated with GOL (p = 0.026). Clinical remission was achieved in 48/118 (40.7%) pts treated with ADA and 20/79 (25.3%) pts treated with GOL (p = 0.038). At the end of the follow up clinical benefit was achieved in 79/118 (66.9%) pts treated with ADA and 37/79 (46.8%) pts treated with GOL (p = 0.008). Clinical remission was achieved in 50/118 (42.4%) pts treated with ADA and 23/79 (29.1%) pts treated with GOL (p = 0.082). No difference was observed in clinical outcomes at 8 weeks and at the end of the follow up between naive and non naive pts (p = 0.187). At the end of the follow up the median Endoscopic Mayo Score was 3.00 [0.00, 5.00] in pts treated with ADA and 4.00 [1.00, 7.00] in pts treated with GOL (p = 0.025). Univariable analysis revealed that age4 40 years at the time of first drug injection and age5 40 years at the diagnosis were associated with higher remission rate in pts treated with ADA respect to pts treated with GOL at 8 weeks and at the end of the follow up (p = 0.034 and p = 0.016 respectively). Disease duration 45 years was associated with a higher remission rate in pts treated with ADA respect to pts treated with GOL at 8 weeks and at the end of the follow up (p = 0.017). Conclusion: This is the first study where the comparable efficacy of ADA and GOL was evaluated. These real life data confirmed the efficacy of subcutaneous anti-TNF in the treatment of moderate to severe UC. ADA resulted to be more effective than GOL in inducing and maintaining clinical benefit. Larger prospective studies with longer follow up are warranted to confirm this data
Published: 2017

9. The sicilian network for inflammatory bowel disease (SN-IBD): preliminary data on efficacy of biological therapy

Author: Orlando, A., Macaluso, F., Fries, W., Privitera, A., Cappello, M., Siringo, S., Inserra, G., Magnano, A., Di Mitri, R., Belluardo, N., Scarpulla, G., Magrì, G., Trovatello, A., Carroccio, A., Genova, S., Bertolami, C., Vassallo, R., Romano, C., Pellegrino, S., Citrano, M., Accomando, S., Ventimiglia, M., Renna, S., Orlando, R., Rizzuto, G., Vinci, E., Cottone, M., and Orlando A., Macaluso F.S., Fries W., Privitera A.C., Cappello M., Siringo S., Inserra G., Magnano A., Di Mitri R., Belluardo N., Scarpulla G., Magrì G., Trovatello A., Carroccio A., Genova S., Bertolami C., Vassallo R., Romano C., Pellegrino S., Citrano M., Accomando S., Ventimiglia M., Renna S., Orlando R., Rizzuto G., Vinci E., Cottone M.
Subjects: Settore MED/09 - Medicina Interna, Sicilian network, inflammatory bowel disease, SN-IBD
Abstract: Introduction: The monitoring of appropriateness, costs, and clinical outcomes of biological therapy in inflammatory bowel disease (IBD) is a relevant need. Aims & Methods: We aimed to evaluate all these issues in Sicily through a webbased network of all prescribing centers. The Sicilian Network for Inflammatory Bowel Disease (SN-IBD) is composed by a super Hub coordinator centre and five Hub plus ten Spoke centres. From January 2013, all IBD patients starting a biological agent (incident cases) or already on treatment (prevalent cases) were entered in a web based software. Herein we report data of incident cases about the efficacy of biological therapy after twelve weeks and one year of treatment. As clinical end-point, we set remission (corresponding to a Mayo Partial Score 52 for UC, and to a Harvey-Bradshaw Index 55 for CD), and response (reduction of Harvey-Bradshaw Index
Published: 2017

10. The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

Author: Ashley Beecham, David A. Hafler, Colombe J, Ublick K, Stephen Sawcer, Marcus C. S. Lee, Adam Santaniello, An Goris, Frank Seibold, Xavier Montalban, G. Comi, Christiane Gasperi, Sandra D'Alfonso, Federica Esposito, Laurent Peyrin-Biroulet, Frauke Zipp, Ioanna Konidari, Elisabeth Gulowsen Celius, Achim Berthele, Amoroso A, Rogier Q. Hintzen, Johan Van Limbergen, Marieme Dembele, Fredrik Karpe, Zhang W, Robbins A, Moiola L, Annette Bang Oturai, Cristin McCabe, Filippo Martinelli-Boneschi, M Lindén, Keith R Edwards, Hanne F. Harbo, Zuccalà M, Marc Lémann, Felix Luessi, Noriko Isobe, Nadia Barizzone, Renata D'Incà, Croft A, Ioannis S. Vlachos, Frohlich I, Martinelli, Daniela Galimberti, Efthimios Dardiotis, Lisa F. Barcellos, Brendan T. Keenan, Maja Jagodic, Ferdinando Clarelli, Bénédicte Dubois, Nicholas A. Kennedy, Lohith Madireddy, Grant W. Montgomery, Tommy Olsson, Phil De Jager, Lo A, Peter A. Calabresi, Brandes A, Chris Cotsapas, Bakker Pd, Steffan D. Bos, Christina M. Lill, Karban A, Thoerner Lw, Tojo James, Wong G, Harald Peeters, M.-M. Hoshi, Roberts R, Fredrik Piehl, Lars Alfredsson, Giorgos M. Hadjigeorgiou, Bertrand Fontaine, Melissa Sorosina, Benedetti M, Maria Ban, Jorge R. Oksenberg, Howard L. Weiner, Ingrid Kockum, Mireia Sospedra, Taylor Km, Henrik Ullum, Izaura Lima Bomfim, Stronati L, Molyneux P, Replogle J, Stacy J. Caillier, Zhang H, Till F. M. Andlauer, Margaret A. Pericak-Vance, Jan Hillert, Luisa Bernardinelli, Taibo Li, Helle Bach Søndergaard, Ilijas Jelcic, Nikolaos A. Patsopoulos, Silvia Delgado, Cathy Schaefer, Thomas Korn, Laura Piccio, Mark Mühlau, Deborah D. Proctor, B. Hemmer, Elizabeth M. Bradshaw, Hysi P, Megan C Neville, Mary F. Davis, Dorlan J. Kimbrough, Jyoti Khadake, Jean-Pierre Hugot, David Gomez-Cabrero, Murray L. Barclay, Anne H. Cross, Kasper Lage, Stephen L. Hauser, A Compston, Zimmer A, Ivinson A, Anne Spurkland, Jonas Halfvarson, Charles C. White, Biberacher, Zarzycki O, Kathryn C. Fitzgerald, Finn Sellebjerg, Ellis Patrick, Andrea Zauli, Bruce V. Taylor, Maurizio Leone, Genevieve Lachance, Marta Olah, B. Cree, Manuel Comabella, Arie Levine, Domizia Vecchio, Mathias Chamaillard, Mark Lathrop, Clara Guaschino, Roland Martin, Hanigan K, Pierre-Antoine F. D. Gourraud, Maria Cimpean, Jonathan L. Haines, Dorothea Buck, Marco Salvetti, Per Soelberg Sørensen, Noel Lg, Mitja Mitrovic, Graeme J. Stewart, Benjamin Knier, Ellen Lathi, Cottone M, Laura Ferrè, Winn P, Duijn Cv, Monica Milla, Tune H. Pers, I. Oikonomou, An D, David R. Booth, Rebeix Ic, Clara P. Manrique, Massey D, Evelyn Ng Sm, Törkvist L, Daniele Cusi, Shoostari P, Vatn Mh, Paola Cavalla, Silvia Santoro, Gossum Av, Seema Kalra, Paul Rutgeerts, Clive Hawkins, Sandra Vukusik, Khan Ma, Hakon Hakonarson, Paul Henderson, Christiane Graetz, Julia Y Mescheriakova, Jean-François Rahier, Panteliadis I, Cristina Agliardi, Grummel, Jacob L. McCauley, Amie Baker, Janna Saarela, Sergio E. Baranzini, J W Thorpe, and Damotte
Subjects: 0303 health sciences, Microglia, Multiple sclerosis, Central nervous system, Biology, medicine.disease, Major histocompatibility complex, 03 medical and health sciences, 0302 clinical medicine, Immune system, medicine.anatomical_structure, Autoimmune Process, Immunology, medicine, biology.protein, Gene, 030217 neurology & neurosurgery, X chromosome, 030304 developmental biology
Abstract: We assembled and analyzed genetic data of 47,351 multiple sclerosis (MS) subjects and 68,284 control subjects and establish a reference map of the genetic architecture of MS that includes 200 autosomal susceptibility variants outside the major histocompatibility complex (MHC), one chromosome X variant, and 32 independent associations within the extended MHC. We used an ensemble of methods to prioritize up to 551 potentially associated MS susceptibility genes, that implicate multiple innate and adaptive pathways distributed across the cellular components of the immune system. Using expression profiles from purified human microglia, we do find enrichment for MS genes in these brain - resident immune cells. Thus, while MS is most likely initially triggered by perturbation of peripheral immune responses the functional responses of microglia and other brain cells are also altered and may have a role in targeting an autoimmune process to the central nervous system.One Sentence Summary:We report a detailed genetic and genomic map of multiple sclerosis, and describe the role of putatively affected genes in the peripheral immune system and brain resident microglia.
Published: 2017

11. Overexpression of interleukin-23, but not interleukin-17, as an immunologic signature of subclinical intestinal inflammation in ankylosing spondylitis

Author: Ciccia, F., Bombardieri, M., Principato, A., Giardina, A., Tripodo, C., Porcasi, R., Peralta, S., Franco, V., Giardina, E., Craxi, A., Pitzalis, C., Triolo, G., Cottone, M., Ciccia, F, Bombardieri, M, Principato, A, Giardina, A, Tripodo, C, Porcasi, R, Peralta, S, Franco, V, Giardina, E, Craxi', A, Pitzalis, C, Triolo, G, Craxi, A, and Cottone, M
Subjects: Adult, Male, Paneth Cells, chronic inflammation, Pathology, medicine.medical_specialty, Immunology, Gene Expression, Inflammation, Monocytes, Th2 Cells, Rheumatology, Intestinal mucosa, Ileum, ankylosing spondylitis, Prevalence, medicine, Interleukin 23, Humans, Immunology and Allergy, interleukin-23 (IL-23), Th 17, Crohn's disease, Spondylitis, Ankylosing, Pharmacology (medical), Ileitis, RNA, Messenger, Intestinal Mucosa, Spondylitis, Subclinical infection, Ankylosing spondylitis, business.industry, Interleukin-17, Middle Aged, Th1 Cells, medicine.disease, Up-Regulation, STAT1 Transcription Factor, Interleukin-23 Subunit p19, Female, Interleukin 17, medicine.symptom, business
Abstract: Objective Subclinical gut inflammation is common in spondylarthritis, but the immunologic abnormalities underlying this process are undefined. Perturbation of the interleukin-23 (IL-23)/Th17 axis has emerged as a fundamental trigger of chronic inflammation. This study was undertaken to investigate the expression and tissue distribution of IL-23/Th17–related molecules in Crohn's disease (CD) and in subclinical gut inflammation in ankylosing spondylitis (AS). Methods Quantitative gene expression analysis of Th1/Th2 and IL-23/Th17 responses was performed in intestinal biopsy samples obtained from 12 patients with CD, 15 patients with AS, and 13 controls. IL-23 tissue distribution and identification of IL-23–producing cells were evaluated by immunohistochemistry. Results We demonstrated a strong and significant up-regulation of IL-23p19 transcripts in the terminal ileum in patients with AS and patients with CD. IL-23 was abundantly produced by infiltrating monocyte-like cells in inflamed mucosa from AS and CD patients. Notably, we also identified Paneth cells as a major source of IL-23 in patients with AS, patients with CD, and normal controls. Unlike CD, in AS patients, IL-23 was not associated with up-regulation of IL-17 and the IL-17–inducing cytokines IL-6 and IL-1β. Finally, while the Th1-related cytokines interferon-γ, IL-12p35, and IL-27p28 were overexpressed only in CD patients, IL-4, IL-5, and STAT-6 were also significantly increased in AS patients. Conclusion Our findings indicate that overexpression of IL-23, but not IL-17, is a pivotal feature of subclinical gut inflammation in AS. Identification of resident Paneth cells as a pivotal source of IL-23 in physiologic and pathologic conditions strongly suggests that IL-23 is a master regulator of gut mucosal immunity, providing a pathophysiologic significance to the reported association between IL-23 receptor polymorphisms and intestinal inflammation.
Published: 2009
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12. Burden of Crohn’s disease: economics and quality of life aspects in Italy

Author: Benedini V, Caporaso N, Corazza GR, Rossi Z, Fornaciari G, Cottone M, Frosini G, Caruggi M, Ottolini C, and Colombo GL
Subjects: lcsh:R5-920, lcsh:Therapeutics. Pharmacology, lcsh:RM1-950, lcsh:Medicine (General), health care economics and organizations
Abstract: Viviano Benedini,1 Nicola Caporaso,2 Gino Roberto Corazza,3 Zaccaria Rossi,4 Giovanni Fornaciari,5 Mario Cottone,6 Giorgio Frosini,7 Mauro Caruggi,8 Chiara Ottolini,8 Giorgio L Colombo9,10 On behalf of the COSMO Study Group1Department of Gastroenterology, AO Carlo Poma, Mantova; 2Department of Gastroenterology, University of Naples, Federico II, Naples; 3IRCCS Policlinico San Matteo, Pavia; 4Department of Gastroenterology, Ospedale Regina Apostolorum, Albano Laziale, Rome; 5Department of Gastroenterology, Arcispedale S Maria Nuova, Reggio Emilia; 6Medical Division, Azienda Ospedaliera Cervello, Palermo; 7Department of Gastroenterology, Policlinico Universitario Senese, Siena; 8Hospital S Antonio Abate, Gallarate, Varese, 9University of Pavia; School of Pharmacy, Pavia, Lombardy; 10Studi Analisi Valutazioni Economiche (SAVE), Milan, ItalyBackground: This was a prospective observational study designed to evaluate direct and indirect costs and quality of life for patients with Crohn’s disease in Italy from the perspectives of the National Health System and of society.Methods: A total of 162 male and female subjects aged 18–70 years with Crohn’s disease in the active phase and a Crohn’s Disease Activity Index score ≥150 were included in the study. Subjects were recruited from 25 Italian centers on a consecutive basis. The study consisted of four visits undertaken every 6 months with a follow-up period of 18 months. The study started on September 1, 2006 and was completed on April 12, 2010. Multivariate analyses were carried out on demographic characteristics, treatment costs based on the prescribed daily dose, resource use and other cost parameters, and changes in quality of life using the EQ5D questionnaire.Results: Cost of illness per subject with Crohn’s disease in Italy was estimated to be €15,521 per year, with direct costs representing 76% of total costs. Nonhealth care costs and loss of productivity accounted for 24% of total costs. Societal costs during the first months of enrolment were higher compared with costs in the final months of the study. Quality of life measured by the EQ-5D was 0.558 initially and then increased to 0.739, with a mean value of 0.677 during the enrolment period. The cost of illness was not correlated with age or gender.Conclusion: The cost of illness was correlated with quality of life; Crohn’s disease had a negative impact on subjects’ quality of life, and higher costs corresponded to a lower quality of life as measured with the EQ5D. Drug treatment may improve quality of life and reduce hospitalization costs. Our results appear to be in line with the results of other international cost-of-illness studies.Keywords: Crohn’s disease, quality of life, EuroQol, EQ5D, cost-of-illness, cost analysis, economic evaluation
Published: 2012

13. Thomas Mann e il mare: tra mito e scrittura

Author: Cottone, M, Di Venuta, M, Meier, A, Parisi, D, Sytcheva, S, Schirò, C, Uzhankov, A. N., DI MAIO, Davide, Cottone, M., Cottone, M, Di Maio, D, Di Venuta, M, Meier, A, Parisi, D, Sytcheva, S, Schirò, C, and Uzhankov, A N
Subjects: Settore L-LIN/13 - Letteratura Tedesca, Letteratura tedesca
Published: 2008

14. Infliximab to treat Crohn’s disease: an update

Author: Criscuoli V and Cottone M
Subjects: lcsh:Diseases of the digestive system. Gastroenterology, lcsh:RC799-869
Abstract: M Cottone, V CriscuoliBiomedical Department of Internal and Specialist Medicine, Division of Medicine, Villa Sofia-V Cervello Hospital, Palermo University, Palermo, ItalyAbstract: Crohn’s disease (CD) is a chronic inflammatory disease of the gastrointestinal tract characterized by recurring flares followed by periods of inactive disease and remission. The etiology is unknown, although the common opinion is that the disease arises from a disordered immune response to the gut contents in genetically predisposed individuals. Infliximab (IFX), a chimeric immunoglobulin G1 monoclonal antibody to tumor necrosis factor, has dramatically changed the approach to managing patients with CD and improving their treatment, by achieving treatment goals, such as mucosal healing, and decreasing the need for hospitalizations and surgeries. This review provides an update on existing evidence for the use of IFX in CD, taking into account the safety profile in clinical practice and special situations such as pregnancy. Antitumor necrosis factor therapy has been evaluated as an induction and maintenance therapy in CD in several randomized controlled trials and meta-analyses, showing efficacy in both clinical settings. Early use of biologics may improve patient outcomes in active CD. However, a widespread use of a “top-down” approach in all CD patients cannot be recommended. Clinical factors at diagnosis may predict poor outcome in CD, and should be taken into account when determining the initial therapeutic approach.Keywords: Crohn’s disease, infliximab, adult
Published: 2011

15. The role of calprotectin in predicting endoscopic post-surgical recurrence in asymptomatic Crohn's disease: a comparison with ultrasound

Author: Orlando, A., Modesto, I., Castiglione, F., Scala, L., Daniela Scimeca, Rispo, A., Teresi, S., Mocciaro, F., Criscuoli, V., Marrone, C., Platania, P., Falco, T., Maisano, S., Nicoli, N., Cottone, M., ORLANDO A, MODESTOI, CASTIGLIONE F, SCALA L, SCIMECA D, RISPO A, TERESI S, MOCCIARO F, CRISCUOLI V, MARRONE C, PLATANIA P, DE FLACO T, MAISANO S, NICOLI N, COTTONE M, Orlando, A, Modesto, I, Castiglione, Fabiana, Scala, L, Scimeca, D, Rispo, A, Teresi, S, Mocciaro, F, Criscuoli, V, Marrone, C, Platania, P, DE FALCO, T, Maisano, S, Nicoli, N, and Cottone, M.
Published: 2006

16. Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Disease Study

Author: ANNESE V, PALMIERI O, LATIANO A, ARDIZZONE S, CASTIGLIONE F, COTTONE M, D'INCA R, PAPI C, RIEGLER G, VECCHI M, ANDRIULLI A, ITALIAN GROUP FOR INFLAMMATORY BOWEL DISEASE, GIONCHETTI, PAOLO, ANNESE V, PALMIERI O, LATIANO A, ARDIZZONE S, CASTIGLIONE F, COTTONE M, D'INCA R, GIONCHETTI P., PAPI C, RIEGLER G, VECCHI M, ANDRIULLI A, ITALIAN GROUP FOR INFLAMMATORY BOWEL DISEASE., Annese, V, Palmieri, O, Latiano, A, Ardizzone, S, Castiglione, F, Cottone, M, D'Incà, R, Gionchetti, P, Papi, C, Riegler, Gabriele, Vecchi, M, Andriulli, A, ITALIAN GROUP FOR INFLAMMATORY BOWEL, Disease, V., Annese, O., Palmieri, A., Latiano, S., Ardizzone, Castiglione, Fabiana, M., Cottone, R., Dinc, P., Gionchetti, C., Papi, G., Riegler, M., Vecchi, A., Andriulli, and GIONCHETTI P
Subjects: Adult, Male, medicine.medical_specialty, Pathology, Genotype, Nod2 Signaling Adaptor Protein, Disease, Inflammatory bowel disease, Gastroenterology, NOD2, Frameshift mutation, Genetic, Crohn Disease, Gene Frequency, Polymorphism (computer science), Internal medicine, Medicine, Humans, Genetic Predisposition to Disease, CARD15, Frameshift Mutation, Allele frequency, Aged, Crohn's disease, Polymorphism, Genetic, Hepatology, business.industry, Significant difference, Intracellular Signaling Peptides and Proteins, Middle Aged, medicine.disease, Italy, Female, business, Carrier Proteins
Abstract: Background. Three variants of the NOD 2 /CARD 15 gene are strongly associated with susceptibility to Crohn’s disease; however, striking racial and geographic differences of their frequency have been described. Aims. We have compared the allele frequencies of familial cases of Crohn’s disease recruited in a multicentre study across Italy, in order to disclose possible geographic heterogeneity. Moreover, we also compared the allele frequencies in sporadic cases of Crohn’s disease and healthy controls from Southern Italy with those reported in other two populations from Central and Northern Italy. Subjects and Methods. A total of 731 subjects were genotyped for the polymorphism of three main variants (R702W, G908R and 1007 fs): 152 patients were familial cases of Crohn’s disease, 183 were healthy first-degree relatives, 180 were sporadic cases of Crohn’s disease, and 216 were unrelated healthy subjects. Results. The frequency of the frameshift mutation (1007 fs) was significantly higher in both familial and sporadic cases of Crohn’s disease ( P =0.000001), and healthy first-degree relatives ( P =0.0001) compared to controls. At least one risk allele was found in 44% of familial Crohn’s disease patients, compared to 7% of healthy controls (OR=4; CI=2–6.5). Two risk alleles were found in 14% of familial Crohn’s disease, compared to less than 1% of controls (OR=26: CI=4–129). Conclusions. Our data confirm the strong correlation between the 1007 fs variant and Crohn’s disease, in both familial and sporadic cases. Moreover, no significant difference of allele frequencies was detected in familial cases, sporadic cases and healthy controls among different geographic areas of Italy.
Published: 2004

17. VALIDATION OF A MODEL OF TNBS-INDUCED COLITIS IN RATS. HOW TO INDUCE COLITIS IN RATS

Author: Tomasello,G, Sinagra,E, Raimondo,D, Palumbo,VD, Puleio,R, Cottone,M, Damiani,P, Traina,G, Abruzzo,A, Damiani,F, Buscemi,S, Noto,M, and Lo Monte,AI
Subjects: Settore MED/18 - Chirurgia Generale, Settore MED/12 - Gastroenterologia, Settore MED/06 - Oncologia Medica, colitis, Intestinal Bowel Diseases, TNBS-induced colitis, rats
Published: 2015

18. Burden of Crohn's disease: economics and quality of life aspects in Italy

Author: Benedini V, Corazza GR, Rossi Z, Fornaciari G, Cottone M, Frosini G, Caruggi M, Ottolini C, Colombo G.L., CAPORASO, NICOLA, Benedini, V, Caporaso, N, Corazza, GR, Rossi, Z, Fornaciari, G, Cottone, M, Frosini, G, Caruggi, M, Ottolini, C, Colombo, GL, Caporaso, Nicola, Corazza, Gr, and Colombo, G. L.
Subjects: Settore MED/09 - Medicina Interna, CROHN S DISEASE.ECONOMICS.QUALITY OF LIFE
Abstract: BACKGROUND: This was a prospective observational study designed to evaluate direct and indirect costs and quality of life for patients with Crohn's disease in Italy from the perspectives of the National Health System and of society. METHODS: A total of 162 male and female subjects aged 18-70 years with Crohn's disease in the active phase and a Crohn's Disease Activity Index score ≥150 were included in the study. Subjects were recruited from 25 Italian centers on a consecutive basis. The study consisted of four visits undertaken every 6 months with a follow-up period of 18 months. The study started on September 1, 2006 and was completed on April 12, 2010. Multivariate analyses were carried out on demographic characteristics, treatment costs based on the prescribed daily dose, resource use and other cost parameters, and changes in quality of life using the EQ5D questionnaire. RESULTS: Cost of illness per subject with Crohn's disease in Italy was estimated to be €15,521 per year, with direct costs representing 76% of total costs. Nonhealth care costs and loss of productivity accounted for 24% of total costs. Societal costs during the first months of enrolment were higher compared with costs in the final months of the study. Quality of life measured by the EQ-5D was 0.558 initially and then increased to 0.739, with a mean value of 0.677 during the enrolment period. The cost of illness was not correlated with age or gender. CONCLUSION: The cost of illness was correlated with quality of life; Crohn's disease had a negative impact on subjects' quality of life, and higher costs corresponded to a lower quality of life as measured with the EQ5D. Drug treatment may improve quality of life and reduce hospitalization costs. Our results appear to be in line with the results of other international cost-of-illness studies
Published: 2012

19. Toxic megacolon and Hunan cytomegalovirus in a series of severe ulcerative colitis patients

Author: CRISCUOLI, Valeria, Rizzuto, M.R., Gallo,E, Cottone,M, Criscuoli,V, Rizzuto, MR., Gallo,E, and Cottone,M
Subjects: Cmv , ulcerative colitis
Published: 2012

20. A rare case of ulcerative proctitis associated with type B lymphomatoid papulosis and superimposed human cytomegalovirus infection

Author: Criscuoli, V., Rizzuto, M., Cottone, M., Criscuoli, V, Rizzuto, MR, and Cottone, M
Subjects: ulcerative proctitis.lymphomatoid papulosis.cytomegalovirus infection, Settore MED/09 - Medicina Interna
Published: 2012

21. An unusual presentation of T-lymphoma in a Crohn's 4 disease patient treated with combo therapy: We are 5 willing to take a risk of serious adverse events for a 6 doubtful benefit?

Author: Sinagra, E., Romano, C., Virdone, R., Orlando, E., Cottone, M., Sinagra, E, Romano, C, Virdone, R, Orlando, E, and Cottone, M
Subjects: Settore MED/09 - Medicina Interna, T-lymphoma.Crohn's disease.combotherapy
Published: 2012

22. Infliximab to treat Crohn's disease: an update

Author: Cottone, M., Criscuoli, V., Cottone, M, and Criscuoli, V
Subjects: Crohn’s disease, infliximab, adult
Abstract: Crohn’s disease (CD) is a chronic inflammatory disease of the gastrointestinal tract characterized by recurring flares followed by periods of inactive disease and remission. The etiology is unknown, although the common opinion is that the disease arises from a disordered immune response to the gut contents in genetically predisposed individuals. Infliximab (IFX), a chimeric immunoglobulin G1 monoclonal antibody to tumor necrosis factor, has dramatically changed the approach to managing patients with CD and improving their treatment, by achieving treatment goals, such as mucosal healing, and decreasing the need for hospitalizations and surgeries. This review provides an update on existing evidence for the use of IFX in CD, taking into account the safety profile in clinical practice and special situations such as pregnancy. Antitumor necrosis factor therapy has been evaluated as an induction and maintenance therapy in CD in several randomized controlled trials and meta-analyses, showing efficacy in both clinical settings. Early use of biologics may improve patient outcomes in active CD. However, a widespread use of a “top-down” approach in all CD patients cannot be recommended. Clinical factors at diagnosis may predict poor outcome in CD, and should be taken into account when determining the initial therapeutic approach. Keywords: Crohn’s disease, infliximab, adult
Published: 2011

23. Marked impact of IL28B genotype in the natural clearance of hepatitis C virus in patients with haemoglobinopathies

Author: Mc, Renda, Rf, Ruggeri, Piazza A, Fecarotta E, Renda D, Gr, Pantalone, Madonia S, Cottone M, Maggio A, Renda MC, Ruggeri RF, Piazza A, Fecarotta E, Renda D, Pantalone GR, Madonia S, Cottone M, and Maggio A
Subjects: Il28 genotype.hepattis c virus.heamoglobinopathies
Published: 2011

24. La lettera androgina: Karoline von Günderrode

Author: Gotti, M, Mattenklott, G, Nevalainen, T, D'Amelia, A, Di Bella, A, Linder, J, Marrapodi, M, Pelloni, G, Schirò, C, Zellmann, U, Carmina, C, Chiavetta, E, Christiansen, T, Cottone, M, Camiciotti, G, Di Maio, D, Dolei, G, Ferlita, S, Gullotta, A, La Barbera, M, Morelli, G, Ray, M, Sbriziolo, C, Sechi, M, Serpieri, A, Tedesco, M, Zito, M, Cacioppo, M, Maci, S, Mirisola, B, Schembri, R, Raciti, G, CENTORBI, Angela Nadia, Cottone, M, Chiavetta, E, Gotti, M, Mattenklott, G, Nevalainen, T, D'Amelia, A, Di Bella, A, Linder, J, Marrapodi, M, Pelloni, G, Schirò, C, Zellmann, U, Carmina, C, Christiansen, T, Camiciotti, G, Di Maio, D, Dolei, G, Ferlita, S, Gullotta, A, La Barbera, M, Morelli, G, Ray, M, Sbriziolo, C, Sechi, M, Serpieri, A, Tedesco, M, Zito, M, Cacioppo, M, Maci, S, Mirisola, B, Schembri, R, Raciti, G, and Centorbi, AN
Subjects: Settore L-LIN/13 - Letteratura Tedesca, romanticismo tedesco, Günderrode, epistolario
Published: 2010

25. Alcune osservazioni sulle lettere di Theodor W. Adorno a Thomas Mann. Ruoli, intepretazioni, forzature

Author: Cottone, M, Chiavetta, E, Gotti, M, Mattenklott, G, Nevalainen, T, Brodersen, M, D'Amelia, A, Di Bella, A, Linder, J, Marrapodi, M, Pelloni, G, Salsini, L, Schirò, CM, Zellmann, U, Carmina, C, Centorbi, AN, Christiansen, T, Del Lungo Camiciotti, G, Dolei, G, Ferlita, S, Gullotta, A, La Barbera,MA, Morelli, G, Ray, MK, Sbriziolo, C, Sechi, M, Serpieri, A, Tedesco, N, Zito, M, Burket, RE, Cacioppo, M, Maci, SM, Mirisola, B, Schembri, R, Raciti, G., DI MAIO, Davide, Cottone, M, Chiavetta, E, Di Maio, D, Gotti, M, Mattenklott, G, Nevalainen, T, Brodersen, M, D'Amelia, A, Di Bella, A, Linder, J, Marrapodi, M, Pelloni, G, Salsini, L, Schirò, CM, Zellmann, U, Carmina, C, Centorbi, AN, Christiansen, T, Del Lungo Camiciotti, G, Dolei, G, Ferlita, S, Gullotta, A, La Barbera,MA, Morelli, G, Ray, MK, Sbriziolo, C, Sechi, M, Serpieri, A, Tedesco, N, Zito, M, Burket, RE, Cacioppo, M, Maci, SM, Mirisola, B, Schembri, R, and Raciti, G
Subjects: Settore L-LIN/13 - Letteratura Tedesca, Genere epistolare, Th. W. Adorno, Th. Mann
Published: 2010

26. OF RAINSTORMS AND BUS STOPS PIOGGIA E COLORE NELLA POESIA POP INGLESE

Author: DI PIAZZA, Erika, Gannuscio, V., Soboleva, O., Agnetta, A., Chiavetta, E., Rizzo, M., Longhi, E., Di Bella, A., De Lucia, S., Burket, R. E., Centorbi, N., Cottone, M., Koleva, I., Raciti, G., Scalia, G, Schembri, R., Schirò, C. M., Sinatra, C., Tomasino, R., Weerning, M., Di Piazza, E., Gannuscio, V., Soboleva, O., Agnetta, A., Chiavetta, E., Rizzo, M., Longhi, E., Di Bella, A., De Lucia, S., Burket, R.E., Centorbi, N., Cottone, M., Koleva, I., Raciti, G., Scalia, G, Schembri, R., Schirò, C.M., Sinatra, C., Tomasino, R., and Weerning, M.
Subjects: pop poetry, Settore L-LIN/10 - Letteratura Inglese
Abstract: This paper aims to demonstrate how much Adrian Henri’s poetry changed in his last years. As a member of the Liverpool Poets together with Roger McGough and Brian Patten, Adrian Henri was attracted by what Edward Lucie-Smith called ‘performativity’. The three of them very often played public readings. Their poetry was a real ‘oral’ literature, lyrical, as only British poetry can be. Mortified by a heart attack in the late ‘90s, Henri changed his life and literary stile, adopting a more subjective and romantic use of the words, whose main power was to be evocative as well as rich in symbols.
Published: 2009

27. Gli esordi poetici di Gottfried Benn

Author: Bonifazio, M, Carmina, C, Chiavetta, E, Cottone, M, Del Lungo Camiciotti, G, Di Maio, D, Ferlita, F, La Barbera, M, La Monaca, D, Leone, G, Perrone, D, Ruffino, G, Schiro, C, Tedesco, N, Tedesco, S, Zarcone, S, Gannuscio, V, Altese, M, Ruta, M, CENTORBI, Angela Nadia, Bonifazio, M, Carmina, C, Chiavetta, E, Cottone, M, Del Lungo Camiciotti, G, Di Maio, D, Ferlita, F, La Barbera, M, La Monaca, D, Leone, G, Perrone, D, Ruffino, G, Schiro, C, Tedesco, N, Tedesco, S, Zarcone, S, Gannuscio, V, Altese, M, and Ruta, M, Centorbi, AN
Subjects: Settore L-LIN/13 - Letteratura Tedesca, Benn, Morgue, poesia
Published: 2008

28. Relazioni d’aiuto ed alessitimia: un’indagine empirica su un campione di studenti universitari

Author: Hoffmann, C, Cottone, M, Formica, I, SCRIMA, Fabrizio, Hoffmann, C, Cottone, M, Formica, I, and Scrima, F
Subjects: ALESSITIMIA psicopatologia
Published: 2007

29. L'inquinamento marino causato dai rifiuti prodotti dalle navi: sviluppi e tendenze evolutive

Author: Cottone, M and Cottone, M
Subjects: IUS/06 - DIRITTO DELLA NAVIGAZIONE, Inquinamento marino, IUS/13 - DIRITTO INTERNAZIONALE
Abstract: The legislation regarding marine pollution caused by ships has been developed on several regulatory levels (international, european and national) and has frequently been fragmented and heterogeneous, creating problems of application and harmonisation of the subject. The Marpol Convention 73/78, still remains the most important international ruling in force with regard to marine pollution caused by ships. In the course of the struggle against biological marine pollution, the international community adopted, on 13 th February 2004, the International Convention for the Control and Management of Ship's Ballast Water and sediments, which is not currently in force. On a national level, there exists the law of 8th February 2006, no. 61, which foresees the institution of ecological protected areas beyond the outer national sea limits; in these areas, the state of Italy will be able to oblige foreign ships to respect the increased safety standards (see law no. 979/82, art. 16, 17 e 20) in order to safeguard the marine environment
Published: 2007

30. Sentire e pensare mafioso nelle parole di elettori e politici siciliani tra connivenza e collusione

Author: FALGARES, Giorgio, LORITO, L, COTTONE M., FALGARES G, LORITO, and COTTONE M
Published: 2006

31. The frame-shift mutation of the NOD2/CARD15 gene is significantly increased in ulcerative colitis: an *IG-IBD study

Author: ANDRIULLI A, ANNESE V, LATIANO A, PALMIERI O, FORTINA P, ARDIZZONE S, COTTONE M, D'INCA R, G.A.S.T.R.O.E.N.T.E.R.O.L.O.G.Y. FEB, NO ABSTRACT A.V.A.I.L.A.B.L.E. ERRATUM IN G.A.S.T.R.O.E.N.T.E.R.O.L.O.G.Y. APR, ANDRUILLI, A. CORRECTED TO ANDRIULLI, RIEGLER, Gabriele, Andriulli, A, Annese, V, Latiano, A, Palmieri, O, Fortina, P, Ardizzone, S, Cottone, M, D'Inca, R, Riegler, Gabriele, Feb, G. A. S. T. R. O. E. N. T. E. R. O. L. O. G. Y., Apr, . NO ABSTRACT A. V. A. I. L. A. B. L. E. ERRATUM IN G. A. S. T. R. O. E. N. T. E. R. O. L. O. G. Y., Andruilli, and A., CORRECTED TO ANDRIULLI
Published: 2004

32. Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis

Author: Beaudoin, Melissa, Goyette, Philippe, Goel, Gautam, Louis, E., Mansfield, J. C., Mathew, C. G., McGovern, D. P., Mitrovic, M., Montgomery, G. W., Mowat, C., Newman, W., Palmieri, O., Panés, J., Lagace, Caroline, Parkes, M., Phillips, A., Ponsioen, C. Y., Potocnik, U., Prescott, N. J., Proctor, D. D., Radford-Smith, G. L., Regueiro, M., Rioux, J. D., Roberts, R., Annese, Vito, Rotter, J. I., Rutgeerts, P., Sanderson, J., Sans, M., Satsangi, J., Schreiber, S., Schumm, P., Seibold, F., Sharma, Y., Silverberg, M. S., Bitton, Alain, Simms, L. A., Steinhart, A., Targan, S. R., Taylor, K. D., Torkvist, L., Vermeire, S., Halfvarson, J., Verspaget, H. W., De Vos, M., Walters, T., Begun, Jakob, Wang, K., Weersma, R. K., Whiteman, D., Wijmenga, C., Brant, Steven R., Bresso, Francesca, Cho, Judy H., Duerr, Richard H., Halfvarson, Jonas, Boucher, Gabrielle, McGovern, Dermot P. B., Radford-Smith, Graham, Schreiber, Stefan, Schumm, Philip L., Sharma, Yashoda, Silverberg, Mark S., Weersma, Rinse K., Quebec IBD Genetics Consortium, NIDDK IBD Genetics Consortium, International IBD Genetics Consortium (IIBDGC), Lo, Ken Sin, D'Amato, Mauro, Vermeire, Severine, Franke, Andre, Lettre, Guillaume, Xavier, Ramnik J., Daly, Mark J., Rioux, John D., Aumais, G., Bernard, E. J., Bitton, A., Rivas, Manuel A., Cohen, A., Deslandres, C., Lahaie, R., Paré, P., Brant, S. R., Cho, J. H., Duerr, R. H., Stevens, Christine, Ahmad, T., Anderson, C. A., Annese, V., Baldassano, R. N., Balschun, T., Barclay, M., Barrett, J. C., Bayless, T. M., Bis, J. C., Alikashani, Azadeh, Brand, S., Bumpstead, S., Buning, C., Colombel, J. F., Cottone, M., D'Amato, M., D'Inca, R., Ladouceur, Martin, Daly, M. J., Denson, T., Dubinsky, M., Edwards, C., Ellinghaus, D., Florin, T., Franchimont, D., Franke, A., Gearry, R., Ellinghaus, David, Georges, M., Glas, J., Van Gossum, A., Griffiths, A. M., Guthery, S. L., Hakonarson, H., Haritunians, T., Hugot, J. P., de Jong, D. J., Jostins, L., Torkvist, Leif, Kugathasan, S., Kullak-Ublick, G., Latiano, A., Laukens, D., Lawrance, I., Lee, J., Lees, C. W., Lemann, M., Levine, A., Libioulle, C., and Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)
Subjects: Cancer Research, Génétique clinique, LIVER, Genome-wide association study, Inflammatory bowel disease, 0302 clinical medicine, Crohn Disease, GENETIC-VARIANTS, Medicine and Health Sciences, Ethnicity, UBIQUITIN LIGASES, Genetics(clinical), Genetics (clinical), Genetics, 0303 health sciences, Ecology, High-Throughput Nucleotide Sequencing, CROHN-DISEASE, CROHNS-DISEASE, 3. Good health, 030220 oncology & carcinogenesis, Medical genetics, Biologie, Research Article, EXPRESSION, medicine.medical_specialty, Canada, lcsh:QH426-470, SUSCEPTIBILITY LOCI, Evolution, Ubiquitin-Protein Ligases, Ethnic Groups, Evolution des espèces, Biology, Molecular gastro-enterology and hepatology Pathogenesis and modulation of inflammation [IGMD 2], Polymorphism, Single Nucleotide, 03 medical and health sciences, Behavior and Systematics, medicine, Humans, Genetic Predisposition to Disease, Ligase activity, MODULATION, Allele, GENOME-WIDE ASSOCIATION, Molecular Biology, Genotyping, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Genetic association, Ecologie, Biologie moléculaire, Receptors, Interleukin, medicine.disease, NUCLEAR FACTOR 4-ALPHA, Genetic architecture, Cancérologie, CARD Signaling Adaptor Proteins, lcsh:Genetics, CELLS, Colitis, Ulcerative, INTESTINAL EPITHELIAL-CELLS, Genome-Wide Association Study, INFLAMMATORY-BOWEL-DISEASE
Abstract: Genome-wide association studies and follow-up meta-analyses in Crohn's disease (CD) and ulcerative colitis (UC) have recently identified 163 disease-associated loci that meet genome-wide significance for these two inflammatory bowel diseases (IBD). These discoveries have already had a tremendous impact on our understanding of the genetic architecture of these diseases and have directed functional studies that have revealed some of the biological functions that are important to IBD (e.g. autophagy). Nonetheless, these loci can only explain a small proportion of disease variance (~14% in CD and 7.5% in UC), suggesting that not only are additional loci to be found but that the known loci may contain high effect rare risk variants that have gone undetected by GWAS. To test this, we have used a targeted sequencing approach in 200 UC cases and 150 healthy controls (HC), all of French Canadian descent, to study 55 genes in regions associated with UC. We performed follow-up genotyping of 42 rare non-synonymous variants in independent case-control cohorts (totaling 14,435 UC cases and 20,204 HC). Our results confirmed significant association to rare non-synonymous coding variants in both IL23R and CARD9, previously identified from sequencing of CD loci, as well as identified a novel association in RNF186. With the exception of CARD9 (OR = 0.39), the rare non-synonymous variants identified were of moderate effect (OR = 1.49 for RNF186 and OR = 0.79 for IL23R). RNF186 encodes a protein with a RING domain having predicted E3 ubiquitin-protein ligase activity and two transmembrane domains. Importantly, the disease-coding variant is located in the ubiquitin ligase domain. Finally, our results suggest that rare variants in genes identified by genome-wide association in UC are unlikely to contribute significantly to the overall variance for the disease. Rather, these are expected to help focus functional studies of the corresponding disease loci. © 2013 Beaudoin et al., 0, SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2013
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33. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

Author: Jostins, Luke, Ripke, Stephan, Weersma, Rinse K., Duerr, Richard H., Mcgovern, Dermot P., Hui, Ken Y., Lee, James C., Philip Schumm, L., Sharma, Yashoda, Anderson, Carl A., Essers, Jonah, Mitrovic, Mitja, Ning, Kaida, Cleynen, Isabelle, Theatre, Emilie, Spain, Sarah L., Raychaudhuri, Soumya, Goyette, Philippe, Wei, Zhi, Abraham, Clara, Achkar, Jean Paul, Ahmad, Tariq, Amininejad, Leila, Ananthakrishnan, Ashwin N., Andersen, Vibeke, Andrews, Jane M., Baidoo, Leonard, Balschun, Tobias, Bampton, Peter A., Bitton, Alain, Boucher, Gabrielle, Brand, Stephan, Büning, Carsten, Cohain, Ariella, Cichon, Sven, D'Amato, Mauro, De Jong, Dirk, Devaney, Kathy L., Dubinsky, Marla, Edwards, Cathryn, Ellinghaus, David, Ferguson, Lynnette R., Franchimont, Denis, Fransen, Karin, Gearry, Richard, Georges, Michel, Gieger, Christian, Glas, Jürgen, Haritunians, Talin, Hart, Ailsa, Hawkey, Chris, Hedl, Matija, Xinli, Hu, Karlsen, Tom H., Kupcinskas, Limas, Kugathasan, Subra, Latiano, Anna, Laukens, Debby, Lawrance, Ian C., Lees, Charlie W., Louis, Edouard, Mahy, Gillian, Mansfield, John, Morgan, Angharad R., Mowat, Craig, Newman, William, Palmieri, Orazio, Ponsioen, Cyriel Y., Potocnik, Uros, Prescott, Natalie J., Regueiro, Miguel, Rotter, Jerome I., Russell, Richard K., Sanderson, Jeremy D., Sans, Miquel, Satsangi, Jack, Schreiber, Stefan, Simms, Lisa A., Sventoraityte, Jurgita, Targan, Stephan R., Taylor, Kent D., Tremelling, Mark, Verspaget, Hein W., De Vos, Martine, Wijmenga, Cisca, Wilson, David C., Winkelmann, Juliane, Xavier, Ramnik J., Zeissig, Sebastian, Zhang, Bin, Zhang, Clarence K., Zhao, Hongyu, Silverberg, Mark S., Annese, Vito, Hakonarson, Hakon, Brant, Steven R., Radford Smith, Graham, Mathew, Christopher G., Rioux, John D., Schadt, Eric E., Daly, Mark J., Franke, Andre, Parkes, Miles, Vermeire, Severine, Barrett, Jeffrey C., Cho, Judy H., Barclay, M, Peyrin Biroulet, L, Chamaillard, M, Colombel, Jf, Cottone, M, Croft, A, D'Incà, R, Halfvarson J, Hanigan K, Henderson, P, Hugot, Jp, Karban, A, Kennedy, Na, Khan, Ma, Lémann, M, Levine, A, Massey, D, Milla, M, Montgomery, Gw, Ng, Sm, Oikonomou, I, Peeters, H, Proctor, Dd, Rahier, Jf, Roberts, R, Rutgeerts, P, Seibold, F, Stronati, Laura, Taylor, Km, Törkvist, L, Ublick, K, Van Limbergen, J, Van Gossum, A, Vatn, Mh, Zhang, H, Zhang, W, Andrews, Jm, Bampton, Pa, Florin, Th, Gearry, R, Krishnaprasad, K, Lawrance, Ic, Mahy, G, Radford Smith, G, Roberts, Rl, Simms, La, Amininijad, L, Cleynen, I, Dewit, O, Franchimont, D, Georges, M, Laukens, D, Theatre, E, Vermeire, S, Aumais, G, Baidoo, L, Barrie AM 3rd, Beck, K, Bernard, Ej, Binion, Dg, Bitton, A, Brant, Sr, Cho, Jh, Cohen, A, Croitoru, K, Daly, Mj, Datta, Lw, Deslandres, C, Duerr, Rh, Dutridge, D, Ferguson, J, Fultz, J, Goyette, P, Greenberg, Gr, Haritunians, T, Jobin, G, Katz, S, Lahaie, Rg, Mcgovern, Dp, Nelson, L, Ning, K, Paré, P, Regueiro, Md, Rioux, Jd, Ruggiero, E, Schumm, L, Schwartz, M, Scott, R, Sharma, Y, Silverberg, Ms, Spears, D, Steinhart, A, Stempak, Jm, Swoger, Jm, Tsagarelis, C, Zhang, C, Zhao, H, Aerts, J, Ahmad, T, Arbury, H, Attwood, A, Auton, A, Ball, Sg, Balmforth, Aj, Barnes, C, Barrett, Jc, Barroso, I, Barton, A, Bennett, Aj, Bhaskar, S, Blaszczyk, K, Bowes, J, Brand, Oj, Braund, Ps, Bredin, F, Breen, G, Brown, Mj, Bruce, In, Bull, J, Burren, Os, Burton, J, Byrnes, J, Caesar, S, Cardin, N, Clee, Cm, Coffey, Aj, Connell, Jm, Conrad, Df, Cooper, Jd, Dominiczak, Af, Downes, K, Drummond, He, Dudakia, D, Dunham, A, Ebbs, B, Eccles, D, Edkins, S, Edwards, C, Elliot, A, Emery, P, Evans, Dm, Evans, G, Eyre, S, Farmer, A, Ferrier, In, Flynn, E, Forbes, A, Forty, L, Franklyn, Ja, Frayling, Tm, Freathy, Rm, Giannoulatou, E, Gibbs, P, Gilbert, P, Gordon Smith, K, Gray, E, Green, E, Groves, Cj, Grozeva, D, Gwilliam, R, Hall, A, Hammond, N, Hardy, M, Harrison, P, Hassanali, N, Hebaishi, H, Hines, S, Hinks, A, Hitman, Ga, Hocking, L, Holmes, C, Howard, E, Howard, P, Howson, Jm, Hughes, D, Hunt, S, Isaacs, Jd, Jain, M, Jewell, Dp, Johnson, T, Jolley, Jd, Jones, Ir, Jones, La, Kirov, G, Langford, Cf, Lango Allen, H, Lathrop, Gm, Lee, J, Lee, Kl, Lees, C, Lewis, K, Lindgren, Cm, Maisuria Armer, M, Maller, J, Mansfield, J, Marchini, Jl, Martin, P, Massey, Dc, Mcardle, Wl, Mcguffin, P, Mclay, Ke, Mcvean, G, Mentzer, A, Mimmack, Ml, Morgan, Ae, Morris, Ap, Mowat, C, Munroe, Pb, Myers, S, Newman, W, Nimmo, Er, O'Donovan, Mc, Onipinla, A, Ovington, Nr, Owen, Mj, Palin, K, Palotie, A, Parnell, K, Pearson, R, Pernet, D, Perry, Jr, Phillips, A, Plagnol, V, Prescott, Nj, Prokopenko, I, Quail, Ma, Rafelt, S, Rayner, Nw, Reid, Dm, Renwick, A, Ring, Sm, Robertson, N, Robson, S, Russell, E, St Clair, D, Sambrook, Jg, Sanderson, Jd, Sawcer, Sj, Schuilenburg, H, Scott, Ce, Seal, S, Shaw Hawkins, S, Shields, Bm, Simmonds, Mj, Smyth, Dj, Somaskantharajah, E, Spanova, K, Steer, S, Stephens, J, Stevens, He, Stirrups, K, Stone, Ma, Strachan, Dp, Su, Z, Symmons, Dp, Thompson, Jr, Thomson, W, Tobin, Md, Travers, Me, Turnbull, C, Vukcevic, D, Wain, Lv, Walker, M, Walker, Nm, Wallace, C, Warren Perry, M, Watkins, Na, Webster, J, Weedon, Mn, Wilson, Ag, Woodburn, M, Wordsworth, Bp, Yau, C, Young, Ah, Zeggini, E, Brown, Ma, Burton, Pr, Caulfield, Mj, Compston, A, Farrall, M, Gough, Sc, Hall, As, Hattersley, At, Hill, Av, Mathew, Cg, Pembrey, M, Satsangi, J, Stratton, Mr, Worthington, J, Hurles, Me, Duncanson, A, Ouwehand, Wh, Parkes, M, Rahman, N, Todd, Ja, Samani, Nj, Kwiatkowski, Dp, Mccarthy, Mi, Craddock, N, Deloukas, P, Donnelly, P, Blackwell, Jm, Bramon, E, Casas, Jp, Corvin, A, Jankowski, J, Markus, Hs, Palmer, Cn, Plomin, R, Rautanen, A, Trembath, Rc, Viswanathan, Ac, Wood, Nw, Spencer, Cc, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Pirinen, M, Strange, A, Blackburn, H, Bumpstead, Sj, Dronov, S, Gillman, M, Jayakumar, A, Mccann, Ot, Liddle, J, Potter, Sc, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P., AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Gastroenterology and Hepatology, and Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)
Subjects: Genome-wide association study, Disease, SUSCEPTIBILITY, Inflammatory bowel disease, NUMBER, 0302 clinical medicine, Crohn Disease, NETWORK, Genetics, 0303 health sciences, Multidisciplinary, Genomics, Ulcerative colitis, 3. Good health, Colitis, Ulcerative, Genetic Predisposition to Disease, Genome, Human, Haplotypes, Humans, Inflammatory Bowel Diseases, Mycobacterium, Mycobacterium Infections, Mycobacterium tuberculosis, Phenotype, Polymorphism, Single Nucleotide, Reproducibility of Results, Genome-Wide Association Study, Host-Pathogen Interactions, IRGM, Medical genetics, 030211 gastroenterology & hepatology, EXPRESSION, medicine.medical_specialty, Immunology, Biology, Molecular gastro-enterology and hepatology Pathogenesis and modulation of inflammation [IGMD 2], TUBERCULOSIS, 03 medical and health sciences, Medical research, medicine, Allele, METAANALYSIS, 030304 developmental biology, HYPER-IGE SYNDROME, MUTATIONS, medicine.disease, RISK LOCI, Genetic architecture, digestive system diseases
Abstract: Crohn's disease and ulcerative colitis, the two common forms of inflammatory bowel disease (IBD), affect over 2.5 million people of European ancestry, with rising prevalence in other populations(1). Genome-wide association studies and subsequent meta-analyses of these two diseases(2,3) as separate phenotypes have implicated previously unsuspected mechanisms, such as autophagy(4), in their pathogenesis and showed that some IBD loci are shared with other inflammatory diseases(5). Here we expand on the knowledge of relevant pathways by undertaking a meta-analysis of Crohn's disease and ulcerative colitis genome-wide association scans, followed by extensive validation of significant findings, with a combined total of more than 75,000 cases and controls. We identify 71 new associations, for a total of 163 IBD loci, that meet genome-wide significance thresholds. Most loci contribute to both phenotypes, and both directional (consistently favouring one allele over the course of human history) and balancing (favouring the retention of both alleles within populations) selection effects are evident. Many IBD loci are also implicated in other immune-mediated disorders, most notably with ankylosing spondylitis and psoriasis. We also observe considerable overlap between susceptibility loci for IBD and mycobacterial infection. Gene co-expression network analysis emphasizes this relationship, with pathways shared between host responses to mycobacteria and those predisposing to IBD.
Published: 2012
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34. Age is a Risk Factor for Severe Infections and Mortality in Patients given Anti-Tumor Necrosis Factor Therapy for Inflammatory bowel disease

Author: Cottone, M., Kohn, A., Daperno, M., Armuzzi, A., Guidi, L., D'Inca, R., Bossa, F., Angelucci, E., Biancone, L., Gionchetti, P., Ardizzone, S., Papi, C., Fries, Walter, Danese, S., Riegler, G., Cappello, M., Castiglione, F., Annese, V., and Orlando, A.
Published: 2011

35. Clinical trial: five or ten cycles of granulocyte-monocyte apheresis show equivalent efficacy and safety in ulcerative colitis

Author: Dignass, Au, Eriksson, A, Kilander, A, Pukitis, A, Rhodes, Jm, Dignass A, Vavricka S., Lochs, H, Porst, H, von Boyen, G, Raedler, A, Reinshagen, M, Bonaz, B, Vogel, W, Vavricka, S, Felley, C, Seibold, F, Ciacci, Carolina, Vecchi, M, Sablich, R, Malesci, A, Cottone, M, Riegler, G, Minoli, G, Lanzini, A, Hébuterne, X, Premchand, P, Douglas, K, Rhodes, J, Castro Larsa, L, Rodriguez Pérez, A, Lapidus, A, Makin, A, Vatn, Mh, Bouhnik, Y, Kruis, W, Bommelaer, G, Thillainayagam, A, Sturm, A, Baumgart, Dc, Annese, V, Indriolo, A, Emmrich, J., Department of Medicine I, Agaplesion Markus Krankenhaus = Agaplesion Markus Hospital [Frankfurt], Sahlgrenska University Hospital [Gothenburg], Paul Stradins Clinical University Hospital, Royal Liverpool Hospital, Department of Gastroenterology and Hepatology, Universitätsspital Zürich (USZ), 41 collaborators, and Sinniger, Valérie
Subjects: Adult, Male, MESH: Colitis, Ulcerative, MESH: Monocytes, Severity of Illness Index, Monocytes, MESH: Severity of Illness Index, Humans, Prospective Studies, MESH: Treatment Outcome, MESH: Humans, MESH: Middle Aged, MESH: Adult, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, Middle Aged, [SDV.MHEP.HEG] Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, MESH: Steroids, MESH: Male, MESH: Prospective Studies, MESH: Blood Component Removal, Treatment Outcome, MESH: Granulocytes, Blood Component Removal, Colitis, Ulcerative, Female, Steroids, MESH: Female, Granulocytes
Abstract: APPENDIX: INVESTIGATORS BY PARTICIPATING SITE: A Dignass: Markus-Krankenhaus, Frankfurt, Germany; H Lochs: Campus Charité Mitte Berlin, Germany; H Porst: Städtisches Klinikum Dresden, Germany; G von Boyen: Universitäts-klinikum Ulm, Ulm, Germany; A Raedler: Asklepios Westklinikum, Hamburg, Germany; M Reinshagen: Städtisches Klinikum, Braunschweig, Germany; B Bonaz: Albert Michallon Hospital, Grenoble, France; W Vogel: LKH Univ.-Klinik, Innsbruck, Austria; S Vavricka: Universita¨tsspital Zürich, Switzerland; C Felley: CHUV Lausanne, Switzerland; F Seibold: Inselspital, Bern, Switzerland; C Ciacci: Università Federico II, Napoli, Italy; M Vecchi: Policlinico S. Donato Milanese, Italy; R Sablich: Ospedale S. Maria degli Angeli, Pordenone, Italy; A Malesci: Clinico Humanitas Rozzano, Milano, Italy; M Cottone: Ospedale Cervello Palermo, Italy; G Riegler: Policlinico II, Università di Napoli, Napoli, Italy; G Minoli: Ospedale Valduce, Como, Italy; A Lanzini: Spedali Civili 1, Brescia, Italy; X Hébuterne: Hôpital de l'Archet 2, Nice, France; P Premchand: Queen's Hospital, Romford, United Kingdom; K Douglas: West of Scotland Cancer Centre, Glasgow, United Kingdom; J Rhodes: Royal Liverpool Hospital, Liverpool, United Kingdom; L Castro-Larsa: Hospital Virgen Macarena, Seville, Spain; A Rodriguez- Pérez: Hospital Universitario de Salamanca, Salamanca, Spain; A Pukitis: Paul Stradins Clinical University Hospital, Riga, Latvia; A Kilander: Sahlgrenska Universitetssjukhuset, Gothenberg, Sweden; A Lapidus: Ersta Sjukhus, Stockholm, Sweden; A Makin: Manchester Royal Infirmary, Manchester, United Kingdom; M H Vatn: Rikshospitalet, Oslo, Norway; R Løfberg: Sophia Hemmet Hospital, Stockholm, Sweden; Y Bouhnik: Hopital Beaujon, Clichy, France; B Flourié: Centre Hospitalier Lyon Sud, Pierre-Bénite, France; W Kruis: Ev. Krankenhaus, Köln-Kalk, Germany; G Bommelaer: CHU HOTEL-Dieu, Clermont-Ferrand, France; A Thillainayagam: Charing Cross Hospital, London, United Kingdom; A Sturm and DC Baumgart: Charité Campus Virchov-Klinikum, Berlin, Germany; V Annese: CSS-IRCCS Hospital, San Giovanni Rotondo, Italy; A Indriolo: Ospedali Reuniti, Bergamo, Italy; A Eriksson: Sahlgrenska University Hospital ⁄ East Hospital, Gothenberg, Sweden; S Vavricka: Universitätsspital, Basel, Switzerland; J Emmrich: Universität Rostock, Rostock, Germany.; International audience; BACKGROUND: Ulcerative colitis is characterized by leucocyte infiltration into the colonic mucosa. Granulocyte-monocyte apheresis depletes these cells. AIM: To assess the non-inferiority of 5-10 apheresis treatments in patients with steroid-dependent or steroid-refractory ulcerative colitis. METHODS: A total of 196 adults with moderate-severe ulcerative colitis were randomized 1:1 to 5 (n = 96) or 10 (n = 90) open label apheresis treatments. The primary endpoint was non-inferiority of clinical activity index score after 12 weeks. RESULTS: The intent-to-treat population comprised 82 and 80 patients for the 5- and 10-treatment groups, respectively. The difference between the two groups in mean clinical activity index was 0.24 with an upper 95% confidence interval of 1.17, which was below a predefined non-inferiority threshold of 1.33. Clinical activity index score improved from baseline in both groups (from 8.7 to 5.6 with 5 treatments, and from 8.8 to 5.4 with 10), with no significant difference between the groups (P = 0.200). Outcomes for the 5- and 10-treatment groups were similar--clinical remission: 44% and 40%, respectively (P = 0.636); clinical response: 56% and 59%, respectively (P = 0.753). The treatment was well tolerated in both groups. CONCLUSIONS: This prospective study comparing apheresis regimens in ulcerative colitis demonstrates that 5 treatments were not inferior to 10 treatments in steroid-refractory or -dependent ulcerative colitis.
Published: 2010
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36. Anti-TNF therapy in elderly people in IBD; an Italian multicentre survey

Author: Cottone, M., Kohn, A., Daperno, M., Armuzzi, A., Guidi, L., D’Incà, R., Bossa, F., Biancone, L., Gionchetti, P., Ardizzone, S., Papi, C., Fries, Walter, Danese, S., Cappello, M., and Orlando, A.
Published: 2010

37. Early Post-operative endoscopic recurrence in Crohn’s disease in an Italian mulcentric cohort

Author: Orlando, A., Scimeca, D., Mocciaro, F., Testa, A., Aratari, A., Bossa, F., Tambasco, R., Angelucci, E., Onali, S., Cappello, M., Fries, Walter, D’Incà, R., Castiglione, F., Papi, C., Annese, V., Gionchetti, P., Vernia, P., Biancone, L., and Cottone, M.
Published: 2010

38. Clinical trial: ulcerative colitis maintenance treatment with 5-ASA: a 1-year, randomized multicentre study comparing MMXwith Asacol

Author: Prantera, C, Kohn, A, Campieri, M, Caprilli, R, Cottone, M, Pallone, F, Savarino, Vincenzo, Sturniolo, Gc, Vecchi, M, Ardia, A, and Bellinvia, S.
Published: 2009

39. Use of alternative and complementary medicine in Italian patients with Inflammatory Bowel Disease

Author: D’Incà, R., Bertomoro, P., Garibba, A. T., Pastorelli, L., Bortoli, A., Vecchi, M., Ferrarsi, L., Di Paolo, M. C., Renna, S., Tipaldi, C., Castiglone, F., Bossa, F., Annese, V., Cottone, M., Angelucci, E., Cassieri, C., Casella, G., Fazi, M., Kohn, A., Fries, Walter, Papi, C., Meucci, G., and Principi, B.
Published: 2009

40. Beclomethasone dipropionate enemas versus prednisolone sodium phosphate enemas in the treatment of distal ulcerative colitis

Author: Campieri M, Cottone M, Miglio F, Manenti F, Astegiano M, Manguso F, D'Albasio G, Bonanomi A, Galeazzi R, Orlando A, Castiglione GN, Gionchetti P., D'ARIENZO, AGESILAO, Campieri, M, Cottone, M, Miglio, F, Manenti, F, Astegiano, M, D'Arienzo, Agesilao, Manguso, F, D'Albasio, G, Bonanomi, A, Galeazzi, R, Orlando, A, Castiglione, Gn, and Gionchetti, P.
Subjects: Adult, Male, ulcerative colitis, Administration, Topical, Prednisolone, Anti-Inflammatory Agents, Beclomethasone, Enema, Beclomethasone dipropionate, Treatment Outcome, Double-Blind Method, prednisolone sodium phosphate, Humans, Colitis, Ulcerative, Female, Glucocorticoids
Abstract: To compare beclomethasone dipropionate 3 mg/60 mL enema (BDP) and prednisolone sodium phosphate 30 mg/60 mL enema (PP) once daily in patients with active distal ulcerative colitis.One hundred and fifty-seven patients were enrolled in a multicentre, 4-week, randomized, double-blind trial. Patients were assessed at baseline, 2 and 4 weeks.Both treatment groups showed statistically significant improvement of clinical activity after 2 and 4 weeks. Endoscopy and biopsy showed a reduction in the activity score at the end of the treatment period in both groups. No statistically significant difference was observed between the two treatment groups. After 4 weeks, 29% of patients in the BDP group and 25% in the PP group were considered to be in clinical remission; an improvement was observed in 40% of patients on BDP and in 47% on PP. Mean morning plasma cortisol levels showed a slight but significant reduction in the PP group, while the ACTH test showed that neither drug interfered with the hypothalamic-pituitary-adrenal (HPA) axis function. No significant changes were observed in the laboratory tests. Finally, there was a low incidence of adverse events in both groups.It is concluded that, in the topical treatment of active distal ulcerative colitis, BDP 3 mg enemas are as efficacious as PP 30 mg enemas, without interference with the HPA axis.
Published: 1998

41. Cancer in Infliximab treated or untreated Crohn’s disease patients: a 2 years longer follow up from a multicenter matched-pair study

Author: Biancone, L, Orlando, A, Kohn, A, Colombo, E, Sostegni, R, Angelucci, E, Castiglione, F, Checchin, D, Papi, C, Cocco, A, Meucci, G, Riegler, G, Petruzziello, C, Mocciaro, F, Geremia, A, Calabrese, E, Cottone, M, and Pallone, F
Subjects: Settore MED/12 - Gastroenterologia
Published: 2007

42. NOD/2CARD15, TLR-4 and and intestinal permeability in patients, first degree relatives and controls in a high incidence area of

Author: Fries, Walter, Renda, M. C., Lo Presti, M. A., Raso, A., Orlando, A., Oliva, L., Maggio, A., Mattaliano, A., Macaluso, A., and Cottone, M.
Published: 2005

43. CARD15 mutations and intestinal permeability in patients, first degree relatives and controls in a high incidence area of Crohn’s disease

Author: Fries, Walter, Renda, M. C., LO PRESTI, M. A., Raso, A, Orlando, A, Oliva, L, Maggio, A, Mattaliano, A, Macaluso, A, and Cottone, M.
Published: 2004

44. Meta-analysis of Transarterial Embolization in Patients with Unresectable Hepatocellular Carcinoma: Dr Camma and colleagues respond

Author: Camma, C., Schepis, Filippo, Cottone, M., and Craxi, A.
Subjects: Transarterial Embolization, Meta-analysis, Unresectable Hepatocellular Carcinoma
Published: 2003

45. Mesalazine in the prevention of clinical and endoscopical postoperative recurrence of Crohn’s disease: a meta-analysis

Author: Cammà, C, Viscido, Angelo, Latella, Giovanni, Caprilli, R, and Cottone, M.
Published: 2002

46. Two mesalazine regimens in the prevention of postoperative recurrence (POR) of Crohn's disease: A double blind randomised controlled trial by GISC with a meta-analysis of other studies

Author: Caprilli, R, Tonelli, F, Cottone, M, Sturniolo, Gc, Castiglione, F, Annese, V, Papi, C, Viscido, Angelo, Cammà, C, Corrao, G, and Latella, Giovanni
Published: 2002

47. Factor V Leiden and prothrombin gene mutation in inflammatory bowel disease in a Mediterranean area

Author: Turri, D, Rosselli, M, Simioni, Paolo, Tormene, Daniela, Grimaudo, S, Martorana, G, Siragusa, S, Mariani, G, Cottone, M, and Siracusa, S.
Published: 2001

48. Survival and causes of death in Italian patients with ulcerative colitis. A GISC nation-wide study

Author: Viscido, Angelo, Bagnardi, V, Sturniolo, Gc, Annese, V, Frieri, G, D'Arienzo, A, Papi, C, Riegler, G, Corrao, G, Caprilli, R, Paoluzi, P, Capurzo, L, Di Paolo MC, Stigliano, V, Fracasso, P, Latella, Giovanni, Cottone, M, D'Incà, R, Di Leo, V, Del Vecchio Blanco, C, Ciancio, G, Ingrosso, M, Ponti, V, Mansi, C, Valpiani, D, and Rigo, G.
Published: 2001

49. Patients with Chronic Diarrhea

Author: Aiala R, Cottone M, and Di Mitri R
Subjects: medicine.medical_specialty, Text mining, Chronic diarrhea, business.industry, Internal medicine, medicine, General Medicine, business
Published: 1995
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50. Oral 5-Aminosalicylic Acid (Asacol) in the Maintenance Treatment of Crohnʼs Disease

Author: Brunetti G, Miglioli M, Francesco Pallone, Cosimo Prantera, and Cottone M
Subjects: medicine.medical_specialty, chemistry.chemical_compound, Aminosalicylic acid, chemistry, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, Gastroenterology, medicine, Disease, business
Published: 1993
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