Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Tomas Freiberger"'
Autor:
Adam Markocsy, MD, Katarina Hrubiskova, MD, Martin Hrubisko, MD, PhD, Tomas Freiberger, MD, PhD, Hana Grombirikova, MSc, Lenka Dolesova, MSc, PhD, Ludmila Slivka Vavrova, MSc, PhD, Regina Lohajova Behulova, MSc, PhD, Martina Ondrusova, MSc, PhD, MPH, Peter Banovcin, MD, PhD, Karolina Vorcakova, MD, PhD, Milos Jesenak, MD, MSc, PhD, MBA, MHA, FAAAAI
Publikováno v:
World Allergy Organization Journal, Vol 17, Iss 3, Pp 100885- (2024)
Background: Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterised by acute episodes of non-pruritic skin and submucosal swelling caused by increase in vascular permeability. Objective: Here we present the first comple
Externí odkaz:
https://doaj.org/article/d13cecf11d30490faf8a2fcf30cc907f
Autor:
Juan Ambrosioni, Marta Hernández-Meneses, Emanuele Durante-Mangoni, Pierre Tattevin, Lars Olaison, Tomas Freiberger, John Hurley, Margaret M. Hannan, Vivian Chu, Bruno Hoen, Asunción Moreno, Guillermo Cuervo, Jaume Llopis, José M. Miró, International Collaboration for Endocarditis (ICE) Investigators
Publikováno v:
Infectious Diseases and Therapy, Vol 12, Iss 12, Pp 2819-2821 (2023)
Externí odkaz:
https://doaj.org/article/a4e29b5dfbf8482fa20ae481c2d624af
Autor:
Juan Ambrosioni, Marta Hernández-Meneses, Emanuele Durante-Mangoni, Pierre Tattevin, Lars Olaison, Tomas Freiberger, John Hurley, Margaret M. Hannan, Vivian Chu, Bruno Hoen, Asunción Moreno, Guillermo Cuervo, Jaume Llopis, José M. Miró, International Collaboration for Endocarditis (ICE) Investigators
Publikováno v:
Infectious Diseases and Therapy, Vol 12, Iss 4, Pp 1083-1101 (2023)
Abstract Introduction Infective endocarditis (IE) has undergone important changes in its epidemiology worldwide. Methods The study aimed to compare IE epidemiological features and outcomes according to predefined European regions and between two diff
Externí odkaz:
https://doaj.org/article/5a704fad381b4852bd76f670077cabdc
Autor:
Jiri Gurka, Lenka Piherova, Filip Majer, Anna Chaloupka, Daniela Zakova, Ondrej Pelak, Alice Krebsova, Petr Peichl, Jan Krejci, Tomas Freiberger, Vojtech Melenovsky, Josef Kautzner, Tomas Kalina, Jakub Sikora, Milos Kubanek
Publikováno v:
ESC Heart Failure, Vol 7, Iss 5, Pp 2534-2543 (2020)
Abstract Aims Danon disease (DD) is a rare X‐linked disorder caused by mutations in the lysosomal‐associated membrane protein type 2 gene (LAMP2). DD is difficult to distinguish from other causes of dilated or hypertrophic cardiomyopathy (HCM) in
Externí odkaz:
https://doaj.org/article/f82c5a15de5141a49aaf81de1fa209bd
Autor:
Dalibor Mlejnek, Jan Krejci, Petr Hude, Eva Ozabalova, Vita Zampachova, Radka Stepanova, Iva Svobodová, Tomas Freiberger, Eva Nemcova, Lenka Spinarova
Publikováno v:
Archives of Medical Science, Vol 14, Iss 6, Pp 1245-1253 (2018)
Externí odkaz:
https://doaj.org/article/bc5b607960e541c48d07676e3be23ff5
Autor:
Michal Vrablik, Lukas Tichý, Tomas Freiberger, Vladimir Blaha, Martin Satny, Jaroslav A. Hubacek
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Familial hypercholesterolemia (FH) is one of the most common monogenic diseases, leading to an increased risk of premature atherosclerosis and its cardiovascular complications due to its effect on plasma cholesterol levels. Variants of three genes (L
Externí odkaz:
https://doaj.org/article/c2464265792c48d195c020c78ae912e7
Autor:
Kristyna Polaskova, Tomas Merta, Alexandra Martincekova, Danica Zapletalova, Michal Kyr, Pavel Mazanek, Zdenka Krenova, Peter Mudry, Marta Jezova, Jiri Tuma, Jarmila Skotakova, Ivana Cervinkova, Dalibor Valik, Lenka Zdrazilova-Dubska, Hana Noskova, Karol Pal, Ondrej Slaby, Pavel Fabian, Sarka Kozakova, Jakub Neradil, Renata Veselska, Veronika Kanderova, Ondrej Hrusak, Tomas Freiberger, Giannoula Lakka Klement, Jaroslav Sterba
Publikováno v:
Frontiers in Oncology, Vol 9 (2020)
In order to identify reasons for treatment failures when using targeted therapies, we have analyzed the comprehensive molecular profiles of three relapsed, poor-prognosis Burkitt lymphoma cases. All three cases had resembling clinical presentation an
Externí odkaz:
https://doaj.org/article/5c281799cb3e41e29ab698bc35a5380e
Autor:
Miroslav Prucha, Hana Grombirikova, Pavel Zdrahal, Marketa Bloomfield, Zuzana Parackova, Tomas Freiberger
Publikováno v:
Case Reports in Immunology, Vol 2020 (2020)
We present a case of a 42-year-old woman with Mendelian susceptibility to mycobacterial disease. The disease was diagnosed at an adult age with relatively typical clinical manifestations; the skeleton, joints, and soft tissues were affected by nontub
Externí odkaz:
https://doaj.org/article/f710c042f8024039b542f0971774fc71
Autor:
Renata Formankova, Veronika Kanderova, Marketa Rackova, Michael Svaton, Tomas Brdicka, Petr Riha, Petra Keslova, Ester Mejstrikova, Marketa Zaliova, Tomas Freiberger, Hana Grombirikova, Zuzana Zemanova, Marcela Vlkova, Filip Fencl, Ivana Copova, Jiri Bronsky, Petr Jabandziev, Petr Sedlacek, Jana Soukalova, Ondrej Zapletal, Jan Stary, Jan Trka, Tomas Kalina, Karolina Skvarova Kramarzova, Eva Hlavackova, Jiri Litzman, Eva Fronkova
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Mutations in the Sterile alpha motif domain containing 9 (SAMD9) gene have been described in patients with severe multisystem disorder, MIRAGE syndrome, but also in patients with bone marrow (BM) failure in the absence of other systemic symptoms. The
Externí odkaz:
https://doaj.org/article/bd4b5e4e6b0447a18fa5370f40186de9
Autor:
Iva Kotaskova, Petr Nemec, Martina Vanerkova, Barbora Malisova, Renata Tejkalova, Marek Orban, Vita Zampachova, Tomas Freiberger
Publikováno v:
BMC Infectious Diseases, Vol 17, Iss 1, Pp 1-7 (2017)
Abstract Background The presence of more than one bacterial agent is relatively rare in infective endocarditis, although more common in prosthetic cases. Molecular diagnosis from a removed heart tissue is considered a quick and effective way to diagn
Externí odkaz:
https://doaj.org/article/9b54adddf28449fa9bbf6b64fe1a8757