Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Sibylle Tschumi"'
Autor:
Matthias Liebrand, Michael Rebsamen, Akari Nakamura-Utsunomiya, Luisa von den Driesch, Patrick Köck, Julien Caccia, Christoph Hamann, Roland Wiest, Michael Kaess, Sebastian Walther, Sibylle Tschumi, Takeshi Y. Hiyama, Jochen Kindler
Publikováno v:
Frontiers in Psychiatry, Vol 14 (2023)
This is the first description of a patient in which adipsic hypernatremia, a rare autoimmune encephalitis, presented in combination with complex psychiatric symptomatology, including psychosis and catatonia. Adipsic hypernatremia is characterized by
Externí odkaz:
https://doaj.org/article/8675f0532e0147aeb625caaabe36363b
Autor:
Mara Grassi, Bernard Laubscher, Amit V. Pandey, Sibylle Tschumi, Franziska Graber, André Schaller, Marco Janner, Daniel Aeberli, Ekkehard Hewer, Jean-Marc Nuoffer, Matthias Gautschi
Publikováno v:
Molecular Syndromology. :1-15
Introduction: The p.(Arg85Trp) variant-specific phenotype of hepatocyte nuclear factor 4 alpha shows a complex clinical picture affecting three different organ systems and their corresponding metabolisms. Little is known about the molecular mechanism
Publikováno v:
Zeitschrift für Geburtshilfe und Neonatologie. 226:98-103
Introduction This study’s objective was to identify prenatal criteria helping differential diagnosis of bilateral enlarged, hyperechogenic kidneys, especially looking at development of renal volume and amniotic fluid volume with increasing gestatio
Autor:
Boris Utsch, Jörg Dötsch, Sibylle Tschumi, Mathias Gugger, K Dittrich, Michael Uder, Kerstin Amann, Christian Plank, Wolfgang Rascher, Matthias Galiano, Axel Schmid, Hanno Hoppe
Publikováno v:
Clinical Kidney Journal
Autor:
Erika Tarasco, Ralph Wendt, Anne Sophie von Krogh, Sibylle Tschumi, James N. George, Masanori Matsumoto, Paul Knöbl, Reinhard Schneppenheim, Bernhard Lämmle, other members of Hereditary TTP Registry Steering Committee, Johanna A. Kremer Hovinga Strebel
Publikováno v:
Blood. 138:770-770
Introduction Hereditary thrombotic thrombocytopenic purpura (hTTP) is an ultra-rare thrombotic microangiopathy caused by autosomal recessively inherited severe ADAMTS13 deficiency. In respect to organ damage, we recently reported a heterogeneous clin
Autor:
Sibylle Tschumi, Claudia E. Kuehni, Franz Immer, Marcus Weitz, Hassib Chehade, Maria Schmidt, Paloma Maria Parvex, Onur Sazpinar, Elisabeth Maurer, Guido F. Laube, Thomas J. Neuhaus
Publikováno v:
Transplant International, Vol. 30, No 1 (2017) pp. 68-75
Children often merit priority in access to deceased donor kidneys by organ-sharing organizations. We report the impact of the new Swiss Organ Allocation System (SOAS) introduced in 2007, offering all kidney allografts from deceased donors
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0ff403a8263de3ae476707fca8d9508
https://archive-ouverte.unige.ch/unige:107779
https://archive-ouverte.unige.ch/unige:107779
Autor:
Cengiz Candan, Alev Yilmaz, Francesca Lugani, Kevin Kunzmann, Anna Niemirska, Franz Schaefer, Anette Melk, Jérôme Harambat, Sara Testa, Ali Anarat, Francesca Mencarelli, Betül Sözeri, Aysel Kiyak, Lucie Bessenay, Aysun Karabay Bayazit, Sibylle Tschumi, Harika Alpay, Hakan Erdogan, Amira Peco-Antic, Anke Doyon, Uwe Querfeld, Osman Dönmez, Klaus Arbeiter, Augustina Jankauskiene, Daniela Thurn-Valsassina, Ali Duzova, Dorota Drozdz, Alejandra Rosales, Nur Canpolat, Karolis Azukaitis
PubMedID: 28729033 Recent studies in adult chronic kidney disease (CKD) suggest that metabolic acidosis is associated with faster decline in estimated glomerular filtration rate (eGFR). Alkali therapies improve the course of kidney disease. Here we i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3fec3e4d131a81f848c9d53cc65fcae
https://ruj.uj.edu.pl/xmlui/handle/item/141089
https://ruj.uj.edu.pl/xmlui/handle/item/141089
Autor:
K. van Hoeck, Khadizha Emirova, Karlijn J. van Stralen, J.M. des Grottes, G. von Gersdorff, Kitty J. Jager, C. Afonso, O. Berbeca, Vidar O. Edvardsson, Diamant Shtiza, D. Roussinov, L. Backmän, Jadranka Buturović-Ponikvar, Polina Miteva, Stefano Picca, Tamás Szabó, Anastasios Kapogiannis, Paloma Maria Parvex, Staffan Schön, B. Rippe, Ludmila Podracka, Conceição Mota, Aleksandra Zurowska, Ilona Zagozdzon, Sibylle Tschumi, S. Gatcan, Mirjana Kostic, Gordana Milosevski-Lomic, Enrico Vidal, Natalia Tomilina, N. Abazi, Valerie Said-Conti, Guido F. Laube, Ana Sánchez-Moreno, Runolfur Palsson, Marjolein Bonthuis, A. Cassula, Dusan Paripovic, Brigitte Adams, A. Sukalo, Anna Bjerre, A. Alonso Melgar, S. Puric, Jérôme Harambat, D. Pokrajac, Antal Szabó, N. Zaikova, Aysun Karabay Bayazit, Frederic Collart, Cécile Couchoud, Aline C. Hemke, Boris Bikbov, B. Höcker, Nina Battelino, Karel Vondrak, S. Rudaitis, D. Batinić, Carmine Pecoraro, F. Braddon, Gabriel Mircescu, M. Lemac, Marie Evans, Brankica Spasojević-Dimitrijeva, N. Ristoka Bojkovska, Sergey Baiko, Torbjørn Leivestad, Silvio Maringhini, C.E. Kuenhi, R. Pruthi, Christoph J. Mache, S. Mannings, Franz Schaefer, Andries J. Hoitsma, Elisabeth Maurer, Tomáš Seeman, Gregor Novljan, Augustina Jankauskiene, Enrico Verrina, Rezan Topaloglu, José Eduardo Esteves Da Silva, Antonella Trivelli, R. Oberbauer, Lars Pape, Nikolaos Afentakis, Bruno Gianoglio, M. Lasalle, K. Krupka, Nicholas C. Chesnaye, Gabriel Kolvek, Jaap W. Groothoff, Christer Holmberg, Nikoleta Printza, James G. Heaf, Eva Kis, S. Pavićević, Patrik Finne, C. Scholz, Maria Stendahl, Divna Kruscic, C.S. Berecki, Manish D. Sinha, Carola Grönhagen-Riska, J. Slavicek, Z.S. Györke, Amira Peco-Antic, Emilija Sahpazova, M. Almeida, Burkhard Tönshoff, Karl G. Prütz, G Reusz, Elena A. Molchanova, D. Ivanov, Maria Herthelius, Reinhard Kramar, Sara Testa, U. Toots, Liliana Garneata
Publikováno v:
American Journal of Kidney Diseases, Vol. 69, No 5 (2017) pp. 617-625
Background: The impact of different dialysis modalities on clinical outcomes has not been explored in young infants with chronic kidney failure. Study Design: Cohort study. Setting & Participants: Data were extracted from the ESPN/ERA-EDTA Registry.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2379f48b750e257a9206322f2fefde9
https://hdl.handle.net/10668/10671
https://hdl.handle.net/10668/10671
Autor:
Sabina Gallati, Barbara Goeggel Simonetti, Susi Strozzi, Johannes R. Lemke, Sibylle Tschumi, Carolina Courage, Claudine Rieubland
Publikováno v:
Epilepsia. 53:2128-2134
Sodium channel gene aberrations are associated with a wide range of seizure disorders, particularly Dravet syndrome. They usually consist of missense or truncating gene mutations or deletions. Duplications involving multiple genes encoding for differ
Autor:
Sibylle Tschumi, Barbara S. Bucher, Lea Dunkelmann, Andrea Duppenthaler, Giacomo D. Simonetti
Publikováno v:
Acta Paediatrica. 101:e479-e481