المؤلفون: Nieto, Maria Asuncion, Sanchez-Pernaute, Olga, Vadillo, Cristina, Rodriguez-Nieto, Maria Jesus, Romero-Bueno, Fredeswinda, López-Muñiz, Belen, Cebrian, Laura, Rio-Ramirez, Maria Teresa, Laporta, Rosalia, Bonilla, Gema, Cobo, Tatiana, Leon, Leticia, Abasolo, Lydia, Lores, Irene Martín, de Castro, Ana Bustos Garcia, Pernaute, Olga Sanchez, Palacios, Carmelo, Carrera, Luis Gomez, Ortega, Gemma Mora, López-Muñiz, Belén, Cebrián, Laura, Godoy, Hilda, Cubas, Irene Llorente, Valenzuela, Claudia, de Vicuña, Rosario Garcia, Jauregui, Ana, Rigual, Juan, Martos, Jesús Loarce, Hita, Jose Luis Morell

المصدر: Respiratory Research ; volume 24, issue 1 ; ISSN 1465-993X

الوصف: Background The objective of the present study is to describe the characteristics of interstitial pneumonia with autoimmune features (IPAF) patients, to assess the incidence rate of functional respiratory impairment over time and to evaluate the influence of therapeutic alternatives on the prognosis of these patients. Methods A longitudinal observational multicenter study was performed (NEREA registry). It was carried out by a multidisciplinary team in seven Hospitals of Madrid. Patients were included from IPAF diagnosis. Main outcome: poor prognosis as functional respiratory impairment (relative decline in FVC % defined as ≥ 5% every 6 months). Covariates: therapy, sociodemographic, clinical, radiological patterns, laboratory and functional tests. Statistics: Survival techniques were used to estimate IR per 100 patients-semester with their 95% confidence interval [CI]. The influence of covariates in prognosis were analyzed through cox multivariate regression models (hazard ratio (HR) and [CI]). Results 79 IPAF were included, with a mean and a maximum follow-up of 3.17 and 12 years respectively. Along the study, 77.2% received treatment (52 glucocorticoids, 25 mycophenolate, 21 azathioprine, 15 rituximab and 11 antifibrotics). IR was 23.9 [19.9–28.8], and 50% of IPAF developed functional respiratory impairment after 16 months from its diagnosis. Multivariate analysis: usual interstitial pneumonia (UIP) had poorer prognosis compared to non-specific interstitial pneumonia (NSIP) (p = 0.001). In NSIP, positive ANA, increased the risk of poor prognosis. In UIP, glucocorticoids (HR: 0.53 [0.34–0.83]), age (HR: 1.04 [1.01–1.07]), and Ro-antibodies (HR: 0.36 [0.19–0.65]) influenced the prognosis. Conclusions IPAF have functional impairment during the first years of disease. Factors predicting deterioration differ between radiographic patterns. Our real-life study suggests the potential benefit of particular therapies in IPAF.

الإتاحة: https://doi.org/10.1186/s12931-023-02317-5Test

المؤلفون: Romero-Bueno, Fredeswinda Isabel, Rodríguez-Nieto, Maria Jesús, Palacios Miras, Carmelo, Martínez Estupiñ�n, Lina, Martínez-Becerra, Maria José, Vegas Sánchez, Maria Carmen, Cedeño Díaz, Oderay Mabel, Sánchez-Pernaute, Olga

المصدر: Frontiers in Medicine ; volume 10 ; ISSN 2296-858X

الوصف: Objectives To assess performance of interstitial pneumonia (IP) with autoimmune features (IPAF) criteria in clinical practice and describe the utility of additional workup in identifying patients with underlying connective tissue diseases (CTD). Methods We set a retrospective study of our patients with autoimmune IP, who were allocated to CTD-IP, IPAF or undifferentiated autoimmune IP (uAIP) subgroups according to the updated classification criteria. Presence of the process-related variables comprising IPAF defining domains was scrutinized in all patients, and, when available, the results of nailfold videocapillaroscopy (NVC) were recorded. Results Thirty nine out of 118 patients, accounting for 71% of former undifferentiated cases, fulfilled IPAF criteria. Arthritis and Raynaud’s phenomenon were prevalent in this subgroup. While systemic sclerosis-specific autoantibodies were restricted to CTD-IP patients, anti-tRNA synthetase antibodies were also present in IPAF. In contrast, rheumatoid factor, anti-Ro antibodies and ANA nucleolar patterns could be found in all subgroups. Usual interstitial pneumonia (UIP) / possible UIP were the most frequently observed radiographic patterns Therefore, the presence of thoracic multicompartimental findings as also performance of open lung biopsies were useful in characterizing as IPAF those UIP cases lacking a clinical domain. Interestingly, we could observe NVC abnormalities in 54% of IPAF and 36% of uAIP tested patients, even though many of them did not report Raynaud’s phenomenon. Conclusion Besides application of IPAF criteria, distribution of IPAF defining variables along with NVC exams help identify more homogeneous phenotypic subgroups of autoimmune IP of potential relevance beyond clinical diagnosis.

الإتاحة: https://doi.org/10.3389/fmed.2023.1057643Test

المؤلفون: Rodrigo-Muñoz, José Manuel, Naharro-González, Sara, Callejas, Sergio, Relaño-Ruperez, Carlos, Torroja, Carlos, Benguria, Alberto, Lorente-Sorolla, Clara, Gil-Martínez, Marta, García de Castro, Zahara, Cañas, José Antonio, Valverde-Monge, Marcela, Bernaola, Jaime, Pinillos-Robles, Erwin Javier, Betancor, Diana, Fernández-Nieto, Mar, Dopazo, Ana, Sánchez-Cabo, Fátima, Sánchez-Pernaute, Olga, Rodríguez-Nieto, María Jesús, Sastre, Joaquín, Del Pozo, Victoria

المصدر: Allergy ; ISSN:1398-9995

العلاقة: https://doi.org/10.1111/all.16213Test; https://pubmed.ncbi.nlm.nih.gov/38934897Test

الإتاحة: https://doi.org/10.1111/all.16213Test
https://pubmed.ncbi.nlm.nih.gov/38934897Test

المؤلفون: Pérez-jurado, Luis A., Cáceres, Alejandro, Balagué-dobón, Laura, Esko, Tonu, López de Heredia, Miguel, Quintela, Inés, Cruz, Raquel, Lapunzina, Pablo, Carracedo, Ángel, Abellán, Javier, Acosta-isaac, René, Tavares, Nathali A. C., Carvalho, Maria C. C., Dalmau, David, Dantas-komatsu, Raquel C. S., Darnaude, M. Teresa, De Andrés, Raimundo, De Juan, Carmen, De La Cruz Troca, Juan J., De La Horra, Carmen, De La Hoz, Ana B., Aguado, Jose María, De Martino-rodríguez, Alba, Cruz, Marina S., De Sousa Alves Neri, Julianna Lys, Del Campo-pérez, Victor, Delgado-cuesta, Juan, Diaz De Bustamante, Aranzazu, Díaz-pérez, Anderson, Dietl, Beatriz, Diz-de Almeida, Silvia, Do Monte Alves, Manoella, Aguilar, Carlos, Domínguez-garrido, Elena, Rosa, Lidia S., Luchessi, Andre D., Echave-sustaeta, Jose, Eiros, Rocío, Enciso-olivera, César O., Escudero, Gabriela, España, Pedro Pablo, Estigarribia Sanabria, Gladys, Fariñas, María Carmen, Aguilera-albesa, Sergio, Fernández, Ramón, Fernández-caballero, Lidia, Fernández-cruz, Ana, Fernández-ferrero, Silvia, Fernández Martínez, Yolanda, Fernandez-nestosa, María J., Fernández-robelo, Uxía, Fernández-rodríguez, Amanda, Fernández-sampedro, Marta, Fernández, Ruth, Ahmadi Sabbagh, Abdolah, Fernández-villa, Tania, Fernández-capitán, Carmen, Carioca, Antonio Augusto F., Flores-pérez, Patricia, Fuenmayor-hernández, Lácides, Fuertes-núñez, Marta, Fumadó, Victoria, Gadea, Ignacio, Gagliardi, Lidia, Gago-domínguez, Manuela, Alba, Jorge, Gallego, Natalia, Galoppo, Cristina, García-soidán, Ana, García-cerrada, Carlos, García-de-vicuña, Aitor, Garcia-garcía, Josefina, García-garcía, Irene, García-ibarbia, Carmen, García-montero, Andrés C., García, Leticia, Albu, Sergiu, García, Mercedes, García Torrejón, María Carmen, García, Inés, García-vázquez, Elisa, Garza-frias, Emiliano, Gentile, Angela, Gil-fournier, Belén, De Araújo, Jéssica N. G., Gómez-duque, Mario, Gómez-arrue, Javier, Alcalá-gallardo, Karla A. M., Gómez Carrera, Luis, Gómez García, María, Gómez Sacristán, Ángela, González, Juan R., González-neira, Anna, González Álvarez, Beatriz, González Bernaldo De Quirós, Fernán, González-montelongo, Rafaela, González-peñas, Javier, Gonzalez-sagrado, Manuel, Alcoba-florez, Julia, Gonzalo-benito, Hugo, Gorgojo-galindo, Oscar, Górgolas, Miguel, Guaragna, Florencia, Chaux, Jessica G., Guillén-navarro, Encarna, Guillén-guío, Beatriz, Guisado-vasco, Pablo, Gutiérrez-castañeda, Luz D., Gutiérrez-bautista, Juan F., Alcolea Batres, Sergio, Heili-frades, Sara, Jacomo, Rafael H., Hernández, Estefania, Hernández-moro, Cristina, Hernández-ortega, Luis D., Hernández-pérez, Guillermo, Hernández-vaquero, Rebeca, Herráez, Belén, Herranz, M. Teresa, Herrera, María, Algarin-lara, Holmes Rafael, Herrero, María José, Herrero-gonzález, Antonio, Horcajada, Juan P., Imaz-ayo, Natale, Intxausti-urrutibeaskoa, Maider, Íñigo-campos, Antonio, Íñiguez, María, Jara, Rubén, Jiménez, Ángel, Jiménez-alfaro, Ignacio, Almadana, Virginia, Jiménez, Pilar, Jiménez-sousa, María A., Jordan, Iolanda, Laguna-goya, Rocío, Laorden, Daniel, Lasa-lázaro, María, Lattig, María Claudia, Lauriente, Ailen, Liger Borja, Anabel, Llanos, Lucía, Medeiros, Kelliane A., López-bernús, Amparo, López De Heredia, Miguel, Lopez-garcia, Esther, López-granados, Eduardo, Lopez-rodriguez, Rosario, López-ruz, Miguel A., Lorente, Leonardo, Lorenzo-salazar, José M., Lozano, José E., Lozano-espinosa, María, Almeida, Julia, Mahillo, Ignacio, Mancebo, Esther, Mar, Carmen, Marcelo Calvo, Cristina, Marcos-delgado, Alba, Marcos, Miguel, Marín-candón, Alicia, Mariscal-aguilar, Pablo, Martin-pedraza, Laura, Martin-fernandez, Marta, Almoguera, Berta, Martín-lópez, Caridad, Martín-oterino, José-Ángel, Martín, María Dolores, Martín, Vicente, Martín, María M., Martín-vicente, María, Martinez, Amalia, Martínez-gonzález, Óscar, Martínez, Ricardo, Martinez-paz, Pedro, Alonso, María R., Díaz-caneja, Covadonga M., Martínez-nieto, Óscar, Martínez-lópez, Iciar, Martínez-reséndez, Michel F., Martínez, Silvia, Martínez, Juan José, Martínez-pérez, Ángel, Martínez-ramas, Andrea, Martínez-robles, Violeta, Marzal, Laura, Álvarez, Nuria, Mazzeu, Juliana F., Medrano, Francisco J., Meijome, Xose M., Mejuto-montero, Natalia, Mendes, Ingrid, Duarte, Alice L., Méndez-echevarría, Ana, Mendoza Charris, Humberto, Merayo Macías, Eleuterio, Mercadillo, Fátima, Álvarez-sala Walther, Rodolfo, Mercado-sesma, Arieh R., Mínguez, Pablo, Molina-roldán, Elena, Molina, Antonio J. J., Montoya, Juan José, Pinho, Susana M. T., Moreira-escriche, Patricia, Morelos-arnedo, Xenia, Moreno, Rocío, Moreno Cuerda, Víctor, Álvarez-benítez, Yady, Moreno-docón, Antonio, Moreno-escalante, Junior, Moreno Fernández, Alberto, Muñoz García, Patricia, Neira, Pablo, Nevado, Julián, Nieto-gañán, Israel, Silbiger, Vivian N., Nuñez-torres, Rocío, Obrador-hevia, Antònia, Álvarez-navia, Felipe, Ocejo-vinyals, J. Gonzalo, Olivar, Virginia, Oliveira, Silviene F., Ondo, Lorena, Orfao, Alberto, Ortega-paino, Eva, Ortega, Luis, Ortiz-lópez, Rocío, Ortiz-flores, Fernando, Oteo, José A., Dos Santos, Katiusse A., Pacheco, Manuel, Pacheco-miranda, Fredy Javier, Padilla-conejo, Irene, Panadero-fajardo, Sonia, Parellada, Mara, Pariente-rodríguez, Roberto, Friaza, Vicente, Paz-artal, Estela, Peces-barba, Germán, Pedromingo Kus, Miguel S., Andreu-bernabeu, Álvaro, Perales, Celia, Santos, Ney P. C., Guegel, Genilson P., Pérez, María Jazmín, Pérez, Alexandra, Pérez-matute, Patricia, Pérez, César, Pérez-de-nanclares, Gustavo, Pérez-garcía, Felipe, Pérez, Patricia, Antonijoan, Maria Rosa, Pérez-tomás, M. Elena, Perucho, Teresa, Pichardo, Lisbeth A., Ribeiro, Adriana P., Pinsach-abuin, Mel·lina, Pinzón, Luz Adriana, Medeiros, Jeane F. P., Pita, Guillermo, Pla-juncà, Francesc, Planas-serra, Laura, Martínez-aquino, Eleno, Pompa-mera, Ericka N., Porras-hurtado, Gloria L., Pujol, Aurora, Quevedo-chávez, María Eugenia, Quijada, Maria Angeles, Ramiro-león, Soraya, Rascado Sedes, Pedro, Nunes, Joana F. R., Recalde, Delia, Arana-arri, Eunate, Recio-fernández, Emma, Resino, Salvador, Sousa, Renata R., Rivadeneira-chamorro, Carlos S., Roa-agudelo, Diana, Robelo Pardo, Montserrat, Fernandes, Marianne R., Rodríguez-hernández, María A., Rodriguez-palmero, Agustí, Rodríguez-ruiz, Emilio, Aranda, Carlos, Rodriguez, Marilyn Johanna, Rodríguez-artalejo, Fernando, Rodríguez-ferrer, Marena, Rodríguez-gallego, Carlos, Rodríguez-garcía, José A., Maya, Belén Rodríguez, Rodriguez-nicolas, Antonio, Rodríguez-novoa, German Ezequiel, Rodriguez-urrego, Paula A., Rojo, Federico, Arango, Celso, Romero-coronado, Andrea, Morilla, Rubén, Rondón-garcía, Filomeno, Rosales-castillo, Antonio, Rubio, Cladelis, Olivera, María Rubio, Ruiz-cabello, Francisco, Ruiz-casares, Eva, Ruiz-cubillan, Juan J., Ruiz-hornillos, Javier, Araque, Carolina, Ruiz, Montserrat, Ryan, Pablo, Salamanca, Hector D., Salazar-garcía, Lorena, Salgueiro-origlia, Giorgina Gabriela, Sangil, Anna, Sánchez-pernaute, Olga, Sánchez, Pedro-luis, Sánchez López, Antonio J., Sánchez-pablo, Clara, Araujo, Nathalia K., Sánchez-prados, María Concepción, Sánchez-real, Javier, Sánchez-redondo, Jorge, Sancho-sainz, Cristina, Sande, Esther, Santos, Arnoldo, Schlüter, Agatha, Segovia, Sonia, Serra-llovich, Alex, Sevil-puras, Fernando, Arcanjo, Ana C., Sevilla-porras, Marta, Sicolo, Miguel A., Silván-fuentes, Cristina, Moraes, Vitor M. S., Souza, Vanessa S., Solé-violán, Jordi, Soria, José Manuel, Sorlí, Jose V., Silva, Nayara S., Souto, Juan Carlos, Arnaiz, Ana, Sprockel, John J., Suárez-rama, José Javier, Suárez-zamora, David A., Taboada-fraga, Xiana, Tamayo, Eduardo, Tamayo-velasco, Alvaro, Taracido-fernández, Juan Carlos, Vasconcelos, Romero H. T., Tellería, Carlos, Carratto, Thássia M. T., Arnalich Fernández, Francisco, Tenorio-castaño, Jair Antonio, Teper, Alejandro, Araujo, Izabel M. T., Torres-macho, Juan, Torres-tobar, Lilian, Torres-gutiérrez, Ronald P., Troya, Jesús, Urioste, Miguel, Valencia-ramos, Juan, Valido, Agustín, Arranz, María J., Vargas-gallo, Juan Pablo, Varón, Belén, Vega, Tomas, Velasco-quirce, Santiago, Vélez-santamaría, Valentina, Víctor, Virginia, Vidán-estévez, Julia, Silva, Gabriela V., Vieitez-santiago, Miriam, Vilches, Carlos, Arribas López, José Ramón, Villalobos, Lavinia, Villar, Felipe, Villar-garcia, Judit, Villaverde, Cristina, Villoslada-blanco, Pablo, Virseda-berdices, Ana, Costa, Tatiana X., Yáñez, Zuleima, Zapatero-gaviria, Antonio, Zarate, Ruth, Artiga, Maria-jesús, Zazo, Sandra, Flores, Carlos, Riancho, José A., Rojas-martinez, Augusto, Scourge Cohort Group, Avello-malaver, Yubelly, Ayuso, Carmen, Ballina Martín, Belén, Baptista-rosas, Raúl C., Baldion, Ana María, Barranco-díaz, Andrea, Barreda-sánchez, María, Barrera-penagos, Viviana, Belhassen-garcia, Moncef, Bernal-bello, David, Bernal, Enrique, Bezerra, Joao F., Bezerra, Marcos A. C., Blanca-lópez, Natalia, Blancas, Rafael, Boix-palop, Lucía, Borobia, Alberto, Bravo, Elsa, Brion, María, Brochado-kith, Óscar, Brugada, Ramón, Bustos, Matilde, Cabello, Alfonso, Cáceres-agra, Juan J., Calbo, Esther, Calderón, Enrique J., Camacho, Shirley, Ceballos, Francisco C., Cañadas, Yolanda, Carbonell, Cristina, Cardona-huerta, Servando, Sánchez-carpintero Abad, María, Carpio Segura, Carlos, Carrillo-avila, José Antonio, Campos, Marcela C., Casasnovas, Carlos, Castaño, Luis, Castaño, Carlos F., Castelao, Jose E., Castellano Candalija, Aranzazu, Castillo, María A., Chaves-santiago, Walter G., Chiquillo-gómez, Sylena, Cid-lópez, Marco A., Cienfuegos-jiménez, Óscar, Conde-vicente, Rosa, Cunha, Gabriela C. R., Cordero-lorenzana, M. Lourdes, Corella, Dolores, Corrales, Almudena, Cortés-sánchez, Jose L., Corton, Marta, Souza, Karla S. C., Silva, Fabiola T. C., Cuesta, Luisa

المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

الوصف: The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality.

وصف الملف: application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.1038/s42003-024-05805-6Test; Communications Biology, 2024, vol. 7, issue. 1; https://doi.org/10.1038/s42003-024-05805-6Test; http://hdl.handle.net/2445/211324Test

الإتاحة: https://doi.org/10.1038/s42003-024-05805-6Test
http://hdl.handle.net/2445/211324Test

المؤلفون: Del Pozo-Valero, Marta, Corton, Marta, López-Rodríguez, Rosario, Mahillo-Fernández, Ignacio, Ruiz-Hornillos, Javier, Minguez, Pablo, Villaverde, Cristina, Pérez-Tomás, María Elena, Barreda-Sánchez, María, Mancebo, Esther, Fernández-Caballero, Lidia, Sanchez, Ruth Fernández, Vara, Inés García, Gordo, Laura Marzal, Martínez-Ramas, Andrea, Ondo, Lorena, Romero, Raquel, Górgolas, Miguel, Cabello, Alfonso, Barba, Germán Peces, Heili, Sara, Calvo, César, Santos, Arnoldo, Ríos, María Dolores Martín, Sánchez-Pernaute, Olga, Llanos, Lucía, Zazo, Sandra, Rojo, Federico, Villar, Felipe, de Andrés, Raimundo, Alfaro, Ignacio Jiménez, Gadea, Ignacio, Perales, Celia, Herrero, Antonio, Taracido, Juan Carlos, García-Vázquez, Elisa, Jara-Rubio, Rubén, Pons-Miñano, José A., Marín-Martínez, Juana María, Herranz-Marín, María Teresa, Bernal-Morell, Enrique, García-García, Josefina, de Dios González-Caballero, Juan, Chirlaque-López, María Dolores, Minguela-Puras, Alfredo, Muro-Amador, Manuel, Moreno-Docón, Antonio, Yagüe-Guirao, Genoveva, Abellán-Perpiñán, José M., Martínez-Pérez, Jorge E.

المصدر: GeroScience ; volume 45, issue 1, page 543-553 ; ISSN 2509-2715 2509-2723

مصطلحات موضوعية: Geriatrics and Gerontology, Aging

الوصف: Clonal hematopoiesis, especially that of indeterminate potential (CHIP), has been associated with age-related diseases, such as those contributing to a more severe COVID-19. Four studies have attempted to associate CHIP with COVID-19 severity without conclusive findings. In the present work, we explore the association between CHIP and COVID-19 mortality. Genomic DNA extracted from peripheral blood of COVID-19 patients ( n = 241 deceased, n = 239 survivors) was sequenced with the Myeloid Solutions™ panel of SOPHiA Genetics. The association between clonality and age and clonality and mortality was studied using logistic regression models adjusted for sex, ethnicity, and comorbidities. The association with mortality was performed with patients stratified into four groups of age according to the quartiles of the distribution: 60–74 years, 75–84 years, 85–91 years, and 92–101 years. Clonality was found in 38% of the cohort. The presence of CHIP variants, but not the number, significantly increased with age in the entire cohort of COVID-19 patients, as well as in the group of survivors ( p < 0.001). When patients were stratified by age and the analysis adjusted, CHIP classified as pathogenic/likely pathogenic was significantly more represented in deceased patients compared with survivors in the group of 75–84 years (34.6% vs 13.7%, p = 0.020). We confirmed the well-established linear relationship between age and clonality in the cohort of COVID-19 patients and found a significant association between pathogenic/likely pathogenic CHIP and mortality in patients from 75 to 84 years that needs to be further validated.

الإتاحة: https://doi.org/10.1007/s11357-022-00666-5Test

المؤلفون: López-Rodríguez, Rosario, Del Pozo-Valero, Marta, Corton, Marta, Minguez, Pablo, Ruiz-Hornillos, Javier, Pérez-Tomás, María Elena, Barreda-Sánchez, María, Mancebo, Esther, Villaverde, Cristina, Núñez-Moreno, Gonzalo, Romero, Raquel, Fernández-Caballero, Lidia, Fernández Sanchez, Ruth, García Vara, Inés, Marzal Gordo, Laura, Martinez-Ramas, Andrea, Ondo, Lorena, Górgolas, Miguel, Cabello, Alfonso, Barba, Germán Peces, Heili, Sara, Calvo, César, Ríos, María Dolores Martín, Santos, Arnoldo, Sánchez-Pernaute, Olga, Llanos, Lucía, Zazo, Sandra, Rojo, Federico, Villar, Felipe, de Andrés, Raimundo, Alfaro, Ignacio Jiménez, Gadea, Ignacio, Perales, Celia, Juarez, Yolanda Cañadas, Mahillo, Ignacio, Herrero, Antonio, Taracido, Juan Carlos, García-Vázquez, Elisa, Jara-Rubio, Rubén, Pons-Miñano, José A., Marín-Martínez, Juana M., Herranz-Marín, M. Teresa, Bernal-Morell, Enrique, García-García, Josefina, de Dios González-Caballero, Juan, Chirlaque-López, M. Dolores, Minguela-Puras, Alfredo, Muro-Amador, Manuel, Moreno-Docón, Antonio, Yagüe-Guirao, Genoveva

المساهمون: Instituto de Salud Carlos III, Spanish Ministry of Science and Innovation, Instituto de Salud Carlos III, Miguel Servet Contract, Comunidad de Madrid, Contract of the Comunidad de Madrid, Postdoctoral fellowship of the Comunidad de Madrid

المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الوصف: Rare variants affecting host defense against pathogens could be involved in COVID-19 severity and may help explain fatal outcomes in young and middle-aged patients. Our aim was to report the presence of rare genetic variants in certain genes, by using whole exome sequencing, in a selected group of COVID-19 patients under 65 years who required intubation or resulting in death (n = 44). To this end, different etiopathogenic mechanisms were explored using gene prioritization-based analysis in which genes involved in immune response, immunodeficiencies or blood coagulation were studied. We detected 44 different variants of interest, in 29 different patients (66%). Some of these variants were previously described as pathogenic and were located in genes mainly involved in immune response. A network analysis, including the 42 genes with candidate variants, showed three main components, consisting of 25 highly interconnected genes related to immune response and two additional networks composed by genes enriched in carbohydrate metabolism and in DNA metabolism and repair processes. In conclusion, we have detected candidate variants that may potentially influence COVID-19 outcome in our cohort of patients. Further studies are needed to confirm the ultimate role of the genetic variants described in the present study on COVID-19 severity.

الإتاحة: https://doi.org/10.1038/s41598-022-14035-xTest
https://www.nature.com/articles/s41598-022-14035-x.pdfTest
https://www.nature.com/articles/s41598-022-14035-xTest

المؤلفون: Boteanu, Alina, Leon, Leticia, Pérez Esteban, Silvia, Rabadán Rubio, Elena, Pavía Pascual, Marina, Bonilla, Gema, Bonilla González-Laganá, Carmen, García Fernandez, Antia, Recuero Diaz, Sheila, Ruiz Gutierrez, Lucia, Sanmartín Martínez, José Javier, de la Torre-Rubio, Natalia, Nuño, Laura, Sánchez Pernaute, Olga, del Bosque, Iván, Lojo Oliveira, Leticia, Rodríguez Heredia, José Manuel, Clemente, Daniel, Abasolo, Lydia, Bachiller-Corral, Javier

المصدر: Modern Rheumatology ; volume 34, issue 1, page 97-105 ; ISSN 1439-7595 1439-7609

مصطلحات موضوعية: Rheumatology

الوصف: Objectives The aim of this study is to evaluate risk factors for severe coronavirus disease 2019 (COVID-19) in patients with immune-mediated rheumatic diseases, stratified by systemic autoimmune conditions and chronic inflammatory arthritis. Methods An observational, cross-sectional multicentre study was performed. Patients from 10 rheumatology departments in Madrid who presented with severe acute respiratory syndrome coronavirus-2 infection between February 2020 and May 2021 were included. The main outcome was COVID-19 severity (hospital admission or mortality). Risk factors for severity were estimated, adjusting for covariates (socio-demographic, clinical, and treatments), using logistic regression analyses. Results In total, 523 patients with COVID-19 were included, among whom 192 (35.6%) patients required hospital admission and 38 (7.3%) died. Male gender, older age, and comorbidities such as diabetes mellitus, hypertension, and obesity were associated with severe COVID-19. Corticosteroid doses >10 mg/day, rituximab, sulfasalazine, and mycophenolate use, were independently associated with worse outcomes. COVID-19 severity decreased over the different pandemic waves. Mortality was higher in the systemic autoimmune conditions (univariate analysis, P < .001), although there were no differences in the overall severity in the multivariate analysis. Conclusions This study confirms and provides new insights regarding the harmful effects of corticosteroids, rituximab, and other therapies (mycophenolate and sulfasalazine) in COVID-19. Methotrexate and anti-tumour necrosis factor therapy were not associated with worse outcomes.

الإتاحة: https://doi.org/10.1093/mr/roac148Test
https://academic.oup.com/mr/article-pdf/34/1/97/54800055/roac148.pdfTest

المؤلفون: Boteanu, Alina, Leon, Leticia, Pérez Esteban, Silvia, Rabadán Rubio, Elena, Pavía Pascual, Marina, Bonilla, Gema, Bonilla González-Laganá, Carmen, García Fernandez, Antia, Recuero Diaz, Sheila, Ruiz Gutierrez, Lucia, Sanmartín Martínez, José Javier, de la Torre-Rubio, Natalia, Nuño, Laura, Sánchez Pernaute, Olga, del Bosque, Iván, Lojo Oliveira, Leticia, Rodríguez Heredia, José Manuel, Clemente, Daniel, Abasolo, Lydia, Bachiller-Corral, Javier

المصدر: Modern Rheumatology; Jan2024, Vol. 34 Issue 1, p97-105, 9p

مصطلحات موضوعية: SARS-CoV-2, RHEUMATISM, COVID-19

مصطلحات جغرافية: MADRID (Spain)

مستخلص: Objectives: The aim of this study is to evaluate risk factors for severe coronavirus disease 2019 (COVID-19) in patients with immune-mediated rheumatic diseases, stratified by systemic autoimmune conditions and chronic inflammatory arthritis. Methods: An observational, cross-sectional multicentre study was performed. Patients from 10 rheumatology departments in Madrid who presented with severe acute respiratory syndrome coronavirus-2 infection between February 2020 and May 2021 were included. The main outcome was COVID-19 severity (hospital admission or mortality). Risk factors for severity were estimated, adjusting for covariates (socio-demographic, clinical, and treatments), using logistic regression analyses. Results: In total, 523 patients with COVID-19 were included, among whom 192 (35.6%) patients required hospital admission and 38 (7.3%) died. Male gender, older age, and comorbidities such as diabetes mellitus, hypertension, and obesity were associated with severe COVID-19. Corticosteroid doses >10 mg/day, rituximab, sulfasalazine, and mycophenolate use, were independently associated with worse outcomes. COVID-19 severity decreased over the different pandemic waves. Mortality was higher in the systemic autoimmune conditions (univariate analysis, P < .001), although there were no differences in the overall severity in the multivariate analysis. Conclusions: This study confirms and provides new insights regarding the harmful effects of corticosteroids, rituximab, and other therapies (mycophenolate and sulfasalazine) in COVID-19. Methotrexate and anti-tumour necrosis factor therapy were not associated with worse outcomes. [ABSTRACT FROM AUTHOR]

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المؤلفون: Remuzgo-Martínez, Sara, Atienza-Mateo, Belén, Ocejo-Vinyals, J. Gonzalo, Pulito-Cueto, Verónica, Prieto-Peña, Diana, Genre, Fernanda, Márquez, Ana, Llorca, Javier, Mora Cuesta, Víctor M., Fernández, David Iturbe, Riesco, Laura, Ortego-Centeno, Norberto, Pérez Gómez, Nair, Mera, Antonio, Martínez Barrio, Julia, López Longo, Francisco Javier, Lera-Gómez, Leticia, Moriano, Clara, Díez, Elvira, Tornero, Eva, Calvo-Alén, Jaime, Romero-Bueno, Fredeswinda, Sánchez-Pernaute, Olga, Nuño, Laura, Bonilla, Gema, Grafia, Ignacio, Prieto-González, Sergio, Narváez, Javier, Trallero-Araguas, Ernesto, Selva-O'Callaghan, Albert, Gualillo, Oreste, Martín, Javier, Cabagna, Lorenzo, Catañeda, Santos, Cifrian, José M., Renzoni, Elizabetta A., López-Mejías, Raquel, González Gay, M. A.

المساهمون: Foundation for Research in Rheumatology, Instituto de Salud Carlos III, European Commission, Servicio Cántabro de Salud, Instituto de Investigación Marqués de Valdecilla, Xunta de Galicia, Scleroderma and Raynaud's UK, Versus Arthritis

مصطلحات موضوعية: Anti-synthetase syndrome, Anti-Jo-1 antibodies, HLA, HLA-DRB1*03:01, HLA-B*08:01, HLA-DRB1*07:01

الوصف: Objective: To investigate the human leukocyte antigen (HLA) association with anti-synthetase syndrome (ASSD). Methods: We conducted the largest immunogenetic HLA-DRB1 and HLA-B study to date in a homogeneous cohort of 168 Caucasian patients with ASSD and 486 ethnically matched healthy controls by sequencing-based-typing. Results: A statistically significant increase of HLA-DRB1*03:01 and HLA-B*08:01 alleles in patients with ASSD compared to healthy controls was disclosed (26.2% versus 12.2%, P = 1.56E–09, odds ratio–OR [95% confidence interval–CI] = 2.54 [1.84–3.50] and 21.4% versus 5.5%, P = 18.95E–18, OR [95% CI] = 4.73 [3.18–7.05]; respectively). Additionally, HLA-DRB1*07:01 allele was significantly decreased in patients with ASSD compared to controls (9.2% versus 17.5%, P = 0.0003, OR [95% CI] = 0.48 [0.31–0.72]). Moreover, a statistically significant increase of HLA-DRB1*03:01 allele in anti-Jo-1 positive compared to anti-Jo-1 negative patients with ASSD was observed (31.8% versus 15.5%, P = 0.001, OR [95% CI] = 2.54 [1.39–4.81]). Similar findings were observed when HLA carrier frequencies were assessed. The HLA-DRB1*03:01 association with anti-Jo-1 was unrelated to smoking history. No HLA differences in patients with ASSD stratified according to the presence/absence of the most representative non-anti-Jo-1 anti-synthetase autoantibodies (anti-PL-12 and anti-PL-7), arthritis, myositis or interstitial lung disease were observed. Conclusions: Our results support the association of the HLA complex with the susceptibility to ASSD. ; This study was partially supported by grants from the Foundation for Research in Rheumatology (FOREUM); SR-M is supported by funds of the RETICS Program [grant number RD16/0012/0009] from the `Instituto de Salud Carlos III´ (ISCIII), co-funded by the European Regional Development Fund (ERDF); BA-M is a recipient of a ‘López Albo’ Post-Residency Programme funded by Servicio Cántabro de Salud; VP-C is supported by a pre-doctoral grant from IDIVAL [grant number PREVAL 18/01]; LL-G is ...

العلاقة: Publisher's version; http://dx.doi.org/10.1016/j.jbspin.2020.105115Test; Sí; JOINT BONE SPINE 88 (2021); http://hdl.handle.net/10261/358806Test; http://dx.doi.org/10.13039/501100010801Test; http://dx.doi.org/10.13039/501100004587Test

الإتاحة: https://doi.org/10.1016/j.jbspin.2020.10511510.13039/50110001080110.13039/501100004587Test
http://hdl.handle.net/10261/358806Test

المؤلفون: Remuzgo Martínez, Sara, Atienza Mateo, Belén, Ocejo Vinyals, J. Gonzalo, Genre, Fernanda, Pulito Cueto, Verónica, Mora Cuesta, Víctor M., Iturbe Fernández, David, Lera Gómez, Leticia, Pérez Fernández, Raquel, Prieto Peña, Diana, Irure, Juan, Romero Bueno, Fredeswinda, Sanchez Pernaute, Olga, Alonso Moralejo, Rodrigo, Nuño, Laura, Bonilla, Gema, Vicente Rabaneda, Esther F., Grafia, Ignacio, Cifrián Martínez, José Manuel, González-Gay Mantecón, Miguel Ángel

المساهمون: Universidad de Cantabria

المصدر: Sci Rep 11, 22574 (2021)

مصطلحات موضوعية: Idiopathic inflammatory myopathies, Biomarkers

الوصف: Mucin 1/Krebs von den Lungen-6 (KL-6) is proposed as a serum biomarker of several interstitial lung diseases (ILDs), including connective tissue disorders associated with ILD. However, it has not been studied in a large cohort of Caucasian antisynthetase syndrome (ASSD) patients. Consequently, we assessed the role of MUC1 rs4072037 and serum KL-6 levels as a potential biomarker of ASSD susceptibility and for the differential diagnosis between patients with ILD associated with ASSD (ASSD-ILD?+) and idiopathic pulmonary fibrosis (IPF). 168 ASSD patients (149 ASSD-ILD?+), 174 IPF patients and 523 healthy controls were genotyped for MUC1 rs4072037 T?>?C. Serum KL-6 levels were determined in a subgroup of individuals. A significant increase of MUC1 rs4072037 CC genotype and C allele frequencies was observed in ASSD patients compared to healthy controls. Likewise, MUC1 rs4072037 TC and CC genotypes and C allele frequencies were significantly different between ASSD-ILD+ and IPF patients. Additionally, serum KL-6 levels were significantly higher in ASSD patients compared to healthy controls. Nevertheless, no differences in serum KL-6 levels were found between ASSD-ILD+ and IPF patients. Our results suggest that the presence of MUC1 rs4072037 C allele increases the risk of ASSD and it could be a useful genetic biomarker for the differential diagnosis between ASSD-ILD+ and IPF patients.

العلاقة: https://doi.org/10.1038/s41598-021-01992-yTest; http://hdl.handle.net/10902/23299Test

الإتاحة: https://doi.org/10.1038/s41598-021-01992-yTest
http://hdl.handle.net/10902/23299Test