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2. Pediatric Patients with Eosinophilic Esophagitis and Their Parents Identify Symptoms as the Most Important Treatment Outcome.

Author

von Graffenried, Thea, Safroneeva, Ekaterina, Braegger, Christian, Ezri, Jessica, Garzoni, Luca, Giroud Rivier, Alexa, Greuter, Thomas, Köhler, Henrik, McLin, Valerie A., Marx, George, Müller, Pascal, Petit, Laetitia Marie, Schibli, Susanne, Sokollik, Christiane, Tempia-Caliera, Michela, Zwahlen, Marcel, Schoepfer, Alain M., and Nydegger, Andreas

Subjects
CHILD patients, EOSINOPHILIC esophagitis, PARENTS, PARENT attitudes, TREATMENT effectiveness, QUALITY of life
Abstract

Introduction: Given the lack of data, we aimed to explore which therapeutic endpoints pediatric patients with eosinophilic esophagitis (EoE) and their parents consider to be relevant. Methods: We created an educational brochure on EoE and a questionnaire, both of which were content-validated by pediatric patients and parents. Validated documents were sent to 112 patients and parents. They ranked the importance (5 levels) of short (during next 3 months) and long-term (≥1 year) treatment effect on symptoms, quality of life, endoscopic inflammation, stricture formation, histological inflammation, and fibrosis. Results: A total of 45 parents and 30 pediatric patients ≥11 years completed the questionnaires. Pediatric patients identified improvement in the following domains as most important in the short- and long-term, respectively: symptoms (73% vs. 77%), QoL (53% vs. 57%), histologic inflammation (47% vs. 50%), histologic fibrosis (40% vs. 33%), endoscopic inflammation (47% vs. 40%), and strictures (33% vs. 40%). Parents of children ≥11 years old classified improvement in the following domains as most important in the short- and long-term, respectively: symptoms (70% vs. 83%), QoL (63% vs. 80%), histologic inflammation (67% vs. 77%), histologic fibrosis (47% vs. 63%), endoscopic inflammation (77% vs. 80%), and strictures (40% vs. 53%). Agreement between caregiver and children on the short-term importance of treatment outcomes was as follows: symptoms (77%), QoL (40%), histologic inflammation and fibrosis (47% and 43%), endoscopic inflammation and strictures (50% and 40%). Conclusion: Pediatric patients and parents attributed most importance to improvement in symptoms and QoL. Agreement between parents and patients regarding therapy goals is limited. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Impact of Overweight and Obesity on Disease Outcome in the Pediatric Swiss Inflammatory Bowel Disease Cohort

Author

von Graffenried, Thea, Schoepfer, Alain M., Rossel, Jean-Benoit, Greuter, Thomas, Safroneeva, Ekaterina, Godat, Sébastien, Henchoz, Sarah, Vavricka, Stephan R., Sokollik, Christiane, Spalinger, Johannes, Braegger, Christian P., Nydegger, Andreas, Abdelrahman, Karim, Ademi, Gentiana, Aepli, Patrick, Thomas, Amman, Anderegg, Claudia, Antonino, Anca-Teodora, Archanioti, Eva, Arrigoni, Eviano, de Jong, Diana Bakker, Balsiger, Bruno, Bastürk, Polat, Bauerfeind, Peter, Becocci, Andrea, Belli, Dominique, Bengoa, José M., Biedermann, Luc, Binek, Janek, Blattmann, Mirjam, Boehm, Stephan, Boldanova, Tujana, Borovicka, Jan, Braegger, Christian P., Brand, Stephan, Brügger, Lukas, Brunner, Simon, Bühr, Patrick, Burnand, Bernard, Burk, Sabine, Burri, Emanuel, Buyse, Sophie, Cao, Dahlia-Thao, Carstens, Ove, Criblez, Dominique H., Cunningham, Sophie, D’Angelo, Fabrizia, de Saussure, Philippe, Degen, Lukas, Delarive, Joakim, Doerig, Christopher, Dora, Barbara, Drerup, Susan, Egger, Mara, El-Wafa, Ali, Engelmann, Matthias, Felley, Christian, Fliegner, Markus, Fournier, Nicolas, Fraga, Montserrat, Franc, Yannick, Frei, Pascal, Frei, Remus, Fried, Michael, Froehlich, Florian, Furlano, Raoul Ivano, Garzoni, Luca, Geyer, Martin, Girard, Laurent, Girardin, Marc, Golay, Delphine, Good, Ignaz, Bigler, Ulrike Graf, Gysi, Beat, Haarer, Johannes, Halama, Marcel, Haldemann, Janine, Heer, Pius, Heimgartner, Benjamin, Helbling, Beat, Hengstler, Peter, Herzog, Denise, Hess, Cyrill, Heyland, Klaas, Hinterleitner, Thomas, Hirschi, Claudia, Hruz, Petr, Juillerat, Pascal, Khalid-de Bakker, Carolina, Kayser, Stephan, Keller, Céline, Knellwolf, Christina, Knoblauch, Christoph, Köhler, Henrik, Koller, Rebekka, Krieger, Claudia, Künzler, Patrizia, Kusche, Rachel, Lehmann, Frank Serge, Macpherson, Andrew, Maillard, Michel H., Manz, Michael, Marot, Astrid, Meier, Rémy, Meyenberger, Christa, Meyer, Pamela, Michetti, Pierre, Misselwitz, Benjamin, Mosler, Patrick, Mottet, Christian, Müller, Christoph, Müllhaupt, Beat, Musso, Leilla, Neagu, Michaela, Nichita, Cristina, Niess, Jan, Nydegger, Andreas, Obialo, Nicole, Ollo, Diana, Oropesa, Cassandra, Peter, Ulrich, Peternac, Daniel, Petit, Laetitia Marie, Pittet, Valérie, Pohl, Daniel, Porzner, Marc, Preissler, Claudia, Raschle, Nadia, Rentsch, Ronald, Restellini, Alexandre, Restellini, Sophie, Richterich, Jean-Pierre, Ris, Frederic, Risti, Branislav, Ritz, Marc Alain, Rogler, Gerhard, Röhrich, Nina, Rossel, Jean-Benoît, Rueger, Vanessa, Rusticeanu, Monica, Sagmeister, Markus, Saner, Gaby, Sauter, Bernhard, Sawatzki, Mikael, Scharl, Michael, Schelling, Martin, Schibli, Susanne, Schlauri, Hugo, Schluckebier, Dominique, Schmid, Daniela, Schmid, Sybille, Schnegg, Jean-François, Schoepfer, Alain, Seematter, Vivianne, Seibold, Frank, Seirafi, Mariam, Semadeni, Gian-Marco, Senning, Arne, Sokollik, Christiane, Sommer, Joachim, Spalinger, Johannes, Spangenberger, Holger, Stadler, Philippe, Staub, Peter, Staudenmann, Dominic, Stenz, Volker, Steuerwald, Michael, Straumann, Alex, Stulz, Andreas, Sulz, Michael, Tatu, Aurora, Tempia-Caliera, Michela, Thorens, Joël, Truninger, Kaspar, Tutuian, Radu, Urfer, Patrick, Vavricka, Stephan, Viani, Francesco, Vögtlin, Jürg, Von Känel, Roland, Vouillamoz, Dominique, Vulliamy, Rachel, Wiesel, Paul, Wiest, Reiner, Wöhrle, Stefanie, Zamora, Samuel, Zander, Silvan, Zeitz, Jonas, and Zimmermann, Dorothee

Published
2022
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4. Differences in Outcomes Reported by Patients With Inflammatory Bowel Diseases vs Their Health Care Professionals

Author

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

Published
2019
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6. Symptoms of Depression and Anxiety Are Independently Associated With Clinical Recurrence of Inflammatory Bowel Disease

Author

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

Published
2016
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12. The Relevance of Vitamin and Iron Deficiency in Patients with Inflammatory Bowel Diseases in Patients of the Swiss IBD Cohort

Author

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

Published
2018
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13. Genetic polymorphisms associated with smoking behaviour predict the risk of surgery in patients with Crohnʼs disease

Author

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

Published
2018
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18. Impact of the early use of immunomodulators or TNF antagonists on bowel damage and surgery in Crohnʼs disease

Author

Safroneeva, E., Vavricka, S. R., Fournier, N., Pittet, V., Peyrin-Biroulet, L., Straumann, A., Rogler, G., Schoepfer, A. M., Bauerfeind, Peter, Beglinger, Christoph, Begré, Stefan, Bengoa, José, Binek, Janek, Boller, Daniel, Borovicka, Jan, Braegger, Christian, Burnand, Bernard, Camara, Rafael, Criblez, Dominique, de Saussure, Philippe, Degen, Lukas, Delarive, Joakim, Ehmann, Tobias, Engelmann, Matthias, Wafa, Ali El, Felley, Christian, Frei, Alain, Frei, Remus, Fried, Michael, Friedt, Michael, Froehlich, Florian, Gallot-Lavallée, Suzanne, Gerlach, Tilman, Geyer, Martin, Girardin, Marc, Goetze, Oliver, Haack, Horst, Hediger, Serge, Hengstler, Peter, Heyland, Klaas, Janiak, Patrick, Juillerat, Pascal, Brondolo, Vera Kessler, Knoblauch, Christoph, Kullak-Ublick, Gerd A., Maillard, Michel, Manz, Michael, Marbet, Urs, Meier, Rémy, Meyenberger, Christa, Michetti, Pierre, Mottet, Christian, Müller, Christoph, Müllhaupt, Beat, Nicolet, Thierry, Nydegger, Andreas, Pache, Isabelle, Piccoli, Franziska, Pilz, Julia, Rentsch, Ronald, Rey, Jean-Pierre, Rihs, Silvia, Rogler, Daniela, Sagmeister, Markus, Sauter, Bernhard, Schaub, Niklaus, Schibli, Susanne, Seibold, Frank, Spalinger, Johannes, Stadler, Philippe, Steuerwald, Michael, Sul, Michael, Tempia-Caliera, Michela, Thorens, Joël, Vader, John-Paul, Vögtlin, Jürg, Von Känel, Roland, Wachter, Gert, Wermuth, Jürg, and Wiesel, Paul

Published
2015
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19. Systematic analysis of factors associated with progression and regression of ulcerative colitis in 918 patients

Author

Safroneeva, E., Vavricka, S., Fournier, N., Seibold, F., Mottet, C., Nydegger, A., Ezri, J., Straumann, A., Rogler, G., Schoepfer, A. M., Bauerfeind, Peter, Beglinger, Christoph, Begré, Stefan, Bengoa, José, Binek, Janek, Boller, Daniel, Borovicka, Jan, Braegger, Christian, Burnand, Bernard, Camara, Rafael, Criblez, Dominique, de Saussure, Philippe, Degen, Lukas, Delarive, Joakim, Ehmann, Tobias, Engelmann, Matthias, Wafa, Ali El, Felley, Christian, Frei, Alain, Frei, Pascal, Frei, Remus, Fried, Michael, Froehlich, Florian, Gallot-Lavallée, Suzanne, Gerlach, Tilman, Geyer, Martin, Girardin, Marc, Goetze, Oliver, Haack, Horst, Hediger, Serge, Hengstler, Peter, Heyland, Klaas, Janiak, Patrick, Juillerat, Pascal, Brondolo, Vera Kessler, Knoblauch, Christoph, Kullak-Ublick, Gerd A., Maillard, Michel, Manser, Christine, Marbet, Urs, Manz, Michael, Meier, Rémy, Meyenberger, Christa, Michetti, Pierre, Mottet, Christian, Müller, Christoph, Müllhaupt, Beat, Nicolet, Thierry, Nydegger, Andreas, Piccoli, Franziska, Pilz, Julia, Pittet, Valérie, Rentsch, Ronald, Rey, Jean-Pierre, Rogler, Daniela, Rogler, Gerhard, Sagmeister, Markus, Sauter, Bernhard, Schaub, Niklaus, Schibli, Susanne, Schoepfer, Alain M., Seibold, Frank, Spalinger, Johannes, Stadler, Philippe, Steuerwald, Michael, Straumann, Alex, Sulz, Michael, Thorens, Joël, Vader, John-Paul, Vavricka, Stephan R., Vögtlin, Jürg, Von Känel, Roland, Wachter, Gert, Wermuth, Jürg, and Wiesel, Paul

Published
2015
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20. Symptoms of Depression and Anxiety Are Independently Associated With Clinical Recurrence of Inflammatory Bowel Disease

Author

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

Published
2016
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25. The erroneous perception of a clinical sign: Cholestasis preceding sepsis mimicking hepatitis in an adolescent patient.

Author

Romano, Fabrizio, Molinaro, Marisa, Schibli, Susanne, Agyeman, Philipp K. A., and Löllgen, Ruth Mari

Subjects
SYMPTOMS, TEENAGERS, SEPSIS, CHOLESTASIS, MAGNETIC resonance imaging, OSTEOMYELITIS, JAUNDICE
Abstract

Jaundice should be considered as a first clinical sign preceding severe invasive bacterial infection or sepsis in patients of all ages including childhood and adolescence. Early laboratory investigations and MR imaging studies for osteomyelitis or myositis are paramount to avoid progression to life-threatening sepsis and significant morbidity and mortality. [ABSTRACT FROM AUTHOR]

Published
2021
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26. D-lactic Acidosis: Successful Suppression of D-lactate-Producing Lactobacillus by Probiotics

Author

Yilmaz, Bahtiyar, Schibli, Susanne, Macpherson, Andrew, and Sokollik, Christiane

Subjects
610 Medicine & health
Abstract

Intestinal microbiota composition in children with short bowel syndrome (SBS) is an important factor influencing the clinical outcome. An increase of D-lactate-producing bacteria can lead to D-lactic acidosis, also referred to as D-lactate encephalopathy, with severe neurologic impairment. Antibiotic treatments for D-lactic acidosis in children with SBS offer often only short-term relief. Here, we present the case of a boy with SBS who developed recurrent episodes of D-lactic acidosis even under continuous cycling antibiotic treatment. Microbiological analyses were used to detect the presence of D-lactate-producing species in the stool samples. A probiotic cocktail was introduced to alter the intestinal microbiota. During follow-up under treatment with probiotics, the patient remained stable, and there was no additional need for antibiotic therapy for more than a year. Stool composition of the patient was sequenced regularly over that period. His microbiota profile changed completely in species richness, and a clustering of species according to probiotic usage was seen. Importantly, D-lactate-producing strains disappeared within a few weeks after probiotic introduction and were no longer detected in the subsequent follow-up specimens.

Published
2018
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28. Quality of Life in Swiss Paediatric Inflammatory Bowel Disease Patients: Do Patients and Their Parents Experience Disease in the Same Way?

Author

Müller, Rebekka, Ziade, Farah, Pittet, Valérie, Fournier, Nicolas, Ezri, Jessica, Schoepfer, Alain, Schibli, Susanne, Spalinger, Johannes, Braegger, Christian, Nydegger, Andreas, Juillerat, Pascal, Tutuian, Radu, Wiest, Reiner, Müller, Christoph, Swiss IBD Cohort Study Group, ., University of Zurich, and Nydegger, Andreas

Subjects
Parents, Male, Pediatrics, medicine.medical_specialty, Quality of Life/psychology, Adolescent, 610 Medicine & health, Colitis, Ulcerative/psychology, Inflammatory bowel disease, 03 medical and health sciences, 0302 clinical medicine, Crohn Disease, Quality of life, 030225 pediatrics, Medicine, Health Status Indicators, Humans, 2715 Gastroenterology, Prospective Studies, Prospective cohort study, Child, ddc:618, business.industry, Gastroenterology, General Medicine, medicine.disease, Crohn Disease/psychology, digestive system diseases, humanities, 3. Good health, 10219 Clinic for Gastroenterology and Hepatology, Mood, Socioeconomic Factors, 10036 Medical Clinic, Cohort, Quality of Life, Marital status, Colitis, Ulcerative, Original Article, 030211 gastroenterology & hepatology, Female, Perception, business, Psychosocial, Switzerland, Cohort study, Parents/psychology
Abstract

BACKGROUND AND AIMS Inflammatory bowel diseases (IBDs) may impair quality of life (QoL) in paediatric patients. We aimed to evaluate in a nationwide cohort whether patients experience QoL in a different way when compared with their parents. METHODS Sociodemographic and psychosocial characteristics were prospectively acquired from paediatric patients and their parents included in the Swiss IBD Cohort Study. Disease activity was evaluated by the Paediatric Crohn's Disease Activity Index (PCDAI) and the Paediatric Ulcerative Colitis Activity Index (PUCAI). We assessed QoL using the KIDSCREEN questionnaire. The QoL domains were analysed and compared between children and parents according to type of disease, parents' age, origin, education and marital status. RESULTS We included 110 children and parents (59 Crohn's disease [CD], 45 ulcerative colitis [UC], 6 IBD unclassified [IBDU]). There was no significant difference in QoL between CD and UC/IBDU, whether the disease was active or in remission. Parents perceived overall QoL, as well as 'mood', 'family' and 'friends' domains, lower than the children themselves, independently of their place of birth and education. However, better concordance was found on 'school performance' and 'physical activity' domains. Marital status and age of parents significantly influenced the evaluation of QoL. Mothers and fathers being married or cohabiting perceived significantly lower mood, family and friends domains than their children, whereas mothers living alone had a lower perception of the friends domain; fathers living alone had a lower perception of family and mood subscores. CONCLUSION Parents of Swiss paediatric IBD patients significantly underestimate overall QoL and domains of QoL of their children independently of origin and education.

Published
2016

29. Systematic Analysis of the Impact of Diagnostic Delay on Bowel Damage in Paediatric Versus Adult Onset Crohn's Disease.

Author

Schoepfer, Alain, Santos, Jessica, Fournier, Nicolas, Schibli, Susanne, Spalinger, Johannes, Vavricka, Stephan, Safroneeva, Ekaterina, Aslan, Nurullah, Rogler, Gerhard, Braegger, Christian, and Nydegger, Andreas

Abstract

Background and Aims Length of diagnostic delay is associated with bowel strictures and intestinal surgery in adult patients with Crohn's disease [CD]. Here we assessed whether diagnostic delay similarly impacts on the natural history of paediatric CD patients. Methods Data from the Swiss IBD Cohort Study were analysed. Frequency of CD-related complications [bowel stenosis, perianal fistula, internal fistula, any fistula, resection surgery, fistula/abscess surgery, any complication] at diagnosis and in the long term [up to 30 years after CD diagnosis] was compared between paediatric patients [diagnosed <18 years] and adult patients [diagnosed ≥18 years] using multivariate Cox proportional hazard regression modelling. Results From 2006 to 2016, 387 paediatric and 1163 adult CD patients were included. Median [interquartile range: IQR] diagnostic delay was 3 [1–9] for the paediatric and 6 [1–24] months for the adult group, respectively. Adult onset CD patients presented at diagnosis more frequently with bowel stenosis [ p <0.001] and bowel surgery [ p <0.001] compared with paediatric CD patients. In the long term, length of diagnostic delay was significantly associated with bowel stenosis [ p = 0.001], internal fistula [ p = 0.038], and any complication [ p = 0.024] in the adult onset CD population. No significant association between length of diagnostic delay and CD-related outcomes in the long term was observed in the paediatric population. Conclusions Adult CD patients have longer diagnostic delay compared with paediatric CD patients and present at diagnosis more often with bowel stenosis and surgery. Length of diagnostic delay was found to be predictive for CD-related complications only in the adult but not in the paediatric CD population. [ABSTRACT FROM AUTHOR]

Published
2019
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30. PR3-ANCA and panel diagnostics in pediatric inflammatory bowel disease to distinguish ulcerative colitis from Crohn's disease.

Author

Horn, Michael P., Peter, Anna Maria, Righini Grunder, Franziska, Leichtle, Alexander B., Spalinger, Johannes, Schibli, Susanne, and Sokollik, Christiane

Subjects
INFLAMMATORY bowel diseases, ULCERATIVE colitis, CROHN'S disease, CYTOPLASM, CELL anatomy
Abstract

Background: Accurate classification of patients with inflammatory bowel disease into the subtypes ulcerative colitis (UC) and Crohn’s disease (CD) is still a challenge, but important for therapy and prognosis. Objectives: To evaluate the diagnostic utility of anti-neutrophil cytoplasmic antibodies specific for proteinase-3 (PR3-ANCA) for ulcerative colitis (UC) and the value of an antibody panel incorporating PR3-ANCA to differentiate between Crohn’s disease (CD) and UC. Study design: In this cohort study, 122 pediatric and adolescent individuals were retrospectively included (61 IBD patients of two clinical centers, 61 non-IBD controls). All subjects had a comprehensive antibody profile done from stored sera taken close to time of diagnosis. By employing quasi-exhaustive logistic regression the best discriminative model for UC and CD,subjects was determined in a training cohort and confirmed in a validation cohort. Results: PR3-ANCA was specifically associated with UC (odds ratio (OR), 17.6; 95% confidence interval (CI); 3.6, 87); P < .001). A four antibody-panel including PR3-ANCA had an AUC of 90.81% (95%CI; 81.93, 99.69) to distinguish between UC and CD in the training cohort. In a smaller external validation cohort, the AUC was 84.13% (95%CI; 64.21, 100) for accurate diagnosis of CD and UC. Conclusion: PR3-ANCA is highly specific for UC. The differentiating capability of a panel, which contains PR3-ANCA and weighs broadly available antibodies, is superior and utilization of the panel can support accurate classification in the work-up of pediatric and adolescent patients with IBD patients. [ABSTRACT FROM AUTHOR]

Published
2018
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31. D-lactic Acidosis: Successful Suppression of D-lactate--Lactobacillus Producing.

Author

Yilmaz, Bahtiyar, Schibli, Susanne, Macpherson, Andrew J., and Sokollik, Christiane

Subjects
*ANTIBIOTICS, *THERAPEUTIC use of probiotics, *FECAL analysis, *LACTATES, *LACTOBACILLUS, *MICROBIOLOGICAL techniques, *GUT microbiome, *LACTIC acidosis, *SHORT bowel syndrome
Abstract

Intestinal microbiota composition in children with short bowel syndrome (SBS) is an important factor influencing the clinical outcome. An increase of D-lactate--producing bacteria can lead to D-lactic acidosis, also referred to as D-lactate encephalopathy, with severe neurologic impairment. Antibiotic treatments for D-lactic acidosis in children with SBS offer often only short- term relief. Here, we present the case of a boy with SBS who developed recurrent episodes of D-lactic acidosis even under continuous cycling antibiotic treatment. Microbiological analyses were used to detect the presence of D-lactate--producing Lactobacillus species in the stool samples. A probiotic cocktail was introduced to alter the intestinal microbiota. During follow-up under treatment with probiotics, the patient remained stable, and there was no additional need for antibiotic therapy for more than a year. Stool composition of the patient was sequenced regularly over that period. His microbiota profile changed completely in species richness, and a clustering of species according to probiotic usage was seen. Importantly, D-lactate--producing Lactobacillus strains disappeared within a few weeks after probiotic introduction and were no longer detected in the subsequent follow-up specimens. [ABSTRACT FROM AUTHOR]

Published
2018
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33. Extraintestinal Manifestations of Pediatric Inflammatory Bowel Disease: Prevalence, Presentation, and Anti-TNF Treatment.

Author

Greuter, Thomas, Bertoldo, Fabio, Rechner, Roman, Straumann, Alex, Biedermann, Luc, Zeitz, Jonas, Misselwitz, Benjamin, Scharl, Michael, Rogler, Gerhard, Safroneeva, Ekaterina, Ali, Raja A. R., Braegger, Christian, Heyland, Klaas, Mueller, Pascal, Nydegger, Andreas, Petit, Laetitia-Marie, Schibli, Susanne, Furlano, Raoul I., Spalinger, Johannes, and Schäppi, Michela

Published
2017
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36. Gender Differences in Paediatric Patients of the Swiss Inflammatory Bowel Disease Cohort Study.

Author

Herzog, Denise, Buehr, Patrick, Koller, Rebekka, Rueger, Vanessa, Heyland, Klaas, Nydegger, Andreas, Spalinger, Johannes, Schibli, Susanne, and Braegger, Christian P.

Subjects
INFLAMMATORY bowel diseases, SEX differences (Biology), ANTHROPOMETRY, CROHN'S disease
Abstract

Purpose: Gender differences in paediatric patients with inflammatory bowel disease (IBD) are frequently reported as a secondary outcome and the results are divergent. To assess gender differences by analysing data collected within the Swiss IBD cohort study database since 2008, related to children with IBD, using the Montreal classification for a systematic approach. Methods: Data on gender, age, anthropometrics, disease location at diagnosis, disease behaviour, and therapy of 196 patients, 105 with Crohn's disease (CD) and 91 with ulcerative or indeterminate colitis (UC/IC) were retrieved and analysed. Results: The crude gender ratio (male : female) of patients with CD diagnosed at ≥10 years of age was 2.57, the adjusted ratio was 2.42, and in patients with UC/IC it was 0.68 and 0.64 respectively. The non-adjusted gender ratio of patients diagnosed at =10 years was 1.58 for CD and 0.88 for UC/IC. Boys with UC/IC diagnosed <10 years of age had a longer diagnostic delay, and in girls diagnosed with UC/IC >10 years a more important use of azathioprine was observed. No other gender difference was found after analysis of age, disease location and behaviour at diagnosis, duration of disease, familial occurrence of IBD, prevalence of extra-intestinal manifestations, complications, and requirement for surgery. Conclusion: CD in children <10 years affects predominantly boys with a sex ratio of 2.57; the impact of sex-hormones on the development of CD in pre-pubertal male patients should be investigated. [ABSTRACT FROM AUTHOR]

Published
2014
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38. Systematic Analysis of the Impact of Diagnostic Delay on Bowel Damage in Paediatric Versus Adult Onset Crohn's Disease

Author

Schoepfer, Alain, Santos, Jessica, Fournier, Nicolas, Schibli, Susanne, Spalinger, Johannes, Vavricka, Stephan, Safroneeva, Ekaterina, Aslan, Nurullah, Rogler, Gerhard, Braegger, Christian, and Nydegger, Andreas

Subjects
610 Medicine & health, 360 Social problems & social services, 3. Good health
Abstract

BACKGROUND AND AIMS Length of diagnostic delay is associated with bowel strictures and intestinal surgery in adult patients with Crohn's disease [CD]. Here we assessed whether diagnostic delay similarly impacts on the natural history of paediatric CD patients. METHODS Data from the Swiss IBD Cohort Study were analysed. Frequency of CD-related complications [bowel stenosis, perianal fistula, internal fistula, any fistula, resection surgery, fistula/abscess surgery, any complication] at diagnosis and in the long term [up to 30 years after CD diagnosis] was compared between paediatric patients [diagnosed

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

Author

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, Fachal, Laura [0000-0002-7256-9752], Croft, Nicholas M [0000-0002-1519-6435], Posovszky, Carsten [0000-0002-9487-8812], Russell, Richard K [0000-0001-7398-4926], Zilbauer, Matthias [0000-0002-7272-0547], Travis, Simon P [0000-0002-2690-4361], Matte, Julie C [0000-0001-5642-648X], Wedrychowicz, Andrzej [0000-0003-1448-167X], Fulga, Tudor A [0000-0002-1056-0082], Karaminejadranjbar, Mohammad [0000-0002-7770-2065], Ahmed, Ahmed [0000-0001-6509-2581], Muise, Aleixo M [0000-0001-9624-3346], Wilson, David C [0000-0003-0879-1129], Apollo - University of Cambridge Repository, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de gastro-entérologie, Croft, Nicholas M. [0000-0002-1519-6435], Russell, Richard K. [0000-0001-7398-4926], Travis, Simon P. [0000-0002-2690-4361], Matte, Julie C. [0000-0001-5642-648X], Fulga, Tudor A. [0000-0002-1056-0082], Muise, Aleixo M. [0000-0001-9624-3346], Wilson, David C. [0000-0003-0879-1129], Eva Gonçalves, Serra, Tobias, Schwerd, Loukas, Moutsiana, Athena, Cavounidi, Laura, Fachal, Sumeet, Pandey, Jochen, Kammermeier, Nicholas M, Croft, Carsten, Posovszky, Astor, Rodrigue, Richard K, Russell, Farah, Barakat, Marcus K H, Auth, Robert, Heuschkel, Matthias, Zilbauer, Krzysztof, Fyderek, Christian, Braegger, Simon P, Travi, Jack, Satsangi, Miles, Parke, Nikhil, Thapar, Helen, Ferry, Julie C, Matte, Kimberly C, Gilmour, Andrzej, Wedrychowicz, Peter, Sullivan, Carmel, Moore, Jennifer, Sambrook, Willem, Ouwehand, David, Robert, John, Danesh, Toni A, Baeumler, Tudor A, Fulga, Mohammad, Karaminejadranjbar, Ahmed, Ahmed, Rachel, Wilson, Jeffrey C, Barrett, Abdul, Elkadri, Anne M, Griffith, Scott B, Snapper, Neil, Shah, Aleixo M, Muise, David C, Wilson, Holm H, Uhlig, Carl A, Anderson, Zurek, Marlen, Strisciuglio, Caterina, Elawad, Mamoun, Lo, Bernice, Arancibia-Carcamo, Carolina, Bailey, Adam, Barnes, Ellie, Bird-Lieberman, Elizabeth Louise, Brain, Oliver, Braden, Barbara, Collier, Jane, East, Jame, Howarth, Lucy, Keshav, Satish, Klenerman, Paul, Leedham, Simon, Palmer, Rebecca, Powrie, Fiona, Simmons, Alison, Walker, Matthew, Tolkien, Zoe, Kaptoge, Stephen, Allen, David, Mehenny, Susan, Mant, Jonathan, Di Angelantonio, Emanuele, Thompson, Simon G, Yilmaz, Bahtiyar, Juillerat, Pascal, Geuking, Marku, Wiest, Reiner, Macpherson, Andrew J, Bravo, Francisco Damian, Brügger, Luka, Carstens, Ove, Bigler, Ulrike Graf, Heimgartner, Benjamin, Rusticeanu, Monica, Schmid-Uebelhart, Sybille, Strebel, Bruno, Tatu, Aurora, Tutuian, Radu, Øyås, Ove, Ramon, Charlotte, Stelling, Jörg, Franc, Yannick, Fournier, Nicola, Pittet, Valerie E H, Burnand, Bernard, Egger, Mara, Golay, Delphine, Marot, Astrid, Musso, Leilla, Pittet, Valérie, Rossel, Jean-Benoît, Seematter, Vivianne, Sommer, Joachim, Vulliamy, Rachel, Michetti, Pierre, Maillard, Michel H, Keller, Céline, Nydegger, Andrea, Schoepfe, Alain, Archanioti, Eva, Ezri, Jessica, Fraga, Montserrat, Schoepfer, Alain, Müller, Christoph, Rogler, Gerhard, Biedermann, Luc, Blattmann, Mirjam, Burk, Sabine, Dora, Barbara, Fried, Michael, Misselwitz, Benjamin, Müllhaupt, Beat, Obialo, Nicole, Pohl, Daniel, Raschle, Nadia, Scharl, Michael, Vavricka, Stephan, Von Känel, Roland, Zeitz, Jona, Abdelrahman, Karim, Ademi, Gentiana, Borovicka, Jan, Brand, Stephan, Frei, Remu, Haarer, Johanne, Knellwolf-Grieger, Christina, Krieger-Grübel, Claudia, Künzler, Patrizia, Meyenberger, Christa, Meyer, Pamela, Röhrich, Nina, Sawatzki, Mikael, Schelling, Martin, Semadeni, Gian-Marco, Sulz, Michael, Zimmermann, Dorothee, Aepli, Patrick, Criblez, Dominique H, Hess, Cyrill, Richterich, Jean-Pierre, Spalinger, Johanne, Staudenmann, Dominic, Stulz, Andrea, Wöhrle, Stefanie, Thomas, Amman, Anderegg, Claudia, Köhler, Henrik, Kusche, Rachel, Antonino, Anca-Teodora, Arrigoni, Eviano, Bengoa, José M, Cunningham, Sophie, de Saussure, Philippe, Girard, Laurent, de Jong, Diana Bakker, Bastürk, Polat, Brunner, Simon, Degen, Luka, Hruz, Petr, Khalid-de Bakker, Carolina, Niess, Jan, Balsiger, Bruno, Haldemann, Janine, Saner, Gaby, Seibold, Frank, Bauerfeind, Peter, Becocci, Andrea, Belli, Dominique, Binek, Janek, Hengstler, Peter, Boehm, Stephan, Boldanov, Tujana, Bühr, Patrick, Koller, Rebekka, Rueger, Vanessa, Senning, Arne, Burri, Emanuel, Buyse, Sophie, Cao, Dahlia-Thao, D'Angelo, Fabrizia, Delarive, Joakim, Doerig, Christopher, Hessler, Roxane, Preissler, Claudia, Rentsch, Ronald, Risti, Branislav, Ritz, Marc Alain, Steuerwald, Michael, Vögtlin, Jürg, Sagmeister, Marku, Sauter, Bernhard, Schibli, Susanne, Sokollik, Christiane, Schlauri, Hugo, Schnegg, Jean-Françoi, Seirafi, Mariam, Spangenberger, Holger, Stadler, Philippe, Staub, Peter, Stenz, Volker, Tempia-Caliera, Michela, Thorens, Joël, Truninger, Kaspar, Urfer, Patrick, Viani, Francesco, Vouillamoz, Dominique, Zander, Silvan, Wyli, Tina, Jostins, L, Kennedy, N A, Ahmad, T, Lamb, C A, Edwards, C, Hart, A, Hawkey, C, Mansfield, J C, Mowat, C, Newman, W G, Simmons, A, Tremelling, M, Lee, J C, Prescott, N J, Mathew, C G, Lees, C W, Mcgovern, D P B, Targan, S R, Botwin, G, Mengesha, E, Fleshner, P, Landers, C, Li, D, Rioux, J D, Bitton, A, Côté-Daigneault, J, Daly, M J, Xavier, R, Morris, K, Boucher, G, Cho, J H, Abraham, C, Merad, M, Sands, B, Peter, I, Hao, K, Itan, Y, Duerr, R H, Konnikova, L, Schwartz, M B, Proksell, S, Johnston, E, Miladinova, V, Chen, W, Brant, S R, Datta, L, Silverberg, M S, Schumm, L P, Birch, S, Giri, M, Gettler, K, Sharma, Y, Stevens, C, Lazarev, M, Haritunians, T, Carrami, Eli M [0000-0002-7770-2065], COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Zurek, M., Strisciuglio, C., Elawad, M., Lo, B., Arancibia-Carcamo, C., Bailey, A., Barnes, E., Bird-Lieberman, E.L., Brain, O., Braden, B., Collier, J., East, J., Howarth, L., Keshav, S., Klenerman, P., Leedham, S., Palmer, R., Powrie, F., Simmons, A., Walker, M., Tolkien, Z., Kaptoge, S., Allen, D., Mehenny, S., Mant, J., Di Angelantonio, E., Thompson, S.G., Yilmaz, B., Juillerat, P., Geuking, M., Wiest, R., Macpherson, A.J., Bravo, F.D., Brügger, L., Carstens, O., Bigler, U.G., Heimgartner, B., Rusticeanu, M., Schmid-Uebelhart, S., Strebel, B., Tatu, A., Tutuian, R., Øyås, O., Ramon, C., Stelling, J., Franc, Y., Fournier, N., Pittet, VEH, Burnand, B., Egger, M., Golay, D., Marot, A., Musso, L., Pittet, V., Rossel, J.B., Seematter, V., Sommer, J., Vulliamy, R., Michetti, P., Maillard, M.H., Keller, C., Nydegger, A., Schoepfe, A., Archanioti, E., Ezri, J., Fraga, M., Schoepfer, A., Müller, C., Rogler, G., Biedermann, L., Blattmann, M., Burk, S., Dora, B., Fried, M., Misselwitz, B., Müllhaupt, B., Obialo, N., Pohl, D., Raschle, N., Scharl, M., Vavricka, S., Von Känel, R., Zeitz, J., Abdelrahman, K., Ademi, G., Borovicka, J., Brand, S., Frei, R., Haarer, J., Knellwolf-Grieger, C., Krieger-Grübel, C., Künzler, P., Meyenberger, C., Meyer, P., Röhrich, N., Sawatzki, M., Schelling, M., Semadeni, G.M., Sulz, M., Zimmermann, D., Aepli, P., Criblez, D.H., Hess, C., Richterich, J.P., Spalinger, J., Staudenmann, D., Stulz, A., Wöhrle, S., Thomas, A., Anderegg, C., Köhler, H., Kusche, R., Antonino, A.T., Arrigoni, E., Bengoa, J.M., Cunningham, S., de Saussure, P., Girard, L., de Jong, D.B., Bastürk, P., Brunner, S., Degen, L., Hruz, P., Bakker, C.K., Niess, J., Balsiger, B., Haldemann, J., Saner, G., Seibold, F., Bauerfeind, P., Becocci, A., Belli, D., Binek, J., Hengstler, P., Boehm, S., Boldanov, T., Bühr, P., Koller, R., Rueger, V., Senning, A., Burri, E., Buyse, S., Cao, D.T., D'Angelo, F., Delarive, J., Doerig, C., Hessler, R., Preissler, C., Rentsch, R., Risti, B., Ritz, M.A., Steuerwald, M., Vögtlin, J., Sagmeister, M., Sauter, B., Schibli, S., Sokollik, C., Schlauri, H., Schnegg, J.F., Seirafi, M., Spangenberger, H., Stadler, P., Staub, P., Stenz, V., Tempia-Caliera, M., Thorens, J., Truninger, K., Urfer, P., Viani, F., Vouillamoz, D., Zander, S., Wyli, T., Jostins, L., Kennedy, N.A., Ahmad, T., Lamb, C.A., Edwards, C., Hart, A., Hawkey, C., Mansfield, J.C., Mowat, C., Newman, W.G., Tremelling, M., Lee, J.C., Prescott, N.J., Mathew, C.G., Lees, C.W., McGovern, DPB, Targan, S.R., Botwin, G., Mengesha, E., Fleshner, P., Landers, C., Li, D., Rioux, J.D., Bitton, A., Côté-Daigneault, J., Daly, M.J., Xavier, R., Morris, K., Boucher, G., Cho, J.H., Abraham, C., Merad, M., Sands, B., Peter, I., Hao, K., Itan, Y., Duerr, R.H., Konnikova, L., Schwartz, M.B., Proksell, S., Johnston, E., Miladinova, V., Chen, W., Brant, S.R., Datta, L., Silverberg, M.S., Schumm, L.P., Birch, S., Giri, M., Gettler, K., Sharma, Y., Stevens, C., Lazarev, M., and Haritunians, T.

Subjects
0301 basic medicine, Male, Multifactorial Inheritance, General Physics and Astronomy, 631/208/1516, 13, Inflammatory bowel disease, Whole Exome Sequencing, Adult, Age of Onset, Case-Control Studies, Child, Child, Preschool, Cohort Studies, Female, Genes, Recessive, Genetic Predisposition to Disease, Genetic Variation, Humans, Infant, Infant, Newborn, Inflammatory Bowel Diseases/etiology, Inflammatory Bowel Diseases/genetics, Loss of Function Mutation, Mosaicism, Mutation, NADPH Oxidase 2/genetics, Pedigree, Primary Immunodeficiency Diseases/complications, Primary Immunodeficiency Diseases/genetics, Risk Factors, 0302 clinical medicine, Primary Immunodeficiency Disease, Medicine, lcsh:Science, Exome sequencing, 49/31, education.field_of_study, Multidisciplinary, Medical genetics, article, 692/699/249/1570, 631/250/249/2510/257, 631/208/248, 3. Good health, NADPH Oxidase 2, 030211 gastroenterology & hepatology, Case-Control Studie, Human, medicine.medical_specialty, Science, Primary Immunodeficiency Diseases, Population, 45/22, 45/23, digestive system, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Immunological deficiency syndromes, Exome Sequencing, Immunogenetics, Allele, education, 45, business.industry, Risk Factor, Inflammatory Bowel Disease, Case-control study, General Chemistry, medicine.disease, Inflammatory Bowel Diseases, digestive system diseases, 49, 030104 developmental biology, Immunology, Primary immunodeficiency, lcsh:Q, Age of onset, Cohort Studie, business
Abstract

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 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with a mosaic de novo, pathogenic allele in CYBB. The mutation is present in ~70% of phagocytes and sufficient to result in defective bacterial handling but not life-threatening infections. Finally, we show that VEO-IBD patients have, on average, higher IBD polygenic risk scores than population controls (99 patients and 18,780 controls; P, Adult forms of inflammatory bowel disease (IBD) are of a polygenic nature, but paediatric and very early onset (VEO) IBD also occur as monogenic forms. Here, using whole exome sequencing, the authors explore both the monogenic and polygenic contribution to VEO-IBD and characterize a rare somatic mosaic VEO-IBD patient.

Published
2020

40. Molecular and Histological Profiling Reveals an Innate-Shaped Immune Microenvironment in Solitary Juvenile Polyps.

Author

Zysset D, Montani M, Spalinger J, Schibli S, Zlobec I, Mueller C, and Sokollik C

Subjects
Adolescent, Case-Control Studies, Child, Child, Preschool, Colonic Polyps metabolism, Colonoscopy, Cytokines metabolism, Eosinophils pathology, Female, Humans, Inflammatory Bowel Diseases metabolism, Leukocyte L1 Antigen Complex metabolism, Male, RNA, Messenger analysis, Recurrence, T-Lymphocytes pathology, Colonic Polyps pathology, Eosinophils metabolism, Inflammatory Bowel Diseases pathology, T-Lymphocytes metabolism
Abstract

Introduction: Solitary juvenile polyps (JP) are characterized by a benign disease course with low recurrence rate but present with signs of intestinal inflammation. To better understand the underlying pathogenesis, we performed histological and molecular evaluation targeting distinct immune mechanisms., Methods: Pediatric patients with JP (n = 12), with treatment-naïve inflammatory bowel disease (IBD; [n = 41]) as inflammatory control, and non-IBD controls (n = 14) were investigated. For a comparative analysis of infiltrating immune cells, a next-generation tissue microarray of biopsies was assembled, immunostained, and scored. Targeted transcriptional profiling was performed using a customized immunology panel., Results: In JP, a predominant accumulation of neutrophils and eosinophils was observed. RNA expression profiles revealed increased levels of CXCL8, CXCL5, and CCL11 transcripts in JP, indicating an enhanced recruitment of neutrophils and eosinophils. Moreover, messenger RNA levels of the proinflammatory cytokine IL1b and the inflammation-amplifying receptor TREM1 were higher in JP, whereas we could not find signs of a functionally polarized Tcell response in JP when compared with IBD., Discussion: Patients with JP and patients with treatment-naïve IBD have distinct cell infiltrates during active disease. The ample presence of eosinophils in JP supports neutrophil accumulation, which is responsible for the elevated release of calprotectin. Intriguingly, however, we were not able to identify a functionally polarized T-cell response in JP, which indicates that during the acute onset of inflammation in JP, a potent adaptive immune memory is not established. This may explain the low reoccurrence rate of JP., (Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology.)

Published
2021
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41. A Near Miss and Salvage Management of Aortoesophageal Fistula Secondary to Cell Battery Ingestion.

Author

Bartkevics M, Stankovic Z, Schibli S, Fluri S, Berger S, Schmidli J, and Kadner A

Subjects
Aortic Diseases diagnostic imaging, Aortic Diseases surgery, Diagnosis, Differential, Esophageal Fistula diagnostic imaging, Esophageal Fistula surgery, Female, Humans, Infant, Magnetic Resonance Imaging, Near Miss, Healthcare, Tomography, X-Ray Computed, Vascular Fistula diagnostic imaging, Vascular Fistula surgery, Aortic Diseases diagnosis, Esophageal Fistula diagnosis, Foreign Bodies, Vascular Fistula diagnosis
Abstract

We report a case of an infant surviving aortoesophageal fistula secondary to lithium cell battery ingestion. In the setting of a delayed vascular complication, computed tomography and magnetic resonance imaging are essential to establishing the correct diagnosis and surgical management. Management of children after battery ingestion must be guided by a high index of clinical suspicion.

Published
2020
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42. Evidence of a generalized defect of acinar cell function in Shwachman-Diamond syndrome.

Author

Stormon MO, Ip WF, Ellis L, Schibli S, Rommens JM, and Durie PR

Subjects
Adolescent, Adult, Bone Marrow Diseases enzymology, Bone Marrow Diseases genetics, Breath Tests, Case-Control Studies, Child, Child, Preschool, Chlorides metabolism, Cystic Fibrosis enzymology, Exocrine Pancreatic Insufficiency enzymology, Exocrine Pancreatic Insufficiency genetics, Female, Humans, Hydrogen, Isoamylase genetics, Isoamylase pharmacology, Lipomatosis, Male, Pancreas, Exocrine cytology, Pancreatitis enzymology, Parotid Gland cytology, Shwachman-Diamond Syndrome, Starch administration & dosage, Young Adult, Isoamylase blood, Pancreas, Exocrine enzymology, Parotid Gland enzymology, Starch metabolism
Abstract

Background: : Because the acinar cells of the exocrine pancreas in patients with Shwachman-Diamond syndrome (SDS) are severely depleted, we hypothesized that a similar deficiency may be present in acinar cells of the parotid gland., Patients and Methods: : We determined serum pancreatic isoamylase and parotid amylase activities in 16 patients with SDS, 13 healthy controls, and 13 disease controls (cystic fibrosis or fibrosing pancreatitis). Parotid amylase and electrolyte concentrations were measured in stimulated parotid gland secretions. Starch digestion was assessed by breath hydrogen testing in patients with SDS (with and without enzyme supplements) and healthy controls., Results: : Serum pancreatic and parotid isoamylase values were lower in the patients with SDS than in the healthy controls (P < 0.0001 and P = 0.0002, respectively). Serum pancreatic isoamylase, but not parotid isoamylase, was significantly lower in the disease controls than in the healthy controls (P < 0.0001 and P = 0.17, respectively). Secreted parotid gland amylase concentration (units per milligram of protein) in patients with SDS was lower than that in the healthy controls (P = 0.04), whereas the disease controls were comparable to the healthy subjects (P = 0.09). Secreted parotid chloride concentration was inversely correlated with amylase concentration in the patients with SDS (P = 0.01), but no correlation was seen in the healthy controls or disease controls. When patients with SDS ingested starch without enzyme supplementation, their breath hydrogen excretion was significantly higher than that in the healthy controls (P = 0.009). Following starch ingestion with enzymes, breath hydrogen in the patients with SDS was lower (P < 0.05) than with no enzyme treatment, and no different from controls (P = 0.37)., Conclusions: : Mutations in the SBDS gene cause a generalized functional abnormality of exocrine acinar cells.

Published
2010
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