3,961 results on '"University Hospital Brno"'
Search Results
2. Early Aortic vaLve surgEry Versus wAtchful waitiNg Strategy in Severe Asymptomatic aOrtic reguRgitation (ELEANOR)
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University Hospital Hradec Kralove, Centre of Cardiovascular and Transplantation Surgery, Czech Republic, St. Anne's University Hospital Brno, Czech Republic, VZW Cardiovascular Research Center Aalst, General University Hospital, Prague, University Clinical Centre of Republic of Srpska, and Radka Kockova, MD, Ph.D., Associate Professor
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- 2024
3. Multicenter Comparison of Interictal HFO as a Predictor of Seizure Freedom (multiHFO)
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McGill University, University of Michigan, University of Calgary, Cook Children's Health Care System, St. Anne's University Hospital Brno, Czech Republic, Mayo Clinic, Thomas Jefferson University, UMC Utrecht, and Schweizerisches Epilepsie Zentrum
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- 2023
4. Noninvasive Temporal Interference Stimulation: Modulating Associative Memory by Targeting Deep-brain Targets (Deep-HiPs)
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St. Anne's University Hospital Brno, Czech Republic
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- 2023
5. Regenerative Stem Cell Therapy for Stroke in Europe 1-RESSTORE1
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Horizon 2020 - European Commission, University Grenoble Alps, Servicio Madrileño de Salud, Madrid, Spain, St. Anne's University Hospital Brno, Czech Republic, Andaluz Health Service, University of Glasgow, University of Eastern Finland, Etablissement Français du Sang, Tampere University, Histocell SL, Spain, Medfiles CRO, Finland, Institut National de la Santé Et de la Recherche Médicale, France, Hospices Civils de Lyon, Association Groupe ESSEC, NOVADISCOVERY SAS, France, Finovatis, Centre Hospitalier Universitaire de Besancon, Assistance Publique - Hôpitaux de Paris, University Hospital, Toulouse, University Hospital, Bordeaux, University Hospital, Caen, Fundación Instituto de Estudios de Ciencias de la Salud de Castilla y León, Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, Servicio de Salud de Castilla La Mancha, Albacete, Spain, Servizo Galego de Saude, Santiago de Compostela, Spain, Pirkanmaa Hospital District, Tampere, Finland, Hospital Vall d'Hebron, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta, and CH Sainte-Anne, Paris, France
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- 2023
6. Neuroimaging in Acute Stroke (e-Stroke)
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St. Anne's University Hospital Brno, Czech Republic, Na Homolce Hospital, General University Hospital, Prague, Pardubice Hospital, University Hospital Hradec Kralove, University Hospital, Motol, University Hospital Kralovske Vinohrady, Hospital Pisek, Vitkovice Hospital, České Budějovice Hospital, Jihlava Hospital, Brno University Hospital, Karvina Miners Hospital, Regional Hospital Liberec, Vyskov Hospital, Thomayer University Hospital, Municipal Hospital Ostrava, Regional Hospital Mlada Boleslav, and Regional Hospital Pribram
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- 2023
7. DELIRIUM SCREENING, INCIDENCE AND MANAGEMENT OBSERVATIONAL STUDY IN 2024 - THE CZECH REPUBLIC (DELUSION)
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Masaryk University, Department of Neurology, University Hospital Brno, and Petr Štourač, MD, Clinical Professor
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- 2023
8. Catheter-directed Thrombolysis in Intermediate-high Risk Acute Pulmonary Embolism (PRAGUE-26)
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Charles University, University Hospital Ostrava, University Hospital Olomouc, University Hospital Brno, St. Anne´s University Hospital Brno, General University Hospital in Prague, University Hospital Pilsen, Pardubice Hospital, and Viktor Kocka, Chief Interventional cardiologist
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- 2022
9. Effect of Two Different Doses of Dexamethasone in Patients With ARDS and COVID-19 (REMED)
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Masaryk University, Vascular surgery, University hospital Královské Vinohrady, Prague, General University Hospital in Prague, University Hospital Ostrava, St. Anne's University Hospital Brno, University Hospital Motol Prague, University Hospital Olomouc, University Hospital Plzeň, Tomáš Baťa Regional Hospital, Military University Hospital Praha, and Jan Malaska, MD. Ph.D. EDIC
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- 2023
10. The Effect of Transcranial Direct Current Stimulation on Visual Attention in Mild Cognitive Impairment
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St. Anne's University Hospital Brno, Czech Republic
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- 2023
11. Ultra-high-frequency ECG for Prediction of Left Ventricular Remodeling
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St. Anne's University Hospital Brno, Czech Republic, Regional Hospital Liberec, and Karol Curila, Principal investigator
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- 2023
12. Nutrition Childhood Cancer Survivors
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St. Anne's University Hospital Brno, Czech Republic
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- 2022
13. The Diagnosis of Superinfections in Mechanically Ventilated Covid-19 Patients (SUPER-BAL)
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St. Anne's University Hospital Brno, Czech Republic and Jan Hudec, MD, physician
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- 2021
14. Regenerative Stem Cell Therapy for Stroke in Europe (RESSTORE)
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Horizon 2020 - European Commission, University Grenoble Alps, Servicio Madrileño de Salud, Madrid, Spain, St. Anne's University Hospital Brno, Czech Republic, Andaluz Health Service, University of Glasgow, University of Eastern Finland, Etablissement Français du Sang, Tampere University, Histocell SL, Spain, Medfiles CRO, Finland, Institut National de la Santé Et de la Recherche Médicale, France, Hospices Civils de Lyon, Association Groupe ESSEC, NOVADISCOVERY SAS, France, Finovatis, Centre Hospitalier Universitaire de Besancon, Assistance Publique - Hôpitaux de Paris, University Hospital, Toulouse, University Hospital, Bordeaux, University Hospital, Caen, Fundación Instituto de Estudios de Ciencias de la Salud de Castilla y León, Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, Servicio de Salud de Castilla La Mancha, Albacete, Spain, Servizo Galego de Saude, Santiago de Compostela, Spain, Pirkanmaa Hospital District, Tampere, Finland, Hospital Vall d'Hebron, and Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta
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- 2021
15. PRediction of Vagal Nerve Stimulation EfficaCy In Drug-reSistant Epilepsy (PRECISE)
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St. Anne's University Hospital Brno, Czech Republic, University Hospital, Motol, and Na Homolce Hospital
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- 2021
16. The Effect of Transcranial Direct Current Stimulation on Visual Attention - Single Sessions
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St. Anne's University Hospital Brno, Czech Republic
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- 2021
17. Azithromycin Added to Hydrochloroquine in Patients Admitted to Intensive Care With COVID-19: Randomised Controlled Trial (AZIQUINE-ICU)
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Masaryk Hospital Usti nad Labem, University Hospital Pilsen, The Faculty Hospital Na Bulovce, St. Anne's University Hospital Brno, Czech Republic, University Hospital, Motol, General University Hospital, Prague, University Hospital Olomouc, and Frantisek Duska, MD, PhD, Dr
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- 2020
18. Antibody Detection in COVID-19 Cured Patients (SARS-CoV-2-CZ-Immunity) (SARSCoV2CZImun)
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Ministry of Health, Czech Republic, Masaryk University, Institute for Clinical and Experimental Medicine, Brno University Hospital, St. Anne's University Hospital Brno, Czech Republic, Masaryk Memorial Cancer Institute, Regional Public Health Office of the South Moravian Region based in Brno, Czech Republic, Public Health Office of the Capital City of Prague, Czech Republic, and Regional Public Health Office of the Central Bohemian Region based in Prague, Czech Republic
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- 2020
19. Evaluation of a Simple Pharmacokinetic Tool (myPKFiT™) to Guide Personalized Factor VIII Dosing in Patients With Hemophilia
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St. Paul's Hospital, Montreal Children's Hospital of the MUHC, Queen's University, University Hospital, Motol, The University Hospital Brno, Royal Children's Hospital, Sydney Children's Hospitals Network, Royal Prince Alfred Hospital, Sydney, Australia, and Victor Blanchette, Medical Director, Pediatric Thrombosis and Hemostasis Program
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- 2020
20. Modulation of Cognition and Brain Connectivity by Noninvasive Brain Stimulation in Patients With Mild Cognitive Impairment Due to Alzheimer's Disease (LUSTR)
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St. Anne's University Hospital Brno, Czech Republic
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- 2019
21. The Prehospital Selection of Acute Stroke Patients
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University of Ostrava, Agel Research and Training Institute, Emergency Medical Service Ostrava, Ostrava, Czech Republic, Municipal Hospital Ostrava, Ostrava, Czech Republic, St. Anne's University Hospital Brno, Czech Republic, and Angels Initiative, European Stroke Organisation, Czech branch
- Published
- 2019
22. Modern Myorelaxation Procedure and Reversal of Neuromuscular Blockade With General Anesthesia for Caesarean Section (RocSugIO)
- Author
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St. Anne's University Hospital Brno, Czech Republic, University Hospital Olomouc, IGA - internal grant agency, Ministry of Health, and Petr Štourač, MD, MD
- Published
- 2016
23. Mortality Following Surgery for Proximal Femoral Fractures (HipMo)
- Author
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St. Anne's University Hospital Brno, Czech Republic and Petr Štourač, MD, MD, Ph.D.
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- 2016
24. Evaluation of lipoprotein(a) in the prevention and management of atherosclerotic cardiovascular disease: A survey among the Lipid Clinics Network
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Catapano, Alberico L, Tokgözoğlu, Lale, Banach, Maciej, Gazzotti, Marta, Olmastroni, Elena, Casula, Manuela, Ray, Kausik K, the Lipid Clinics Network, Alaa ABDELRAZIK (University Hospital of North Midland, United Kingdom), Alberto MELLO E SILVA (Sociedade Portuguesa de Aterosclerose, Portugal), Alexander VONBANK (VIVIT Institute, Austria), Alexandros, D TSELEPIS (Dept of Chemistry, Atherothrombosis Research Center, University of Ioannina, Greece), Alper SONMEZ (Department of Endocrinology and Metabolism, Ankara Guven Hospital, Turkey), Angelina PASSARO (Department of Translational Medicine, University of Ferrara &, Center for the Study and Treatment of Metabolic Diseases, Atherosclerosis, and Clinical Nutrition, University Hospital of Ferrara Arcispedale Sant’Anna, Italy), Anja VOGT (Medizinische Klinik und Poliklinik IV, Klinikum der Universit¨at München, Germany), Ann MERTENS (Clinical and Experimental Endocrinology, Leuven, Ku, Leuven, Belgium), Ann VERHAEGEN (Antwerp University Hospital, Belgium), Arman, S POSTADZHIYAN (Medical University of Sofia, Saint Anna University Hospital, Departement of Cardiology, Bulgaria), BAHADIR KIRILMAZ (Canakkale Onsekiz Mart University, Medical Faculty Cardiology Dept, Baris GUNGOR (University of Health Sciences Dr. Siyami Ersek Hospital, Turkey), Berit S HEDEGAARD (Aalborg University, Denmark), Bertrand CARIOU (Nantes Universit´e, Chu, Nantes, Cnrs, Inserm, l’institut du thorax, Nantes, France), Britta OTTE (Universit¨atsklinikum Münster, Lipidambulanz, Germany), Bu˘gra ¨OZKAN (Mersin University, Turkey), of cardiology, Christ BERGE (Dept., Unversity Hopsital, Haukeland., Norway), F EBENBICHLER (Department for Internal Medicine I, Christoph, Medical University Innsbruck, Austria), Christoph J BINDER (Medical University of Vienna, Austria), Christoph OLIVIER (Department of Cardiology and Angiology, University Heart Center Freiburg-Bad Krozingen, Faculty of Medicine, University of Freiburg, Conrad AZZOPARDI (Mater Dei Hospital, Malta), Cristina SOLER (Lipid Unit, Hospital de Sta Caterina, Spain), Dan GAITA (Universitatea de Medicina si Farmacie Victor Babes din Timisoara &, Clinica de Cardiologie, Institutul de Boli Cardiovasculare Timisoara, Romania), Daniel WEGHUBER (Department of Pediatrics, Paracelsus Medical University, Dilek URAL (Koç University School of Medicine Department of Cardiology, Turkey), Diogo CRUZ (Hospital de Cascais - Dr. Jos´e de Almeida, Portugal), Dragos VINEREANU (University of Medicine and Pharmacy, University and Emergency Hospital, Bucharest, Romania), Elena D PENCU (Grand Hˆopital de Charleroi GHDC, Belgium), Emil HAGSTR¨OM (Dept of medical sciences, Uppsala, University, Sweden), Erik B SCHMIDT (Aalborg University, Denmark), Erik, S STROES (Dept of vascular medicine, Amsterdamumc, The, Netherlands), Evangelos LIBEROPOULOS (1st Department of Propedeutic Medicine, School of Medicine, National and Kapodistrian University of Athens, General Hospital of Athens Laiko, Fabian DEMEURE (CHU UCL Namur - Site Godinne, Belgium), Fabio FIMIANI (Azienda Ospedaliera di Rilievo Nazionale AORN Dei Colli, Monaldi', 'V., Unit of Inherited and Rare Cardiovascular Diseases, Italy, ), Fabio PELLEGATTA (Center for the Study of Atherosclerosis. Bassini Hospital. Cinisello Balsamo, Italy), Fahri BAYRAM (Erciyes University, Turkey), Finn L HENRIKSEN (Department of Cardiology Odense University Hospital, Denmark), Florian H¨OLLERL (1st Medical Department, Landstrasse, Clinic, Vienna Health Association, Francesco CIPOLLONE (Clinica Medica Institute of, Department of Medicine and Aging Sciences, d’Annunzio' University, 'G., Francisco ARAÚJO (Hospital Lusíadas, Portugal), Franck BOCCARA (Sorbonne Universit´e, Groupe de Recherche Clinique number 22, C2MV—Complications Cardiovasculaires et M´etaboliques chez les Patients Vivant avec le Virus de l’Immunod´eficience Humaine, Institut National de la Sant´e et de la Recherche M´edicale Unit´e Mixte de Recherche, S 938, Centre de Recherche Saint-Antoine, Institut Hospital Universitaire de Cardiom ´etabolisme et Nutrition Cardiologie, Hˆopital Saint Antoine Assistance Publique–Hˆopitaux de Paris, Paris, France), François PAILLARD (Cardiologie et Centre Clinico-Biologique des Lipides et Ath´eroscl´erose, Chu, Rennes, France), Imre University Teaching Hospital, Gabor SIMONYI (DBC St., Metabolic, Center, Lipid, Center, Hungary), Gabriella IANNUZZO (Department of Clinical Medicine and Surgery. University of Naples Federico II, Italy), Giuseppe MANDRAFFINO (Department of Clinical and Experimental Medicine, - Lipid Center, University of Messina, Graham BAYLY (Dept Clinical Biochemistry, University Hospitals Bristol, United, Kingdom), Gustavs LATKOVSKIS (Institute of Cardiology and Regenerative Medicine, University of Latvia &, Latvian Center of Cardiology, Pauls Stradins Clinical University Hospital &, University of Latvia, Latvia), Gy¨orgy PARAGH (Division of Metabolic Disorders, Department of Internal Medicine, University of Debrecen, Debrecen, Hungary), Hana ROSOLOVA (Charles University Prague Medical Hospital in Pilsen, Czech Republic), Handrean SORAN (Central Manchester University Hospital NHS Foundation Trust, United Kingdom), Helle KANSTRUP (Department of cardiology, Aarhus University hospital, Denmark), Hermann TOPLAK (Department of Medicine, Division of Endocrinology and Diabetology, Medical University Graz, Hülya ÇIÇEKÇIO ˘GLU (ankara bilkent city hospital, Turkey), Inanc ARTAC (Department of Cardiology, Kafkas University Hospital, Ioanna GOUNI-BERTHOLD (Center for Endocrinology, Diabetes and Preventive Medicine, University of Cologne, Faculty of Medicine and University Hospital Cologne, Irfan, V DUZEN (Gaziantep University, Cardiology, Department, Isabel M PALMA (CHUPORTO - Centro Hospitalar Universit ´ario do Porto, Portugal), Istvan REIBER (Szent Gyorgy University Teaching Hospital of Fejer County, Hungary), Iveta DZIVITE-KRISANE (Children’s University Hospital, Latvia), Jeanine, E ROETERS VAN LENNEP (Department of Internal medicine, Erasmus MC University Medical Center, Jean-Luc, J BALLIGAND (Institut de Recherche Exp´erimentale et Clinique, Universite catholique de Louvain, Bruxelles), Joao C PORTO (CHUC, Portugal), Jo˜ao, S DUARTE (Hospital Egas Moniz, Lisboa, Portugal), Johan DE SUTTER (AZ Maria Middelares Hospital Gent, Belgium), Jos´e L´OPEZ-MIRANDA (Lipid and Arteriosclerosis Unit. Department of Internal Medicine. Hospital Universitario Reina Sofia. IMIBIC. University of Cordoba. CiberOBN, Spain), Jose M MOSTAZA (Hospital La Paz-Carlos III, Spain), Jurgita PLISIENE (Lithuanian University of Health sciences, Lithuania), Kadir, U MERT (Eskis ¸ehir Osmangazi University, Department of Cardiology, Kirsten, B HOLVEN (Department of Nutrition, University of Oslo and National Advisory unit on FH, Oslo University Hospital, Kjetil RETTERSTØL (The Lipid Clinic, Oslo University Hospital and Department of Nutrition, University of Oslo, Kristian, K THOMSEN (University Hospital of South Denmark, Esbjerg, Denmark), Lale TOKGOZOGLU (Hacettepe University, Turkey), Laszlo BAJNOK (1st Department of Medicine, Medical, School, University of Pecs, Lia E BANG (Copenhagen University Hospital, Denmark), Liliana GRIGORE (IRCCS Multimedica, Italy), Lluís MASANA (Hospital Universitari Sant Joan. Universitat Rovira i Virgili. CIBERDEM. Reus, Spain), Loukianos S RALLIDIS (University General Hospital Attikon, Greece), Maciej BANACH (Department of Preventive Cardiology and Lipidology, Medical University of Lodz, Poland), Małgorzata WALU´S-MIARKA (Jagiellonian University Medical College, Of Metabolic Diseases and Diabetology, Dept., Manuel CASTRO CABEZAS (Franciscus Gasthuis &, Vlietland Rotterdam, The Netherlands), Marcello ARCA (Sapienza University of Rome, Italy), Margus VIIGIMAA (North Estonia Medical Centre, Tallinn University of Technology, Estonia), Martin, P BOGSRUD (Unit for Cardiac and Cardiovascular Genetics, Matej MLINARIˇC (Department of Endocrinology, Diabetes and Metabolism, University Children’s Hospital, University Medical Centre Ljubljana, Slovenia), Matteo PIRRO (Section of Internal Medicine, Angiology and Arteriosclerosis Diseases, Maurizio AVERNA (Department PROMISE-University of Palermo &, Istituto di Biofisica, Consiglio Nazionale delle Ricerche, Palermo, Italy), Meral KAYIKCIOGLU (Ege University Medical School Department of Cardiology, Turkey), Merete HEITMANN (Bispebjerg-Frederiksberg University Hospital, Denmark), Mette MOURIDSEN (Department of Cardiology, Herlev and Gentofte Hospital, University of Copenhagen, Michal VRABLIK (3rd Department of Internal Medicine, General University Hospital and 1st Medical Faculty, Charles, University, Prague, Czech, Republic), Michel FARNIER (PEC2, University of Bourgogne Franche-Comt´e, Laboratory Medicine, Michel R LANGLOIS (Dept., Jan Hospital, AZ St., Belgium), Milad KHEDR (Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Muge ILDIZLI DEMIRBAS (Kartal Kosuyolu Research and Training Hospital, Turkey), Myra TILNEY (Lipid Clinic, Mater Dei Hospital &, Dept of Medicine, University of Malta Medical School, Malta), Nadia CITRONI (Internal Medicine, APSS Trento Hospital, Of Internal Medicine, Niels P RIKSEN (Dept., Radboud university medical center, Nikolay M RUNEV (UMHAT Alexandrovska, Bulgaria), Nora KUPSTYTEKRISTAPONE (Hospital of Lithuanian University of Health Sciences Kaunas Clinics, Lithuania), Olena MITCHENKO (NSC, Clinical and Regenerative Medicine of the NAMS of Ukraine, Ukraine), Oliver WEING¨ARTNER (Universit¨atsklinikum Jena, Department of Internal Medicine, I, Oner OZDOGAN (University of Health Sciences, Izmir Faculty of Medicine, Tepecik Training and Research Hospital, Ovidio MU˜NIZGRIJALVO (Hospital Virgen del Rocío, Spain), Ozcan BASARAN (Mugla Sitki Kocman University, Pankaj GUPTA (University Hospitals of Leicester, United Kingdom), Paolo PARINI (Cardio Metabolic Unit, Karolinska, Institutet, and Theme Inflammation and Ageing, Karolinska University Hospital Huddinge, Patrizia SUPPRESSA (Department of Internal Medicine and rare disease Centre, Bari, Italy), Paul DOWNIE (Salisbury NHS Foundation trust, United Kingdom), Pavel JESINA (Metabolic Center General University Hospital, Czech Republic), of Internal Medicine, Pavel KRAML (Dept., Third Faculty of Medicine, Charles University and Kr´alovsk´e Vinohrady University Hospital Prague, Pawel BURCHARDT (Department of Cardiology, Cardiovascular, Unit, Hospital, J. Stru´s., Pozna´n, &, Department of Hypertension, Angiology and Internal Medicine, Poznan University of Medical Sciences, Pozna´n, Poland), Pedro VALDIVIELSO (Hospital VIRGEN DE LA VICTORIA, Spain), Pedro VON HAFE (Instituto Cuf, Portugal), Dept, Peter FASCHING (5th Med., Clinic, Ottakring, Philippe MOULIN (Hospices civils de Lyon/INSERM/Universit ´e Lyon1, Hˆopital Louis Pradel, F´ed´eration, D’Endocrinologie, Quit´eria RATO (Sociedade Portuguesa de Aterosclerose, Portugal), Reinhold INNERHOFER (Medical University Vienna, Austria), Renata C´IFKOV´A (Center for Cardiovascular Prevention, Charles University in Prague, First Faculty of Medicine and Thomayer University Hospital, Rene VALERO (Aix Marseille Univ, Aphm, Inserm, Inrae, C2vn, University Hospital La Conception, Department of Nutrition, Metabolic Diseases and Endocrinology, Scicali, Roberto, Robin URB´ANEK (Internal medicine, Obezita-Ormiga, s. r. o., Roma KAVALIAUSKIENE (Klaip˙ eda Seamen’s Hospital, Lituania), Roman CIBULKA (Department of paramedic science, medical diagnostics studies and public health, Faculty of Health Care Studies, University of West Bohemia, Sabina ZAMBON (Department of Medicine, - DIMED, University of Padova, Sergio D’ADDATO (University of Bologna. IRCCS S. Orsola Bologna, Italy), Stanislav ZEMEK (Lipidova ambulance, Czech Republic), Stefano ROMEO (Gothenburg University, Sweden), Stephanie K¨ONEMANN (Department of Internal Medicine, B, University Medicine Greifswald, DZHK (German Centre for Cardiovascular Research), Susanne GREBER-PLATZER (Clinical Division of Pediatric Pulmonology, Allergology and Endocrinology, Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Thomas STULNIG (Clinical Division of Endocrinology and Metabolism, Department of Medicine III, Medical University Vienna &, Third Medical Department and Karl Landsteiner Institute for Metabolic Diseases and Nephrology, Clinic, Hietzing, Vienna, Austria), Thomas MUHR (Dept of Cardiology, Link¨oping University Hospital, Tina, Z KHAN (Consultant Cardiologist, Royal Brompton and Harefield Hospitals Part of Guy’s and St Thomas’ NHS Foundation Trust, Tomas FREIBERGER (Centre of Cardiovascular Surgery and Transplantation, Brno &, Medical, Faculty, Masaryk, University, Brno, Tom´aˇs ˇS´ALEK (Metabolic Clinic, Tomas Bata Hospital, Zlín, Tomas VASYLIUS (Republican Panevezys hospital, Of Cardiology, Dep., Lithuania), Ulrich LAUFS (Klinik und Poliklinik für Kardiologie, Universit ¨atsklinikum Leipzig, Ulrike SCHATZ (University Hospital Carl Gustav Carus Dresden at the Technical University Dresden, Department of Internal Medicine III, Urh GROSELJ (UMC, - University Children’s Hospital Ljubljana, University of Ljubljana, Victoria MARCO-BENEDI (Hospital Universitario Miguel Servet, Iisa, Cibercv, Vincent MAHER (Advanced Lipid Management and Research ALMAR centre, Tallaght University Hospital, Ireland), Vladimír BLAHA (University Hospital Hradec Kr´alov´e and Charles University, Faculty of Medicine in Hradec Kr´alov´e, 3rd Department of Internal Medicine, - Metabolism and Gerontology, Vladimir SOSKA (Department of Clinical Biochemistry, St. Anne’s University Hospital Brno, 2nd Clinic of Internal Medicine, Masaryk University Brno, Volker JJ SCHETTLER (Centre of Nephrology G¨ottingen, Germany), Wolfgang REINHARDT (SUS Malmoe, Sweden), Xavier PINT´O (Hospital Universitari de Bellvitge-Idibell-UB-CiberObn, Spain), Yoto YOTOV (Second Cardiology Clinic, Marina, University Hospital Sv., Medical University of Varna, Zaneta PETRULIONIENE (Vilnius University Medical Faculty, Vilnius University Hospital Santaros klinikos, Lithuania), ˇZeljko REINER (Department for Metabolic Diseases, University Hospital Center Zagreb, and Croatia, ).
- Subjects
Clinicians ,Clinical evaluation ,Cardiology and Cardiovascular Medicine ,Cardiovascular risk ,Lipoprotein(a) - Published
- 2023
25. A Growing Journey From Neurotrophins To Metabotrophins In Cardiometabolic Diseases
- Author
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Aloe, Luigi, Fondazione Iret Tecnopolo R. Levi-Montalcini Rome, Italy, Vinciguerra, Manlio, Department of Translational Stem Cell Biology, Research Institute, Medical University, Varna, Bulgaria, Tonchev, Anton B., Departments of Anatomy and Cell Biology and Translational Stem Cell Biology, Research Institute, Medical University, Varna, Bulgaria, Fiore, Marco, Institute of Biochemistry and Cell Biology, Section of Neurobiology, National Research Council (CNR), Rome, Italy, Deleva, Nadezhda, Department of Neurology, Medical University, Varna, Bulgaria, Frohlich, Jan, International Clinical Research Center, St. Anne’s University Hospital, Brno, Czech Republic, and Chaldakov, George N.
- Subjects
metabolism, metabotrophic factors, cardiometabolic diseases, NGF, BDNF, Alzheimer`s disease - Abstract
Currently, obesity has been recognized as a prime risk in the development of car-diometabolic diseases (CMD) and neurodegenerative diseases (NDD). The patho-genesis and therapy of CMD are immensely complex at the cellular and molecular levels. This scenario raises the question of how such a complexity may be grappled in a more tangible manner. Since 2003, we have been thinking “what nobody has yet thought about that everybody sees”, namely, matabotrophic factors (MTF, metabotrophins). The latter include mainly (i) the neurotrophins nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF), and (ii) the adipomyo-kines adiponectin, irisin, BDNF, fibroblast growth factor-21 alike as adipose- and skeletal muscle-derived signaling proteins (these latter discussed in another review in the present volume of Adipobiology). Herein, we argue that obesity and related CMD and NDD, particularly Alzheimer’s disease, may be viewed as MTF-deficient diseases. Further studies on MTF signatures and ramifications in these diseases are required. These would provide greater insights on how we can make MTF work for the improvement of physiological and psychological quality of human life.
- Published
- 2021
26. Atomic force microscopy combined with human pluripotent stem cell derived cardiomyocytes for biomechanical sensing
- Author
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Ivana Acimovic, Vladimír Rotrekl, Anton Salykin, Alain Lacampagne, Martin Pešl, Aleksandra Vilotić, Šárka Jelínková, Petr Dvorak, Albano C. Meli, Petr Skládal, Jan Pribyl, St. Anne’s University Hospital [Brno], Masaryk University and University Hospital Brno, Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)
- Subjects
Pluripotent Stem Cells ,0301 basic medicine ,Cardiac function curve ,Agonist ,Human stem cell ,medicine.drug_class ,[SDV]Life Sciences [q-bio] ,Cell Culture Techniques ,Drug Evaluation, Preclinical ,Biomedical Engineering ,Biophysics ,Nanotechnology ,Biosensing Techniques ,Embryoid body ,030204 cardiovascular system & hematology ,Biology ,Microscopy, Atomic Force ,Cell Line ,03 medical and health sciences ,0302 clinical medicine ,Cardiomyocyte contraction ,Electrochemistry ,medicine ,Humans ,Myocytes, Cardiac ,Induced pluripotent stem cell ,ComputingMilieux_MISCELLANEOUS ,Micromechanical biosensor ,Syncytium ,Isoproterenol ,Drug testing ,Equipment Design ,General Medicine ,Adrenergic beta-Agonists ,Adrenergic beta-1 Receptor Antagonists ,Myocardial Contraction ,Embryonic stem cell ,Biomechanical Phenomena ,3. Good health ,Cell biology ,030104 developmental biology ,Stem cell ,Biosensor ,Metoprolol ,Biotechnology - Abstract
Cardiomyocyte contraction and relaxation are important parameters of cardiac function altered in many heart pathologies. Biosensing of these parameters represents an important tool in drug development and disease modeling. Human embryonic stem cells and especially patient specific induced pluripotent stem cell-derived cardiomyocytes are well established as cardiac disease model.. Here, a live stem cell derived embryoid body (EB) based cardiac cell syncytium served as a biorecognition element coupled to the microcantilever probe from atomic force microscope thus providing reliable micromechanical cellular biosensor suitable for whole-day testing. The biosensor was optimized regarding the type of cantilever, temperature and exchange of media; in combination with standardized protocol, it allowed testing of compounds and conditions affecting the biomechanical properties of EB. The studied effectors included calcium , drugs modulating the catecholaminergic fight-or-flight stress response such as the beta-adrenergic blocker metoprolol and the beta-adrenergic agonist isoproterenol. Arrhythmogenic effects were studied using caffeine. Furthermore, with EBs originating from patient's stem cells, this biosensor can help to characterize heart diseases such as dystrophies.
- Published
- 2016
27. Directly Sequenced Genomes of Contemporary Strains of Syphilis Reveal Recombination-Driven Diversity in Genes Encoding Predicted Surface-Exposed Antigens
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Linda Grillová, Jan Oppelt, Lenka Mikalová, Markéta Nováková, Lorenzo Giacani, Anežka Niesnerová, Angel A. Noda, Ariel E. Mechaly, Petra Pospíšilová, Darina Čejková, Philippe A. Grange, Nicolas Dupin, Radim Strnadel, Marcus Chen, Ian Denham, Natasha Arora, Mathieu Picardeau, Christopher Weston, R. Allyn Forsyth, David Šmajs, Biologie des Spirochètes / Biology of Spirochetes, Institut Pasteur [Paris], Masaryk University [Brno] (MUNI), Central European Institute of Technology [Brno] (CEITEC MU), Brno University of Technology [Brno] (BUT), Departments of Medicine and Global Health, University of Washington [Seattle], Instituto de Medicina Tropical Pedro Kouri, Cristallographie (Plateforme) - Crystallography (Platform), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Veterinary Research Institute [Brno] (VRI), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Service de Dermatologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Masaryk University and University Hospital Brno, University Hospital Brno, Monash University [Melbourne], Melbourne Sexual Health Centre [Australia], Alfred Health, Universität Zürich [Zürich] = University of Zurich (UZH), GeneticPrime Dx, Department of Biology [San Diego], San Diego State University (SDSU), This research was supported by funds from the Faculty of Medicine, Masaryk University to junior researchers (LGr, MN, and PP), the Grant Agency of the Czechia (GA17-25455S) and by the Ministry of Health of the Czechia (17-31333A) to DŠ. Core Facility Bioinformatics of CEITEC Masaryk University is gratefully acknowledged for the obtaining of the scientific data presented in this manuscript. Computational resources were provided by the CESNET LM2015042 and the CERIT Scientific Cloud LM2015085, provided under the program 'Projects of Large Research, Development, and Innovations Infrastructures'., University of Zurich, Šmajs, David, Institut Pasteur [Paris] (IP), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Department of Biology [San Diego State Univ] (Biology SDSU), and MURGUET, SYLVIE
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Microbiology (medical) ,[SDV]Life Sciences [q-bio] ,Population ,lcsh:QR1-502 ,syphilis ,340 Law ,610 Medicine & health ,direct whole genome sequencing ,Genome ,Genetic recombination ,Microbiology ,2726 Microbiology (medical) ,lcsh:Microbiology ,03 medical and health sciences ,510 Mathematics ,Treponema pallidum subsp. pallidum ,medicine ,Genetic variability ,education ,[SDV.MP] Life Sciences [q-bio]/Microbiology and Parasitology ,Gene ,Original Research ,030304 developmental biology ,Genetics ,0303 health sciences ,education.field_of_study ,Genetic diversity ,Treponema ,biology ,030306 microbiology ,culture-independent bacterial enrichment ,2404 Microbiology ,Treponema pallidum subsp pallidum ,medicine.disease ,biology.organism_classification ,10218 Institute of Legal Medicine ,3. Good health ,[SDV] Life Sciences [q-bio] ,[SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology ,recombination- driven diversity ,Syphilis ,recombination-driven diversity - Abstract
We would like to thank Prof. Nicholas Robert Thomson (Wellcome Sanger Institute) for his valuable insights during the preparation of the manuscript. We also thank Robert Anthony Gaultney for his assistance with the English revision of the manuscript.; International audience; Syphilis, caused by Treponema pallidum subsp. pallidum (TPA), remains an important public health problem with an increasing worldwide prevalence. Despite recent advances in in vitro cultivation, genetic variability of this pathogen during infection is poorly understood. Here, we present contemporary and geographically diverse complete treponemal genome sequences isolated directly from patients using a methyl-directed enrichment prior to sequencing. This approach reveals that approximately 50% of the genetic diversity found in TPA is driven by inter- and/or intra-strain recombination events, particularly in strains belonging to one of the defined genetic groups of syphilis treponemes: Nichols-like strains. Recombinant loci were found to encode putative outer-membrane proteins and the recombination variability was almost exclusively found in regions predicted to be at the host-pathogen interface. Genetic recombination has been considered to be a rare event in treponemes, yet our study unexpectedly showed that it occurs at a significant level and may have important impacts in the biology of this pathogen, especially as these events occur primarily in the outer membrane proteins. This study reveals the existence of strains with different repertoires of surface-exposed antigens circulating in the current human population, which should be taken into account during syphilis vaccine development.
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- 2019
28. Hyperlipidaemia prevalence and cholesterol control in obstructive sleep apnoea: Data from the European sleep apnea database (ESADA)
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Gunduz, C., Basoglu, O. Kacmaz, Hedner, J., Bonsignore, M. R., Hein, H., Staats, R., Bouloukaki, I, Roisman, G., Pataka, A., Sliwinski, P., Ludka, O., Pepin, J. L., Grote, L., Steiropoulos, P., Verbraecken, Johan, Petiet, E., Trakada, G., Montserrat, J. M., Fietze, I, Penzel, T., Ondrej, L., Rodenstein, D., Masa, J. F., Schiza, S., Kent, B., McNicholas, W. T., Ryan, S., Riha, R. L., Kvamme, J. A., Schulz, R., Zou, D., Pepina, J. L., Levy, P., Bailly, S., Lavie, L., Lavie, P., Basoglu, O. K., Tasbakan, M. S., Varoneckas, G., Joppa, P., Tkacova, R., Barbe, F., Lombardi, C., Parati, G., Drummond, M., van Zeller, M., Marrone, O., Petitjean, M., Pretl, M., Vitols, A., Dogas, Z., Galic, T., Anttalainen, U., Saaresranta, T., Plywaczewski, R., Bielicki, P., Gunduz, C, Basoglu, O, Hedner, J, Bonsignore, M, Hein, H, Staats, R, Bouloukaki, I, Roisman, G, Pataka, A, Sliwinski, P, Ludka, O, Pepin, J, Grote, L, Steiropoulos, P, Verbraecken, J, Petiet, E, Trakada, G, Montserrat, J, Fietze, I, Penzel, T, Rodenstein, D, Masa, J, Schiza, S, Kent, B, Mcnicholas, W, Ryan, S, Riha, R, Kvamme, J, Schulz, R, Zou, D, Levy, P, Bailly, S, Lavie, L, Lavie, P, Tasbakan, M, Varoneckas, G, Joppa, P, Tkacova, R, Barbe, F, Lombardi, C, Parati, G, Drummond, M, van Zeller, M, Marrone, O, Petitjean, M, Pretl, M, Vitols, A, Dogas, Z, Galic, T, Anttalainen, U, Saaresranta, T, Plywaczewski, R, Bielicki, P, Tıp Fakültesi, Gunduz C., Basoglu O.K., Hedner J., Bonsignore M.R., Hein H., Staats R., Bouloukaki I., Roisman G., Pataka A., Sliwinski P., Ludka O., Pepin J.L., Grote L., Steiropoulos P., Verbraecken J., Petiet E., Trakada G., Montserrat J.M., Fietze I., Penzel T., Rodenstein D., Masa J.F., Schiza S., Kent B., McNicholas W.T., Ryan S., Riha R.L., Kvamme J.A., Schulz R., Zou D., Levy P., Bailly S., Lavie L., Lavie P., Tasbakan M.S., Varoneckas G., Joppa P., Tkacova R., Barbe F., Lombardi C., Parati G., Drummond M., van Zeller M., Marrone O., Petitjean M., Pretl M., Vitols A., Dogas Z., Galic T., Anttalainen U., Saaresranta T., Plywaczewski R., Bielicki P., SALAS, Danielle, Biruni University [Istanbul] (BU), Ege university, University of Gothenburg (GU), Sahlgrenska University Hospital [Gothenburg], Università degli studi di Palermo - University of Palermo, CNR-IBIM : National Research Council-Institute of Biomedicine and Molecular Immunology, St. Adolf-Stift Hospital [Reinbek, Germany] (SASH), Hospital de Santa Maria [Lisboa], University of Crete [Heraklion] (UOC), AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), General Hospital of Thessaloniki George Papanikolaou, Institute of Tuberculosis and Lung Diseases [Warsaw, Poland] (ITLD), University Hospital Brno, St. Anne’s University Hospital [Brno], Hypoxie et PhysioPathologie (HP2), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Centre Hospitalier Universitaire [Grenoble] (CHU), European Sleep Apnoea Database collaborators: P Steiropoulos, J Verbraecken, E Petiet, G Trakada, J M Montserrat, I Fietze, T Penzel, D Rodenstein, J F Masa, S Schiza, B Kent, W T McNicholas, S Ryan, R L Riha, J A Kvamme, R Schulz, D Zou, J L Pépin, P Levy, S Bailly, L Lavie, P Lavie, M S Tasbakan, G Varoneckas, P Joppa, R Tkacova, F Barbé, C Lombardi, G Parati, M Drummond, M van Zeller, O Marrone, M Petitjean, M Pretl, A Vitols, Z Dogas, T Galic, U Anttalainen, T Saaresranta, R Plywaczewski, P Bielicki, and European Sleep Apnoea Database Col
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Male ,0301 basic medicine ,[SDV]Life Sciences [q-bio] ,Polysomnography ,Hyperlipidemias ,Settore MED/10 - Malattie Dell'Apparato Respiratorio ,030204 cardiovascular system & hematology ,computer.software_genre ,03 medical and health sciences ,0302 clinical medicine ,Risk Factors ,Diabetes mellitus ,Prevalence ,Internal Medicine ,Humans ,Medicine ,cholesterol ,hyperlipidaemia ,hypoxia ,obesity ,sleep apnoea ,Obesity ,Sleep Apnea, Obstructive ,Database ,business.industry ,Confounding ,Sleep apnea ,Odds ratio ,Middle Aged ,medicine.disease ,respiratory tract diseases ,[SDV] Life Sciences [q-bio] ,Europe ,Cross-Sectional Studies ,030104 developmental biology ,Quartile ,Cardiovascular Diseases ,Cohort ,Female ,Human medicine ,business ,Body mass index ,computer - Abstract
Gunduz C, Basoglu OK, Hedner J, et al; onbehalf of the European Sleep Apnoea Databasecollaborators (Biruni University; Ege University;Gothenburg University; Sahlgrenska UniversityHospital; University of Palermo; CNR Institute ofBiomedicine and Molecular Immunology; St. AdolfStift; Hospital de Santa Maria; University of Crete;Antoine-Beclere Hospital; G. PapanikolaouHospital; Institute of Tuberculosis and LungDiseases; University Hospital Brno; St. Ann’sUniversity Hospital; Universite ́ Grenoble Alpes)Hyperlipidaemia prevalence and cholesterolcontrol in obstructive sleep apnoea: Data from theEuropean sleep apnea database (ESADA).J InternMed2019;286: 676–688.Background and objective.Obstructive sleep apnoea(OSA) and hyperlipidaemia are independent riskfactors for cardiovascular disease. This studyinvestigates the association between OSA andprevalence of hyperlipidaemia in patients of theEuropean Sleep Apnea Database (ESADA) cohort.Methods.The cross-sectional analysis included11 892 patients (age 51.9 12.5 years, 70% male,body mass index (BMI) 31.3 6.6 kg/m2, meanoxygen desaturation index (ODI) 23.7 25.5events/h) investigated for OSA. The independentodds ratio (OR) for hyperlipidaemia in relation tomeasures of OSA (ODI, apnoea-hypopnoea index,mean and lowest oxygen saturation) was deter-mined by means of general linear model analysiswith adjustment for important confounders suchas age, BMI, comorbidities and study site.Results.Hyperlipidaemia prevalence increased from15.1% in subjects without OSA to 26.1% in thosewith severe OSA,P
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- 2019
29. Generation of two Duchenne muscular dystrophy patient-specific induced pluripotent stem cell lines DMD02 and DMD03 (MUNIi001-A and MUNIi003-A)
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Martin Pešl, Lenka Jurikova, Eva Makaturová, Vladimír Rotrekl, Iveta Valášková, Petr Dvorak, Lenka Marková, Petr Vondráček, Alain Lacampagne, Šárka Jelínková, Albano C. Meli, Masaryk University [Brno] (MUNI), Faculty of Medicine [Brno] (MED / MUNI), International Clinical Research Center ICRC, St. Anne’s University Hospital [Brno], Department of Clinical Genetics, University hospital Brno, Brno 613 00, Czech Republic, Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), International Clinical Research Center ICRC, St. Anne's University Hospital Brno, Brno 602 00, Czech Republic, Department of Biology [Brno] (MED / MUNI), Masaryk University [Brno] (MUNI)-Masaryk University [Brno] (MUNI), MORNET, Dominique, Masaryk University and University Hospital Brno, and Department of Pediatric Neurology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic
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Male ,0301 basic medicine ,Homeobox protein NANOG ,musculoskeletal diseases ,Adolescent ,Duchenne muscular dystrophy ,[SDV]Life Sciences [q-bio] ,Induced Pluripotent Stem Cells ,Germ layer ,medicine.disease_cause ,Cell Line ,Dystrophin ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Child ,Induced pluripotent stem cell ,lcsh:QH301-705.5 ,ComputingMilieux_MISCELLANEOUS ,Sequence Deletion ,Mutation ,biology ,Skeletal muscle ,Cell Differentiation ,Exons ,Cell Biology ,General Medicine ,medicine.disease ,Muscular Dystrophy, Duchenne ,[SDV] Life Sciences [q-bio] ,030104 developmental biology ,medicine.anatomical_structure ,lcsh:Biology (General) ,Heart failure ,Cancer research ,biology.protein ,pluripotent stem cell lines ,Octamer Transcription Factor-3 ,030217 neurology & neurosurgery ,Developmental Biology - Abstract
Duchenne muscular dystrophy (DMD) affects 1:3500–5000 newborn boys and manifests with progressive skeletal muscle wasting, respiratory failure and eventual heart failure. Symptoms show different onset from patients' childhood to the second decade of age. We reprogrammed fibroblasts from two independent DMD patients with a complete loss of dystrophin expression, carrying deletions of exons 45–50 and 48–50. The resulting hiPSCs show expression of pluripotency markers (NANOG, OCT4, SSEA4), differentiation capacity into all three germ layers, normal karyotype, genetic identity to the originating parental fibroblasts and the patient-specific dystrophin mutation.
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- 2019
30. Post-Translational Modifications and Diastolic Calcium Leak Associated to the Novel RyR2-D3638A Mutation Lead to CPVT in Patient-Specific hiPSC-Derived Cardiomyocytes
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Petr Skládal, Marwan M. Refaat, Alain Lacampagne, Anton Salykin, Jan Přibyl, Melvin M. Scheinman, Andrew R. Marks, Vladimír Rotrekl, Adrien Moreau, Albano C. Meli, Philippe Chevalier, Sylvain Richard, Yvonne Sleiman, Andrey V. Kajava, Jonathan T. Lu, Steve Reiken, Monia Souidi, Petr Dvořák, Ivana Acimovic, Masaryk University, American University of Beirut [Beyrouth] (AUB), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, St. Anne’s University Hospital [Brno], Columbia University College of Physicians and Surgeons, Centre de recherche en Biologie Cellulaire (CRBM), Université Montpellier 1 (UM1)-Université Montpellier 2 - Sciences et Techniques (UM2)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), University of California [San Francisco] (UCSF), University of California, MORNET, Dominique, Masaryk University [Brno] (MUNI), Centre de recherche en Biologie cellulaire de Montpellier (CRBM), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), University of California [San Francisco] (UC San Francisco), University of California (UC), Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Université Montpellier 1 (UM1), Masaryk University and University Hospital Brno, American University of Beirut Faculty of Medicine and Medical Center, Physiologie des plantes et des champignons lors de l'infection, Bayer Cropscience-Centre National de la Recherche Scientifique (CNRS), Division de Rythmologie, Hospices Civils de Lyon (HCL), Department of biochemistry, Masaryk University, Faculty of Medicine, and Columbia University [New York]
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0301 basic medicine ,[SDV]Life Sciences [q-bio] ,CPVT ,ryanodine receptor ,hiPSC-derived cardiomyocytes ,calcium ,β-adrenergic receptor blockade ,flecainide ,post-translational modifications ,Clinical Sciences ,lcsh:Medicine ,030204 cardiovascular system & hematology ,Cardiovascular ,medicine.disease_cause ,Catecholaminergic polymorphic ventricular tachycardia ,Ventricular tachycardia ,Ryanodine receptor 2 ,Article ,03 medical and health sciences ,0302 clinical medicine ,[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system ,medicine ,[SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology ,2.1 Biological and endogenous factors ,[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology ,Aetiology ,beta-adrenergic receptor blockade ,Flecainide ,ComputingMilieux_MISCELLANEOUS ,Metoprolol ,Mutation ,Stem Cell Research - Induced Pluripotent Stem Cell ,Stem Cell Research - Induced Pluripotent Stem Cell - Human ,Ryanodine receptor ,business.industry ,Endoplasmic reticulum ,lcsh:R ,General Medicine ,Stem Cell Research ,medicine.disease ,3. Good health ,Cell biology ,[SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system ,Heart Disease ,030104 developmental biology ,cardiovascular system ,business ,medicine.drug - Abstract
Background: Sarcoplasmic reticulum Ca2+ leak and post-translational modifications under stress have been implicated in catecholaminergic polymorphic ventricular tachycardia (CPVT), a highly lethal inherited arrhythmogenic disorder. Human induced pluripotent stem cells (hiPSCs) offer a unique opportunity for disease modeling. Objective: The aims were to obtain functional hiPSC-derived cardiomyocytes from a CPVT patient harboring a novel ryanodine receptor (RyR2) mutation and model the syndrome, drug responses and investigate the molecular mechanisms associated to the CPVT syndrome. Methods: Patient-specific cardiomyocytes were generated from a young athletic female diagnosed with CPVT. The contractile, intracellular Ca2+ handling and electrophysiological properties as well as the RyR2 macromolecular remodeling were studied. Results: Exercise stress electrocardiography revealed polymorphic ventricular tachycardia when treated with metoprolol and marked improvement with flecainide alone. We found abnormal stress-induced contractile and electrophysiological properties associated with sarcoplasmic reticulum Ca2+ leak in CPVT hiPSC-derived cardiomyocytes. We found inadequate response to metoprolol and a potent response of flecainide. Stabilizing RyR2 with a Rycal compound prevents those abnormalities specifically in CPVT hiPSC-derived cardiomyocytes. The RyR2-D3638A mutation is located in the conformational change inducing-central core domain and leads to RyR2 macromolecular remodeling including depletion of PP2A and Calstabin2. Conclusion: We identified a novel RyR2-D3638A mutation causing 3D conformational defects and aberrant biophysical properties associated to RyR2 macromolecular complex post-translational remodeling. The molecular remodeling is for the first time revealed using patient-specific hiPSC-derived cardiomyocytes which may explain the CPVT proband’s resistance. Our study promotes hiPSC-derived cardiomyocytes as a suitable model for disease modeling, testing new therapeutic compounds, personalized medicine and deciphering underlying molecular mechanisms.
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- 2018
31. CD36 gene is associated with intraocular pressure elevation after intravitreal application of anti-VEGF agents in patients with age-related macular degeneration: Implications for the safety of the therapy
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Ondřej Bonczek, Naim Akhtar Khan, Vladimir J. Balcar, Petr Kolář, Daniela Vysloužilová, Omar Šerý, Laura Ewerlingová, Eva Vlková, Tomáš Zeman, Veronika Matušková, Department of Ophthalmology (Faculty of Medicine, Masaryk University), University Hospital Brno-Faculty of Medicine [Brno] (MED / MUNI), Masaryk University [Brno] (MUNI)-Masaryk University [Brno] (MUNI), Bosch Institute [Sydney], The University of Sydney, Discipline of Anatomy and Histology {University of Sydney], Equipe NuTox (LNC - U1231) (NUTOX), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Department of biochemistry, Masaryk University, Masaryk University [Brno] (MUNI), Institute of Animal Physiology and Genetics (Brno), Institute of Animal Physiology and Genetics, University Hospital Brno-Medical Faculty of Masaryk University Brno, The University of Sydney [Sydney], Equipe NuTox (LNC - U1231) ( NUTOX ), Lipides - Nutrition - Cancer [Dijon - U1231] ( LNC ), Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ), and Masaryk University
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0301 basic medicine ,CD36 Antigens ,Male ,Vascular Endothelial Growth Factor A ,Intraocular pressure ,genetic structures ,receptor ,Glaucoma ,Angiogenesis Inhibitors ,thrombospondin ,Polymerase Chain Reaction ,polymorphism ,chemistry.chemical_compound ,0302 clinical medicine ,Genotype ,Genetics (clinical) ,Schlemm´s canal ,Vascular endothelial growth factor ,Intravitreal Injections ,Female ,medicine.drug ,medicine.medical_specialty ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,Tonometry, Ocular ,[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology ,Ophthalmology ,Ranibizumab ,medicine ,Humans ,Adverse effect ,Intraocular Pressure ,Aged ,business.industry ,Retinal ,Macular degeneration ,medicine.disease ,eye diseases ,030104 developmental biology ,chemistry ,Pediatrics, Perinatology and Child Health ,030221 ophthalmology & optometry ,Wet Macular Degeneration ,Ocular Hypertension ,sense organs ,business ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
IF 1.886; International audience; Background: The wet form of age-related macular degeneration (AMD) is characterized by pathological vascularization of the outer retinal layers. The condition responds to treatment with antibodies against vascular endothelial growth factor (VEGF), but the patients receiving such anti-VEGF therapy sometimes show undesirable acute short-term increases in the intraocular pressure (IOP). The cause of this adverse effect is unknown, and here, we are testing a hypothesis that it is related to CD36 gene polymorphisms.Materials and Methods: A group of 134 patients with AMD were given three therapeutic doses of anti-VEGF antibody (ranibizumab) at monthly intervals. Their IOP was measured immediately before and 30 min after each injection. Patients’ DNA was analyzed, and the changes in IOP were matched against seven polymorphisms of the CD36 gene.Results: Three polymorphisms were found to be associated with increases in IOP: rs1049673 (p = 0.006), rs3211931 (p = 0.01), and rs1761667 (p = 0.043) at the time of the third injection only. Pronounced elevations (IOP > 25 mmHg) were associated with rs1049673 polymorphism: GC genotype (p < 0.01) and CC genotype (p < 0.05); both increasing the risk 2.6-fold, the presence of C-allele conferring a 1.5-fold greater risk and with rs3211931 polymorphism: AG genotype (p < 0.01) and GG genotype (p < 0.05); increasing the risk 2.6-fold (AG) and 2.7-fold (GG).Conclusions: CD36 receptor may be involved in mediating the effects of VEGF on IOP. The findings will help to identify the patients at risk of acutely elevated IOP following the anti-VEGF therapy.
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- 2017
32. Simultaneous Onset of Haematological Malignancy and COVID: An Epicovideha Survey
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Chiara Cattaneo, Jon Salmanton-García, Francesco Marchesi, Shaimaa El-Ashwah, Federico Itri, Barbora Weinbergerová, Maria Gomes Da Silva, Michelina Dargenio, Julio Dávila-Valls, Sonia Martín-Pérez, Francesca Farina, Jaap Van Doesum, Toni Valković, Caroline Besson, Christian Bjørn Poulsen, Alberto López-García, Pavel Žák, Martin Schönlein, Klára Piukovics, Ozren Jaksic, Alba Cabirta, Natasha Ali, Uluhan Sili, Nicola Fracchiolla, Giulia Dragonetti, Tatjana Adžić-Vukičević, Monia Marchetti, Marina Machado, Andreas Glenthøj, Olimpia Finizio, Fatih Demirkan, Ola Blennow, Maria Chiara Tisi, Ali S. Omrani, Milan Navrátil, Zdeněk Ráčil, Jan Novák, Gabriele Magliano, Moraima Jiménez, Carolina Garcia-Vidal, Nurettin Erben, Maria Ilaria Del Principe, Caterina Buquicchio, Rui Bergantim, Josip Batinić, Murtadha Al-Khabori, Luisa Verga, Tomáš Szotkowski, Michail Samarkos, Irati Ormazabal-Vélez, Stef Meers, Johan Maertens, László Imre Pinczés, Martin Hoenigl, Ľuboš Drgoňa, Annarosa Cuccaro, Yavuz M. Bilgin, Avinash Aujayeb, Laman Rahimli, Stefanie Gräfe, Mariarita Sciumè, Miloš Mladenović, Gökçe Melis Çolak, Maria Vittoria Sacchi, Anna Nordlander, Caroline Berg Venemyr, Michaela Hanáková, Nicole García-Poutón, Ziad Emarah, Giovanni Paolo Maria Zambrotta, Raquel Nunes Rodrigues, Raul Cordoba, Gustavo-Adolfo Méndez, Monika M. Biernat, Oliver A. Cornely, Livio Pagano, Institut Català de la Salut, [Cattaneo C] Hematology Unit, ASST-Spedali Civili, Brescia, Italy. [Salmanton-García J] University of Cologne, Faculty of Medicine, University Hospital Cologne, Translational Research, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Cologne, Germany. University of Cologne, Faculty of Medicine, University Hospital Cologne, Department I of Internal Medicine, Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf (CIO ABCD) and Excellence Center for Medical Mycology (ECMM), Cologne, Germany. [Marchesi F] Hematology and Stem Cell Transplant Unit, IRCCS Regina Elena National Cancer Institute, Rome, Italy. [El-Ashwah S] Oncology Center, Mansoura University, Mansoura, Egypt. [Itri F] San Luigi Gonzaga Hospital, Orbassano, Italy. [Weinbergerová B] Masaryk University and University Hospital Brno—Department of Internal Medicine, Hematology and Oncology, Brno, Czech Republic. [Cabirta A] Servei d’Hematologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Experimental Hematology, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Departament de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Jiménez M] Servei d’Hematologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Cattaneo C., Salmanton-García J., Marchesi F., El-Ashwah S., Itri F., Weinbergerová B., Gomes Da Silva M., Dargenio M., Dávila-Valls J., Martín-Pérez S., et al., Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, EPICOVIDEHA has received funds from Optics COMMITTM (COVID-19 Unmet Medical Needs and Associated Research Extension) COVID-19 RFP program by GILEAD Science, United States (Project 2020-8223)., and HAL UVSQ, Équipe
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Internal Diseases ,Cancer Research ,Sağlık Bilimleri ,Other subheadings::Other subheadings::/drug therapy [Other subheadings] ,İç Hastalıkları ,Clinical Medicine (MED) ,RECOMMENDATIONS ,Sang - Càncer - Tractament ,BİYOKİMYA VE MOLEKÜLER BİYOLOJİ ,INFECTION ,virosis::infecciones por virus ARN::infecciones por Nidovirales::infecciones por Coronaviridae::infecciones por Coronavirus [ENFERMEDADES] ,haematological malignancy onset ,Klinik Tıp (MED) ,03.02. Klinikai orvostan ,Klinik Tıp ,treatment ,Temel Bilimler ,COVID-19 ,outcome ,prognostic factors ,Life Sciences ,Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [DISEASES] ,Onkoloji ,Tıp ,MOLECULAR BIOLOGY & GENETICS ,Oncology ,Medicine ,ONKOLOJİ ,Natural Sciences ,BIOCHEMISTRY & MOLECULAR BIOLOGY ,Life Sciences & Biomedicine ,Sitogenetik ,Life Sciences (LIFE) ,Otros calificadores::Otros calificadores::/farmacoterapia [Otros calificadores] ,[SDV.CAN]Life Sciences [q-bio]/Cancer ,Molecular Biology and Genetics ,PANEL ,[SDV.CAN] Life Sciences [q-bio]/Cancer ,Yaşam Bilimleri ,Health Sciences ,Cytogenetic ,neoplasias::neoplasias por localización::neoplasias hematológicas [ENFERMEDADES] ,Moleküler Biyoloji ve Genetik ,ACUTE LYMPHOBLASTIC-LEUKEMIA ,Internal Medicine Sciences ,Science & Technology ,diagnóstico::pronóstico::resultado del tratamiento [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS] ,Dahili Tıp Bilimleri ,CLINICAL MEDICINE ,Neoplasms::Neoplasms by Site::Hematologic Neoplasms [DISEASES] ,Diagnosis::Prognosis::Treatment Outcome [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT] ,Settore MED/15 ,Settore MED/15 - MALATTIE DEL SANGUE ,Sang - Càncer - Diagnòstic ,Yaşam Bilimleri (LIFE) ,Avaluació de resultats (Assistència sanitària) ,COVID-19 (Malaltia) - Diagnòstic ,Kanser Araştırmaları - Abstract
Simple Summary Patients with simultaneous diagnosis of haematological malignancies (HM) and COVID-19 are an even greater challenge for hematologists. To better clarify their outcome, we describe the clinical features and outcome of a cohort of 450 patients with simultaneous diagnosis of HM and COVID-19 registered in the EPICOVIDEHA registry between March 2020 to February 2022. Overall, 343 (76.2%) patients received treatment for HM, and an overall response rate was observed in 140 (40.8%) patients after the first line of treatment. Thirty-day mortality was significantly higher in patients not receiving HM treatment (42.1%) than in those receiving treatment (27.4%, p = 0.004). Statistical analysis showed that, together with age, severe/critical COVID-19, >= 2 comorbidities, lack of HM treatment was an independent risk factors for mortality. These observations suggest the importance of HM treatment in these patients; therefore, it should be delivered as soon as possible for patients requiring immediate therapy. Background: The outcome of patients with simultaneous diagnosis of haematological malignancies (HM) and COVID-19 is unknown and there are no specific treatment guidelines. Methods: We describe the clinical features and outcome of a cohort of 450 patients with simultaneous diagnosis of HM and COVID-19 registered in the EPICOVIDEHA registry between March 2020 to February 2022. Results: Acute leukaemia and lymphoma were the most frequent HM (35.8% and 35.1%, respectively). Overall, 343 (76.2%) patients received treatment for HM, which was delayed for longer than one month since diagnosis in 57 (16.6%). An overall response rate was observed in 140 (40.8%) patients after the first line of treatment. After a median follow-up of 35 days, overall mortality was 177/450 (39.3%); 30-day mortality was significantly higher in patients not receiving HM treatment (42.1%) than in those receiving treatment (27.4%, p = 0.004), either before and/or after COVID-19, or compared to patients receiving HM treatment at least after COVID-19 (15.2%, p < 0.001). Age, severe/critical COVID-19, >= 2 comorbidities, and lack of HM treatment were independent risk factors for mortality, whereas a lymphocyte count >500/mcl at COVID-19 onset was protective. Conclusions: HM treatment should be delivered as soon as possible for patients with simultaneous diagnosis of COVID-19 and HM requiring immediate therapy.
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- 2022
33. B-cell malignancies treated with targeted drugs and SARS-CoV-2 infection
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Maria Stefania Infante, Jon Salmanton-García, Ana Fernández-Cruz, Francesco Marchesi, Ozren Jaksic, Barbora Weinbergerová, Caroline Besson, Rafael F. Duarte, Federico Itri, Toni Valković, Tomáš Szotkovski, Alessandro Busca, Anna Guidetti, Andreas Glenthøj, Graham P. Collins, Valentina Bonuomo, Uluhan Sili, Guldane Cengiz Seval, Marina Machado, Raul Cordoba, Ola Blennow, Ghaith Abu-Zeinah, Sylvain Lamure, Austin Kulasekararaj, Iker Falces-Romero, Chiara Cattaneo, Jaap Van Doesum, Klára Piukovics, Ali S. Omrani, Gabriele Magliano, Marie-Pierre Ledoux, Cristina de Ramon, Alba Cabirta, Luisa Verga, Alberto López-García, Maria Gomes Da Silva, Zlate Stojanoski, Stef Meers, Tobias Lahmer, Sonia Martín-Pérez, Julio Dávila-Vals, Jens Van Praet, Michail Samarkos, Yavuz M. Bilgin, Linda Katharina Karlsson, Josip Batinić, Anna Nordlander, Martin Schönlein, Martin Hoenigl, Zdeněk Ráčil, Miloš Mladenović, Michaela Hanakova, Giovanni Paolo Maria Zambrotta, Nick De Jonge, Tatjana Adžić-Vukičević, Raquel Nunes-Rodrigues, Lucia Prezioso, Milan Navrátil, Monia Marchetti, Annarosa Cuccaro, Maria Calbacho, Antonio Giordano, Oliver A. Cornely, José-Ángel Hernández-Rivas, Livio Pagano, Infante M. S. , Salmanton-García J., Fernández-Cruz A., Marchesi F., Jaksic O., Weinbergerová B., Besson C., Duarte R. F. , Itri F., Valković T., et al., Institut Català de la Salut, [Infante MS] Hematology Deparment, Hospital Universitario Infanta Leonor, Madrid, Spain. [Salmanton-García J] Faculty of Medicine and University Hospital Cologne, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany. Faculty of Medicine and University Hospital Cologne, Department I of Internal Medicine, Excellence Center for Medical Mycology (ECMM), University of Cologne, Cologne, Germany. [Fernández-Cruz A] Hospital Universitario Puerta de Hierro, Majadahonda, Spain. [Marchesi F] Hematology and Stem Cell Transplant Unit, IRCCS Regina Elena National Cancer Institute, Rome, Italy. [Jaksic O] Department of Hematology, University Hospital Dubrava, Zagreb, Croatia. [Weinbergerová B] Department of Internal Medicine, Hematology and Oncology, Masaryk University and University Hospital Brno, Brno, Czechia. [Cabirta A] Servei d’Hematologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Experimental Hematology, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus, Gilead Sciences, and Hematology
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Investigative Techniques::Epidemiologic Methods::Data Collection::Surveys and Questionnaires [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT] ,Internal Diseases ,Cancer Research ,SARS-CoV-2 ,chronic lymphocytic leukemia (CLL) ,immune system COVID19 ,infection risk ,lymphoproliferative diseases (LPD) ,non-Hodgkin lymphoma (NHL) ,targeted drugs ,Sağlık Bilimleri ,COVID-19 (Malaltia) ,İç Hastalıkları ,Clinical Medicine (MED) ,BİYOKİMYA VE MOLEKÜLER BİYOLOJİ ,virosis::infecciones por virus ARN::infecciones por Nidovirales::infecciones por Coronaviridae::infecciones por Coronavirus [ENFERMEDADES] ,Medicine and Health Sciences ,IDELALISIB ,Klinik Tıp (MED) ,03.02. Klinikai orvostan ,IBRUTINIB ,BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Interna medicina ,Hemic and Lymphatic Diseases::Lymphatic Diseases::Lymphoproliferative Disorders [DISEASES] ,RNA COVID-19 VACCINE ,BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Oncology ,Klinik Tıp ,OBINUTUZUMAB ,CHALLENGES ,Temel Bilimler ,Life Sciences ,Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [DISEASES] ,Onkoloji ,ddc ,Tıp ,MOLECULAR BIOLOGY & GENETICS ,Oncology ,CHLORAMBUCIL ,Medicine ,ONKOLOJİ ,Natural Sciences ,BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Infektologija ,Life Sciences & Biomedicine ,BIOCHEMISTRY & MOLECULAR BIOLOGY ,Sitogenetik ,Life Sciences (LIFE) ,Molecular Biology and Genetics ,Enquestes ,Yaşam Bilimleri ,Health Sciences ,Trastorns limfoproliferatius ,Cytogenetic ,RITUXIMAB ,BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Internal Medicine ,Moleküler Biyoloji ve Genetik ,Science & Technology ,Internal Medicine Sciences ,CHRONIC LYMPHOCYTIC-LEUKEMIA ,técnicas de investigación::métodos epidemiológicos::recopilación de datos::encuestas y cuestionarios [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS] ,Dahili Tıp Bilimleri ,CLINICAL MEDICINE ,BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Infectology ,enfermedades hematológicas y linfáticas::enfermedades linfáticas::trastornos linfoproliferativos [ENFERMEDADES] ,ONCOLOGY ,EFFICACY ,Settore MED/15 - MALATTIE DEL SANGUE ,Yaşam Bilimleri (LIFE) ,BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Onkologija ,Kanser Araştırmaları - Abstract
Patients with lymphoproliferative diseases (LPD) are vulnerable to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Here, we describe and analyze the outcome of 366 adult patients with chronic lymphocytic leukemia (CLL) or non-Hodgkin Lymphoma (NHL) treated with targeted drugs and laboratory-confirmed COVID-19 diagnosed between February 2020 and January 2022. Median follow-up was 70.5 days (IQR 0-609). Most used targeted drugs were Bruton-kinase inhibitors (BKIs) (N= 201, 55%), anti-CD20 other than rituximab (N=61, 16%), BCL2 inhibitors (N=33, 9%) and lenalidomide (N=28, 8%).Only 16.2% of the patients were vaccinated with 2 or more doses of vaccine at the onset of COVID-19. Mortality was 24% (89/366) on day 30 and 36%(134/366) on the last day of follow-up. Age >75 years (p, EPICOVIDEHA has received funds from Optics COMMITTM (COVID-19 Unmet Medical Needs and Associated Research Extension) COVID-19 RFP program by GILEAD Science, United States (Project 2020-8223).
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- 2022
34. Cytotoxic Constituents from Lobaria scrobiculata and a Comparison of Two Bioassays for Their Evaluation
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Guido F. Pauli, Brigitte Kopp, Yuehong Wang, Scott G. Franzblau, Nadine Kretschmer, Rudolf Bauer, Aman Kaur, Georg Krupitza, Gabriela Páchniková, Iva Slaninová, Ernst Urban, Martin Zehl, Andreas Schinkovitz, Substances d'Origine Naturelle et Analogues Structuraux (SONAS), Université d'Angers (UA), University of Vienna [Vienna], Masaryk University and University Hospital Brno, University Hospital Brno, University of Illinois at Chicago, University of Illinois [Springfield], Karl-Franzens-Universität [Graz, Autriche], and University of Graz
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Lichens ,[SDV]Life Sciences [q-bio] ,Pharmaceutical Science ,HL-60 Cells ,Fractionation ,Biology ,01 natural sciences ,Lobaria scrobiculata ,Analytical Chemistry ,chemistry.chemical_compound ,Phenols ,Drug Discovery ,Botany ,Humans ,Cytotoxic T cell ,Bioassay ,Usnea longissima ,Cytotoxicity ,Nuclear Magnetic Resonance, Biomolecular ,Benzofurans ,Pharmacology ,Potential impact ,Molecular Structure ,010405 organic chemistry ,Organic Chemistry ,Trypan Blue ,biology.organism_classification ,Antineoplastic Agents, Phytogenic ,Anti-Bacterial Agents ,0104 chemical sciences ,010404 medicinal & biomolecular chemistry ,Complementary and alternative medicine ,chemistry ,Biochemistry ,Molecular Medicine ,Trypan blue ,France ,Drug Screening Assays, Antitumor - Abstract
International audience; Lichens are resilient organisms, known for their unique profiles of secondary metabolites and for exhibiting antioxidative, antibacterial, and cytotoxic effects. Analyzing the cytotoxic potential ofLobaria scrobiculata, a bioassay-guided fractionation strategy yielded seven known metabolites, with two of these compounds,2and3, exhibiting cytotoxicity against HL-60 cells. In order to verify the potential impact of degradation on observed bioactivity, a purity and stability evaluation was conducted. The consistency of results obtained by the water-soluble tetrazolium salt-1 assay and trypan blue cytotoxicity assay was evaluated for selected compounds.
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- 2014
35. Cytotoxic Metabolites from Lobaria scrobiculata
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Schinkovitz, Andreas, Kaur, Amandeep, Urban, Ernst, Zehl, Martin, Páchniková, Gabriela, Wang, Yuehong, Kretschmer, Nadine, Slaninová, Iva, Pauli, Guido, Franzblau, Scott, Krupitza, Georg, Bauer, Rudolf, Kopp, Brigitte, Substances d'Origine Naturelle et Analogues Structuraux (SONAS), Université d'Angers (UA), University of Vienna [Vienna], Masaryk University and University Hospital Brno, University Hospital Brno, University of Illinois at Chicago, University of Illinois [Springfield], University of Graz, and Karl-Franzens-Universität [Graz, Autriche]
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[SDV]Life Sciences [q-bio] - Published
- 2014
36. Persistent splenomegaly during imatinib therapy and the definition of complete hematological response in chronic myelogenous leukemia
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Jiri Mayer, Hana Klamova, Jaroslava Voglová, Filip Rázga, Zdenek Racil, Petr Cetkovsky, Edgar Faber, Lucie Burešová, Daniela Zackova, Dept. of Internal Medicine Hemato-Oncology, University Hospital Brno, Institute of Hematology and Blood Transfusion, University Hospital Hradec Kralove, University Hospital Olomouc, University Hospital Olomouc [Czech Republic], Masaryk University and University Hospital Brno, and Masaryk University [Brno] (MUNI)
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Adult ,Male ,medicine.medical_specialty ,medicine.drug_class ,Physical examination ,Gastroenterology ,Piperazines ,Tyrosine-kinase inhibitor ,03 medical and health sciences ,0302 clinical medicine ,Leukemia, Myelogenous, Chronic, BCR-ABL Positive ,hemic and lymphatic diseases ,Internal medicine ,medicine ,Humans ,Prospective Studies ,Treatment Failure ,Protein Kinase Inhibitors ,030304 developmental biology ,0303 health sciences ,Hematology ,medicine.diagnostic_test ,business.industry ,Remission Induction ,Cancer ,Imatinib ,Middle Aged ,medicine.disease ,3. Good health ,Pyrimidines ,030220 oncology & carcinogenesis ,Benzamides ,Practice Guidelines as Topic ,Splenomegaly ,Immunology ,Imatinib Mesylate ,Medicine ,Female ,Splenic disease ,business ,Tyrosine kinase ,Chronic myelogenous leukemia ,medicine.drug - Abstract
International audience; Splenomegaly belongs among typical findings on physical examination in patients with newly diagnosed chronic myelogenous leukemia (CML) (1). Its disappearance is a part of achieving complete hematological response (CHR), that is nowadays (when second generation of tyrosine kinase inhibitors are available) of particular interest during imatinib treatment. However, the kinetics of the disappearance of splenomegaly in patients with CML has still never been studied. We have analyzed 20 out of 245 patients with newly diagnosed chronic phase CML that had a still palpable spleen at the 3rd month of imatinib therapy in terms of treatment response at 18 months from the start of therapy. Our analysis have showed that eight (40%) of these 20 patients had achieved a treatment response at these time points. Moreover 11 patients had still a palpable splenomegaly at the 6th month after the start of imatinib therapy and 6 (54%) of them had a therapeutic response at the 18th month, suggesting that slower spleen shrinkage in patients with newly diagnosed chronic phase CML does not necessarily mean the failure of the therapy in the future.
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- 2010
37. Biomarker counseling, disclosure of diagnosis and follow‐up in patients with mild cognitive impairment: A European Alzheimer's disease consortium survey
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Mathieu Ceccaldi, Timo Grimmer, Vesna Jelic, Luiza Spiru, Pierre Jean Ousset, Stephanie Sloan, Marcel G. M. Olde Rikkert, Isabel Santana, Sebastiaan Engelborghs, Bruno Dubois, Milica G. Kramberger, David Robinson, Lucrezia Hausner, Latchezar Traykov, Mercè Boada, Robert Perneczky, Gunhild Waldemar, Alberto Lleó, Elisabet Sánchez, Thomas R. Nielsen, Tomasz Gabryelewicz, Olivier Rouaud, Nikolaos Scarmeas, Alexandre de Mendonça, Jacques Hugon, Kristian Steen Frederiksen, Bernard Hanseeuw, Lutz Frölich, Flavio Nobili, Görsev Yener, Mario Riverol, Ildebrando Appollonio, Audrey Gabelle, Birgitte Bo Andersen, Elka Stefanova, Katerina Sheardova, Jakub Hort, Anne M Koivisto, Thibaud Lebouvier, Clinical sciences, Neuroprotection & Neuromodulation, Neurology, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Frederiksen, K, Nielsen, T, Appollonio, I, Andersen, B, Riverol, M, Boada, M, Ceccaldi, M, Dubois, B, Engelborghs, S, Frolich, L, Hausner, L, Gabelle, A, Gabryelewicz, T, Grimmer, T, Hanseeuw, B, Hort, J, Hugon, J, Jelic, V, Koivisto, A, Kramberger, M, Lebouvier, T, Lleo, A, de Mendonca, A, Nobili, F, Ousset, P, Perneczky, R, Olde Rikkert, M, Robinson, D, Rouaud, O, Sanchez, E, Santana, I, Scarmeas, N, Sheardova, K, Sloan, S, Spiru, L, Stefanova, E, Traykov, L, Yener, G, Waldemar, G, University of Copenhagen = Københavns Universitet (UCPH), Università degli Studi di Milano-Bicocca = University of Milano-Bicocca (UNIMIB), Universidad Pública de Navarra [Espagne] = Public University of Navarra (UPNA), Universitat Internacional de Catalunya [Barcelona] (UIC), Instituto de Salud Carlos III [Madrid] (ISC), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Antwerp (UA), Vrije Universiteit Brussel (VUB), Heidelberg University, Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Mossakowski Medical Research Centre (CMDIK), Polska Akademia Nauk = Polish Academy of Sciences (PAN), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Université Catholique de Louvain = Catholic University of Louvain (UCL), University Hospital Motol [Prague], Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Cité (UPCité), Karolinska University Hospital [Stockholm], University of Eastern Finland, Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University of Ljubljana, Université de Lille, Hospital de la Santa Creu i Sant Pau, Universidade de Lisboa = University of Lisbon (ULISBOA), Università degli studi di Genova = University of Genoa (UniGe), IRCCS Ospedale Policlinico San Martino [Genoa, Italy], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Ludwig-Maximilians University [Munich] (LMU), German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Munich Cluster for systems neurology [Munich] (SyNergy), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Ludwig-Maximilians-Universität München (LMU), Imperial College London, Radboud University Medical Center [Nijmegen], St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Hospital Universitario Ramón y Cajal [Madrid], Universidad de Alcalá - University of Alcalá (UAH), University of Coimbra [Portugal] (UC), National and Kapodistrian University of Athens (NKUA), Columbia University Irving Medical Center (CUIMC), St. Anne’s University Hospital [Brno], Ninewells Hospital and Medical School [Dundee], University of Medicine and Pharmacy 'Carol Davila' Bucharest (UMPCD), University of Belgrade [Belgrade], and Dokuz Eylül Üniversitesi = Dokuz Eylül University [Izmir] (DEÜ)
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Counseling ,Advance care planning ,Alzheimer`s disease Donders Center for Medical Neuroscience [Radboudumc 1] ,diagnosis ,Disease ,0302 clinical medicine ,Medicine ,030212 general & internal medicine ,survey experiment ,Cognitive decline ,Cognitive impairment ,Response rate (survey) ,diagnosis [Alzheimer Disease] ,Alzheimer's disease ,3. Good health ,Europe ,diagnosi ,Psychiatry and Mental health ,Disease Progression ,biomarker ,Biomarker (medicine) ,biomarker counseling ,biomarkers ,dementia ,diagnostic disclosure ,mild cognitive impairment ,survey ,medicine.medical_specialty ,Referral ,Neuroscience(all) ,Clinical Neurology ,Disclosure ,Sensitivity and Specificity ,03 medical and health sciences ,Alzheimer Disease ,Humans ,Dementia ,Cognitive Dysfunction ,ddc:610 ,MED/26 - NEUROLOGIA ,business.industry ,[SCCO.NEUR]Cognitive science/Neuroscience ,medicine.disease ,diagnosis [Cognitive Dysfunction] ,Family medicine ,Human medicine ,Geriatrics and Gerontology ,business ,Biomarkers ,030217 neurology & neurosurgery ,Follow-Up Studies - Abstract
Contains fulltext : 231797.pdf (Publisher’s version ) (Closed access) OBJECTIVES: Mild cognitive impairment (MCI) is associated with an increased risk of further cognitive decline, partly depending on demographics and biomarker status. The aim of the present study was to survey the clinical practices of physicians in terms of biomarker counseling, management, and follow-up in European expert centers diagnosing patients with MCI. METHODS: An online email survey was distributed to physicians affiliated with European Alzheimer's disease Consortium centers (Northern Europe: 10 centers; Eastern and Central Europe: 9 centers; and Southern Europe: 15 centers) with questions on attitudes toward biomarkers and biomarker counseling in MCI and dementia. This included postbiomarker counseling and the process of diagnostic disclosure of MCI, as well as treatment and follow-up in MCI. RESULTS: The response rate for the survey was 80.9% (34 of 42 centers) across 20 countries. A large majority of physicians had access to biomarkers and found them useful. Pre- and postbiomarker counseling varied across centers, as did practices for referral to support groups and advice on preventive strategies. Less than half reported discussing driving and advance care planning with patients with MCI. CONCLUSIONS: The variability in clinical practices across centers calls for better biomarker counseling and better training to improve communication skills. Future initiatives should address the importance of communicating preventive strategies and advance planning.
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- 2020
38. Decoding the intricate network of molecular interactions of a hyperstable engineered biocatalyst
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K. Markova, Philippe Carpentier, Sérgio M. Marques, David Bednar, Jiri Damborsky, Martin Marek, Klaudia Chmelova, Loschmidt Laboratories, Department of Experimental Biology, Faculty of Science, Masaryk University [Brno] (MUNI), Research Centre for Toxic Compounds in the Environment [Brno] (RECETOX / MUNI), Faculty of Science [Brno] (SCI / MUNI), Masaryk University [Brno] (MUNI)-Masaryk University [Brno] (MUNI), International Clinical Research Center ICRC, St. Anne's University Hospital Brno, Brno 602 00, Czech Republic, Biocatalyse (BIOCAT), Laboratoire de Chimie et Biologie des Métaux (LCBM - UMR 5249), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA), and European Synchrotron Radiation Facility (ESRF)
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0303 health sciences ,Molecular interactions ,[SDV.BIO]Life Sciences [q-bio]/Biotechnology ,010304 chemical physics ,biology ,Small-angle scattering ,Candida antarctica lipase B ,Active site ,General Chemistry ,[CHIM.CATA]Chemical Sciences/Catalysis ,01 natural sciences ,Combinatorial chemistry ,03 medical and health sciences ,Molecular dynamics ,chemistry.chemical_compound ,Chemistry ,chemistry ,Biocatalysis ,0103 physical sciences ,biology.protein ,Aromatic amino acids ,[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM] ,Decoding methods ,030304 developmental biology ,Haloalkane dehalogenase ,Thermostability - Abstract
Computational design of protein catalysts with enhanced stabilities for use in research and enzyme technologies is a challenging task. Using force-field calculations and phylogenetic analysis, we previously designed the haloalkane dehalogenase DhaA115 which contains 11 mutations that confer upon it outstanding thermostability (Tm = 73.5 °C; ΔTm > 23 °C). An understanding of the structural basis of this hyperstabilization is required in order to develop computer algorithms and predictive tools. Here, we report X-ray structures of DhaA115 at 1.55 Å and 1.6 Å resolutions and their molecular dynamics trajectories, which unravel the intricate network of interactions that reinforce the αβα-sandwich architecture. Unexpectedly, mutations toward bulky aromatic amino acids at the protein surface triggered long-distance (∼27 Å) backbone changes due to cooperative effects. These cooperative interactions produced an unprecedented double-lock system that: (i) induced backbone changes, (ii) closed the molecular gates to the active site, (iii) reduced the volumes of the main and slot access tunnels, and (iv) occluded the active site. Despite these spatial restrictions, experimental tracing of the access tunnels using krypton derivative crystals demonstrates that transport of ligands is still effective. Our findings highlight key thermostabilization effects and provide a structural basis for designing new thermostable protein catalysts., Illustration of cooperative thermostabilization effects of the double-lock system that: (i) induced backbone changes, (ii) closed the molecular gates, (iii) reduced the volumes of the main and slot access tunnels, and (iv) occluded the active site.
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- 2020
39. Long-Term Ticagrelor in Patients With Prior Coronary Stenting in the PEGASUS-TIMI 54 Trial
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KyungAh Im, Robert F. Storey, Marc P. Bonaca, Christian W. Hamm, Andrzej Budaj, Brian A. Bergmark, Róbert Gábor Kiss, Per Johanson, Julia F Kuder, Frans Van de Werf, Jindřich Špinar, Deepak L. Bhatt, Giulia Magnani, Eugene Braunwald, Ton Oude Ophuis, Marc S. Sabatine, Gilles Montalescot, Yared Gurmu, P. Gabriel Steg, Harvard Medical School [Boston] (HMS), Laboratoire de Recherche Vasculaire Translationnelle (LVTS (UMR_S_1148 / U1148)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Université Sorbonne Paris Nord, National Heart and Lung Institute [London] (NHLI), Imperial College London-Royal Brompton and Harefield NHS Foundation Trust, Medical Center of Postgraduate Education [Warsaw] (MCPE), University of Sheffield [Sheffield], University Hospital of Parma [Parme, Italie], Canisius-Wilhelmina Hospital [Nijmegen, The Netherlands], Universität Giessen [Germany], St. Anne’s University Hospital [Brno], University Hospitals Leuven [Leuven], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), AstraZeneca, and University of Colorado Anschutz [Aurora]
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Ticagrelor ,Cardiac & Cardiovascular Systems ,medicine.medical_treatment ,Myocardial Infarction ,Coronary Artery Disease ,SECONDARY PREVENTION ,030204 cardiovascular system & hematology ,antiplatelet therapy ,PRIOR MYOCARDIAL-INFARCTION ,0302 clinical medicine ,Clinical Studies ,Secondary Prevention ,Stent ,Coronary Heart Disease ,030212 general & internal medicine ,Stent thrombosis ,Original Research ,DUAL ANTIPLATELET THERAPY ,Coronary stenting ,Drug-Eluting Stents ,PCI ,3. Good health ,Stroke ,Treatment Outcome ,CLOPIDOGREL ,Cardiology ,Drug Therapy, Combination ,Stents ,Cardiology and Cardiovascular Medicine ,Life Sciences & Biomedicine ,TIMI ,medicine.drug ,Acute coronary syndrome ,medicine.medical_specialty ,Hemorrhage ,P2Y12 inhibitor ,acute coronary syndrome ,03 medical and health sciences ,ATHEROTHROMBOTIC RISK STRATIFICATION ,Percutaneous Coronary Intervention ,INFLAMMATION ,[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system ,Internal medicine ,Coronary stent ,medicine ,Diseases of the circulatory (Cardiovascular) system ,Humans ,In patient ,cardiovascular diseases ,P2Y(12) inhibitor ,Pharmacology ,Science & Technology ,business.industry ,RIVAROXABAN ,Thrombosis ,medicine.disease ,equipment and supplies ,ASPIRIN ,ATHEROSCLEROSIS ,RC666-701 ,Conventional PCI ,Cardiovascular System & Cardiology ,VORAPAXAR ,business ,Platelet Aggregation Inhibitors - Abstract
Background Coronary stent type and risk of stent thrombosis remain important factors affecting recommended duration of dual antiplatelet therapy. We investigated the efficacy and safety of long‐term ticagrelor in patients with prior coronary stenting enrolled in the PEGASUS‐TIMI 54 (Prevention of Cardiovascular Events in Patients with Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin–Thrombolysis in Myocardial Infarction 54) trial. Methods and Results Patients in PEGASUS‐TIMI 54 had a myocardial infarction 1 to 3 year prior and were randomized 1:1:1 to ticagrelor 60 or 90 mg BID or placebo. The primary end point was a composite of cardiovascular death, myocardial infarction, or stroke (major adverse cardiovascular events). Stent thrombosis was prospectively adjudicated (Academic Research Consortium definition). Baseline characteristics were compared by most recent stent type (bare metal versus drug‐eluting stent and first‐ versus later‐generation drug‐eluting stent). Treatment arms were compared using Cox proportional hazards models. Of 21 162 patients randomized, 80% (n=16 891) had prior coronary stenting. Following randomization, myocardial infarction was the most frequent ischemic event in patients with prior stenting in the placebo arm, occurring in 5.2% of patients (Type 1: 4.1%), followed by cardiovascular death (2.3%), stroke (1.7%), and stent thrombosis (0.9%). Ticagrelor pooled reduced major adverse cardiovascular events (7.0% versus 8.0%; hazard ratio [HR], 0.85; 95% CI, 0.75–96) regardless of stent type (bare metal stent versus drug‐eluting stent: p interaction =0.767; first versus later generation: p interaction =0.940). The rate of any stent thrombosis was numerically lower with ticagrelor pooled (0.7% versus 0.9%; HR, 0.73; 95% CI, 0.50–1.05) and Thrombolysis in Myocardial Infarction major bleeding was increased (HR, 2.65; 95% CI, 1.90–3.68). Conclusions Long‐term ticagrelor reduces major adverse cardiovascular events in patients with prior myocardial infarction and coronary stenting regardless of stent type, with the benefit driven predominantly by reduction in de novo events. Nonfatal major bleeding is increased with ticagrelor. Registration Information clinicaltrials.gov. Identifier: NCT01225562.
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- 2021
40. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
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Ivana Dabaj, Corinne Metay, Tanya Stojkovic, Nicolas Leboucq, Susana Quijano-Roy, Jana Haberlová, François Rivier, John Rendu, Giorgio Tasca, David Gómez-Andrés, Audrey Benezit, Ximena Ortega, Fabiana Fattori, Helge Amthor, Edoardo Malfatti, Jana Zídková, Angel Sanchez-Montanez, Norma B. Romero, John Vissing, Clara Gontijo Camelo, Claudia Castiglioni, Marta Gómez García de la Banda, Laura Costa Comellas, Robert Carlier, Pascal Laforêt, Nicoline Løkken, Francina Munell, Christophe Béroud, Martin Kyncl, Eliana Cavassa, AP-HP. Université Paris Saclay, Hôpital Raymond Poincaré [AP-HP], Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), University Hospital Motol [Prague], University of Copenhagen = Københavns Universitet (UCPH), Vall d'Hebron University Hospital [Barcelona], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), CHU Henri Mondor [Créteil], Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), Cancer and Brain Genomics (CBG), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Dynamique et Structure du Cytosquelette Neuronal, [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Université Grenoble Alpes (UGA), Centre Hospitalier Universitaire [Grenoble] (CHU), Sorbonne Université (SU), Bambino Gesù Children’s Hospital [Rome, Italy], Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), University Hospital Brno, CHU Montpellier, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service d'Imagerie Médicale [Raymond-Poincaré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré [AP-HP], We thank ISCIII for the fnancial support for studying LAMA2-RD in Spain., CHU Henri Mondor, Unité clinique de pathologie neuromusculaire [CHU Pitié-Salpêtrière], Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Génétique Moléculaire [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), MORNET, Dominique, Clinica Las Condes, University of Copenhagen = Københavns Universitet (KU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Fondazione 'Policlinico Universitario A. Gemelli' [Rome], Faculdade de Medicina da Universidade de São Paulo [São Paulo, Brésil], Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de recherche en myologie, and Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
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Adult ,medicine.medical_specialty ,Congenital muscular dystrophy ,Myopathy ,[SDV]Life Sciences [q-bio] ,Muscle MRI ,Biceps ,Muscular Dystrophies ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,medicine ,Humans ,Whole Body Imaging ,Heatmap ,Muscular dystrophy ,Muscle, Skeletal ,ComputingMilieux_MISCELLANEOUS ,0303 health sciences ,Muscle biopsy ,biology ,medicine.diagnostic_test ,business.industry ,Gluteus minimus ,030305 genetics & heredity ,Posterior compartment of thigh ,medicine.disease ,biology.organism_classification ,Magnetic Resonance Imaging ,[SDV] Life Sciences [q-bio] ,Medius ,Neurology ,Neurology (clinical) ,Laminin ,medicine.symptom ,Merosin ,business ,030217 neurology & neurosurgery - Abstract
Background: LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). Diagnosis is straightforward in the classic congenital presentation with no ambulation and complete merosin deficiency in muscle biopsy, but is far more difficult in milder ambulant individuals with partial merosin deficiency. Objective: To investigate the diagnostic utility of muscle imaging in LAMA2-RD using whole-body magnetic resonance imaging (WBMRI). Results: 27 patients (2–62 years, 21–80% with acquisition of walking ability and 6 never ambulant) were included in an international collaborative study. All carried two pathogenic mutations, mostly private missense changes. An intronic variant (c.909 + 7A > G) was identified in all the Chilean cases. Three patients (two ambulant) showed intellectual disability, epilepsy, and brain structural abnormalities. WBMRI T1w sequences or T2 fat-saturated images (Dixon) revealed abnormal muscle fat replacement predominantly in subscapularis, lumbar paraspinals, gluteus minimus and medius, posterior thigh (adductor magnus, biceps femoris, hamstrings) and soleus. This involvement pattern was consistent for both ambulant and non-ambulant patients. The degree of replacement was predominantly correlated to the disease duration, rather than to the onset or the clinical severity. A “COL6-like sandwich sign” was observed in several muscles in ambulant adults, but different involvement of subscapularis, gluteus minimus, and medius changes allowed distinguishing LAMA2-RD from collagenopathies. The thigh muscles seem to be the best ones to assess disease progression. Conclusion: WBMRI in LAMA2-RD shows a homogeneous pattern of brain and muscle imaging, representing a supportive diagnostic tool.
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- 2021
41. Interlaboratory evaluation of Mucorales PCR assays for testing serum specimens: A study by the fungal PCR Initiative and the Modimucor study group
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Rocchi, S, Scherer, E, Mengoli, C, Alanio, A, Botterel, F, Bougnoux, M, Bretagne, S, Cogliati, M, Cornu, M, Dalle, Frédéric, Damiani, Céline, Denis, J, Fuchs, S, Gits-Muselli, M, Hagen, F, Halliday, C, Hare, R, Iriart, Xavier, Klaassen, C, Lackner, M, Lengerova, M, Letscher-Bru, V, Morio, F, Nourrisson, C, Posch, W, Sendid, B, Springer, J, Willinger, B, White, P, Barnes, R, Cruciani, M, Donnelly, J, Loeffler, J, Millon, L, Service de parasitologie et mycologie [CHRU de Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Laboratoire Chrono-environnement (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Università degli Studi di Padova = University of Padua (Unipd), Centre National de Référence Mycoses Invasives et Antifongiques - National Reference Center Invasive Mycoses & Antifungals (CNRMA), Institut Pasteur [Paris] (IP), Mycologie moléculaire - Molecular Mycology, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Hôpitaux Universitaire Saint-Louis, Lariboisière, Fernand-Widal, Université Paris Cité (UPCité), Université Paris-Est Créteil Val-de-Marne - Faculté de médecine (UPEC Médecine), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), École nationale vétérinaire - Alfort (ENVA), CHU Henri Mondor [Créteil], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Biologie et Pathogénicité fongiques (BPF), Institut National de la Recherche Agronomique (INRA)-Institut Pasteur [Paris] (IP), Università degli Studi di Milano = University of Milan (UNIMI), Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Laboratoire de parasitologie mycologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Vin Aliment Microbiologie et Stress (VAlMiS), Procédés Alimentaires et Microbiologiques (PAM), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Procédés Alimentaires et Microbiologiques [Dijon] (PAM), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université Bourgogne Franche-Comté [COMUE] (UBFC)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université Bourgogne Franche-Comté [COMUE] (UBFC), Laboratoire de parasitologie et de mycologie médicales [CHU Amiens], CHU Amiens-Picardie, Agents infectieux, résistance et chimiothérapie - UR UPJV 4294 (AGIR ), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie, Laboratoire de Parasitologie et de Mycologie Médicale [Strasbourg], Les Hôpitaux Universitaires de Strasbourg (HUS), Leopold Franzens Universität Innsbruck - University of Innsbruck, UFR Médecine [Santé] - Université Paris Cité (UFR Médecine UPCité), Univ Utrecht, Westerdijk Fungal Biodivers Inst, Fungal Physiol, Uppsalalaan 8, NL-3584 CT Utrecht, Netherlands, Partenaires INRAE, University Medical Center [Utrecht], Shanghai Key Laboratory of Molecular Medical Mycology, Changzheng Hospital, Second Military Medical University, Statens Serum Institut [Copenhagen], Service de Parasitologie et Mycologie [CHU Toulouse], Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre de Physiopathologie Toulouse Purpan (CPTP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Erasmus University Medical Center [Rotterdam] (Erasmus MC), Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), University Hospital Brno, CHU Strasbourg, Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Clermont-Ferrand, University Hospital Wuerzburg / Universitätsklinikum Würzburg, Medizinische Universität Wien = Medical University of Vienna, Public Health Wales [Cardiff, Royaume uni], University of Texas Health Science Center at San Antonio [San Antonio, Tx, USA], This work was supported by a grant from the French Ministry of Health PHRC (Projet Hospitalier de Recherche Clinique) national-ModiMucor 2014-A00580-47., Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Génomique évolutive, modélisation et santé (CNRS-UMR2000), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Université Paris Cité - UFR Médecine [Santé] (UPCité UFR Médecine), CHU Henri Mondor, Biologie des ARN des Pathogènes fongiques - RNA Biology of Fungal Pathogens, Institut Pasteur [Paris]-Université Paris Cité (UPCité), University of Innsbruck, Service de Parasitologie et Mycologie, CHU Toulouse [Toulouse]-Institut Fédératif de Biologie (IFB) - Hôpital Purpan, Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Biologie et Pathogénicité fongiques - Fungal Biology and Pathogenicity (BPF), Institut Pasteur [Paris]-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), University of Padova Medical School, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPC), Université Paris Cité - UFR Médecine Paris Centre [Santé] (UPC Médecine Paris Centre), Université Paris Cité (UPC), Institut Pasteur [Paris]-Université Paris Cité (UPC), and Università degli Studi di Milano [Milano] (UNIMI)
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standardization ,MESH: Clinical Laboratory Techniques / instrumentation ,MESH: Humans ,MESH: Mucorales / genetics ,Mucorales PCR ,[SDV.BC]Life Sciences [q-bio]/Cellular Biology ,circulating DNA ,MESH: Molecular Diagnostic Techniques / standards ,MESH: Observer Variation ,MESH: Mucormycosis / blood ,MESH: Reproducibility of Results ,MESH: France ,interlaboratory assay ,MESH: Real-Time Polymerase Chain Reaction / standards ,MESH: Hospitals, University / statistics & numerical data ,MESH: Clinical Laboratory Techniques / standards ,MESH: DNA, Fungal / genetics ,MESH: Clinical Laboratory Techniques / methods ,MESH: Mucormycosis / diagnosis ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
International audience; Interlaboratory evaluations of Mucorales qPCR assays were developed to assess the reproducibility and performance of methods currently used. The participants comprised 12 laboratories from French university hospitals (nine of them participating in the Modimucor study) and 11 laboratories participating in the Fungal PCR Initiative. For panel 1, three sera were each spiked with DNA from three different species (Rhizomucor pusillus, Lichtheimia corymbifera, Rhizopus oryzae). For panel 2, six sera with three concentrations of R. pusillus and L. corymbifera (1, 10, and 100 genomes/ml) were prepared. Each panel included a blind negative-control serum. A form was distributed with each panel to collect results and required technical information, including DNA extraction method, sample volume used, DNA elution volume, qPCR method, qPCR template input volume, qPCR total reaction volume, qPCR platform, and qPCR reagents used. For panel 1, assessing 18 different protocols, qualitative results (positive or negative) were correct in 97% of cases (70/72). A very low interlaboratory variability in Cq values (SD = 1.89 cycles) were observed. For panel 2 assessing 26 different protocols, the detection rates were high (77-100%) for 5/6 of spiked serum. There was a significant association between the qPCR platform and performance. However, certain technical steps and optimal combinations of factors may also impact performance. The good reproducibility and performance demonstrated in this study support the use of Mucorales qPCR as part of the diagnostic strategy for mucormycosis.
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- 2021
42. Incidence and severity of pertussis hospitalisations in infants aged less than 1 year in 37 hospitals of six EU/EEA countries, results of PERTINENT sentinel pilot surveillance system, December 2015 to December 2018
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Merdrignac, Lore, Aït El Belghiti, Fatima, Pandolfi, Elisabetta, Jané, Mireia, Murphy, Jane, Fabiánová, Kateřina, García Cenoz, Manuel, Flem, Elmira, Guillot, Sophie, Tozzi, Alberto E, Carmona, Gloria, Habington, Adele, Zavadilová, Jana, Navasués, Ana, Bøås, Håkon, Lévy-Brühl, Daniel, Ferretti, Beatrice, Lanaspa, Miguel, O’Sullivan, Niam, Křížová, Pavla, Fernandino, Leticia, Bekkevold, Terese, Hanslik, Thomas, Muñoz-Almagro, Carmen, Bacci, Sabrina, Spiteri, Gianfranco, Valenciano, Marta, Moren, Alain, Savulescu, Camelia, Blechová, Zuzana, Bláhová, Květa, Kosina, Pavel, Sýkora, Josef, Holčíková, Alena, Širůček, Petr, Grembombo, Adèle, Brisse, Sylvain, Toubiana, Julie, Cotter, Suzanne, Cunney, Robert, O’Shaughnessy, Norma, O’Sullivan, Niamh, Rizzo, Caterina, Russo, Luisa, Campagna, Ilaria, Gesualdo, Francesco, Ciampini, Sara, Annarosa Ferro, Valentina, Boccuzzi, Elena, Vazquez Fernandez, Liliana, Esteva, Cristina, Lanaspa Perez, Miguel, Acosta, Lesly, Jordan Garcia, Yolanda, Navascués, Ana, Fernandino Zubieta, Leticia, Castilla, Jesús, EpiConcept [Paris], Direction des maladies infectieuses - Infectious Diseases Division [Saint-Maurice], Santé publique France - French National Public Health Agency [Saint-Maurice, France], IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Public Health Agency of Catalonia [Barcelona, Spain] (PHAC), Temple Street Children's University Hospital [Dublin], National Institute of Public Health [Prague], Instituto de Investigación Sanitaria de Navarra [Pamplona, Spain] (IdiSNA), Norwegian Institute of Public Health [Oslo] (NIPH), Biodiversité et Epidémiologie des Bactéries pathogènes - Biodiversity and Epidemiology of Bacterial Pathogens, Institut Pasteur [Paris] (IP), Our Lady's Children's Hospital Crumlin (OLCHC), Complejo Hospitalario de Navarra, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu [Barcelona, Spain], Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Universitat Internacional de Catalunya, CIBER de Epidemiología y Salud Pública (CIBERESP), European Centre for Disease Prevention and Control [Stockholm, Sweden] (ECDC), The European Centre for Disease Prevention and Control (ECDC) funded the PERTINENT study (Framework contract n° ECDC/2015/017)., PERTINENT group : Epiconcept, France: Lore Merdrignac, Epiconcept, Camelia Savulescu, Epiconcept, Marta Valenciano, Epiconcept, Alain Moren, Epiconcept. Czech Republic: Pavla Křížová, National Institute of Public Health, Prague, Kateřina Fabiánová, National Institute of Public Health, Prague, Jana Zavadilová, National Institute of Public Health, Prague, Zuzana Blechová, University Hospital Na Bulovce, Prague, Květa Bláhová, University Hospital Motol, Prague, Pavel Kosina, University Hospital, Hradec Králové, Josef Sýkora, University Hospital, Pilsen, Alena Holčíková, University Hospital, Brno, Petr Širůček, University Hospital, Ostrava. France: Daniel Lévy-Brühl, Santé Publique France, Saint-Maurice, Fatima Aït El Belghiti, Santé Publique France, Saint-Maurice, Adèle Grembombo, Santé Publique France, Saint-Maurice, Sophie Guillot, Institut Pasteur, Paris, Sylvain Brisse, Institut Pasteur, Paris, Julie Toubiana, Institut Pasteur, Paris. Ireland: Suzanne Cotter, HSE-Health Protection Surveillance Centre, Dublin, Jane Murphy, Temple Street Children’s University Hospital, Dublin, Robert Cunney, Temple Street Children’s University Hospital, Dublin, Norma O’Shaughnessy, Temple Street Children’s University Hospital, Dublin, Adele Habington, Our Lady’s Children’s hospital Crumlin, Dublin, Niamh O’Sullivan, Our Lady’s Children’s hospital Crumlin, Dublin. Italy: Elisabetta Pandolfi, Bambino Gesù Children Hospital, Rome, Alberto E Tozzi, Bambino Gesù Children Hospital, Rome, Caterina Rizzo, Bambino Gesù Children Hospital, Rome, Luisa Russo, Bambino Gesù Children Hospital, Rome, Ilaria Campagna, Bambino Gesù Children Hospital, Rome, Francesco Gesualdo, Bambino Gesù Children Hospital, Rome, Sara Ciampini, Bambino Gesù Children Hospital, Rome, Valentina Annarosa Ferro, Bambino Gesù Children Hospital, Rome, Elena Boccuzzi, Bambino Gesù Children Hospital, Rome. Norway: Elmira Flem, Norwegian Institute of Public Health, Oslo, Håkon Bøås, Norwegian Institute of Public Health, Oslo, Terese Bekkevold, Norwegian Institute of Public Health, Oslo, Liliana Vazquez Fernandez, Norwegian Institute of Public Health, Oslo. Catalonia, Spain: Carmen Muñoz-Almagro, Instituto de Recerca Pediatrica Hospital Sant Joan de Deu, Barcelona, Universitat Internacional de Catalunya and CIBER of Epidemiology and Public Health CIBERESP, Cristina Esteva, Instituto de Recerca Pediatrica Hospital Sant Joan de Deu, Barcelona, CIBER of Epidemiology and Public Health CIBERESP, Miguel Lanaspa Perez, Instituto de Recerca Pediatrica Hospital Sant Joan de Deu, Barcelona, Mireia Jané, Public Health Agency of Catalonia, Barcelona, University of Barcelona, Gloria Carmona, Public Health Agency of Catalonia, Barcelona, Lesly Acosta, Universitat Politècnica de Catalunya - BarcelonaTech (UPC), Public Health Agency of Catalonia, Barcelona, Yolanda Jordan Garcia, Instituto de Recerca Pediatrica Hospital Sant Joan de Deu, Barcelona, CIBER of Epidemiology and Public Health CIBERESP. Navarra, Spain: Manuel García Cenoz, Instituto de Salud Pública de Navarra, IdiSNA – Navarre Institute for Health Research, Pamplona, Ana Navascués, Complejo Hospitalario de Navarra, Pamplona, Leticia Fernandino Zubieta, Instituto de Salud Pública de Navarra, IdiSNA – Navarre Institute for Health Research, Pamplona, Jesús Castilla, Instituto de Salud Pública de Navarra, IdiSNA - Navarre Institute for Health Research, Pamplona. Sentinelles, France: Thomas Hanslik, Sorbonne Université, INSERM, Institut Pierre Louis d’Epidémiologie et de Santé Publique (IPLESP UMRS 1136), Paris. ECDC: Sabrina Bacci, European Centre for Disease Prevention and Control, Stockholm, Sweden, Gianfranco Spiteri, European Centre for Disease Prevention and Control, Stockholm, Sweden., Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. ADBD - Anàlisi de Dades Complexes per a les Decisions Empresarials, Brisse, Sylvain, European Centre for Disease Prevention and Control (ECDC), and Institut Pasteur [Paris]
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Male ,0301 basic medicine ,Bordetella pertussis ,Pediatrics ,Whooping Cough ,Epidemiology ,Infants -- Salut i Higiene ,Hospitals - Admission and discharge ,Children -- Health and hygiene ,Infants (Newborn) ,0302 clinical medicine ,Interquartile range ,pertussis incidence ,030212 general & internal medicine ,Vacunació ,Czech Republic ,media_common ,Pertussis Vaccine ,Babies ,Surveillance ,biology ,Norway ,Incidence ,Incidence (epidemiology) ,pertussis ,Vaccination ,Gestational age ,Hospitals -- Ingressos i altes ,Hospitals ,3. Good health ,Europe ,Hospitalization ,Italy ,Nodrissons ,hospital surveillance ,France ,Niños -- Salud e higiene ,medicine.medical_specialty ,030106 microbiology ,Hospitales -- Admisión y alta ,03 medical and health sciences ,Virology ,Intensive care ,medicine ,Humans ,media_common.cataloged_instance ,Tos ferina ,European Union ,European union ,Disease burden ,Aged ,Whooping cough ,business.industry ,Infants nadons -- Malalties ,active surveillance ,Infant, Newborn ,Public Health, Environmental and Occupational Health ,Vacunación ,Infant ,biology.organism_classification ,Tosferina ,[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,Lactantes ,business ,Ireland ,Ciències de la salut [Àrees temàtiques de la UPC] - Abstract
Introduction PERTINENT is a pilot active surveillance system of infants hospitalised with pertussis in six European Union/European Economic Area countries (37 hospitals, seven sites). Aim This observational study aimed to estimate annual pertussis incidence per site from 2016 to 2018 and respective trends between 2017 and 2018. Pertussis cases were described, including their severity. Methods We developed a generic protocol and laboratory guidelines to harmonise practices across sites. Cases were hospitalised infants testing positive for Bordetella pertussis by PCR or culture. Sites collected demographic, clinical, laboratory data, vaccination status, and risk/protective factors. We estimated sites’ annual incidences by dividing case numbers by the catchment populations. Results From December 2015 to December 2018, we identified 469 cases (247 males; 53%). The median age, birthweight and gestational age were 2.5 months (range: 0–11.6; interquartile range (IQR): 2.5), 3,280 g (range: 700–4,925; IQR: 720) and 39 weeks (range: 25–42; IQR: 2), respectively. Thirty cases (6%) had atypical presentation either with cough or cyanosis only or with absence of pertussis-like symptoms. Of 330 cases with information, 83 (25%) were admitted to intensive care units including five deceased infants too young to be vaccinated. Incidence rate ratios between 2018 and 2017 were 1.43 in Czech Republic (p = 0.468), 0.25 in Catalonia (p = 0.002), 0.71 in France (p = 0.034), 0.14 in Ireland (p = 0.002), 0.63 in Italy (p = 0.053), 0.21 in Navarra (p = 0.148) and zero in Norway. Conclusions Incidence appeared to decrease between 2017 and 2018 in all but one site. Enhanced surveillance of hospitalised pertussis in Europe is essential to monitor pertussis epidemiology and disease burden.
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- 2021
43. A brain atlas of axonal and synaptic delays based on modelling of cortico-cortical evoked potentials
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Jean-Didier, Lemaréchal, Maciej, Jedynak, Lena, Trebaul, Anthony, Boyer, François, Tadel, Manik, Bhattacharjee, Pierre, Deman, Viateur, Tuyisenge, Leila, Ayoubian, Etienne, Hugues, Blandine, Chanteloup-Forêt, Carole, Saubat, Raouf, Zouglech, Gina Catalina, Reyes Mejia, Sébastien, Tourbier, Patric, Hagmann, Claude, Adam, Carmen, Barba, Fabrice, Bartolomei, Thomas, Blauwblomme, Jonathan, Curot, François, Dubeau, Stefano, Francione, Mercedes, Garcés, Edouard, Hirsch, Elizabeth, Landré, Sinclair, Liu, Louis, Maillard, Eeva-Liisa, Metsähonkala, Ioana, Mindruta, Anca, Nica, Martin, Pail, Ana Maria, Petrescu, Sylvain, Rheims, Rodrigo, Rocamora, Andreas, Schulze-Bonhage, William, Szurhaj, Delphine, Taussig, Antonio, Valentin, Haixiang, Wang, Philippe, Kahane, Nathalie, George, Olivier, David, Elisa, Nacci, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Le Centre de Magnétoencéphalographie et d'Electroencéphalographie [CHU Pitié-Salpêtrière] (MEG-EEG), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Service de neurochirurgie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche cerveau et cognition (CERCO), Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], Hospital Universitario y Politécnico La Fe [Valencia, Spain], CHU Strasbourg, Centre Hospitalier Sainte Anne [Paris], Jinan University [Guangzhou], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), University Emergency Hospital [Bucharest], Laboratoire Traitement du Signal et de l'Image (LTSI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), University Hospital Brno, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), IMIM-Hospital del Mar, Generalitat de Catalunya, Freiburg University Medical Center, CHU Lille, Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, Tsinghua University [Beijing] (THU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli Studi di Firenze = University of Florence (UniFI), Centre de recherche cerveau et cognition (CERCO UMR5549), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Hospital Universitari i Politècnic La Fe = University and Polytechnic Hospital La Fe, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Universitäts Klinikum Freiburg = University Medical Center Freiburg (Uniklinik), The research leading to these results has received funding from the European Research Councilunder the European Union's Seventh Framework Programme (FP/2007-2013)/ERC GrantAgreement no. 616268 F-TRACT, the European Union’s Horizon 2020 FrameworkProgramme for Research and Innovation under Specific Grant Agreement No. 785907 and945539 (Human Brain Project SGA2 and SGA3), and from the French 'Investissementsd’avenir' programme under grant numbers ANR-11-INBS-0006 and ANR-10-IAIHU-06. PHwas supported by Swiss National Science Foundation grant #CRSII5_170873, ANR-11-INBS-0006,FLI,France Life Imaging(2011), European Project: 616268,EC:FP7:ERC,ERC-2013-CoG,F-TRACT(2014), European Project: 785907,H2020,HBP SGA2(2018), European Project: 945539,H2020,H2020-SGA-FETFLAG-HBP-2019,HBP SGA3(2020), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Toulouse Mind & Brain Institut (TMBI), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Gestionnaire, Hal Sorbonne Université, Infrastructures - France Life Imaging - - FLI2011 - ANR-11-INBS-0006 - INBS - VALID, Functional Brain Tractography - F-TRACT - - EC:FP7:ERC2014-08-01 - 2019-07-31 - 616268 - VALID, Human Brain Project Specific Grant Agreement 2 - HBP SGA2 - - H20202018-04-01 - 2020-03-31 - 785907 - VALID, and Human Brain Project Specific Grant Agreement 3 - HBP SGA3 - - H20202020-01-01 - 2023-09-30 - 945539 - VALID
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neural mass models ,0303 health sciences ,Brain Mapping ,Epilepsy ,cortico-cortical evoked potential ,Brain ,Bayes Theorem ,Electric Stimulation ,dynamic causal modelling ,03 medical and health sciences ,0302 clinical medicine ,axonal conduction delay ,Humans ,[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,Neurology (clinical) ,[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,synaptic time constant ,Evoked Potentials ,030217 neurology & neurosurgery ,030304 developmental biology - Abstract
Epilepsy presurgical investigation may include focal intracortical single-pulse electrical stimulations with depth electrodes, which induce cortico-cortical evoked potentials at distant sites because of white matter connectivity. Cortico-cortical evoked potentials provide a unique window on functional brain networks because they contain sufficient information to infer dynamical properties of large-scale brain connectivity, such as preferred directionality and propagation latencies. Here, we developed a biologically informed modelling approach to estimate the neural physiological parameters of brain functional networks from the cortico-cortical evoked potentials recorded in a large multicentric database. Specifically, we considered each cortico-cortical evoked potential as the output of a transient stimulus entering the stimulated region, which directly propagated to the recording region. Both regions were modelled as coupled neural mass models, the parameters of which were estimated from the first cortico-cortical evoked potential component, occurring before 80 ms, using dynamic causal modelling and Bayesian model inversion. This methodology was applied to the data of 780 patients with epilepsy from the F-TRACT database, providing a total of 34 354 bipolar stimulations and 774 445 cortico-cortical evoked potentials. The cortical mapping of the local excitatory and inhibitory synaptic time constants and of the axonal conduction delays between cortical regions was obtained at the population level using anatomy-based averaging procedures, based on the Lausanne2008 and the HCP-MMP1 parcellation schemes, containing 130 and 360 parcels, respectively. To rule out brain maturation effects, a separate analysis was performed for older (>15 years) and younger patients (
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- 2021
44. COVID-19 and beyond: a call for action and audacious solidarity to all the citizens and nations, it is humanity’s fight
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Sai-Juan Chen, Mehmet Ozturk, Michel Goldman, Denis Noble, Hiroaki Kitano, J. T. Paweska, James R. Heath, Doron Lancet, Karine Clément, Marcelo B. Soares, Mathias Uhlén, Damjana Rozman, Emiel F.M. Wouters, Christian Bréchot, Josep Roca, Ulrike Protzer, Ferran Sanz, Peter J. M. Openshaw, Olaf Wolkenhauer, Martine Laville, Antoine Magnan, Tolu Oni, Bartha Maria Knoppers, Peter J. Sterk, Ariel B. Lindner, Iruka N. Okeke, Myrna C. Bonaldo, Daria Danilenko, Alfonso Valencia, Bertrand Boutron, Rudi Balling, Samir K. Brahmachari, Andrea Gelemanovic, Sumio Sugano, Alberto Di Meglio, Edgar Morin, Jason D Goldman, Mihael H. Polymeropoulos, Christian Pristipino, Carole Goble, Sylvie van der Werf, Vincenzo Valentini, Ismail Serageldin, Laurent Nottale, Leroy Hood, Jesper Tegnér, S. Palkonen, Alfredo Cesario, Christophe Pison, Yi-Ke Guo, Andres Metspalu, Andrea Urbani, David Supple, Mark Lathrop, Laurent P. Nicod, Catherine Larue, Theresa J. Ochoa, Peter Hunter, Eran Segal, Manlio Vinciguerra, Niklas Blomberg, Lisa F. P. Ng, Helga Nowotny, Marc Santolini, Charles Auffray, Giulio Superti-Furga, Takashi Gojobori, Li Jin, Giovanni Scambia, Pulmonology, European Institute for Systems Biology and Medicine (EISBM), University of Luxembourg [Luxembourg], ELIXIR Hub [Cambridge], Fundação Oswaldo Cruz / Oswaldo Cruz Foundation (FIOCRUZ), Réseau International des Instituts Pasteur (RIIP), CSIR Institute of Genomics and Integrative Biology [New Delhi] (IGIB), Global Virus Network, University of South Florida [Tampa] (USF), Fondazione Policlinico Universitario A. Gemelli [Rome] (FPUAG), Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart [Roma] (Unicatt), Shanghai Jiao Tong University School of Medicine, Nutrition et obésités: approches systémiques (UMR-S 1269) (Nutriomics), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Smorodintsev Research Institute of Influenza [Saint-Petersbourg, Russia], European Organization for Nuclear Research (CERN), Mediterranean Institute for Life Sciences [Split, Croatia] (MedILS), University of Manchester [Manchester], King Abdullah University of Science and Technology (KAUST), National Institute of Genetics [Mishima, Japan] (NIG), Providence St Joseph Health [Seattle], Université libre de Bruxelles (ULB), Imperial College London, Hong Kong Baptist University (HKBU), Institute for Systems Biology [Seattle] (ISB), University of Auckland [Auckland], Fudan University [Shanghai], The Systems Biology Institute [Tokyo] (SBI), Okinawa Institute of Science and Technology Graduate University (OIST), McGill University = Université McGill [Montréal, Canada], Weizmann Institute of Science [Rehovot, Israël], Luxembourg Institute of Health (LIH), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Centre de Recherche Interdisciplinaire / Center for Research and Interdisciplinarity [Paris, France] (CRI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), PHU 2 - Institut du Thorax et du Sytème Nerveux [CHU Nantes] (ITSN), Centre hospitalier universitaire de Nantes (CHU Nantes), University of Tartu, Association pour la Pensée Complexe [Montpellier], Observatoire de Paris - Site de Meudon (OBSPM), Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Universidad Peruana Cayetano Heredia (UPCH), University of Ibadan, University of Cambridge School of Clinical Medicine, University of Cape Town, Dokuz Eylül Üniversitesi = Dokuz Eylül University [Izmir] (DEÜ), Université Grenoble Alpes (UGA), Technische Universität München = Technical University of Munich (TUM), Bibliotheca Alexandrina - Library of Alexandria, University of Illinois College of Medicine, University of Illinois System, University of Amsterdam [Amsterdam] (UvA), The University of Tokyo (UTokyo), The Open University of Japan [Chiba] (OUJ), Medizinische Universität Wien = Medical University of Vienna, Karolinska University Hospital [Solna, Sweden] (KUH), Royal Institute of Technology [Stockholm] (KTH ), Barcelona Supercomputing Center - Centro Nacional de Supercomputacion (BSC - CNS), Génétique Moléculaire des Virus à ARN - Molecular Genetics of RNA Viruses (GMV-ARN (UMR_3569 / U-Pasteur_2)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Centre National de Référence des Virus des Infections Respiratoires (dont la Grippe) [Lyon] (CNR - laboratoire associé), Institut des Agents Infectieux [Lyon] (IAI), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), St. Anne’s University Hospital [Brno], University of Rostock, Maastricht University [Maastricht, Pays-Bas], Ludwig Boltzmann Institute for Lung Health [Vienna, Austria], This work was supported during its preparation phases by the State Key Laboratory of Medical Genomics, OverseasExpertise Introduction Project for Discipline Innovation [111 Project, B17029] to SJC, LH, CA, European Union grants CASyM [FP7-n°305033] to CA, RB, JR, DR, DS, JT, OW, eTRIKS (IMI-1-n°115446) to CA, RB, YG, PREPARE [FP7-n°602525] to CA, PO, SV, and initial funds in support of the deep phenotyping clinical study from philanthropic donors, Gilead, Merck and Novartis to JG, JH, LH, the Ricerca Corrente Program by the Italian Ministry of Health to AC, CPr, GS, AU, VV, the National Megaprojects of China for Infectious Diseases [2017ZX10103009-001, 2018ZX10305409-001-005], Double First-class projects from the Ministry of Education to the National Research Center for Translational Medicine Shanghai to SJC, Shanghai Municipal Science and Technology Major Project [2017SHZDZX01] to LJ., European Project: 305033,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,CASYM(2012), and European Project: 602525,EC:FP7:HEALTH,FP7-HEALTH-2013-INNOVATION-1,PREPARE(2014)
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Civil society ,Economic growth ,Distancing ,[SDV]Life Sciences [q-bio] ,viruses ,Public administration ,Intellectual property ,Coalition ,Coronavirus ,Covid-19 ,Pandemic ,Sars-cov-2 ,Solidarity ,Systemic Crisis ,Systemic Response ,General Biochemistry, Genetics and Molecular Biology ,03 medical and health sciences ,0302 clinical medicine ,Political science ,0502 economics and business ,media_common.cataloged_instance ,030212 general & internal medicine ,050207 economics ,European union ,General Pharmacology, Toxicology and Pharmaceutics ,media_common ,030304 developmental biology ,Government ,0303 health sciences ,050208 finance ,General Immunology and Microbiology ,SARS-CoV-2 ,05 social sciences ,Systemic crisis ,Conflict of interest ,Collective intelligence ,virus diseases ,COVID-19 ,General Medicine ,There is no alternative ,biochemical phenomena, metabolism, and nutrition ,3. Good health ,Alliance ,13. Climate action ,Honorarium ,Systemic response - Abstract
Background: SARS-CoV-2 belongs to a subgroup of coronaviruses rampant in bats for centuries. It has caused the COVID-19 pandemic. Most patients recover, but a minority of severe cases experience acute respiratory distress or an inflammatory storm devastating many organs that can lead to patient death. The spread of SARS-CoV-2 has been facilitated by the increasing intensity of air travel, urban congestion and human contact during the last half century. Until therapies and vaccines are available, tests for virus and exposure, confinement measures and physical distancing have helped curb the pandemic. Vision: The COVID-19 pandemic calls for safeguards and remediation measures through a systemic response. A myriad of self-organizing initiatives by scientists and citizens is developing an advanced collective intelligence response to the coronavirus crisis. Their integration forms Olympiads of Solidarity and Health. Their ability to optimize our response to COVID-19 could serve as a model to trigger a global metamorphosis of our societies with far-reaching consequences for attacking fundamental challenges facing humanity in the 21st century. Mission: For COVID-19 and these other challenges, there is no alternative but action. Meeting in Paris in 2003, we set out to "rethink research to understand life and improve health." We have now formed an international coalition of academia and industry ecosystems taking a systems medicine approach to understanding COVID-19 by thoroughly characterizing viruses, patients and populations during the pandemic, using openly shared tools. All results will be publicly available with no initial claims for intellectual property rights. This World Alliance for Health and Wellbeing will catalyze the creation of medical and health products such as diagnostic tests, drugs and vaccines that become common goods accessible to all, while seeking further alliances with civil society to bridge with socio-ecological and technological approaches that characterise urban systems, for a collective response to future health emergencies. Funding: This work was supported during its preparation phases by the State Key Laboratory of Medical Genomics, Overseas Expertise Introduction Project for Discipline Innovation (111 Project, B17029) to SJC, LH, CA; European Union grants CASyM (FP7-n°305033) to CA, RB, JR, DR, DS, JT, OW; eTRIKS (IMI-1-n°115446) to CA, RB, YG; PREPARE (FP7n°602525) to CA, PO, SV; and initial funds in support of the deep phenotyping clinical study from philanthropic donors, Gilead, Merck and Novartis to JG, JH, LH; the Ricerca Corrente Program by the Italian Ministry of Health to AC, CPr, GS, AU, VV; the National Megaprojects of China for Infectious Diseases (2017ZX10103009-001, 2018ZX10305409-001-005), Double Firstclass projects from the Ministry of Education to the National Research Center for Translational Medicine Shanghai to SJC; Shanghai Municipal Science and Technology Major Project (2017SHZDZX01) to LJ. Conflict of Interest: Rudi Balling reports being a founder/shareholder of ITTM S.A. and Megeno S.A., outside the submitted work, he is co-inventor and holder of two issued patents; James Heath reports personal fees and other from PACT Pharma, outside the submitted work; Hiroaki Kitano reports grants from Minister of Health, Welfare, and Labor of Japanese Government, grants from Okinawa Prefecture Government, outside the submitted work; Doron Lancet reports personal fees from Weizmann Institute of Science and LifeMap Science Inc., outside the submitted work; Catherine Larue reports personal fees from Genfit, outside the submitted work; Peter Openshaw reports personal fees for consultancy work with Janssen, JJ Susanna Palkonen reports grants from Aimmune, Astra Zeneca, Boehringer Ingelheim, Chiesi, DBV Technologies, GSK, Leo Pharma, Novartis, Pfizer, Regeneron Pharmaceuticals, Sanofi Genzyme, outside the submitted work, is employed by the EFA who receives unrestricted grants from corporate entities as above, represents EFA in the following advisory groups of these entities: Astra Zeneca COPD Advisory Committee, GSK Health Advisory Board and Novartis European Patient Advisory Group, receives no personal gain, honoraria, when applicable expenses are payed to her organization, is in a voluntary function the Chair of the Patient Access Partnership PACT who receives unrestricted grants from EFPIA, MedTech Europe, EUCOPE and Medicines for Europe for core operations, and project grants from individual companies, outside the submitted work; Christophe Pison reports personal fees and non-financial support from AstraZeneca, Boehringer Ingelheim, GSK, Novartis, outside the submitted work; Mihael Polymeropulos reports other from Vanda Pharmaceuticals, outside the submitted work; Ulrike Protzer reports grants from VIR Biotechnology, grants and non-financial support from Roche, grants from Alios-JJ Peter Sterk reports other from Breathomix BV, outside the submitted work; Giulio Superti-Furga reports being a shareholder of Proxygen GmbH, Haplogen GmbH and Allcyte GmbH, outside the submitted work; Vincenzo Valentini reports personal fees from Merck Serono, Betaglue, outside the submitted work; Sylvie van der Werf reports other from Sanofi Pasteur, outside the submitted work; she is the holder of four issued patents. The other authors have declared no conflict of interest.
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- 2021
45. Quality Improvement Guidelines for Transcatheter Embolization for Acute Gastrointestinal Nonvariceal Hemorrhage
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Husty, Jakub [University Hospital Brno and Medical Faculty of Masaryk University Brno, Department of Radiology (Czech Republic)]
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- 2013
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46. Quality Improvement Guidelines for Transjugular Intrahepatic Portosystemic Shunt (TIPS)
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Valek, Vlastimil [University Hospital Brno and Medical Faculty of Masaryk University Brno, Department of Radiology (Czech Republic)]
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- 2012
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47. Impact of COVID-19 pandemic and diabetes on mechanical reperfusion in patients with STEMI: insights from the ISACS STEMI COVID 19 Registry
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Gianluca Caiazzo, Giuseppe De Luca, Sébastien Levesque, Victor Becerra, Filippo Zilio, Gabriele Gabrielli, Xacobe Flores Rios, José Moreu, Tomas Kovarnik, Wojtek Wojakowski, Juan Sanchis Forés, Luca Donazzan, Dimitrios Alexopoulos, Gerard Rourai Ferrer, Luigi Vignali, Alessandra Scoccia, Giuseppe Uccello, Lucia Marinucci, Marco Boccalatte, Lisette Okkels Jensen, Enrico Fabris, Michał Kidawa, Miha Cercek, Ylitalo Antti, Stephane Manzo, Lucian Calmac, Gennaro Galasso, Vincenzo Guiducci, Iñigo Lozano Martínez-Luengas, Petr Kala, Elvin Kedhi, Bruno Scheller, Monica Verdoia, Bor Wilbert, Maurizio Menichelli, Benjamin Faurie, Thomas W Johnson, Alejandro Gutierrez Barrios, José Luis Díez Gil, Giuliana Cortese, Clemens von Birgelen, Guido Parodi, Raul Moreno, Francesco Versaci, Arpad Lux, Santiago Camacho-Freiere, Xavier Carrill, Periklis Davlouros, Mika Laine, Adriaan O. Kraaijeveld, Heidi Lehtola, Jurriën M. ten Berg, Gianni Casella, Vladimir Ganyukov, Ciro De Simone, Nikola Bakraceski, Rui Campante Teles, Maurits T. Dirksen, Francisco Bosa Ojeda, Marija Vavlukis, RS: Carim - H01 Clinical atrial fibrillation, Cardiologie, [De Luca,G, Verdoia,M] Division of Cardiology, Azienda Ospedaliero-Universitaria Maggiore della Carità, Università del Piemonte Orientale, Novara, Italy. giuseppe.deluca@med.uniupo.it. [Cercek,M] Centre for Intensive Internal Medicine, University Medical Centre, Ljubljana, Slovenia. [Jensen,LO] Division of Cardiology, Odense Universitets Hospital, Odense, Danemark. [Vavlukis,M] University Clinic for Cardiology, Medical Faculty, Ss' Cyril and Methodius University, Skopje, North Macedonia. [Calmac,L] Clinic Emergency Hospital of Bucharest, Bucharest, Romania. [Johnson,T] Division of Cardiology, Bristol Heart Institute, University Hospitals Bristol, NHSFT & University of Bristol, Bristol, UK. [Roura i Ferrer,G] Interventional Cardiology Unit, Heart Disease Institute, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Spain. [Ganyukov,V] 8Division of Cardiology, State Research Institute for Complex Issues of Cardiovascular Diseases, Kemerovo, Russia. [Wojakowski,W] Division of Cardiology, Medical University of Silezia, Katowice, Poland. [von Birgelen,C] Department of Cardiology, Medisch Spectrum Twente, Thoraxcentrum Twente, Enschede, The Netherlands. [Versaci,F] Division of Cardiology, Ospedale Santa Maria Goretti, Latina, Italy. [Ten Berg,J] Division of Cardiology, St Antonius Hospital, Nieuwegein, The Netherlands. [Laine,L] Division of Cardiology, Helsinki University Central Hospital, Helsinki, Finland. [Dirksen,M] Division of Cardiology, Northwest Clinic, Alkmaar, The Netherlands. [Casella,G] Division of Cardiology, Ospedale Maggiore, Bologna, Italy. [Kala,P] University Hospital Brno, Medical Faculty of Masaryk University Brno, Brno, Czech Republic. [Díez Gil,JL] H. Universitario y Politécnico La Fe, Valencia, Spain. [Becerra,V] Hospital Clínico Universitario Virgen de la Victoria, Málaga, Spain. [De Simone,C] Division of Cardiology, Clinica Villa dei Fiori, Acerra, Italy. [Carrill,X] Hospital Germans Triasi Pujol, Badalona, Spain. [Scoccia,A] Division of Cardiology, Ospedale 'Sant'Anna', Ferrara, Italy. [Lux,A] Maastricht University Medical Center, Maastricht, The Netherlands. [Kovarnik,T] University Hospital Prague, Prague, Czech Republic. [Davlouros,P] Invasive Cardiology and Congenital Heart Disease, Patras University Hospital, Patras, Greece. [Gabrielli,G] Interventional Cardiology Unit, Azienda Ospedaliero Universitaria 'Ospedali Riuniti', Ancona, Italy. [Flores Rios,X] Complexo Hospitaliero Universitario La Coruna, La Coruna, Spain. [Bakraceski,N] Center for Cardiovascular Diseases, Ohrid, North Macedonia. [Levesque,S] Center Hospitalier, Universitaire de Poitiers, University Hospital, Poitiers, France. [Guiducci,V] AUSL-IRCCS Reggio Emilia, Reggio Emilia, Italy. [Kidawa,M] Central Hospital of Medical University of Lodz, Łódź, Poland. [Marinucci,L] Division of Cardiology, AziendaOspedaliera 'Ospedali Riuniti Marche Nord', Pesaro, Italy. [Zilio,F] Ospedale Santa Chiara di Trento, Trento, Italy. [Galasso,G] Division of Cardiology, Ospedale San Giovanni di Dio e Ruggi d'Aragona, Salerno, Italy. [Fabris,E] Azienda Ospedaliero - Universitaria Ospedali Riuniti Trieste, Trieste, Italy. [Menichelli,M] Division of Cardiology, Ospedale 'F. Spaziani, Frosinone, Italy. [Manzo,S] Division of Cardiology, CHU Lariboisière, AP-HP, Paris VII University, INSERM UMRS 942, Paris, France. [Caiazzo,G] Division of Cardiology, Ospedale 'G Moscati', Aversa, Italy. [Moreu,J] Division of Cardiology, Complejo Hospitalario de Toledo, Toledo, Spain. [Sanchis Forés,J] Division of Cardiology, Hospital Clinico Universitario de Valencia, Valencia, Spain. [Donazzan,L] Division of Cardiology, Ospedale 'S. Maurizio' Bolzano Ospedale 'S. Maurizio', Bolzano, Italy. [Vignali,L] Interventional Cardiology Unit, Azienda Ospedaliera Sanitaria, Parma, Italy. [Teles,R] Division of Cardiology, Hospital de Santa Cruz, CHLO - Carnaxide, Carnaxide, Portugal. [Bosa Ojeda,F] Division of Cardiology, Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain. [Lehtola,H] Division of Cardiology, Oulu University Hospital, Oulu, Finland. [Camacho‑Freiere,S] Division of Cardiology, Juan Ramon Jimenez Hospital, Huelva, Spain. [Kraaijeveld,A] Division of Cardiology, UMC Utrecht, Utrecht, The Netherlands. [Antti,Y] Division of Cardiology, Heart Centre Turku, Turku, Finland. [Boccalatte,M] Division of Cardiology, Ospedale Santa Maria delle Grazie, Pozzuoli, Italy. [Lozano Martínez‑Luengas,I] Division of Cardiology, Hospital Cabueñes, Gijon, Spain. [Scheller,B] Division of Cardiology, Clinical and Experimental Interventional Cardiology, University of Saarland, Saarbrücken, Germany. [Alexopoulos,D] Division of Cardiology, Attikon University Hospital, Athens, Greece. [Faurie,B] Division of Cardiology, Ospedale 'A. Manzoni' Lecco, Lecco, Italy. [Gutierrez Barrios,A] Division of Cardiology, Groupe Hospitalier Mutualiste de Grenoble, Grenoble, France. [Wilbert,B] Division of Cardiology, Hospital Puerta del Mar, Cadiz, Spain. [Cortese,G] Department of Statistical Sciences, University of Padova, Padova, Italy. [Moreno,R] Division of Cardiology, Hospital la Paz, Madrid, Spain. [Parodi,G] Azienda Ospedaliero-Universitaria Sassari, Sassari, Italy. [Kedhi,E] Division of Cardiology, St-Jan Hospital, Brugge, Belgium. [Verdoia,M] Division of Cardiology, Ospedale degli Infermi, ASL Biella, Ponderano, Italy., HUS Heart and Lung Center, Kardiologian yksikkö, De Luca, G., Cercek, M., Jensen, L. O., Vavlukis, M., Calmac, L., Johnson, T., Roura i Ferrer, G., Ganyukov, V., Wojakowski, W., von Birgelen, C., Versaci, F., Ten Berg, J., Laine, M., Dirksen, M., Casella, G., Kala, P., Diez Gil, J. L., Becerra, V., De Simone, C., Carrill, X., Scoccia, A., Lux, A., Kovarnik, T., Davlouros, P., Gabrielli, G., Flores Rios, X., Bakraceski, N., Levesque, S., Guiducci, V., Kidawa, M., Marinucci, L., Zilio, F., Galasso, G., Fabris, E., Menichelli, M., Manzo, S., Caiazzo, G., Moreu, J., Sanchis Fores, J., Donazzan, L., Vignali, L., Teles, R., Bosa Ojeda, F., Lehtola, H., Camacho-Freiere, S., Kraaijeveld, A., Antti, Y., Boccalatte, M., Martinez-Luengas, I. L., Scheller, B., Alexopoulos, D., Uccello, G., Faurie, B., Gutierrez Barrios, A., Wilbert, B., Cortese, G., Moreno, R., Parodi, G., Kedhi, E., and Verdoia, M.
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Registrie ,Male ,lcsh:Diseases of the circulatory (Cardiovascular) system ,Infarto del miocardio con elevación del ST ,Time Factors ,COVID-19/diagnosis ,Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies::Retrospective Studies [Medical Subject Headings] ,Phenomena and Processes::Physical Phenomena::Time::Time Factors [Medical Subject Headings] ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,PRIMARY ANGIOPLASTY ,030204 cardiovascular system & hematology ,Rate ratio ,Geographical Locations::Geographic Locations::Europe::Europe, Eastern [Medical Subject Headings] ,Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings] ,Time-to-Treatment/trends ,0302 clinical medicine ,Retrospective Studie ,Risk Factors ,Síndrome coronario agudo ,030212 general & internal medicine ,Myocardial infarction ,Hospital Mortality ,Registries ,Diabetes Mellitus/diagnosis ,Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Patient Care::Time-to-Treatment [Medical Subject Headings] ,Persons::Persons::Age Groups::Adult::Aged [Medical Subject Headings] ,Original Investigation ,Percutaneous Coronary Intervention/adverse effects ,Aged ,COVID-19 ,Diabetes Mellitus ,Europe ,Female ,Humans ,Hypertension ,Middle Aged ,Percutaneous Coronary Intervention ,Retrospective Studies ,ST Elevation Myocardial Infarction ,Time-to-Treatment ,Treatment Outcome ,Hospital Mortality/trends ,Health Care::Health Services Administration::Organization and Administration::Records as Topic::Registries [Medical Subject Headings] ,education.field_of_study ,Incidence (epidemiology) ,Analytical, Diagnostic and Therapeutic Techniques and Equipment::Surgical Procedures, Operative::Cardiovascular Surgical Procedures::Vascular Surgical Procedures::Endovascular Procedures::Percutaneous Coronary Intervention [Medical Subject Headings] ,Diabetes Mellitu ,Intervención coronaria percutánea ,3. Good health ,surgical procedures, operative ,Acute coronary syndrome ,Cardiology and Cardiovascular Medicine ,Human ,medicine.medical_specialty ,ACUTE MYOCARDIAL-INFARCTION ,Time Factor ,Population ,Health Care::Environment and Public Health::Public Health::Epidemiologic Factors::Causality::Risk Factors [Medical Subject Headings] ,Europe/epidemiology ,Diseases::Cardiovascular Diseases::Vascular Diseases::Hypertension [Medical Subject Headings] ,03 medical and health sciences ,Hypertension/epidemiology ,Internal medicine ,Diabetes mellitus ,medicine ,cardiovascular diseases ,education ,Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Prognosis::Treatment Outcome [Medical Subject Headings] ,Pandemia ,Pandemic ,Diseases::Endocrine System Diseases::Diabetes Mellitus [Medical Subject Headings] ,ST Elevation Myocardial Infarction/mortality ,business.industry ,Risk Factor ,MORTALITY ,Percutaneous coronary intervention ,Persons::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings] ,Retrospective cohort study ,medicine.disease ,Diseases::Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [Medical Subject Headings] ,lcsh:RC666-701 ,3121 General medicine, internal medicine and other clinical medicine ,Reperfusion ,Conventional PCI ,Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Mortality::Hospital Mortality [Medical Subject Headings] ,business - Abstract
Background It has been suggested the COVID pandemic may have indirectly affected the treatment and outcome of STEMI patients, by avoidance or significant delays in contacting the emergency system. No data have been reported on the impact of diabetes on treatment and outcome of STEMI patients, that was therefore the aim of the current subanalysis conducted in patients included in the International Study on Acute Coronary Syndromes–ST Elevation Myocardial Infarction (ISACS-STEMI) COVID-19. Methods The ISACS-STEMI COVID-19 is a retrospective registry performed in European centers with an annual volume of > 120 primary percutaneous coronary intervention (PCI) and assessed STEMI patients, treated with primary PCI during the same periods of the years 2019 versus 2020 (March and April). Main outcomes are the incidences of primary PCI, delayed treatment, and in-hospital mortality. Results A total of 6609 patients underwent primary PCI in 77 centers, located in 18 countries. Diabetes was observed in a total of 1356 patients (20.5%), with similar proportion between 2019 and 2020. During the pandemic, there was a significant reduction in primary PCI as compared to 2019, similar in both patients with (Incidence rate ratio (IRR) 0.79 (95% CI: 0.73–0.85, p p p Furthermore, the pandemic was independently associated with a significant increase in door-to-balloon and total ischemia times only among patients without diabetes, which may have contributed to the higher mortality, during the pandemic, observed in this group of patients. Conclusions The COVID-19 pandemic had a significant impact on the treatment of patients with STEMI, with a similar reduction in primary PCI procedures in both patients with and without diabetes. Hypertension had a significant impact on PCI reduction only among patients without diabetes. We observed a significant increase in ischemia time and door-to-balloon time mainly in absence of diabetes, that contributed to explain the increased mortality observed in this group of patients during the pandemic. Trial registration number: NCT 04412655.
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- 2020
48. Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia
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Ralph S. Lachman, Pavel Krejci, Wenjuan Zhang, S. Paige Taylor, Maya Barad, Deborah Krakow, Deborah A. Nickerson, Jennifer Zieba, Ivan Duran, Michael J. Bamshad, Michaela Bosakova, Jessica X. Chong, Daniel H. Cohn, Fabiana Csukasi, Jorge H. Martin, [Barad,M, Csukasi,F, Martin,JH, Paige Taylor,S, Zieba,J, Cohn,DH, Krakow,D, Duran,I] Department of Orthopaedic Surgery, University of California-Los Angeles, CA, United States. [Csukasi,F, Duran,I] Laboratory of Bioengineering and Tissue Regeneration-LABRET, Department of Cell Biology, Genetics and Physiology, University of Malaga, IBIMA, Málaga,Spain. [Bosakova,M, Krejci,P] Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic. [Bosakova,M, Krejci,P] International Clinical Research Center, St. Anne’s University Hospital, Brno, Czech Republic. [Zhang,W, Cohn,DH] Department of Molecular, Cell and Developmental Biology, University of California-Los Angeles, CA, United States. [Lachman,RS, Krakow,D] International Skeletal Dysplasia Registry, University of California, Los Angeles, United States. [Bamshad,M, Nickerson,D, Chong,JX] University of Washington Center for Mendelian Genomics, University of Washington, Seattle, WA, United States. [Cohn,DH, Krakow,D] Orthopaedic Institute for Children, University of California Los Angeles, Los Angeles, CA, United States. [Krakow,D] Department of Human Genetics, University of California-Los Angeles, CA, United States. [Durán,I] Networking Biomedical Research Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Andalusian Centre for Nanomedicine and Biotechnology-BIONAND, Málaga, Spain., D.K. and D.H.C are supported by the NIH grants R01 AR066124, R01 DE019567, R01 HD070394. Sequencing was provided by the University of Washington Center for Mendelian Genomics (UWCMG) which is funded by the National Human Genome Research Institute (NHGRI) and the National Heart, Lung and Blood Institute (NHLBI) Award 1U54HG006493. P.K was supported by the Ministry of Education, Youth and Sports of the Czech Republic (Grant INTER-ACTION LTAUSA19030), the Agency for Healthcare Research of the Czech Republic (Grant NV18-08-00567), and and the Czech Science Foundation (Grant GA19-20123S).
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0301 basic medicine ,Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings] ,DNA Mutational Analysis ,lcsh:Medicine ,Anatomy::Cells::Connective Tissue Cells::Chondrocytes [Medical Subject Headings] ,Diseases::Musculoskeletal Diseases::Bone Diseases::Bone Diseases, Developmental [Medical Subject Headings] ,Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies [Medical Subject Headings] ,Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Glycoproteins::Membrane Glycoproteins::Laminin [Medical Subject Headings] ,Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings] ,Extracellular matrix ,0302 clinical medicine ,Laminin ,2.1 Biological and endogenous factors ,Developmental ,Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis [Medical Subject Headings] ,Aetiology ,Wnt Signaling Pathway ,Anatomy::Musculoskeletal System::Skeleton::Bone and Bones [Medical Subject Headings] ,Phenomena and Processes::Chemical Phenomena::Chemical Processes::Biochemical Processes::Signal Transduction::Wnt Signaling Pathway [Medical Subject Headings] ,lcsh:R5-920 ,Displasia fibrosa ósea ,Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Cell Adhesion [Medical Subject Headings] ,Wnt signaling pathway ,Integrina beta1 ,General Medicine ,Vinculin ,Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease [Medical Subject Headings] ,Cell biology ,Fibrous dysplasia of bone ,Phenotype ,src-Family Kinases ,Laminin alpha 5 ,030220 oncology & carcinogenesis ,Skeletal dysplasia ,Public Health and Health Services ,Bone Diseases ,lcsh:Medicine (General) ,Research Paper ,Signal Transduction ,Cell signaling ,Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings] ,Clinical Sciences ,Biology ,Bent bone ,Bone and Bones ,General Biochemistry, Genetics and Molecular Biology ,Focal adhesion ,03 medical and health sciences ,Chondrocytes ,Skeletal disorder ,β1 integrin ,Genetics ,Cell Adhesion ,Humans ,LAMA5 ,Genetic Predisposition to Disease ,Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings] ,Alleles ,Genetic Association Studies ,Bone Diseases, Developmental ,Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Tyrosine Kinases::src-Family Kinases [Medical Subject Headings] ,lcsh:R ,Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Signal Transduction [Medical Subject Headings] ,Actin cytoskeleton ,Focal Adhesion Kinase 2 ,030104 developmental biology ,Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Tyrosine Kinases::Focal Adhesion Protein-Tyrosine Kinases::Focal Adhesion Kinase 2 [Medical Subject Headings] ,Musculoskeletal ,Mutation ,biology.protein ,beta 1 integrin ,Laminin α5 - Abstract
Background Beyond its structural role in the skeleton, the extracellular matrix (ECM), particularly basement membrane proteins, facilitates communication with intracellular signaling pathways and cell to cell interactions to control differentiation, proliferation, migration and survival. Alterations in extracellular proteins cause a number of skeletal disorders, yet the consequences of an abnormal ECM on cellular communication remains less well understood Methods Clinical and radiographic examinations defined the phenotype in this unappreciated bent bone skeletal disorder. Exome analysis identified the genetic alteration, confirmed by Sanger sequencing. Quantitative PCR, western blot analyses, immunohistochemistry, luciferase assay for WNT signaling were employed to determine RNA, proteins levels and localization, and dissect out the underlying cell signaling abnormalities. Migration and wound healing assays examined cell migration properties. Findings This bent bone dysplasia resulted from biallelic mutations in LAMA5, the gene encoding the alpha-5 laminin basement membrane protein. This finding uncovered a mechanism of disease driven by ECM-cell interactions between alpha-5-containing laminins, and integrin-mediated focal adhesion signaling, particularly in cartilage. Loss of LAMA5 altered β1 integrin signaling through the non-canonical kinase PYK2 and the skeletal enriched SRC kinase, FYN. Loss of LAMA5 negatively impacted the actin cytoskeleton, vinculin localization, and WNT signaling. Interpretation This newly described mechanism revealed a LAMA5-β1 Integrin-PYK2-FYN focal adhesion complex that regulates skeletogenesis, impacted WNT signaling and, when dysregulated, produced a distinct skeletal disorder. Funding Supported by NIH awards R01 AR066124, R01 DE019567, R01 HD070394, and U54HG006493, and Czech Republic grants INTER-ACTION LTAUSA19030, V18-08-00567 and GA19-20123S.
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- 2020
49. Omecamtiv mecarbil in chronic heart failure with reduced ejection fraction: GALACTIC-HF baseline characteristics and comparison with contemporary clinical trials
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Alexandra Arias-Mendoza, Felix J. A. Ramires, Karen Sliwa, Tor Biering-Sørensen, Vyacheslav Mareev, Pranas Šerpytis, Rafael Diaz, Jonathan G. Howlett, Assen Goudev, Eileen O'Meara, Cândida Fonseca, Christopher E. Kurtz, Scott D. Solomon, Kirkwood F. Adams, Eva Goncalvesova, Luis E. Echeverría Correa, Diana Bonderman, John R. Teerlink, Michael Böhm, M. Lund, Galactic-Hf Investigators, Fady I. Malik, Jason C. Legg, María G. Crespo-Leiro, Ulf Dahlström, Lucie Sharpsten, Alexander Parkhomenko, Piotr Ponikowski, Peter S. Macdonald, James C. Fang, Ramón Corbalán, Thomas M. Suter, Mehmet Yilmaz, Gerasimos Filippatos, Jindrich Spinar, Hans Vandekerckhove, Shin-ichi Momomura, Faiez Zannad, János Tomcsányi, Adriaan A. Voors, G. Michael Felker, Inder S. Anand, John J.V. McMurray, Siddique Abbasi, Dragos Vinereanu, David E Lanfear, Claire Varin, John G.F. Cleland, Marco Metra, Cardiovascular Centre (CVC), Badarienė, Jolita, Čelutkienė, Jelena, Šlapikas, Rimvydas, Šerpytis, Pranas, Jarašūnienė, Dalia, Section of Cardiology, San Francisco Veterans Affairs Medical Center and School of Medicine, University of California San Francisco, Estudios Clinicos Latino America (ECLA), Duke Clinical Research Institute, Duke University Medical Center, British Heart Foundation Glasgow Cardiovascular Research Centre (BHF GCRC), University of Glasgow-NHS Greater Glasgow and Clyde, Cardiology, ASST Spedali Civili, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia, Division of Cardiovascular Medicine, Brigham and Women's Hospital and Harvard Medical School, Department Biostatistics University of North Carolina, University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC)-University of North Carolina System (UNC), Brigham & Women’s Hospital [Boston] (BWH), Harvard Medical School [Boston] (HMS), Herlev and Gentofte Hospital, Saarland University, Universitätsklinikum des Saarlandes, Medizinische Universität Wien = Medical University of Vienna, Robertson Institute of Biostatistics and Clinical Trials Unit, University of Glasgow, Pontificia Universidad Católica de Chile (UC), University of A Coruña (UDC), Department of Cardiology and Department of Health, Medicine and Caring Sciences, Linkoping University, undacion Cardiovascular de Colombia, University of Utah, National and Kapodistrian University of Athens (NKUA), Hospital S. Francisco Xavier, CHLO, NOVA Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Commenius Universtity, European Atherosclerosis Society [Göteborg, Sweden] (EAS), Libin Cardiovascular Institute and Cumming School of Medicine, University of Calgary, Henry Ford Hospital, Middlemore Hospital, St. Vincent's Hospital, Sydney, University Clinic of Lomonosov Moscow State University, Saitama Citizens Medical Center, Montreal Heart Institute and Université de Montréal, Institute of Cardiology, Wrocław Medical University, Instituto do Coração (InCor), Hospital das Clínicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, Vilnius University [Vilnius], University of Cape Town, University Hospital Brno, University Hospital and University of Bern, Hospital of the Order of St. John of God, AZ Sint-Lucas, University of Medicine and Pharmacy Carol Davila, University and Emergency Hospital, University of Groningen [Groningen], Dokuz Eylül Üniversitesi = Dokuz Eylül University [Izmir] (DEÜ), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Centre d'investigation clinique plurithématique Pierre Drouin [Nancy] (CIC-P), Centre d'investigation clinique [Nancy] (CIC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Cardiovascular and Renal Clinical Trialists [Vandoeuvre-les-Nancy] (INI-CRCT), Institut Lorrain du Coeur et des Vaisseaux Louis Mathieu [Nancy], French-Clinical Research Infrastructure Network - F-CRIN [Paris] (Cardiovascular & Renal Clinical Trialists - CRCT ), Amgen Inc., Laboratoire Servier, Cytokinetics Inc, The GALACTIC-HF trial is funded by Amgen, Inc. and conducted in collaboration with Cytokinetics with the financial and strategic support of Servier, and BOZEC, Erwan
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Male ,Heart failure ,Omecamtiv mecarbil ,Cardiac myosin activator ,Inotrope ,Myotrope ,Cardiovascular outcomes trial ,030204 cardiovascular system & hematology ,Sacubitril ,Ventricular Function, Left ,0302 clinical medicine ,Medicine ,Urea ,Cardiac and Cardiovascular Systems ,TOLVAPTAN ,Randomized Controlled Trials as Topic ,education.field_of_study ,OUTCOMES ,Ejection fraction ,Kardiologi ,WOMEN ,Middle Aged ,[SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system ,Valsartan ,Cardiology ,Female ,Cardiology and Cardiovascular Medicine ,Corrigendum ,INCREASE CONTRACTILITY ,Research Article ,medicine.drug ,medicine.medical_specialty ,Population ,PHASE-2 ,Placebo ,03 medical and health sciences ,[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system ,Internal medicine ,CARDIAC MYOSIN ACTIVATOR ,Humans ,education ,Aged ,business.industry ,MORTALITY ,Stroke Volume ,medicine.disease ,Clinical trial ,business ,Medical Therapy - Abstract
Aims The safety and efficacy of the novel selective cardiac myosin activator, omecamtiv mecarbil, in patients with heart failure with reduced ejection fraction (HFrEF) is being tested in the Global Approach to Lowering Adverse Cardiac outcomes Through Improving Contractility in Heart Failure (GALACTIC‐HF) trial. Here we describe the baseline characteristics of participants in GALACTIC‐HF and how these compare with other contemporary trials. Methods and results Adults with established HFrEF, New York Heart Association (NYHA) functional class ≥II, ejection fraction ≤35%, elevated natriuretic peptides and either current hospitalization for heart failure or history of hospitalization/emergency department visit for heart failure within a year were randomized to either placebo or omecamtiv mecarbil (pharmacokinetic‐guided dosing: 25, 37.5, or 50 mg bid). A total of 8256 patients [male (79%), non‐white (22%), mean age 65 years] were enrolled with a mean ejection fraction 27%, ischaemic aetiology in 54%, NYHA class II 53% and III/IV 47%, and median N‐terminal pro‐B‐type natriuretic peptide 1971 pg/mL. Heart failure therapies at baseline were among the most effectively employed in contemporary heart failure trials. GALACTIC‐HF randomized patients representative of recent heart failure registries and trials with substantial numbers of patients also having characteristics understudied in previous trials including more from North America (n = 1386), enrolled as inpatients (n = 2084), systolic blood pressure, Graphical representation of the GALACTIC‐HF trial design, enrolment and baseline characteristics. ACEi, angiotensin‐converting enzyme inhibitor; ARB, angiotensin receptor blocker; ARNi, angiotensin receptor–neprilysin inhibitor; CRT, cardiac resynchronization therapy (biventricular pacemaker); CV, cardiovascular; EF, ejection fraction; HFrEF, heart failure with reduced ejection fraction; ICD, implantable cardioverter defibrillator; NT‐proBNP, N‐terminal pro‐B‐type natriuretic peptide; NYHA, Hew York Heart Association; SBP, systolic blood pressure.
- Published
- 2020
50. Microstructure and mechanical properties of Ti-35Nb-6Ta alloy after thermomechanical treatment
- Author
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Vanek, J [St. Anne's University Hospital Brno, Pekarska 53, 656 91 Brno (Czech Republic)]
- Published
- 2012
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