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1. Prevalence and factors associated with osteoporosis and fragility fractures in patients with primary Sjögren syndrome

Author

Salman-Monte, Tarek Carlos, Sanchez-Piedra, Carlos, Fernandez Castro, Monica, Andreu, Jose Luis, Martinez Taboada, Victor, Olivé, Alejandro, Rosas, José, Menor, Raúl, Rodríguez, Beatriz, Garcia Aparicio, Angel, Lopez Longo, Francisco Javier, Manrique-Arija, Sara, Garcia Vadillo, Jesus Alberto, Gil Barato, Susana, López-González, Ruth, Galisteo, Carlos, Gonzalez Martin, Jorge, Ruiz Lucea, Esther, Erausquin, Celia, Melchor, Sheila, Moreira, Begoña, Raya, Enrique, Pego-Reigosa, Jose María, Cid, Natalia, Júdez, Enrique, Moriano, Clara, Narváez, Francisco Javier, Corominas, Hèctor, Garcia Magallon, Blanca, Guillen Astete, Carlos, Castellvi, Ivan, Bohórquez, Cristina, Loricera, Javier, Belzunegui, Joaquín, Illera, Óscar, and Torrente-Segarra, Vicenç

Published
2020
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2. LSO-066 Spanish national regsitry of belimumab in patients with systemic lupus erythematosus

Author

Aldasoro, Vicente, primary, Laiño, María, additional, Enguita, Mónica, additional, Loricera, Javier, additional, Moriano, Clara, additional, Lasa, Carmen, additional, Calvo, Vanesa, additional, Narváez, Francisco Javier, additional, Navarro, Pablo, additional, Casafont, Ivette, additional, Font, Judit, additional, Gállego, Adela, additional, Carrión, Irene, additional, Quiroga, Patricia, additional, Castañeda, Santos, additional, García, Ángel, additional, Belzunegui, Joaquín, additional, Dios, Juán Ramón de, additional, Hernández, Samuel, additional, Heredia, Sergi, additional, Fariña, Aaron, additional, Navarro, Francisco, additional, Ortega, Rafaela, additional, Olmo, Leticia del, additional, Pinillos, Valvanera, additional, Labrador, Eztizen, additional, Ortega, María Carmen, additional, Castro, Patricia, additional, Blanco, Juan, additional, Paulino, Marcos, additional, Matías, María Ángeles, additional, Peralta, Cilia, additional, García, Silvia, additional, Camins, Jordi, additional, Urruticoechea, Ana, additional, Medina, Miguel, additional, Cossio, Piter, additional, Pérez, Eva, additional, Varas, Blanca, additional, Vázquez, Carlos, additional, Vegas, Nuria, additional, Rusinovich, Olga, additional, Giner, Emilio, additional, and Lamúa, José Ramón, additional

Published
2023
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4. Leadership styles: a study in Latin America, the United States and Europe.

Author

Eslava Zapata, Rolando, Omaña Guerrero, Jesús Alfonso, Sierra Narváez, Francisco Javier, and Mogrovejo Andrade, Johanna Milena

Subjects
LEADERSHIP, CORPORATE culture, ORGANIZATION management
Abstract

Copyright of Salud, Ciencia y Tecnología is the property of Fundacion Salud, Ciencia y Tecnologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2023
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5. A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease

Author

González-Serna, David, Ochoa, Eguzkine, López-Isac, Elena, Julià, Antonio, Degenhardt, Frauke, Ortego-Centeno, Norberto, Radstake, Timothy R.D.J., Franke, Andre, Marsal, Sara, Mayes, Maureen D., Martín, Javier, Márquez, Ana, Assassi, Shervin, Zhou, Xiaodong, Tan, Filemon K., Arnett, Frank C., Reveille, John D., Gorlova, Olga, Chen, Wei V., Ying, Jun, Gregersen, Peter K., Lee, Annette T., Voskuyl, Alexandre E., de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Broen, Jasper, Koeleman, Bobby P.C., Simeón, Carmen P., Fonollosa, Vicente, Guillén, Alfredo, Carreira, Patricia, Castellví, Iván, González-Gay, Miguel A., Ríos, Raquel, Callejas-Rubio, Jose Luis, Vargas-Hitos, José A., García-Portales, Rosa, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., García-Hernández, Francisco José, Castillo, Ma Jesús, Aguirre, Ma Ángeles, Gómez-Gracia, Inmaculada, Rodríguez-Rodríguez, Luis, Fernández-Gutiérrez, Benjamín, de la Peña, Paloma García, Vicente, Esther, Andreu, José Luis, Fernández de Castro, Mónica, López-Longo, Francisco Javier, Martínez, Lina, Espinosa, Gerard, Tolosa, Carlos, Pros, Anna, Rodríguez-Carballeira, Mónica, Narváez, Francisco Javier, Rubio-Rivas, Manel, Ortiz-Santamaría, Vera, Madroñero, Ana Belén, Díaz, Bernardino, Trapiella, Luis, Sousa, Adrián, Egurbide, María Victoria, Fanlo-Mateo, Patricia, Sáez-Comet, Luis, Díaz-González, Federico, Hernández, Vanesa, Beltrán, Emma, Román-Ivorra, José Andrés, Grau, Elena, Alegre-Sancho, Juan José, Blanco-García, Francisco J., Oreiro, Natividad, Freire, Mayka, Balsa, Alejandro, Ortiz, Ana M., Hunzelmann, Nicolas, Riemekasten, Gabriela, Distler, Jörg H.W., Witte, Torsten, Airó, Paolo, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Universidad de Salamanca, Junta de Andalucía, Instituto de Salud Carlos III, Ministerio de Economía, Industria y Competitividad (España), Ministerio de Economía y Competitividad (España), Rheumatology, AII - Inflammatory diseases, Julià, Antonio [0000-0001-6064-3620], Franke, Andre [0000-0003-1530-5811], Mayes, Maureen D [0000-0001-5070-2535], Apollo - University of Cambridge Repository, Mayes, Maureen D. [0000-0001-5070-2535], and Universidad de Cantabria

Subjects
0301 basic medicine, Male, Settore MED/09 - Medicina Interna, 692/699/249/2510, 45/43, Gene Expression, lcsh:Medicine, Genome-wide association study, Single-nucleotide polymorphism, Locus (genetics), Disease, Inflammatory diseases, SLC22A5, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Crohn Disease, medicine, Humans, Genetic Predisposition to Disease, Allele, lcsh:Science, Genetic association, 030203 arthritis & rheumatology, Genetics, Crohn's disease, Multidisciplinary, Scleroderma, Systemic, 45, biology, lcsh:R, article, medicine.disease, digestive system diseases, 3. Good health, Settore MED/16 - Reumatologia, 030104 developmental biology, Risk factors, Genetic Loci, Case-Control Studies, biology.protein, Female, lcsh:Q, 692/499, Genome-Wide Association Study
Abstract

We thank Sofia Vargas and Gema Robledo for her excellent technical assistance and all the patients and control donors for their essential collaboration. We thank WTCCC (Welcome Trust Case Control Consortium) for the access to GWAS data of Crohn’s disease patients and healthy controls, Banco Nacional de ADN (University of Salamanca, Spain) who supplied part of the control DNA samples, and dbGap for granting access to the IBD Genetics Consortium (IBDGC) Crohn’s Disease GWAS data (phs000130.v1.p1). The IBDGC Crohn’s Disease Genome-Wide Association Study was conducted by the IBDGC Investigators and supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). This manuscript was not prepared in collaboration with Investigators of the IBDGC Crohn’s Disease Genome-Wide Association Study and does not necessarily reflect the opinions or views of the IBDGC Crohn’s Disease Genome-Wide Association Study, the NIDDK Central Repositories, or the NIDDK., Genome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohn’s disease (CD), some of which confer susceptibility to both diseases. In order to identify new risk loci shared between these two immune-mediated disorders, we performed a cross-disease meta-analysis including GWAS data from 5,734 SSc patients, 4,588 CD patients and 14,568 controls of European origin. We identified 4 new loci shared between SSc and CD, IL12RB2, IRF1/SLC22A5, STAT3 and an intergenic locus at 6p21.31. Pleiotropic variants within these loci showed opposite allelic effects in the two analysed diseases and all of them showed a significant effect on gene expression. In addition, an enrichment in the IL-12 family and type I interferon signaling pathways was observed among the set of SSc-CD common genetic risk loci. In conclusion, through the first cross-disease meta-analysis of SSc and CD, we identified genetic variants with pleiotropic effects on two clinically distinct immune-mediated disorders. The fact that all these pleiotropic SNPs have opposite allelic effects in SSc and CD reveals the complexity of the molecular mechanisms by which polymorphisms affect diseases., This work was supported by the Spanish Ministry of Economy and Competitiveness (SAF2015-66761-P; IPT-010000-2010-36, cofunded by the European Regional Development Fund), Consejería de Innovación, Ciencia y Tecnología, Junta de Andalucía (Spain) (P12-BIO-1395) and the Cooperative Research Thematic Network (RETICS) programme (RD16/0012/0013) (RIER) from Instituto de Salud Carlos III (ISCIII, Spanish Ministry of Economy, Industry and Competitiveness). AM is recipient of a Miguel Servet fellowship (CP17/00008) from ISCIII (Spanish Ministry of Economy, Industry and Competitiveness). DGS was supported by the Spanish Ministry of Economy and Competitiveness through the FPI programme (SAF2015-66761-P). This work is part of the Doctoral Thesis “Bases Genéticas de la Esclerosis Sistémica: Integrando Genómica y Transcriptómica”.

Published
2020

6. Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility

Author

Diaz-Gallo, Lina-Marcela, Simeon, Carmen P, Broen, Jasper C, Ortego-Centeno, Norberto, Beretta, Lorenzo, Vonk, Madelon C, Carreira, Patricia E, Vargas, Sofia, Román-Ivorra, José Andrés, González-Gay, Miguel A, Tolosa, Carlos, López-Longo, Francisco Javier, Espinosa, Gerard, Vicente, Esther F, Hesselstrand, Roger, Riemekasten, Gabriela, Witte, Torsten, Distler, Jörg H W, Voskuyl, Alexandre E, Schuerwegh, Annemie J, Shiels, Paul G, Nordin, Annika, Padyukov, Leonid, Hoffmann-Vold, Anna-Maria, Scorza, Raffaella, Lunardi, Claudio, Airo, Paolo, van Laar, Jacob M, Hunzelmann, Nicolas, Gathof, Birgit S, Kreuter, Alexander, Herrick, Ariane, Worthington, Jane, Denton, Christopher P, Zhou, Xiaodong, Arnett, Frank C, Fonseca, Carmen, Koeleman, Bobby PC, Assasi, Shervin, Radstake, Timothy R D J, Mayes, Maureen D, Martín, Javier, Callejas, Jose Luis, Ríos, Raquel, Navarrete, Nuria, Portales, Rosa García, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., Sánchez-Román, Julio, García-Hernández, Francisco J, Castillo, M Jesús, Aguirre, M Ángeles, Gómez-Gracia, Inmaculada, Fernández-Gutiérrez, Benjamín, Rodríguez-Rodríguez, Luis, Andreu, José Luis, de la Peña, Paloma García, Martínez, Lina, Robles, María Ángeles, Oreiro, Natividad, de Reumatología, Servicio, Fonollosa, Vicente, Pros, Anna, Carballeira, Mónica Rodríguez, Narváez, Francisco Javier, Díaz, Bernardino, Trapiella, Luis, Gallego, María, del Carmen Freire, María, Vaqueiro, Inés, Egurbide, María Victoria, Sáez-Comet, Luis, Díaz, Federico, Hernández, Vanesa, and Beltrán, Emma

Published
2013
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7. A Genome-Wide Association Study Identifies rs116199914 As an Intergenic Variant Associated with Carotid Intima-Media Thickness in Spanish Patients with Rheumatoid Arthritis

Author

López-Mejías, Raquel, Genre, Fernanda, Remuzgo-Martínez, Sara, Carmona, David, Pulito-Cueto, Verónica, González-Juanatey, Carlos, Corrales, Alfonso, Vicente, Esther, Miranda-Filloy, J. A., Segura Tejera, Beatriz, Ramírez Huaranga, Marco A., Mijares, Verónica, Lera-Gómez, Leticia, Blanco, Ricardo, Robustillo-Villarino, Montserrat, Rodríguez-Carrio, Javier, Suárez, Ana, Alperi-López, Mercedes, Ballina García, Francisco Javier, López Longo, Francisco Javier, Narváez, Francisco Javier, Alegre, Juan José, Mera, Antonio, Perez Pampín, Eva, González, Antonio, Raya Álvarez, Enrique, López-Pedrera, Chary, Gómez Vaquero, Carmen, Balsa, Alejandro, Pascual-Salcedo, Dora, Carreira, P., González-Álvaro, Isidoro, Rodríguez Rodríguez, Luis, Fernández Gutiérrez, Benjamín, Ferraz-Amaro, Iván, Castañeda, Santos, Martín, J., Llorca, Javier, and González-Gay, M. A.

Published
2018

8. Comorbidities in Patients With Primary Sjögren's Syndrome and Systemic Lupus Erythematosus: A Comparative Registries-Based Study

Author

Rúa-Figueroa, Iñigo, Fernández Castro, Mónica, Andreu, José L, Sanchez-Piedra, Carlos, Martínez-Taboada, Víctor, Olivé, Alejandro, López-Longo, Javier, Rosas, José, Galindo, María, Calvo-Alén, Jaime, Fernández-Nebro, Antonio, Alonso, Fernando, Rodríguez-Lozano, Beatriz, Alberto García Vadillo, Jesús, Menor, Raúl, Narváez, Francisco Javier, Erausquin, Celia, García-Aparicio, Ángel, Tomero, Eva, Manrique-Arija, Sara, Horcada, Loreto, Uriarte, Esther, Gil, Susana, Blanco, Ricardo, López-González, Ruth, Boteanu, Alina, Freire, Mercedes, Galisteo, Carlos, Rodríguez-Gómez, Manuel, Díez-Álvarez, Elvira, Pego-Reigosa, José M, and Sjogrenser and Relesser Researchers and EAS-SER Group

Subjects
Adult, Male, Comorbidity, Middle Aged, Cohort Studies, Cross-Sectional Studies, Sjogren's Syndrome, Cardiovascular Diseases, Prevalence, Humans, Lupus Erythematosus, Systemic, Female, Registries, Aged
Abstract

To compare the prevalence of the main comorbidities in 2 large cohorts of patients with primary Sjögren's syndrome (SS) and systemic lupus erythematosus (SLE), with a focus on cardiovascular (CV) diseases. This was a cross-sectional multicenter study where the prevalence of more relevant comorbidities in 2 cohorts was compared. Patients under followup from SJOGRENSER (Spanish Rheumatology Society Registry of Primary SS) and RELESSER (Spanish Rheumatology Society Registry of SLE), and who fulfilled the 2002 American-European Consensus Group and 1997 American College of Rheumatology classification criteria, respectively, were included. A binomial logistic regression analysis was carried out to explore potential differences, making general adjustments for age, sex, and disease duration and specific adjustments for each variable, including CV risk factors and treatments, when appropriate. A total of 437 primary SS patients (95% female) and 2,926 SLE patients (89% female) were included. The mean age was 58.6 years (interquartile range [IQR] 50.0-69.9 years) for primary SS patients and 45.1 years (IQR 36.4-56.3 years) for SLE patients (P Primary SS patients have a consistently less serious CV comorbidity burden and a lower prevalence of severe infection than those with SLE. In contrast, their risk of lymphoma is greater.

Published
2016

10. LAUDES Study: impact of digital ulcers on hand functional limitation, work productivity and daily activities, in systemic sclerosis patients.

Author

Castellví, Ivan, Eguiluz, Saioa, Escudero-Contreras, Alejandro, Ríos, Juan José, Calvo-Alén, Jaime, Callejas-Rubio, José Luis, De la Puente, Carlos, Simeón, Carmen Pilar, Narváez, Francisco Javier, Espinosa, Gerard, Carreira, Patricia E., Rubio-Rivas, Manuel, Alegre, Juan José, Guillén-Del-Castillo, Alfredo, Román-Ivorra, Jose Andrés, Fonollosa, Vicent, LAUDES Study Group, Aspe de la Iglesia, Bruno, Barbado Ajo, Julia, and Batista Perdomo, Daniel

Subjects
SYSTEMIC scleroderma, RAYNAUD'S disease, ULCERS, FUNCTIONAL assessment
Abstract

The objective of this study was to evaluate the impact of digital ulcers (DUs) in daily life of systemic sclerosis (SSc) Spanish patients. We developed a multicenter observational study to compare functional disability in SSc patients with active DUs vs. those without DUs. An additional correlation between perception of patients and physicians on disability due to DUs was performed. A total of 199 patients were enrolled, 70 (35%) with DUs. Patients with DUs were younger (48 vs. 58 years; p < 0.001) and had more frequently the diffuse subtype of SSc (45 vs. 24%; p = 0.004) than patients without DUs. Patients with DUs showed significantly higher scores in the Cochin Hand Function Scale overall (p < 0.002) and for each of its five dimensions. They also showed higher scores in the Systemic Sclerosis Health Assessment Questionnaire items related to hand function such as, dress and self-care (p < 0.013), eat (p < 0.013) and grip (p < 0.03), and higher Visual Analogic Scale scores for pain (p < 0.013), trouble related with Raynaud's Phenomenon (p < 0.001) and sense of severity (p < 0.004). Impact on daily activities was significantly higher in patients with DUs (p = 0.002), with a non-significant trend to experience higher impact on work productivity (p = 0.07). A high correlation was found between DUs patients and physicians opinion on the impact of DUs (daily life: Pearson R = 0.86; work productivity: Pearson R = 0.87). Study findings show an impaired hand function and increased disability for daily life activities and work productivity in SSc patients with DUs compared with patients without DUs in Spanish population. [ABSTRACT FROM AUTHOR]

Published
2019
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11. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

Author

Carmona, Francisco David, Vaglio, Augusto, Mackie, Sarah L., Hernández-Rodríguez, José, Monach, Paul A., Castañeda, Santos, Solans, Roser, Morado, Inmaculada C., Narváez, Francisco Javier, Ramentol-Sintas, Marc, Pease, Colin T., Dasgupta, Bhaskar, Watts, Richard, Khalidi, Nader A., Langford, Carol A., Ytterberg, Steven R., Boiardi, Luigi, Beretta, Lorenzo, Govoni, Marcello, Emmi, Giacomo, Bonatti, Francesco, Cimmino, Marco A., Witte, Torsten, Neumann, Thomas, Holle, Julia, Schönau, Verena, Sailler, Laurent, Papo, Thomas, Haroche, Julien, Mahr, Alfred, Mouthon, Luc, Molberg, Øyvind, Diamantopoulos, Andreas P., Voskuyl, Alexandre E., Brouwer, Elisabeth, Daikeler, Thomas, Berger, Christoph T., Molloy, Eamonn S., O'Neill, Lorraine, Blockmans, Daniel, Lie, Benedicte A., McLaren, Paul J, Vyse, Timothy J., Wijmenga, Cisca, Allanore, Yannick, Koeleman, Bobby P.C., Callejas-Rubio, José Luis, Caminal-Montero, Luis, Corbera-Bellalta, Marc, de Miguel, Eugenio, Spanish CGA Group, UKGCA Consortium, Vasculitis Clinical Research Consortium, Carmona, Francisco David, Vaglio, Augusto, Mackie, Sarah L., Hernández-Rodríguez, José, Monach, Paul A., Castañeda, Santos, Solans, Roser, Morado, Inmaculada C., Narváez, Francisco Javier, Ramentol-Sintas, Marc, Pease, Colin T., Dasgupta, Bhaskar, Watts, Richard, Khalidi, Nader A., Langford, Carol A., Ytterberg, Steven R., Boiardi, Luigi, Beretta, Lorenzo, Govoni, Marcello, Emmi, Giacomo, Bonatti, Francesco, Cimmino, Marco A., Witte, Torsten, Neumann, Thomas, Holle, Julia, Schönau, Verena, Sailler, Laurent, Papo, Thomas, Haroche, Julien, Mahr, Alfred, Mouthon, Luc, Molberg, Øyvind, Diamantopoulos, Andreas P., Voskuyl, Alexandre E., Brouwer, Elisabeth, Daikeler, Thomas, Berger, Christoph T., Molloy, Eamonn S., O'Neill, Lorraine, Blockmans, Daniel, Lie, Benedicte A., McLaren, Paul J, Vyse, Timothy J., Wijmenga, Cisca, Allanore, Yannick, Koeleman, Bobby P.C., Callejas-Rubio, José Luis, Caminal-Montero, Luis, Corbera-Bellalta, Marc, de Miguel, Eugenio, Spanish CGA Group, UKGCA Consortium, and Vasculitis Clinical Research Consortium

Published
2017

12. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

Author

MMB, UMC Utrecht, Genetica Groep Koeleman, Circulatory Health, Brain, Child Health, Carmona, Francisco David, Vaglio, Augusto, Mackie, Sarah L., Hernández-Rodríguez, José, Monach, Paul A., Castañeda, Santos, Solans, Roser, Morado, Inmaculada C., Narváez, Francisco Javier, Ramentol-Sintas, Marc, Pease, Colin T., Dasgupta, Bhaskar, Watts, Richard, Khalidi, Nader A., Langford, Carol A., Ytterberg, Steven R., Boiardi, Luigi, Beretta, Lorenzo, Govoni, Marcello, Emmi, Giacomo, Bonatti, Francesco, Cimmino, Marco A., Witte, Torsten, Neumann, Thomas, Holle, Julia, Schönau, Verena, Sailler, Laurent, Papo, Thomas, Haroche, Julien, Mahr, Alfred, Mouthon, Luc, Molberg, Øyvind, Diamantopoulos, Andreas P., Voskuyl, Alexandre E., Brouwer, Elisabeth, Daikeler, Thomas, Berger, Christoph T., Molloy, Eamonn S., O'Neill, Lorraine, Blockmans, Daniel, Lie, Benedicte A., McLaren, Paul J, Vyse, Timothy J., Wijmenga, Cisca, Allanore, Yannick, Koeleman, Bobby P.C., Callejas-Rubio, José Luis, Caminal-Montero, Luis, Corbera-Bellalta, Marc, de Miguel, Eugenio, Spanish CGA Group, UKGCA Consortium, Vasculitis Clinical Research Consortium, MMB, UMC Utrecht, Genetica Groep Koeleman, Circulatory Health, Brain, Child Health, Carmona, Francisco David, Vaglio, Augusto, Mackie, Sarah L., Hernández-Rodríguez, José, Monach, Paul A., Castañeda, Santos, Solans, Roser, Morado, Inmaculada C., Narváez, Francisco Javier, Ramentol-Sintas, Marc, Pease, Colin T., Dasgupta, Bhaskar, Watts, Richard, Khalidi, Nader A., Langford, Carol A., Ytterberg, Steven R., Boiardi, Luigi, Beretta, Lorenzo, Govoni, Marcello, Emmi, Giacomo, Bonatti, Francesco, Cimmino, Marco A., Witte, Torsten, Neumann, Thomas, Holle, Julia, Schönau, Verena, Sailler, Laurent, Papo, Thomas, Haroche, Julien, Mahr, Alfred, Mouthon, Luc, Molberg, Øyvind, Diamantopoulos, Andreas P., Voskuyl, Alexandre E., Brouwer, Elisabeth, Daikeler, Thomas, Berger, Christoph T., Molloy, Eamonn S., O'Neill, Lorraine, Blockmans, Daniel, Lie, Benedicte A., McLaren, Paul J, Vyse, Timothy J., Wijmenga, Cisca, Allanore, Yannick, Koeleman, Bobby P.C., Callejas-Rubio, José Luis, Caminal-Montero, Luis, Corbera-Bellalta, Marc, de Miguel, Eugenio, Spanish CGA Group, UKGCA Consortium, and Vasculitis Clinical Research Consortium

Published
2017

13. Exploring the remission concept in rheumatoid arthritis with patients and rheumatologists: time for a new approach?

Author

Acebes, Carlos, Andreu, José Luis, Balsa, Alejandro, Batlle, Enrique, De-Toro, Javier, García Llorente, Francisco, Hernández, María Victoria, Fernández-Gutiérrez, Benjamín, Hidalgo-Calleja, Cristina, Mayordomo, Lucía, Naredo, Esperanza, Narváez, Francisco Javier, Ortiz, Ana M., Pablos, José Luis, Pérez-Sandoval, Trinidad, Rodríguez-Lozano, Carlos, Sánchez-Pernaute, Olga, Usón, Jacqueline, Negrón, José Bernardo, Loza, Estíbaliz, Carmona, Loreto, Gómez Castro, Susana, Montoro Álvarez, María, Acebes, Carlos, Andreu, José Luis, Balsa, Alejandro, Batlle, Enrique, De-Toro, Javier, García Llorente, Francisco, Hernández, María Victoria, Fernández-Gutiérrez, Benjamín, Hidalgo-Calleja, Cristina, Mayordomo, Lucía, Naredo, Esperanza, Narváez, Francisco Javier, Ortiz, Ana M., Pablos, José Luis, Pérez-Sandoval, Trinidad, Rodríguez-Lozano, Carlos, Sánchez-Pernaute, Olga, Usón, Jacqueline, Negrón, José Bernardo, Loza, Estíbaliz, Carmona, Loreto, Gómez Castro, Susana, and Montoro Álvarez, María

Abstract

[Abstract] Objectives: To explore the remission concept in rheumatoid arthritis (RA) and to compare remission definitions and related concepts between rheumatologists and patients with the purpose of identifying similarities and disparities to comprehend the different perspectives of the disease. Methods: This was a qualitative study of discourse and content analysis through focus groups, conducted from February to March 2016. Four focus groups were set up, each one with different interests: rheumatologists involved in basic research (BR), rheumatologists with high specialisation in imaging techniques (IR), clinical rheumatologists (CR), and patients (PA). Results: There is no consensus in a remission definition in RA; differences exist between-groups, rheumatologists and patients value remission differently, and there are discrepancies within the group of rheumatologists. Rheumatologists highlight quantifiable objective parameters, in contrast, patients did not consider objective measures as the best instruments, and they prefer subjective measures of remission. The data confirmed the existence of two sources of knowledge of the disease, technical (physicians) and experiential (patients). These sources of knowledge should concur in order to establish new remission criteria well-adjusted to reality. Conclusions: The lack of consensus between key groups implicated in defining remission and remission criteria suggests a new strategy for its operational definition. Our group proposes that subjects with a balance between experiential and technical knowledge, should be the ones in charge of this assignment.

Published
2017

14. Brief Report: IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies

Author

López-Isac, Elena, Martín, Jose Ezequiel, Assassi, Shervin, Simeón, Carmen P., Carreira, Patricia, Ortego-Centeno, Norberto, Freire, Mayka, Beltrán, Emma, Narváez, Javier, Alegre-Sancho, Juan J., Fernández-Gutiérrez, Benjamín, Balsa, Alejandro, Ortiz, Ana M., González-Gay, Miguel A., Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Witte, Torsten, Hunzelmann, Nicolas, Distler, Jörg H W, Riekemasten, Gabriella, van der Helm-van Mil, Annette H., de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Voskuyl, Alexandre E., Vonk, Madelon C., Molberg, Øyvind, Merriman, Tony, Hesselstrand, Roger, Nordin, Annika, Padyukov, Leonid, Herrick, Ariane, Eyre, Steve, Koeleman, Bobby P C, Denton, Christopher P., Fonseca, Carmen, Radstake, Timothy R D J, Worthington, Jane, Mayes, Maureen D., Martín, Javier, Ríos, Raquel, Callejas, Jose Luis, Hitos, José Antonio Vargas, Portales, Rosa García, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., García-Hernández, Francisco José, Castillo, Ma Jesús, Ángeles Aguirre, Ma, Gómez-Gracia, Inmaculada, Rodríguez-Rodríguez, Luis, Peña, Paloma García de la, Vicente, Esther, Andreu, José Luis, de Castro, Mónica Fernández, López-Longo, Francisco Javier, Martínez, Lina, Fonollosa, Vicente, Guillén, Alfredo, Castellví, Iván, Espinosa, Gerard, Tolosa, Carlos, Pros, Anna, Carballeira, Mónica Rodríguez, Narváez, Francisco Javier, Rivas, Manel Rubio, Ortiz-Santamaría, Vera, Madroñero, Ana Belén, Díaz, Bernardino, Trapiella, Luis, Sousa, Adrián, Egurbide, María Victoria, Mateo, Patricia Fanlo, Sáez-Comet, Luis, Díaz, Federico, Hernández, Vanesa, Román-Ivorra, José Andrés, Grau, Elena, Alegre-Sancho, Juan José, Blanco García, Francisco J., and Oreiro, Natividad

Subjects
Rheumatology, Immunology, Journal Article, Immunology and Allergy, skin and connective tissue diseases
Abstract

Objective: Systemic sclerosis (SSc) and rheumatoid arthritis (RA) are autoimmune diseases that have similar clinical and immunologic characteristics. To date, several shared SSc–RA genetic loci have been identified independently. The aim of the current study was to systematically search for new common SSc–RA loci through an interdisease meta–genome-wide association (meta-GWAS) strategy. Methods: The study was designed as a meta-analysis combining GWAS data sets of patients with SSc and patients with RA, using a strategy that allowed identification of loci with both same-direction and opposite-direction allelic effects. The top single-nucleotide polymorphisms were followed up in independent SSc and RA case–control cohorts. This allowed an increase in the sample size to a total of 8,830 patients with SSc, 16,870 patients with RA, and 43,393 healthy controls. Results: This cross-disease meta-analysis of the GWAS data sets identified several loci with nominal association signals (P

Published
2016

15. Brief Report: IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies

Author

Genetica Groep Koeleman, Circulatory Health, Brain, Child Health, Translationele immunologie, Infection & Immunity, López-Isac, Elena, Martín, Jose Ezequiel, Assassi, Shervin, Simeón, Carmen P., Carreira, Patricia, Ortego-Centeno, Norberto, Freire, Mayka, Beltrán, Emma, Narváez, Javier, Alegre-Sancho, Juan J., Fernández-Gutiérrez, Benjamín, Balsa, Alejandro, Ortiz, Ana M., González-Gay, Miguel A., Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Witte, Torsten, Hunzelmann, Nicolas, Distler, Jörg H W, Riekemasten, Gabriella, van der Helm-van Mil, Annette H., de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Voskuyl, Alexandre E., Vonk, Madelon C., Molberg, Øyvind, Merriman, Tony, Hesselstrand, Roger, Nordin, Annika, Padyukov, Leonid, Herrick, Ariane, Eyre, Steve, Koeleman, Bobby P C, Denton, Christopher P., Fonseca, Carmen, Radstake, Timothy R D J, Worthington, Jane, Mayes, Maureen D., Martín, Javier, Ríos, Raquel, Callejas, Jose Luis, Hitos, José Antonio Vargas, Portales, Rosa García, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., García-Hernández, Francisco José, Castillo, Ma Jesús, Ángeles Aguirre, Ma, Gómez-Gracia, Inmaculada, Rodríguez-Rodríguez, Luis, Peña, Paloma García de la, Vicente, Esther, Andreu, José Luis, de Castro, Mónica Fernández, López-Longo, Francisco Javier, Martínez, Lina, Fonollosa, Vicente, Guillén, Alfredo, Castellví, Iván, Espinosa, Gerard, Tolosa, Carlos, Pros, Anna, Carballeira, Mónica Rodríguez, Narváez, Francisco Javier, Rivas, Manel Rubio, Ortiz-Santamaría, Vera, Madroñero, Ana Belén, Díaz, Bernardino, Trapiella, Luis, Sousa, Adrián, Egurbide, María Victoria, Mateo, Patricia Fanlo, Sáez-Comet, Luis, Díaz, Federico, Hernández, Vanesa, Román-Ivorra, José Andrés, Grau, Elena, Alegre-Sancho, Juan José, Blanco García, Francisco J., Oreiro, Natividad, Genetica Groep Koeleman, Circulatory Health, Brain, Child Health, Translationele immunologie, Infection & Immunity, López-Isac, Elena, Martín, Jose Ezequiel, Assassi, Shervin, Simeón, Carmen P., Carreira, Patricia, Ortego-Centeno, Norberto, Freire, Mayka, Beltrán, Emma, Narváez, Javier, Alegre-Sancho, Juan J., Fernández-Gutiérrez, Benjamín, Balsa, Alejandro, Ortiz, Ana M., González-Gay, Miguel A., Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Witte, Torsten, Hunzelmann, Nicolas, Distler, Jörg H W, Riekemasten, Gabriella, van der Helm-van Mil, Annette H., de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Voskuyl, Alexandre E., Vonk, Madelon C., Molberg, Øyvind, Merriman, Tony, Hesselstrand, Roger, Nordin, Annika, Padyukov, Leonid, Herrick, Ariane, Eyre, Steve, Koeleman, Bobby P C, Denton, Christopher P., Fonseca, Carmen, Radstake, Timothy R D J, Worthington, Jane, Mayes, Maureen D., Martín, Javier, Ríos, Raquel, Callejas, Jose Luis, Hitos, José Antonio Vargas, Portales, Rosa García, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., García-Hernández, Francisco José, Castillo, Ma Jesús, Ángeles Aguirre, Ma, Gómez-Gracia, Inmaculada, Rodríguez-Rodríguez, Luis, Peña, Paloma García de la, Vicente, Esther, Andreu, José Luis, de Castro, Mónica Fernández, López-Longo, Francisco Javier, Martínez, Lina, Fonollosa, Vicente, Guillén, Alfredo, Castellví, Iván, Espinosa, Gerard, Tolosa, Carlos, Pros, Anna, Carballeira, Mónica Rodríguez, Narváez, Francisco Javier, Rivas, Manel Rubio, Ortiz-Santamaría, Vera, Madroñero, Ana Belén, Díaz, Bernardino, Trapiella, Luis, Sousa, Adrián, Egurbide, María Victoria, Mateo, Patricia Fanlo, Sáez-Comet, Luis, Díaz, Federico, Hernández, Vanesa, Román-Ivorra, José Andrés, Grau, Elena, Alegre-Sancho, Juan José, Blanco García, Francisco J., and Oreiro, Natividad

Published
2016

16. Comorbidities in Patients With Primary Sjögren's Syndrome and Systemic Lupus Erythematosus: A Comparative Registries-Based Study.

Author

Rúa-Figueroa, Iñigo, Fernández Castro, Mónica, Andreu, José L., Sanchez-Piedra, Carlos, Martínez-Taboada, Víctor, Olivé, Alejandro, López-Longo, Javier, Rosas, José, Galindo, María, Calvo-Alén, Jaime, Fernández-Nebro, Antonio, Alonso, Fernando, Rodríguez-Lozano, Beatriz, Alberto García Vadillo, Jesús, Menor, Raúl, Narváez, Francisco Javier, Erausquin, Celia, García-Aparicio, Ángel, Tomero, Eva, and Manrique-Arija, Sara

Subjects
CARDIOVASCULAR diseases, COMPARATIVE studies, LONGITUDINAL method, RESEARCH methodology, MEDICAL cooperation, QUESTIONNAIRES, RESEARCH, SJOGREN'S syndrome, SYSTEMIC lupus erythematosus, COMORBIDITY, EVALUATION research, ACQUISITION of data, DISEASE prevalence, CROSS-sectional method
Abstract

Objective: To compare the prevalence of the main comorbidities in 2 large cohorts of patients with primary Sjögren's syndrome (SS) and systemic lupus erythematosus (SLE), with a focus on cardiovascular (CV) diseases.Methods: This was a cross-sectional multicenter study where the prevalence of more relevant comorbidities in 2 cohorts was compared. Patients under followup from SJOGRENSER (Spanish Rheumatology Society Registry of Primary SS) and RELESSER (Spanish Rheumatology Society Registry of SLE), and who fulfilled the 2002 American-European Consensus Group and 1997 American College of Rheumatology classification criteria, respectively, were included. A binomial logistic regression analysis was carried out to explore potential differences, making general adjustments for age, sex, and disease duration and specific adjustments for each variable, including CV risk factors and treatments, when appropriate.Results: A total of 437 primary SS patients (95% female) and 2,926 SLE patients (89% female) were included. The mean age was 58.6 years (interquartile range [IQR] 50.0-69.9 years) for primary SS patients and 45.1 years (IQR 36.4-56.3 years) for SLE patients (P < 0.001), and disease duration was 10.4 years (IQR 6.0-16.7 years) and 13.0 years (IQR 7.45-19.76 years), respectively (P < 0.001). Smoking, dyslipidemia, and arterial hypertension were associated less frequently with primary SS (odds ratio [OR] 0.36 [95% confidence interval (95% CI) 0.28-0.48], 0.74 [95% CI 0.58-0.94], and 0.50 [95% CI 0.38-0.66], respectively) as were life-threatening CV events (i.e., stroke or myocardial infarction; OR 0.57 [95% CI 0.35-0.92]). Conversely, lymphoma was associated more frequently with primary SS (OR 4.41 [95% CI 1.35-14.43]). The prevalence of severe infection was lower in primary SS than in SLE (10.1% versus 16.9%; OR 0.54 [95% CI 0.39-0.76]; P < 0.001).Conclusion: Primary SS patients have a consistently less serious CV comorbidity burden and a lower prevalence of severe infection than those with SLE. In contrast, their risk of lymphoma is greater. [ABSTRACT FROM AUTHOR]

Published
2017
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18. Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis

Author

Mayes, Maureen D., primary, Bossini-Castillo, Lara, additional, Gorlova, Olga, additional, Martin, José Ezequiel, additional, Zhou, Xiaodong, additional, Chen, Wei V., additional, Assassi, Shervin, additional, Ying, Jun, additional, Tan, Filemon K., additional, Arnett, Frank C., additional, Reveille, John D., additional, Guerra, Sandra, additional, Teruel, María, additional, Carmona, Francisco David, additional, Gregersen, Peter K., additional, Lee, Annette T., additional, López-Isac, Elena, additional, Ochoa, Eguzkine, additional, Carreira, Patricia, additional, Simeón, Carmen Pilar, additional, Castellví, Iván, additional, González-Gay, Miguel Ángel, additional, Zhernakova, Alexandra, additional, Padyukov, Leonid, additional, Alarcón-Riquelme, Marta, additional, Wijmenga, Cisca, additional, Brown, Matthew, additional, Beretta, Lorenzo, additional, Riemekasten, Gabriela, additional, Witte, Torsten, additional, Hunzelmann, Nicolas, additional, Kreuter, Alexander, additional, Distler, Jörg H.W., additional, Voskuyl, Alexandre E., additional, Schuerwegh, Annemie J., additional, Hesselstrand, Roger, additional, Nordin, Annika, additional, Airó, Paolo, additional, Lunardi, Claudio, additional, Shiels, Paul, additional, van Laar, Jacob M., additional, Herrick, Ariane, additional, Worthington, Jane, additional, Denton, Christopher, additional, Wigley, Fredrick M., additional, Hummers, Laura K., additional, Varga, John, additional, Hinchcliff, Monique E., additional, Baron, Murray, additional, Hudson, Marie, additional, Pope, Janet E., additional, Furst, Daniel E., additional, Khanna, Dinesh, additional, Phillips, Kristin, additional, Schiopu, Elena, additional, Segal, Barbara M., additional, Molitor, Jerry A., additional, Silver, Richard M., additional, Steen, Virginia D., additional, Simms, Robert W., additional, Lafyatis, Robert A., additional, Fessler, Barri J., additional, Frech, Tracy M., additional, AlKassab, Firas, additional, Docherty, Peter, additional, Kaminska, Elzbieta, additional, Khalidi, Nader, additional, Jones, Henry Niall, additional, Markland, Janet, additional, Robinson, David, additional, Broen, Jasper, additional, Radstake, Timothy R.D.J., additional, Fonseca, Carmen, additional, Koeleman, Bobby P., additional, Martin, Javier, additional, Ortego-Centeno, Norberto, additional, Ríos, Raquel, additional, Callejas, José Luis, additional, Navarrete, Nuria, additional, García Portales, Rosa, additional, Camps, María Teresa, additional, Fernández-Nebro, Antonio, additional, González-Escribano, María F., additional, Sánchez-Román, Julio, additional, García-Hernández, Francisco José, additional, Castillo, María Jesús, additional, Aguirre, María Ángeles, additional, Gómez-Gracia, Inmaculada, additional, Fernández-Gutiérrez, Benjamín, additional, Rodríguez-Rodríguez, Luis, additional, Vicente, Esther, additional, Andreu, José Luis, additional, Fernández de Castro, Mónica, additional, García de la Peña, Paloma, additional, López-Longo, Francisco Javier, additional, Martínez, Lina, additional, Fonollosa, Vicente, additional, Espinosa, Gerard, additional, Tolosa, Carlos, additional, Pros, Anna, additional, Rodríguez Carballeira, Mónica, additional, Narváez, Francisco Javier, additional, Rubio Rivas, Manel, additional, Ortiz Santamaría, Vera, additional, Díaz, Bernardino, additional, Trapiella, Luis, additional, Freire, María del Carmen, additional, Sousa, Adrián, additional, Egurbide, María Victoria, additional, Fanlo Mateo, Patricia, additional, Sáez-Comet, Luis, additional, Díaz, Federico, additional, Hernández, Vanesa, additional, Beltrán, Emma, additional, Román-Ivorra, José Andrés, additional, Grau, Elena, additional, Alegre Sancho, Juan José, additional, Blanco García, Francisco J., additional, Oreiro, Natividad, additional, and Fernández Sueiro, Luis, additional

Published
2014
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19. Evaluation of a Shared Autoimmune Disease-associated Polymorphism of TRAF6 in Systemic Sclerosis and Giant Cell Arteritis

Author

CARMONA, F. DAVID, SERRANO, AURORA, RODRÍGUEZ-RODRÍGUEZ, LUIS, CALLEJAS, JOSÉ LUIS, SIMEÓN, CARMEN P., CARREIRA, PATRICIA, CASTAÑEDA, SANTOS, SOLANS, ROSER, BLANCO, RICARDO, GONZÁLEZ-GAY, MIGUEL A., MARTÍN, JAVIER, Ortego-Centeno, Norberto, Ríos, Raquel, Navarrete, Nuria, Portales, Rosa García, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., Sánchez-Román, Julio, García-Hernández, Francisco José, Castillo, M. Jesús, Aguirre, M. Ángeles, Gómez-Gracia, Inmaculada, Fernández-Gutiérrez, Benjamín, Vicente, Esther, Andreu, José Luis, de Castro, Mónica Fernández, de la Peña, Paloma García, López-Longo, Francisco Javier, Martínez, Lina, Fonollosa, Vicente, Espinosa, Gerard, Castellví, Iván, Tolosa, Carlos, Pros, Anna, Carballeira, Mónica Rodríguez, Narváez, Francisco Javier, Díaz, Bernardino, Trapiella, Luis, Gallego, María, del Carmen Freire, María, Vaqueiro, Inés, Egurbide, María Victoria, Sáez-Comet, Luis, Díaz, Federico, Hernández, Vanesa, Beltrán, Emma, Román-Ivorra, José Andrés, García, Francisco J. Blanco, Robles, María Ángeles, Oreiro, Natividad, Miranda-Filloy, José A., Morado, Inmaculada C., Narváez, Javier, Gómez-Vaquero, Carmen, Sopeña, Bernardo, Unzurrunzaga, Ainhoa, Marí-Alfonso, Begoña, de Miguel, Eugenio, Hidalgo-Conde, Ana, Sánchez, Julio, and García, María J.

Abstract

Objective.We evaluated whether a single-nucleotide polymorphism (SNP) of the TRAF6gene previously associated with systemic lupus erythematosus and rheumatoid arthritis may be a common risk factor for systemic sclerosis (SSc) and giant cell arteritis (GCA).Methods.A total of 1185 patients with SSc, 479 patients with biopsy-proven GCA, and 1442 unrelated healthy controls of white Spanish origin were genotyped for the rs540386 variant using a specifically designed TaqMan©allele discrimination assay.Results.No significant associations of this SNP with global SSc or GCA were found. This was also the case when the potential associations of the TRAF6polymorphism with the main clinical phenotypes of the 2 diseases (e.g., limited cutaneous and diffuse cutaneous SSc, or presence of polymyalgia rheumatica and visual ischemic manifestations in GCA) were assessed.Conclusion.Our data do not support a role of the rs540386 TRAF6variant as a key component of the genetic network underlying SSc and GCA.

Published
2012
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20. A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn’s disease

Author

González-Serna, David, Ochoa, Eguzkine, López-Isac, Elena, Julià, Antonio, Degenhardt, Frauke, Ortego-Centeno, Norberto, Radstake, Timothy R. D. J., Franke, Andre, Marsal, Sara, Mayes, Maureen D., Martín, Javier, Márquez, Ana, Assassi, Shervin, Zhou, Xiaodong, Tan, Filemon K., Arnett, Frank C., Reveille, John D., Gorlova, Olga, Chen, Wei V., Ying, Jun, Gregersen, Peter K., Lee, Annette T., Voskuyl, Alexandre E., De Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Broen, Jasper, Koeleman, Bobby P. C., Simeón, Carmen P., Fonollosa, Vicente, Guillén, Alfredo, Carreira, Patricia, Castellví, Iván, González-Gay, Miguel A., Ríos, Raquel, Callejas-Rubio, Jose Luis, Vargas-Hitos, José A., García-Portales, Rosa, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., García-Hernández, Francisco José, Castillo, Ma. Jesús, Aguirre, Ma. Ángeles, Gómez-Gracia, Inmaculada, Rodríguez-Rodríguez, Luis, Fernández-Gutiérrez, Benjamín, De La Peña, Paloma García, Vicente, Esther, Andreu, José Luis, Fernández De Castro, Mónica, López-Longo, Francisco Javier, Martínez, Lina, Espinosa, Gerard, Tolosa, Carlos, Pros, Anna, Rodríguez-Carballeira, Mónica, Narváez, Francisco Javier, Rubio-Rivas, Manel, Ortiz-Santamaría, Vera, Madroñero, Ana Belén, Díaz, Bernardino, Trapiella, Luis, Sousa, Adrián, Egurbide, María Victoria, Fanlo-Mateo, Patricia, Sáez-Comet, Luis, Díaz-González, Federico, Hernández, Vanesa, Beltrán, Emma, Román-Ivorra, José Andrés, Grau, Elena, Alegre-Sancho, Juan José, Blanco-García, Francisco J., Oreiro, Natividad, Freire, Mayka, Balsa, Alejandro, Ortiz, Ana M., Hunzelmann, Nicolas, Riemekasten, Gabriela, Distler, Jörg H. W., Witte, Torsten, Airó, Paolo, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, and Gabrielli, Armando

Subjects
45, 692/699/249/2510, 45/43, article, 692/499, 3. Good health
Abstract

Genome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohn’s disease (CD), some of which confer susceptibility to both diseases. In order to identify new risk loci shared between these two immune-mediated disorders, we performed a cross-disease meta-analysis including GWAS data from 5,734 SSc patients, 4,588 CD patients and 14,568 controls of European origin. We identified 4 new loci shared between SSc and CD, IL12RB2, IRF1/SLC22A5, STAT3 and an intergenic locus at 6p21.31. Pleiotropic variants within these loci showed opposite allelic effects in the two analysed diseases and all of them showed a significant effect on gene expression. In addition, an enrichment in the IL-12 family and type I interferon signaling pathways was observed among the set of SSc-CD common genetic risk loci. In conclusion, through the first cross-disease meta-analysis of SSc and CD, we identified genetic variants with pleiotropic effects on two clinically distinct immune-mediated disorders. The fact that all these pleiotropic SNPs have opposite allelic effects in SSc and CD reveals the complexity of the molecular mechanisms by which polymorphisms affect diseases.

21. "There is something you must see": breaking down the remission concept in rheumatoid arthritis from a rheumatologist's perspective.

Author

Acebes C, Andreu JL, Balsa A, Batlle E, de Toro-Santos J, García Llorente F, Hernández MV, Fernandez-Guiterrez B, Hidalgo-Calleja C, Mayordomo L, Naredo E, Narváez FJ, Ortiz AM, Pablos JL, Pérez-Sandoval T, Rodriguez-Lozano C, Sánchez-Pernaute O, Usón J, Negrón JB, Loza E, Carmona L, Gómez Castro S, and Montoro Alvarez M

Subjects
Humans, Remission Induction, Severity of Illness Index, Terminology as Topic, Antirheumatic Agents therapeutic use, Arthritis, Rheumatoid drug therapy, Rheumatologists
Abstract

Objectives: To explore the remission concept in rheumatoid arthritis (RA) and the implications of the existing definitions when applied to clinical practice among rheumatologists with different profiles., Methods: A qualitative study through focus groups was conducted. Three focus groups were organised from February to March 2016. Each group was composed of rheumatologists with extensive clinical experience with different profiles; experts in basic research (RBR), experts in imaging techniques research (RIR), and experts in clinical research (RCR). The data was collected with audio recording. Verbatim transcriptions of the audio files were made, and a subsequent reflexive thematic analysis assisted by ATLAS.ti (GmbH, Berlin, v. 7) software was performed., Results: From the reflexive thematic analysis, three main themes were generated: (1) remission limitations, (2) instruments or measures to assess remission, and (3) a new definition of remission. Rheumatologists mentioned frequently that the following variables should be considered when developing a new remission definition: inflammatory activity, calprotectin, psychological variables, sex, disease stage, and sociocultural factors. Contrary to what could be expected, all groups acknowledged that their research field could contribute with domains for a gold standard remission instrument, but not in a hierarchical arrangement of importance. The dissonance existing in the entire remission evaluation process was outlined: remission in clinical practice versus remission in clinical trials, remission following the American College of Rheumatology (ACR)/European League Against Rheumatism (EULAR) Boolean versus Musculoskeletal Ultrasound (US) remission, and remission from the rheumatologist's point of view versus the patient's point of view., Conclusions: Currently, rheumatologists would not accept a domain as more important than others in remission. Our suggestion is, not to generate a universal definition of remission - one that could cover all aspects - but rather to develop definitions of remission for the different settings that could be pondered by the patient's perspective.

Published
2020

22. Exploring the remission concept in rheumatoid arthritis with patients and rheumatologists: time for a new approach?

Author

Acebes C, Andreu JL, Balsa A, Batlle E, de Toro-Santos J, García Llorente F, Hernández MV, Fernández-Gutiérrez B, Hidalgo-Calleja C, Mayordomo L, Naredo E, Narváez FJ, Ortiz AM, Pablos JL, Pérez-Sandoval T, Rodríguez-Lozano C, Sánchez-Pernaute O, Usón J, Negrón JB, Loza E, Carmona L, Gómez Castro S, and Montoro Alvarez M

Subjects
Arthritis, Rheumatoid diagnosis, Attitude of Health Personnel, Communication, Comprehension, Consensus, Focus Groups, Humans, Physician-Patient Relations, Qualitative Research, Remission Induction, Treatment Outcome, Antirheumatic Agents therapeutic use, Arthritis, Rheumatoid drug therapy, Health Knowledge, Attitudes, Practice, Patients psychology, Rheumatologists psychology, Terminology as Topic
Abstract

Objectives: To explore the remission concept in rheumatoid arthritis (RA) and to compare remission definitions and related concepts between rheumatologists and patients with the purpose of identifying similarities and disparities to comprehend the different perspectives of the disease., Methods: This was a qualitative study of discourse and content analysis through focus groups, conducted from February to March 2016. Four focus groups were set up, each one with different interests: rheumatologists involved in basic research (BR), rheumatologists with high specialisation in imaging techniques (IR), clinical rheumatologists (CR), and patients (PA)., Results: There is no consensus in a remission definition in RA; differences exist between-groups, rheumatologists and patients value remission differently, and there are discrepancies within the group of rheumatologists. Rheumatologists highlight quantifiable objective parameters, in contrast, patients did not consider objective measures as the best instruments, and they prefer subjective measures of remission. The data confirmed the existence of two sources of knowledge of the disease, technical (physicians) and experiential (patients). These sources of knowledge should concur in order to establish new remission criteria well-adjusted to reality., Conclusions: The lack of consensus between key groups implicated in defining remission and remission criteria suggests a new strategy for its operational definition. Our group proposes that subjects with a balance between experiential and technical knowledge, should be the ones in charge of this assignment.

Published
2017

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