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    Publication
    100 Years of the Clinic for Otorhinolaryngology and Maxillofacial Surgery at the University Clinical Center of Serbia (1924–2024)
    (2025)
    Čvorović, Ljiljana (16229375800)
    ;
    Ranđelović, Simona (59900060600)
    ;
    Korugić, Aleksa (59469203800)
    ;
    Mladenović, Neda (59900472300)
    ;
    Arsović, Konstantin (58782102600)
    ;
    Arsović, Nenad (17033449500)
    The Clinic for Otorhinolaryngology and Maxillofacial Surgery at the University Clinical Center of Serbia celebrates its 100th anniversary in 2024. Established in 1924, the clinic has significantly contributed to the development of otorhinolaryngology in Serbia, keeping pace with European advancements. Its origins trace back to the early 1870s with Dr. Jovan Jovanović Zmaj, a physician who pioneered laryngoscopy in the country, and to Dr. Vladan Đorđević in 1871. Both were pioneers of laryngoscopy – Dr. Jovanović Zmaj in Novi Sad, and Dr. Đorđević in Belgrade. The clinic initially operated at the General State Hospital in Belgrade, before expanding and relocating multiple times. It has continually grown, introducing cutting-edge treatments and technologies, including endoscopic procedures, pediatric care, and advanced head and neck surgeries. Today, the clinic has 115 beds, six operating rooms, and specialized departments, offering comprehensive care in otorhinolaryngology and maxillofacial surgery. With a strong educational focus, it trains future medical professionals and continues to lead innovations in ENT and maxillofacial surgery. The clinic’s strategic goals include modernizing equipment and expanding capacities, aiming to maintain its position as a leader in the field. © 2025, Serbia Medical Society. All rights reserved.
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    10kin1day: A bottom-up neuroimaging initiative
    (2019)
    Van Den Heuvel, Martijn P. (24333539900)
    ;
    Scholtens, Lianne H. (56348997500)
    ;
    Van Der Burgh, Hannelore K. (57192702037)
    ;
    Agosta, Federica (6701687853)
    ;
    Alloza, Clara (57189662978)
    ;
    Arango, Celso (6508338058)
    ;
    Auyeung, Bonnie (15134853800)
    ;
    Baron-Cohen, Simon (7006016927)
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    Basaia, Silvia (56830447300)
    ;
    Benders, Manon J.N.L. (56030466500)
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    Beyer, Frauke (57192985836)
    ;
    Booij, Linda (9943615100)
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    Braun, Kees P.J. (55598771200)
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    Filho, Geraldo Busatto (57201646058)
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    Cahn, Wiepke (56099614300)
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    Cannon, Dara M. (12789385300)
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    Chaim-Avancini, Tiffany M. (56641654300)
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    Chan, Sandra S.M. (57406077300)
    ;
    Chen, Eric Y.H. (57200371582)
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    Crespo-Facorro, Benedicto (6603814621)
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    Crone, Eveline A. (7004062158)
    ;
    Dannlowski, Udo (13806470600)
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    De Zwarte, Sonja M.C. (57191504132)
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    Dietsche, Bruno (55224682400)
    ;
    Donohoe, Gary (6701858763)
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    Plessis, Stefan Du (58654163200)
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    Durston, Sarah (6603086513)
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    Díaz-Caneja, Covadonga M. (56208998400)
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    Díaz-Zuluaga, Ana M. (57096316500)
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    Emsley, Robin (7006845367)
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    Filippi, Massimo (7202268530)
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    Frodl, Thomas (6701714340)
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    Gorges, Martin (55807948200)
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    Graff, Beata (54883084500)
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    Grotegerd, Dominik (37101507600)
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    Gąsecki, Dariusz (7801379443)
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    Hall, Julie M. (7407377003)
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    Holleran, Laurena (55951809000)
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    Holt, Rosemary (55491150900)
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    Hopman, Helene J. (57207758484)
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    Jansen, Andreas (35229760800)
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    Janssen, Joost (7202776634)
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    Jodzio, Krzysztof (6602417988)
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    Jäncke, Lutz (26643637600)
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    Kaleda, Vasiliy G. (56765570100)
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    Kassubek, Jan (7003511907)
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    Masouleh, Shahrzad Kharabian (57163667100)
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    Kircher, Tilo (55724907000)
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    Koevoets, Martijn G.J.C. (56938949900)
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    Kostic, Vladimir S. (57189017751)
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    Krug, Axel (24166628400)
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    Lawrie, Stephen M. (7006525184)
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    Lebedeva, Irina S. (7006023789)
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    Lee, Edwin H.M. (57200364686)
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    Lett, Tristram A. (42461937900)
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    Lewis, Simon J.G. (7404041158)
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    Liem, Franziskus (55253061300)
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    Lombardo, Michael V. (57211089531)
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    Lopez-Jaramillo, Carlos (36343578600)
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    Margulies, Daniel S. (21834034400)
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    Markett, Sebastian (15840219100)
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    Marques, Paulo (55759915300)
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    Martínez-Zalacaín, Ignacio (55266538700)
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    McDonald, Colm (8749594800)
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    McIntosh, Andrew M. (56208173500)
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    McPhilemy, Genevieve (57194436615)
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    Meinert, Susanne L. (57191442722)
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    Menchón, José M. (6604044797)
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    Montag, Christian (23009620300)
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    Moreira, Pedro S. (56372116900)
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    Morgado, Pedro (14319368300)
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    Mothersill, David O. (55368598300)
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    Mérillat, Susan (36969108900)
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    Müller, Hans-Peter (58603535800)
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    Nabulsi, Leila (57194423190)
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    Najt, Pablo (8406994100)
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    Narkiewicz, Krzysztof (7006238742)
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    Naumczyk, Patrycja (47561954900)
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    Oranje, Bob (6602383202)
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    De la Foz, Victor Ortiz-Garcia (36495425100)
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    Peper, Jiska S. (9232703800)
    ;
    Pineda, Julian A. (57209537150)
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    Rasser, Paul E. (8602146000)
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    Redlich, Ronny (55248386800)
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    Repple, Jonathan (56716521600)
    ;
    Reuter, Martin (58549203700)
    ;
    Rosa, Pedro G.P. (56679323900)
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    Ruigrok, Amber N.V. (37038376900)
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    Sabisz, Agnieszka (36471109900)
    ;
    Schall, Ulrich (57211236659)
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    Seedat, Soraya (7003445887)
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    Serpa, Mauricio H. (57208752985)
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    Skouras, Stavros (55761697000)
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    Soriano-Mas, Carles (6507421752)
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    Sousa, Nuno (7003438440)
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    Szurowska, Edyta (6508350578)
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    Tomyshev, Alexander S. (57190813180)
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    Tordesillas-Gutierrez, Diana (35308347700)
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    Valk, Sofie L. (56478997400)
    ;
    Van Den Berg, Leonard H. (56843401500)
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    Van Erp, Theo G.M. (6604055278)
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    Van Haren, Neeltje E.M. (57202687835)
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    Van Leeuwen, Judith M.C. (57194212020)
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    Villringer, Arno (7007157177)
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    Vinkers, Christiaan H. (6505512420)
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    Vollmar, Christian (6603947481)
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    Waller, Lea (57193790216)
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    Walter, Henrik (7201499004)
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    Whalley, Heather C. (57200399438)
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    Witkowska, Marta (55109248500)
    ;
    Witte, A. Veronica (7006644840)
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    Zanetti, Marcus V. (57219654811)
    ;
    Zhang, Rui (57201329718)
    ;
    De Lange, Siemon C. (56006493400)
    We organized 10Kin1day, a pop-up scientific event with the goal to bring together neuroimaging groups from around the world to jointly analyze 10,000+ existing MRI connectivity datasets during a 3-day workshop. In this report, we describe the motivation and principles of 10Kin1day, together with a public release of 8,000+ MRI connectome maps of the human brain. Ongoing grand-scale projects like the European Human Brain Project (1), the US Brain Initiative (2), the Human Connectome Project (3), the Chinese Brainnetome (4) and exciting world-wide neuroimaging collaborations such as ENIGMA (5) herald the new era of big neuroscience. In conjunction with these major undertakings, there is an emerging trend for bottom-up initiatives, starting with small-scale projects built upon existing collaborations and infrastructures. As described by Mainen et al. (6), these initiatives are centralized around self-organized groups of researchers working on the same challenges and sharing interests and specialized expertise. These projects could scale and open up to a larger audience and other disciplines over time, eventually lining up and merging their findings with other programs to make the bigger picture. © 2019 Frontiers Media S.A.. All rights reserved.
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    Publication
    10kin1day: A bottom-up neuroimaging initiative
    (2019)
    Van Den Heuvel, Martijn P. (24333539900)
    ;
    Scholtens, Lianne H. (56348997500)
    ;
    Van Der Burgh, Hannelore K. (57192702037)
    ;
    Agosta, Federica (6701687853)
    ;
    Alloza, Clara (57189662978)
    ;
    Arango, Celso (6508338058)
    ;
    Auyeung, Bonnie (15134853800)
    ;
    Baron-Cohen, Simon (7006016927)
    ;
    Basaia, Silvia (56830447300)
    ;
    Benders, Manon J.N.L. (56030466500)
    ;
    Beyer, Frauke (57192985836)
    ;
    Booij, Linda (9943615100)
    ;
    Braun, Kees P.J. (55598771200)
    ;
    Filho, Geraldo Busatto (57201646058)
    ;
    Cahn, Wiepke (56099614300)
    ;
    Cannon, Dara M. (12789385300)
    ;
    Chaim-Avancini, Tiffany M. (56641654300)
    ;
    Chan, Sandra S.M. (57406077300)
    ;
    Chen, Eric Y.H. (57200371582)
    ;
    Crespo-Facorro, Benedicto (6603814621)
    ;
    Crone, Eveline A. (7004062158)
    ;
    Dannlowski, Udo (13806470600)
    ;
    De Zwarte, Sonja M.C. (57191504132)
    ;
    Dietsche, Bruno (55224682400)
    ;
    Donohoe, Gary (6701858763)
    ;
    Plessis, Stefan Du (58654163200)
    ;
    Durston, Sarah (6603086513)
    ;
    Díaz-Caneja, Covadonga M. (56208998400)
    ;
    Díaz-Zuluaga, Ana M. (57096316500)
    ;
    Emsley, Robin (7006845367)
    ;
    Filippi, Massimo (7202268530)
    ;
    Frodl, Thomas (6701714340)
    ;
    Gorges, Martin (55807948200)
    ;
    Graff, Beata (54883084500)
    ;
    Grotegerd, Dominik (37101507600)
    ;
    Gąsecki, Dariusz (7801379443)
    ;
    Hall, Julie M. (7407377003)
    ;
    Holleran, Laurena (55951809000)
    ;
    Holt, Rosemary (55491150900)
    ;
    Hopman, Helene J. (57207758484)
    ;
    Jansen, Andreas (35229760800)
    ;
    Janssen, Joost (7202776634)
    ;
    Jodzio, Krzysztof (6602417988)
    ;
    Jäncke, Lutz (26643637600)
    ;
    Kaleda, Vasiliy G. (56765570100)
    ;
    Kassubek, Jan (7003511907)
    ;
    Masouleh, Shahrzad Kharabian (57163667100)
    ;
    Kircher, Tilo (55724907000)
    ;
    Koevoets, Martijn G.J.C. (56938949900)
    ;
    Kostic, Vladimir S. (57189017751)
    ;
    Krug, Axel (24166628400)
    ;
    Lawrie, Stephen M. (7006525184)
    ;
    Lebedeva, Irina S. (7006023789)
    ;
    Lee, Edwin H.M. (57200364686)
    ;
    Lett, Tristram A. (42461937900)
    ;
    Lewis, Simon J.G. (7404041158)
    ;
    Liem, Franziskus (55253061300)
    ;
    Lombardo, Michael V. (57211089531)
    ;
    Lopez-Jaramillo, Carlos (36343578600)
    ;
    Margulies, Daniel S. (21834034400)
    ;
    Markett, Sebastian (15840219100)
    ;
    Marques, Paulo (55759915300)
    ;
    Martínez-Zalacaín, Ignacio (55266538700)
    ;
    McDonald, Colm (8749594800)
    ;
    McIntosh, Andrew M. (56208173500)
    ;
    McPhilemy, Genevieve (57194436615)
    ;
    Meinert, Susanne L. (57191442722)
    ;
    Menchón, José M. (6604044797)
    ;
    Montag, Christian (23009620300)
    ;
    Moreira, Pedro S. (56372116900)
    ;
    Morgado, Pedro (14319368300)
    ;
    Mothersill, David O. (55368598300)
    ;
    Mérillat, Susan (36969108900)
    ;
    Müller, Hans-Peter (58603535800)
    ;
    Nabulsi, Leila (57194423190)
    ;
    Najt, Pablo (8406994100)
    ;
    Narkiewicz, Krzysztof (7006238742)
    ;
    Naumczyk, Patrycja (47561954900)
    ;
    Oranje, Bob (6602383202)
    ;
    De la Foz, Victor Ortiz-Garcia (36495425100)
    ;
    Peper, Jiska S. (9232703800)
    ;
    Pineda, Julian A. (57209537150)
    ;
    Rasser, Paul E. (8602146000)
    ;
    Redlich, Ronny (55248386800)
    ;
    Repple, Jonathan (56716521600)
    ;
    Reuter, Martin (58549203700)
    ;
    Rosa, Pedro G.P. (56679323900)
    ;
    Ruigrok, Amber N.V. (37038376900)
    ;
    Sabisz, Agnieszka (36471109900)
    ;
    Schall, Ulrich (57211236659)
    ;
    Seedat, Soraya (7003445887)
    ;
    Serpa, Mauricio H. (57208752985)
    ;
    Skouras, Stavros (55761697000)
    ;
    Soriano-Mas, Carles (6507421752)
    ;
    Sousa, Nuno (7003438440)
    ;
    Szurowska, Edyta (6508350578)
    ;
    Tomyshev, Alexander S. (57190813180)
    ;
    Tordesillas-Gutierrez, Diana (35308347700)
    ;
    Valk, Sofie L. (56478997400)
    ;
    Van Den Berg, Leonard H. (56843401500)
    ;
    Van Erp, Theo G.M. (6604055278)
    ;
    Van Haren, Neeltje E.M. (57202687835)
    ;
    Van Leeuwen, Judith M.C. (57194212020)
    ;
    Villringer, Arno (7007157177)
    ;
    Vinkers, Christiaan H. (6505512420)
    ;
    Vollmar, Christian (6603947481)
    ;
    Waller, Lea (57193790216)
    ;
    Walter, Henrik (7201499004)
    ;
    Whalley, Heather C. (57200399438)
    ;
    Witkowska, Marta (55109248500)
    ;
    Witte, A. Veronica (7006644840)
    ;
    Zanetti, Marcus V. (57219654811)
    ;
    Zhang, Rui (57201329718)
    ;
    De Lange, Siemon C. (56006493400)
    We organized 10Kin1day, a pop-up scientific event with the goal to bring together neuroimaging groups from around the world to jointly analyze 10,000+ existing MRI connectivity datasets during a 3-day workshop. In this report, we describe the motivation and principles of 10Kin1day, together with a public release of 8,000+ MRI connectome maps of the human brain. Ongoing grand-scale projects like the European Human Brain Project (1), the US Brain Initiative (2), the Human Connectome Project (3), the Chinese Brainnetome (4) and exciting world-wide neuroimaging collaborations such as ENIGMA (5) herald the new era of big neuroscience. In conjunction with these major undertakings, there is an emerging trend for bottom-up initiatives, starting with small-scale projects built upon existing collaborations and infrastructures. As described by Mainen et al. (6), these initiatives are centralized around self-organized groups of researchers working on the same challenges and sharing interests and specialized expertise. These projects could scale and open up to a larger audience and other disciplines over time, eventually lining up and merging their findings with other programs to make the bigger picture. © 2019 Frontiers Media S.A.. All rights reserved.
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    13/14 translocation in a man with reproductive failure - Mitotic and meiotic studies
    (1980)
    Mićić, Miroslava D. (7005218196)
    ;
    Nikoliš, Jovanka G. (6602309757)
    ;
    Mićić, Sava R. (7006493137)
    An inherited (maternal origin) 13/14 translocation with the nucleolus organizer regions eliminated and one centromere was found in an oligospermic man whose wife had had two spontaneous abortions. Meiotic studies revealed all stages of spermatogenesis with a trivalent configuration in diakinesis. Possible reasons for his subfertility and his mother's normal fertility are discussed. © 1980 Springer-Verlag.
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    13/14 translocation in a man with reproductive failure - Mitotic and meiotic studies
    (1980)
    Mićić, Miroslava D. (7005218196)
    ;
    Nikoliš, Jovanka G. (6602309757)
    ;
    Mićić, Sava R. (7006493137)
    An inherited (maternal origin) 13/14 translocation with the nucleolus organizer regions eliminated and one centromere was found in an oligospermic man whose wife had had two spontaneous abortions. Meiotic studies revealed all stages of spermatogenesis with a trivalent configuration in diakinesis. Possible reasons for his subfertility and his mother's normal fertility are discussed. © 1980 Springer-Verlag.
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    -174G/C interleukin-6 gene promoter polymorphism predicts therapeutic response to etanercept in rheumatoid arthritis
    (2013)
    Jančić, Ivan (24721867100)
    ;
    Arsenović-Ranin, Nevena (59662809600)
    ;
    Šefik-Bukilica, Mirjana (8118591400)
    ;
    Živojinović, Sladjana (35754184300)
    ;
    Damjanov, Nemanja (8503557800)
    ;
    Spasovski, Vesna (26655022200)
    ;
    Srzentić, Sanja (57204289670)
    ;
    Stanković, Biljana (35785023700)
    ;
    Pavlović, Sonja (7006514877)
    To examine whether -174G/C interleukin-6 (IL-6) gene polymorphism, previously reported to correlate with IL-6 level, influences response to etanercept therapy in patients with rheumatoid arthritis. Seventy-seven patients with active RA were studied, at baseline and 6- and 12-month follow-up after etanercept therapy. Treatment response was estimated according to the European League Against Rheumatism response criteria. RA patients were genotyped for -174G/C IL-6 gene polymorphism by the PCR-RFLP method, and influence of genotype at this polymorphism to clinical response to etanercept was assessed. After 12 months of treatment, the percentage of responders (patients who had DAS28 improvement >1.2) was significantly increased in patients carrying the IL-6 -174G/G genotype (95.7 %) compared with those with the G/C (75.6 %) or CC (44.4 %) genotype (p = 0.006 by Chi-square test). No significant difference in the mean values of DAS28 improvement was observed between groups with different genotype. RA patients with an IL-6 -174GG genotype respond to etanercept better than patients with GC or CC genotype. This finding, if confirmed in future studies, suggests that the -174G/C IL-6 polymorphism may be a genetic marker of responsiveness to tumor necrosis factor-alpha (TNF-α) blockers in RA. © 2012 Springer-Verlag Berlin Heidelberg.
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    -174G/C interleukin-6 gene promoter polymorphism predicts therapeutic response to etanercept in rheumatoid arthritis
    (2013)
    Jančić, Ivan (24721867100)
    ;
    Arsenović-Ranin, Nevena (59662809600)
    ;
    Šefik-Bukilica, Mirjana (8118591400)
    ;
    Živojinović, Sladjana (35754184300)
    ;
    Damjanov, Nemanja (8503557800)
    ;
    Spasovski, Vesna (26655022200)
    ;
    Srzentić, Sanja (57204289670)
    ;
    Stanković, Biljana (35785023700)
    ;
    Pavlović, Sonja (7006514877)
    To examine whether -174G/C interleukin-6 (IL-6) gene polymorphism, previously reported to correlate with IL-6 level, influences response to etanercept therapy in patients with rheumatoid arthritis. Seventy-seven patients with active RA were studied, at baseline and 6- and 12-month follow-up after etanercept therapy. Treatment response was estimated according to the European League Against Rheumatism response criteria. RA patients were genotyped for -174G/C IL-6 gene polymorphism by the PCR-RFLP method, and influence of genotype at this polymorphism to clinical response to etanercept was assessed. After 12 months of treatment, the percentage of responders (patients who had DAS28 improvement >1.2) was significantly increased in patients carrying the IL-6 -174G/G genotype (95.7 %) compared with those with the G/C (75.6 %) or CC (44.4 %) genotype (p = 0.006 by Chi-square test). No significant difference in the mean values of DAS28 improvement was observed between groups with different genotype. RA patients with an IL-6 -174GG genotype respond to etanercept better than patients with GC or CC genotype. This finding, if confirmed in future studies, suggests that the -174G/C IL-6 polymorphism may be a genetic marker of responsiveness to tumor necrosis factor-alpha (TNF-α) blockers in RA. © 2012 Springer-Verlag Berlin Heidelberg.
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    18F-fluorodeoxyglucose positron emission tomography / computed tomography in the diagnosis of secondary malignancies in a patient with Hodgkin lymphoma
    (2025)
    Pantić, Nikola (57221630977)
    ;
    Stojiljković, Milica (55217486100)
    ;
    Grujičić, Lenka (59909503300)
    ;
    Šaranović, Dragana Šobić (57234390300)
    ;
    Artiko, Vera (55887737000)
    Introduction The incidence of a second cancer among patients who have been treated for Hodgkin lymphoma (HL) is higher than the incidence of cancer in the general population.18F-fluorodeoxyglucose (18F-FDG) positron emission tomography / computed tomography is used in the evaluation of a number of malignancies. The aim of the article is to emphasize the importance of including a second primary cancer as a differential diagnosis among patients at risk. Case outline We present a case of a patient diagnosed with two separate malignancies almost two decades after the treatment of HL. Conclusion In patients previously treated for HL, a biopsy of lesions that show high 18F-FDG uptake should be advised, particularly if the location of the lesion is unusual for the primary diagnosis. © 2025, Serbia Medical Society. All rights reserved.
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    2018 Joint European consensus document on the management of antithrombotic therapy in atrial fibrillation patients presenting with acute coronary syndrome and/or undergoing percutaneous cardiovascular interventions: A joint consensus document of the European Heart Rhythm Association (EHRA), European Society of Cardiology Working Group on Thrombosis, European Association of Percutaneous Cardiovascular Interventions (EAPCI), and European Association of Acute Cardiac Care (ACCA) endorsed by the Heart Rhythm Society (HRS), Asia-Pacific Heart Rhythm Society (APHRS), Latin America Heart Rhythm Society (LAHRS), and Cardiac Arrhythmia Society of Southern Africa (CASSA)
    (2019)
    Lip, Gregory Y.H. (57216675273)
    ;
    Collet, Jean-Phillippe (7102328222)
    ;
    Haude, Michael (7006762859)
    ;
    Byrne, Robert (55941715200)
    ;
    Chung, Eugene H. (36810156500)
    ;
    Fauchier, Laurent (7005282545)
    ;
    Halvorsen, Sigrun (9039942100)
    ;
    Lau, Dennis (57202546036)
    ;
    Lopez-Cabanillas, Nestor (55429813100)
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    Lettino, Maddalena (6602951700)
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    Marin, Francisco (57211248449)
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    Obel, Israel (58077643400)
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    Rubboli, Andrea (7003890019)
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    Storey, Robert F. (7101733693)
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    Valgimigli, Marco (57222377628)
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    Huber, Kurt (35376715600)
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    Potpara, Tatjana (57216792589)
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    Lundqvist, Carina Blomström (55941853900)
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    Crijns, Harry (36079203000)
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    Steffel, Jan (8882159100)
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    Heidbüchel, Hein (7004984289)
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    Stankovic, Goran (59150945500)
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    Airaksinen, Juhani (55203490900)
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    Ten Berg, Jurrien M. (7003930354)
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    Capodanno, Davide (25642544700)
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    James, Stefan (34769603200)
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    Bueno, Hector (57218323754)
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    Morais, Joao (35916716800)
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    Sibbing, Dirk (10041326200)
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    Rocca, Bianca (55508871400)
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    Hsieh, Ming-Hsiung (55655404600)
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    Akoum, Nazem (15055456200)
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    Lockwood, Deborah J. (7102343335)
    ;
    Flores, Jorge Rafael Gomez (57206442861)
    ;
    Jardine, Ronald (7006687030)
    In 2014, a joint consensus document dealing with the management of antithrombotic therapy in atrial fibrillation (AF) patients presenting with acute coronary syndrome (ACS) and/or undergoing percutaneous coronary or valve interventions was published, which represented an effort of the European Society of Cardiology Working Group on Thrombosis, European Heart Rhythm Association (EHRA), European Association of Percutaneous Cardiovascular Interventions (EAPCI), and European Association of Acute Cardiac Care (ACCA) endorsed by the Heart Rhythm Society (HRS) and Asia-Pacific Heart Rhythm Society (APHRS). Since publication of this document, additional data from observational cohorts, randomized controlled trials, and percutaneous interventions as well as new guidelines have been published. Moreover, new drugs and devices/interventions are also available, with an increasing evidence base. The approach to managing AF has also evolved towards a more integrated or holistic approach. In recognizing these advances since the last consensus document, EHRA, WG Thrombosis, EAPCI, and ACCA, with additional contributions from HRS, APHRS, Latin America Heart Rhythm Society (LAHRS), and Cardiac Arrhythmia Society of Southern Africa (CASSA), proposed a focused update, to include the new data, with the remit of comprehensively reviewing the available evidence and publishing a focused update consensus document on the management of antithrombotic therapy in AF patients presenting with ACS and/or undergoing percutaneous coronary or valve interventions, and providing up-to-date consensus recommendations for use in clinical practice. European Society of Cardiology. All rights reserved. © The Author(s) 2018. For permissions.
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    2019 ESC Guidelines on diabetes, pre-diabetes, and cardiovascular diseases developed in collaboration with the EASD; [Guía ESC 2019 sobre diabetes, prediabetes y enfermedades cardiovasculares, en colaboración con la European Association for the Study of Diabetes (EASD)]
    (2020)
    Cosentino, Francesco (7006332266)
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    Grant, Peter J. (21933603900)
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    Aboyans, Victor (56214736500)
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    Bailey, Clifford J. (55608702800)
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    Ceriello, Antonio (7102926564)
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    Delgado, Victoria (24172709900)
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    Federici, Massimo (57213480560)
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    Filippatos, Gerasimos (7003787662)
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    Grobbee, Diederick E. (7103100613)
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    Hansen, Tina Birgitte (55861108500)
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    Huikuri, Heikki V. (14121483000)
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    Johansson, Isabelle (56689398300)
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    Jüni, Peter (7004263326)
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    Lettino, Maddalena (6602951700)
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    Marx, Nikolaus (57203048581)
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    Mellbin, Linda G. (15119015900)
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    Östgren, Carl J. (6603393828)
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    Rocca, Bianca (55508871400)
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    Roffi, Marco (7004532440)
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    Sattar, Naveed (7007043802)
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    Seferović, Petar M. (6603594879)
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    Sousa-Uva, Miguel (7003661979)
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    Valensi, Paul (7103187761)
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    Wheeler, David C. (7202992832)
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    Piepoli, Massimo Francesco (7005292730)
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    Birkeland, Kàre I. (56829046900)
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    Adamopoulos, Stamatis (55399885400)
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    Ajjan, Ramzi (8971034300)
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    Avogaro, Angelo (7004560383)
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    Baigent, Colin (56673911800)
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    Brodmann, Marianne (57088173800)
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    Bueno, Héctor (57218323754)
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    Ceconi, Claudio (57190051298)
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    Chioncel, Ovidiu (12769077100)
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    Coats, Andrew (35395386900)
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    Collet, Jean-Philippe (7102328222)
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    Collins, Peter (7402501228)
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    Cosyns, Bernard (57202595662)
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    Di Mario, Carlo (7101723312)
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    Fisher, Miles (7403501326)
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    Fitzsimons, Donna (57203953034)
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    Halvorsen, Sigrun (9039942100)
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    Hansen, Dominique (22234081800)
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    Hoes, Arno (57209077584)
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    Holt, Richard I.G. (8736780500)
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    Home, Philip (24518319800)
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    Katus, Hugo A. (24299225600)
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    Khunti, Kamlesh (7005202765)
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    Komajda, Michel (7102980352)
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    Lambrinou, Ekaterini (9039387200)
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    Landmesser, Ulf (6602879397)
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    Lewis, Basil S. (7401867678)
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    Linde, Cecilia (19735913300)
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    Lorusso, Roberto (25938348100)
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    Mach, François (7005352638)
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    Mueller, Christian (58068181500)
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    Neumann, Franz-Josef (7202219423)
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    Persson, Frederik (15521088200)
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    Petersen, Steffen E. (35430477200)
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    Petronio, Anna Sonia (56604816300)
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    Richter, Dimitrios J. (35434226200)
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    Rosano, Giuseppe M.C. (7007131876)
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    Rossing, Peter (59021427500)
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    Rydén, Lars (56443609500)
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    Shlyakhto, Evgeny (16317213100)
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    Simpson, Iain A. (7102735784)
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    Touyz, Rhian M. (7005833567)
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    Wijns, William (7006420435)
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    Wilhelm, Matthias (56596188500)
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    Williams, Bryan (7404503273)
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    Windecker, Stephan (7003473419)
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    Dean, Veronica (57223410945)
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    Gale, Chris P. (35837808000)
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    Hindricks, Gerhard (35431335000)
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    Iung, Bernard (55785385300)
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    Leclercq, Christophe (59630023200)
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    Merkely, Bela (7004434435)
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    Zelveian, Parounak H. (6603421475)
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    Scherr, Daniel (22986579300)
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    Jahangirov, Tofig (59854356500)
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    Lazareva, Irina (57203304822)
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    Shivalkar, Bharati (6603335485)
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    Naser, Nabil (6602268531)
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    Gruev, Ivan (24922537000)
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    Milicic, Davor (56503365500)
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    Petrou, Petros M. (35311833400)
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    Linhart, Aleš (7004149017)
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    Hildebrandt, Per (7102280090)
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    Hasan-Ali, Hosam (23570614700)
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    Fabryova, Lubomira (6603023815)
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    Fras, Zlatko (57217420437)
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    Jiménez-Navarro, Manuel F. (7003347150)
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    Marandi, Toomas (7801654145)
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    Lehto, Seppo (57196771022)
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    Mansourati, Jacques (55847760200)
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    Kurashvili, Ramaz (6701437492)
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    Siasos, Gerasimos (9732403100)
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    Lengyel, Csaba (6602980880)
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    Thrainsdottir, Inga S. (8290240600)
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    Aronson, Doron (7102685689)
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    Di Lenarda, Andrea (7004431576)
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    Trusinskis, Karlis (8049349300)
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    Saade, Georges (57226262541)
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    Benlamin, Hisham (57205698096)
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    Petrulioniene, Zaneta (24482298700)
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    Banu, Cristiana (57205698045)
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    Magri, Caroline Jane (24465343400)
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    David, Lilia (57198320591)
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    Boskovic, Aneta (25935849200)
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    Alami, Mohamed (7006212949)
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    Liem, An Ho (7006066944)
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    Bosevski, Marijan (16241026100)
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    Svingen, Gard Frodahl Tveitevaag (6504099582)
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    Janion, Marianna (7006611798)
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    Gavina, Cristina (15757643200)
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    Chowdhury, Tahseen Ahmad (7005365651)
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    Vinereanu, Dragos (6603080279)
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    Nedogoda, Sergey (6507198479)
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    Mancini, Tatiana (59783628100)
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    Ilic, Marina Deljanin (59090641800)
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    Norhammar, Anna (6603204971)
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    Lehmann, Roger (14022858600)
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    Mourali, Mohamed Sami (15762890600)
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    Ural, Dilek (6603790014)
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    Nesukay, Elena (57190673744)
    [No abstract available]
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    2019 EULAR points to consider for the assessment of competences in rheumatology specialty training
    (2021)
    Sivera, Francisca (15840570900)
    ;
    Alunno, Alessia (17342226500)
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    Najm, Aurélie (57093944800)
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    Avcin, Tadej (6602605283)
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    Baraliakos, Xenofon (10043334000)
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    Bijlsma, Johannes W (24473033300)
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    Badreh, Sara (57205607659)
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    Burmester, Gerd (35379799100)
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    Cikes, Nada (7003463349)
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    Da Silva, Jose Ap (57203106876)
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    Damjanov, Nemanja (8503557800)
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    Dougados, Maxime (35377488600)
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    Dudler, Jean (7004734033)
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    Edwards, Christopher J (55320858500)
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    Iagnocco, Annamaria (6603972277)
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    Lioté, Frédéric (57195959341)
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    Nikiphorou, Elena (35784968200)
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    Van Onna, Marloes (56147255900)
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    Stones, Simon R (57057817600)
    ;
    Vassilopoulos, Dimitrios (35517994100)
    ;
    Haines, Catherine (55755678600)
    ;
    Ramiro, Sofia (36551491700)
    Background and aim Striving for harmonisation of specialty training and excellence of care in rheumatology, the European League Against Rheumatism (EULAR) established a task force to develop points to consider (PtCs) for the assessment of competences during rheumatology specialty training. Methods A systematic literature review on the performance of methods for the assessment of competences in rheumatology specialty training was conducted. This was followed by focus groups in five selected countries to gather information on assessment practices and priorities. Combining the collected evidence with expert opinion, the PtCs were formulated by the multidisciplinary task force, including rheumatologists, medical educationalists, and people with rheumatic and musculoskeletal diseases. The level of agreement (LoA) for each PtC was anonymously voted online. Results Four overarching principles and 10 PtCs were formulated. The overarching principles highlighted the importance of assessments being closely linked to the rheumatology training programme and protecting sufficient time and resources to ensure effective implementation. In the PtCs, two were related to overall assessment strategy (PtCs 1 and 5); three focused on formative assessment and portfolio (PtCs 2-4); three focused on the assessment of knowledge, skills or professionalism (PtCs 6-8); one focused on trainees at risk of failure (PtC 9); and one focused on training the trainers (PtC 10). The LoA (0-10) ranged from 8.75 to 9.9. Conclusion These EULAR PtCs provide European guidance on assessment methods throughout rheumatology training programmes. These can be used to benchmark current practices and to develop future strategies, thereby fostering continuous improvement in rheumatology learning and, ultimately, in patient care. © Author(s) (or their.
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    2019 EULAR points to consider for the assessment of competences in rheumatology specialty training
    (2021)
    Sivera, Francisca (15840570900)
    ;
    Alunno, Alessia (17342226500)
    ;
    Najm, Aurélie (57093944800)
    ;
    Avcin, Tadej (6602605283)
    ;
    Baraliakos, Xenofon (10043334000)
    ;
    Bijlsma, Johannes W (24473033300)
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    Badreh, Sara (57205607659)
    ;
    Burmester, Gerd (35379799100)
    ;
    Cikes, Nada (7003463349)
    ;
    Da Silva, Jose Ap (57203106876)
    ;
    Damjanov, Nemanja (8503557800)
    ;
    Dougados, Maxime (35377488600)
    ;
    Dudler, Jean (7004734033)
    ;
    Edwards, Christopher J (55320858500)
    ;
    Iagnocco, Annamaria (6603972277)
    ;
    Lioté, Frédéric (57195959341)
    ;
    Nikiphorou, Elena (35784968200)
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    Van Onna, Marloes (56147255900)
    ;
    Stones, Simon R (57057817600)
    ;
    Vassilopoulos, Dimitrios (35517994100)
    ;
    Haines, Catherine (55755678600)
    ;
    Ramiro, Sofia (36551491700)
    Background and aim Striving for harmonisation of specialty training and excellence of care in rheumatology, the European League Against Rheumatism (EULAR) established a task force to develop points to consider (PtCs) for the assessment of competences during rheumatology specialty training. Methods A systematic literature review on the performance of methods for the assessment of competences in rheumatology specialty training was conducted. This was followed by focus groups in five selected countries to gather information on assessment practices and priorities. Combining the collected evidence with expert opinion, the PtCs were formulated by the multidisciplinary task force, including rheumatologists, medical educationalists, and people with rheumatic and musculoskeletal diseases. The level of agreement (LoA) for each PtC was anonymously voted online. Results Four overarching principles and 10 PtCs were formulated. The overarching principles highlighted the importance of assessments being closely linked to the rheumatology training programme and protecting sufficient time and resources to ensure effective implementation. In the PtCs, two were related to overall assessment strategy (PtCs 1 and 5); three focused on formative assessment and portfolio (PtCs 2-4); three focused on the assessment of knowledge, skills or professionalism (PtCs 6-8); one focused on trainees at risk of failure (PtC 9); and one focused on training the trainers (PtC 10). The LoA (0-10) ranged from 8.75 to 9.9. Conclusion These EULAR PtCs provide European guidance on assessment methods throughout rheumatology training programmes. These can be used to benchmark current practices and to develop future strategies, thereby fostering continuous improvement in rheumatology learning and, ultimately, in patient care. © Author(s) (or their.
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    2020 ESC Guidelines for the diagnosis and management of atrial fibrillation developed in collaboration with the European Association for Cardio-Thoracic Surgery (EACTS)
    (2021)
    Hindricks, Gerhard (35431335000)
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    Potpara, Tatjana (57216792589)
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    Van Gelder, Isabelle C. (7006440916)
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    Delassi, Tahar (57133107600)
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    Sisakian, Hamayak S. (22836045900)
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    Scherr, Daniel (22986579300)
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    De Pauw, Michel (7005722744)
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    Smajić, Elnur (6506217401)
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    Kautzner, Josef (56147270700)
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    Gerdes, Christian (7102116800)
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    Raatikainen, Pekka (55979950000)
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    Boveda, Serge (6701478201)
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    Vassilikos, Vassilios P. (35599391300)
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    Csanádi, Zoltán (6602782977)
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    Arnar, David O. (57196395115)
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    Galvin, Joseph (35308747300)
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    Kerimkulova, Alina (6507541067)
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    Njeim, Mario (37038018700)
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    Puodziukynas, Aras (12773148700)
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    Groben, Laurent (24067000300)
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    Sammut, Mark A. (59429090400)
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    Grosu, Aurel (58583397600)
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    Boskovic, Aneta (25935849200)
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    Moustaghfir, Abdelhamid (6701833888)
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    De Groot, Natasja (7005620503)
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    Poposka, Lidija (23498648800)
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    Anfinsen, Ole-Gunnar (6603679180)
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    Mitkowski, Przemyslaw P. (6603107478)
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    Cavaco, Diogo Magalhães (6602855444)
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    Siliste, Calin (8573758300)
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    Mikhaylov, Evgeny N. (35103083100)
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    Bertelli, Luca (57220400956)
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    Kojic, Dejan (57211564921)
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    Hatala, Robert (7006435549)
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    Fras, Zlatko (57217420437)
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    Arribas, Fernando (7003576312)
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    Juhlin, Tord (16032795200)
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    Sticherling, Christian (7003587552)
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    Abid, Leila (24334239900)
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    Atar, Ilyas (6603165669)
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    Sychov, Oleg (57195118600)
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    Bates, Matthew D.G. (58558031900)
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    Zakirov, Nodir U. (6602472382)
    [No abstract available]
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    2020 update of the WSES guidelines for the management of acute colonic diverticulitis in the emergency setting
    (2020)
    Sartelli, Massimo (6506102337)
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    Weber, Dieter G. (7402029194)
    ;
    Kluger, Yoram (55360783700)
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    Ansaloni, Luca (58203015800)
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    Coccolini, Federico (24478295400)
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    Abu-Zidan, Fikri (12786811900)
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    Augustin, Goran (22955694500)
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    Ben-Ishay, Offir (35147668400)
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    Biffl, Walter L. (7005596534)
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    Bouliaris, Konstantinos (36343215200)
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    Catena, Rodolfo (56427802600)
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    Ceresoli, Marco (56103723300)
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    Chiara, Osvaldo (6603761622)
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    Chiarugi, Massimo (7004037027)
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    Coimbra, Raul (7005758453)
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    Cortese, Francesco (57207558617)
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    Cui, Yunfeng (36016343600)
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    Damaskos, Dimitris (57108832200)
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    De' Angelis, Gian Luigi (57211564755)
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    Delibegovic, Samir (26640372300)
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    Demetrashvili, Zaza (12774275000)
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    De Simone, Belinda (35603299300)
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    Di Marzo, Francesco (25621080400)
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    Di Saverio, Salomone (12777436800)
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    Duane, Therese M. (6603955528)
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    Faro, Mario Paulo (55939986400)
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    Fraga, Gustavo P. (16416659200)
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    Gkiokas, George (9633456200)
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    Gomes, Carlos Augusto (15764934000)
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    Hardcastle, Timothy C. (22634561500)
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    Hecker, Andreas (35316087800)
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    Karamarkovic, Aleksandar (6507164080)
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    Kashuk, Jeffry (6508045822)
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    Khokha, Vladimir (55221789900)
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    Kirkpatrick, Andrew W. (7103368482)
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    Kok, Kenneth Y. Y. (7006862619)
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    Inaba, Kenji (57216735489)
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    Isik, Arda (57159146500)
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    Labricciosa, Francesco M. (56576409100)
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    Latifi, Rifat (6602717836)
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    Leppäniemi, Ari (7006103698)
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    Litvin, Andrey (57207954940)
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    Mazuski, John E. (7004389184)
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    Maier, Ronald V. (7201868098)
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    Marwah, Sanjay (7006074895)
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    McFarlane, Michael (35580706800)
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    Moore, Ernest E. (35351716300)
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    Moore, Frederick A. (35372847200)
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    Negoi, Ionut (57200640014)
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    Pagani, Leonardo (35884086000)
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    Rasa, Kemal (6506215331)
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    Rubio-Perez, Ines (55115808700)
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    Sakakushev, Boris (56156191300)
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    Sato, Norio (56156095800)
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    Sganga, Gabriele (6603960061)
    ;
    Siquini, Walter (6507874734)
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    Tarasconi, Antonio (56427930700)
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    Tolonen, Matti (57003023000)
    ;
    Ulrych, Jan (25622846800)
    ;
    Zachariah, Sannop K. (36156195200)
    ;
    Catena, Fausto (6603701993)
    Acute colonic diverticulitis is one of the most common clinical conditions encountered by surgeons in the acute setting. An international multidisciplinary panel of experts from the World Society of Emergency Surgery (WSES) updated its guidelines for management of acute left-sided colonic diverticulitis (ALCD) according to the most recent available literature. The update includes recent changes introduced in the management of ALCD. The new update has been further integrated with advances in acute right-sided colonic diverticulitis (ARCD) that is more common than ALCD in select regions of the world. © 2020 The Author(s).
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    2021 European Heart Rhythm Association Practical Guide on the Use of Non-Vitamin K Antagonist Oral Anticoagulants in Patients with Atrial Fibrillation
    (2021)
    Steffel, Jan (8882159100)
    ;
    Collins, Ronan (7403347537)
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    Antz, Matthias (6603780950)
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    Cornu, Pieter (37030660000)
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    Desteghe, Lien (56700411300)
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    Haeusler, Karl Georg (23569221900)
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    Oldgren, Jonas (6603101676)
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    Reinecke, Holger (7006169495)
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    Roldan-Schilling, Vanessa (7003480936)
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    Rowell, Nigel (16064598300)
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    Sinnaeve, Peter (57195541521)
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    Vanassche, Thomas (36519807400)
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    Potpara, Tatjana (57216792589)
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    Camm, A. John (57204743826)
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    Heidbüchel, Hein (7004984289)
    ;
    Lip, Gregory Y. H (57216675273)
    ;
    Deneke, Thomas (55909968600)
    ;
    Dagres, Nikolaos (7003639393)
    ;
    Boriani, Giuseppe (57675336900)
    ;
    Chao, Tze-Fan (35335897300)
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    Choi, Eue-Keun (35558194200)
    ;
    Hills, Mellanie True (55293781800)
    ;
    Santos, Itamar De Souza (57198312911)
    ;
    Lane, Deirdre A (57203229915)
    ;
    Atar, Dan (7005111567)
    ;
    Joung, Boyoung (6508263919)
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    Cole, Oana Maria (57215932115)
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    Field, Mark (7201475768)
    [No abstract available]
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    24-hour serum cortisol profiles in women with polycystic ovary syndrome
    (1993)
    Prelević, G.M. (7004326204)
    ;
    Würzburger, M.I. (6603925241)
    ;
    Balint-perić, L. (6701858516)
    We studied the 24-h blood profiles of Cortisol in obese and non-obese women with polycystic ovary syndrome (PCOS), for comparison with the levels in healthy women (controls). The levels of other hormones, such as androgens, which are known to be disturbed in PCOS, were also compared. Luteinizing hormone (LH) and androgen (testosterone, androstenedione and dehydroepiandrosterone sulfate (DHEAS)) concentrations were significantly (p < 0.005) raised in patients with PCOS, compared to those in control women. Sex hormone binding globulin (SHBG) concentration was significantly lower in women with PCOS, particularly in those who were overweight. There was a significant negative correlation between body mass index (BMI) and SHBG concentrations (r = -0.59;p = 0.006). Mean 24-h Cortisol concentrations were similar in women with PCOS and controls, as well as in the obese and non-obese PCOS patients. However, the 24-h blood Cortisol profile pattern was significantly different in women with PCOS as compared to the controls (p - 0.0039). Significantly lower Cortisol levels were observed during the night (levels were determined between 20.00 and 04.00 and are expressed as the area under the curve) in subjects with PCOS, compared to the control women (p = 0.02). These changes were most marked in the non-obese women with PCOS who had lower blood Cortisol levels during the night than either the controls or the obese PCOS subjects. Our finding of significantly lower Cortisol concentrations during the night could reflect a subtle abnormality of adrenal steroid secretion in women with PCOS. © 1993 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.
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    24-hour serum cortisol profiles in women with polycystic ovary syndrome
    (1993)
    Prelević, G.M. (7004326204)
    ;
    Würzburger, M.I. (6603925241)
    ;
    Balint-perić, L. (6701858516)
    We studied the 24-h blood profiles of Cortisol in obese and non-obese women with polycystic ovary syndrome (PCOS), for comparison with the levels in healthy women (controls). The levels of other hormones, such as androgens, which are known to be disturbed in PCOS, were also compared. Luteinizing hormone (LH) and androgen (testosterone, androstenedione and dehydroepiandrosterone sulfate (DHEAS)) concentrations were significantly (p < 0.005) raised in patients with PCOS, compared to those in control women. Sex hormone binding globulin (SHBG) concentration was significantly lower in women with PCOS, particularly in those who were overweight. There was a significant negative correlation between body mass index (BMI) and SHBG concentrations (r = -0.59;p = 0.006). Mean 24-h Cortisol concentrations were similar in women with PCOS and controls, as well as in the obese and non-obese PCOS patients. However, the 24-h blood Cortisol profile pattern was significantly different in women with PCOS as compared to the controls (p - 0.0039). Significantly lower Cortisol levels were observed during the night (levels were determined between 20.00 and 04.00 and are expressed as the area under the curve) in subjects with PCOS, compared to the control women (p = 0.02). These changes were most marked in the non-obese women with PCOS who had lower blood Cortisol levels during the night than either the controls or the obese PCOS subjects. Our finding of significantly lower Cortisol concentrations during the night could reflect a subtle abnormality of adrenal steroid secretion in women with PCOS. © 1993 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.
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    25(OH) vitamin D deficiency in lymphoid malignancies, its prevalence and significance. Are we fully aware of it?
    (2018)
    Djurasinović, Vladislava T. (35172762900)
    ;
    Mihaljević, Biljana S. (6701325767)
    ;
    Šipetić Grujičić, Sandra B. (6701802171)
    ;
    Ignjatović, Svetlana D. (55901270700)
    ;
    Trajković, Goran (9739203200)
    ;
    Todorović-Balint, Milena R. (55773026600)
    ;
    Antić, Darko A. (23979576100)
    ;
    Bila, Jelena S. (57208312102)
    ;
    Andjelić, Boško M. (6507067141)
    ;
    Jeličić, Jelena J. (56180044800)
    ;
    Vuković, Vojin M. (56180315400)
    ;
    Nikolic, Aleksandra M. (57217797364)
    ;
    Klek, Stanislaw (6602535381)
    Introduction: Vitamin D has a role in cellular differentiation, proliferation, apoptosis, and angiogenesis and therefore is studied as a prognostic factor in cancer. The aim of our study was to assess the prevalence and significance of 25(OH)D deficiency in patients with lymphoid malignancies. Methodology: Between January 2014 and June 2016 at the Clinic for Hematology, Clinical Center of Serbia, Belgrade, the pretreatment serum level of 25(OH)D was determined in 133 (62 women/71 men, median age 58 (18–84) years) previously untreated patients with lymphoid malignancy using a chemiluminescent immunoassay. From their medical records, we noted the age, clinical stage, Eastern Cooperative Oncology Group Performance Scale (ECOG PS), nutritional status using the Nutritional Risk Score 2002 (NRS2002), the time of year, comorbidity index, progression, and progression-free survival (PFS) for a median of 20 (1–32) months. The optimal cutoff point for prediction of outcome was determined using the Maximally Selected Rank Statistics. Results: There were 37 (27.8%) patients with the severe 25(OH)D deficiency ≤ 25 nmol/l, 80 (60.2%) with 25(OH)D deficiency 25–50 nmol/l, and 16 (12%) with 25(OH)D insufficiency 50–75 nmol/l. None of the patients had the desired normal level. There were significant differences between groups in regard to ECOG PS, NRS2002, type of lymphoma, and progression. The severely 25(OH)D-deficient patients had a shorter mean time until progression (P = 0.018). Cox regression analysis showed that 25(OH)D < 19.6 nmol/l remained the only significant parameter for PFS (HR = 2.921; 95% CI 1.307–6.529). Conclusion: The prevalence of 25(OH)D deficiency in the analyzed group of patients with lymphoid malignancies is high and greater in malnourished individuals. Patients with pretreatment serum 25(OH)D < 19.6 nmol/l had a significantly shorter PFS. © 2018, Springer-Verlag GmbH Germany, part of Springer Nature.
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    250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1
    (2002)
    Savić, Dušanka (18435454500)
    ;
    Rakočvić-Stojanović, Vidosava (6504357712)
    ;
    Keckarević, Dušan (6507380019)
    ;
    Čuljković, Biljana (37033675400)
    ;
    Stojković, Oliver (35618950700)
    ;
    Mladenoviić, Jelena (17340862900)
    ;
    Todoroviić, Slobodanka (17341717200)
    ;
    Apostolski, Slobodan (7004532054)
    ;
    Romac, Stanka (7003983993)
    Myotonic dystrophy type 1 (DM1) is associated with an expansion of CTG repeats in the 3′UTR of the DMPK gene. It is accepted, as in other trinucleotide diseases, that the number of the repeats is correlated with age at onset and severity of the disease. However, assessment of genotype-phenotype correlation in DM1 is complicated with the expansion-biased somatic instability of mutant alleles over time and difficulties in precise assessment of the number of repeats by standard Southern blot hybridization. In order to clarify this issue we defined DM1 expansion size in lymphocytes by three parameters: size of progenitor, average, and largest allele, using a more precise small-pool/long-range PCR technique. We found a negative linear correlation of age at onset and average expansion size in juvenile-adult DM1 patients (35 out of 46) whose progenitor allele is less than 245 repeats long. Our result favors the hypothesis of the existence of a threshold in the progenitor allele size beyond which number of CTG repeats does not influence age at onset. Potential clinical significance is that the average allele size could be a useful indicator for the age at onset in juvenile-adult DM1 patients with relatively short progenitor allele. To test whether somatic instability of mutant alleles influences the progression of DM1, patients were divided in three phenotypic classes according to the severity of neuromuscular symptoms. We showed that the largest expansion in each DM1 phenotypic class reflects somatic instability of mutant allele over time independently of progenitor allele size and patient's age at sampling. The mean of the largest expansion was significantly different between phenotypic classes, implying the possible association between expansion-biased somatic instability of mutant alleles over time and progression of neuromuscular symptoms. © 2002 Wiley-Liss, Inc.
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    250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1
    (2002)
    Savić, Dušanka (18435454500)
    ;
    Rakočvić-Stojanović, Vidosava (6504357712)
    ;
    Keckarević, Dušan (6507380019)
    ;
    Čuljković, Biljana (37033675400)
    ;
    Stojković, Oliver (35618950700)
    ;
    Mladenoviić, Jelena (17340862900)
    ;
    Todoroviić, Slobodanka (17341717200)
    ;
    Apostolski, Slobodan (7004532054)
    ;
    Romac, Stanka (7003983993)
    Myotonic dystrophy type 1 (DM1) is associated with an expansion of CTG repeats in the 3′UTR of the DMPK gene. It is accepted, as in other trinucleotide diseases, that the number of the repeats is correlated with age at onset and severity of the disease. However, assessment of genotype-phenotype correlation in DM1 is complicated with the expansion-biased somatic instability of mutant alleles over time and difficulties in precise assessment of the number of repeats by standard Southern blot hybridization. In order to clarify this issue we defined DM1 expansion size in lymphocytes by three parameters: size of progenitor, average, and largest allele, using a more precise small-pool/long-range PCR technique. We found a negative linear correlation of age at onset and average expansion size in juvenile-adult DM1 patients (35 out of 46) whose progenitor allele is less than 245 repeats long. Our result favors the hypothesis of the existence of a threshold in the progenitor allele size beyond which number of CTG repeats does not influence age at onset. Potential clinical significance is that the average allele size could be a useful indicator for the age at onset in juvenile-adult DM1 patients with relatively short progenitor allele. To test whether somatic instability of mutant alleles influences the progression of DM1, patients were divided in three phenotypic classes according to the severity of neuromuscular symptoms. We showed that the largest expansion in each DM1 phenotypic class reflects somatic instability of mutant allele over time independently of progenitor allele size and patient's age at sampling. The mean of the largest expansion was significantly different between phenotypic classes, implying the possible association between expansion-biased somatic instability of mutant alleles over time and progression of neuromuscular symptoms. © 2002 Wiley-Liss, Inc.
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