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277 results on '"Kupcinskas, J."'

1. A pleiotropy scan to discover new susceptibility loci for pancreatic ductal adenocarcinoma

Author

Giaccherini, M, primary, Rende, M, additional, Gentiluomo, M, additional, Corradi, C, additional, Archibugi, L, additional, Ermini, S, additional, Maiello, E, additional, Morelli, L, additional, van Eijck, C H J, additional, Cavestro, G M, additional, Schneider, M, additional, Mickevicius, A, additional, Adamonis, K, additional, Basso, D, additional, Hlavac, V, additional, Gioffreda, D, additional, Talar-Wojnarowska, R, additional, Schöttker, B, additional, Lovecek, M, additional, Vanella, G, additional, Gazouli, M, additional, Uno, M, additional, Malecka-Wojciesko, E, additional, Vodicka, P, additional, Goetz, M, additional, Bijlsma, M F, additional, Petrone, M C, additional, Bazzocchi, F, additional, Kiudelis, M, additional, Szentesi, A, additional, Carrara, S, additional, Nappo, G, additional, Brenner, H, additional, Milanetto, A C, additional, Soucek, P, additional, Katzke, V, additional, Peduzzi, G, additional, Rizzato, C, additional, Pasquali, C, additional, Chen, X, additional, Capurso, G, additional, Hackert, T, additional, Bueno-de-Mesquita, B, additional, Uzunoglu, F G G, additional, Hegyi, P, additional, Greenhalf, W, additional, Theodoropoulos, G E E, additional, Sperti, C, additional, Perri, F, additional, Oliverius, M, additional, Mambrini, A, additional, Tavano, F, additional, Farinella, R, additional, Arcidiacono, P G, additional, Lucchesi, M, additional, Bunduc, S, additional, Kupcinskas, J, additional, Di Franco, G, additional, Stocker, S, additional, Neoptolemos, J P, additional, Bambi, F, additional, Jamroziak, K, additional, Testoni, S G G, additional, Aoki, M N, additional, Mohelnikova-Duchonova, B, additional, Izbicki, J R, additional, Pezzilli, R, additional, Lawlor, R T, additional, Kauffmann, E F, additional, López de Maturana, E, additional, Malats, N, additional, Canzian, F, additional, and Campa, D, additional

Published
2024
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3. Management of Helicobacter pylori infection

Author

Malfertheiner, Peter, Megraud, Francis, Rokkas, Theodore, Gisbert, Javier P., Liou, Jyh-Ming, Schulz, Christian, Gasbarrini, Antonio, Hunt, Richard H., Leja, Marcis, O’Morain, Colm, Rugge, Massimo, Suerbaum, Sebastian, Tilg, Herbert, Sugano, Kentaro, El-Omar, Emad M., Agreus, L., Bazzoli, F, Bordin, D, Loginov, A.S., Mario, F. D., Dinis-Ribeiro, M., Engstrand, Lars, Fallone, C, Goh, K.L., Graham, David, Kuipers, E.J., Kupcinskas, J., Lanas, A., Machado, Jose C., Mahachai, V., Marshall, B.J., Milosavljevic, Tomica, Moss, S.F., Park, J.Y., Niv, Y., Rajilić-Stojanović, Mirjana, Ristimaki, A, Smith, S., Tepeš, Bojan, Wu, C.Y., Zhou, L., and Gastroenterology & Hepatology

Subjects
SDG 3 - Good Health and Well-being, gastric cancer, Settore MED/12 - GASTROENTEROLOGIA, Gastroenterology, helicobacter pylori, helicobacter pylori - treatment, helicobacter pylori - gastritis
Abstract

Helicobacter pyloriInfection is formally recognised as an infectious disease, an entity that is now included in the International Classification of Diseases 11th Revision. This in principle leads to the recommendation that all infected patients should receive treatment. In the context of the wide clinical spectrum associated with Helicobacter pylori gastritis, specific issues persist and require regular updates for optimised management.The identification of distinct clinical scenarios, proper testing and adoption of effective strategies for prevention of gastric cancer and other complications are addressed. H. pylori treatment is challenged by the continuously rising antibiotic resistance and demands for susceptibility testing with consideration of novel molecular technologies and careful selection of first line and rescue therapies. The role of H. pylori and antibiotic therapies and their impact on the gut microbiota are also considered.Progress made in the management of H. pylori infection is covered in the present sixth edition of the Maastricht/Florence 2021 Consensus Report, key aspects related to the clinical role of H. pylori infection were re-evaluated and updated. Forty-one experts from 29 countries representing a global community, examined the new data related to H. pylori infection in five working groups: (1) indications/associations, (2) diagnosis, (3) treatment, (4) prevention/gastric cancer and (5) H. pylori and the gut microbiota. The results of the individual working groups were presented for a final consensus voting that included all participants. Recommendations are provided on the basis of the best available evidence and relevance to the management of H. pylori infection in various clinical fields.

Published
2022

4. Disease course of Crohn's disease during the first ten years following diagnosis in a prospective European population-based inception cohort - the Epi-IBD cohort

Author

Wewer, M. D., Salupere, R., Kievit, H. A. L., Nielsen, K. R., Midjord, J., Domislovic, V., Krznarić, Ž., Pedersen, N., Kjeldsen, J., Eriksson, Carl, Halfvarson, Jonas, Talbot, A., Sebastian, S., Goldis, A., Misra, R., Arebi, N., Ilus, T., Oksanen, P., Neuman, A., Andersen, V., Skamnelos, A., Katsanos, K. H., Platon, V., Turcan, S., Borg, B., Ellul, P., Kupcinskas, J., Kiudelis, G., Yzet, C., Fumery, M., Kaimakliotis, I. P., Lorenzon, G., D'Inca, R., Hernandez, V., Fernandez, A., Langholz, E., Munkholm, P., Burisch, J., Wewer, M. D., Salupere, R., Kievit, H. A. L., Nielsen, K. R., Midjord, J., Domislovic, V., Krznarić, Ž., Pedersen, N., Kjeldsen, J., Eriksson, Carl, Halfvarson, Jonas, Talbot, A., Sebastian, S., Goldis, A., Misra, R., Arebi, N., Ilus, T., Oksanen, P., Neuman, A., Andersen, V., Skamnelos, A., Katsanos, K. H., Platon, V., Turcan, S., Borg, B., Ellul, P., Kupcinskas, J., Kiudelis, G., Yzet, C., Fumery, M., Kaimakliotis, I. P., Lorenzon, G., D'Inca, R., Hernandez, V., Fernandez, A., Langholz, E., Munkholm, P., and Burisch, J.

Published
2023
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5. Disease course of Ulcerative Colitis during the first ten years following diagnosis in a prospective European population-based inception cohort - the Epi-IBD cohort

Author

Wewer, M. D., Salupere, R., Kievit, H. A. L., Nielsen, K. R., Midjord, J., Domislovic, V., Krznarić, Ž., Pedersen, N., Jens, K., Eriksson, Carl, Halfvarson, Jonas, Talbot, A., Sebastian, S., Goldis, A., Misra, R., Arebi, N., Ilus, T., Oksanen, P., Neuman, A., Andersen, V., Skamnelos, A., Katsanos, K. H., Negru, I., Turcan, S., Borg, B., Ellul, P., Kupcinskas, J., Kiudelis, G., Yzet, C., Fumery, M., Kaimakliotis, I. P., Lorenzon, G., D'Inca, R., Hernandez, V., Fernandez, A., Langholz, E., Munkholm, P., Burisch, J., Wewer, M. D., Salupere, R., Kievit, H. A. L., Nielsen, K. R., Midjord, J., Domislovic, V., Krznarić, Ž., Pedersen, N., Jens, K., Eriksson, Carl, Halfvarson, Jonas, Talbot, A., Sebastian, S., Goldis, A., Misra, R., Arebi, N., Ilus, T., Oksanen, P., Neuman, A., Andersen, V., Skamnelos, A., Katsanos, K. H., Negru, I., Turcan, S., Borg, B., Ellul, P., Kupcinskas, J., Kiudelis, G., Yzet, C., Fumery, M., Kaimakliotis, I. P., Lorenzon, G., D'Inca, R., Hernandez, V., Fernandez, A., Langholz, E., Munkholm, P., and Burisch, J.

Published
2023
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6. Dissecting the genetic heterogeneity of gastric cancer

Author

Hess, T., Maj, C., Gehlen, J., Borisov, O., Haas, S. L., Gockel, I., Vieth, M., Piessen, G., Alakus, H., Vashist, Y., Pereira, C., Knapp, M., Schuller, V., Quaas, A., Grabsch, H. I., Trautmann, J., Malecka-Wojciesko, E., Mokrowiecka, A., Speller, J., Mayr, A., Schroder, J., Hillmer, A. M., Heider, D., Lordick, F., Perez-Aisa, A., Campo, R., Espinel, J., Geijo, F., Thomson, C., Bujanda, L., Sopena, F., Lanas, A., Pellise, M., Pauligk, C., Goetze, T. O., Zelck, C., Reingruber, J., Hassanin, E., Elbe, P., Alsabeah, S., Lindblad, M., Nilsson, M., Kreuser, N., Thieme, R., Tavano, F., Pastorino, Roberta, Arzani, D., Persiani, Roberto, Jung, J. -O., Nienhuser, H., Ott, K., Schumann, R. R., Kumpf, O., Burock, S., Arndt, V., Jakubowska, A., Lawniczak, M., Moreno, V., Martin, V., Kogevinas, M., Pollan, M., Dabrowska, J., Salas, A., Cussenot, O., Boland-Auge, A., Daian, D., Deleuze, J. -F., Salvi, E., Teder-Laving, M., Tomasello, G., Ratti, M., Senti, C., De Re, V., Steffan, A., Holscher, A. H., Messerle, K., Bruns, C. J., Sivins, A., Bogdanova, I., Skieceviciene, J., Arstikyte, J., Moehler, M., Lang, H., Grimminger, P. P., Kruschewski, M., Vassos, N., Schildberg, C., Lingohr, P., Ridwelski, K., Lippert, H., Fricker, N., Krawitz, P., Hoffmann, Christian Pieter, Nothen, M. M., Veits, L., Izbicki, J. R., Mostowska, A., Martinon-Torres, F., Cusi, D., Adolfsson, R., Cancel-Tassin, G., Hoblinger, A., Rodermann, E., Ludwig, M., Keller, G., Metspalu, A., Brenner, H., Heller, J., Neef, M., Schepke, M., Dumoulin, F. L., Hamann, L., Cannizzaro, Rino, Ghidini, Maria Candida, Plassmann, D., Geppert, M., Malfertheiner, P., Gehlen, O., Skoczylas, T., Majewski, M., Lubinski, J., Palmieri, O., Boccia, Stefania, Latiano, A., Aragones, N., Schmidt, T., Dinis-Ribeiro, M., Medeiros, R., Al-Batran, S. -E., Leja, M., Kupcinskas, J., Garcia-Gonzalez, M. A., Venerito, M., Schumacher, J., Pastorino R. (ORCID:0000-0001-5013-0733), Persiani R. (ORCID:0000-0002-1537-5097), Hoffmann P., Cannizzaro R., Ghidini M., Boccia S. (ORCID:0000-0002-1864-749X), Hess, T., Maj, C., Gehlen, J., Borisov, O., Haas, S. L., Gockel, I., Vieth, M., Piessen, G., Alakus, H., Vashist, Y., Pereira, C., Knapp, M., Schuller, V., Quaas, A., Grabsch, H. I., Trautmann, J., Malecka-Wojciesko, E., Mokrowiecka, A., Speller, J., Mayr, A., Schroder, J., Hillmer, A. M., Heider, D., Lordick, F., Perez-Aisa, A., Campo, R., Espinel, J., Geijo, F., Thomson, C., Bujanda, L., Sopena, F., Lanas, A., Pellise, M., Pauligk, C., Goetze, T. O., Zelck, C., Reingruber, J., Hassanin, E., Elbe, P., Alsabeah, S., Lindblad, M., Nilsson, M., Kreuser, N., Thieme, R., Tavano, F., Pastorino, Roberta, Arzani, D., Persiani, Roberto, Jung, J. -O., Nienhuser, H., Ott, K., Schumann, R. R., Kumpf, O., Burock, S., Arndt, V., Jakubowska, A., Lawniczak, M., Moreno, V., Martin, V., Kogevinas, M., Pollan, M., Dabrowska, J., Salas, A., Cussenot, O., Boland-Auge, A., Daian, D., Deleuze, J. -F., Salvi, E., Teder-Laving, M., Tomasello, G., Ratti, M., Senti, C., De Re, V., Steffan, A., Holscher, A. H., Messerle, K., Bruns, C. J., Sivins, A., Bogdanova, I., Skieceviciene, J., Arstikyte, J., Moehler, M., Lang, H., Grimminger, P. P., Kruschewski, M., Vassos, N., Schildberg, C., Lingohr, P., Ridwelski, K., Lippert, H., Fricker, N., Krawitz, P., Hoffmann, Christian Pieter, Nothen, M. M., Veits, L., Izbicki, J. R., Mostowska, A., Martinon-Torres, F., Cusi, D., Adolfsson, R., Cancel-Tassin, G., Hoblinger, A., Rodermann, E., Ludwig, M., Keller, G., Metspalu, A., Brenner, H., Heller, J., Neef, M., Schepke, M., Dumoulin, F. L., Hamann, L., Cannizzaro, Rino, Ghidini, Maria Candida, Plassmann, D., Geppert, M., Malfertheiner, P., Gehlen, O., Skoczylas, T., Majewski, M., Lubinski, J., Palmieri, O., Boccia, Stefania, Latiano, A., Aragones, N., Schmidt, T., Dinis-Ribeiro, M., Medeiros, R., Al-Batran, S. -E., Leja, M., Kupcinskas, J., Garcia-Gonzalez, M. A., Venerito, M., Schumacher, J., Pastorino R. (ORCID:0000-0001-5013-0733), Persiani R. (ORCID:0000-0002-1537-5097), Hoffmann P., Cannizzaro R., Ghidini M., and Boccia S. (ORCID:0000-0002-1864-749X)

Abstract

Background: Gastric cancer (GC) is clinically heterogenous according to location (cardia/non-cardia) and histopathology (diffuse/intestinal). We aimed to characterize the genetic risk architecture of GC according to its subtypes. Another aim was to examine whether cardia GC and oesophageal adenocarcinoma (OAC) and its precursor lesion Barrett's oesophagus (BO), which are all located at the gastro-oesophageal junction (GOJ), share polygenic risk architecture. Methods: We did a meta-analysis of ten European genome-wide association studies (GWAS) of GC and its subtypes. All patients had a histopathologically confirmed diagnosis of gastric adenocarcinoma. For the identification of risk genes among GWAS loci we did a transcriptome-wide association study (TWAS) and expression quantitative trait locus (eQTL) study from gastric corpus and antrum mucosa. To test whether cardia GC and OAC/BO share genetic aetiology we also used a European GWAS sample with OAC/BO. Findings: Our GWAS consisting of 5816 patients and 10,999 controls highlights the genetic heterogeneity of GC according to its subtypes. We newly identified two and replicated five GC risk loci, all of them with subtype-specific association. The gastric transcriptome data consisting of 361 corpus and 342 antrum mucosa samples revealed that an upregulated expression of MUC1, ANKRD50, PTGER4, and PSCA are plausible GC-pathomechanisms at four GWAS loci. At another risk locus, we found that the blood-group 0 exerts protective effects for non-cardia and diffuse GC, while blood-group A increases risk for both GC subtypes. Furthermore, our GWAS on cardia GC and OAC/BO (10,279 patients, 16,527 controls) showed that both cancer entities share genetic aetiology at the polygenic level and identified two new risk loci on the single-marker level. Interpretation: Our findings show that the pathophysiology of GC is genetically heterogenous according to location and histopathology. Moreover, our findings point to common molecular me

Published
2023

10. Polymorphic variants involved in methylation regulation: a new strategy to discover risk loci for pancreatic ductal adenocarcinoma

Author

Corradi, Chiara, primary, Lencioni, G., additional, Gentiluomo, M., additional, Latiano, A., additional, Kiudelis, G., additional, van Eijck, C., additional, Marta, K., additional, Lawlor, R., additional, Tavano, F., additional, Boggi, U., additional, Dijk, F., additional, Cavestro, G., additional, Vermeulen, R., additional, Hackert, T., additional, Petrone, M., additional, Uzunoglu, F., additional, Archibugi, L., additional, Izbicki, J., additional, Mesquita, B. Bueno-de-, additional, Morelli, L., additional, Zerbi, A., additional, Stocker, H., additional, Talar-Wojnarowska, R., additional, Di Franco, G., additional, Hegyi, P., additional, Sperti, C., additional, Carrara, S., additional, Capurso, G., additional, Gazouli, M., additional, Brenner, H., additional, Bunduc, S., additional, Busch, O., additional, Landi, S., additional, Perri, F., additional, Oliverius, M., additional, Goetz, M., additional, Scognamiglio, P., additional, Mambrini, A., additional, Arcidiacono, P., additional, Kreivenaite, E., additional, Kupcinskas, J., additional, Hussein, T., additional, Ermini, S., additional, Milanetto, A., additional, Vodicka, P., additional, Kiudelis, V., additional, Hlavac, V., additional, Soucek, P., additional, Theodoropoulos, G., additional, Basso, D., additional, Aoki, M., additional, Pezzilli, R., additional, Pasquali, C., additional, Chammas, R., additional, Testoni, S., additional, Mohelníková-Duchoňová, B., additional, Lucchesi, M., additional, Neoptolemos, J., additional, Canzian, F., additional, and Campa, D., additional

Published
2022
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11. Exploring the Neandertal legacy of pancreatic ductal adenocarcinoma risk in Eurasians

Author

Gentiluomo, Manuel, primary, Piccardi, M., additional, Bertoncini, S., additional, Costello, E., additional, Morelli, L., additional, Landi, S., additional, Milanetto, A., additional, Schöttker, B., additional, Di Franco, G., additional, Ermini, S., additional, Scarpa, A., additional, Izbicki, J., additional, Pezzilli, R., additional, Uzunoglu, F., additional, Talar-Wojnarowska, R., additional, Goetz, M., additional, Lawlor, R., additional, Aoki, M., additional, Bueno-de-Mesquita, B., additional, Busch, O., additional, Chammas, R., additional, Tavano, F., additional, van Laarhoven, H., additional, Cavestro, G., additional, Stocker, H., additional, Bazzocchi, F., additional, Pasquali, C., additional, Chen, X., additional, Puzzono, M., additional, Ponz de Leon Pisani, R., additional, Sperti, C., additional, Lovecek, M., additional, Erőss, B., additional, Basso, D., additional, Kupcinskas, J., additional, Vanagas, T., additional, Janciauskas, D., additional, Poskiene, L., additional, Tacelli, M., additional, Duchonova, B. Mohelnikova, additional, Perri, F., additional, Latiano, A., additional, Mambrini, A., additional, Maiello, E., additional, Hegyi, P., additional, Szentesi, A., additional, Bunduc, S., additional, Hussein, T., additional, Arcidiacono, P., additional, Boggi, U., additional, Hackert, T., additional, Soucek, P., additional, Lucchesi, M., additional, Ginocchi, L., additional, Gazouli, M., additional, Zerbi, A., additional, Roth, S., additional, Jamroziak, K., additional, Carrara, S., additional, Hlavac, V., additional, Oliverius, M., additional, Neoptolemos, J., additional, Theodoropoulos, G., additional, van Eijck, C., additional, Dannemann, M., additional, Canzian, F., additional, Tofanelli, S., additional, and Campa, D., additional

Published
2022
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12. Polymorphisms in Transcription Factor Binding Sites and Enhancers as Pancreatic Ductal Adenocarcinoma Risk Factors

Author

Unal, Pelin, primary, Lu, Y., additional, Aoki, M., additional, Chammas, R., additional, Gazouli, M., additional, Theodoropoulos, G., additional, van Eijck, C., additional, Bijlsma, M., additional, Dijk, F., additional, Bueno-de-Mesquita, B., additional, Kupcinskas, J., additional, Kiudelis, V., additional, Kreivenaite, E., additional, Kondrackiene, J., additional, Malecka-Wojciesko, E., additional, Talar-Wojnarowska, R., additional, Kapszewicz, M., additional, Hegyi, P., additional, Szentesi, A., additional, Eross, B., additional, Bunduc, S., additional, Mohelnikova-Duchonova, B., additional, Soucek, P., additional, Hlavac, V., additional, Oliverius, M., additional, Vodickova, L., additional, Cervena, K., additional, Hackert, T., additional, Neoptolemos, J., additional, Goetz, M., additional, Uzunoglu, F., additional, Izbicki, J., additional, Stocker, H., additional, Schöttker, B., additional, Brenner, H., additional, Perri, F., additional, Tavano, F., additional, Palmieri, O., additional, Bazzocchi, F., additional, Maiello, E., additional, Testoni, S., additional, Petrone, M., additional, Arcidiacono, P., additional, Landi, S., additional, Ermini, S., additional, Bambi, F., additional, Boggi, U., additional, Capurso, G., additional, Archibugi, L., additional, Vanella, G., additional, Cavestro, G., additional, Morelli, L., additional, Di Franco, G., additional, Milanetto, A., additional, Sperti, C., additional, Pasquali, C., additional, Basso, D., additional, Pezzilli, R., additional, Lawlor, R., additional, Capretti, G., additional, Carrara, S., additional, Campa, D., additional, and Canzian, F., additional

Published
2022
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13. Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

Author

Sazonovs, A., Stevens, C.R., Venkataraman, G.R., Yuan, K., Avila, B., Abreu, M.T., Ahmad, T., Allez, M., Ananthakrishnan, A.N., Atzmon, G., Baras, A., Barrett, J.C., Barzilai, N., Beaugerie, L., Beecham, A., Bernstein, C.N., Bitton, A., Bokemeyer, B., Chan, A., Chung, D., Cleynen, I., Cosnes, J., Cutler, D.J., Daly, A., Damas, O.M., Datta, L.W., Dawany, N., Devoto, M., Dodge, S., Ellinghaus, E., Fachal, L., Farkkila, M., Faubion, W., Ferreira, M., Franchimont, D., Gabriel, S.B., Ge, T., Georges, M., Gettler, K., Giri, M., Glaser, B., Goerg, S., Goyette, P., Graham, D., Hamalainen, E., Haritunians, T., Heap, G.A., Hiltunen, M., Hoeppner, M., Horowitz, J.E., Irving, P., Iyer, V., Jalas, C., Kelsen, J., Khalili, H., Kirschner, B.S., Kontula, K., Koskela, J.T., Kugathasan, S., Kupcinskas, J., Lamb, C.A., Laudes, M., Levesque, C., Levine, A.P., Lewis, J.D., Liefferinckx, C., Loescher, B.S., Louis, E., Mansfield, J., May, S., McCauley, J.L., Mengesha, E., Mni, M., Moayyedi, P., Moran, C.J., Newberry, R.D., O'Charoen, S., Okou, D.T., Oldenburg, B., Ostrer, H., Palotie, A., Paquette, J., Pekow, J., Peter, I., Pierik, M.J., Ponsioen, C.Y., Pontikos, N., Prescott, N., Pulver, A.E., Rahmouni, S., Rice, D.L., Saavalainen, P., Sands, B., Sartor, R.B., Schiff, E.R., Schreiber, S., Schumm, L.P., Segal, A.W., Seksik, P., Shawky, R., Sheikh, S.Z., Silverberg, M.S., Simmons, A., Skeiceviciene, J., Sokol, H., Solomonson, M., Somineni, H., Sun, D., Targan, S., Turner, D., Uhlig, H.H., Meulen, A.E. van der, Vermeire, S., Verstockt, S., Voskuil, M.D., Winter, H.S., Young, J., Duerr, R.H., Franke, A., Brant, S.R., Cho, J., Weersma, R.K., Parkes, M., Xavier, R.J., Rivas, M.A., Rioux, J.D., McGovern, D.P.B., Huang, H.L., Anderson, C.A., Daly, M.J., Belgium IBD Consortium, Cedars-Sinai IBD, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, NIHR IBD BioResource, Regeneron Genetics Center, SHARE Consortium, SPARC IBD Network, UK IBD Genetics Consortium, Interne Geneeskunde, MUMC+: MA Maag Darm Lever (9), RS: NUTRIM - R2 - Liver and digestive health, Gastroenterology and Hepatology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, and Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

Subjects
Crohn Disease, Genetics, Humans, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Article, Genome-Wide Association Study
Abstract

Genome-wide association studies (GWASs) have identified hundreds of loci associated with Crohn's disease (CD). However, as with all complex diseases, robust identification of the genes dysregulated by noncoding variants typically driving GWAS discoveries has been challenging. Here, to complement GWASs and better define actionable biological targets, we analyzed sequence data from more than 30,000 patients with CD and 80,000 population controls. We directly implicate ten genes in general onset CD for the first time to our knowledge via association to coding variation, four of which lie within established CD GWAS loci. In nine instances, a single coding variant is significantly associated, and in the tenth, ATG4C, we see additionally a significantly increased burden of very rare coding variants in CD cases. In addition to reiterating the central role of innate and adaptive immune cells as well as autophagy in CD pathogenesis, these newly associated genes highlight the emerging role of mesenchymal cells in the development and maintenance of intestinal inflammation.Large-scale sequence-based analyses identify novel risk variants and susceptibility genes for Crohn's disease, and implicate mesenchymal cell-mediated intestinal homeostasis in disease etiology.

Published
2022

14. Management of Helicobacter pylori infection: the Maastricht VI/Florence consensus report

Author

Malfertheiner, Peter, Megraud, Francis, Rokkas, Theodore, Gisbert, Javier P., Liou, Jyh-Ming, Schulz, Christian, Gasbarrini, Antonio, Hunt, Richard H., Leja, Marcis, O’Morain, Colm, Rugge, Massimo, Suerbaum, Sebastian, Tilg, Herbert, Sugano, Kentaro, El-Omar, Emad M., Agreus, L., Bazzoli, F, Bordin, D, Loginov, A.S., Mario, F. D., Dinis-Ribeiro, M., Engstrand, Lars, Fallone, C, Goh, K.L., Graham, David, Kuipers, E.J., Kupcinskas, J., Lanas, A., Machado, Jose C., Mahachai, V., Marshall, B.J., Milosavljevic, Tomica, Moss, S.F., Park, J.Y., Niv, Y., Rajilić-Stojanović, Mirjana, Ristimaki, A, Smith, S., Tepeš, Bojan, Wu, C.Y., Zhou, L., Malfertheiner, Peter, Megraud, Francis, Rokkas, Theodore, Gisbert, Javier P., Liou, Jyh-Ming, Schulz, Christian, Gasbarrini, Antonio, Hunt, Richard H., Leja, Marcis, O’Morain, Colm, Rugge, Massimo, Suerbaum, Sebastian, Tilg, Herbert, Sugano, Kentaro, El-Omar, Emad M., Agreus, L., Bazzoli, F, Bordin, D, Loginov, A.S., Mario, F. D., Dinis-Ribeiro, M., Engstrand, Lars, Fallone, C, Goh, K.L., Graham, David, Kuipers, E.J., Kupcinskas, J., Lanas, A., Machado, Jose C., Mahachai, V., Marshall, B.J., Milosavljevic, Tomica, Moss, S.F., Park, J.Y., Niv, Y., Rajilić-Stojanović, Mirjana, Ristimaki, A, Smith, S., Tepeš, Bojan, Wu, C.Y., and Zhou, L.

Abstract

elicobacter pylori Infection is formally recognised as an infectious disease, an entity that is now included in the International Classification of Diseases 11th Revision. This in principle leads to the recommendation that all infected patients should receive treatment. In the context of the wide clinical spectrum associated with Helicobacter pylori gastritis, specific issues persist and require regular updates for optimised management. The identification of distinct clinical scenarios, proper testing and adoption of effective strategies for prevention of gastric cancer and other complications are addressed. H. pylori treatment is challenged by the continuously rising antibiotic resistance and demands for susceptibility testing with consideration of novel molecular technologies and careful selection of first line and rescue therapies. The role of H. pylori and antibiotic therapies and their impact on the gut microbiota are also considered. Progress made in the management of H. pylori infection is covered in the present sixth edition of the Maastricht/ Florence 2021 Consensus Report, key aspects related to the clinical role of H. pylori infection were re-evaluated and updated. Forty-one experts from 29 countries representing a global community, examined the new data related to H. pylori infection in five working groups: (1) indications/associations, (2) diagnosis, (3) treatment, (4) prevention/gastric cancer and (5) H. pylori and the gut microbiota. The results of the individual working groups were presented for a final consensus voting that included all participants. Recommendations are provided on the basis of the best available evidence and relevance to the management of H. pylori infection in various clinical fields.

Published
2022

15. Baseline Interleukin-6 and -8 predict response and survival in patients with advanced hepatocellular carcinoma treated with sorafenib monotherapy: an exploratory post hoc analysis of the SORAMIC trial

Author

Ocal, O., Schutte, K., Kupcinskas, J., Morkunas, E., Jurkeviciute, G., de Toni, E. N., Ben Khaled, N., Berg, T., Malfertheiner, P., Klumpen, H. J., Sengel, C., Basu, B., Valle, J. W., Benckert, J., Gasbarrini, Antonio, Palmer, D., Seidensticker, R., Wildgruber, M., Sangro, B., Pech, M., Ricke, J., Seidensticker, M., Gasbarrini A. (ORCID:0000-0002-7278-4823), Ocal, O., Schutte, K., Kupcinskas, J., Morkunas, E., Jurkeviciute, G., de Toni, E. N., Ben Khaled, N., Berg, T., Malfertheiner, P., Klumpen, H. J., Sengel, C., Basu, B., Valle, J. W., Benckert, J., Gasbarrini, Antonio, Palmer, D., Seidensticker, R., Wildgruber, M., Sangro, B., Pech, M., Ricke, J., Seidensticker, M., and Gasbarrini A. (ORCID:0000-0002-7278-4823)

Abstract

Purpose: To explore the potential correlation between baseline interleukin (IL) values and overall survival or objective response in patients with hepatocellular carcinoma (HCC) receiving sorafenib. Methods: A subset of patients with HCC undergoing sorafenib monotherapy within a prospective multicenter phase II trial (SORAMIC, sorafenib treatment alone vs. combined with Y90 radioembolization) underwent baseline IL-6 and IL-8 assessment before treatment initiation. In this exploratory post hoc analysis, the best cut-off points for baseline IL-6 and IL-8 values predicting overall survival (OS) were evaluated, as well as correlation with the objective response. Results: Forty-seven patients (43 male) with a median OS of 13.8 months were analyzed. Cut-off values of 8.58 and 57.9 pg/mL most effectively predicted overall survival for IL-6 and IL-8, respectively. Patients with high IL-6 (HR, 4.1 [1.9–8.9], p < 0.001) and IL-8 (HR, 2.4 [1.2–4.7], p = 0.009) had significantly shorter overall survival than patients with low IL values. Multivariate analysis confirmed IL-6 (HR, 2.99 [1.22–7.3], p = 0.017) and IL-8 (HR, 2.19 [1.02–4.7], p = 0.044) as independent predictors of OS. Baseline IL-6 and IL-8 with respective cut-off values predicted objective response rates according to mRECIST in a subset of 42 patients with follow-up imaging available (IL-6, 46.6% vs. 19.2%, p = 0.007; IL-8, 50.0% vs. 17.4%, p = 0.011). Conclusion: IL-6 and IL-8 baseline values predicted outcomes of sorafenib-treated patients in this well-characterized prospective cohort of the SORAMIC trial. We suggest that the respective cut-off values might serve for validation in larger cohorts, potentially offering guidance for improved patient selection.

Published
2022

17. Bridging the equity gap in patient education: the biliary tract cancer BABEL project

Author

Prete, MG, González Romero, F, Castro, RE, Banales, JM, Cardinale, V, Morement, H, Milne, J, Krawczyk, M, Krupa, L, Anwar, MM, Poles, ES, Merz, V, Perra, T, Porcu, A, Megdanova, V, Popova, Y, Meneses-Medina, MI, Reyes Mondragón, AL, Burguete-Torres, A, Brandão Rego, I, Magalhães, J, Liz Pimenta, J, Silva, J, João Sousa, M, Custódio, S, Costa, T, Cojocaru, FD, Drug, VL, Hassan, SU, Ain Azam, NU, Kupcinskas, J, Kreivenaite, E, Morkunas, E, Nikolaieva, O, Calvisi, D, Evert, M, Terhuja, N, Das, A, Hoang, KD, Nguyen, HH, Evseev, V, Khuntikeo, N, Abdihamid, O, Mariamidze, E, Tsiklauri, K, Koyyala, VPB, Medisetty, P, Digumarti, L, Digumarti, RR, Konkalla, VLA, Mitra, S, Sud, R, Parikh, P, Gupta, SK, Sen, S, Chanda, S, das, D, Domadia, K, Goyal, P, Goyal, S, Dhamne, N, Acharya, PV, Jain, P, Sharma, M, War, GA, Singh, SR, Dodagoudar, C, Patnaik, RS, Mashahary, SS, Paul, R, Kannan, T, Goel, V, Patnaik, N, Jajodia, A, Pasricha, S, Gupta, M, Agarwal, C, Mondal, DK, BP, A, Joga, S, Mullapally, SK, Choudhary, P, Saini, R, Selvaraju, T, Pahwa, S, Durga, G, Maheshwari, U, Dhaka, S, Lindsay, S, Omar, A, La Casta Muñoa, A, Casolino, Raffaella, and Braconi, Chiara

Published
2022
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18. Bridging the equity gap in patient education: the biliary tract cancer BABEL project

Author

Casolino, Raffaella, primary, Braconi, Chiara, additional, Prete, MG, additional, González Romero, F, additional, Castro, RE, additional, Banales, JM, additional, Cardinale, V, additional, Morement, H, additional, Milne, J, additional, Krawczyk, M, additional, Krupa, L, additional, Anwar, MM, additional, Poles, ES, additional, Merz, V, additional, Perra, T, additional, Porcu, A, additional, Megdanova, V, additional, Popova, Y, additional, Meneses-Medina, MI, additional, Reyes Mondragón, AL, additional, Burguete-Torres, A, additional, Brandão Rego, I, additional, Magalhães, J, additional, Liz Pimenta, J, additional, Silva, J, additional, João Sousa, M, additional, Custódio, S, additional, Costa, T, additional, Cojocaru, FD, additional, Drug, VL, additional, Hassan, SU, additional, Ain Azam, NU, additional, Kupcinskas, J, additional, Kreivenaite, E, additional, Morkunas, E, additional, Nikolaieva, O, additional, Calvisi, D, additional, Evert, M, additional, Terhuja, N, additional, Das, A, additional, Hoang, KD, additional, Nguyen, HH, additional, Evseev, V, additional, Khuntikeo, N, additional, Abdihamid, O, additional, Mariamidze, E, additional, Tsiklauri, K, additional, Koyyala, VPB, additional, Medisetty, P, additional, Digumarti, L, additional, Digumarti, RR, additional, Konkalla, VLA, additional, Mitra, S, additional, Sud, R, additional, Parikh, P, additional, Gupta, SK, additional, Sen, S, additional, Chanda, S, additional, das, D, additional, Domadia, K, additional, Goyal, P, additional, Goyal, S, additional, Dhamne, N, additional, Acharya, PV, additional, Jain, P, additional, Sharma, M, additional, War, GA, additional, Singh, SR, additional, Dodagoudar, C, additional, Patnaik, RS, additional, Mashahary, SS, additional, Paul, R, additional, Kannan, T, additional, Goel, V, additional, Patnaik, N, additional, Jajodia, A, additional, Pasricha, S, additional, Gupta, M, additional, Agarwal, C, additional, Mondal, DK, additional, BP, A, additional, Joga, S, additional, Mullapally, SK, additional, Choudhary, P, additional, Saini, R, additional, Selvaraju, T, additional, Pahwa, S, additional, Durga, G, additional, Maheshwari, U, additional, Dhaka, S, additional, Lindsay, S, additional, Omar, A, additional, and La Casta Muñoa, A, additional

Published
2022
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19. Comparison of the effectiveness of Helicobacter pylori eradication regimens between the elderly and non-elderly populations: data from the European registry on H. pylori management (HP- EUREG)

Author

Jonaitis, P., Kupcinskas, J., Pérez-Aísa, Á., Vaira, D., Tepes, B., Bordin, D., Bujanda, L., Denkovski, M., Lanas, A., Leja, M., Babayeva, G., Lerang, F., Tonkić, Ante, Nyssen, O. P., Moreira, L., Puig, I., Mégraud, F., O’Morain, C., Gisbert, J. P., and Jonaitis, L.

Subjects
Helicobacter pylori
Abstract

Objective: It is important to assess the treatment efficacy and differences between the elderly and non-elderly populations. The aim of the study is to compare the efficacy of first- and second-line H. pylori eradication regimens between the elderly and non-elderly. Materials and Methods: European multicenter registry of H. pylori infection management (Hp- EuReg) collecting data until 2022. Subjects were divided into the non-elderly (18-59 years) and elderly (≥60 years) groups. Per- Protocol (PP) and modified Intention-To-Treat (mITT) analyses were performed. Results: Overall 34, 994 (71%) non-elderly and 14, 467 (29%) elderly patients were included. In first- and second-line treatment, quadruple therapies were prescribed in 45% and 51% of the cases, respectively, whereas triple therapies in 44% in both lines. The overall first-line treatment effectiveness was 89% by PP and 88% by mITT in the non-elderly, and 90% by PP and 89% by mITT in the elderly (p0.05). The main 6 regimens by line and their effectiveness are reported in Table 1. The elderly group was associated with significantly higher overall mITT eradication rate in the first-line treatment. Conclusions: The overall effectiveness and the effectiveness of most frequent first- and second- line H. pylori eradication regimens in Europe is suboptimal (90%) was achieved with quadruple therapies. No clinically relevant differences between elderly and non-elderly patients were observed.

Published
2022

20. Exploring the Neandertal legacy of pancreatic ductal adenocarcinoma risk in Eurasians

Author

Gentiluomo, M. Piccardi M., Bertoncini, S., Costello, E., Morelli, L., Landi, S., Milanetto, A. C., Schöttker, B., Di Franco, G., Ermini, S., Scarpa, A., Izbicki, J., Pezzilli, R., Uzunoglu, F., Talar-Wojnarowska, R., Goetz, M., Lawlor, R., Aoki, M., Bueno-de-Mesquita, B., Busch, O., Chammas, R., Tavano, F., van Laarhoven, H., Cavestro, G., Stocker, H., Bazzocchi, F., Pasquali, C., Chen, X., Puzzono, M., Ponz de Leon Pisani, R., Brenner, H., Vodickova, L., Sperti, C., Lovecek, L., Erőss, B., Basso, D., Kupcinskas, J., Vanagas, T., Janciauskas, D., Poskiene, L., Tacelli, M., Mohelnikova Duchonova, B., Capurso, G., Perri, F., Latiano, A., Mambrini, A., Maiello, E., Hegyi, P., Szentesi, A., Bunduc, S., Hussein, T., Arcidiacono, P., Boggi, U., Hackert, T., Archibugi, L., Soucek, P., Vanella, G., Lucchesi, M., Ginocchi, L., Gazouli, M., Zerbi, A., Roth, S., Jamroziak, K., Carrara, S., Hlavac, V., Oliverius, M., Neoptolemos, J., Theodoropoulos, G., van Eijck, C., Dannemann, M., Canzian, F., Tofanelli, S., and Campa, D.

Published
2022

21. Polymorphisms in transcription factor binding sites and enhancers as pancreatic ductal adenocarcinoma risk factors

Author

Unal, P., Lu, Y., Aoki, M., Chammas, R., Gazouli, M., Theodoropoulos, G., van Eijck, C., Bijlsma, M., Dijk, F., Bueno-de-Mesquita, B., Kupcinskas, J., Kiudelis, V., Kreivenaite, E., Kondrackiene, J., Malecka-Wojciesko, E., Talar-Wojnarowska, R., Kapszewicz, M., Hegyi, P., Szentesi, A., Eross, B., Bunduc, S., Mohelnikova-Duchonova, B., Soucek, P., Hlavac, V., Oliverius, M., Vodickova, L., Cervena, K., Hackert, T., Neoptolemos, J., Goetz, M., Uzunoglu, F., Izbicki, J., Stocker, H., Schöttker, B., Brenner, H., Perri, F., Tavano, F., Palmieri, O., Bazzocchi, F., Maiello, E., Testoni, S., Petrone, M., Arcidiacono, P., Landi, S., Ermini, S., Bambi, F., Boggi, U., Capurso, G., Archibugi, L., Vanella, G., Cavestro, G., Morelli, L., Di Franco, G., Milanetto, A. C., Sperti, C., Pasquali, C., Basso, D., Pezzilli, R., Lawlor, R., Capretti, G., Carrara, S., Campa, D., and Canzian, F.

Subjects
Hepatology, Endocrinology, Diabetes and Metabolism, Gastroenterology
Published
2022

22. Differences of Helicobacter pylori diagnostics and treatment in the elderly and non-elderly populations: data from European registry on H. pylori management (HP-EUREG)

Author

Jonaitis, P., Kupcinskas, J., Pérez-Aísa, Á., Vaira, D., Tepes, B., Bordin, D., Bujanda, L., Denkovski, M., Lanas, A., Leja, M., Babayeva, G., Lerang, F., Tonkić, Ante, Nyssen, O. P., Moreira, L., Puig, I., Mégraud, F., O’Morain, C., Gisbert, J. P., and Jonaitis, L.

Subjects
Helicobacter pylori
Abstract

Objective: There might be some peculiarities in the diagnostics and treatment of H. pylori in the elderly population. The aim of the study was to compare the demographics, diagnostics and treatments of H. pylori infection in the elderly (≥60 years) and non-elderly (18-59 years). Patients and Methods: European multicenter registry of H. pylori infection management (Hp- EuReg) collecting data until 2022. Subjects were divided into the non-elderly (18-59 years) and elderly (≥60 years) groups. Results: Results are presented in Table 1. 14, 467 elderly and 34, 994 non-elderly patients were included. Elderly patients had more concurrent medications and drug allergies (p

Published
2022

23. Empirical Second-Line Therapy in 5,000 Patients of the European Registry on Helicobacter pylori Management (Hp-EuReg)

Author

Nyssen OP, Vaira D, Pérez Aísa Á, Rodrigo L, Castro-Fernandez M, Jonaitis L, Tepes B, Vologzhanina L, Caldas M, Lanas A, Lucendo AJ, Bujanda L, Ortuño J, Barrio J, Huguet JM, Voynovan I, Lasala JP, Sarsenbaeva AS, Fernandez-Salazar L, Molina-Infante J, Jurecic NB, Areia M, Gasbarrini A, Kupcinskas J, Bordin D, Marcos-Pinto R, Lerand F, Leja M, Buzas GM, Niv Y, Rokkas T, Phull P, Smith S, Shvets O, Venerito M, Milivojevic V, Simsek I, Lamy V, Bytzer P, Boyanova L, Kunovský L, Beglinger C, Doulberis M, Marlicz W, Goldis A, Tonkic A, Capelle L, Puig I, Megraud F, Morain CO, Gisbert JP, and European Registry on Helicobacter pylori Management Hp-EuReg Investigators

Subjects
Helicobacter pylori, Clarithromycin, Rescue, Levofloxacin, Bismuth
Abstract

BACKGROUND & AIMS: After a first Helicobacter pylori eradication attempt, approximately 20% of patients will remain infected. The aim of the current study was to assess the effectiveness and safety of second-line empiric treatment in Europe. METHODS: This international, multicenter, prospective, noninterventional registry aimed to evaluate the decisions and outcomes of H pylori management by European gastroenterologists. All infected adult cases with a previous eradication treatment attempt were registered with the Spanish Association of Gastroenterology-Research Electronic Data Capture until February 2021. Patients allergic to penicillin and those who received susceptibility-guided therapy were excluded. Data monitoring was performed to ensure data quality. RESULTS: Overall, 5055 patients received empiric second-line treatment. Triple therapy with amoxicillin and levofloxacin was prescribed most commonly (33%). The overall effectiveness was 82% by modified intention-to-treat analysis and 83% in the per-protocol population. After failure of first-line clarithromycin-containing treatment, optimal eradication (>90%) was obtained with moxifloxacin-containing triple therapy or levofloxacin-containing quadruple therapy (with bismuth). In patients receiving triple therapy containing levofloxacin or moxifloxacin, and levofloxacin-bismuth quadruple treatment, cure rates were optimized with 14-day regimens using high doses of proton pump inhibitors. However, 3-in-1 single capsule or levofloxacin-bismuth quadruple therapy produced reliable eradication rates regardless of proton pump inhibitor dose, duration of therapy, or previous first-line treatment. The overall incidence of adverse events was 28%, and most (85%) were mild. Three patients developed serious adverse events (0.3%) requiring hospitalization. CONCLUSIONS: Empiric second-line regimens including 14-day quinolone triple therapies, 14-day levofloxacin-bismuth quadruple therapy, 14-day tetracycline-bismuth classic quadruple therapy, and 10-day bismuth quadruple therapy (as a single capsule) provided optimal effectiveness. However, many other second-line treatments evaluated reported low eradication rates. ClincialTrials.gov number: NCT02328131.

Published
2022

24. Effectiveness of treatments against Helicobacter pylori according to resistance to clarithromycin: data from the European registry on Helicobacter pylori management (HP-EUREG)

Author

L. Bujanda Fernández de Piérola, O. Perez Nyssen, J. Ramos, D.S. Bordin, B. Tepeš, Á. Pérez-Aísa, B. Vaira, M. Caldas Álvarez, M. Castro Fernandez, F. Lerang, M. Leja, L.R. Rodrigo Sáez, T. Rokkas, L. Kupcinskas, J. Perez-Lasala, L. Jonaitis, O. Shvets, A. Gasbarrini, I. Simsek, P. Phull, G.M. Buzás, J.C.L. Machado, Y. Niv, L. Boyanova, E.D. Dobru, V. Lamy, Ante Tonkić, W. Marlicz, C. Beglinger, M. Venerito, P. Bytzer, L. Capelle, T. Milosavljevic, L. Vologhzanina, G. Fadeenko, G. Fiorini, E. Resina Sierra, R. Muñoz González, A. Cano-Catalá, I. Puig, F. Mégraud, C. O‘Morain, J. Gisbert

Subjects
Helicobacter pylori, clarithromycin, resistance
Abstract

Introduction: Antibiotic resistance is the main factor influencing the ef-ficacy of treatments to eradicate the infection by Helicobacter pylori (H. pylori). The treatments including clarithromycin are the most frequently used in first-line ; however, the bacterial resistance to clarithromycin in treatment-naïve patients in Europe is, overall, >20%.Aims & Methods: To assess the effectiveness of first-line H. pylori treat- ments in Europe according to the resistance to clarithromycin.Non-interventional, prospective, multicenter, international European re-gistry on the management of H. pylori (Hp-EuReg). All culture-diagnosed infected adult patients were registered at AEG-REDCap e-CRF from 2013 to 2021. Per-protocol (PP) analysis was performed based on the presence or absence of bacterial resistance to clarithromycin in treatment-naïve pati-ents. The data was subject to quality control.Results: In total, 2, 479 culture-naïve patients were included. Of these, 627 (25%) reported resistance to clarithromycin. The eradication rate with the standard triple therapy (PPI+clarithromycin+amoxicillin) in patients susceptible to clarithromycin was 92% (424/460). The eradication rate in these clarithromycin-susceptible patients was higher both with the con-comitant regimen (PPI+clarithromycin+amoxicillin+metronidazole) and with the sequential treatment with tinidazole (95%, 882/929), and also with the bismuth quadruple regimen (PPI+bismuth+tetracycline+metronidazole) as single capsule (100%, 67/67) (p

Published
2022

27. P569 Fecal Microbiome Transplantation for Recurrent C. difficile Colitis: Treatment Efficacy, Short and Long-term Follow-up Results from Consecutive Case Series

Author

Urbonas, T, primary, Ianiro, G, additional, Gedgaudas, R, additional, Sabanas, P, additional, Urba, M, additional, Kiudelis, V, additional, Kiudelis, G, additional, Petkevicius, V, additional, Vitkauskiene, A, additional, Cammarota, G, additional, Gasbarrini, A, additional, and Kupcinskas, J, additional

Published
2022
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28. The DICA Endoscopic Classification for Diverticular Disease of the Colon Shows a Significant Interobserver Agreement among Community Endoscopists: an International Study

Author

Tursi A., Brandimarte G., Di Mario F., Lanas A., Scarpignato C., Bafutto M., Barbara G., Bassotti G., Binda G. A., Biondi A., Biondo S., Cassieri C., Crucitti A., Dumitrascu D. L., Elisei W., Escalante R., Herszenyi L., Kruis W., Kupcinskas J., Lahat A., Lecca P. G., Maconi G., Malfertheiner P., Mazzarri A., Mearin F., Milosavljevic T., Nardone G., de Oliveira E. C., Papa A., Papagrigoriadis S., Pera M., Persiani R., Picchio M., Regula J., Stimac D., Stollman N., Strate L. L., Walker M. M. D., Allegretta L., Altavilla N., Amaro P., Annunziata M. L., Barberio F., Basile G., Bedogni G., Belfiori V., Benvenuti S., Bertolami C., Bisello M., El Dammak M. B., Bozzi R., Buono M., Cambie G., Capezzuto E., Casamassima C., Chavoushian A., Ciofani R., Citarella C., Compare D., Cotruta B., D'amico F., Dulk M. D., Dyrda B. E., Festa V., Gallina S., Grasso R., Hanzel J., Taieb J. M., Lai M. A., Latella G., Lisi D., Lodi L., Marangi S., Mardegan A., Marlicz W., Maurano A., Milazzo G., Militaru V., Miraglia S., Monica F., Moskalev A., Natale A., Nicolas C., Pancetti A., Penna A., Pepe A. S., Pisano M., Pontone S., Prati M., Prisco A., Rando L., Hernandez E. R., Rosati O., Rossi G., Passoni G. R., Papa V., Nesme N. S., Schiffino L., Schillaci D., Selvaggi G., Taborchi F., Tornar A., Trebuna F., Triggiani C., Testai F. V., Vassallo R., Violi A., Tursi, A., Brandimarte, G., Di Mario, F., Lanas, A., Scarpignato, C., Bafutto, M., Barbara, G., Bassotti, G., Binda, G. A., Biondi, A., Biondo, S., Cassieri, C., Crucitti, A., Dumitrascu, D. L., Elisei, W., Escalante, R., Herszenyi, L., Kruis, W., Kupcinskas, J., Lahat, A., Lecca, P. G., Maconi, G., Malfertheiner, P., Mazzarri, A., Mearin, F., Milosavljevic, T., Nardone, G., de Oliveira, E. C., Papa, A., Papagrigoriadis, S., Pera, M., Persiani, R., Picchio, M., Regula, J., Stimac, D., Stollman, N., Strate, L. L., Walker, M. M. D., Allegretta, L., Altavilla, N., Amaro, P., Annunziata, M. L., Barberio, F., Basile, G., Bedogni, G., Belfiori, V., Benvenuti, S., Bertolami, C., Bisello, M., El Dammak, M. B., Bozzi, R., Buono, M., Cambie, G., Capezzuto, E., Casamassima, C., Chavoushian, A., Ciofani, R., Citarella, C., Compare, D., Cotruta, B., D'Amico, F., Dulk, M. D., Dyrda, B. E., Festa, V., Gallina, S., Grasso, R., Hanzel, J., Taieb, J. M., Lai, M. A., Latella, G., Lisi, D., Lodi, L., Marangi, S., Mardegan, A., Marlicz, W., Maurano, A., Milazzo, G., Militaru, V., Miraglia, S., Monica, F., Moskalev, A., Natale, A., Nicolas, C., Pancetti, A., Penna, A., Pepe, A. S., Pisano, M., Pontone, S., Prati, M., Prisco, A., Rando, L., Hernandez, E. R., Rosati, O., Rossi, G., Passoni, G. R., Papa, V., Nesme, N. S., Schiffino, L., Schillaci, D., Selvaggi, G., Taborchi, F., Tornar, A., Trebuna, F., Triggiani, C., Testai, F. V., Vassallo, R., Violi, A., Tursi A., Brandimarte G., Di Mario F., Lanas A., Scarpignato C., Bafutto M., Barbara G., Bassotti G., Binda G.A., Biondi A., Biondo S., Cassieri C., Crucitti A., Dumitrascu D.L., Elisei W., Escalante R., Herszenyi L., Kruis W., Kupcinskas J., Lahat A., Lecca P.G., Maconi G., Malfertheiner P., Mazzari A., Mearin F., Milosavljevic T., Nardone G., Chavez De Oliveira E., Papa A., Papagrigoriadis S., Pera M., Persiani R., Picchio M., Regula J., Stimac D., Stollman N., Strate L.L., and Walker M.M.

Subjects
BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, Diverticular Disease, Endoscopic classification, Video Recording, Colonoscopy, Gastroenterology, Severity of Illness Index, endoscopic classification, Diverticulum, classification, complications, Diverticular diseases, Endoscopy, methods, Colonic Diseases, 0302 clinical medicine, Community Health Services, Community Health Service, Observer Variation, 0303 health sciences, medicine.diagnostic_test, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, agreement − colonoscopy − community setting − diverticular disease of the colon− endoscopic classification, 3. Good health, Diverticulosis, Malalties del còlon, Diverticular disease of the colon, Diverticular disease, 616.344-007.64 [udc], Community setting, 030211 gastroenterology & hepatology, Human, medicine.medical_specialty, Scoring system, Colonic Disease, Settore MED/12 - GASTROENTEROLOGIA, Reproducibility of Result, agreement, colonoscopy, community setting, diverticular disease of the colon, Agreement, 03 medical and health sciences, Internal medicine, Severity of illness, medicine, Diverticulosis, Colonic, Humans, Colonic diseases, 030304 developmental biology, Diverticular Diseases, business.industry, Colonoscòpia, Reproducibility of Results, medicine.disease, Inter-rater reliability, business, Kappa
Abstract

Background and Aims: The Diverticular Inflammation and Complication Assessment (DICA) endoscopic classification of diverticulosis and diverticular disease (DD) is currently available. It scores severity of the disease as DICA 1, DICA 2 and DICA 3. Our aim was to assess the agreement on this classification in an international endoscopists community setting. Methods: A total of 96 doctors (82.9% endoscopists) independently scored a set of DD endoscopic videos. The percentages of overall agreement on DICA score and a free-marginal multirater kappa (κ) coefficient were reported as statistical measures of interrater agreement. Results: Overall agreement in using DICA was 91.8% with a free-marginal kappa of 88% (95% CI 80-95). The overall agreement levels were: DICA 1, 85.2%; DICA 2, 96.5%; DICA 3, 99.5%. The free marginal κ was: DICA 1 = 0.753, DICA 2 = 0.958, DICA 3 = 0.919. The agreement about the main endoscopic items was 83.4% (k 67%) for diverticular extension, 62.6% (k 65%) for number of diverticula for each district, 86.8% (k 82%) for presence of inflammation, and 98.5 (k 98%) for presence of complications. Conclusions: The overall interrater agreement in this study ranges from good to very good. DICA score is a simple and reproducible endoscopic scoring system for diverticulosis and DD.

Published
2019

29. Association of genetic variants affecting microRNAs and pancreatic cancer risk

Author

Lu, Y., Corradi, C., Gentiluomo, M., Theodoropoulos, G.E., Roth, S., Maiello, E., Morelli, L., L.Archibugi, Izbicki, J.R., Sarlós, P., Kiudelis, V., Oliverius, M., López de Maturana, E., Aoki, M.N., Vashist, Y., van Eijck, C.H.J., Gazouli, M., Talar-Wojnarowska, R., Mambrini, A., Pezzilli, R., Bueno-de-Mesquita, B., Hegyi, P., Souček, P., Neoptolemos, J., Di Franco, G., Sperti, C., Kauffmann, E.F., Hlaváč, V., Uzunoğlu, F.G., Ermini, S., Małecka-Panas, E., Lucchesi, M., Vanella, G., Dijk, F., Mohelníková-Duchoňová, B., Bambi, F., Petrone, M.C., Jamroziak, K., Guo, F., Kolarova, K., Capretti, G., Milanetto, A.C., Ginocchi, L., Loveček, M., Puzzono, M., van Laarhoven, H.W.M., Carrara, S., Ivanauskas, A., Papiris, K., Basso, D., Arcidiacono, P.G., Izbéki, F., Chammas, R., Vodicka, P., Hackert, T., Pasquali, C., Piredda, M.L., Costello-Goldring, E., Cavestro, G.M., Szentesi, A., Tavano, F., Włodarczyk, B., Brenner, H., Kreivenaite, E., Gao, X., Bunduc, S., Schneider, M.A., Latiano, A., Gioffreda, D., Testoni, S.G.G., Malats, N., Kupcinskas, J., Lawlor, R.T., Capurso, G., Campa, D., and Canzian, F.

Published
2021
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30. Lack of association of CD44-rs353630 and CHI3L2-rs684559 with pancreatic ductal adenocarcinoma survival

Author

Corradi, C., primary, Gentiluomo, M., additional, Vanella, G., additional, Johansen, A.Z., additional, Loos, M., additional, Szentesi, A., additional, Milanetto, A.C., additional, Hegyi, P., additional, Kupcinskas, J., additional, Tavano, F., additional, Schneider, M., additional, Bozzato, D., additional, Neoptolemos, J.P., additional, Hackert, T., additional, Pezzilli, R., additional, Johansen, J.S., additional, Costello, E., additional, Mohelnikova-Duchonova, B., additional, van Eijck, C.H.J., additional, Talar-Wojnarowska, R., additional, Hansen, C. Palnæs, additional, Darvasi, E., additional, Chen, I.M., additional, Cavestro, G.M., additional, Soucek, P., additional, Piredda, L., additional, Vodicka, P., additional, Gazouli, M., additional, Arcidiacono, P.G., additional, Canzian, F., additional, Campa, D., additional, and Capurso, G., additional

Published
2021
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31. Genome-wide scan of long noncoding RNA single nucleotide polymorphisms and pancreatic cancer susceptibility

Author

Corradi, C. Gentiluomo, M. Gajdán, L. Cavestro, G.M. Kreivenaite, E. Di Franco, G. Sperti, C. Giaccherini, M. Petrone, M.C. Tavano, F. Gioffreda, D. Morelli, L. Soucek, P. Andriulli, A. Izbicki, J.R. Napoli, N. Małecka-Panas, E. Hegyi, P. Neoptolemos, J.P. Landi, S. Vashist, Y. Pasquali, C. Lu, Y. Cervena, K. Theodoropoulos, G.E. Moz, S. Capurso, G. Strobel, O. Carrara, S. Hackert, T. Hlavac, V. Archibugi, L. Oliverius, M. Vanella, G. Vodicka, P. Arcidiacono, P.G. Pezzilli, R. Milanetto, A.C. Lawlor, R.T. Ivanauskas, A. Szentesi, A. Kupcinskas, J. Testoni, S.G.G. Lovecek, M. Nentwich, M. Gazouli, M. Luchini, C. Zuppardo, R.A. Darvasi, E. Brenner, H. Gheorghe, C. Jamroziak, K. Canzian, F. Campa, D.

Abstract

Pancreatic ductal adenocarcinoma (PDAC) is projected to become the second cancer-related cause of death by 2030. Identifying novel risk factors, including genetic risk loci, could be instrumental in risk stratification and implementation of prevention strategies. Long noncoding RNAs (lncRNAs) are involved in regulation of key biological processes, and the possible role of their genetic variability has been unexplored so far. Combining genome wide association studies and functional data, we investigated the genetic variability in all lncRNAs. We analyzed 9893 PDAC cases and 9969 controls and identified a genome-wide significant association between the rs7046076 SNP and risk of developing PDAC (P = 9.73 × 10−9). This SNP is located in the NONHSAG053086.2 (lnc-SMC2-1) gene and the risk allele is predicted to disrupt the binding of the lncRNA with the micro-RNA (miRNA) hsa-mir-1256 that regulates several genes involved in cell cycle, such as CDKN2B. The CDKN2B region is pleiotropic and its genetic variants have been associated with several human diseases, possibly though an imperfect interaction between lncRNA and miRNA. We present a novel PDAC risk locus, supported by a genome-wide statistical significance and a plausible biological mechanism. © 2021 UICC

Published
2021

32. Lack of association of CD44-rs353630 and CHI3L2-rs684559 with pancreatic ductal adenocarcinoma survival

Author

Gentiluomo, M. Corradi, C. Vanella, G. Johansen, A.Z. Strobel, O. Szentesi, A. Milanetto, A.C. Hegyi, P. Kupcinskas, J. Tavano, F. Neoptolemos, J.P. Bozzato, D. Hackert, T. Pezzilli, R. Johansen, J.S. Costello, E. Mohelnikova-Duchonova, B. van Eijck, C.H.J. Talar-Wojnarowska, R. Hansen, C.P. Darvasi, E. Chen, I.M. Cavestro, G.M. Soucek, P. Piredda, L. Vodicka, P. Gazouli, M. Arcidiacono, P.G. Canzian, F. Campa, D. Capurso, G.

Abstract

Although pancreatic ductal adenocarcinoma (PDAC) survival is poor, there are differences in patients’ response to the treatments. Detection of predictive biomarkers explaining these differences is of the utmost importance. In a recent study two genetic markers (CD44-rs353630 and CHI3L2-rs684559) were reported to be associated with survival after PDAC resection. We attempted to replicate the associations in 1856 PDAC patients (685 resected with stage I/II) from the PANcreatic Disease ReseArch (PANDoRA) consortium. We also analysed the combined effect of the two genotypes in order to compare our results with what was previously reported. Additional stratified analyses considering TNM stage of the disease and whether the patients received surgery were also performed. We observed no statistically significant associations, except for the heterozygous carriers of CD44-rs353630, who were associated with worse OS (HR = 5.01; 95% CI 1.58–15.88; p = 0.006) among patients with stage I disease. This association is in the opposite direction of those reported previously, suggesting that data obtained in such small subgroups are hardly replicable and should be considered cautiously. The two polymorphisms combined did not show any statistically significant association. Our results suggest that the effect of CD44-rs353630 and CHI3L2-rs684559 cannot be generalized to all PDAC patients. © 2021, The Author(s).

Published
2021

33. Association of Genetic Variants Affecting microRNAs and Pancreatic Cancer Risk

Author

Sub ISEP overig, IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Lu, Y., Corradi, C., Gentiluomo, M., López de Maturana, E., Theodoropoulos, G.E., Roth, S., Maiello, E., Morelli, L., Archibugi, L., Izbicki, J.R., Sarlós, P., Kiudelis, V., Oliverius, M., Aoki, M.N., Vashist, Y., van Eijck, C.H.J., Gazouli, M., Talar-Wojnarowska, R., Mambrini, A., Pezzilli, R., Bueno-de-Mesquita, B., Hegyi, P., Souček, P., Neoptolemos, J.P., Di Franco, G., Sperti, C., Kauffmann, E.F., Hlaváč, V., Uzunoğlu, F.G., Ermini, S., Małecka-Panas, E., Lucchesi, M., Vanella, G., Dijk, F., Mohelníková-Duchoňová, B., Bambi, F., Petrone, M.C., Jamroziak, K., Guo, F., Kolarova, K., Capretti, G., Milanetto, A.C., Ginocchi, L., Loveček, M., Puzzono, M., van Laarhoven, H.W.M., Carrara, S., Ivanauskas, A., Papiris, K., Basso, D., Arcidiacono, P.G., Izbéki, F., Chammas, R., Vodicka, P., Hackert, T., Pasquali, C., Piredda, M.L., Costello-Goldring, E., Cavestro, G.M., Szentesi, A., Tavano, F., Włodarczyk, B., Brenner, H., Kreivenaite, E., Gao, X., Bunduc, S., Vermeulen, R.C.H., Schneider, M.A., Latiano, A., Gioffreda, D., Testoni, S.G.G., Kupcinskas, J., Lawlor, R.T., Capurso, G., Malats, N., Campa, D., Canzian, F., Sub ISEP overig, IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Lu, Y., Corradi, C., Gentiluomo, M., López de Maturana, E., Theodoropoulos, G.E., Roth, S., Maiello, E., Morelli, L., Archibugi, L., Izbicki, J.R., Sarlós, P., Kiudelis, V., Oliverius, M., Aoki, M.N., Vashist, Y., van Eijck, C.H.J., Gazouli, M., Talar-Wojnarowska, R., Mambrini, A., Pezzilli, R., Bueno-de-Mesquita, B., Hegyi, P., Souček, P., Neoptolemos, J.P., Di Franco, G., Sperti, C., Kauffmann, E.F., Hlaváč, V., Uzunoğlu, F.G., Ermini, S., Małecka-Panas, E., Lucchesi, M., Vanella, G., Dijk, F., Mohelníková-Duchoňová, B., Bambi, F., Petrone, M.C., Jamroziak, K., Guo, F., Kolarova, K., Capretti, G., Milanetto, A.C., Ginocchi, L., Loveček, M., Puzzono, M., van Laarhoven, H.W.M., Carrara, S., Ivanauskas, A., Papiris, K., Basso, D., Arcidiacono, P.G., Izbéki, F., Chammas, R., Vodicka, P., Hackert, T., Pasquali, C., Piredda, M.L., Costello-Goldring, E., Cavestro, G.M., Szentesi, A., Tavano, F., Włodarczyk, B., Brenner, H., Kreivenaite, E., Gao, X., Bunduc, S., Vermeulen, R.C.H., Schneider, M.A., Latiano, A., Gioffreda, D., Testoni, S.G.G., Kupcinskas, J., Lawlor, R.T., Capurso, G., Malats, N., Campa, D., and Canzian, F.

Published
2021

34. Association of Genetic Variants Affecting microRNAs and Pancreatic Cancer Risk

Author

Sub IER overig, IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Lu, Y., Corradi, C., Gentiluomo, M., López de Maturana, E., Theodoropoulos, G.E., Roth, S., Maiello, E., Morelli, L., Archibugi, L., Izbicki, J.R., Sarlós, P., Kiudelis, V., Oliverius, M., Aoki, M.N., Vashist, Y., van Eijck, C.H.J., Gazouli, M., Talar-Wojnarowska, R., Mambrini, A., Pezzilli, R., Bueno-de-Mesquita, B., Hegyi, P., Souček, P., Neoptolemos, J.P., Di Franco, G., Sperti, C., Kauffmann, E.F., Hlaváč, V., Uzunoğlu, F.G., Ermini, S., Małecka-Panas, E., Lucchesi, M., Vanella, G., Dijk, F., Mohelníková-Duchoňová, B., Bambi, F., Petrone, M.C., Jamroziak, K., Guo, F., Kolarova, K., Capretti, G., Milanetto, A.C., Ginocchi, L., Loveček, M., Puzzono, M., van Laarhoven, H.W.M., Carrara, S., Ivanauskas, A., Papiris, K., Basso, D., Arcidiacono, P.G., Izbéki, F., Chammas, R., Vodicka, P., Hackert, T., Pasquali, C., Piredda, M.L., Costello-Goldring, E., Cavestro, G.M., Szentesi, A., Tavano, F., Włodarczyk, B., Brenner, H., Kreivenaite, E., Gao, X., Bunduc, S., Vermeulen, R.C.H., Schneider, M.A., Latiano, A., Gioffreda, D., Testoni, S.G.G., Kupcinskas, J., Lawlor, R.T., Capurso, G., Malats, N., Campa, D., Canzian, F., Sub IER overig, IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Lu, Y., Corradi, C., Gentiluomo, M., López de Maturana, E., Theodoropoulos, G.E., Roth, S., Maiello, E., Morelli, L., Archibugi, L., Izbicki, J.R., Sarlós, P., Kiudelis, V., Oliverius, M., Aoki, M.N., Vashist, Y., van Eijck, C.H.J., Gazouli, M., Talar-Wojnarowska, R., Mambrini, A., Pezzilli, R., Bueno-de-Mesquita, B., Hegyi, P., Souček, P., Neoptolemos, J.P., Di Franco, G., Sperti, C., Kauffmann, E.F., Hlaváč, V., Uzunoğlu, F.G., Ermini, S., Małecka-Panas, E., Lucchesi, M., Vanella, G., Dijk, F., Mohelníková-Duchoňová, B., Bambi, F., Petrone, M.C., Jamroziak, K., Guo, F., Kolarova, K., Capretti, G., Milanetto, A.C., Ginocchi, L., Loveček, M., Puzzono, M., van Laarhoven, H.W.M., Carrara, S., Ivanauskas, A., Papiris, K., Basso, D., Arcidiacono, P.G., Izbéki, F., Chammas, R., Vodicka, P., Hackert, T., Pasquali, C., Piredda, M.L., Costello-Goldring, E., Cavestro, G.M., Szentesi, A., Tavano, F., Włodarczyk, B., Brenner, H., Kreivenaite, E., Gao, X., Bunduc, S., Vermeulen, R.C.H., Schneider, M.A., Latiano, A., Gioffreda, D., Testoni, S.G.G., Kupcinskas, J., Lawlor, R.T., Capurso, G., Malats, N., Campa, D., and Canzian, F.

Published
2021

35. A standardised model for stool banking for faecal microbiota transplantation: a consensus report from a multidisciplinary UEG working group

Author

Keller, J. J., Ooijevaar, R. E., Hvas, C. L., Terveer, E. M., Lieberknecht, S. C., Hogenauer, C., Arkkila, P., Sokol, H., Gridnyev, O., Megraud, F., Kump, P. K., Nakov, R., Goldenberg, S. D., Satokari, R., Tkatch, S., Sanguinetti, Maurizio, Cammarota, Giovanni, Dorofeev, A., Gubska, O., Laniro, G., Mattila, E., Arasaradnam, R. P., Sarin, S. K., Sood, A., Putignani, Lorenza, Alric, L., Baunwall, S. M. D., Kupcinskas, J., Link, A., Goorhuis, A. G., Verspaget, H. W., Ponsioen, C., Hold, G. L., Tilg, H., Kassam, Z., Kuijper, E. J., Gasbarrini, Antonio, Mulder, C. J. J., Williams, H. R. T., Vehreschild, M. J. G. T., Sanguinetti M. (ORCID:0000-0002-9780-7059), Cammarota G. (ORCID:0000-0002-3626-6148), Putignani L., Gasbarrini A. (ORCID:0000-0002-7278-4823), Keller, J. J., Ooijevaar, R. E., Hvas, C. L., Terveer, E. M., Lieberknecht, S. C., Hogenauer, C., Arkkila, P., Sokol, H., Gridnyev, O., Megraud, F., Kump, P. K., Nakov, R., Goldenberg, S. D., Satokari, R., Tkatch, S., Sanguinetti, Maurizio, Cammarota, Giovanni, Dorofeev, A., Gubska, O., Laniro, G., Mattila, E., Arasaradnam, R. P., Sarin, S. K., Sood, A., Putignani, Lorenza, Alric, L., Baunwall, S. M. D., Kupcinskas, J., Link, A., Goorhuis, A. G., Verspaget, H. W., Ponsioen, C., Hold, G. L., Tilg, H., Kassam, Z., Kuijper, E. J., Gasbarrini, Antonio, Mulder, C. J. J., Williams, H. R. T., Vehreschild, M. J. G. T., Sanguinetti M. (ORCID:0000-0002-9780-7059), Cammarota G. (ORCID:0000-0002-3626-6148), Putignani L., and Gasbarrini A. (ORCID:0000-0002-7278-4823)

Abstract

Background: Faecal microbiota transplantation is an emerging therapeutic option, particularly for the treatment of recurrent Clostridioides difficile infection. Stool banks that organise recruitment and screening of faeces donors are being embedded within the regulatory frameworks described in the European Union Tissue and Cells Directive and the technical guide to the quality and safety of tissue and cells for human application, published by the European Council. Objective: Several European and international consensus statements concerning faecal microbiota transplantation have been issued. While these documents provide overall guidance, we aim to provide a detailed description of all processes that relate to the collection, handling and clinical application of human donor stool in this document. Methods: Collaborative subgroups of experts on stool banking drafted concepts for all domains pertaining to stool banking. During a working group meeting in the United European Gastroenterology Week 2019 in Barcelona, these concepts were discussed and finalised to be included in our overall guidance document about faecal microbiota transplantation. Results: A guidance document for all domains pertaining to stool banking was created. This document includes standard operating manuals for several processes involved with stool banking, such as handling of donor material, storage and donor screening. Conclusion: The implementation of faecal microbiota transplantation by stool banks in concordance with our guidance document will enable quality assurance and guarantee the availability of donor faeces preparations for patients.

Published
2021

36. Genetic determinants of telomere length and risk of pancreatic cancer: A PANDoRA study

Author

Campa, D, Matarazzi, M, Greenhalf, W, Bijlsma, M, Saum, K-U, Pasquali, C, Van Laarhoven, H, Szentesi, A, Federici, F, Vodicka, P, Funel, N, Pezzilli, R, Bueno-De-Mesquita, HB, Vodickova, L, Basso, D, Obazee, O, Hackert, T, Soucek, P, Cuk, K, Kaiser, J, Sperti, C, Lovecek, M, Capurso, G, Mohelnikova-Duchonova, B, Khaw, K-T, König, A-K, Kupcinskas, J, Kaaks, R, Bambi, F, Archibugi, L, Mambrini, A, Cavestro, GM, Landi, S, Hegyi, P, Izbicki, JR, Gioffreda, D, Zambon, CF, Tavano, F, Talar-Wojnarowska, R, Jamroziak, K, Key, TJ, Fave, GD, Strobel, O, Jonaitis, L, Andriulli, A, Lawlor, RT, Pirozzi, F, Katzke, V, Valsuani, C, Vashist, YK, Brenner, H, Canzian, F, Campa, D., Matarazzi, M., Greenhalf, W., Bijlsma, M., Saum, K. -U., Pasquali, C., van Laarhoven, H., Szentesi, A., Federici, F., Vodicka, P., Funel, N., Pezzilli, R., Bueno-de-Mesquita, H. B., Vodickova, L., Basso, D., Obazee, O., Hackert, T., Soucek, P., Cuk, K., Kaiser, J., Sperti, C., Lovecek, M., Capurso, G., Mohelnikova-Duchonova, B., Khaw, K. -T., Konig, A. -K., Kupcinskas, J., Kaaks, R., Bambi, F., Archibugi, L., Mambrini, A., Cavestro, G. M., Landi, S., Hegyi, P., Izbicki, J. R., Gioffreda, D., Zambon, C. F., Tavano, F., Talar-Wojnarowska, R., Jamroziak, K., Key, T. J., Fave, G. D., Strobel, O., Jonaitis, L., Andriulli, A., Lawlor, R. T., Pirozzi, F., Katzke, V., Valsuani, C., Vashist, Y. K., Brenner, H., Canzian, F., Center of Experimental and Molecular Medicine, CCA - Cancer biology and immunology, Radiotherapy, Oncology, and AGEM - Re-generation and cancer of the digestive system

Subjects
Male, Cancer Research, pancreatic ductal adenocarcinoma, Polymorphism, Single Nucleotide, lymphocyte telomere length, genetic polymorphisms, association, Mendelian randomization, Oncology, Humans, genetic polymorphism, Lymphocytes, Telomerase, Telomere Shortening, Aged, Pancreatic Neoplasm, Ribonucleoprotein, Middle Aged, Telomere, Pancreatic Neoplasms, Europe, Ribonucleoproteins, Case-Control Studies, Female, Lymphocyte, Case-Control Studie, Carcinoma, Pancreatic Ductal, Genome-Wide Association Study, Human
Abstract

Telomere deregulation is a hallmark of cancer. Telomere length measured in lymphocytes (LTL) has been shown to be a risk marker for several cancers. For pancreatic ductal adenocarcinoma (PDAC) consensus is lacking whether risk is associated with long or short telomeres. Mendelian randomization approaches have shown that a score built from SNPs associated with LTL could be used as a robust risk marker. We explored this approach in a large scale study within the PANcreatic Disease ReseArch (PANDoRA) consortium. We analyzed 10 SNPs (ZNF676-rs409627, TERT-rs2736100, CTC1-rs3027234, DHX35-rs6028466, PXK-rs6772228, NAF1-rs7675998, ZNF208-rs8105767, OBFC1-rs9420907, ACYP2-rs11125529 and TERC-rs10936599) alone and combined in a LTL genetic score (“teloscore”, which explains 2.2% of the telomere variability) in relation to PDAC risk in 2,374 cases and 4,326 controls. We identified several associations with PDAC risk, among which the strongest were with the TERT-rs2736100 SNP (OR = 1.54; 95%CI 1.35–1.76; p = 1.54 × 10 −10 ) and a novel one with the NAF1-rs7675998 SNP (OR = 0.80; 95%CI 0.73–0.88; p = 1.87 × 10 −6 , p trend = 3.27 × 10 −7 ). The association of short LTL, measured by the teloscore, with PDAC risk reached genome-wide significance (p = 2.98 × 10 −9 for highest vs. lowest quintile; p = 1.82 × 10 −10 as a continuous variable). In conclusion, we present a novel genome-wide candidate SNP for PDAC risk (TERT-rs2736100), a completely new signal (NAF1-rs7675998) approaching genome-wide significance and we report a strong association between the teloscore and risk of pancreatic cancer, suggesting that telomeres are a potential risk factor for pancreatic cancer.

Published
2019

37. Genome-wide association study identifies an early onset pancreatic cancer risk locus

Author

Campa, D. Gentiluomo, M. Obazee, O. Ballerini, A. Vodickova, L. Hegyi, P. Soucek, P. Brenner, H. Milanetto, A.C. Landi, S. Gao, X. Bozzato, D. Capurso, G. Tavano, F. Vashist, Y. Hackert, T. Bambi, F. Bursi, S. Oliverius, M. Gioffreda, D. Schöttker, B. Ivanauskas, A. Mohelnikova-Duchonova, B. Darvasi, E. Pezzilli, R. Małecka-Panas, E. Strobel, O. Gazouli, M. Katzke, V. Szentesi, A. Cavestro, G.M. Farkas, G., Jr. Izbicki, J.R. Moz, S. Archibugi, L. Hlavac, V. Vincze, Á. Talar-Wojnarowska, R. Rusev, B. Kupcinskas, J. Greenhalf, B. Dijk, F. Giese, N. Boggi, U. Andriulli, A. Busch, O.R. Vanella, G. Vodicka, P. Nentwich, M. Lawlor, R.T. Theodoropoulos, G.E. Jamroziak, K. Zuppardo, R.A. Moletta, L. Ginocchi, L. Kaaks, R. Neoptolemos, J.P. Lucchesi, M. Canzian, F.

Abstract

Early onset pancreatic cancer (EOPC) is a rare disease with a very high mortality rate. Almost nothing is known on the genetic susceptibility of EOPC, therefore, we performed a genome-wide association study (GWAS) to identify novel genetic variants specific for patients diagnosed with pancreatic ductal adenocarcinoma (PDAC) at younger ages. In the first phase, conducted on 821 cases with age of onset ≤60 years, of whom 198 with age of onset ≤50, and 3227 controls from PanScan I-II, we observed four SNPs (rs7155613, rs2328991, rs4891017 and rs12610094) showing an association with EOPC risk (P < 1 × 10−4). We replicated these SNPs in the PANcreatic Disease ReseArch (PANDoRA) consortium and used additional in silico data from PanScan III and PanC4. Among these four variants rs2328991 was significant in an independent set of 855 cases with age of onset ≤60 years, of whom 265 with age of onset ≤50, and 4142 controls from the PANDoRA consortium while in the in silico data, we observed no statistically significant association. However, the resulting meta-analysis supported the association (P = 1.15 × 10−4). In conclusion, we propose a novel variant rs2328991 to be involved in EOPC risk. Even though it was not possible to find a mechanistic link between the variant and the function, the association is supported by a solid statistical significance obtained in the largest study on EOPC genetics present so far in the literature. © 2020 UICC

Published
2020

38. Donated stool for faecal microbiota transplantation is not a drug, but guidance and regulation are needed

Author

Keller, J. J., Vehreschild, M. J. G. T., Hvas, C. L., Jorgensen, S. M. D., Kupcinskas, J., Link, A., Mulder, C. J. J., Goldenberg, S. D., Arasaradnam, R., Sokol, H., Gasbarrini, Antonio, Hoegenauer, C., Terveer, E. M., Kuijper, E. J., Arkkila, P., Gasbarrini A. (ORCID:0000-0002-7278-4823), Keller, J. J., Vehreschild, M. J. G. T., Hvas, C. L., Jorgensen, S. M. D., Kupcinskas, J., Link, A., Mulder, C. J. J., Goldenberg, S. D., Arasaradnam, R., Sokol, H., Gasbarrini, Antonio, Hoegenauer, C., Terveer, E. M., Kuijper, E. J., Arkkila, P., and Gasbarrini A. (ORCID:0000-0002-7278-4823)

Abstract

N/a

Published
2020

39. Systematic review: gastric microbiota in health and disease

Author

Rajilic-Stojanovic, M., Figueiredo, C., Smet, A., Hansen, R., Kupcinskas, J., Rokkas, T., Andersen, L., Machado, J. C., Ianiro, Gianluca, Gasbarrini, Antonio, Leja, M., Gisbert, J. P., Hold, G. L., Ianiro G. (ORCID:0000-0002-8318-0515), Gasbarrini A. (ORCID:0000-0002-7278-4823), Rajilic-Stojanovic, M., Figueiredo, C., Smet, A., Hansen, R., Kupcinskas, J., Rokkas, T., Andersen, L., Machado, J. C., Ianiro, Gianluca, Gasbarrini, Antonio, Leja, M., Gisbert, J. P., Hold, G. L., Ianiro G. (ORCID:0000-0002-8318-0515), and Gasbarrini A. (ORCID:0000-0002-7278-4823)

Abstract

Background: Helicobacter pylori is the most infamous constituent of the gastric microbiota and its presence is the strongest risk factor for gastric cancer and other gastroduodenal diseases. Although historically the healthy stomach was considered a sterile organ, we now know it is colonised with a complex microbiota. However, its role in health and disease is not well understood. Aim: To systematically explore the literature on the gastric microbiota in health and disease as well as the gut microbiota after bariatric surgery. Methods: A systematic search of online bibliographic databases MEDLINE/EMBASE was performed between 1966 and February 2019 with screening in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Randomised controlled trials, cohort studies and observational studies were included if they reported next-generation sequencing derived microbiota analysis on gastric aspirate/tissue or stool samples (bariatric surgical outcomes). Results: Sixty-five papers were eligible for inclusion. With the exception of H pylori-induced conditions, overarching gastric microbiota signatures of health or disease could not be determined. Gastric carcinogenesis induces a progressively altered microbiota with an enrichment of oral and intestinal taxa as well as significant changes in host gastric mucin expression. Proton pump inhibitors usage increases gastric microbiota richness. Bariatric surgery is associated with an increase in potentially pathogenic proteobacterial species in patient stool samples. Conclusion: While H pylori remains the single most important risk factor for gastric disease, its capacity to shape the collective gastric microbiota remains to be fully elucidated. Further studies are needed to explore the intricate host/microbial and microbial/microbial interplay.

Published
2020

43. OC.08.3 THE “DICA” ENDOSCOPIC CLASSIFICATION FOR DIVERTICULAR DISEASE OF THE COLON SHOWS A SIGNIFICANT INTEROBSERVER AGREEMENT AMONG COMMUNITY ENDOSCOPISTS: AN INTERNATIONAL STUDY

Author

Tursi, A., primary, Brandimarte, G., additional, Di Mario, F., additional, Lanas, A., additional, Scarpignato, C., additional, Bafutto, M., additional, Barbara, G., additional, Bassotti, G., additional, Binda, G.A., additional, Biondi, A., additional, Biondo, S., additional, Cambiè, G., additional, Cassieri, C., additional, Crucitti, A., additional, Dumitrascu, D., additional, Elisei, W., additional, Escalante, R., additional, Herszènyi, L., additional, Kruis, W., additional, Kupcinskas, J., additional, Lahat, A., additional, Lecca, P.G., additional, Maconi, G., additional, Malfertheiner, P., additional, Mazzari, A., additional, Mearìn, F., additional, Milosavljevic, T., additional, Nardone, G., additional, Chavez De Oliveira, E., additional, Papa, A., additional, Papagrigoriadis, S., additional, Pera, M., additional, Persiani, R., additional, Picchio, M., additional, Regula, J., additional, Štimac, D., additional, Stollman, N., additional, Strate, L., additional, Violi, A., additional, and Walker, M., additional

Published
2020
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44. Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma

Author

Obazee, O., Archibugi, L., Andriulli, A., Soucek, P., Malecka-Panas, E., Ivanauskas, A., Johnson, T., Gazouli, M., Pausch, T., Lawlor, R. T., Cavestro, G. M., Milanetto, A. C., Di Leo, M., Pasquali, C., Hegyi, P., Szentesi, A., Radu, C. E., Gheorghe, C., Theodoropoulos, G. E., Bergmann, F., Brenner, H., Vodickova, L., Katzke, V., Campa, D., Strobel, O., Kaiser, J., Pezzilli, R., Federici, F., Mohelnikova-Duchonova, B., Boggi, U., Lemstrova, R., Johansen, J. S., Bojesen, S. E., Chen, I., Jensen, B. V., Capurso, G., Pazienza, V., Dervenis, C., Sperti, C., Mambrini, A., Hackert, T., Kaaks, R., Basso, D., Talar-Wojnarowska, R., Maiello, E., Izbicki, J. R., Cuk, K., Saum, K. U., Cantore, M., Kupcinskas, J., Palmieri, O., Delle Fave, G., Landi, S., Salvia, R., Fogar, P., Vashist, Y. K., Scarpa, A., Vodicka, P., Tjaden, C., Iskierka-Jazdzewska, E., Canzian, F., Obazee, O., Archibugi, L., Andriulli, A., Soucek, P., Malecka-Panas, E., Ivanauskas, A., Johnson, T., Gazouli, M., Pausch, T., Lawlor, R. T., Cavestro, G. M., Milanetto, A. C., Di Leo, M., Pasquali, C., Hegyi, P., Szentesi, A., Radu, C. E., Gheorghe, C., Theodoropoulos, G. E., Bergmann, F., Brenner, H., Vodickova, L., Katzke, V., Campa, D., Strobel, O., Kaiser, J., Pezzilli, R., Federici, F., Mohelnikova-Duchonova, B., Boggi, U., Lemstrova, R., Johansen, J. S., Bojesen, S. E., Chen, I., Jensen, B. V., Capurso, G., Pazienza, V., Dervenis, C., Sperti, C., Mambrini, A., Hackert, T., Kaaks, R., Basso, D., Talar-Wojnarowska, R., Maiello, E., Izbicki, J. R., Cuk, K., Saum, K. U., Cantore, M., Kupcinskas, J., Palmieri, O., Delle Fave, G., Landi, S., Salvia, R., Fogar, P., Vashist, Y. K., Scarpa, A., Vodicka, P., Tjaden, C., Iskierka-Jazdzewska, E., and Canzian, F.

Subjects
Male, Cancer Research, pancreatic cancer, Genes, BRCA2, I157T, Polymorphism, Single Nucleotide, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, Aged, BRCA2 Protein, K3326X, PANDoRA consortium, rs11571833, rs17879961, Oncology, Pancreatic cancer, Middle Aged, Pancreatic Neoplasms, Checkpoint Kinase 2, Case-Control Studies, Female, Carcinoma, Pancreatic Ductal
Abstract

Rare truncating BRCA2 K3326X (rs11571833) and pathogenic CHEK2 I157T (rs17879961) variants have previously been implicated in familial pancreatic ductal adenocarcinoma (PDAC), but not in sporadic cases. The effect of both mutations in important DNA repair genes on sporadic PDAC risk may shed light on the genetic architecture of this disease. Both mutations were genotyped in germline DNA from 2,935 sporadic PDAC cases and 5,626 control subjects within the PANcreatic Disease ReseArch (PANDoRA) consortium. Risk estimates were evaluated using multivariate unconditional logistic regression with adjustment for possible confounders such as sex, age and country of origin. Statistical analyses were two-sided with p values

Published
2018

45. Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma

Author

Obazee, O. Archibugi, L. Andriulli, A. Soucek, P. Małecka-Panas, E. Ivanauskas, A. Johnson, T. Gazouli, M. Pausch, T. Lawlor, R.T. Cavestro, G.M. Milanetto, A.C. Di Leo, M. Pasquali, C. Hegyi, P. Szentesi, A. Radu, C.E. Gheorghe, C. Theodoropoulos, G.E. Bergmann, F. Brenner, H. Vodickova, L. Katzke, V. Campa, D. Strobel, O. Kaiser, J. Pezzilli, R. Federici, F. Mohelnikova-Duchonova, B. Boggi, U. Lemstrova, R. Johansen, J.S. Bojesen, S.E. Chen, I. Jensen, B.V. Capurso, G. Pazienza, V. Dervenis, C. Sperti, C. Mambrini, A. Hackert, T. Kaaks, R. Basso, D. Talar-Wojnarowska, R. Maiello, E. Izbicki, J.R. Cuk, K. Saum, K.U. Cantore, M. Kupcinskas, J. Palmieri, O. Delle Fave, G. Landi, S. Salvia, R. Fogar, P. Vashist, Y.K. Scarpa, A. Vodicka, P. Tjaden, C. Iskierka-Jazdzewska, E. Canzian, F.

Abstract

Rare truncating BRCA2 K3326X (rs11571833) and pathogenic CHEK2 I157T (rs17879961) variants have previously been implicated in familial pancreatic ductal adenocarcinoma (PDAC), but not in sporadic cases. The effect of both mutations in important DNA repair genes on sporadic PDAC risk may shed light on the genetic architecture of this disease. Both mutations were genotyped in germline DNA from 2,935 sporadic PDAC cases and 5,626 control subjects within the PANcreatic Disease ReseArch (PANDoRA) consortium. Risk estimates were evaluated using multivariate unconditional logistic regression with adjustment for possible confounders such as sex, age and country of origin. Statistical analyses were two-sided with p values

Published
2019

46. A multifactorial score for pancreatic ductal adenocarcinoma risk prediction

Author

Gentiluomo, M., Galeotti, A. A., Rizzato, C., Obazee, O., Neoptolemos, J. P., Pasquali, C., Nentwick, M., Cavestro, G. M., Pezzilli, R., Greenhalf, W., Holleczek, B., Shroeder, C., Shottker, B., Ivanauskas, A., Ginocchi, L., Key, T. J., Hegyi, P., Archibugi, L., Darvasi, E., Basso, D., Sperti, C., Bijlisma, M. F., Palmieri, G., Hlavac, V., Talar-Wojnarowska, R., Mohelnikova – Duchonova, B., Hackert, T., Vahist, Y., Strouhal, O., van Laarhoven, C., Tavano, F., Lovecek, M., Dervenis, C., Izbeki, F., Padoan, A., Malencka-Panas, E., Maiello, E., Vanella, G., Capurso, G., Izbicki, J. R., Theodoropulos, G. E., Jamroziak, K., Katzke, V., Kaaks, R., Mambrini, A., Papanikolaou, I. S., Szentesi, A., Kupcinskas, J., Bursi, S., Costello, E., Boggi, U., Milanetto, A. C., Landi, S., Gazouli, M., Vodickova, L., Soucek, P., Gioffreda, D., Gemignani, F., Brenner, H., Strobel, O., Bukler, M. W., Vodicka, P., Paiella, S, Canzian, F., and Campa, D. :.

Published
2019

47. Genome-wide association study identifies an early onset pancreatic cancer risk locus

Author

Gentiluomo, M., Obazee, O., Ballerini, A., Vodickova, L., Hegyi, P., Soucek, P., Brenner, H., Milanetto, A. C., Landi, S., Gao, X., Bozzato, D., Capurso, G., Tavano, F., Vashist, Y., Hackert, T., Bambi, F., Bursi, S., Oliverius, M., Gioffreda, D., Schöttker, B., Ivanauskas, A., Mohelnikova-Duchonova, B., Darvasi, E., Pezzilli, R., Małecka-Panas, E., Strobel, O., Gazouli, M., Katzke, V., Szentesi, A., Cavestro, G. M., Farkas, G. Jr., Izbicki, J. R., Moz, S., Archibugi, L., Hlavac, V., Vincze, A., Talar-Wojnarowska, R., Borislav, R., Kupcinskas, J., Greenhalf, B., Dijk, F., Giese, N., Boggi, U., Andriulli, A., Busch, O. R., Vanella, G., Vodicka, P., Nentwich, M., Lawlor, R. T., Theodoropoulos, G. E., Jamroziak, K., Zuppardo, R. A., Moletta, L., Ginocchi, L., Kaaks, R., Neoptolemos, J. P., Lucchesi, M., Canzian, F., and Campa, D.

Published
2019

48. Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma

Author

Obazee, O, Archibugi, L, Andriulli, A, Soucek, P, Małecka-Panas, E, Ivanauskas, A, Johnson, T, Gazouli, M, Pausch, T, Lawlor, R T, Cavestro, G M, Milanetto, A C, Di Leo, M, Pasquali, C, Hegyi, P, Szentesi, A, Radu, C E, Gheorghe, C, Theodoropoulos, G E, Bergmann, F, Brenner, H, Vodickova, L, Katzke, V, Campa, D, Strobel, O, Kaiser, J, Pezzilli, R, Federici, F, Mohelnikova-Duchonova, B, Boggi, U, Lemstrova, R, Johansen, J S, Bojesen, S E, Chen, I, Jensen, B V, Capurso, G, Pazienza, V, Dervenis, C, Sperti, C, Mambrini, A, Hackert, T, Kaaks, R, Basso, D, Talar-Wojnarowska, R, Maiello, E, Izbicki, J R, Cuk, K, Saum, K U, Cantore, M, Kupcinskas, J, Palmieri, O, Delle Fave, G, Landi, S, Salvia, R, Fogar, P, Vashist, Y K, Scarpa, A, Vodicka, P, Tjaden, C, Iskierka-Jazdzewska, E, Canzian, F, Obazee, O, Archibugi, L, Andriulli, A, Soucek, P, Małecka-Panas, E, Ivanauskas, A, Johnson, T, Gazouli, M, Pausch, T, Lawlor, R T, Cavestro, G M, Milanetto, A C, Di Leo, M, Pasquali, C, Hegyi, P, Szentesi, A, Radu, C E, Gheorghe, C, Theodoropoulos, G E, Bergmann, F, Brenner, H, Vodickova, L, Katzke, V, Campa, D, Strobel, O, Kaiser, J, Pezzilli, R, Federici, F, Mohelnikova-Duchonova, B, Boggi, U, Lemstrova, R, Johansen, J S, Bojesen, S E, Chen, I, Jensen, B V, Capurso, G, Pazienza, V, Dervenis, C, Sperti, C, Mambrini, A, Hackert, T, Kaaks, R, Basso, D, Talar-Wojnarowska, R, Maiello, E, Izbicki, J R, Cuk, K, Saum, K U, Cantore, M, Kupcinskas, J, Palmieri, O, Delle Fave, G, Landi, S, Salvia, R, Fogar, P, Vashist, Y K, Scarpa, A, Vodicka, P, Tjaden, C, Iskierka-Jazdzewska, E, and Canzian, F

Abstract

Rare truncating BRCA2 K3326X (rs11571833) and pathogenic CHEK2 I157T (rs17879961) variants have previously been implicated in familial pancreatic ductal adenocarcinoma (PDAC), but not in sporadic cases. The effect of both mutations in important DNA repair genes on sporadic PDAC risk may shed light on the genetic architecture of this disease. Both mutations were genotyped in germline DNA from 2,935 sporadic PDAC cases and 5,626 control subjects within the PANcreatic Disease ReseArch (PANDoRA) consortium. Risk estimates were evaluated using multivariate unconditional logistic regression with adjustment for possible confounders such as sex, age and country of origin. Statistical analyses were two-sided with p values <0.05 considered significant. K3326X and I157T were associated with increased risk of developing sporadic PDAC (odds ratio (ORdom ) = 1.78, 95% confidence interval (CI) = 1.26-2.52, p = 1.19 × 10-3 and ORdom = 1.74, 95% CI = 1.15-2.63, p = 8.57 × 10-3 , respectively). Neither mutation was significantly associated with risk of developing early-onset PDAC. This retrospective study demonstrates novel risk estimates of K3326X and I157T in sporadic PDAC which suggest that upon validation and in combination with other established genetic and non-genetic risk factors, these mutations may be used to improve pancreatic cancer risk assessment in European populations. Identification of carriers of these risk alleles as high-risk groups may also facilitate screening or prevention strategies for such individuals, regardless of family history.

Published
2019

49. Sequencing-based hematopoietic miRNA landscape reveals common and distinct features of autoimmune inflammatory phenotypes

Author

Juzenas, S., Hübenthal, M., Zeissig, S., Strüning, N., Keller, A., Schulte, D., D'Amato, M., Lindqvist, Carl Mårten, Kupcinskas, J., Schreiber, S., Halfvarson, Jonas, Hemmrich-Stanisak, G., Franke, A., Juzenas, S., Hübenthal, M., Zeissig, S., Strüning, N., Keller, A., Schulte, D., D'Amato, M., Lindqvist, Carl Mårten, Kupcinskas, J., Schreiber, S., Halfvarson, Jonas, Hemmrich-Stanisak, G., and Franke, A.

Abstract

Background: MiRNAs represent a class of small non-coding RNAs which are involved in regulation of protein-coding gene expression. Being implicated in various processes such as development and regu-latory circuits of cells, miRNAs also play an important role in the etiology of a variety of diseases. Imbalance of the regulatory pro-cesses within immune system development and response may lead to disturbed production of pro-inflammatory cytokines and over-reactivity of the immune cells, thus causing relapsing inflamma-tion, a characteristic feature of inflammatory bowel disease (IBD). Recent studies of colonic miRNAs employed NGS for the distinction between CD, UC and healthy controls, or among different CD sub-types. However, NGS-based profiles of blood-circulating miRNAs have thus far not been investigated in the context of IBD together with other immune-mediated diseases, including ankylosing spon-dylitis, psoriasis, systemic lupus erythematosus, rheumatoid arthritis and sarcoidosis, as well as non-immune hemolytic-uremic syndrome. Methods: Study participants were recruited in Germany and Sweden, where peripheral blood samples (PAXgene) as well as phenotypical and clinical information (such as treatment status, dis-ease activity and location) was collected. Small RNA transcriptomes of 680 individuals (Figure 1) were sequenced using Illumina NGS platform. Small RNA-seq data preprocessing and quantification were performed using cutadapt and miraligner (ref. miRBase v22), respectively. Differential expression analysis (DESeq2) and correla-tion (Spearman) analysis have been performed to identify disease activity-, trait- and treatment-specific miRNA signatures. These sig-natures were then utilized in a machine-learning approach to build classification models for IBD diagnostics. Results: The results of multiple pairwise differential expression anal-yses among different immune-mediated inflammatory conditions and healthy controls revealed inflammation-specific as well an

Published
2019
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50. International consensus on diverticulosis and diverticular disease. Statements from the 3rd international symposium on diverticular disease

Author

Tursi, A., Brandimarte, G., Di Mario, F., Lanas, A., Scarpignato, C., Bafutto, M., Barbara, G., Bassotti, G., Binda, G. A., Biondi, Alberto, Biondo, S., Cambie, G., Cassieri, C., Crucitti, Antonio, Dumitrascu, D. L., Elisei, W., Escalante, R., Herszenyi, L., Kruis, W., Kupcinskas, J., Lahat, A., Lecca, P. G., Maconi, G., Malfertheiner, P., Mazzari, A., Mearin, F., Milosavljevic, T., Nardone, G., de Oliveira, E. C., Papa, Alfredo, Papagrigoriadis, S., Pera, M., Persiani, Roberto, Picchio, M., Regula, J., Stimac, D., Stollman, N., Strate, L. L., Violi, A., Walker, M. M. D., Biondi A. (ORCID:0000-0002-2470-7858), Crucitti A. (ORCID:0000-0003-3496-4185), Persiani R. (ORCID:0000-0002-1537-5097), Tursi, A., Brandimarte, G., Di Mario, F., Lanas, A., Scarpignato, C., Bafutto, M., Barbara, G., Bassotti, G., Binda, G. A., Biondi, Alberto, Biondo, S., Cambie, G., Cassieri, C., Crucitti, Antonio, Dumitrascu, D. L., Elisei, W., Escalante, R., Herszenyi, L., Kruis, W., Kupcinskas, J., Lahat, A., Lecca, P. G., Maconi, G., Malfertheiner, P., Mazzari, A., Mearin, F., Milosavljevic, T., Nardone, G., de Oliveira, E. C., Papa, Alfredo, Papagrigoriadis, S., Pera, M., Persiani, Roberto, Picchio, M., Regula, J., Stimac, D., Stollman, N., Strate, L. L., Violi, A., Walker, M. M. D., Biondi A. (ORCID:0000-0002-2470-7858), Crucitti A. (ORCID:0000-0003-3496-4185), and Persiani R. (ORCID:0000-0002-1537-5097)

Abstract

The statements produced by the Chairmen and Speakers of the 3rd International Symposium on Diverticular Disease, held in Madrid on April 11th-13th 2019, are reported. Topics such as current and evolving concepts on the pathogenesis, the course of the disease, the news in diagnosing, hot topics in medical and surgical treatments, and finally, critical issues on the disease were reviewed by the Chairmen who proposed 39 statements graded according to level of evidence and strength of recommendation. Each topic was explored focusing on the more relevant clinical questions. The vote was conducted on a 6-point scale and consensus was defined a priori as 67% agreement of the participants. The voting group consisted of 124 physicians from 18 countries, and agreement with all statements was provided. Comments were added explaining some controversial areas.

Published
2019

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