Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase

Autor: Stéphanie Bibert, Mathieu Quinodoz, Sylvain Perriot, Fanny S. Krebs, Maxime Jan, Rita C. Malta, Emilie Collinet, Mathieu Canales, Amandine Mathias, Nicole Faignart, Eliane Roulet-Perez, Pascal Meylan, René Brouillet, Onya Opota, Leyder Lozano-Calderon, Florence Fellmann, Nicolas Guex, Vincent Zoete, Sandra Asner, Carlo Rivolta, Renaud Du Pasquier, Pierre-Yves Bochud

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)

Abstract Encephalitis is a rare and potentially fatal manifestation of herpes simplex type 1 infection. Following genome-wide genetic analyses, we identified a previously uncharacterized and very rare heterozygous variant in the E3 ubiquitin ligase W

Externí odkaz: https://doaj.org/article/d87fb10f72004b578992242a02fb6927

Frequency and impact on renal transplant outcomes of urinary tract infections due to extended-spectrum beta-lactamase-producing Escherichia coli and Klebsiella species

Autor: Jakob E. Brune, Michael Dickenmann, Daniel Sidler, Laura N. Walti, Déla Golshayan, Oriol Manuel, Fadi Haidar, Dionysios Neofytos, Aurelia Schnyder, Katia Boggian, Thomas F. Mueller, Thomas Schachtner, Nina Khanna, Stefan Schaub, Caroline Wehmeier, the Swiss Transplant Cohort Study, Patrizia Amico, John-David Aubert, Adrian Bachofner, Vanessa Banz, Sonja Beckmann, Guido Beldi, Christoph Berger, Ekaterine Berishvili, Annalisa Berzigotti, Pierre-Yves Bochud, Sanda Branca, Heiner Bucher, Anne Cairoli, Emmanuelle Catana, Yves Chalandon, Sabina De Geest, Sophie De Seigneux, Joëlle Lynn Dreifuss, Michel Duchosal, Thomas Fehr, Sylvie Ferrari-Lacraz, Jaromil Frossard, Christian Garzoni, Nicolas Goossens, Jörg Halter, Dominik Heim, Christoph Hess, Sven Hillinger, Hans Hirsch, Patricia Hirt, Linard Hoessly, Günther Hofbauer, Uyen Huynh-Do, Franz Immer, Michael Koller, Andreas Kremer, Christian Kuhn, Bettina Laesser, Frédéric Lamoth, Roger Lehmann, Alexander Leichtle, Hans-Peter Marti, Michele Martinelli, Valérie McLin, Katell Mellac, Aurélia Merçay, Karin Mettler, Nicolas Müller, Ulrike Müller-Arndt, Beat Müllhaupt, Mirjam Nägeli, Graziano Oldani, Manuel Pascual, Jakob Passweg, Rosemarie Pazeller, Klara Posfay-Barbe, David Reineke, Juliane Rick, Anne Rosselet, Simona Rossi, Rössler, Silvia Rothlin, Frank Ruschitzka, Alexandra Scherrer, Dominik Schneidawind, Macé Schuurmans, Simon Schwab, Thierry Sengstag, Federico Simonetta, Jürg Steiger, Guido Stirniman, Ueli Stürzinger, Christian Van Delden, Jean-Pierre Venetz, Jean Villard, Julien Vionnet, Madeleine Wick, Markus Wilhlem, Patrick Yerly

Publikováno v: Frontiers in Medicine, Vol 11 (2024)

BackgroundEnterobacterales are often responsible for urinary tract infection (UTI) in kidney transplant recipients. Among these, Escherichia coli or Klebsiella species producing extended-spectrum beta-lactamase (ESBL) are emerging. However, there are

Externí odkaz: https://doaj.org/article/8a2807b2ba0b4fa9a10786acd1fc2ce2

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

Autor: Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Çelik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane Del Valle, Nicole Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle, Federico Martinón-Torres, Andrea Ganna, Konrad J Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Jm Eveleigh, Vincenzo Forgetta, David Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour S Almutairi, Yaseen M Arabi, Saleh A Alqahtani, Fawz S Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal A Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam Butterworth, COVID-19 Host Genetics Initiative, DeCOI Host Genetics Group, GEN-COVID Multicenter Study (Italy), Mount Sinai Clinical Intelligence Center, GEN-COVID consortium (Spain), GenOMICC Consortium, Japan COVID-19 Task Force, Regeneron Genetics Center, Daniel H Geschwind, Stephanie Arteaga, Alexis Stephens, Manish J Butte, Paul C Boutros, Takafumi N Yamaguchi, Shu Tao, Stefan Eng, Timothy Sanders, Paul J Tung, Michael E Broudy, Yu Pan, Alfredo Gonzalez, Nikhil Chavan, Ruth Johnson, Bogdan Pasaniuc, Brian Yaspan, Sandra Smieszek, Carlo Rivolta, Stephanie Bibert, Pierre-Yves Bochud, Maciej Dabrowski, Pawel Zawadzki, Mateusz Sypniewski, Elżbieta Kaja, Pajaree Chariyavilaskul, Voraphoj Nilaratanakul, Nattiya Hirankarn, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Katsushi Tokunaga, Masaya Sugiyama, Yosuke Kawai, Takanori Hasegawa, Tatsuhiko Naito, Ho Namkoong, Ryuya Edahiro, Akinori Kimura, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada, Seiya Imoto, Satoru Miyano, Serghei Mangul, Malak S Abedalthagafi, Hugo Zeberg, Joseph J Grzymski, Nicole L Washington, Stephan Ossowski, Kerstin U Ludwig, Eva C Schulte, Olaf Riess, Marcin Moniuszko, Miroslaw Kwasniewski, Hamdi Mbarek, Said I Ismail, Anurag Verma, David B Goldstein, Krzysztof Kiryluk, Alessandra Renieri, Manuel A R Ferreira, J Brent Richards

Publikováno v: PLoS Genetics, Vol 18, Iss 11, p e1010367 (2022)

Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the larg

Externí odkaz: https://doaj.org/article/5f79e367675d482a9faf89902afbc030

Invasive Hormographiella aspergillata infection in patients with acute myeloid leukemia: Report of two cases successfully treated and review of the literature

Autor: Jonathan Tschopp, Jean Yannis Perentes, Catherine Beigelman-Aubry, Sabina Berezowska, Alban Lovis, Olivier Spertini, Pierre-Yves Bochud, Frederic Lamoth

Publikováno v: Medical Mycology Case Reports, Vol 32, Iss , Pp 68-72 (2021)

Hormographiella aspergillata is a rare cause of invasive mold infection, mostly described in patients with hematological malignancies. We describe two cases of invasive H. aspergillata infections in patients with acute myeloid leukemia, successfully

Externí odkaz: https://doaj.org/article/b970946f130b446392553edac2b16419

Cohort profile: The Swiss Transplant Cohort Study (STCS): A nationwide longitudinal cohort study of all solid organ recipients in Switzerland

Autor: Thomas Fehr, Pierre-Yves Bochud, Oriol Manuel, Roger Lehmann, Christoph Berger, Klara Posfay-Barbe, Frank Ruschitzka, Manuel Pascual, Michael Koller, Heiner Bucher, Thomas Schachtner, Annalisa Berzigotti, Christoph Hess, Sylvie Ferrari-Lacraz, Dominik Heim, Sabina de Geest, Jürg Steiger, Simona Rossi, Christian Garzoni, Thierry Carrel, Sabina De Geest, Christian van Delden, Beat Mullhaupt, Nicolas Goossens, Guido Beldi, Uyen Huynh-Do, Karine Hadaya, Sophie De Seigneux, Susanne Stampf, Nicolas J Mueller, Vanessa Banz, Isabelle Binet, Alexander Leichtle, Stefan Schaub, Patrizia Amico, Andres Axel, John-David Aubert, Beckmann Sonja, Ekaterine Berishvili, Sanda Branca, Emmanuelle Catana, Olivier De Rougemont, Michael Dickenmann, Joëlle Lynn Dreifuss, Michel Duchosal, Nicola Franscini, Paola Gasche Soccal, Christophe Gaudet, Déla Golshayan, Jörg Halter, Sven Hillinger, Hans Hirsch, Patricia Hirt, Günther Hofbauer, Franz Immer, Mirjam Laager, Bettina Laesser, Christian Lovis, Hans-Peter Marti, Pierre Yves Martin, Michele Martinelli, Valérie McLin, Katell Mellac, Aurélia Merçay, Karin Mettler, Nicolas Mueller, Antonia Müller, Ulrike Müller-Arndt, Mirjam Nägeli, Graziano Oldani, Juliane Rick, Anne Rosselet, Silvia Rothlin, Urs Schanz, Aurelia Schnyder, Macé Schuurmans, Thierry Sengstag, Federico Simonetta, Guido Stirniman, Ueli Stürzinger, Christian Van Delden, Jean-Pierre Venetz, Jean Villard, Julien Vionnet, Madeleine Wick, Markus Wilhlem, Patrick Yerly

Publikováno v: BMJ Open, Vol 11, Iss 12 (2021)

Purpose The Swiss Transplant Cohort Study (STCS) is a prospective multicentre cohort study which started to actively enrol study participants in May 2008. It takes advantage of combining data from all transplant programmes in one unique system to per

Externí odkaz: https://doaj.org/article/8068d54c90ac4e529fcf8cdc6c453b03