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1. Scientific Proceedings Second International Symposium on Cytostatic Drug Resistance

Author

Hill, Bridget T., Hosking, L. K., McClean, S., Shellard, S. A., Dempke, W. C. M., Whelan, R. D. H., Sehested, M., Friche, E., Demant, E. J. F., Jensen, P. B., Kopnin, B. P., Wolf, B., Seidel, A., Nickelsen, M., Brandt, I., Heinemann, G., Dietel, M., Bremer, S., Hoof, T., Tümmler, B., Broxterman, H. J., Versantvoort, C. H. M., Kuiper, C. M., Feller, N., Schuurhuis, G. J., Lankelma, J., Gupta, S., Tsuruo, T., Kim, C., Gollapudi, S., Bittl, A., Nap, M., Jäger, W., Lathan, B., Lang, N., Raikhlin, N. T., Perevozchikov, A. G., Volodina, J. L., Licht T., Fiebig H. H., Bross K. J., Herrmann F., Mertelsmann R., Bashir, I., Sikora, K., Foster, C. S., Castagna, M., Viacava, P., Cianfrigliao, M., Favati, A., Collecchi, P., Caligo, M. A., Cipollini, G., Bevilacqua, G., Schrenk, D., Gant, T. W., Silverman, J. A., Thorgeirsson, S. S., Harstrick, A., Zhang, Z. G., Schmoll, H. J., Rustum, Y., Mitze, M., Beck, T., Weikel, W., Brumm, C., Knapstein, P. G., McDonald, T., Gardner, P., Kang, N., van der Heyden, S. A. M., Elst, H. J., Stein, U., Jandrig, B., Krause, H., Schmidt-Peter, P., Frege, J., Wunderlich, V., Boven, E., van Kalken, C. K., Pinedo, H. M., Gebauer, W., Fallgren-Gebauer, E., Diete, M., Wagner, T., Müller, M. R., Lennartz, K., Nowrousian, H. R., Seeber, S., Shtil, A. A., Kazarov, A. R., Gudkov, A. V., Stavrovskaya, A. A., Djuraeva, F. H., Stromskaya, T. P., Noller, A., Frese, G., Neumann, M., Wilisch, A., Probst, H., Gekeler, V., Handgretinger, R., Schmidt, H., Muller, C. P., Dopfer, R., Klingebiel, T., Niethammer, D., Weger, S., Diddens, H., Daumiller, E., Bunge, A., Lilischkis, R., Salmassi, A., Kopun M., Scherthan H., Granzow C., Leuschner, I., Schmidt, D., Hoffmann, H., Harms, D., Scagliotli, G. V., Leonardo, E., Cappia, S., Esposito, G., Tombesi, M., Cianfriglia, M., Esposito, G. V., Merendino, N., Viora, M., Caserta, M., Tritarelli, E., Rocca, E., Boccoli, G., Samoggia, P., Fossati, C., Testa, U., Peschle, C., Darling, J. L., Ashmore, S. M., Peterson, D. C., Thomas, D. G. T., Kramer, R. A., Stanlunas, R., Summerhayes, T., Lion, T., Shoemaker, R. H., Wu, L., Smythe, A., Boyd, M. R., Beck, W. T., Danks, M. K., Wolverton, J. S., Chen, M., Bugg, B. Y., Suttle, D. P., Catapano, C. V., Fernandes, D. J., Gieseler, F., Boege, F., Erttmann, R., Arps, H., Zwelling, L., Wilms, K., Biersack, H., Kaspers, G. J. L., Pieters, R., Klumper, E., de Waal, F. C., van Wering, E. R., Veerman, A. J. P., Schmidt, C. A., Lorenz, F., Schäfer, A., Kirsch, A., Siegert, W., Huhn, D., Simon, W. E., Siebert, G., Schneider, M., Oettling, M., Reymann, A., Entmann, R., Schmidt, S., Woermann, C., Windmeier, C., Herzig, I., Schaefer, B., Heidebrecht, H. J., Wacker, H. H., Künnemann, H., van Heijningen, Th. H. M., Slovak, M. L., Baak, J. P. A., Steidtmann, K., Fichtinger-Schepman, A. -M. J., Hill, B. I., Scanlon, K. J., Zeller, W. J., Chen, G., Gietema, J. A., de Vries, E. G. E, Sleijfer, D.Th, Willemse, P. H. B., Guchelaar, H. J., Uges, D. R. A., Aulenbacher, P., Voegeli, R., Mulder, N. H., Skrezek, C., Bertermann, H., Eichholtz-Wirth, H., Born, R., Bier, H., Koch, M., Bernhardt, G., Hählen, K., Reile, H., van Zantwijk, C. H., Wering, E. R. van, Görögh, T., Lippert, B., Werner, J. A., Eickbohm, J. E., Mickiseh, G. H., Gottesman, M. M., Pastan, I., Hofmann, J., Wolf, A., Spitaler, M., Bock, G., Grunicke, H., Ponstingl, H., Roth, I., Granzow, C., Dörner, C., Erttmann, R., Looft, G., Ossenkoppele, G. J., Scheffer, G. L., Atassi, G., Pierre, A., Kraus, L., Leonce, S., Regnier, G., Dhainaut, A., Ponstingl H., Stöhr M., Rohlff, C., Glazer, R. I., Cho-Chung, Y. S., Höllt, V., Kouba, M., Vogt, G., Allmeier, H., Nissen, N. I., Cros, S., Guilbaud, N., Dunn, T., Berlion, M., Atassi, G., Bizzari, J. P., Messing, A. M., Matuschek, A., Mutter, I., Kiwit, J. C. W., Bastian, L., Goretzki, P. E., Frilling, A., Simon, D., Röher, H. D., Reichle, A., Altmayr, F., Rastetter, J., Erbil, C., Jaques, G., Maasberg, M., Havemann, K., Häußermann, K., Heidebrecht, H. -J., Van de Vrie, W., Gheuens, E. E. O., Durante, N. M. C., De Bruijn, E. A., Marquet, R. L., Van Oosterom, A. T., Eggermont, A. M. M., Stow, M. W., Vickers, S. E., Warr, J. R., Roller, E., Eichelbaum, M., Klumpp, B., Krause, J., Schumacher, K., Hörner, S., Laßmann, A., Traugott, U., Schlick, E., Bürkle, D., Futscher BW, List AF, Dalton WS, Ladda, E., Bühl, K., Weimer, A., Eser, C., Hamprecht, K., Schalk, K. P., Jackisch, C., Brandt, B., Blum, M., Louwen, F., Schulz, K., Hanker, J. P., Rüther, U., Schmidt, A., Müller, H. A. G., Nunnensiek, C., Bader, H., Eisenberger, F., Jipp, P., Niethammer, B., Muller, C., Ling, V., Joncourt, F., Redmond, S., Stöhr, M., Buser, K., Fey, M., Tobler, A., Brunner, K., Gratwohl, A., Cerrry, T., Nuessler, V., Pelka-Fleischer, R., Nerl, C., Beckert, B., Wilmanns, W., Hegewisch-Becker, S., Fliegner, M., Zander, A., Hossfeld, D. K., Blanz, J., Mewes, K., Ehninger, G., Zeller, K. -P., Schuldes, H., Herrmann, G., Boeckmann, W., Schroeder, R., Jonas, D., Zurborn, K. -H., Bruhn, H. D., Uharek, L., Glass, B., Gassmann, W., Loeffler, H., Mueller-Ruohholtz, W., Gassmann W., Glass B., Uharek L., Loeffler H., Mueller-Ruchholtz W., Jaquet, K., Kreipe, H., Felgner, J., Radzun, H. J., Parwaresch, M. R., Kogan EA, Mazurenko NN, Sekamova SM, Wolf, H., Röhe, K., Wilkens, K., Clausen, M., Henze, E., van der Bosch, J., Rüller, S., Schlaak, M., Köhl, U., Schwabe, D., Rohrbach, E., Montag, E., Bauer, S., Cinatl, J., Cinatl, Jr, I., Mainke, M., Geiss, H., Kornhuber, B., Juhl, H., Stritzel, H., Kalhoff, H., Schniegel, W., Menke, T., Pröbsting, B., Schulze-Westhoff, P., Boos, J., Weidner, J., Wedemeyer, N., Wiedorn, K., Ueda, Y., Blasius, S., Wuisman, P., Böcker, W., Roessner, A., Dockhorn-Dworniczak, B., Ramm, D., Knebel, J., Sass, W., Aufderheide, M., and Seifert, J.

Published
1991
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2. The impact of the rs8005161 polymorphism on G protein-coupled receptor GPR65 (TDAG8) pH-associated activation in intestinal inflammation

Author

Tcymbarevich I, Eloranta J, Spalinger M, Cosin-Roger J, Lang S, Kullak-Ublick G, Wagner C, Seuwen K, Ruiz P, de Valliere C, Abdelrahman K, Ademi G, Aepli P, Thomas A, Anderegg C, Antonino A, Archanioti E, Arrigoni E, de Jong D, Balsiger B, Basturk P, Bauerfeind P, Becocci A, Belli D, Bengoa J, Biedermann L, Binek J, Blattmann M, Boehm S, Boldanova T, Borovicka J, Braegger C, Brand S, Brugger L, Brunner S, Buhr P, Burnand B, Burk S, Burri E, Buyse S, Cao D, Carstens O, Criblez D, Cunningham S, D'Angelo F, de Saussure P, Degen L, Delarive J, Doerig C, Dora B, Drerup S, Egger M, El-Wafa A, Engelmann M, Ezri J, Felley C, Fliegner M, Fournier N, Fraga M, Franc Y, Frei P, Frei R, Fried M, Froehlich F, Furlano R, Garzoni L, Geyer M, Girard L, Girardin M, Golay D, Good I, Bigler U, Gysi B, Haarer J, Halama M, Haldemann J, Heer P, Heimgartner B, Helbling B, Hengstler P, Herzog D, Hess C, Hessler R, Heyland K, Hinterleitner T, Hirschi C, Hruz P, Juillerat P, Khalid-de Bakker C, Kayser S, Keller C, Knellwolf-Grieger C, Knoblauch C, Kohler H, Koller R, Krieger-Grubel C, Kunzler P, Kusche R, Lehmann F, Macpherson A, Maillard M, Manz M, Marot A, Meier R, Meyenberger C, Meyer P, Michetti P, Misselwitz B, Mosler P, Mottet C, Muller C, Mullhaupt B, Musso L, Neagu M, Nichita C, Niess J, Nydegger A, Obialo N, Ollo D, Oropesa C, Peter U, Peternac D, Petit L, Pittet V, Pohl D, Porzner M, Preissler C, Raschle N, Rentsch R, Restellini A, Restellini S, Richterich J, Ris F, Risti B, Ritz M, Rogler G, Rohrich N, Rossel J, Rueger V, Rusticeanu M, Sagmeister M, Saner G, Sauter B, Sawatzki M, Scharl M, Schelling M, Schibli S, Schlauri H, Schluckebier D, Schmid D, Schmid-Uebelhart S, Schnegg J, Schoepfer A, Seematter V, Seibold F, Seirafi M, Semadeni G, Senning A, Sokollik C, Sommer J, Spalinger J, Spangenberger H, Stadler P, Staub P, Staudenmann D, Stenz V, Steuerwald M, Straumann A, Strebel B, Stulz A, Sulz M, Tatu A, Tempia-Caliera M, Thorens J, Truninger K, Tutuian R, Urfer P, Vavricka S, Viani F, Vogtlin J, Von Kanel R, Vouillamoz D, Vulliamy R, Wiesel P, Wiest R, Wohrle S, Zamora S, Zander S, Wylie T, Zeitz J, Zimmermann D, and Swiss IBD Cohort Study Grp

Subjects
UC, pH-sensing, cAMP, IBD, Acidic pH, RhoA, Inflammatory bowel diseases, CD
Abstract

BackgroundTissue inflammation in inflammatory bowel diseases (IBD) is associated with a decrease in local pH. The gene encoding G-protein-coupled receptor 65 (GPR65) has recently been reported to be a genetic risk factor for IBD. In response to extracellular acidification, proton activation of GPR65 stimulates cAMP and Rho signalling pathways. We aimed to analyse the clinical and functional relevance of the GPR65 associated single nucleotide polymorphism (SNP) rs8005161.Methods1138 individuals from a mixed cohort of IBD patients and healthy volunteers were genotyped for SNPs associated with GPR65 (rs8005161, rs3742704) and galactosylceramidase (rs1805078) by Taqman SNP assays. 2300 patients from the Swiss IBD Cohort Study (SIBDC) were genotyped for rs8005161 by mass spectrometry based SNP genotyping. IBD patients from the SIBDC carrying rs8005161 TT, CT, CC and non-IBD controls (CC) were recruited for functional studies. Human CD14+ cells were isolated from blood samples and subjected to an extracellular acidic pH shift, cAMP accumulation and RhoA activation were measured.ResultsIn our mixed cohort, but not in SIBDC patients, the minor variant rs8005161 was significantly associated with UC. In SIBDC patients, we observed a consistent trend in increased disease severity in patients carrying the rs8005161-TT and rs8005161-CT alleles. No significant differences were observed in the pH associated activation of cAMP production between IBD (TT, CT, WT/CC) and non-IBD (WT/CC) genotype carriers upon an acidic extracellular pH shift. However, we observed significantly impaired RhoA activation after an extracellular acidic pH shift in IBD patients, irrespective of the rs8005161 allele.ConclusionsThe T allele of rs8005161 might confer a more severe disease course in IBD patients. Human monocytes from IBD patients showed impaired pH associated RhoA activation upon an acidic pH shift.

Published
2019

3. 17-jähriger Mann mit akuten Bauchschmerzen, Hämatochezie und Exanthem

Author

Dürr, D., Baia, R., Maurer, R., Lautenschlager, S., Schnider, A., Fliegner, M., Dürr, D., Baia, R., Maurer, R., Lautenschlager, S., Schnider, A., and Fliegner, M.

Abstract

Zusammenfassung: Ein 17-jähriger Patient stellte sich mit kolikartigen abdominellen Schmerzen und Diarrhö vor. Als weitere Symptome traten Petechien, Arthralgien und eine Hämatochezie auf. Sonographisch bestand eine auffällige Ileozökalregion. Endoskopisch fand sich eine Ileitis terminalis, und histologisch zeigte sich hier eine leukozytoklastische Vaskulitis mit IgA-Ablagerungen. Die Kasuistik zeigt exemplarisch die mehrzeitige klinische Manifestation der Purpura Schönlein-Henoch und deren Verlauf

Published
2018

8. 17-jähriger Mann mit akuten Bauchschmerzen, Hämatochezie und Exanthem

Author

Dürr, D., Baia, R., Maurer, R., Lautenschlager, S., Schnider, A., Fliegner, M., Dürr, D., Baia, R., Maurer, R., Lautenschlager, S., Schnider, A., and Fliegner, M.

Abstract

Zusammenfassung: Ein 17-jähriger Patient stellte sich mit kolikartigen abdominellen Schmerzen und Diarrhö vor. Als weitere Symptome traten Petechien, Arthralgien und eine Hämatochezie auf. Sonographisch bestand eine auffällige Ileozökalregion. Endoskopisch fand sich eine Ileitis terminalis, und histologisch zeigte sich hier eine leukozytoklastische Vaskulitis mit IgA-Ablagerungen. Die Kasuistik zeigt exemplarisch die mehrzeitige klinische Manifestation der Purpura Schönlein-Henoch und deren Verlauf

9. The personality traits activity, self-reproach, and negative affect jointly predict clinical recurrence, depressive symptoms, and low quality of life in inflammatory bowel disease patients

Author

Sebastian Bruno Ulrich, Jordi, Brian Matthew, Lang, Jacqueline, Wyss, Bianca, Auschra, Bahtiyar, Yilmaz, Niklas, Krupka, Thomas, Greuter, Philipp, Schreiner, Luc, Biedermann, Martin, Preisig, Roland, von Känel, Gerhard, Rogler, Stefan, Begré, Benjamin, Misselwitz, Dorothee, Zimmermann, Swiss IBD cohort study group, Anderegg, C., Bauerfeind, P., Beglinger, C., Begré, S., Belli, D., Bengoa, J.M., Biedermann, L., Bigler, B., Binek, J., Blattmann, M., Boehm, S., Borovicka, J., Braegger, C.P., Brunner, N., Bühr, P., Burnand, B., Burri, E., Buyse, S., Cremer, M., Criblez, D.H., de Saussure, P., Degen, L., Delarive, J., Doerig, C., Dora, B., Dorta, G., Egger, M., Ehmann, T., El-Wafa, A., Engelmann, M., Ezri, J., Felley, C., Fliegner, M., Fournier, N., Fraga, M., Frei, P., Frei, R., Fried, M., Froehlich, F., Funk, C., Furlano, R.I., Gallot-Lavallée, S., Geyer, M., Girardin, M., Golay, D., Grandinetti, T., Gysi, B., Haack, H., Haarer, J., Helbling, B., Hengstler, P., Herzog, D., Hess, C., Heyland, K., Hinterleitner, T., Hiroz, P., Hirschi, C., Hruz, P., Iwata, R., Jost, R., Juillerat, P., Brondolo, V.K., Knellwolf, C., Knoblauch, C., Köhler, H., Koller, R., Krieger-Grübel, C., Kullak-Ublick, G., Künzler, P., Landolt, M., Lange, R., Lehmann, F.S., Macpherson, A., Maerten, P., Maillard, M.H., Manser, C., Manz, M., Marbet, U., Marx, G., Matter, C., McLin, V., Meier, R., Mendanova, M., Meyenberger, C., Michetti, P., Misselwitz, B., Moradpour, D., Morell, B., Mosler, P., Mottet, C., Müller, C., Müller, P., Müllhaupt, B., Münger-Beyeler, C., Musso, L., Nagy, A., Neagu, M., Nichita, C., Niess, J., Noël, N., Nydegger, A., Obialo, N., Oneta, C., Oropesa, C., Peter, U., Peternac, D., Petit, L.M., Piccoli-Gfeller, F., Pilz, J.B., Pittet, V., Raschle, N., Rentsch, R., Restellini, S., Richterich, J.P., Rihs, S., Ritz, M.A., Roduit, J., Rogler, D., Rogler, G., Rossel, J.B., Sagmeister, M., Saner, G., Sauter, B., Sawatzki, M., Schäppi, M., Scharl, M., Schelling, M., Schibli, S., Schlauri, H., Uebelhart, S.S., Schnegg, J.F., Schoepfer, A., Seibold, F., Seirafi, M., Semadeni, G.M., Semela, D., Senning, A., Sidler, M., Sokollik, C., Spalinger, J., Spangenberger, H., Stadler, P., Steuerwald, M., Straumann, A., Straumann-Funk, B., Sulz, M., Thorens, J., Tiedemann, S., Tutuian, R., Vavricka, S., Viani, F., Vögtlin, J., von Känel, R., Vonlaufen, A., Vouillamoz, D., Vulliamy, R., Wermuth, J., Werner, H., Wiesel, P., Wiest, R., Wylie, T., Zeitz, J., and Zimmermann, D.

Subjects
Cohort Studies, Humans, Personality Inventory, Quality of Life, Depression/epidemiology, Personality, Chronic Disease, Inflammatory Bowel Diseases, Five-factor model, Flares, IBD, NEO-FFI, Depression, Gastroenterology, 610 Medicine & health
Abstract

Background The bidirectional “gut-brain axis” has been implicated in the pathogenesis of inflammatory bowel diseases (IBD). While the influence of stress and depressive symptoms on IBD is well-characterized, the role of personality remains insufficiently investigated. Methods Personality was assessed in 1154 Swiss IBD cohort study (SIBDCS) patients via the NEO-Five-Factor Inventory (NEO-FFI) as well as in 2600 participants of the population-based CoLaus¦PsyCoLaus cohort study (NEO-FFI-revised). The NEO-FFI subcomponents activity, self-reproach and negative affect were associated with higher IBD disease activity and were combined to a NEO-FFI risk score. This risk score was validated and its effect on clinical IBD course and psychological endpoints was analysed in time-to-event and cumulative incidence analyses. Results In time-to-event analyses, a high NEO-FFI risk score was predictive for the clinical endpoints of new extraintestinal manifestation [EIM, adjusted hazard ratio (aHR) = 1.64, corrected p value (q) = 0.036] and two established composite flare endpoints (aHR = 1.53–1.63, q = 0.003–0.006) as well as for the psychological endpoints depressive symptoms (aHR = 7.06, q q r = 0.03–0.14). Conclusions Personality assessed by the NEO-FFI contained considerable predictive power for disease recurrence, depressive symptoms and low quality of life in IBD patients. Nevertheless, the personalities of IBD patients did not substantially differ from the general population.

Published
2022
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10. Genotype–phenotype associations of polymorphisms within the gene locus of NOD-like receptor pyrin domain containing 3 in Swiss inflammatory bowel disease patients

Author

Yoganathan, Priyatharsan, Rossel, Jean-Benoit, Jordi, Sebastian Bruno Ulrich, Franc, Yannick, Biedermann, Luc, Misselwitz, Benjamin, Hausmann, Martin, Rogler, Gerhard, Scharl, Michael, Frey-Wagner, Isabelle, Swiss IBD cohort study group, Marot, Astrid, Ris, Frédéric, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de gastro-entérologie, University of Zurich, Frey-Wagner, Isabelle, Swiss IBD cohort study group, Abdelrahman, K., Ademi, G., Aepli, P., Thomas, A., Anderegg, C., Antonino, A.T., Archanioti, E., Arrigoni, E., de Jong, D.B., Balsiger, B., Bastürk, P., Bauerfeind, P., Becocci, A., Belli, D., Bengoa, J.M., Biedermann, L., Binek, J., Blattmann, M., Boehm, S., Boldanova, T., Borovicka, J., Braegger, C.P., Brand, S., Brügger, L., Brunner, S., Bühr, P., Burnand, B., Burk, S., Burri, E., Buyse, S., Cao, D.T., Carstens, O., Criblez, D.H., Cunningham, S., D'Angelo, F., de Saussure, P., Degen, L., Delarive, J., Doerig, C., Dora, B., Drerup, S., Egger, M., El-Wafa, A., Engelmann, M., Ezri, J., Felley, C., Fliegner, M., Fournier, N., Fraga, M., Franc, Y., Frei, P., Frei, R., Fried, M., Froehlich, F., Furlano, R.I., Garzoni, L., Geyer, M., Girard, L., Girardin, M., Golay, D., Good, I., Bigler, U.G., Gysi, B., Haarer, J., Halama, M., Haldemann, J., Heer, P., Heimgartner, B., Helbling, B., Hengstler, P., Herzog, D., Hess, C., Hessler, R., Heyland, K., Hinterleitner, T., Hirschi, C., Hruz, P., Juillerat, P., Bakker, C.K., Kayser, S., Keller, C., Grieger, C.K., Knoblauch, C., Köhler, H., Koller, R., Krieger-Grübel, C., Künzler, P., Kusche, R., Lehmann, F.S., Macpherson, A., Maillard, M.H., Manz, M., Marot, A., Meier, R., Meyenberger, C., Meyer, P., Michetti, P., Misselwitz, B., Mosler, P., Mottet, C., Müller, C., Müllhaupt, B., Musso, L., Neagu, M., Nichita, C., Niess, J., Nydegger, A., Obialo, N., Ollo, D., Oropesa, C., Peter, U., Peternac, D., Petit, L.M., Pittet, V., Pohl, D., Porzner, M., Preissler, C., Raschle, N., Rentsch, R., Restellini, A., Restellini, S., Richterich, J.P., Ris, F., Risti, B., Ritz, M.A., Rogler, G., Röhrich, N., Rossel, J.B., Rueger, V., Rusticeanu, M., Sagmeister, M., Saner, G., Sauter, B., Sawatzki, M., Scharl, M., Schelling, M., Schibli, S., Schlauri, H., Schluckebier, D., Schmid, D., Uebelhart, S.S., Schnegg, J.F., Schoepfer, A., Seematter, V., Seibold, F., Seirafi, M., Semadeni, G.M., Senning, A., Sokollik, C., Sommer, J., Spalinger, J., Spangenberger, H., Stadler, P., Staub, P., Staudenmann, D., Stenz, V., Steuerwald, M., Straumann, A., Strebel, B., Stulz, A., Sulz, M., Tatu, A., Tempia-Caliera, M., Thorens, J., Truninger, K., Tutuian, R., Urfer, P., Vavricka, S., Viani, F., Vögtlin, J., Von Känel, R., Vouillamoz, D., Vulliamy, R., Wiesel, P., Wiest, R., Wöhrle, S., Zamora, S., Zander, S., Wylie, T., Zeitz, J., and Zimmermann, D.

Subjects
Genotype, NLR Proteins, 610 Medicine & health, Single-nucleotide polymorphism, RC799-869, Disease, Polymorphism, Single Nucleotide, Inflammatory bowel disease, Pyrin domain, Cohort Studies, NLR Family, Pyrin Domain-Containing 3 Protein, Genetic variation, medicine, Humans, 2715 Gastroenterology, Genetic Predisposition to Disease, Allele, Gene, Genetic Association Studies, integumentary system, ddc:617, Clinical characteristics, 10179 Institute of Medical Microbiology, business.industry, Gastroenterology, Pyrin Domain, Single nucleotide polymorphisms, General Medicine, Diseases of the digestive system. Gastroenterology, Inflammatory Bowel Diseases, medicine.disease, Ulcerative colitis, Colitis, Ulcerative/genetics, Switzerland, NLRP3 inflammasome, 10219 Clinic for Gastroenterology and Hepatology, 10036 Medical Clinic, Immunology, Colitis, Ulcerative, 610 Medizin und Gesundheit, business, Research Article
Abstract

Background Genetic variations within the regulatory region of the gene encoding NOD-like receptor pyrin domain containing 3 (NLRP3) have been associated with Crohn’s Disease (CD). NLRP3 is part of the NLRP3-inflammasome that mediates the maturation of IL-1β and IL-18. Carrying the major allele of the single nucleotide polymorphisms (SNPs) rs10733113, rs4353135 and rs55646866 is associated with an increased risk for CD. We here studied the impact of these polymorphisms on clinical characteristics in patients of the Swiss IBD Cohort Study (SIBDCS). Methods We included 981 Crohn’s disease (CD) patients and 690 ulcerative colitis (UC) patients of the SIBDCS. We analyzed whether three CD-associated NLRP3 polymorphisms have an impact on the clinical disease course in these patients. Results In CD patients presence of the major allele (G) of rs10733113 was associated with less surgeries and lower maximal CDAI and a similar trend was observed for rs55646866 and rs4353135. Presence of the major allele of all three SNPs was negatively correlated to maximal CDAI. In UC patients homozygous genotype for the major allele (CC) for rs55646866 was associated with a higher age at diagnosis and a higher MTWAI index. Homozygous genotype for the major allele of all three polymorphisms was associated with a higher number of ambulatory visits and longer hospital stays. Conclusions In CD patients presence of the major allele of all three polymorphisms was associated with markers of a less severe disease course, while in UC the homozygous genotype for all major alleles suggested a more severe disease activity.

Published
2021
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11. Abdominal pain in patients with inflammatory bowel disease: association with single-nucleotide polymorphisms prevalent in irritable bowel syndrome and clinical management

Author

Luc Biedermann, Alexander Siebenhüner, Philipp Schreiner, René Roth, Benjamin Misselwitz, Martina Ledergerber, Brian M. Lang, Niklas Krupka, Thomas Greuter, Henriette Heinrich, Stefan Begré, Andreas Rickenbacher, Stephan R. Vavricka, Jonas Zeitz, Matthias Turina, Niko Beerenwinkel, Gerhard Rogler, Swiss IBD Cohort Study Group, Anderegg, C., Bauerfeind, P., Beglinger, C., Begré, S., Belli, D., Bengoa, J.M., Biedermann, L., Bigler, B., Binek, J., Blattmann, M., Boehm, S., Borovicka, J., Braegger, C.P., Brunner, N., Bühr, P., Burnand, B., Burri, E., Buyse, S., Cremer, M., Criblez, D.H., de Saussure, P., Degen, L., Delarive, J., Doerig, C., Dora, B., Dorta, G., Egger, M., Ehmann, T., El-Wafa, A., Engelmann, M., Ezri, J., Felley, C., Fliegner, M., Fournier, N., Fraga, M., Frei, P., Frei, R., Fried, M., Froehlich, F., Funk, C., Furlano, R.I., Gallot-Lavallée, S., Geyer, M., Girardin, M., Golay, D., Grandinetti, T., Gysi, B., Haack, H., Haarer, J., Helbling, B., Hengstler, P., Herzog, D., Hess, C., Heyland, K., Hinterleitner, T., Hiroz, P., Hirschi, C., Hruz, P., Iwata, R., Jost, R., Juillerat, P., Brondolo, V.K., Knellwolf, C., Knoblauch, C., Köhler, H., Koller, R., Krieger-Grübel, C., Kullak-Ublick, G., Künzler, P., Landolt, M., Lange, R., Lehmann, F.S., Macpherson, A., Maerten, P., Maillard, M.H., Manser, C., Manz, M., Marbet, U., Marx, G., Matter, C., McLin, V., Meier, R., Mendanova, M., Meyenberger, C., Michetti, P., Misselwitz, B., Moradpour, D., Morell, B., Mosler, P., Mottet, C., Müller, C., Müller, P., Müllhaupt, B., Münger-Beyeler, C., Musso, L., Nagy, A., Neagu, M., Nichita, C., Niess, J., Noël, N., Nydegger, A., Obialo, N., Oneta, C., Oropesa, C., Peter, U., Peternac, D., Petit, L.M., Piccoli-Gfeller, F., Pilz, J.B., Pittet, V., Raschle, N., Rentsch, R., Restellini, S., Richterich, J.P., Rihs, S., Ritz, M.A., Roduit, J., Rogler, D., Rogler, G., Rossel, J.B., Sagmeister, M., Saner, G., Sauter, B., Sawatzki, M., Schäppi, M., Scharl, M., Schelling, M., Schibli, S., Schlauri, H., Uebelhart, S.S., Schnegg, J.F., Schoepfer, A., Seibold, F., Seirafi, M., Semadeni, G.M., Semela, D., Senning, A., Sidler, M., Sokollik, C., Spalinger, J., Spangenberger, H., Stadler, P., Steuerwald, M., Straumann, A., Straumann-Funk, B., Sulz, M., Thorens, J., Tiedemann, S., Tutuian, R., Vavricka, S., Viani, F., Vögtlin, J., Von Känel, R., Vonlaufen, A., Vouillamoz, D., Vulliamy, R., Wermuth, J., Werner, H., Wiesel, P., Wiest, R., Wylie, T., Zeitz, J., Zimmermann, D., University of Zurich, and Misselwitz, Benjamin

Subjects
0301 basic medicine, Crohn’s disease, Abdominal pain, medicine.medical_specialty, 610 Medicine & health, Disease, Polymorphism, Single Nucleotide, Inflammatory bowel disease, Gastroenterology, Single-nucleotide polymorphisms, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Abdominal Pain/genetics, Colitis, Ulcerative/complications, Colitis, Ulcerative/genetics, Humans, Inflammatory Bowel Diseases/complications, Inflammatory Bowel Diseases/genetics, Irritable Bowel Syndrome/complications, Irritable Bowel Syndrome/genetics, Nucleotides, Irritable bowel syndrome, Ulcerative colitis, Internal medicine, medicine, 2715 Gastroenterology, lcsh:RC799-869, 10217 Clinic for Visceral and Transplantation Surgery, Crohn's disease, business.industry, General Medicine, Hepatology, Inflammatory Bowel Diseases, medicine.disease, 10219 Clinic for Gastroenterology and Hepatology, 030104 developmental biology, 10036 Medical Clinic, Colitis, Ulcerative, 030211 gastroenterology & hepatology, lcsh:Diseases of the digestive system. Gastroenterology, medicine.symptom, 610 Medizin und Gesundheit, business, Research Article, Cohort study
Abstract

Background Abdominal pain is a frequent symptom in patients with inflammatory bowel disease (IBD) including Crohn’s disease (CD) and ulcerative colitis (UC). Pain can result from ongoing inflammation or functional disorders imitating irritable bowel syndrome (IBS). Several single-nucleotide polymorphisms (SNPs) have been associated with IBS. However, the impact of IBS genetics on the clinical course of IBD, especially pain levels of patients remains unclear. Methods Data of 857 UC and 1206 CD patients from the Swiss IBD Cohort Study were analysed. We tested the association of the maximum of the abdominal pain item of disease activity indices in UC and CD over the study period with 16 IBS-associated SNPs, using multivariate ANOVA models. Results In UC patients, the SNPs rs1042713 (located on the ADRB2 gene) and rs4663866 (close to the HES6 gene) were associated with higher abdominal pain levels (P = 0.044; P = 0.037, respectively). Abdominal pain was not associated with any markers of patient management in a model adjusted for confounders. In CD patients, higher levels of abdominal pain correlated with the number of physician contacts (P, BMC Gastroenterology, 21 (1), ISSN:1471-230X

Published
2021
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12. Incomplete Anterior Spinal Artery Syndrome Responsive to Intrathecal Baclofen.

Author

Waack A, Fliegner M, Menkes DL, and Staudt MD

Abstract

Anterior cord syndrome (ACS) occurs as a result of ischemia in the territory of the anterior spinal artery (ASA). Although spinal cord strokes are rare, the ASA is the most commonly affected vessel in the spinal cord. The typical presentation of an ASA stroke is paraparesis or paraplegia, bilateral loss of pain and temperature sensation, and fecal or urinary incontinence; the underlying neural structures responsible for these symptoms include the corticospinal tracts and anterior horns, anterolateral spinothalamic tracts, and lateral horns, respectively. ACS is a feared complication of aortic procedures and has been well-documented to occur during or after endovascular abdominal aortic aneurysm revascularization (EVAR). We report a case of incomplete or partial ACS presenting with delayed-onset spasticity and instability several months following EVAR, who was subsequently treated with intrathecal baclofen. We hypothesize that this patient's ischemia selectively damaged descending white matter tracts responsible for modulating the stretch receptor reflex, including damage to the corticospinal tract, which likely also impaired positional stability., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Waack et al.)

Published
2023
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13. Area Deprivation and Medicare Spending for Coronary Artery Bypass Grafting: Insights From Michigan.

Author

Fliegner M, Yaser JM, Stewart J, Nathan H, Likosky DS, Theurer PF, Clark MJ, Prager RL, and Thompson MP

Subjects
Aged, Coronary Artery Bypass adverse effects, Hospitalization, Humans, Michigan, United States, Fee-for-Service Plans, Medicare
Abstract

Background: Prior work has established that high socioeconomic deprivation is associated with worse short- and long-term outcomes for patients undergoing coronary artery bypass grafting (CABG). The relationship between socioeconomic status and 90-day episode spending is poorly understood. In this observational cohort analysis, we evaluated whether socioeconomically disadvantaged patients were associated with higher expenditures during 90-day episodes of care after isolated CABG., Methods: We linked clinical registry data from 8728 isolated CABG procedures from January 1, 2012, to December 31, 2018, to Medicare fee-for-service claims data. Our primary exposure variable was patients in the top decile of the Area Deprivation Index. Linear regression was used to compare risk-adjusted, price-standardized 90-day episode spending for deprived against nondeprived patients as well as component spending categories: index hospitalization, professional services, post acute care, and readmissions., Results: A total of 872 patients were categorized as being in the top decile. Mean 90-day episode spending for the 8728 patients in the sample was $55 258 (SD, $26 252). Socioeconomically deprived patients had higher overall 90-day spending compared with nondeprived patients ($61 579 vs $54 557; difference, $3003; P = .001). Spending was higher in socioeconomically deprived patients for index hospitalizations (difference, $1284; P = .005), professional services (difference, $379; P = .002), and readmissions (difference, $1188; P = .008). Inpatient rehabilitation was the only significant difference in post-acute care spending (difference, $469; P = .011)., Conclusions: Medicare spending was higher for socioeconomically deprived CABG in Michigan, indicating systemic disparities over and above patient demographic factors., (Copyright © 2022 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Published
2022
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14. Sexual Function and Socio-Sexual Difficulties in Women with Polycystic Ovary Syndrome (PCOS).

Author

Fliegner M, Richter-Appelt H, Krupp K, and Brunner F

Abstract

Introduction PCOS is the most common endocrine syndrome in women of the reproductive age that has manifold effects on the life of affected women. Little scientific attention has been devoted to these women's sexual lives. Aim To investigate sexual quality of life in women with PCOS. Methods The sample size was n = 44. Measures employed were: An extended list of sexual dysfunctions and perceived distress based on DSM-IV-TR, Female Sexual Function Index (FSFI), German Questionnaire on Feelings of Inadequacy in Social and Sexual Situations (FUSS), Rosenberg Self-Esteem Scale (RSE), Brief Symptom Inventory (BSI) subscale depression. The relationships of these components were examined including further variables (body mass index, degree of hirsutism using the Ferriman-Gallwey Score, wish for a child). An open question about what participants see as the source of their sexual problems was presented. Results Only moderate impairment in sexual function was detected, but feelings of inadequacy in social and sexual situations were markedly elevated and positively correlated with the degree of hirsutism. Depression showed to be a major problem. Conclusion Patients with PCOS should be screened for socio-sexual difficulties and emotional problems. Specialized psychological and sexological counselling can complement patient care.

Published
2019
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