11 results on '"GARCIA, A. FERNANDEZ"'
Search Results
2. The functional and evolutionary impacts of human-specific deletions in conserved elements
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Xue, James R, Mackay-Smith, Ava, Mouri, Kousuke, Garcia, Meilin Fernandez, Dong, Michael X, Akers, Jared F, Noble, Mark, Li, Xue, Lindblad-Toh, Kerstin, Karlsson, Elinor K, Noonan, James P, Capellini, Terence D, Brennand, Kristen J, Tewhey, Ryan, Sabeti, Pardis C, Reilly, Steven K, Andrews, Gregory, Armstrong, Joel C, Bianchi, Matteo, Birren, Bruce W, Bredemeyer, Kevin R, Breit, Ana M, Christmas, Matthew J, Clawson, Hiram, Damas, Joana, Di Palma, Federica, Diekhans, Mark, Eizirik, Eduardo, Fan, Kaili, Fanter, Cornelia, Foley, Nicole M, Forsberg-Nilsson, Karin, Garcia, Carlos J, Gatesy, John, Gazal, Steven, Genereux, Diane P, Goodman, Linda, Grimshaw, Jenna, Halsey, Michaela K, Harris, Andrew J, Hickey, Glenn, Hiller, Michael, Hindle, Allyson G, Hubley, Robert M, Hughes, Graham M, Johnson, Jeremy, Juan, David, Kaplow, Irene M, Keough, Kathleen C, Kirilenko, Bogdan, Koepfli, Klaus-Peter, Korstian, Jennifer M, Kowalczyk, Amanda, Kozyrev, Sergey V, Lawler, Alyssa J, Lawless, Colleen, Lehmann, Thomas, Levesque, Danielle L, Lewin, Harris A, Lind, Abigail, Marinescu, Voichita D, Marques-Bonet, Tomas, Mason, Victor C, Meadows, Jennifer RS, Meyer, Wynn K, Moore, Jill E, Moreira, Lucas R, Moreno-Santillan, Diana D, Morrill, Kathleen M, Muntané, Gerard, Murphy, William J, Navarro, Arcadi, Nweeia, Martin, Ortmann, Sylvia, Osmanski, Austin, Paten, Benedict, Paulat, Nicole S, Pfenning, Andreas R, Phan, BaDoi N, Pollard, Katherine S, Pratt, Henry E, Ray, David A, Rosen, Jeb R, Ruf, Irina, Ryan, Louise, Ryder, Oliver A, Schäffer, Daniel E, Serres, Aitor, Shapiro, Beth, Smit, Arian FA, Springer, Mark, Srinivasan, Chaitanya, and Steiner, Cynthia
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Biological Sciences ,Bioinformatics and Computational Biology ,Genetics ,Biotechnology ,Neurosciences ,Human Genome ,1.1 Normal biological development and functioning ,Underpinning research ,Generic health relevance ,Neurological ,Humans ,Conserved Sequence ,Evolution ,Molecular ,Genome ,Genomics ,RNA-Binding Proteins ,Sequence Deletion ,Brain ,Gene Expression Regulation ,Developmental ,Zoonomia Consortium† ,General Science & Technology - Abstract
Conserved genomic sequences disrupted in humans may underlie uniquely human phenotypic traits. We identified and characterized 10,032 human-specific conserved deletions (hCONDELs). These short (average 2.56 base pairs) deletions are enriched for human brain functions across genetic, epigenomic, and transcriptomic datasets. Using massively parallel reporter assays in six cell types, we discovered 800 hCONDELs conferring significant differences in regulatory activity, half of which enhance rather than disrupt regulatory function. We highlight several hCONDELs with putative human-specific effects on brain development, including HDAC5, CPEB4, and PPP2CA. Reverting an hCONDEL to the ancestral sequence alters the expression of LOXL2 and developmental genes involved in myelination and synaptic function. Our data provide a rich resource to investigate the evolutionary mechanisms driving new traits in humans and other species.
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- 2023
3. Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor
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Webb, Bryn D, Evans, Anthony, Naidich, Thomas P, Bird, Lynne M, Parikh, Sumit, Garcia, Meilin Fernandez, Henderson, Lindsay B, Millan, Francisca, Si, Yue, Brennand, Kristen J, Hung, Peter, Rucker, Janet C, Wheeler, Patricia G, and Schadt, Eric E
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Biological Sciences ,Biomedical and Clinical Sciences ,Genetics ,Clinical Research ,Brain Disorders ,Rare Diseases ,Neurosciences ,4.1 Discovery and preclinical testing of markers and technologies ,Aetiology ,Detection ,screening and diagnosis ,2.1 Biological and endogenous factors ,Neurological ,Adult ,Ataxia ,Child ,Child ,Preschool ,Female ,Haploinsufficiency ,Humans ,Magnetic Resonance Imaging ,Male ,Muscle Hypotonia ,Mutation ,Missense ,Retrospective Studies ,Syndrome ,Transcription Factor Brn-3A ,Tremor ,United States ,Exome Sequencing ,Young Adult ,ataxia ,intention tremor ,paroxysmal tonic upgaze ,POU4F1 ,Clinical Sciences ,Genetics & Heredity ,Clinical sciences - Abstract
De novo, heterozygous, loss-of-function variants were identified in Pou domain, class 4, transcription factor 1 (POU4F1) via whole-exome sequencing in four independent probands presenting with ataxia, intention tremor, and hypotonia. POU4F1 is expressed in the developing nervous system, and mice homozygous for null alleles of Pou4f1 exhibit uncoordinated movements with newborns being unable to successfully right themselves to feed. Head magnetic resonance imaging of the four probands was reviewed and multiple abnormalities were noted, including significant cerebellar vermian atrophy and hypertrophic olivary degeneration in one proband. Transcriptional activation of the POU4F1 p.Gln306Arg protein was noted to be decreased when compared with wild type. These findings suggest that heterozygous, loss-of-function variants in POU4F1 are causative of a novel ataxia syndrome.
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- 2021
4. Pioneer Transcription Factors Target Partial DNA Motifs on Nucleosomes to Initiate Reprogramming
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Soufi, Abdenour, Garcia, Meilin Fernandez, Jaroszewicz, Artur, Osman, Nebiyu, Pellegrini, Matteo, and Zaret, Kenneth S
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Biochemistry and Cell Biology ,Biological Sciences ,Genetics ,Stem Cell Research ,Generic health relevance ,Amino Acid Sequence ,Cell Dedifferentiation ,Cellular Reprogramming ,DNA ,Fibroblasts ,Humans ,Induced Pluripotent Stem Cells ,Kruppel-Like Factor 4 ,Models ,Molecular ,Nucleosomes ,Nucleotide Motifs ,Octamer Transcription Factor-3 ,Protein Structure ,Tertiary ,Sequence Alignment ,Transcription Factors ,Medical and Health Sciences ,Developmental Biology ,Biological sciences ,Biomedical and clinical sciences - Abstract
Pioneer transcription factors (TFs) access silent chromatin and initiate cell-fate changes, using diverse types of DNA binding domains (DBDs). FoxA, the paradigm pioneer TF, has a winged helix DBD that resembles linker histone and thereby binds its target sites on nucleosomes and in compacted chromatin. Herein, we compare the nucleosome and chromatin targeting activities of Oct4 (POU DBD), Sox2 (HMG box DBD), Klf4 (zinc finger DBD), and c-Myc (bHLH DBD), which together reprogram somatic cells to pluripotency. Purified Oct4, Sox2, and Klf4 proteins can bind nucleosomes in vitro, and in vivo they preferentially target silent sites enriched for nucleosomes. Pioneer activity relates simply to the ability of a given DBD to target partial motifs displayed on the nucleosome surface. Such partial motif recognition can occur by coordinate binding between factors. Our findings provide insight into how pioneer factors can target naive chromatin sites.
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- 2015
5. The Effect of Targeted and Tailored Patient Depression Engagement Interventions on Patient–Physician Discussion of Suicidal Thoughts: A Randomized Control Trial
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Shah, Ruby, Franks, Peter, Jerant, Anthony, Feldman, Mitchell, Duberstein, Paul, y Garcia, Erik Fernandez, Hinton, Ladson, Strohecker, Lorrie, and Kravitz, Richard L
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Health Services and Systems ,Biomedical and Clinical Sciences ,Clinical Sciences ,Health Sciences ,Depression ,Brain Disorders ,Clinical Research ,Health Services ,Mental Health ,Mental Illness ,7.1 Individual care needs ,Good Health and Well Being ,Adult ,Data Collection ,Depressive Disorder ,Early Medical Intervention ,Female ,Humans ,Male ,Middle Aged ,Physician-Patient Relations ,Primary Health Care ,Suicidal Ideation ,Treatment Outcome ,suicide ,depression ,patient-physician communication ,General & Internal Medicine ,Clinical sciences ,Health services and systems ,Public health - Abstract
BackgroundDespite improvements in the diagnosis and treatment of depression, primary care provider (PCP) discussion regarding suicidal thoughts among patients with depressive symptoms remains low.ObjectiveTo determine whether a targeted depression public service announcement (PSA) video or an individually tailored interactive multimedia computer program (IMCP) leads to increased primary care provider (PCP) discussion of suicidal thoughts in patients with elevated risk for clinical depression when compared to an attention control.DesignRandomized control trial at five different healthcare systems in Northern California; two academic, two Veterans Affairs (VA), and one group-model health maintenance organization (HMO).ParticipantsEight-hundred sixty-seven participants, with mean age 51.7; 43.9% women, 43.4% from a racial/ethnic minority group.InterventionThe PSA was targeted to gender and socio-economic status, and designed to encourage patients to seek depression care or request information regarding depression. The IMCP was an individually tailored interactive health message designed to activate patients to discuss possible depressive symptoms. The attention control was a sleep hygiene video.Main measuresClinician reported discussion of suicidal thoughts. Analyses were stratified by depressive symptom level (Patient Health Questionnaire [PHQ-9] score
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- 2014
6. ECMO for COVID-19 patients in Europe and Israel
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Lorusso, Roberto, Combes, Alain, Coco, Valeria Lo, De Piero, Maria Elena, Belohlavek, Jan, Delnoij, Thijs, van der Horst, Iwan, Miranda, Dinis Reis, van der Linden, Marcel, van der Heijden, JJ, Scholten, Erik, van Belle-van Haren, Nicole, Lagrand, Wim, de Jong, Sytse, Candura, Dario, Maas, Jacinta, van den Berg, MJ van Gijlswijk, Malfertheiner, Maximilian, Dreier, Esther, Mueller, Thomas, Boeken, Udo, Akhyari, Payam, Lichtenberg, Artur, Saeed, Diyar, Thiele, Holger, Baumgaertel, Matthias, Schmitto, Jan D, Mariani, Silvia, Thielmann, Matthias, Brenner, Thorsten, Benk, Cristoph, Czerny, Martin, Kalbhenn, Johannes, Maier, Sven, Schibilsky, David, Staudacher, Dawid L, Henn, Philipp, Iuliu, Torje, Muellenbach, Ralf, Reyher, Christian, Rolfes, Caroline, Zacharowski, Kai, Lotz, Gosta, Sonntagbauer, Michael, Kersten, Alexander, Karagiannidis, Christian, Schafer, Simone, Fichte, Julia, Hopf, Hans-Bernd, Samalavicius, Robertas, Lorini, Luca, Ghitti, Davide, Grazioli, Lorenzo, Loforte, Antonio, Baiocchi, Massimo, Checco, Erika Dal, Pacini, Davide, Meani, Paolo, Cappai, Antioco, Russo, Claudio Francesco, Bottiroli, Maurizio, Mondino, Michele, Ranucci, Marco, Fina, Dario, Ballotta, Andrea, Scandroglio, Anna Mara, Zangrillo, Alberto, Pieri, Marina, Nardelli, Pasquale, Fominskiy, Evgeny, Landoni, Giovanni, Fanelli, Vito, Brazzi, Luca, Montrucchio, Giorgia, Sales, Gabriele, Simonetti, Umberto, Urbino, Rosario, Livigni, Sergio, Degani, Antonella, Raffa, Giuseppe, Pilato, Michele, Martucci, Gennaro, Arcadipane, Antonio, Chiarini, Giovanni, Latronico, Nicola, Cattaneo, Sergio, Puglia, Carmine, Reina, Gianfranco, Sponga, Sandro, Livi, Ugolino, Foti, Giuseppe, Giani, Marco, Rona, Roberto, Avalli, Leonello, Bombino, Michela, Costa, Maria Cristina, Carozza, Roberto, Donati, Abele, Piciche, Marco, Favaro, Alessandro, Salvador, Loris, Danzi, Vinicio, Zanin, Anita, Condello, Ignazio, Fiore, Flavio, Moscarelli, Marco, Nasso, Giuseppe, Speziale, Giuseppe, Sandrelli, Luca, Montalto, Andrea, Musumeci, Francesco, Circelli, Alessandro, Gamberini, Emiliano, Russo, Emanuele, Benni, Marco, Agnoletti, Vanni, Rociola, Ruggero, Milano, Aldo D, Grasso, Salvatore, Civita, Antonio, Murgolo, Francesco, Pilato, Emanuele, Comentale, Giuseppe, Montisci, Andrea, Alessandri, Francesco, Tosi, Antonella, Pugliese, Francesco, Carelli, Simone, Grieco, Domenico Luca, Antonelli, Massimo, Ramoni, Enrico, Di Nardo, Matteo, Maisano, Francesco, Bettex, Dominique, Weber, Alberto, Grunenfelder, Jurg, Consiglio, Jolanda, Hansjoerg, Jenni, Haenggi, Matthias, Agus, Gianluca, Doeble, Thomas, Zenklusen, Urs, Bechtold, Xavier, Stockman, Bernard, De Backer, Daniel, Giglioli, Simone, Meyns, Bart, Vercaemst, Leen, Herman, Greet, Meersseman, Philippe, Vandenbriele, Christophe, Dauwe, Dieter, Vlasselaers, Dirk, Raes, Matthias, Debeuckelaere, Gerdy, Rodrigus, Inez, Biston, Patrick, Piagnerelli, Michael, Peperstraete, Harlinde, Germay, Olivier, Vandewiele, Korneel, Vandeweghe, Dimitri, Witters, Ine, Havrin, Sven, Bourgeois, Marc, Taccone, Fabio Silvio, Nobile, Leda, Lheureux, Olivier, Brasseur, Alexandre, Creteur, Jacques, Defraigne, Jean-Olivier, Misset, Benoit, Courcelle, Romain, Timmermans, Philippe, Lehaen, Jeroen, Frederik, Bonte, Riera, Jordi, Castro, Miguel angel, Gallart, Elisabet, Martinez-Martinez, Maria, Argudo, Eduard, Garcia-de-Acilu, Marina, de Pablo Sanchez, Raul, Ortiz, Aaron Blandino, Cabanes, Mari-Paz Fuset, Higa, Karina Osorio, Cassina, Albert Miralles, Berbel, Daniel Ortiz, Sanchez-Salado, Jose Carlos, Arnau, Blasco-Lucas, de Gopegui, Pablo Ruiz, Ricart, Pilar, Sandoval, Elena, Veganzones, Javier, Millan, Pablo, de la Sota, Perez, Santa Teresa, Patricia, Alcantara, Sara, Alvarez, Jorge Duerto, Gonzalez, Anxela Vidal, Lopez, Marta, Gordillo, Antonio, Naranjo-Izurieta, Jose, Costa, Ricardo Gimeno, Albacete Moreno, Carlos L, de Ayala, Jose angel, Blanco-Schweizer, Pablo, Andres, Nicolas Hidalgo, Boado, Victoria, Martinez, Jose Maria Nunez, Casal, Vanesa Gomez, Garcia, Esperanza Fernandez, Martin-Villen, Luis, Climent, Joaquin Colomina, Pinto, Luis F, Leprince, Pascal, Lebreton, Guillaume, Juvin, Charles, Schmidt, Matthieu, Pineton, Marc, Folliguet, Thierry, Saiydoun, Gabriel, Gaudard, Philippe, Colson, Pascal, Obadia, Jean-Francois, Pozzi, Matteo, Fellahi, Jean Luc, Yonis, Hodane, Richard, Jean Christophe, Parasido, Alessandro, Verhoye, Jean-Philippe, Flecher, Erwan, Ajrhourh, Lucrezia, Nesseler, Nicolas, Mansour, Alexandre, Guinot, Pierre-Gregoire, Zarka, Jonathan, Besserve, Patricia, Makhoul, Maged, Bolotin, Gil, Kassif, Yigal, Soufleris, Dimitros, Schellongowski, Peter, Bonaros, Nikolaos, Krapf, Christoph, Ebert, Kathrin, Mair, Peter, Kothleutner, Florian, Kowalewsky, Mariusz, Christensen, Steffen, Pedersen, Finn Moller, Balik, Martin, Blaha, Jan, Lips, Michal, Otahal, Michal, Camporota, Luigi, Daly, Kathleen, Agnew, Nicola, Barker, Julian, Head, Laura, Garcia, Miguel, Ledot, Stephane, Aquino, Verna, Lewis, Rebecca, Worthy, Jennifer, Noor, Hamza, Scott, Ian, O'Brien, Serena, Conrick-Martin, Ian, Carton, Edmund, Gillon, Stuart, Flemming, Lucy, Broman, Lars Mikael, Grins, Edgars, Ketskalo, Michail, Tsarenko, Sergey, Popugaev, Konstantin, Minin, Sergei, Kornilov, Igor, Skopets, Alexander, Kornelyuk, Roman, Turchaninov, Alexandr, Gorjup, Vojka, Shelukhin, Daniil, Dsouki, Youssef El, Sargin, Murat, Kaygin, Mehmet Ali, Liana, Shestakova, Puss, Severin, Soerensen, Gro, Magnus, Rosen, Kanetoft, Mikael, Watson, Pia, Redfors, Bengt, Krenner, Niklas, Velia Antonini, M, Barrett, Nicholas A, Belliato, Mirko, Davidson, Mark, Finney, Simon, Fowles, Jo-Anne, Halbe, Maximilian, Hennig, Felix, Jones, Tim, Pinto, Luis, Smith, Jonathan, Roeleveld, Peter, Swol, Justyna, Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Cardiovascular Research Institute Maastricht (CARIM), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), First Faculty of Medicine Charles University [Prague], Intensive Care Medicine, AII - Inflammatory diseases, ANS - Neuroinfection & -inflammation, EuroECMO COVID-19 Working Group, Euro-ELSO Steering Committee, Lorusso, Roberto, Combes, Alain, Coco, Valeria Lo, De Piero, Maria Elena, Belohlavek, Jan (EuroECMO COVID-19, Workinggroup, Euro-ELSO Steering, Committee), Zangrillo, A, Landoni, G, CTC, MUMC+: MA Med Staf Spec CTC (9), RS: Carim - V04 Surgical intervention, MUMC+: MA Alg Ond Onderz CTC (9), Lorusso, R, Combes, A, Coco, V, De Piero, M, Belohlavek, J, Delnoij, T, van der Horst, I, Miranda, D, van der Linden, M, van der Heijden, J, Scholten, E, van Belle-van Haren, N, Lagrand, W, de Jong, S, Candura, D, Maas, J, van den Berg, M, Malfertheiner, M, Dreier, E, Mueller, T, Boeken, U, Akhyari, P, Lichtenberg, A, Saeed, D, Thiele, H, Baumgaertel, M, Schmitto, J, Mariani, S, Thielmann, M, Brenner, T, Benk, C, Czerny, M, Kalbhenn, J, Maier, S, Schibilsky, D, Staudacher, D, Henn, P, Iuliu, T, Muellenbach, R, Reyher, C, Rolfes, C, Zacharowski, K, Lotz, G, Sonntagbauer, M, Kersten, A, Karagiannidis, C, Schafer, S, Fichte, J, Hopf, H, Samalavicius, R, Lorini, L, Ghitti, D, Grazioli, L, Loforte, A, Baiocchi, M, Checco, E, Pacini, D, Meani, P, Cappai, A, Russo, C, Bottiroli, M, Mondino, M, Ranucci, M, Fina, D, Ballotta, A, Scandroglio, A, Pieri, M, Nardelli, P, Fominskiy, E, Fanelli, V, Brazzi, L, Montrucchio, G, Sales, G, Simonetti, U, Urbino, R, Livigni, S, Degani, A, Raffa, G, Pilato, M, Martucci, G, Arcadipane, A, Chiarini, G, Latronico, N, Cattaneo, S, Puglia, C, Reina, G, Sponga, S, Livi, U, Foti, G, Giani, M, Rona, R, Avalli, L, Bombino, M, Costa, M, Carozza, R, Donati, A, Piciche, M, Favaro, A, Salvador, L, Danzi, V, Zanin, A, Condello, I, Fiore, F, Moscarelli, M, Nasso, G, Speziale, G, Sandrelli, L, Montalto, A, Musumeci, F, Circelli, A, Gamberini, E, Russo, E, Benni, M, Agnoletti, V, Rociola, R, Milano, A, Grasso, S, Civita, A, Murgolo, F, Pilato, E, Comentale, G, Montisci, A, Alessandri, F, Tosi, A, Pugliese, F, Carelli, S, Grieco, D, Antonelli, M, Ramoni, E, Di Nardo, M, Maisano, F, Bettex, D, Weber, A, Grunenfelder, J, Consiglio, J, Hansjoerg, J, Haenggi, M, Agus, G, Doeble, T, Zenklusen, U, Bechtold, X, Stockman, B, De Backer, D, Giglioli, S, Meyns, B, Vercaemst, L, Herman, G, Meersseman, P, Vandenbriele, C, Dauwe, D, Vlasselaers, D, Raes, M, Debeuckelaere, G, Rodrigus, I, Biston, P, Piagnerelli, M, Peperstraete, H, Germay, O, Vandewiele, K, Vandeweghe, D, Witters, I, Havrin, S, Bourgeois, M, Taccone, F, Nobile, L, Lheureux, O, Brasseur, A, Creteur, J, Defraigne, J, Misset, B, Courcelle, R, Timmermans, P, Lehaen, J, Frederik, B, Riera, J, Castro, M, Gallart, E, Martinez-Martinez, M, Argudo, E, Garcia-de-Acilu, M, de Pablo Sanchez, R, Ortiz, A, Cabanes, M, Higa, K, Cassina, A, Berbel, D, Sanchez-Salado, J, Arnau, B, de Gopegui, P, Ricart, P, Sandoval, E, Veganzones, J, Millan, P, de la Sota, P, Santa Teresa, P, Alcantara, S, Alvarez, J, Gonzalez, A, Lopez, M, Gordillo, A, Naranjo-Izurieta, J, Costa, R, Albacete Moreno, C, de Ayala, J, Blanco-Schweizer, P, Andres, N, Boado, V, Martinez, J, Casal, V, Garcia, E, Martin-Villen, L, Climent, J, Pinto, L, Leprince, P, Lebreton, G, Juvin, C, Schmidt, M, Pineton, M, Folliguet, T, Saiydoun, G, Gaudard, P, Colson, P, Obadia, J, Pozzi, M, Fellahi, J, Yonis, H, Richard, J, Parasido, A, Verhoye, J, Flecher, E, Ajrhourh, L, Nesseler, N, Mansour, A, Guinot, P, Zarka, J, Besserve, P, Makhoul, M, Bolotin, G, Kassif, Y, Soufleris, D, Schellongowski, P, Bonaros, N, Krapf, C, Ebert, K, Mair, P, Kothleutner, F, Kowalewsky, M, Christensen, S, Pedersen, F, Balik, M, Blaha, J, Lips, M, Otahal, M, Camporota, L, Daly, K, Agnew, N, Barker, J, Head, L, Garcia, M, Ledot, S, Aquino, V, Lewis, R, Worthy, J, Noor, H, Scott, I, O'Brien, S, Conrick-Martin, I, Carton, E, Gillon, S, Flemming, L, Broman, L, Grins, E, Ketskalo, M, Tsarenko, S, Popugaev, K, Minin, S, Kornilov, I, Skopets, A, Kornelyuk, R, Turchaninov, A, Gorjup, V, Shelukhin, D, Dsouki, Y, Sargin, M, Kaygin, M, Liana, S, Puss, S, Soerensen, G, Magnus, R, Kanetoft, M, Watson, P, Redfors, B, Krenner, N, Velia Antonini, M, Barrett, N, Belliato, M, Davidson, M, Finney, S, Fowles, J, Halbe, M, Hennig, F, Jones, T, Smith, J, Roeleveld, P, Swol, J, Lorusso R., Combes A., Coco V.L., De Piero M.E., and Belohlavek J, EuroECMO COVID-19 WorkingGroup, and Euro-ELSO Steering Committee, Pacini D
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2019-20 coronavirus outbreak ,medicine.medical_specialty ,Letter ,Coronavirus disease 2019 (COVID-19) ,Pain medicine ,medicine.medical_treatment ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,[SDV]Life Sciences [q-bio] ,MEDLINE ,610 Medicine & health ,030204 cardiovascular system & hematology ,Critical Care and Intensive Care Medicine ,03 medical and health sciences ,Extracorporeal Membrane Oxygenation ,covid, ecmo, respiratory failure ,0302 clinical medicine ,Critical Care Medicine ,General & Internal Medicine ,Anesthesiology ,medicine ,Extracorporeal membrane oxygenation ,Humans ,Israel ,ComputingMilieux_MISCELLANEOUS ,Science & Technology ,business.industry ,COVID-19 ,030208 emergency & critical care medicine ,3. Good health ,Europe ,Emergency medicine ,Human medicine ,ECMO ,business ,Life Sciences & Biomedicine ,Human - Abstract
ispartof: INTENSIVE CARE MEDICINE vol:47 issue:3 pages:344-348 ispartof: location:United States status: published
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- 2021
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7. Solving unsolved rare neurological diseases-a Solve-RD viewpoint
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Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E., Reichbauer, Jennifer, Wayand, Melanie, Solve-RD-DITF-RND Baets Jonathan Balicza Peter Chinnery Patrick Dürr Alexandra Haack Tobias Hengel Holger Horvath Rita Houlden Henry Kamsteeg Erik-Jan Kamsteeg Christoph Lohmann Katja Macaya Alfons Marcé-Grau Anna Maver Ales Molnar Judit Münchau Alexander Peterlin Borut Riess Olaf Schöls Ludger European Reference Network for Rare Neurological Diseases, Tübingen, Germany Schüle Rebecca European Reference Network for Rare Neurological Diseases, Tübingen, Germany Stevanin Giovanni Synofzik Matthis European Reference Network for Rare Neurological Diseases, Tübingen, Germany Timmerman Vincent van de Warrenburg Bart Department of Neurology, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands van Os Nienke Vandrovcova Jana Wayand Melanie German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany Wilke Carlo German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany, Baets, Jonathan, Balicza, Peter, Chinnery, Patrick, Dürr, Alexandra, Haack, Tobias, Hengel, Holger, Horvath, Rita, Houlden, Henry, Kamsteeg, Erik-Jan, Kamsteeg, Christoph, Lohmann, Katja, Macaya, Alfons, Marcé-Grau, Anna, Maver, Ales, Molnar, Judit, Münchau, Alexander, Peterlin, Borut, Riess, Olaf, Schöls, Ludger, Stevanin, Giovanni, Synofzik, Matthis, Timmerman, Vincent, van de Warrenburg, Bart, van Os, Nienke, Vandrovcova, Jana, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, The Solve-RD Consortium Graessner Holm Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany Zurek Birte Ellwanger Kornelia Ossowski Stephan Demidov German Sturm Marc Schulze-Hentrich Julia M. Heutink Peter Brunner Han Scheffer Hans Hoogerbrugge Nicoline Hoischen Alexander ’t Hoen Peter A. C. Vissers Lisenka E. L. M. Gilissen Christian Steyaert Wouter Sablauskas Karolis de Voer Richarda M. Janssen Erik de Boer Elke Steehouwer Marloes Yaldiz Burcu Kleefstra Tjitske Brookes Anthony J. Veal Colin Gibson Spencer Wadsley Marc Mehtarizadeh Mehdi Riaz Umar Warren Greg Dizjikan Farid Yavari Shorter Thomas Töpf Ana Straub Volker Bettolo Chiara Marini Specht Sabine Clayton-Smith Jill Banka Siddharth Alexander Elizabeth Jackson Adam Faivre Laurence Thauvin Christel Vitobello Antonio Denommé-Pichon Anne-Sophie Duffourd Yannis Tisserant Emilie Bruel Ange-Line Peyron Christine Pélissier Aurore Beltran Sergi Facultat de Biologia, Departament de Genètica, Microbiologia i Estadística, Universitat de Barcelona (UB), Barcelona, Spain Gut Ivo Glynne Laurie Steven CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain Piscia Davide Matalonga Leslie CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain Papakonstantinou Anastasios Bullich Gemma Corvo Alberto Garcia Carles Fernandez-Callejo Marcos Hernández Carles Picó Daniel Paramonov Ida Lochmüller Hanns Gumus Gulcin Bros-Facer Virginie Rath Ana Hanauer Marc Olry Annie Lagorce David Havrylenko Svitlana Izem Katia Rigour Fanny Durr Alexandra Davoine Claire-Sophie Guillot-Noel Léna Heinzmann Anna Coarelli Giulia Bonne Gisèle Evangelista Teresinha Allamand Valérie Nelson Isabelle Yaou Rabah Ben Metay Corinne Eymard Bruno Cohen Enzo Atalaia Antonio Stojkovic Tanya Macek Milan Jr. Turnovec Marek Thomasová Dana Kremliková Radka Pourová Franková Vera Havlovicová Markéta Kremlik Vlastimil Parkinson Helen Keane Thomas Spalding Dylan Senf Alexander Robinson Peter Danis Daniel Robert Glenn Costa Alessia Patch Christine Hanna Mike Houlden Henry Reilly Mary Vandrovcova Jana Muntoni Francesco Zaharieva Irina Sarkozy Anna de Jonghe Peter Nigro Vincenzo Banfi Sandro Torella Annalaura Musacchia Francesco Piluso Giulio Ferlini Alessandra Selvatici Rita Rossi Rachele Neri Marcella Aretz Stefan Spier Isabel Sommer Anna Katharina Peters Sophia Oliveira Carla Pelaez Jose Garcia Matos Ana Rita José Celina São Ferreira Marta Gullo Irene Fernandes Susana Garrido Luzia Ferreira Pedro Carneiro Fátima Swertz Morris A. Johansson Lennart van der Velde Joeri K. van der Vries Gerben Neerincx Pieter B. Roelofs-Prins Dieuwke Köhler Sebastian Metcalfe Alison Verloes Alain Drunat Séverine Rooryck Caroline Trimouille Aurelien Castello Raffaele Morleo Manuela Pinelli Michele Varavallo Alessandra De la Paz Manuel Posada Sánchez Eva Bermejo Martín Estrella López Delgado Beatriz Martínez de la Rosa F. Javier Alonso García Ciolfi Andrea Dallapiccola Bruno Pizzi Simone Radio Francesca Clementina Tartaglia Marco Renieri Alessandra Benetti Elisa Balicza Peter Molnar Maria Judit Maver Ales Peterlin Borut Münchau Alexander Lohmann Katja Herzog Rebecca Pauly Martje Macaya Alfons Marcé-Grau Anna Osorio Andres Nascimiento de Benito Daniel Natera Lochmüller Hanns Thompson Rachel Polavarapu Kiran Beeson David Cossins Judith Cruz Pedro M. Rodriguez Hackman Peter Johari Mridul Savarese Marco Udd Bjarne Horvath Rita Capella Gabriel Valle Laura Holinski-Feder Elke Laner Andreas Steinke-Lange Verena Schröck Evelin Rump Andreas, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Gut, Ivo Glynne, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Spalding, Dylan, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Reilly, Mary, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, de Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Molnar, Maria Judit, Herzog, Rebecca, Pauly, Martje, Osorio, Andres Nascimiento, de Benito, Daniel Natera, Thompson, Rachel, Polavarapu, Kiran, Beeson, David, Cossins, Judith, Cruz, Pedro M. Rodriguez, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Solve-RD-DITF-RND, Solve-RD Consortium, Schule, R., Timmann, D., Erasmus, C. E., Reichbauer, J., Wayand, M., van de Warrenburg, B., Schols, L., Wilke, C., Bevot, A., Zuchner, S., Beltran, S., Laurie, S., Matalonga, L., Graessner, H., Synofzik, M., Nigro, V., Banfi, S., Torella, A., Piluso, G., Medicum, University of Helsinki, Department of Medical and Clinical Genetics, Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Wilke, Carlo [0000-0002-7250-8597], Beltran, Sergi [0000-0002-2810-3445], Laurie, Steven [0000-0003-3913-5829], Graessner, Holm [0000-0001-9803-7183], Synofzik, Matthis [0000-0002-2280-7273], and Apollo - University of Cambridge Repository
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genetics [Rare Diseases] ,lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4] ,Medizin ,Datasets as Topic ,0302 clinical medicine ,Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] ,Medicine ,Genetics (clinical) ,0303 health sciences ,methods [Genomics] ,Management science ,Neurodevelopmental disorders ,Neurodegenerative diseases ,030305 genetics & heredity ,1184 Genetics, developmental biology, physiology ,Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] ,Genomics ,Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] ,genetics [Nervous System Diseases] ,3. Good health ,Chemistry ,Practice Guidelines as Topic ,Malalties rares ,pathology [Rare Diseases] ,methods [Genetic Testing] ,Movement disorders ,Other Research Donders Center for Medical Neuroscience [Radboudumc 0] ,Socio-culturale ,standards [Exome Sequencing] ,standards [Genetic Testing] ,pathology [Nervous System Diseases] ,03 medical and health sciences ,Rare Diseases ,Viewpoint ,Exome Sequencing ,Genetics ,Humans ,Genetic Testing ,ddc:610 ,Biology ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,business.industry ,Sistema nerviós -- Malalties ,methods [Exome Sequencing] ,standards [Genomics] ,3111 Biomedicine ,Human medicine ,Nervous System Diseases ,business ,Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19] ,030217 neurology & neurosurgery - Abstract
Rare genetic neurological disorders (RND; ORPHA:71859) are a heterogeneous group of disorders comprising >1700 distinct genetic disease entities. However, genetic discoveries have not yet translated into dramatic increases of diagnostic yield and indeed rates of molecular genetic diagnoses have been stuck at about 30–50% across NGS modalities and RND phenotypes [1, 2]. Existence of yet unknown disease genes as well as shortcomings of commonly employed NGS technologies and analysis pipelines in detecting certain variant types are typically cited to explain the low diagnosis rates. To increase the diagnostic yield in RNDs - one of the four focus disease groups in Solve-RD - we follow two major approaches, that we will here present and exemplify: (i) systematic state-of the art re-analysis of large cohorts of unsolved whole-exome/genome sequencing (WES/WGS) RND datasets; and (ii) novel-omics approaches. Based on the way Solve-RD systematically organizes researchers’ expertise to channel this approach [3], the European Reference Network for Rare Neurological Diseases (ERN-RND) has established its own Data Interpretation Task Force (DITF) within SOLVE-RD, which is currently composed of clinical and genetic experts from 29 sites in 15 European countries. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation programme under Grant Agreement No. 779257. Data were analysed using the RD‐Connect Genome‐Phenome Analysis Platform, which received funding from EU projects RD‐Connect, Solve-RD and EJP-RD (Grant Numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (Grant Numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática, INB) and ELIXIR Implementation Studies. The study was further funded by the Federal Ministry of Education and Research, Germany, through the TreatHSP network (01GM1905 to RS and LS), the National Institute of Neurological Diseases and Stroke (R01NS072248 to SZ and RS), the European Joint Program on Rare Diseases-EJP-RD COFUND-EJP N° 825575 through funding for the PROSPAX consortium (441409627 to MS, RS and BvW). CW was supported by the PATE program of the Medical Faculty, University of Tübingen. CEE received support from the Dutch Princess Beatrix Muscle Fund and the Dutch Spieren voor Spieren Muscle fund. Authors on this paper are members of the European Reference Network for Rare Neurological Diseases (ERN-RND, Project ID 739510)
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- 2021
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8. Long-term secondary prevention of cardiovascular disease with a Mediterranean diet and a low-fat diet (CORDIOPREV): a randomised controlled trial
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Delgado-Lista J., Alcala-Diaz J.F., Torres-Peña J.D., Quintana-Navarro G.M., Fuentes F., Garcia-Rios A., Ortiz-Morales A.M., Perez-Caballero A.I., Yubero-Serrano E.M., Rangel-Zuñiga O.A., Camargo A., Rodriguez-Cantalejo F., Lopez-Segura F., Badimon L., Ordovas J.M., Perez-Jimenez F., Perez-Martinez P., Lopez-Miranda J., Almaden Peña Y., Aranda E., Arenas de Larriva A.P., Badimon J.J., Blanco-Molina A., Blanco-Rojo R., Bolivar-Muñoz J., Caballero-Villarraso J., Chica J., Corina A., Criado-Garcia J., Cruz-Teno C., Daponte-Codina A., de Teresa Galvan E., Delgado-Casado N., Estruch R., Fernandez J.M., Fernandez-Gandara C., Fuentes-Jimenez F., Garcia-Carpintero Fernandez-Pacheco S., Gomez-Delgado F., Gomez-Garduño A., Gomez-Luna P., Gomez-Luna M.J., Gonzalez-Guardia L., Gonzalez-Requero A.I., Gutierrez-Mariscal F.M., Haro-Mariscal C.M., Jimenez-Lucena R., Jimenez-Morales A.I., Leon-Acuña A., Marin-Hinojosa C., Meneses Alvarez M.E., Mesa-Luna D., Moya-Garrido M.N., Muñoz-Carvajal I., Navarro-Martos V., Ochoa J.J., Ortiz-Minuesa J.A., Pan M., Peña-Orihuela P., Perez-Corral I., Pi-Sunyer F.X., Ramirez-Lara I., Rodriguez-Artalejo F., Romero M.A., Roncero-Ramos I., Ruano-Ruiz J.A., Ruiz de Castroviejo J., Sanchez-Villegas P., Suarez de Lezo J., Vals-Delgado C., Valverde R., and Visioli F.
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Male ,age distribution ,heart infarction ,low fat diet ,intention to treat analysis ,university hospital ,Diet, Mediterranean ,Article ,Brain Ischemia ,hazard ratio ,cardiovascular disease ,Mediterranean diet ,middle aged ,ischemic stroke ,Secondary Prevention ,follow up ,Humans ,controlled study ,heart death ,human ,procedures ,Diet, Fat-Restricted ,comparative study ,single blind procedure ,dietitian ,long term care ,physician ,adult ,ischemic heart disease ,major clinical study ,Stroke ,aged ,female ,confidence interval ,Spain ,Cardiovascular Diseases ,randomized controlled trial ,cerebrovascular accident ,peripheral occlusive artery disease - Abstract
Background: Mediterranean and low-fat diets are effective in the primary prevention of cardiovascular disease. We did a long-term randomised trial to compare the effects of these two diets in secondary prevention of cardiovascular disease. Methods: The CORDIOPREV study was a single-centre, randomised clinical trial done at the Reina Sofia University Hospital in Córdoba, Spain. Patients with established coronary heart disease (aged 20–75 years) were randomly assigned in a 1:1 ratio by the Andalusian School of Public Health to receive a Mediterranean diet or a low-fat diet intervention, with a follow-up of 7 years. Clinical investigators (physicians, investigators, and clinical endpoint committee members) were masked to treatment assignment; participants were not. A team of dietitians did the dietary interventions. The primary outcome (assessed by intention to treat) was a composite of major cardiovascular events, including myocardial infarction, revascularisation, ischaemic stroke, peripheral artery disease, and cardiovascular death. This study is registered with ClinicalTrials.gov, NCT00924937. Findings: From Oct 1, 2009, to Feb 28, 2012, a total of 1002 patients were enrolled, 500 (49·9%) in the low-fat diet group and 502 (50·1%) in the Mediterranean diet group. The mean age was 59·5 years (SD 8·7) and 827 (82·5%) of 1002 patients were men. The primary endpoint occurred in 198 participants: 87 in the Mediterranean diet group and 111 in the low-fat group (crude rate per 1000 person-years: 28·1 [95% CI 27·9–28·3] in the Mediterranean diet group vs 37·7 [37·5–37·9] in the low-fat group, log-rank p=0·039). Multivariable-adjusted hazard ratios (HRs) of the different models ranged from 0·719 (95% CI 0·541–0·957) to 0·753 (0·568–0·998) in favour of the Mediterranean diet. These effects were more evident in men, with primary endpoints occurring in 67 (16·2%) of 414 men in the Mediterranean diet group versus 94 (22·8%) of 413 men in the low-fat diet group (multiadjusted HR 0·669 [95% CI 0·489–0·915], log-rank p=0·013), than in 175 women for whom no difference was found between groups. Interpretation: In secondary prevention, the Mediterranean diet was superior to the low-fat diet in preventing major cardiovascular events. Our results are relevant to clinical practice, supporting the use of the Mediterranean diet in secondary prevention. Funding: Fundacion Patrimonio Comunal Olivarero; Fundacion Centro para la Excelencia en Investigacion sobre Aceite de Oliva y Salud; local, regional, and national Spanish Governments; European Union. © 2022 Elsevier Ltd
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- 2022
9. Impact of blood levels of progesterone on the day of ovulation onset on clinical, laboratory and reproductive parameters of young patients undergoing assisted reproduction: a cross-sectional study
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Renata Garcia Olmos Fernandez, Caio Parente Barbosa, Denise Maria Christofolini, Luiz Vinicius de Alcantara Sousa, Renato de Oliveira, and Bianca Bianco
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Ovulation ,endocrine system ,Reproductive Techniques, Assisted ,Fertilization in vitro ,Reproduction ,General Medicine ,Chorionic Gonadotropin ,Chorionic gonadotropin ,Cross-Sectional Studies ,Pregnancy ,Infertility ,embryonic structures ,Humans ,Female ,Progesterone - Abstract
Objective: To assess whether there is an association between the level of progesterone on the day of administration of human chorionic gonadotropin and clinical and laboratory characteristics, in addition to the results of in vitro fertilization of patients with a good prognosis. Methods: A cross-sectional study comprising 103 women who underwent intracytoplasmic sperm injection treatment, between November 2009 and May 2015, aged ≤35 years, with no comorbidities, with fresh embryo transfer. Data were collected from patient medical records. Results: There was a weak positive correlation between the level of progesterone on the day of human chorionic gonadotropin and the number of follicles larger than 14mm (ß=0.02, p=0.001), retrieved oocytes (ß=0.01, p=0.01) and oocytes in metaphase II (MII) (ß=0.02, p=0.02); that is, the increase in progesterone level has a slight association with increased values of these variables. Body mass index was inversely correlated with progesterone level on the day of human chorionic gonadotropin (ß=-0.01, p=0.02). No association was found between the level of progesterone on the day of human chorionic gonadotropin and the protocols used for controlled ovarian stimulation, quality of transferred embryos and the pregnancy rate. Conclusion: There is an association between the value of progesterone on the day of human chorionic gonadotropin administration with body mass index, number of follicles larger than 14mm, number of retrieved oocytes and oocytes in metaphase II. Unlike embryo quality and pregnancy rate, which do not have a statistically significant relation with this value in the population studied.
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- 2022
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10. Long-term secondary prevention of cardiovascular disease with a Mediterranean diet and a low-fat diet (CORDIOPREV): a randomised controlled trial
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Javier Delgado-Lista, Juan F Alcala-Diaz, Jose D Torres-Peña, Gracia M Quintana-Navarro, Francisco Fuentes, Antonio Garcia-Rios, Ana M Ortiz-Morales, Ana I Gonzalez-Requero, Ana I Perez-Caballero, Elena M Yubero-Serrano, Oriol A Rangel-Zuñiga, Antonio Camargo, Fernando Rodriguez-Cantalejo, Fernando Lopez-Segura, Lina Badimon, Jose M Ordovas, Francisco Perez-Jimenez, Pablo Perez-Martinez, Jose Lopez-Miranda, Yolanda Almaden Peña, Enrique Aranda, Antonio P Arenas de Larriva, Juan J Badimon, Angeles Blanco-Molina, Ruth Blanco-Rojo, Julia Bolivar-Muñoz, Javier Caballero-Villarraso, Javier Chica, Andreea Corina, Juan Criado-Garcia, Cristina Cruz-Teno, Antonio Daponte-Codina, Eduardo de Teresa Galvan, Nieves Delgado-Casado, Ramon Estruch, Juan M Fernandez, Carolina Fernandez-Gandara, Francisco Fuentes-Jimenez, Sonia Garcia-Carpintero Fernandez-Pacheco, Francisco Gomez-Delgado, Angela Gomez-Garduño, Purificacion Gomez-Luna, Maria J Gomez-Luna, Lorena Gonzalez-Guardia, Ana I. Gonzalez-Requero, Francisco M Gutierrez-Mariscal, Carmen M Haro-Mariscal, Rosa Jimenez-Lucena, Ana I. Jimenez-Morales, Ana Leon-Acuña, Carmen Marin-Hinojosa, Maria E Meneses Alvarez, Dolores Mesa-Luna, Maria N Moya-Garrido, Ignacio Muñoz-Carvajal, Vanessa Navarro-Martos, Juan J Ochoa, Juan A Ortiz-Minuesa, Manuel Pan, Patricia Peña-Orihuela, Isabel Perez-Corral, Francesc X Pi-Sunyer, Irene Ramirez-Lara, Fernando Rodriguez-Artalejo, Miguel A Romero, Irene Roncero-Ramos, Juan A. Ruano-Ruiz, Joaquin Ruiz de Castroviejo, Pablo Sanchez-Villegas, Jose Suarez de Lezo, Javier Suarez de Lezo, Cristina Vals-Delgado, Roberto Valverde, and Francisco Visioli
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Male ,Stroke ,Cardiovascular Diseases ,Secondary Prevention ,Humans ,Female ,General Medicine ,Middle Aged ,Diet, Mediterranean ,Diet, Fat-Restricted ,Brain Ischemia - Abstract
Mediterranean and low-fat diets are effective in the primary prevention of cardiovascular disease. We did a long-term randomised trial to compare the effects of these two diets in secondary prevention of cardiovascular disease.The CORDIOPREV study was a single-centre, randomised clinical trial done at the Reina Sofia University Hospital in Córdoba, Spain. Patients with established coronary heart disease (aged 20-75 years) were randomly assigned in a 1:1 ratio by the Andalusian School of Public Health to receive a Mediterranean diet or a low-fat diet intervention, with a follow-up of 7 years. Clinical investigators (physicians, investigators, and clinical endpoint committee members) were masked to treatment assignment; participants were not. A team of dietitians did the dietary interventions. The primary outcome (assessed by intention to treat) was a composite of major cardiovascular events, including myocardial infarction, revascularisation, ischaemic stroke, peripheral artery disease, and cardiovascular death. This study is registered with ClinicalTrials.gov, NCT00924937.From Oct 1, 2009, to Feb 28, 2012, a total of 1002 patients were enrolled, 500 (49·9%) in the low-fat diet group and 502 (50·1%) in the Mediterranean diet group. The mean age was 59·5 years (SD 8·7) and 827 (82·5%) of 1002 patients were men. The primary endpoint occurred in 198 participants: 87 in the Mediterranean diet group and 111 in the low-fat group (crude rate per 1000 person-years: 28·1 [95% CI 27·9-28·3] in the Mediterranean diet group vs 37·7 [37·5-37·9] in the low-fat group, log-rank p=0·039). Multivariable-adjusted hazard ratios (HRs) of the different models ranged from 0·719 (95% CI 0·541-0·957) to 0·753 (0·568-0·998) in favour of the Mediterranean diet. These effects were more evident in men, with primary endpoints occurring in 67 (16·2%) of 414 men in the Mediterranean diet group versus 94 (22·8%) of 413 men in the low-fat diet group (multiadjusted HR 0·669 [95% CI 0·489-0·915], log-rank p=0·013), than in 175 women for whom no difference was found between groups.In secondary prevention, the Mediterranean diet was superior to the low-fat diet in preventing major cardiovascular events. Our results are relevant to clinical practice, supporting the use of the Mediterranean diet in secondary prevention.Fundacion Patrimonio Comunal Olivarero; Fundacion Centro para la Excelencia en Investigacion sobre Aceite de Oliva y Salud; local, regional, and national Spanish Governments; European Union.
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- 2022
11. Initial Invasive or Conservative Strategy for Stable Coronary Disease
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Maron D. J., Hochman J. S., Reynolds H. R., Bangalore S., O'Brien S. M., Boden W. E., Chaitman B. R., Senior R., Lopez-Sendon J., Alexander K. P., Lopes R. D., Shaw L. J., Berger J. S., Newman J. D., Sidhu M. S., Goodman S. G., Ruzyllo W., Gosselin G., Maggioni A. P., White H. D., Bhargava B., Min J. K., John Mancini G. B., Berman D. S., Picard M. H., Kwong R. Y., Ali Z. A., Mark D. B., Spertus J. A., Krishnan M. N., Elghamaz A., Moorthy N., Hueb W. A., Demkow M., Mavromatis K., Bockeria O., Peteiro J., Miller T. D., Szwed H., Doerr R., Keltai M., Selvanayagam J. B., Gabriel Steg P., Held C., Kohsaka S., Mavromichalis S., Kirby R., Jeffries N. O., Harrell F. E., Rockhold F. W., Broderick S., Bruce Ferguson T., Williams D. O., Harrington R. A., Stone G. W., Rosenberg Y, ISCHEMIA Research Group: Joseph Ricci, A Tello Montoliu, A I Robero Aniorte, Abbey Mulder, Abhay A Laddu, Abhinav Goyal, Abhishek Dubey, Abhishek Goyal, Abigail Knighton, Abraham Oomman, Adam J Jaskowiak, Adam Kolodziej, Adam Witkowski, Adnan Hameed, Adriana Anesini, Afshan Hussain, Agne Juceviciene, Agne Urboniene, Agnes Jakal, Agnieszka Szramowska, Ahmad Khairuddin, Ahmed Abdel-Latif, Ahmed Adel, Ahmed Aljzeeri, Ahmed Kamal, Ahmed Talaat, Aimee Mann, Aira Contreras, Ajit Kumar, V K Kumar, Akemi Furukawa, Akshay Bagai, Akvile Smigelskaite, Alain Furber, Alain Rheault, Alaine Melanie Loehr, Alan Rosen, Albert Varga, Albertina Qelaj, Alberto Barioli, Aldo Russo, Alec Moorman, Alejandro Gisbert, Aleksandra Fratczak, Aleksandras Laucevicius, Alena Kuleshova, Alessandro Sionis, Alexander A Sirker, Alexander M Chernyavskiy, Alexandra Craft, Alexandra Vazquez, Alexandre Ciappina Hueb, Alexandre S Colafranseschi, Alexandre Schaan de Quadros, Alexandre Tognon, Ali Alghamdi, Alice Manica Muller, Aline Nogueira Rabaça, Aline Peixoto Deiro, Alison Hallam, Allegra Stone, Allison Schley, Almudena Castro, Alvaro Rabelo Ales, Amanda Germann, Amanda O'Malley, Amar Uxa, Amarachi Ojajuni, Amarino C Oliveira Jr, Amber B Hull, Ambuj Roy, Amer Zarka, Amir Janmohamed, Ammani Brown, Ammy Malinay, Amparo Martinez Monzonis, Amy J Richards, Amy Iskandrian, Amy Ollinger, Ana D Djordjevic-Dikic, Ana Fernández Martínez, Ana Gomes Almeida, Ana Paula Batista, Ana Rita Francisco, Ana S Mladenovic, Ana Santana, Anam Siddiqui, Anastasia M Kuzmina-Krutetskaya, Andras Vertes, Andre S Sousa, Andre Gabriel, André Schmidt, Andrea M Lundeen, Andrea Bartykowszki, Andrea Lorimer, Andrea Mortara, Andrea Pascual, Andreia Coelho, Andreia Rocha, Andrés García-Rincón, Andrew G Howarth, Andrew J Moriarty, Andrew Docherty, Andrew Starovoytov, Andrew Zurick, Andrzej Łabyk, Andrzej Swiatkowski, Andy Lam, Anelise Kawakami, Angela Hoye, Angela Kim, Angelique Smit, Angelo Nobre, Anil V Shah, Anja Ljubez, Anjali Anand, Ankush Sachdeva, Ann Greenberg, Ann Luyten, Ann Ostrander, Anna Di Donato, Anna Cichocka-Radwan, Anna Fojt, Anna Plachcinska, Anna Proietti, Anna Teresinska, Anne Marie Webb, Anne Cartwright, Anne Heath, Anne Mackin, Anong Amaritakomol, Anong Chaiyasri, Anoop Chauhan, Anoop Mathew, Anthony Gemignani, Anto Luigi Andres, Antonia Vega, Antonietta Hansen, Antonino Ginel Iglesias, Antonio Carlos Carvalho, Antonio Di Chiara, Antonio Serra Peñaranda, Antonio Carvalho, Antonio Colombo, Antonio Fiarresga, Anupama Rao, Aquiles Valdespino-Estrada, Araceli Boan, Areef Ishani, Ariel Diaz, Arijit Ghosh, Arintaya Prommintikul, Arline Roberts, Arnold H Seto, Arnold P Good, Arshed Quyyumi, Arthur J Labovitz, Arthur Kerner, Arturo S Campos-Santaolalla, Arunima Misra, Ashok Mukherjee, Ashok Seth, Ashraf Seedhom, Asim N Cheema, Asker Ahmed, Atul Mathur, Atul Verma, Audrey W Leong, Axel Åkerblom, Axelle Fuentes, Aynun Naher, Badhma Valaiyapathi, Baljeet Kaur, Bandula Guruge, Barbara 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Marija T Petrovic, Marija Zdravkovic, Marilyn Black, Marina Garcia, Mario J Garcia, Mariola Szulik, Marisa Orgera, Mark A de Belder, Mark Harbinson, Mark Hyun, Mark Peterson, Mark Xavier, Marlowe Mosley, Marta Capinha, Marta Marcinkiewicz-Siemion, Marta Swiderek, Martha Meyer, Martina Ceseri, Martina Tricoli, Marvin Kronenberg, Mary Williams, Mary Ann Champagne, Mary Colleen Rogge, Mary R Soltau, Mary Streif, Massimo Villella, Massoud Leesar, Matei Claudia, Mateusz Solecki, Matías Nicolás Mungo, Matthew Wall Jr, Matthew Budoff, Matthew Jezior, Matthew Luckie, Matthias Friedrich, Mauren P Haeffner, Maximilian Tscharre, Max-Paul Winter, Mayana Almeida, Mayil S Krishnam, Mayuri Patel, Meenakshi Mishra, Megan Manocchia, Meghana Kakade, Melanie J Munro, Melissa D Chaplin, Melissa LeFevre, Mervyn Andiapen, Michael A Gibson, Michael B Rubens, Michael C Turner, Michael D Shapiro, Michael W Lee, Michael Berlowitz, Michael Davidson, Michael Mack, Michael McDaniel, Michael Mumma, Michal 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Natalia S Oliveira, Natalia de Carvalho Maffei, Natalie Spitzer, Natasha C Putnam, Naved Aslam, Neamat Mowafy, Neeraj Pandit, Neeraj Parakh, Nevena Garcevic, Ngaire Meadows, Nhi N Tran, Nicholas Danchin, Nicki Lakeman, Nicola Johnston, Nicolas W Shammas, Nicole Saint Vrestil, Nicole Deming, Nier Zhong, Niket Patel, Nikola N Boskovic, Nikolaos Karogiannis, Nikos Werner, Nina Johnston, Ning Zhang, Ning Zhou, Niree Hindoyan, Nirmal Kumar, Nitika Chadha, Nitish Naik, Nodira Aripova, Noloyiso Mtana, Nona A Eskelson, Noor Syamira Mokhtar, Noppon Taksaudom, Nor Asiah Basri, Nora Marchelletta, Norma Hogg, Nungshi Jungla, Nuno Ferreira, Oksana A Lubyanaya, Olga B Nikolaeva, Olga Cañavate, Olga Sobrino, Olga Walesiak, Olga Walter, Olga Zdończyk, Olivia J Lim, Olivia Anaya, Olivia Mancilla, Olivier Dubourg, Olugbenga Bello, Omar Almousalli, Omar Thompson, Oni Olurinde, Or Harel, Osama Raheem, Oscar Méndiz, Óscar Prada-Delgado, Oz Shapira, P Christian Schulze, Pachara Panpunuan, Pal 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Pierre Michaud, Pilar Calvillo, Ping Chai, Piotr Jakubowski, Piotr Pruszczyk, Piotr Slomka, Piyamitr Sritara, Poay-Huan Loh, Poonam Sonawane, Pouneh Samadi, Pragnesh P Parikh, Prakash Deedwania, Pranav M Patel, Praneeth Polamuri, Pratiksha Sharma, Precilia Vasquez, Preeti Kamath, Prince Thomas, Priyadarshani Arambam, Puja K Mehta, Purvez Grant, Pushpa Naik, Qi Zhong, Qian Zhao, Qiang Zhou, Qianqian Yuan, Qin Yu, Qingxian Li, Qiulan Xie, Qiutang Zeng, R J Vindhya, R James Gerlach, Rachel King, Rada Vučić, Radmila Lyubarova, Radoslaw Pracon, Raewyn Fisher, Rafael Beyar, Rafael Diaz, Rafael Selgas, Raffaele Bugiardini, Raffaele Fanelli, Raisa Kavalakkat, V S Rajalekshmi, Rajat S Barua, Rajeev Menon, Rajesh Gopalan Nair, Rajesh Francis, Rajiv Narang, Rakesh Yadav, Ralph Alan Huston, T Ramakrishnan, Ramesh de Silva, Rami El Mahmoud, Ramiro Carvalho, Ramon de Jesús-Pérez, Ramona Stevens, Ran Leng, Ranjan Kachru, Ranjit Kumar Nath, Raquel Sanchez, Raven R Dwyer, Raven Lee, Ray Wyman, Raymond 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Hachamovitch, Rosa Homem, Rosa Sandonato, Rosane Laimer, Rosann Gans, Roxanne Yost, Roy Mathew, Rubén Baleón-Espinosa, Ruben Ramos, Rubine Gevorgyan, Rui Ferreira, Rui Jing, Ruth Pérez-Fernández, S K Dwivedi, S Ramakrishnan, Saadat Khan, Sabahat Bokhari, Sabu Thomas, Sadath Lubna, Sajeeda Parveen Khan, Sajeev Chakanalil Govindan, Saket Girotra, Saleem Kassam, Sallie Canada, Salvador Cruz-Flores, Samaa Mohamed, Samantha Ly, Sameh El Kaffas, Samia Massalha, Sampoornima Setty, Samuel Nwosu, Sandeep Seth, Sandeep Singh, Sander R Niehe, Sandra M Rivest, Sandra S Zier, Sandra Ahoud, Sandy Carr, Sanjay Ganapathi, Sanjay Shetty, Sanjeev Sharma, Santa Jimenez, Santhosh Satheesh, Santiago A Garcia, Sara Fernandez, Sara Karlsson, Sara Salkind, Sara Temiyasathit, Sarah Medina Rodriguez, Sarah Beaudry, Sarah Hadjih, Sarah Williams, Sarah Zahrani, Sarju Ralhan, Sasa Hinic, Sasko Kedev, Satinder Singh, Satoshi Yasuda, Satvic Cholenahally Manjunath, Sau Lee, Scott M Kaczkowski, Scott Kinlay, Sean W 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Duarte, Tauqir Huk, Téodora Dutoiu, Terrance Chua, Terry Weyand, Thabitha Charles, Theodoros Kofidis, Theresa McCreary, Thierry Lefevre, Thippeekaa Arumairajah, Thitipong Tepsuwan, Thomas J Mulhearn, Thomas M Meyer, Thomas P Rocco, Thomas R Downes, Thomas Crain, Thomas Haldis, Thomas Mathew, Thomas Redick, Thounaojam Indira Devi, Thuraia Nageh, Tia Cauthren, Tiago Silva, Tiffany Little, Tijana Andric, Tina Harding, Titus Lau, Tiziana Formisano, Tiziano Moccetti, Tomasz Ciurus, Tomasz Mazurek, Tomasz Tarchalski, Toshiyuki Nagai, Tri Tran, Tricia Youn, Trish Tucker, Trudie Milner, Tuhina Bose, Tushar Kotecha, Udo Sechtem, Uma S Valeti, Umberto Cucchini, Umesh Badami, Upendra Kaul, V K Bahl, V S Narain, Valentina Casali, Valeria Godoy, Valerie Robesyn, Vamshi P Priya, Vandana Yadav, Vera McKinney, Veronica De Lenges, Veronica Tinnirello, Vicente Miro, Victor Navarro, Victoria Gumerova, Victoria Hernandez, Vidya Seeratan, Vijay Kumar, Vikentiy Y Kozulin, Viktoria Bulkley, Vilmar Veiga Jr, Vincent Setang, C P Vineeth, Virginai Pubull Nuñez, Virginia Fernández-Figares, Vitor Gomes, Viviana Gabriel, Viviane Dos Santos, Viviane Almeida, Vlad A Iliescu, Vladan Mudrenovic, Vladimir Dzavik, Vojislav L Giga, Walter Enrique Mogrovejo, Wan Xian Chan, Wanda C Marfori, Wanda Parker, Warangkana Mekara, Wassim Nona, Wayne Old, Wayne Pennachi, Weerachai Nawarawong, Wei Chen, Wei Su, Weibing Xing, Wei-Ren Lan, Wenda Crawford, Wendy L Stewart, Wendy Drewes, Wenhua Lin, William B Abernethy, William D Salerno, William F Fearon, William Vergoni, William Weintraub, Winnie C Sia, Wlodzimierz J Musial, Xacobe Flores-Ríos, Xavier Garcia-Moll Marimon, Xi Su, Xiang Ma, Xiangqiong Gu, Xiao Wang, Xiaomei Li, Xiaowei Yao, Xin Fu, Xin Su, Xin Zeng, Xinchun Yang, Xiuhong Li, Xuehua Fang, Xutong Wang, Yaming Geng, Yan Yan, Yanek Pépin-Dubois, Yanfu Wang, Yang Wang, Yanmeng Tian, Yaping Huang, Yechen Han, Yesenia Zambrano, Yi-Hsuan Yang, Ying Tung Sia, Yining Yang, Yitong Ma, Yolayfi Peralta, Yongjian Wu, Yu Kunwu, Yu Zhao, Yudong Peng, Yueh-Hung Lin, Yulan Zhao, Yumei Dong, Yunhai Zhao, Yutthaphan Wannasopha, Yvonne Taul, Zakir Sahul, Zalina Kudzoeva, Zbigniew Kalarus, Zeljko Z Markovic, Zhen Huang, Zheng Ji, Zhenyu Liu, Zhou Yue, Zhulin Zhang, Zhuxi Li, Zile Singh Meharwal, Ziliang Bai, Zixiang Yu, Zohra Huda, Zoltan Davidovits
- Subjects
Male ,Cardiac Catheterization ,Computed Tomography Angiography ,medicine.medical_treatment ,Myocardial Ischemia ,Coronary Disease ,Coronary Artery Disease ,Kaplan-Meier Estimate ,030204 cardiovascular system & hematology ,Coronary Angiography ,ISCHEMIA Research Group ,law.invention ,Angina ,Coronary artery disease ,0302 clinical medicine ,Randomized controlled trial ,law ,Cardiovascular Disease ,Myocardial Revascularization ,030212 general & internal medicine ,Coronary Artery Bypass ,11 Medical and Health Sciences ,Cardiac catheterization ,General Medicine ,Middle Aged ,humanities ,Cardiovascular Diseases ,Cardiology ,Female ,Human ,medicine.medical_specialty ,Ischemia ,Article ,03 medical and health sciences ,Geriatric cardiology ,Percutaneous Coronary Intervention ,General & Internal Medicine ,Internal medicine ,medicine ,Humans ,Angina, Unstable ,Aged ,business.industry ,Coronary Artery Bypa ,Percutaneous coronary intervention ,Bayes Theorem ,medicine.disease ,Heart failure ,Quality of Life ,business - Abstract
BACKGROUND: Among patients with stable coronary disease and moderate or severe ischemia, whether clinical outcomes are better in those who receive an invasive intervention plus medical therapy than in those who receive medical therapy alone is uncertain. METHODS: We randomly assigned 5179 patients with moderate or severe ischemia to an initial invasive strategy (angiography and revascularization when feasible) and medical therapy or to an initial conservative strategy of medical therapy alone and angiography if medical therapy failed. The primary outcome was a composite of death from cardiovascular causes, myocardial infarction, or hospitalization for unstable angina, heart failure, or resuscitated cardiac arrest. A key secondary outcome was death from cardiovascular causes or myocardial infarction. RESULTS: Over a median of 3.2 years, 318 primary outcome events occurred in the invasive-strategy group and 352 occurred in the conservative-strategy group. At 6 months, the cumulative event rate was 5.3% in the invasive-strategy group and 3.4% in the conservative-strategy group (difference, 1.9 percentage points; 95% confidence interval [CI], 0.8 to 3.0); at 5 years, the cumulative event rate was 16.4% and 18.2%, respectively (difference, -1.8 percentage points; 95% CI, -4.7 to 1.0). Results were similar with respect to the key secondary outcome. The incidence of the primary outcome was sensitive to the definition of myocardial infarction; a secondary analysis yielded more procedural myocardial infarctions of uncertain clinical importance. There were 145 deaths in the invasive-strategy group and 144 deaths in the conservative-strategy group (hazard ratio, 1.05; 95% CI, 0.83 to 1.32). CONCLUSIONS: Among patients with stable coronary disease and moderate or severe ischemia, we did not find evidence that an initial invasive strategy, as compared with an initial conservative strategy, reduced the risk of ischemic cardiovascular events or death from any cause over a median of 3.2 years. The trial findings were sensitive to the definition of myocardial infarction that was used. (Funded by the National Heart, Lung, and Blood Institute and others; ISCHEMIA ClinicalTrials.gov number, NCT01471522.).
- Published
- 2020
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