Mycobacterium tuberculosis complex sample processing by mechanical lysis, an essential step for reliable whole genome sequencing

Autor: Hermans, Noud, de Zwaan, Rina, Mulder, Arnout, van den Dool, Joyce, van Soolingen, Dick, Kremer, Kristin, Anthony, Richard

Publikováno v: In Journal of Microbiological Methods December 2024 227

Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa

Autor: Luisa Sophie Rajcsanyi, Yiran Zheng, Beate Herpertz-Dahlmann, Jochen Seitz, Martina de Zwaan, Wolfgang Herzog, Stefan Ehrlich, Stephan Zipfel, Katrin Giel, Karin Egberts, Roland Burghardt, Manuel Föcker, Jochen Antel, Pamela Fischer-Posovszky, Johannes Hebebrand, Anke Hinney

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)

Abstract Mutations leading to a reduced or loss of function in genes of the leptin-melanocortin system confer a risk for monogenic forms of obesity. Yet, gain of function variants in the melanocortin-4-receptor (MC4R) gene predispose to a lower BMI.

Externí odkaz: https://doaj.org/article/72d9bff16c3a4d4c9ec66cca2742c072

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Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design

Autor: Akkaya, Federica, Babka, Christine, Bannert, Lisa, Bärsch-Michelmann, Anja, Böhm, Leonie, Brinkmann, Folke, Bullinger, Monika, Cario, Holger, de Greck, Moritz, Debatin, Klaus-Michael, Dillmann-Jehn, Katrin, Eymann, Jutta, Frisch, Julia, Glode, Anja, Gödecke, Vega, Grasemann, Corinna, Grauer, Eva, Haas, Astrid, Haisch, Lea, Isabell, Heinrich, Held, Melissa, Hennermann, Julia, Herpertz, Stephan, Herrmann-Werner, Anne, Hett, Julian, Heuschmann, Peter, Hilbig, Bettina, Holthöfer, Laura, Imhof, Christiane, Junne, Florian, Kassubek, Jan, Koschitzki, Kevin-Thomas, Krassort, Heike, Kropff, Birgit, Kuhn, Julia, Latzko, Philipp, Loew, Thomas, Ludolph, Albert C., Meyer, Torsten, Meyer dos Santos, Isabell, Mohnike, Klaus, Monninger, Martina, Mücke, Martin, Müller, Susanne, Musacchio, Thomas, Nießen, Margret, Nöhre, Mariel, Ott, Stephan, Petermann-Meyer, Andrea, Pfeifer-Duck, Christina, Piduhn, Lea-Sophie, Rampp, Carina, Rieß, Olaf, Schaubert, Kristina, Schmidt, Annika, Schneider, Simone, Schoels, Ludger, Schwalba, Martina, Selig, Udo, Sroka, Alexandra, Steinbüchel, Toni, Stösser, Sebastian, Suchant, Steffi, Ungethüm, Kathrin, Vogel, Matthias, Volk, Daniela, Vollmuth, Christoph, Volnov, Solange, Wagner, Thomas O.F., Walter, Sabrina, Warrings, Bodo, Zajt, Kamil, Zenker, Karola, Zhang, David, Zipfel, Stephan, Hebestreit, Helge, Lapstich, Anne-Marie, Brandstetter, Lilly, Krauth, Christian, Deckert, Jürgen, Haas, Kirsten, Pfister, Lisa, Witt, Stefanie, Schippers, Christopher, Dieris-Hirche, Jan, Maisch, Tim, Tüscher, Oliver, Bârlescu, Lavinia Aurelia, Berger, Alexandra, Berneburg, Mark, Britz, Vanessa, Deibele, Anna, Graeßner, Holm, Gündel, Harald, Heuft, Gereon, Lücke, Thomas, Mundlos, Christine, Quitmann, Julia Hannah, Rutsch, Frank, Schubert, Katharina, Schulz, Jörg B., Schweiger, Susann, Zeidler, Cornelia, Zeltner, Lena Margarete, de Zwaan, Martina, Bârlescu, Lavinia, Quitmann, Julia, Schulz, Jörg Bernhard, Zeltner, Lena

Publikováno v: In eClinicalMedicine November 2023 65

Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort designResearch in context

Autor: Helge Hebestreit, Anne-Marie Lapstich, Lilly Brandstetter, Christian Krauth, Jürgen Deckert, Kirsten Haas, Lisa Pfister, Stefanie Witt, Christopher Schippers, Jan Dieris-Hirche, Tim Maisch, Oliver Tüscher, Lavinia Bârlescu, Alexandra Berger, Mark Berneburg, Vanessa Britz, Anna Deibele, Holm Graeßner, Harald Gündel, Gereon Heuft, Thomas Lücke, Christine Mundlos, Julia Quitmann, Frank Rutsch, Katharina Schubert, Jörg Bernhard Schulz, Susann Schweiger, Cornelia Zeidler, Lena Zeltner, Martina de Zwaan, Federica Akkaya, Christine Babka, Lisa Bannert, Anja Bärsch-Michelmann, Leonie Böhm, Folke Brinkmann, Monika Bullinger, Holger Cario, Moritz de Greck, Klaus-Michael Debatin, Katrin Dillmann-Jehn, Jutta Eymann, Julia Frisch, Anja Glode, Vega Gödecke, Corinna Grasemann, Eva Grauer, Astrid Haas, Lea Haisch, Isabell, Heinrich, Melissa Held, Julia Hennermann, Stephan Herpertz, Anne Herrmann-Werner, Julian Hett, Peter Heuschmann, Bettina Hilbig, Laura Holthöfer, Christiane Imhof, Florian Junne, Jan Kassubek, Kevin-Thomas Koschitzki, Heike Krassort, Birgit Kropff, Julia Kuhn, Philipp Latzko, Thomas Loew, Albert C. Ludolph, Torsten Meyer, Isabell Meyer dos Santos, Klaus Mohnike, Martina Monninger, Martin Mücke, Susanne Müller, Thomas Musacchio, Margret Nießen, Mariel Nöhre, Stephan Ott, Andrea Petermann-Meyer, Christina Pfeifer-Duck, Lea-Sophie Piduhn, Carina Rampp, Olaf Rieß, Kristina Schaubert, Annika Schmidt, Simone Schneider, Ludger Schoels, Martina Schwalba, Udo Selig, Alexandra Sroka, Toni Steinbüchel, Sebastian Stösser, Steffi Suchant, Kathrin Ungethüm, Matthias Vogel, Daniela Volk, Christoph Vollmuth, Solange Volnov, Thomas O.F. Wagner, Sabrina Walter, Bodo Warrings, Kamil Zajt, Karola Zenker, David Zhang, Stephan Zipfel, Lavinia Aurelia Bârlescu, Julia Hannah Quitmann, Jörg B. Schulz, Lena Margarete Zeltner

Publikováno v: EClinicalMedicine, Vol 65, Iss , Pp 102260- (2023)

Summary: Background: People with complex symptomatology but unclear diagnosis presenting to a centre for rare diseases (CRD) may present with mental (co-)morbidity. We hypothesised that combining an expert in somatic medicine with a mental health spe

Externí odkaz: https://doaj.org/article/7104fbd316dd40be90da99c4bb8c26c0