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12 p, 1.2 MB |
Current clinical practice for thromboprophylaxis management in patients with Cushing's syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN)
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van Haalen, F.M. (Leiden University Medical Center) ;
Kaya, M. (Leiden University Medical Center) ;
Pelsma, I.C.M. (Leiden University Medical Center) ;
Dekkers, O.M. (Leiden University Medical Center) ;
Biermasz, N.R. (Leiden University Medical Center) ;
Cannegieter, S.C. (Leiden University Medical Center) ;
Huisman, M.V. (Leiden University Medical Center) ;
van Vlijmen, B.J.M. (Leiden University Medical Center) ;
Feelders, R.A. (Erasmus University Medical Center) ;
Klok, F.A. (Leiden University Medical Center) ;
Pereira, A.M. (Leiden University Medical Center) ;
Stochholm, K. (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Fliers, E. (Amsterdam UMC. University Medical Center) ;
Castinetti, F. (Assistance Publique-Hôpitaux de Marseille) ;
Brue, T. (Assistance Publique-Hôpitaux de Marseille) ;
Bertherat, J. (Assistance Publique -Consortium Cochin. Robert Debré. Necker. St Antoine. La Pitié Salpétrière) ;
Scaroni, C. (Hospital-University of Padova) ;
Colao, A. (Azienda Ospedaliera Universitaria "Federico II") ;
Giordano, R. (Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino) ;
Druce, M.R. (Barts Health -NHS Foundation Trust) ;
Beckers, A. (Centre Hospitalier Universitaire de Liège) ;
Spranger, J. (Charité - Universitätsmedizin Berlin) ;
Driessens, N. (Cliniques Universitaires de Bruxelles -Hôpital Erasme) ;
Maiter, D. (UCL Cliniques Universitaires Saint-Luc) ;
Feldt-Rasmussen, U. (Copenhagen University Hospital) ;
Feelders, R. (Erasmus MC: University Medical Center Rotterdam) ;
Webb, S. M 1952- (Institut d'Investigació Biomèdica Sant Pau) ;
Dattani, M. (Ormond Street Hospital -NHS Foundation Trust) ;
Husebye, E. (Haukeland University Hospital) ;
Zilaitiene, B. (Lithuanian University of Health Sciences) ;
Gaztambide, S. (Hospital Universitario Cruces) ;
Gatto, F. (IRCCS Ospedale Policlinico San Martino) ;
Ferone, D. (IRCCS Ospedale Policlinico San Martino) ;
Persani, L. (University of Milan) ;
Chiodini, I. (University of Milan) ;
Höybye, C. (Karolinska Institute) ;
Biermasz, N.R. (Leiden University Medical Center) ;
Klok, F.A. (Leiden University Medical Center) ;
Dekkers, O.M. (Leiden University Medical Center) ;
Meijer, O.C. (Leiden University Medical Center) ;
Reincke, M. (Ludwig-Maximilian-University Munich) ;
Vila, G. (Medical University of Vienna) ;
Perry, C. (NHS Greater Glasgow and Clyde Board) ;
Heck, A. (Oslo University Hospital HF) ;
Stancampiano, M.R. (Scientific Institute San Raffaele) ;
van de Ven, A. (Radboud University Nijmegen Medical Centre -Including Amalia's Children Hospital) ;
Johannsson, G. (Sahlgrenska University Hospital) ;
Ragnarsson, O. (Sahlgrenska University Hospital) ;
Tóth, M. (Semmelweis University) ;
Volke, V. (Tartu University Hospital) ;
Toumba, M. (Aretaeio Hospital Nicosia) ;
Canu, Letizia (University of Florence) ;
Vojtková, J. (Jessenius Medical Faculty Comenius University) ;
Al-Mrayat, M. (University Hospital Southampton -NHS Foundation Trust) ;
Fassnacht, M. (University Hospital Würzburg) ;
Detomas, M. (University Hospital Würzburg) ;
Karavitaki, N. (Birmingham Health Partners) ;
van der Klauw, M.M. (University Medical Centre Groningen) ;
Groselj, U. (University Children's Hospital) ;
Elenkova, A. (Medical University Sofia) ;
Unuane, D. (UZ Brussels) ;
Universitat Autònoma de Barcelona
Cushing's syndrome (CS) is associated with an hypercoagulable state and an increased risk of venous thromboembolism (VTE). Evidence-based guidelines on thromboprophylaxis strategies in patients with CS are currently lacking. [...]
2022 -  10.1186/s13023-022-02320-x
Orphanet Journal of Rare Diseases, Vol. 17 Núm. 1 (december 2022) , p. 178
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8 p, 867.3 KB |
Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe
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Nowotny, Hanna (Universität München) ;
Neumann, Uta (Charité - Universitätsmedizin Berlin) ;
Tardy-Guidollet, Véronique (Université Lyon I) ;
Ahmed, S. Faisal (University of Glasgow) ;
Baronio, Federico (Paediatric Endocrinology Unit) ;
Battelino, Tadej (Department of Endocrinology) ;
Bertherat, Jérôme (Hôpitaux Universitaires Paris-Centre) ;
Blankenstein, Oliver (Charité - Universitätsmedizin Berlin) ;
Bonomi, Marco (University of Milan) ;
Bouvattier, Claire (Hôpital de Bicêtre) ;
Brac de la Perrière, Aude (Fédération d'Endocrinologie) ;
Brucker, Sara (Department of Women's Health) ;
Cappa, Marco (Endocrinology Unit) ;
Chanson, Philippe (Assistance Publique-Hôpitaux de Paris) ;
Claahsen-van der Grinten, Hedi L. (Amalia Children's Hospital) ;
Colao, Annamaria (Universita' Federico II di Napoli) ;
Cools, Martine (Universitair Ziekenhuis Gent) ;
Davies, Justin H. (Universitair Ziekenhuis Gent) ;
Dörr, Helmut-Günther (Universitätsklinikum Erlangen) ;
Fenske, Wiebke K. (University Hospital Bonn (Bonn, Alemanya)) ;
Ghigo, Ezio (University of Turin) ;
Giordano, Roberta (University of Turin) ;
Gravholt, Claus H. (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Huebner, Angela (Universitätsklinikum Dresden) ;
Husebye, Eystein Sverre (Haukeland University Hospital (Bergen, Noruega)) ;
Igbokwe, Rebecca (Birmingham Women's Hospital) ;
Juul, Anders (Copenhagen University Hospital) ;
Kiefer, Florian W. (University of Vienna) ;
Léger, Juliane (AP-HP Paris Nord Université de Paris) ;
Menassa, Rita (Université Lyon I) ;
Meyer, Gesine (Goethe University Frankfurt) ;
Neocleous, Vassos (Cyprus School of Molecular Medicine) ;
Phylactou, Leonidas A. (Cyprus School of Molecular Medicine) ;
Rohayem, Julia (Centre of Reproductive Medicine and Andrology) ;
Russo, Gianni (Scientific Institute San Raffaele) ;
Scaroni, Carla (Università di Padova) ;
Touraine, Philippe (Sorbonne Université) ;
Unger, Nicole (University Hospital Essen (Alemanya)) ;
Vojtková, Jarmila (Comenius University in Bratislava) ;
Yeste Fernández, Diego (Hospital Universitari Vall d'Hebron) ;
Lajic, Svetlana (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Reisch, Nicole (Medizinische Klinik und Poliklinik IV) ;
Universitat Autònoma de Barcelona
To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. A questionnaire was designed and distributed, including 17 questions collecting quantitative and qualitative data. [...]
2022 - 10.1530/EJE-21-0554
European journal of endocrinology, Vol. 186 (march 2022) , p. K17-K24
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9 p, 817.8 KB |
Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis
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Nowotny, Hanna (Klinikum der Universität München) ;
Ahmed, S. Faisal (University of Glasgow) ;
Bensing, Sophie (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Beun, Johan G. (AdrenalNET (Holanda)) ;
Brösamle, Manuela (University Hospital of Würzburg) ;
Claahsen van der Grinten, Hedi (Radboud University Medical Centre) ;
Clemente, Maria (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Falhammar, Henrik (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Hahner, Stefanie (University Hospital of Würzburg) ;
Husebye, Eystein Sverre (Haukeland University Hospital (Bergen, Noruega)) ;
Kristensen, Jette (European Patient Advocacy Group for Adrenal Diseases (Holanda)) ;
Loli, Paola (San Raffaele Vita-Salute University) ;
Lajic, Svetlana (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Reisch, Nicole (Klinikum der Universität München) ;
Universitat Autònoma de Barcelona
Adrenal insufficiency (AI) is a life-threatening condition requiring life-long glucocorticoid (GC) substitution therapy, as well as stress adaptation to prevent adrenal crises. The number of individuals with primary and secondary adrenal insufficiency in Europe is estimated to be 20-50/100. [...]
2021 - 10.1007/s12020-021-02649-6
Endocrine, march 2021, p. 1-9
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17 p, 2.5 MB |
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
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Bastard, Paul (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ;
Rosen, Lindsey B. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Zhang, Qian (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ;
Michailidis, Eleftherios (The Rockefeller University. Laboratory of Virology and Infectious Disease) ;
Hoffmann, Hans-Heinrich (The Rockefeller University. Laboratory of Virology and Infectious Disease) ;
Zhang, Yu (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Dorgham, Karim (Sorbonne Université. Centre d'Immunologie et des Maladies Infectieuses) ;
Philippot, Quentin (University of Paris. Imagine Institute) ;
Rosain, Jérémie (University of Paris. Imagine Institute) ;
Béziat, Vivien (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ;
Manry, Jeremy (University of Paris. Imagine Institute) ;
Shaw, Elana (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Haljasmägi, Liis (University of Tartu. Institute of Biomedicine and Translational Medicine) ;
Peterson, Pärt (University of Tartu. Institute of Biomedicine and Translational Medicine) ;
Lorenzo, Lazaro (University of Paris. Imagine Institute) ;
Bizien, Lucy (University of Paris. Imagine Institute) ;
Trouillet-Assant, Sophie (Lyon University. International Center of Research in Infectiology) ;
Dobbs, Kerry (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Almeida de Jesus, Adriana (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Belot, Alexandre (Lyon Immunopathology Federation. Hospices Civils de Lyon) ;
Kallaste, Anne (Internal Medicine Clinic. Tartu University Hospital) ;
Catherinot, Emilie (Hôpital Foch) ;
Tandjaoui-Lambiotte, Yacine (Avicenne Hospital. Assistance Publique Hôpitaux de Paris) ;
Le Pen, Jérémie (The Rockefeller University. Laboratory of Virology and Infectious Disease) ;
Kerner, Gaspard (University of Paris. Imagine Institute) ;
Bigio, Benedetta (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ;
Seeleuthner, Yoann (University of Paris. Imagine Institute) ;
Yang, Rui (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ;
Bolze, Alexandre (Helix) ;
Spaan, András N. (University Medical Center Utrecht) ;
Delmonte, Ottavia M. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Abers, Michael S. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Aiuti, Alessandro (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ;
Casari, Giorgio (Medical Genetics. IRCCS Ospedale San Raffaele) ;
Lampasona, Vito (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ;
Piemonti, Lorenzo (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ;
Ciceri, Fabio (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ;
Bilguvar, Kaya (Yale University School of Medicine. Department of Genetics) ;
Lifton, Richard P. (Rockefeller University. Laboratory of Human Genetics and Genomics) ;
Vasse, Marc (Consorcio Hospital. General Universitario) ;
Smadja, David M. (Paris University. European Georges Pompidou Hospital) ;
Migaud, Mélanie (University of Paris. Imagine Institute) ;
Hadjadj, Jérome (Hôpital Cochin. Department of Internal Medicine) ;
Terrier, Benjamin (Université de Paris. Department of Internal Medicine) ;
Duffy, Darragh (Pasteur Institute) ;
Quintana-Murci, Lluis (Institut Pasteur. Collège de France) ;
van de Beek, Diederik (Amsterdam UMC. University Medical Center) ;
Roussel, Lucie (McGill University Health Centre) ;
Vinh, Donald C. (McGill University Health Centre) ;
Tangye, Stuart (Garvan Institute of Medical Research (Darlinghurst, Austràlia)) ;
Haerynck, Filomeen (Ghent University Hospital. (Bèlgica)) ;
Dalmau, David (Fundació Docència i Recerca Mútua Terrassa) ;
Martínez Picado, Francisco Javier (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Brodin, Petter (Karolinska Institutet (Estocolm, Suècia)) ;
Nussenzweig, Michel (Howard Hughes Medical Institute) ;
Boisson-Dupuis, Stephanie (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ;
Rodríguez-Gallego, Carlos (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Vogt, Guillaume (University of Paris. Neglected Human Genetics Laboratory) ;
Mogensen, Trine Hyrup (Aarhus University) ;
Oler, Andrew J. (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ;
Gu, Jingwen (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ;
Burbelo, Peter D. (Division of Intramural Research. National Institute of Dental Craniofacial Research (NIDCR). NIH) ;
Cohen, Jeffrey I. (Laboratory of Infectious Diseases. Division of Intramural Research. NIAID. NIH) ;
Biondi, Andrea (Pediatric Department. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBMOspedale) ;
Bettini, Laura Rachele (Pediatric Department. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBMOspedale) ;
D'Angio, Mariella (University of Milano-Bicocca. Pediatric Department) ;
Bonfanti, Paolo (University of Milano-Bicocca. Department of Infectious Diseases) ;
Rossignol, Patrick (University of Lorraine. Plurithematic Clinical Investigation Centre) ;
Mayaux, Julien (APHP Pitié-Salpêtrière Hospital) ;
Rieux-Laucat, Frédéric (Laboratory of Immunogenetics of Pediatric Autoimmune Diseases. INSERM. UMR 1163. University of Paris. Imagine Institute) ;
Husebye, Eystein (Karolinska Institutet (Estocolm, Suècia). Department of Medicine) ;
Fusco, Francesca (Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso'. IGB-CNR) ;
Ursini, Matilde Valeria (Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso'. IGB-CNR) ;
Imberti, Luisa (Centro di Ricerca Emato-oncologica AIL (CREA) Laboratory. Diagnostic Department. ASST Spedali Civili di Brescia) ;
Sottini, Alessandra (Centro di Ricerca Emato-oncologica AIL (CREA) Laboratory. Diagnostic Department. ASST Spedali Civili di Brescia) ;
Paghera, Simone (Centro di Ricerca Emato-oncologica AIL (CREA) Laboratory. Diagnostic Department. ASST Spedali Civili di Brescia) ;
Quiros-Roldan, Eugenia (Department of Infectious and Tropical Diseases. University of Brescia. ASST Spedali di Brescia) ;
Rossi, Camillo (Direzione Sanitaria. ASST Spedali Civili di Brescia) ;
Castagnoli, Riccardo (Department of Pediatrics. Fondazione IRCCS Policlinico San Matteo. University of Pavia) ;
Montagna, Daniela (Department of Clinical. Surgical. Diagnostic and Pediatric Sciences. University of Pavia) ;
Licari, Amelia (Department of Pediatrics. Fondazione IRCCS Policlinico San Matteo. University of Pavia) ;
Marseglia, Gian Luigi (Department of Pediatrics. Fondazione IRCCS Policlinico San Matteo. University of Pavia) ;
Duval, Xavier (Centre d'Investigation Clinique. Inserm CIC 1425. Hôpital Bichat Claude Bernard. APHP) ;
Ghosn, Jade (Hôpital Bichat) ;
Tsang, John S. (Multiscale Systems Biology Section. Laboratory of Immune System Biology. NIAID. NIH) ;
Goldbach-Mansky, Raphaela (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Kisand, Kai (Institute of Biomedicine and Translational Medicine. University of Tartu) ;
Lionakis, Michail S. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Puel, Anne (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ;
Zhang, Shein-Ying (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ;
Holland, Steven M. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Gorochov, Guy (Département d'Immunologie. AP-HP. Hôpital Pitié-Salpétrière) ;
Jouanguy, Emmanuelle (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ;
Rice, Charles M. (Laboratory of Virology and Infectious Disease. The Rockefeller University) ;
Cobat, Aurélie (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ;
Notarangelo, Luigi (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Abel, Laurent (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ;
Su, Helen C. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Casanova, Jean-Laurent (Pediatric Hematology and Immunology Unit. Necker Hospital for Sick Children. AP-HP) ;
The University of Hong Kong
HGID Lab ;
The University of Hong Kong
NIAID-USUHS Immune Response to COVID Group ;
COVID Clinicians ;
COVID-STORM Clinicians ;
Imagine COVID Group ;
French COVID Cohort Study Group ;
The Milieu Intérieur Consortium ;
CoV-Contact Cohort ;
Amsterdam UMC Covid-19 Biobank ;
COVID Human Genetic Effort ;
Universitat Autònoma de Barcelona
Interindividual clinical variability in the course of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is vast. We report that at least 101 of 987 patients with life-threatening coronavirus disease 2019 (COVID-19) pneumonia had neutralizing immunoglobulin G (IgG) autoantibodies (auto-Abs) against interferon-w (IFN-w) (13 patients), against the 13 types of IFN-a (36), or against both (52) at the onset of critical disease; a few also had auto-Abs against the other three type I IFNs. [...]
2020 - 10.1126/science.abd4585
Science, Vol. 370 Núm. 6515 (september 2020) , p. eabd4585
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