Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Autor: Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M, Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K, Barakat, Farah, Auth, Marcus K H, Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P, Satsangi, Jack, Parkes, Miles, Thapar, Nikhil, Ferry, Helen, Matte, Julie C, Gilmour, Kimberly C, Wedrychowicz, Andrzej, Sullivan, Peter, Moore, Carmel, Sambrook, Jennifer, Ouwehand, Willem, Roberts, David, Danesh, John, Baeumler, Toni A, Fulga, Tudor A, Karaminejadranjbar, Mohammad, Ahmed, Ahmed, Wilson, Rachel, Barrett, Jeffrey C, Elkadri, Abdul, Griffiths, Anne M, Snapper, Scott B, Shah, Neil, Muise, Aleixo M, Wilson, David C, Uhlig, Holm H, Anderson, Carl A, Marlen, Zurek, Caterina, Strisciuglio, Mamoun, Elawad, Bernice, Lo, Carolina, Arancibia-Carcamo, Adam, Bailey, Ellie, Barnes, Elizabeth Louise, Bird-Lieberman, Oliver, Brain, Barbara, Braden, Jane, Collier, James, East, Lucy, Howarth, Satish, Keshav, Paul, Klenerman, Simon, Leedham, Rebecca, Palmer, Fiona, Powrie, Alison, Simmons, Matthew, Walker, Zoe, Tolkien, Stephen, Kaptoge, David, Allen, Susan, Mehenny, Jonathan, Mant, Emanuele, Di Angelantonio, Simon G, Thompson, Bahtiyar, Yilmaz, Pascal, Juillerat, Markus, Geuking, Reiner, Wiest, Andrew J, Macpherson, Francisco Damian, Bravo, Lukas, Brügger, Ove, Carstens, Ulrike Graf, Bigler, Benjamin, Heimgartner, Monica, Rusticeanu, Sybille, Schmid-Uebelhart, Bruno, Strebel, Aurora, Tatu, Radu, Tutuian, Ove, Øyås, Charlotte, Ramon, Jörg, Stelling, Yannick, Franc, Nicolas, Fournier, Valerie E H, Pittet, Bernard, Burnand, Mara, Egger, Delphine, Golay, Astrid, Marot, Leilla, Musso, Valérie, Pittet, Jean-Benoît, Rossel, Vivianne, Seematter, Joachim, Sommer, Rachel, Vulliamy, Pierre, Michetti, Michel H, Maillard, Céline, Keller, Andreas, Nydegger, Alain, Schoepfe, Eva, Archanioti, Jessica, Ezri, Montserrat, Fraga, Alain, Schoepfer, Christoph, Müller, Gerhard, Rogler, Luc, Biedermann, Mirjam, Blattmann, Sabine, Burk, Barbara, Dora, Michael, Fried, Benjamin, Misselwitz, Beat, Müllhaupt, Nicole, Obialo, Daniel, Pohl, Nadia, Raschle, Michael, Scharl, Stephan, Vavricka, Roland, Von Känel, Jonas, Zeitz, Karim, Abdelrahman, Gentiana, Ademi, Jan, Borovicka, Stephan, Brand, Remus, Frei, Johannes, Haarer, Christina, Knellwolf-Grieger, Claudia, Krieger-Grübel, Patrizia, Künzler, Christa, Meyenberger, Pamela, Meyer, Nina, Röhrich, Mikael, Sawatzki, Martin, Schelling, Gian-Marco, Semadeni, Michael, Sulz, Dorothee, Zimmermann, Patrick, Aepli, Dominique H, Criblez, Cyrill, Hess, Jean-Pierre, Richterich, Johannes, Spalinger, Dominic, Staudenmann, Andreas, Stulz, Stefanie, Wöhrle, Amman, Thomas, Claudia, Anderegg, Henrik, Köhler, Rachel, Kusche, Anca-Teodora, Antonino, Eviano, Arrigoni, José M, Bengoa, Sophie, Cunningham, Philippe, de Saussure, Laurent, Girard, Diana Bakker, de Jong, Polat, Bastürk, Simon, Brunner, Lukas, Degen, Petr, Hruz, Carolina, Khalid-de Bakker, Jan, Niess, Bruno, Balsiger, Janine, Haldemann, Gaby, Saner, Frank, Seibold, Peter, Bauerfeind, Andrea, Becocci, Dominique, Belli, Janek, Binek, Peter, Hengstler, Stephan, Boehm, Tujana, Boldanov, Patrick, Bühr, Rebekka, Koller, Vanessa, Rueger, Arne, Senning, Emanuel, Burri, Sophie, Buyse, Dahlia-Thao, Cao, Fabrizia, D'Angelo, Joakim, Delarive, Christopher, Doerig, Roxane, Hessler, Claudia, Preissler, Ronald, Rentsch, Branislav, Risti, Marc Alain, Ritz, Michael, Steuerwald, Jürg, Vögtlin, Markus, Sagmeister, Bernhard, Sauter, Susanne, Schibli, Christiane, Sokollik, Hugo, Schlauri, Jean-François, Schnegg, Mariam, Seirafi, Holger, Spangenberger, Philippe, Stadler, Peter, Staub, Volker, Stenz, Michela, Tempia-Caliera, Joël, Thorens, Kaspar, Truninger, Patrick, Urfer, Francesco, Viani, Dominique, Vouillamoz, Silvan, Zander, Tina, Wyli, L, Jostins, N A, Kennedy, T, Ahmad, C A, Lamb, C, Edwards, A, Hart, C, Hawkey, J C, Mansfield, C, Mowat, W G, Newman, A, Simmons, M, Tremelling, J C, Lee, N J, Prescott, C G, Mathew, C W, Lees, D P B, McGovern, S R, Targan, G, Botwin, E, Mengesha, P, Fleshner, C, Landers, D, Li, J D, Rioux, A, Bitton, J, Côté-Daigneault, M J, Daly, R, Xavier, K, Morris, G, Boucher, J H, Cho, C, Abraham, M, Merad, B, Sands, I, Peter, K, Hao, Y, Itan, R H, Duerr, L, Konnikova, M B, Schwartz, S, Proksell, E, Johnston, V, Miladinova, W, Chen, S R, Brant, L, Datta, M S, Silverberg, L P, Schumm, S, Birch, M, Giri, K, Gettler, Y, Sharma, C, Stevens, M, Lazarev, T, Haritunians

Publikováno v: Nature communications, Vol. 11, no. 1, p. 995 (2020)
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Nature Communications
Serra, Eva Gonçalves; Schwerd, Tobias; Moutsianas, Loukas; Cavounidis, Athena; Fachal, Laura; Pandey, Sumeet; Kammermeier, Jochen; Croft, Nicholas M; Posovszky, Carsten; Rodrigues, Astor; Russell, Richard K; Barakat, Farah; Auth, Marcus K H; Heuschkel, Robert; Zilbauer, Matthias; Fyderek, Krzysztof; Braegger, Christian; Travis, Simon P; Satsangi, Jack; Parkes, Miles; ... (2020). Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. Nature communications, 11(1), p. 995. 10.1038/s41467-019-14275-y
Nature communications, vol. 11, no. 1, pp. 995
Serra, E G, Schwerd, T, Moutsianas, L, Cavounidis, A, Fachal, L, Pandey, S, Kammermeier, J, Croft, N M, Posovszky, C, Rodrigues, A, Russell, R K, Barakat, F, Auth, M K H, Heuschkel, R, Zilbauer, M, Fyderek, K, Braegger, C, Travis, S P, Satsangi, J, Parkes, M, Thapar, N, Ferry, H, Matte, J C, Gilmour, K C, Wedrychowicz, A, Sullivan, P, Moore, C, Sambrook, J, Ouwehand, W, Roberts, D, Danesh, J, Baeumler, T A, Fulga, T A, Karaminejadranjbar, M, Ahmed, A, Wilson, R, Barrett, J C, Elkadri, A, Griffiths, A M, Snapper, S B, Shah, N, Muise, A M, Wilson, D C, Uhlig, H H & Anderson, C A 2020, ' Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease ', Nature Communications, vol. 11, no. 1, 995 . https://doi.org/10.1038/s41467-019-14275-y
Nature Communications, 11 (1)

Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::282851f8bc740bd242ba5ac671511a88
https://ora.ox.ac.uk/objects/uuid:e074342c-af9d-41fd-a898-9b6570bb5151

Differences in Outcomes Reported by Patients With Inflammatory Bowel Diseases vs Their Health Care Professionals

Autor: Valérie E.H. Pittet, Michel H. Maillard, Thomas Simonson, Nicolas Fournier, Gerhard Rogler, Pierre Michetti, Claudia Anderegg, Peter Bauerfeind, Christoph Beglinger, Stefan Begré, Dominique Belli, José M. Bengoa, Luc Biedermann, Beat Bigler, Janek Binek, Mirjam Blattmann, Stephan Boehm, Jan Borovicka, Christian P. Braegger, Nora Brunner, Patrick Bühr, Bernard Burnand, Emanuel Burri, Sophie Buyse, Matthias Cremer, Dominique H. Criblez, Philippe de Saussure, Lukas Degen, Joakim Delarive, Christopher Doerig, Barbara Dora, Gian Dorta, Mara Egger, Tobias Ehmann, Ali El-Wafa, Matthias Engelmann, Jessica Ezri, Christian Felley, Markus Fliegner, Montserrat Fraga, Pascal Frei, Remus Frei, Michael Fried, Florian Froehlich, Christian Funk, Raoul Ivano Furlano, Suzanne Gallot-Lavallée, Martin Geyer, Marc Girardin, Delphine Golay, Tanja Grandinetti, Beat Gysi, Horst Haack, Johannes Haarer, Beat Helbling, Peter Hengstler, Denise Herzog, Cyrill Hess, Klaas Heyland, Thomas Hinterleitner, Philippe Hiroz, Claudia Hirschi, Petr Hruz, Rika Iwata, Res Jost, Pascal Juillerat, Céline Keller, Christina Knellwolf, Christoph Knoblauch, Henrik Köhler, Rebekka Koller, Claudia Krieger-Grübel, Gerd Kullak-Ublick, Patrizia Künzler, Markus Landolt, Rupprecht Lange, Frank Serge Lehmann, Andrew Macpherson, Philippe Maerten, Christine Manser, Michael Manz, Urs Marbet, George Marx, Christoph Matter, Rémy Meier, Martina Mendanova, Benjamin Misselwitz, Bernhard Morell, Patrick Mosler, Christian Mottet, Christoph Müller, Pascal Müller, Beat Müllhaupt, Claudia Münger-Beyeler, Leilla Musso, Andreas Nagy, Michaela Neagu, Cristina Nichita, Jan Niess, Andreas Nydegger, Nicole Obialo, Carl Oneta, Cassandra Oropesa, Ueli Peter, Daniel Peternac, Laetitia Marie Petit, Franziska Piccoli-Gfeller, Julia Beatrice Pilz, Valérie Pittet, Nadia Raschle, Ronald Rentsch, Sophie Restellini, Jean-Pierre Richterich, Sylvia Rihs, Marc Alain Ritz, Jocelyn Roduit, Daniela Rogler, Jean-Benoît Rossel, Vanessa Rueger, Gaby Saner, Bernhard Sauter, Mikael Sawatzki, Michela Schäppi, Michael Scharl, Sylvie Scharl, Martin Schelling, Susanne Schibli, Hugo Schlauri, Sybille Schmid Uebelhart, Jean-François Schnegg, Alain Schoepfer, Frank Seibold, Mariam Seirafi, Gian-Marco Semadeni, David Semela, Arne Senning, Marc Sidler, Christiane Sokollik, Johannes Spalinger, Holger Spangenberger, Philippe Stadler, Michael Steuerwald, Alex Straumann, Bigna Straumann-Funk, Michael Sulz, Alexandra Suter, Joël Thorens, Sarah Tiedemann, Radu Tutuian, Stephan Vavricka, Francesco Viani, Jürg Vögtlin, Roland Von Känel, Alain Vonlaufen, Dominique Vouillamoz, Rachel Vulliamy, Jürg Wermuth, Helene Werner, Paul Wiesel, Reiner Wiest, Tina Wylie, Jonas Zeitz, Dorothee Zimmermann

Publikováno v: Clinical Gastroenterology and Hepatology, Vol. 17, No 10 (2019) pp. 2050-2059.e1

Background & Aims Inflammatory bowel disease (IBD) scoring systems combine patient-reported data with physicians’ observations to determine patient outcomes, but these systems are believed to have limitations. We used real-world data from a large I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abc198d6f71d3895c24b78ce7bde9ab0
https://pubmed.ncbi.nlm.nih.gov/30471455

Symptoms of Depression and Anxiety Are Independently Associated With Clinical Recurrence of Inflammatory Bowel Disease

Autor: Antonina Mikocka-Walus, Valerie Pittet, Jean-Benoît Rossel, Roland von Känel, Claudia Anderegg, Peter Bauerfeind, Christoph Beglinger, Stefan Begré, Dominique Belli, José M. Bengoa, Luc Biedermann, Beat Bigler, Janek Binek, Mirjam Blattmann, Stephan Boehm, Jan Borovicka, Christian P. Braegger, Nora Brunner, Patrick Bühr, Bernard Burnand, Emanuel Burri, Sophie Buyse, Matthias Cremer, Dominique H. Criblez, Philippe de Saussure, Lukas Degen, Joakim Delarive, Christopher Doerig, Barbara Dora, Gian Dorta, Mara Egger, Tobias Ehmann, Ali El-Wafa, Matthias Engelmann, Jessica Ezri, Christian Felley, Markus Fliegner, Nicolas Fournier, Montserrat Fraga, Pascal Frei, Remus Frei, Michael Fried, Florian Froehlich, Christian Funk, Raoul Ivano Furlano, Suzanne Gallot-Lavallée, Martin Geyer, Marc Girardin, Delphine Golay, Tanja Grandinetti, Beat Gysi, Horst Haack, Johannes Haarer, Beat Helbling, Peter Hengstler, Denise Herzog, Cyrill Hess, Klaas Heyland, Thomas Hinterleitner, Philippe Hiroz, Claudia Hirschi, Petr Hruz, Rika Iwata, Res Jost, Pascal Juillerat, Vera Kessler Brondolo, Christina Knellwolf, Christoph Knoblauch, Henrik Köhler, Rebekka Koller, Claudia Krieger-Grübel, Gerd Kullak-Ublick, Patrizia Künzler, Markus Landolt, Rupprecht Lange, Frank Serge Lehmann, Andrew Macpherson, Philippe Maerten, Michel H. Maillard, Christine Manser, Michael Manz, Urs Marbet, George Marx, Christoph Matter, Valérie McLin, Rémy Meier, Martina Mendanova, Christa Meyenberger, Pierre Michetti, Benjamin Misselwitz, Darius Moradpour, Bernhard Morell, Patrick Mosler, Christian Mottet, Christoph Müller, Pascal Müller, Beat Müllhaupt, Claudia Münger-Beyeler, Leilla Musso, Andreas Nagy, Michaela Neagu, Cristina Nichita, Jan Niess, Natacha Noël, Andreas Nydegger, Nicole Obialo, Carl Oneta, Cassandra Oropesa, Ueli Peter, Daniel Peternac, Laetitia Marie Petit, Franziska Piccoli-Gfeller, Julia Beatrice Pilz, Valérie Pittet, Nadia Raschle, Ronald Rentsch, Sophie Restellini, Jean-Pierre Richterich, Sylvia Rihs, Marc Alain Ritz, Jocelyn Roduit, Daniela Rogler, Gerhard Rogler, Markus Sagmeister, Gaby Saner, Bernhard Sauter, Mikael Sawatzki, Michela Schäppi, Michael Scharl, Martin Schelling, Susanne Schibli, Hugo Schlauri, Sybille Schmid Uebelhart, Jean-François Schnegg, Alain Schoepfer, Frank Seibold, Mariam Seirafi, Gian-Marco Semadeni, David Semela, Arne Senning, Marc Sidler, Christiane Sokollik, Johannes Spalinger, Holger Spangenberger, Philippe Stadler, Michael Steuerwald, Alex Straumann, Bigna Straumann-Funk, Michael Sulz, Joël Thorens, Sarah Tiedemann, Radu Tutuian, Stephan Vavricka, Francesco Viani, Jürg Vögtlin, Roland Von Känel, Alain Vonlaufen, Dominique Vouillamoz, Rachel Vulliamy, Jürg Wermuth, Helene Werner, Paul Wiesel, Reiner Wiest, Tina Wylie, Jonas Zeitz, Dorothee Zimmermann

Publikováno v: Clinical Gastroenterology and Hepatology, Vol. 14, No 6 (2016) pp. 829-835.e1
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Ga

Background & Aims We examined the relationship between symptoms of depression and anxiety and clinical recurrence of inflammatory bowel disease (IBD) in a large patient cohort. We considered the progression of depression and anxiety over time. Method

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdc154d77ff75cd309ee8f06f00a136e
https://archive-ouverte.unige.ch/unige:97079

Herbal does not mean innocuous: Ten cases of severe hepatotoxicity associated with dietary supplements from Herbalife® products

Autor: Alain Schoepfer, Carl Oneta, Arthur Zimmermann, Antoinette Engel, Dominique H. Criblez, Urs A. Marbet, Juerg Reichen, Karin Fattinger

Publikováno v: Journal of hepatology

Background/Aims Herbal agents are popular and perceived as safe because they are supposedly ‘natural'. We report 10 cases of toxic hepatitis implicating Herbalife ® products. Methods To determine the prevalence and outcome of hepatotoxicity due to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0eb538c2639bfacdeb943b1d085a65b
https://doi.org/10.1016/j.jhep.2007.06.014

Percutaneous endoscopic gastrostomy to treat upside-down stomach before stent insertion in a patient with distal esophageal carcinoma

Autor: Dominique H Criblez

Publikováno v: The American journal of gastroenterology. 93(10)

A 89-yr-old woman presenting with dysphagia due to an obstructing adenocarcinoma of the distal esophagus was additionally diagnosed to have an upside-down stomach creating a sharp angulation at the esophagogastric junction. Gastric anatomy had to be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3336ea4610a3426a94e11003b40c1c4
https://pubmed.ncbi.nlm.nih.gov/9772059