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1. Clinical significance of the anti-Nucleolar Organizer Region 90 antibodies (NOR90) in systemic sclerosis: Analysis of the European Scleroderma Trials and Research (EUSTAR) cohort and a systematic literature review

Author: Dima, A, Vonk, MC, Garaiman, A, Kersten, BE, Becvar, R, Tomcik, M, Hoffmann-Vold, A-M, Castellvi, I, Jaime, JL Tandaipan, Brzosko, M, Milchert, M, Krasowska, D, Michalska-Jakubus, M, Airo, P, Matucci-Cerinic, M, Bruni, C, Iudici, M, Distler, JHW, Gheorghiu, AM, Poormoghim, H, Motta, F, De Santis, M, Parvu, M, Distler, O, and Mihai, C
Published: 2024
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2. Immunoglobulins in systemic sclerosis management. A large multicenter experience

Author: Tandaipan, J., Guillén-Del-Castillo, A., Simeón-Aznar, C.P., Carreira, P.E., De la Puente, C., Narváez, J., Lluch, J., Rubio-Rivas, M., Alegre-Sancho, J.J., Bonilla, G., Moriano, C., Casafont-Sole, I., García-Vicuña, R., Ortiz-Santamaría, V., Riera, E., Atienza-Mateo, B., Blanco, R., Galisteo, C., Gonzalez-Martin, J.J., Pego-Reigosa, J.M., Pros, A., Heredia, S., and Castellví, I.
Published: 2023
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3. Contributions of the lupus register of the Spanish Society of Rheumatology (RELESSER) to the knowledge of systemic lupus erythematosus in Spain

Author: López-Longo, J., Galindo-Izquierdo, M., Calvo-Alén, J., del Campo, V., Olivé-Marqués, A., Pérez-Vicente, S., Fernández-Nebro, A., Andrés, M., Erausquin, C., Tomero, E., Horcada, L., Uriarte, E., Freire, M., Montilla, C., Sánchez-Atrio, A., Santos, G., Boteanu, A., Díez-Álvarez, E., Narváez, J., Blanco-Alonso, R., Martínez-Taboada, V., Silva-Fernández, L., Ruiz-Lucea, E., Andreu, J.L., Hernández-Beriain, J.Á., Gantes, M., Hernández-Cruz, B., Pérez-Venegas, J., Rodríguez-Gómez, M., Zea, A., Fernández-Castro, M., Pecondón-Español, Á., Marras, C., Ibáñez-Barceló, M., Bonilla, G., Torrente-Segarra, V., Castellví, I., Alegre, J.J., Calvet, J., Marenco, J.L., Raya, E., Vázquez, T., Quevedo, V., Muñoz-Fernández, S., Ibáñez, J., Fernández-Berrizbeitia, O., Expósito, L., Carreira, P., Moreno, M., de la Peña, P.G., Aguirre, M.Á., Salman-Monte, T.C., Riveros Frutos, A., Tejera, B., Cobo-Ibañez, T., Sánchez-Alonso, F., Melero-González, R., Otón-Sánchez, T., García-Yebenes, M.J., Menor-Almagro, R., Mouriño, C., Fito-Manteca, C., Galisteo, C., Manero, J., Lois-Iglesias, A., Valls-Pascual, E., Manrique-Arija, S., Ucar, E., Borrell, H., Salgado, E., Rúa-Figueroa Fernández de Larrinoa, Iñigo, and Pego-Reigosa, José María
Published: 2021
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4. Aportaciones del registro de lupus de la Sociedad Española de Reumatología (RELESSER) al conocimiento del lupus eritematoso sistémico en España

Author: López-Longo, J., Galindo-Izquierdo, M., Calvo-Alén, J., del Campo, V., Olivé-Marqués, A., Pérez-Vicente, S., Fernández-Nebro, A., Andrés, M., Erausquin, C., Tomero, E., Horcada, L., Uriarte, E., Freire, M., Montilla, C., Sánchez-Atrio, A., Santos, G., Boteanu, A., Díez-Álvarez, E., Narváez, J., Blanco-Alonso, R., Martínez-Taboada, V., Silva-Fernández, L., Ruiz-Lucea, E., Andreu, J.L., Hernández-Beriain, J.Á., Gantes, M., Hernández-Cruz, B., Pérez-Venegas, J., Rodríguez-Gómez, M., Zea, A., Fernández-Castro, M., Pecondón-Español, Á., Marras, C., Ibáñez-Barceló, M., Bonilla, G., Torrente-Segarra, V., Castellví, I., Alegre, J.J., Calvet, J., Marenco, J.L., Raya, E., Vázquez, T., Quevedo, V., Muñoz-Fernández, S., Ibáñez, J., Fernández-Berrizbeitia, O., Expósito, L., Carreira, P., Moreno, M., de la Peña, P.G., Aguirre, M.Á., Salman-Monte, T.C., Riveros Frutos, A., Tejera, B., Cobo-Ibañez, T., Sánchez-Alonso, F., Melero-González, R., Otón-Sánchez, T., García-Yebenes, M.J., Menor-Almagro, R., Mouriño, C., Fito-Manteca, C., Galisteo, C., Manero, J., Lois-Iglesias, A., Valls-Pascual, E., Manrique-Arija, S., Ucar, E., Borrell, H., Salgado, E., Rúa-Figueroa Fernández de Larrinoa, Iñigo, and Pego-Reigosa, José María
Published: 2021
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5. Cohort Enrichment Strategies for Progressive Interstitial Lung Disease in Systemic Sclerosis From European Scleroderma Trials and Research

Author: Hoffmann-Vold A. -M., Brunborg C., Airo P., Ananyeva L. P., Czirjak L., Guiducci S., Hachulla E., Li M., Mihai C., Riemekasten G., Sfikakis P. P., Valentini G., Kowal-Bielecka O., Allanore Y., Distler O., Vacca A., Giollo A., Balbir-Gurman A., Gheorghiu A. M., Marcoccia A., Herrick A., Radic M., Stamenkovic B., Anic B., Granel B., Ribi C., Selmi C. F., Carlos de la Puente M., de Souza Muller C., Denton C., Kayser C., Tanaseanu C. -M., Majewski D., Rimar D., Krasowska D., Veale D., Walker U., Kerzberg E., Rezus E., Zanatta E., Siegert E., De Langhe E., Oksel F., Ingegnoli F., Cantatore F. P., Szucs G., Cuomo G., Seskute G., Litinsky V., Castellvi I., Morovic-Vergles J., Sibilia J., Henes J., Solanki K., Perdan-Pirkmajer K., Herrmann K., Saketkoo L. A., Stamp L., Mouthon L., Salvador M. J., Pozzi M. R., Uprus M., Vanthuyne M., Engelhart M., Kohm M., Iudici M., Inanc M., Fathi N., Pamuk N., Garcia de la Pena Lefebv P., Carreira P. E., Bancel D. F., Moroncini L., Montecucco C., Ancuta C., Sunderkotter C., Muller-Ladner U., Rosato E., Kucharz E. J., Iannone F., Del Galdo F., Poormoghim H., Kotter I., Distler J., Cutolo M., Tikly M., Damjanov N., Hunzelmann N., Vlachoyiannopoulos P., Hasler P., Sarzi Puttini P., Wiland P., Becvar R., Yavuz S., Zdrojewski Z., Pellerito R., Foti R., Ionescu R. M., Adler S., Kahl S., Moiseev S., Stebbings S., Rednic S., Negrini S., Heitmann S., Ullman S., Agachi S., Martin T., Schmeiser T., Riccieri V., Smith V., Bernardino V., Ortiz-Santamaria V., Hsu V. M., Abdel Atty Mohamed W. A., Hoffmann-Vold, A. -M., Brunborg, C., Airo, P., Ananyeva, L. P., Czirjak, L., Guiducci, S., Hachulla, E., Li, M., Mihai, C., Riemekasten, G., Sfikakis, P. P., Valentini, G., Kowal-Bielecka, O., Allanore, Y., Distler, O., Vacca, A., Giollo, A., Balbir-Gurman, A., Gheorghiu, A. M., Marcoccia, A., Herrick, A., Radic, M., Stamenkovic, B., Anic, B., Granel, B., Ribi, C., Selmi, C. F., Carlos de la Puente, M., de Souza Muller, C., Denton, C., Kayser, C., Tanaseanu, C. -M., Majewski, D., Rimar, D., Krasowska, D., Veale, D., Walker, U., Kerzberg, E., Rezus, E., Zanatta, E., Siegert, E., De Langhe, E., Oksel, F., Ingegnoli, F., Cantatore, F. P., Szucs, G., Cuomo, G., Seskute, G., Litinsky, V., Castellvi, I., Morovic-Vergles, J., Sibilia, J., Henes, J., Solanki, K., Perdan-Pirkmajer, K., Herrmann, K., Saketkoo, L. A., Stamp, L., Mouthon, L., Salvador, M. J., Pozzi, M. R., Uprus, M., Vanthuyne, M., Engelhart, M., Kohm, M., Iudici, M., Inanc, M., Fathi, N., Pamuk, N., Garcia de la Pena Lefebv, P., Carreira, P. E., Bancel, D. F., Moroncini, L., Montecucco, C., Ancuta, C., Sunderkotter, C., Muller-Ladner, U., Rosato, E., Kucharz, E. J., Iannone, F., Del Galdo, F., Poormoghim, H., Kotter, I., Distler, J., Cutolo, M., Tikly, M., Damjanov, N., Hunzelmann, N., Vlachoyiannopoulos, P., Hasler, P., Sarzi Puttini, P., Wiland, P., Becvar, R., Yavuz, S., Zdrojewski, Z., Pellerito, R., Foti, R., Ionescu, R. M., Adler, S., Kahl, S., Moiseev, S., Stebbings, S., Rednic, S., Negrini, S., Heitmann, S., Ullman, S., Agachi, S., Martin, T., Schmeiser, T., Riccieri, V., Smith, V., Bernardino, V., Ortiz-Santamaria, V., Hsu, V. M., and Abdel Atty Mohamed, W. A.
Subjects: interstitial lung disease, Pulmonary and Respiratory Medicine, enrichment, systemic sclerosis, clinical trial, Cardiology and Cardiovascular Medicine, Critical Care and Intensive Care Medicine
Abstract: BACKGROUND: Enrichment strategies from clinical trials for progressive systemic sclerosis-associated interstitial lung disease (SSc-ILD) have not been tested in a real-life cohort.RESEARCH QUESTION: Do enrichment strategies for progressive ILD impact efficacy, repre-sentativeness, and feasibility in patients with SSc-ILD from the European Scleroderma Trials and Research (EUSTAR) database?STUDY DESIGN AND METHODS: We applied the inclusion criteria of major recent SSc-ILD trials (Study of the Efficacy and Safety of Tocilizumab in Participants With Systemic Sclerosis [focuSSced], Scleroderma Lung Study II [SLS II], and Safety and Efficacy of Nintedanib in Systemic Sclerosis [SENSCIS]) and assessed progressive ILD, which was defined as absolute change in FVC and as significant progression (FVC decline $10%). Data were compared with all patients and with patients who did not fulfill any inclusion criteria. RESULTS: In total, 2,258 patients with SSc-ILD were included: 31.2% of the patients met SENSCIS criteria; 5.8% of the patients met SLS II criteria; 1.6% of the patients met focuSSced criteria, and 67.7% (1,529) of the patients did not meet any criteria. In the first 12 + 3 months, the absolute FVC decline in all patients and in patients who fulfilled criteria from SENSCIS was -0.1%, in patients who fulfilled criteria from focuSSced was -3.7%, and in patients who fulfilled criteria from SLS II was 2.3%, with accompanying more progressors in focuSSced. The patient populations that fulfilled the different study inclusion criteria significantly differed in various clinical parameters. In the second 12-month period, SENSCIS-enriched patients had a further absolute FVC% decline as described for the total cohort. In contrast, patients who fulfilled the focuSSced and SLS II criteria showed numeric improvement of lung function. There were no significant associations of enrichment criteria and ILD progression.INTERPRETATION: The application of enrichment criteria from previous clinical trials showed enrichment for progression with variable success, which led to selected patient populations reducing feasibility of recruitment. These findings are important for future clinical trial design and interpretation of the results of published trials.CHEST 2023; 163(3):586-598
Published: 2023

6. IL-6 blockade reverses the abnormal STAT activation of peripheral blood leukocytes from rheumatoid arthritis patients

Author: Ortiz, M.A., Diaz-Torné, C., Hernández, M.V., Reina, D., de la Fuente, D., Castellví, I., Moya, P., Ruiz, J.M., Corominas, H., Zamora, C., Cantó, E., Sanmartí, R., Juarez, C., and Vidal, S.
Published: 2015
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7. PO.7.155 Study of the comorbidities present in the patients included in the registry of systemic lupus erythematosus of the spanish society of rheumatology (relesser)

Author: Lois-Iglesias, A, primary, Iñigo, R, additional, Galindo Izquierdo, M, additional, Calvo-Alén, J, additional, Balboa-Barreiro, V, additional, Mouriño, C, additional, Olivé, A, additional, Melero, R, additional, Fernández-Nebro, A, additional, Andrés, M, additional, Erausquin, C, additional, Tomero, E, additional, Fito, C, additional, Uriarte, E, additional, Freire, M, additional, Montilla, C, additional, Morasat, A, additional, Santos-Soler, G, additional, Boteanu, A, additional, León, E, additional, Narvaez, J, additional, Taboada, V, additional, Silva, L, additional, Ibarguengoitia, O, additional, Fernandez-Castro, M, additional, Hernadez-Beirian, JA, additional, Gantes, M, additional, Hernández-Cruz, B, additional, Pérez-Venegas, J, additional, Pecondon, A, additional, Lozano, N, additional, Cacheda, AP, additional, Bonilla, G, additional, Torrente-Segarra, V, additional, Castellvi, I, additional, Alegre, JJ, additional, Calvet, J, additional, Marenco, JL, additional, Raya, E, additional, Vázquez, T, additional, Víctor, Q, additional, Muñoz, S, additional, Otón, T, additional, Martínez Barrio, J, additional, and Pego-Reigosa, JM, additional
Published: 2022
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8. ACE inhibitors in SSc patients display a risk factor for scleroderma renal crisis—a EUSTAR analysis

Author: Bütikofer L, Varisco PA, Distler O, Kowal-Bielecka O, Allanore Y, Riemekasten G, Villiger PM, Adler S, Avouac J, Walker UA, Guiducci S, Airò P, Hachulla E, Valentini G, Carreira PE, Cozzi F, Gurman AB, Braun-Moscovici Y, Damjanov N, Ananieva LP, Scorza R, Jimenez S, Busquets J, Li M, Müller-Ladner U, Maurer B, Tyndall A, Lapadula G, Iannone F, Becvar R, Sierakowsky S, Bielecka OK, Cutolo M, Sulli A, Cuomo G, Vettori S, Rednic S, Nicoara I, Vlachoyiannopoulos P, Montecucco C, Caporali R, Novak S, Czirják L, Varju C, Chizzolini C, Kucharz EJ, Kotulska A, Kopec-Medrek M, Widuchowska M, Rozman B, Mallia C, Coleiro B, Gabrielli A, Farge D, Hij A, Hesselstrand R, Scheja A, Wollheim F, Martinovic D, Govoni M, Monaco AL, Hunzelmann N, Pellerito R, Bambara LM, Caramaschi P, Black C, Denton C, Henes J, Santamaria VO, Heitmann S, Krasowska D, Seidel M, Oleszowsky M, Burkhardt H, Himsel A, Salvador MJ, Stamenkovic B, Stankovic A, Tikly M, Starovoytova MN, Engelhart M, Strauss G, Nielsen H, Damgaard K, Szücs G, Mendoza AZ, de la Puente Buijdos C, Sifuentes Giraldo WA, Midtvedt Ø, Garen T, Launay D, Valesini G, Riccieri V, Ionescu RM, Opris D, Groseanu L, Wigley FM, Mihai CM, Cornateanu RS, Ionitescu R, Gherghe AM, Gorga M, Dobrota R, Bojinca M, Schett G, Distler JHW, Meroni P, Zeni S, Mouthon L, De Keyser F, Smith V, Cantatore FP, Corrado A, Ullman S, Iversen L, Pozzi MR, Eyerich K, Hein R, Knott E, Szechinski J, Wiland P, Szmyrka-Kaczmarek M, Sokolik R, Morgiel E, Krummel-Lorenz B, Saar P, Aringer M, Günther C, Anic B, Baresic M, Mayer M, Radominski SC, de Souza Müller C, Azevedo VF, Agachi S, Groppa L, Chiaburu L, Russu E, Zenone T, Stebbings S, Highton J, Stamp L, Chapman P, Baron M, O'Donnell J, Solanki K, Doube A, Veale D, O'Rourke M, Loyo E, Rosato E, Pisarri S, Tanaseanu CM, Popescu M, Dumitrascu A, Tiglea I, Chirieac R, Ancuta C, Furst DE, Kafaja S, de la Peña Lefebvre PG, Rubio SR, Exposito MV, Sibilia J, Chatelus E, Gottenberg JE, Chifflot H, Litinsky I, Venalis A, Butrimiene I, Venalis P, Rugiene R, Karpec D, Kerzberg E, Montoya F, Cosentino V, Castellvi I., Publica, Bütikofer, L, Varisco, Pa, Distler, O, Kowal-Bielecka, O, Allanore, Y, Riemekasten, G, Villiger, Pm, Adler, S, Avouac, J, Walker, Ua, Guiducci, S, Airò, P, Hachulla, E, Valentini, G, Carreira, Pe, Cozzi, F, Gurman, Ab, Braun-Moscovici, Y, Damjanov, N, Ananieva, Lp, Scorza, R, Jimenez, S, Busquets, J, Li, M, Müller-Ladner, U, Maurer, B, Tyndall, A, Lapadula, G, Iannone, F, Becvar, R, Sierakowsky, S, Bielecka, Ok, Cutolo, M, Sulli, A, Cuomo, G, Vettori, S, Rednic, S, Nicoara, I, Vlachoyiannopoulos, P, Montecucco, C, Caporali, R, Novak, S, Czirják, L, Varju, C, Chizzolini, C, Kucharz, Ej, Kotulska, A, Kopec-Medrek, M, Widuchowska, M, Rozman, B, Mallia, C, Coleiro, B, Gabrielli, A, Farge, D, Hij, A, Hesselstrand, R, Scheja, A, Wollheim, F, Martinovic, D, Govoni, M, Monaco, Al, Hunzelmann, N, Pellerito, R, Bambara, Lm, Caramaschi, P, Black, C, Denton, C, Henes, J, Santamaria, Vo, Heitmann, S, Krasowska, D, Seidel, M, Oleszowsky, M, Burkhardt, H, Himsel, A, Salvador, Mj, Stamenkovic, B, Stankovic, A, Tikly, M, Starovoytova, Mn, Engelhart, M, Strauss, G, Nielsen, H, Damgaard, K, Szücs, G, Mendoza, Az, de la Puente Buijdos, C, Sifuentes Giraldo, Wa, Midtvedt, Ø, Garen, T, Launay, D, Valesini, G, Riccieri, V, Ionescu, Rm, Opris, D, Groseanu, L, Wigley, Fm, Mihai, Cm, Cornateanu, R, Ionitescu, R, Gherghe, Am, Gorga, M, Dobrota, R, Bojinca, M, Schett, G, Distler, Jhw, Meroni, P, Zeni, S, Mouthon, L, De Keyser, F, Smith, V, Cantatore, Fp, Corrado, A, Ullman, S, Iversen, L, Pozzi, Mr, Eyerich, K, Hein, R, Knott, E, Szechinski, J, Wiland, P, Szmyrka-Kaczmarek, M, Sokolik, R, Morgiel, E, Krummel-Lorenz, B, Saar, P, Aringer, M, Günther, C, Anic, B, Baresic, M, Mayer, M, Radominski, Sc, de Souza Müller, C, Azevedo, Vf, Agachi, S, Groppa, L, Chiaburu, L, Russu, E, Zenone, T, Stebbings, S, Highton, J, Stamp, L, Chapman, P, Baron, M, O'Donnell, J, Solanki, K, Doube, A, Veale, D, O'Rourke, M, Loyo, E, Rosato, E, Pisarri, S, Tanaseanu, Cm, Popescu, M, Dumitrascu, A, Tiglea, I, Chirieac, R, Ancuta, C, Furst, De, Kafaja, S, de la Peña Lefebvre, Pg, Rubio, Sr, Exposito, Mv, Sibilia, J, Chatelus, E, Gottenberg, Je, Chifflot, H, Litinsky, I, Venalis, A, Butrimiene, I, Venalis, P, Rugiene, R, Karpec, D, Kerzberg, E, Montoya, F, Cosentino, V, and Castellvi, I.
Subjects: INVOLVEMENT, Male, Hypertension, Renal, ACE inhibitors, lcsh:Diseases of the musculoskeletal system, Scleroderma Renal Crisis, MULTICENTER, Angiotensin-Converting Enzyme Inhibitors, Scleroderma, Scleroderma renal crisis, 0302 clinical medicine, Risk Factors, Medicine and Health Sciences, Medicine, 030212 general & internal medicine, Prospective Studies, 610 Medicine & health, Renal, Antihypertensive drugs, Outcome, antihypertensive drugs, arterial hypertension, outcome, scleroderma renal crisis, Incidence (epidemiology), Incidence, Hazard ratio, Acute Kidney Injury, Middle Aged, Europe, Treatment Outcome, Population Surveillance, Cohort, Hypertension, Female, 360 Social problems & social services, Proto-oncogene tyrosine-protein kinase Src, Research Article, Arterial hypertension, medicine.medical_specialty, 03 medical and health sciences, ENDOTHELIN-1, Internal medicine, Humans, Risk factor, Aged, 030203 arthritis & rheumatology, Scleroderma, Systemic, business.industry, SYSTEMIC-SCLEROSIS, Systemic, medicine.disease, Concomitant, lcsh:RC925-935, business
Abstract: Objectives To investigate the effect of ACE inhibitors (ACEi) on the incidence of scleroderma renal crisis (SRC) when given prior to SRC in the prospectively collected cohort from the European Scleroderma Trial and Research Group (EUSTAR). Methods SSc patients without prior SRC and at least one follow-up visit were included and analyzed regarding SRC, arterial hypertension, and medication focusing on antihypertensive medication and glucocorticoids (GC). Results Out of 14,524 patients in the database, we identified 7648 patients with at least one follow-up. In 27,450 person-years (py), 102 patients developed SRC representing an incidence of 3.72 (3.06–4.51) per 1000 py. In a multivariable time-to-event analysis adjusted for age, sex, disease severity, and onset, 88 of 6521 patients developed SRC. The use of ACEi displayed an increased risk for the development of SRC with a hazard ratio (HR) of 2.55 (95% confidence interval (CI) 1.65–3.95). Adjusting for arterial hypertension resulted in a HR of 2.04 (95%CI 1.29–3.24). There was no evidence for an interaction of ACEi and arterial hypertension (HR 0.83, 95%CI 0.32–2.13, p = 0.69). Calcium channel blockers (CCB), angiotensin receptor blockers (ARB), endothelin receptor antagonists, and GC—mostly in daily dosages below 15 mg of prednisolone—did not influence the hazard for SRC. Conclusions ACEi in SSc patients with concomitant arterial hypertension display an independent risk factor for the development of SRC but are still first choice in SRC treatment. ARBs might be a safe alternative, yet the overall safety of alternative antihypertensive drugs in SSc patients needs to be further studied.
Published: 2020

9. Management of progressive pulmonary fibrosis associated with connective tissue disease

Author: Molina-Molina, M, Castellvi, I, Valenzuela, C, Ramirez, J, Portal, JAR, Franquet, T, and Narvaez, J
Subjects: progressive pulmonary fibrosis, treatment, connective tissue disease, diagnosis, Interstitial lung disease, multidisciplinary consultation
Abstract: Introduction Fibrotic interstitial lung disease (ILD) is a frequent and severe complication of connective tissue disease (CTD). Areas covered In this narrative review, we update the most relevant differential characteristics of fibrotic ILD associated with CTD (CTD-ILD) and propose a diagnostic and therapeutic approach based on a review of the articles published between 2002 and 2022 through PubMed. Expert opinion The subset of ILD, mainly the radiological/histological pattern and the degree of fibrotic component, usually determines the prognosis and therapeutic strategy for these patients. Some patients with CTD-ILD can develop progressive pulmonary fibrosis (PPF) with severe deterioration of lung function, rapid progression to chronic respiratory failure, and high mortality. PPF has been described in many CTDs, mainly in systemic sclerosis and rheumatoid arthritis, and requires a multidisciplinary diagnostic and therapeutic approach to improve patient outcomes.
Published: 2022

10. Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis.

Author: Kerick, Martin, Acosta-Herrera, Marialbert, Simeón-Aznar, Carmen Pilar, Callejas, José Luis, Assassi, Shervin, International SSc Group, Carreira, P., Castellvi, I., Ríos, R., Portales, R. García, Fernández-Nebro, A., García-Hernández, F. J., Aguirre, M. A., Fernández-Gutiérrez, B., Rodríguez-Rodríguez, L., de la Peña, P. García, Vicente, E., Andreu, J. L., de Castro, M. Fernández, and López-Longo, F. J.
Published: 2022
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11. Digestive involvement in primary Sjögren's syndrome: Analysis from the Sjögrenser registry

Author: Díaz S.M., Sánchez-Piedra C., Fernández Castro M., Andreu J.L., Martínez Taboada V., Olivé A., Rosas J., Menor R., García-Aparicio Á., López Longo F.J., Manrique-Arija S., García Vadillo J.A., López-González R., Narváez J., Galisteo C., González Martín J., Naranjo A., Illera Ó., Moreira B., Raya E., Rodríguez López M., Júdez E., Moriano C., Torrente-Segarra V., García Magallón B., Guillén Astete C., Castellvi I., Bohórquez C., Loricera J., Belzunegui J., Carreira P.E., Sjogrenser group, and Spanish Society of Rheumatology Systemic Autoimmune Diseases Study Group (EASSER
Subjects: Male, demography, hypocomplementemia, retrospective study, groups by age, prevalence, disease classification, lymphoma, Article, histology, Cohort Studies, atrophic gastritis, middle aged, Humans, human, Raynaud phenomenon, Registries, Retrospective Studies, register, autoimmune hepatitis, adult, disease association, immunosuppressive agent, cohort analysis, esophagus function disorder, major clinical study, primary biliary cirrhosis, lymphocytic colitis, Hepatitis, Autoimmune, female, Sjogren's Syndrome, priority journal, glucocorticoid, hypothyroidism, biological product, Sjoegren syndrome
Abstract: Objective. Digestive involvement (DI) has been reported in 10-30% of primary Sjögren's syndrome (pSS) patients, and few studies have systematically analysed the prevalence of DI in pSS patients. The aim of this study was to describe DI prevalence in pSS patients from the Sjögrenser Study, and to analyse its clinical associations. Methods. All patients included in the Sjögrenser study, a Spanish multicentre randomised cohort, containing demographic, clinical and histologic data, have been analysed retrospectively. Patients were classified according to the presence of DI (oesophageal, gastric, intestinal, hepatic and pancreatic), and we have performed DI clinical associations, descriptive statistics, Student t or ?2 test, and uni and multivariate logistic regression. Results. From 437 included patients, 95% were women, with a median age of 58 years, 71 (16.2%) presented DI: 21 (29.5%) chronic atrophic gastritis, 12 (16.9%) oesophageal motility dysfunction, 3 (4.2%) lymphocytic colitis, 18 (25.3%) primary biliary cholangitis, 15 (21.1%) autoimmune hepatitis, 7 (9.8%) pancreatic involvement and 5 (7%) coeliac disease. Half of them developed DI at the same time or after pSS diagnosis. Patients with DI were significantly older at pSS diagnosis (p=0.032), more frequently women (p=0.009), presented more autoimmune hypothyroidism and C3 hypocomplementaemia (p=0.040), and were treated more frequently with glucocorticoids, immunosuppressant and biologic therapies. Patients with pancreatic involvement presented more central nervous system and renal involvement, Raynaud's phenomenon, lymphoma and C3/C4 hypocomplementaemia. Conclusion. DI is frequent in Sjögrenser patients, mainly in the form of autoimmune disorders, and seem to be associated with a more severe phenotype. Our results suggest that DI should be evaluated in pSS patients, especially those with more severe disease. © 2020 Clinical and Experimental Rheumatology.
Published: 2021

12. EFFECTIVENESS AND SAFETY OF TOCILIZUMAB IN PATIENTS WITH SYSTEMIC SCLEROSIS: A PROPENSITY SCORE CONTROL MATCHED OBSERVATIONAL STUDY OF THE EUSTAR COHORT

Author: Kuster S, Jordan S, Elhai M, Held U, Steigmiller K, Bruni C, Iannone F, Vettori S, Siegert E, Rednic S, Codullo V, Airo P, Braun-Moscovici Y, Hunzelmann N, Salvador M, Riccieri V, Gheorghiu A, Sancho J, Romanowska-Prochnicka K, Castellvi I, Koetter I, Truchetet M, Lopez-Longo F, Novikov P, Giollo A, Shirai Y, Belloli L, Zanatta E, Hachulla E, Smith V, Denton C, Ionescu R, Schmeiser T, Distler J, Gabrielli A, Hoffmann-Vold A, Kuwana M, Allanore Y, Distler O, and EUSTAR
Published: 2021

13. EARLY HOSPITAL READMISSION INCREASES SHORT AND LONG - TERM MORTALITY IN PATIENTS WITH INTERSTITIAL LUNG DISEASE

Author: Castillo, D, Barril, S, Rodrigo-Troyano, A, Millan-Billi, P, Suarez-Cuartin, G, Alonso, A, Franquet, T, Lopez-Vilaro, L, Castellvi, I, Plaza, V, and Sibila, O
Subjects: Hospitalization, Interstitial lung disease, Mortality, Readmission
Abstract: Objective: To investigate the prognostic impact of early readmission (30 days) on hospitalized patients with Interstitial Lung Disease (ILD). Methods: Observational study analysing a cohort of patients hospitalized in a respiratory ward at a University Hospital. Demographic, clinical data and survival status were collected from patients' records. Early readmission was defined as hospitalization within 30 days after patient's discharge. The primary outcome was 90-day and 1-year all-cause mortality.Results: Between 2013 to 2016, a total of 2.238 patients were admitted to the respiratory ward and 98 (%) had a diagnosis of ILD. Among them, 74 patients were discharged (25% in-hospital mortality). Early readmission was observed in 15 cases (20.2%). Early readmitted patients were more frequently current smokers (20% vs. 2%, p=0.02). After a multivariate analysis, early readmission was found to be independently associated with 90-day and 1 year mortality (Odds Ratio (OR) 17.6, 95% Confidence Interval (CI) 4.5-69-2, p=0.001 and OR 4.5; 95CI 1.3-15.2, p=0.01, respectively).Conclusion: In patients with ILD, early readmission after hospitalization increases both short-term and long term mortality. Thus, preventing early readmission after discharge from hospital admission may have an impact in the clinical course of ILD patients. Further studies are required to identify factors contributing to early readmission.
Published: 2021

14. Effect of Nintedanib on Lung Function in Patients With Systemic Sclerosis-Associated Interstitial Lung Disease: Further Analyses of a Randomized, Double-Blind, Placebo-Controlled Trial

Author: Maher, TM, Mayes, MD, Kreuter, M, Volkmann, ER, Aringer, M, Castellvi, I, Cutolo, M, Stock, C, Schoof, N, Alves, M, Raghu, G, and SENSCIS Trial Investigators
Subjects: respiratory system, circulatory and respiratory physiology, respiratory tract diseases
Abstract: Objective In the SENSCIS trial in subjects with systemic sclerosis-associated interstitial lung disease (SSc-ILD), nintedanib reduced the rate of decline in forced vital capacity (FVC) over 52 weeks by 44% versus placebo. This study was undertaken to investigate the effects of nintedanib on categorical changes in FVC and other measures of ILD progression. Methods In post hoc analyses, we assessed the proportions of subjects with categorical changes in FVC % predicted at week 52 and the time to absolute decline in FVC of >= 5% predicted or death and absolute decline in FVC of >= 10% predicted or death. Results A total of 288 subjects received nintedanib and 288 subjects received placebo. At week 52, in subjects treated with nintedanib and placebo, respectively, 55.7% and 66.3% had any decline in FVC % predicted, 13.6% and 20.1% had a decline in FVC of >5% to 10% to = 3.3% predicted (proposed minimal clinically important difference [MCID] for worsening of FVC), while 23.0% and 14.9% had an increase in FVC of >= 3.0% predicted (proposed MCID for improvement in FVC). Over 52 weeks, the hazard ratio (HR) for an absolute decline in FVC of >= 5% predicted or death with nintedanib versus placebo was 0.83 (95% confidence interval [95% CI] 0.66-1.06) (P = 0.14), and the HR for an absolute decline in FVC of >= 10% predicted was 0.64 (95% CI 0.43-0.95) (P = 0.029). Conclusion These results suggest that nintedanib has a clinically relevant benefit on the progression of SSc-ILD.
Published: 2021

15. Nintedanib dose adjustments and adverse events in patients with progressive autoimmune disease-related interstitial lung diseases in the inbuild trial

Author: Volkmann, E., Castellvi, I., Johnson, S., Matteson, E., Distler, J., Seibold, J., Costabel, Ulrich, James, A., Coeck, C., Quaresma, M., and Cottin, V.
Subjects: Medizin
Published: 2020

16. A comparative study on clinical and serological characteristics between patients with rhupus and those with systemic lupus erythematosus and rheumatoid arthritis

Author: Frade-Sosa, B, Narvaez, J, Salman-Monte, TC, Castellanos-Moreira, R, Ortiz-Santamaria, V, Torrente-Segarra, V, Castellvi, I, Magallares, B, Reina, D, Minguez, S, Salles, M, de Lara, MGM, Ordonez, S, Riera, E, Schur, PH, Gomez-Puerta, JA, and CAPICAT-MAS Study Grp
Subjects: rheumatoid arthritis, systemic lupus erythematosus, immune system diseases, Arthritis, rhupus, skin and connective tissue diseases, poly-autoimmunity
Abstract: Background The concomitant presence of two autoimmune diseases - systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) - in the same patient is known as rhupus. We evaluated a group of patients with rhupus to clarify further their clinical, serological and immunogenic features in a multi-centre cohort. In addition, the study aimed to explore the utility of the 2019 European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) SLE classification criteria in our group of patients with rhupus. Methods This was a cross-sectional study. We included rhupus patients from 11 different rheumatology departments, and compared them to SLE and RA patients at a ratio of 2:1. All information was recorded following a pre-established protocol. Results A total of 200 patients were included: 40 rhupus patients and 80 each of SLE and RA patients as controls. Disease duration was similar among SLE and rhupus groups (around 13 years), but the RA group had a significantly lower disease duration. Main clinical manifestations were articular (94.2%), cutaneous (77.5%) and haematological (72.5%). Rhupus patients had articular manifestations similar to those expected in RA. Only 10% of rhupus patients had renal involvement compared with 25% of those with SLE (p < 0.05), while interstitial lung disease was more common in patients affected by RA. The 2019 EULAR/ACR SLE criteria were met in 92.5% of the rhupus patients and in 96.3% of the SLE cohort (p > 0.05). Excluding the joint domain, there were no differences between the numbers of patients who met the classification criteria. Conclusion Rhupus patients follow a particular clinical course, with full expression of both SLE and RA in terms of organ involvement, except for a lower prevalence of kidney affection. The new 2019 EULAR/ACR SLE criteria are not useful for differentiating SLE and rhupus patients. A new way of classifying autoimmune diseases is needed to identify overlapping clusters.
Published: 2020

17. Digestive involvement in primary Sjogren's syndrome: analysis from the Sjogrenser registry

Author: Melchor S, Sanchez-Piedra C, Castro M, Andreu J, Taboada V, Olive A, Rosas J, Menor R, Garcia-Aparicio A, Longo F, Manrique-Arija S, Vadillo J, Lopez-Gonzalez R, Narvaez J, Galisteo C, Martin J, Naranjo A, Illera O, Moreira B, Raya E, Lopez M, Judez E, Moriano C, Torrente-Segarra V, Magallon B, Astete C, Castellvi I, Bohorquez C, Loricera J, Belzunegui J, Carreira P, and Spanish Soc Rheumatology Systemic
Subjects: autoimmune hepatitis, primary biliary cholangitis, digestive involvement, primary Sjogren's syndrome, chronic atrophic gastritis
Abstract: Objective. Digestive involvement (DI) has been reported in 10-30% of primary Sjogren's syndrome (pSS) patients, and few studies have systematically analysed the prevalence of DI in pSS patients. The aim of this study was to describe DI prevalence in pSS patients from the Sjogrenser Study, and to analyse its clinical associations. Methods. All patients included in the Sjogrenser study, a Spanish multicentre randomised cohort, containing demographic, clinical and histologic data, have been analysed retrospectively. Patients were classified according to the presence of DI (oesophageal, gastric, intestinal, hepatic and pancreatic), and we have performed DI clinical associations, descriptive statistics, Student t or chi(2) test, and uni and multivariate logistic regression. Results. From 437 included patients, 95% were women, with a median age of 58 years, 71 (16.2%) presented DI: 21 (29.5%) chronic atrophic gastritis, 12 (16.9%) oesophageal motility dysfunction, 3 (4.2%) lymphocytic colitis, 18 (25.3%) primary biliary cholangitis, 15 (21.1%) autoimmune hepatitis, 7 (9.8%) pancreatic involvement and 5 (7%) coeliac disease. Half of them developed DI at the same time or after pSS diagnosis. Patients with DI were significantly older at pSS diagnosis (p=0.032), more frequently women (p=0.009), presented more autoimmune hypothyroidism and C3 hypocomplementaemia (p=0.040), and were treated more frequently with glucocorticoids, immunosuppressant and biologic therapies. Patients with pancreatic involvement presented more central nervous system and renal involvement, Raynaud's phenomenon, lymphoma and C3/C4 hypocomplementaemia. Conclusion. DI is frequent in Sjogrenser patients, mainly in the form of autoimmune disorders, and seem to be associated with a more severe phenotype. Our results suggest that DI should be evaluated in pSS patients, especially those with more severe disease.
Published: 2020

18. Differences in clinical manifestations and increased severity of systemic lupus erythematosus between two groups of Hispanics: European Caucasians versus Latin American mestizos (data from the RELESSER registry)

Author: Cruz, B, Alonso, F, Alen, J, Pego-Reigosa, J, Lopez-Longo, F, Galindo-Izquierdo, M, Olive, A, Tomero, E, Horcada, L, Uriarte, E, Erausquin, C, Sanchez-Atrio, A, Montilla, C, Soler, G, Fernandez-Nebro, A, Blanco, R, Rodriguez-Gomez, M, Vela C, Freire, M, Diez-Alvarez, E, Boteanu, A, Narvaez, J, Taboada, V, Ruiz-Lucea, E, Andreu, J, Fernandez-Berrizbeitia, O, Hernandez-Beriain, J, Gantes, M, Perez-Venegas, J, Ibanez-Barcelo, M, Pecondon-Espanol, A, Marras, C, Bonilla, G, Castellvi, I, Moreno, M, Raya, E, Vila, V, Vazquez, T, Ruan, J, Munoz, S, Rua-Figueroa, I, and RELESSER Spanish Soc Rheumatology
Subjects: Male, severity index, medicine.medical_specialty, Latin Americans, Hispanics, Ethnic group, Severity of Illness Index, White People, 03 medical and health sciences, 0302 clinical medicine, Systemic lupus erythematosus, Rheumatology, immune system diseases, medicine, Humans, Lupus Erythematosus, Systemic, Registries, 030212 general & internal medicine, Retrospective Studies, 030203 arthritis & rheumatology, Autoimmune disease, Lupus erythematosus, business.industry, medicine.disease, Dermatology, Latin America, Spain, Disease Progression, ethnicity, Female, business
Abstract: Background Systemic lupus erythematosus (SLE) is regarded as a prototype autoimmune disease because it can serve as a means for studying differences between ethnic minorities and sex. Traditionally, all Hispanics have been bracketed within the same ethnic group, but there are differences between Hispanics from Spain and those from Latin America, not to mention other Spanish-speaking populations. Objectives This study aimed to determine the demographic and clinical characteristics, severity, activity, damage, mortality and co-morbidity of SLE in Hispanics belonging to the two ethnic groups resident in Spain, and to identify any differences. Methods This was an observational, multi-centre, retrospective study. The demographic and clinical variables of patients with SLE from 45 rheumatology units were collected. The study was conducted in accordance with Good Clinical Practice guidelines. Hispanic patients from the registry were divided into two groups: Spaniards or European Caucasians (EC) and Latin American mestizos (LAM). Comparative univariate and multivariate statistical analyses were carried out. Results A total of 3490 SLE patients were included, 90% of whom were female; 3305 (92%) EC and 185 (5%) LAM. LAM patients experienced their first lupus symptoms four years earlier than EC patients and were diagnosed and included in the registry younger, and their SLE was of a shorter duration. The time in months from the first SLE symptoms to diagnosis was longer in EC patients, as were the follow-up periods. LAM patients exhibited higher prevalence rates of myositis, haemolytic anaemia and nephritis, but there were no differences in histological type or serositis. Anti-Sm, anti-Ro and anti-RNP antibodies were more frequently found in LAM patients. LAM patients also had higher levels of disease activity, severity and hospital admissions. However, there were no differences in damage index, mortality or co-morbidity index. In the multivariate analysis, after adjusting for confounders, in several models the odds ratio (95% confidence interval) for a Katz severity index >3 in LAM patients was 1.45 (1.038–2.026; p = 0.02). This difference did not extend to activity levels (i.e. SLEDAI >3; 0.98 (0.30–1.66)). Conclusion SLE in Hispanic EC patients showed clinical differences compared to Hispanic LAM patients. The latter more frequently suffered nephritis and higher severity indices. This study shows that where lupus is concerned, not all Hispanics are equal.
Published: 2020

19. APREMILAST IN MONOTHERAPY OR COMBINED IN NON-ULCER MANIFESTATIONS OF BEHCET'S DISEASE. NATIONAL MULTICENTER STUDY OF 34 REFRACTORY CASES OF CLINICAL PRACTICE

Author: Morant, A, Mateo, B, Loricera, J, del Rio, V, Martin-Varillas, J, Espinosa, G, Grana, J, Moriano, C, Sandoval, T, Martinez, M, Diez, E, Garcia-Armario, M, Martinez, E, Castellvi, I, Alvarado, P, Sivera, F, Calvo, J, De la Morena, I, Sanjuan, F, Ivorra, J, Gomez, A, Olive, A, Diez, C, Alegre, J, Ybanez-Garcia, D, Martinez-Ferrer, A, Narvaez, J, Figueras, I, Turrion, A, Romero-Yuste, S, Trenor, P, Ojeda, S, Gonzalez-Gay, M, and Blanco, R
Published: 2020

20. FACTORS AFFECTING MORTALITY OF SYSTEMIC LUPUS ERYTHEMATOSUS PATIENTS IN SPAIN IN THE 21ST CENTURY: DATA FROM THE RELESSER REGISTRY

Author: Moriano C, Calvo-Alen J, Rua-Figueroa I, Alvarez E, Bermudez C, Lopez-Longo F, Galindo-Izquierdo M, Olive-Marques A, Muriel E, Fernandez-Nebro A, Freire-Gonzalez M, Fernandez-Berrizbeitia O, Gomez A, Uriarte M, Fernandez-Cid C, Morales C, Soler G, Blanco R, Rodriguez-Gomez M, Vela P, Boteanu A, Narvaez F, Taboada V, Cruz B, Sanchez J, Hernandez-Beriain J, Exposito L, Almagro R, Ibanez-Barcelo M, Castellvi I, Galisteo C, Raya E, Quevedo-Vila V, Vazquez T, Ibanez-Ruan J, and Pego-Reigosa J
Published: 2020

21. Pulmonary Thrombosis or Embolism in a Large Cohort of Hospitalized Patients With Covid-19

Author: Benito N., Filella D., Mateo J., Fortuna A.M., Gutierrez-Alliende J.E., Hernandez N., Gimenez A.M., Pomar V., Castellvi I., Corominas H., Casademont J., and Domingo P.
Subjects: drug megadose, optiray ultraject, thrombosis prevention, multidetector computed tomography, university hospital, intensive care unit, Article, deep vein thrombosis, tocilizumab, coronavirus disease 2019, length of stay, lung angiography, male, invasive ventilation, bemiparin, middle aged, human, computed tomographic angiography, hospital mortality, C reactive protein, tinzaparin, anticoagulant therapy, adult, single drug dose, enoxaparin, cohort analysis, major clinical study, clinical feature, hospital admission, hospital patient, arterial oxygen tension, female, Spain, D dimer, incidence, ioversol, lung embolism, prospective study
Abstract: Objective: We set out to analyze the incidence and predictive factors of pulmonary embolism (PE) in hospitalized patients with Covid-19. Methods: We prospectively collected data from all consecutive patients with laboratory-confirmed Covid-19 admitted to the Hospital de la Santa Creu i Sant Pau, a university hospital in Barcelona, between March 9 and April 15, 2020. Patients with suspected PE, according to standardized guidelines, underwent CT pulmonary angiography (CTPA). Results: A total of 1,275 patients with Covid-19 were admitted to hospital. CTPA was performed on 76 inpatients, and a diagnosis of PE was made in 32 (2.6% [95%CI 1.7–3.5%]). Patients with PE were older, and they exhibited lower PaO2:FiO2 ratios and higher levels of D-dimer and C-reactive protein (CRP). They more often required admission to ICU and mechanical ventilation, and they often had longer hospital stays, although in-hospital mortality was no greater than in patients without PE. High CRP and D-dimer levels at admission (=150 mg/L and =1,000 ng/ml, respectively) and a peak D-dimer =6,000 ng/ml during hospital stay were independent factors associated with PE. Prophylactic low molecular weight heparin did not appear to prevent PE. Increased CRP levels correlated with increased D-dimer levels and both correlated with a lower PaO2:FiO2. Conclusions: The 2.6% incidence of PE in Covid-19 hospitalized patients is clearly high. Higher doses of thromboprophylaxis may be required to prevent PE, particularly in patients at increased risk, such as those with high levels of CRP and D-dimer at admission. These findings should be validated in future studies. © Copyright © 2020 Benito, Filella, Mateo, Fortuna, Gutierrez-Alliende, Hernandez, Gimenez, Pomar, Castellvi, Corominas, Casademont and Domingo.
Published: 2020

22. GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

Author: López-Isac, E., Acosta-Herrera, M., Kerick, M., Assassi, S., Satpathy, A.T., Granja, J., Mumbach, M.R., Beretta, L., Simeón, C.P., Carreira, P., Ortego-Centeno, N., Castellvi, I., Bossini-Castillo, L., Carmona, F.D., Orozco, G., Hunzelmann, N., Distler, J.H.W., Franke, A., Lunardi, C., Moroncini, G., Gabrielli, A., de Vries-Bouwstra, J., Wijmenga, C., Koeleman, B.P.C., Nordin, A., Padyukov, L., Hoffmann-Vold, A.-M., Lie, B., Ríos, R., Callejas, J.L., Vargas-Hitos, J.A., García-Portales, R., Camps, M.T., Fernández-Nebro, A., González-Escribano, M.F., García-Hernández, F.J., Castillo, M.J., Aguirre, M.A., Gómez-Gracia, I., Fernández-Gutiérrez, B., Rodríguez-Rodríguez, L., García de la Peña, P., Vicente, E., Andreu, J.L., Fernández de Castro, M., López-Longo, F.J., Martínez, L., Fonollosa, V., Guillén, A., Espinosa, G., Tolosa, C., Pros, A., Rodríguez-Carballeira, M., Narváez, F.J., Rubio-Rivas, M., Ortiz-Santamaría, V, Madroñero, A.B., González-Gay, M.A., Díaz, B., Trapiella, L., Sousa, A., Egurbide, M.V., Fanlo-Mateo, P., Sáez-Comet, L., Díaz, F., Hernández, V, Beltrán, E., Román-Ivorra, J.A., Grau E., Alegre-Sancho, J.J., Freire, M., Blanco-García, F.J., Oreiro, N., Witte, T., Kreuter, A., Riemekasten, G., Airó P., Magro, C., Voskuyl, A.E., Vonk, M.C., Hesselstrand, R., Proudman S., Stevens, W., Nikpour, M., Zochling, J., Sahhar, J., Roddy, J., Nash, P., Tymms, K., Rischmueller, M., Lester, S., Vyse, T., Herrick, A.L., Worthington, J., Denton C.P., Allanore, Y., Brown, M.A., Radstake, T.R.D.J., Fonseca, C., Chang H.Y., Mayes, M.D., Martin, J., European Scleroderma Group, Australian Scleroderma Interest Group (ASIG), Universidad de Salamanca, Ministerio de Economía y Competitividad (España), Junta de Andalucía, Ministerio de Educación, Cultura y Deporte (España), Instituto de Salud Carlos III, Howard Hughes Medical Institute, Federal Ministry of Education and Research (Germany), Universidad de Cantabria, [López-Isac E, Acosta-Herrera M, Kerick M] Institute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC, Granada, Spain. [Assassi S] The University of Texas Health Science Center-Houston, Houston, USA. [Satpathy AT, Granja J] Center for Personal Dynamic Regulomes, Stanford University School of Medicine, Stanford, USA. Howard Hughes Medical Institute, Stanford University, Stanford, USA. [Simeón CP] Servei de Medicina Interna, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Rheumatology, and AII - Inflammatory diseases
Subjects: 0301 basic medicine, Chemistry(all), AUTOIMMUNITY, Àcids nucleics, General Physics and Astronomy, Genome-wide association study, Disease, VARIANTS, Biochemistry, ANNOTATION, 0302 clinical medicine, Phosphopantothenoylcysteine decarboxylase, Single nucleotide, Non-U.S. Gov't, lcsh:Science, skin and connective tissue diseases, características del estudio::metaanálisis [CARACTERÍSTICAS DE PUBLICACIONES], Multidisciplinary, Nucleid acid conformation, integumentary system, Research Support, Non-U.S. Gov't, High-Throughput Nucleotide Sequencing, Genètica - Tècnica, 3. Good health, Nucleic acids, Sequence analysis DNA, Medical genetics, medicine.medical_specialty, Chromatin Immunoprecipitation, GENES, Investigative Techniques::Epidemiologic Methods::Epidemiologic Research Design::Genome-Wide Association Study [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Science, Non-P.H.S, Single-nucleotide polymorphism, Scleroderma systemic, Computational biology, Physics and Astronomy(all), Biology, Research Support, Study Characteristics::Meta-Analysis [PUBLICATION CHARACTERISTICS], Genetic polymorphisms, enfermedades de la piel y tejido conjuntivo::enfermedades del tejido conjuntivo::esclerodermia sistémica [ENFERMEDADES], Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Functional genomics, Genome-wide association studies, Systemic sclerosis, Rheumatic diseases, CLASSIFICATION, N.I.H, 03 medical and health sciences, Research Support, N.I.H., Extramural, Diacylglycerol kinase theta, Molecular genetics, REVEALS, Journal Article, medicine, Humans, Vascular Diseases, Risk factor, Polymorphism, Genomes, GENOME-WIDE ASSOCIATION, METAANALYSIS, 030203 arthritis & rheumatology, Scleroderma, Systemic, Biochemistry, Genetics and Molecular Biology(all), Polimorfisme genètic, HUMAN-CELLS, Extramural, Bayes Theorem, General Chemistry, Sequence Analysis, DNA, Fibrosis, 030104 developmental biology, Scleroderma (Disease), Skin and Connective Tissue Diseases::Connective Tissue Diseases::Scleroderma, Systemic [DISEASES], técnicas de investigación::métodos epidemiológicos::diseño de la investigación epidemiológica::estudio de asociación genómica completa [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Nucleic Acid Conformation, VISUALIZATION, lcsh:Q, U.S. Gov't, Esclerodèrmia, Research Support, U.S. Gov't, Non-P.H.S, Metaanàlisi, Genetics and Molecular Biology(all), Genome-Wide Association Study
Abstract: Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments., We thank Sofia Vargas, Sonia García, and Gema Robledo for their excellent technical assistance and all the patients and control donors for their essential collaboration. We thank National DNA Bank Carlos III (University of Salamanca, Spain) that supplied part of the control DNA samples from Spain, WTCCC and EIRA Consortiums, and PopGen 2.0 network. This work was supported by Spanish Ministry of Economy and Competitiveness (grant ref. SAF2015-66761-P), Consejeria de Innovacion, Ciencia y Tecnologia, Junta de Andalucía (P12-BIO-1395), Ministerio de Educación, Cultura y Deporte through the program FPU, Juan de la Cierva fellowship (FJCI-2015-24028), Red de Investigación en Inflamación y Enfermadades Reumaticas (RIER) from Instituto de Salud Carlos III (RD16/0012/0013), and Scleroderma Research Foundation and NIH P50- HG007735 (to H.Y.C.). H.Y.C. is an Investigator of the Howard Hughes Medical Institute. PopGen 2.0 is supported by a grant from the German Ministry for Education and Research (01EY1103). M.D.M and S.A. are supported by grant DoD W81XWH-18-1- 0423 and DoD W81XWH-16-1-0296, respectively
Published: 2019

23. AUTOIMMUNE MYOPATHIES

Author: Suárez-Calvet, X., primary, Alonso-Pérez, J., additional, Carrasco-Rozas, A., additional, Fernández-Simón, E., additional, Piñol-Jurado, P., additional, Castellvi, I., additional, Zamora, C., additional, Martínez-Martínez, L., additional, Alonso-Jiménez, A., additional, Castillo, D., additional, Gallardo, E., additional, Illa, I., additional, and Díaz-Manera, J., additional
Published: 2020
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24. Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis

Author: Diaz-Gallo, LM, Gourh, P, Broen, J, Simeon, C, Fonollosa, V, Ortego-Centeno, N, Agarwal, S, Vonk, MC, Coenen, M, Riemekasten, G, Hunzelmann, N, Hesselstrand, R, Tan, FK, Reveille, JD, Assassi, S, García-Hernandez, FJ, Carreira, P, Camps, MT, Fernandez-Nebro, A, de la Peña, P Garcia, Nearney, T, Hilda, D, González-Gay, MA, Airo, P, Beretta, L, Scorza, R, Herrick, A, Worthington, J, Pros, A, Gómez-Gracia, I, Trapiella, L, Espinosa, G, Castellvi, I, Witte, T, de Keyser, F, Vanthuyne, M, Mayes, MD, Radstake, TRDJ, Arnett, FC, Martin, J, and Rueda, B
Published: 2011
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25. Recommendations for the treatment of anti-melanoma differentiation-associated gene 5-positive dermatomyositis-associated rapidly progressive interstitial lung disease

Author: Romero-Bueno, F., primary, Diaz del Campo, P., additional, Trallero-Araguás, E., additional, Ruiz-Rodríguez, J.C., additional, Castellvi, I., additional, Rodriguez-Nieto, M.J., additional, Martínez-Becerra, M.J., additional, Sanchez-Pernaute, O., additional, Pinal-Fernandez, I., additional, Solanich, X., additional, Gono, T., additional, Gonzalez-Gay, M.A., additional, Plana, M.N., additional, and Selva-O'Callaghan, A., additional
Published: 2020
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26. LAUDES Study: impact of digital ulcers on hand functional limitation, work productivity and daily activities, in systemic sclerosis patients

Author: Castellvi, I, Eguiluz, S, Escudero-Contreras, A, Rios, JJ, Calvo-Alen, J, Callejas-Rubio, JL, De la Puente, C, Simeon, CP, Narvaez, FJ, Espinosa, G, Carreira, PE, Rubio-Rivas, M, Alegre, JJ, Roman-Ivorra, JA, Fonollosa, V, de la Iglesia, BA, Ajo, JB, Perdomo, DB, Catalan, EB, Otano, JB, Rodriguez, JSB, Freire, MC, Alutiz, C, Montes, IC, Lecumberri, MC, Monsalvo, RD, Alvarez, ED, Dubuc, CAE, Arberas, MVE, Mateo, PF, Dapena, FDF, Gonzalez, MF, Aparicio, AG, Hernandez, FJG, de Salazar, JG, Nieto, JAG, Gil, JG, Guillen-Del-Castillo, A, Hidalgo, JI, Mas, TJ, Pineiro, MCL, Longo, FJL, Nunez, LML, Ballve, AM, Fernandez-Cid, CM, Miguelez, R, Rodriguez, MAM, Morales, JM, Morla, RM, Bruno, SO, Marques, AO, Laraundogoitia, EO, Ortego, N, Santamaria, VO, Conesa, MPP, Sandoval, TP, Simon, AP, Lozano, BR, Cid, AR, Comet, LS, Osorio, JS, Lopez, AS, Soler, GS, Guevara, MS, Parra, JAT, Ramos, CT, Beltran, JT, Montanez, JMU, and Rabaneda, EV
Subjects: Quality of life, Scleroderma and related disorders, Disability evaluation, Human activities, Hand
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.
Published: 2019

27. DO ALL ANTIPHOSPHOLIPID ANTIBODIES CONFER THE SAME RISK FOR MAJOR ORGAN INVOLVEMENT IN SLE PATIENTS?

Author: Riancho-Zarrabeitia L, Taboada V, Rua-Figueroa I, Sanchez-Alonso F, Galindo-Izquierdo M, Ovalles J, Olive A, Fernandez-Nebro A, Calvo J, Menor-Almagro R, Muriel E, Isacelaya E, Boteanu A, Andres M, Gonzalez M, Soler G, Lucea E, Barcelo M, Castellvi I, Galisteo C, Vila V, Raya E, Narvaez J, Exposito L, Beriain J, Horcada L, and Pego-Reigosa J
Published: 2019

28. Objectives and methodology of BIOBADASER phase III

Author: Sanchez-Piedra C, Miguel M, Manero J, Rosello R, Sanchez-Costa J, Rodriguez-Lozano C, Campos C, Cuende E, Fernandez-Lopez J, Bustabad S, Domenech R, Perez-Pampin E, del Pino-Montes J, Millan-Arciniegas A, Diaz-Gonzalez F, Gomez-Reino J, Marsal S, Sellas A, Rodriguez B, Barcelo M, Farietta S, Navarro F, Ruiz D, Vargas M, Beltran C, Marzo J, Medrano M, Pecondon A, Lesta A, Vazquez C, Guanabens N, Hernandez M, Sanmarti R, Inciarte J, Canete J, Rodriguez C, Naranjo A, Ojeda S, Hernandez F, Quevedo J, Erausquin C, Hernandez C, Rua I, Fernandez A, Manrique S, Irigoyen M, Urena I, Garcia B, Calvo J, de Vicuna R, Ortiz A, Mateo I, Rodriguez E, Garcia J, Gonzalez C, Lopez F, Valor L, Nieto J, Raya E, Notario I, Soto M, Caliz R, Diaz-Torne C, Milian A, Moya P, Castellvi I, Laiz A, Vela P, Cano R, Martin R, Sivera F, Garcia L, Blanco J, Galindez E, de Toro F, Freire M, Fernandez J, Cogolludo V, Morales J, Rodriguez F, Miguelez R, Fernandez C, Medina J, Sanchez M, Villa C, Mas A, Toniolo E, Cacheda A, Ros I, Ibanez M, Gonzalez M, Martinez V, Pina T, Palmou N, del Pino J, Perez L, Martinez O, Hidalgo C, Quesada A, Manzano G, Montilla C, Munoz S, Illera O, and Grp Trabajo BIOBADASER Fase III
Subjects: Adverse events, Real World Data, Methods, Biological therapy, Safety, Rheumatoid arthritis
Abstract: Objective: Describe the objectives, methods and results of the first year of the new version of the Spanish registry of adverse events involving biological therapies and synthetic drugs with an identifiable target in rheumatic diseases (BIOBADASER III). Methodology: Multicenter prospective registry of patients with rheumatic inflammatory diseases being treated with biological drugs or synthetic drugs with an identifiable target in rheumatology departments in Spain. The main objective of BIOBADASER Phase III is the registry and analysis of adverse events; moreover, a secondary objective was added consisting of assessing the effectiveness by means of the registry of activity indexes. Patients in the registry are evaluated at least once every year and whenever they experience an adverse event or a change in treatment. The collection of data for phase 10 began on 17 December 2015. Results: During the first year, 35 centers participated. The number of patients included in this new phase in December 2016 was 2,664. The mean age was 53.7 years and the median duration of treatment was 8.1 years. In all, 40.4% of the patients were diagnosed with rheumatoid arthritis. The most frequent adverse events were infections and infestations. Conclusions: BIOBADASER Phase III has been launched to adapt to a changing pharmacological environment, with the introduction of biosimilars and small molecules in the treatment of rheumatic diseases. This new stage is adapted to the changes in the reporting of adverse events and now includes information related to activity scores. (C) 2017 Elsevier Espafia, S.L.U. and Sociedad Espafiola de Reumatologia y Colegio Mexicano de Reumatologia. All rights reserved.
Published: 2019

29. Incidence of first cardiovascular event in Spanish patients with inflammatory rheumatic diseases: prospective data from the CARMA Project

Author: Martin-Martinez M, Castaneda S, Gonzalez-Juanatey C, Sanchez-Alonso F, Garcia-Gomez C, Lopez-Gonzalez R, Babio-Herraiz J, Juan-Mas A, Moreno-Gil M, Sanchez-Gonzalez C, Romera-Baures M, Pinto-Tasende J, Tornero-Molina J, Fabregas-Canales D, Llorca J, Gonzalez-Gay M, de Rabago E, Morales E, Lopez J, Villar N, Sandoval A, Garcia F, De Miquel C, Fernandez M, Codina R, Yoldi B, Ramentol M, Avila G, Barril S, Quesada E, Steiner M, Munoz S, Cobo T, Gamero F, Toron J, Espino P, Ros I, Ibanez M, Murillo C, Sanmarti R, Berman H, Cabrera S, Ruiz V, Paton O, Gutierrez B, Abasolo L, Pina J, Nolla J, Arias M, Vadillo J, de Vicuna R, Nebro A, Arija S, Lopez M, Urena I, Irigoyen M, Cagigal V, Garrido D, Aparicio A, Gomez R, Bautista P, Sanz A, Bachiller J, Manero F, Zorzo F, Ubeda E, Garcia J, Audera C, Medrano M, Pecondon A, Erausquin C, Ojeda S, Quevedo J, Francisco F, Lozano C, Longo F, Gerona D, Fernandez C, Monteagudo I, del Pino J, Gonzalez M, Corrales A, Peiro M, Senabre J, Rosas J, Rotes I, Moreno E, Erra A, Grado D, Calvo J, Rueda A, Moller I, Rodriguez I, Barbadillo C, Raya E, Morales P, Nieto A, Jimenez I, Magro C, Escribano A, Exposito S, Nievas G, Navarro E, Morales M, Bastero I, Consuegra G, Palmou N, Pardo S, Pujol M, Alonso E, Salvador G, Alvarez B, Cantabrana A, Bustabad S, Delgado E, Munoz A, Montero S, Jimenez L, Redondo J, Hernandez T, Polo F, Almagro R, Moreno J, Serret E, Barroso C, Mendez L, Navio M, Carballido C, Pagan E, del Castillo P, Naredo E, Cruz A, Turrion A, Sanchez J, Galindo M, Gonzalez J, Collantes E, Ruiz D, Font P, Bonilla G, Meseguer A, Moreno M, Martinez M, Linares L, Morcillo M, Gomez M, Rivera N, Berrizbeitia O, Vivar M, Riera M, Leon Y, Maymo J, Amirall M, Escolano S, Serrano S, Bona M, Fiter J, Melon J, Espadaler L, Maiz O, Belzunegui J, Banegil I, Diaz C, Valls R, Castellvi I, Bonet M, Ruzafa E, Alen J, Sandoval T, Evrard E, Godo J, Espartero C, Blasco F, Miranda-Filloy J, and CARMA Project Collaborative Grp
Subjects: rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis, incidence, cohort study, CARMA project, cardiovascular diseases
Abstract: Objective To determine the incidence and risk factors of first cardiovascular event (CVE) in patients with chronic inflammatory rheumatic diseases (CIRD). Methods Analysis of data after 2.5 years of follow-up from the prospective study CARMA project, that includes patients with CIRD [rheumatoid arthritis (RA), ankylosing spondylitis (AS), and psoriatic arthritis (PsA)] and matched individuals without CIRD from 67 hospitals in Spain. CVE cumulative incidence per 1000 patients was calculated after 2.5 years from the start of the project. Weibull proportional hazard model was used to calculate hazard ratio (HR) and 95% confidence interval (95% CI) of the risk factors. Results 2595 (89.1%) patients completed the 2.5 years of follow-up visit. Cumulative incidence of CVE in patients with CIRD was 15.30 cases per 1000 patients (95% CI: 12.93-17.67), being higher in the subgroup with AS; 22.03 (95% CI: 11.01-33.04). Patients with AS (HR: 4.11; 95% CI: 1.07-15.79), those with older age (HR: 1.09; 95% CI: 1.05-1.13), systolic hypertension (HR: 1.02; 95% CI: 1.00-1.04) and long duration of the disease (HR: 1.07; 95% CI: 1.03-1.12) were at higher risk of first CVE during the 2.5 years of follow-up. In contrast, female gender was a protective factor (HR: 0.43; 95% CI: 0.18-1.00). Conclusion Among CIRD patients prospectively followed-up at rheumatology outpatient clinics, those with AS show higher risk of first CVE. Besides cardiovascular risk factors, such as hypertension, being a man and older
Published: 2019

30. Outcomes of patients with systemic sclerosis treated with rituximab in contemporary practice: a prospective cohort study

Author: Elhai, M, Boubaya, M, Distler, O, Smith, V, Matucci-Cerinic, M, Sancho, JJ, Truchetet, ME, Braun-Moscovici, Y, Iannone, F, Novikov, PI, Lescoat, A, Siegert, E, Castellvi, I, Airo, P, Vettori, S, Langhe, E, Hachulla, E, Erler, A, Ananieva, L, Krusche, M, Lopez-Longo, FJ, Distler, JHW, Hunzelmann, N, Hoffmann-Vold, AM, Riccieri, V, Hsu, VM, Pozzi, MR, Ancuta, C, Rosato, E, Mihai, C, Kuwana, M, Saketkoo, LA, Chizzolini, C, Hesselstrand, R, Ullman, S, Yavuz, S, Rednic, S, Caimmi, C, Bloch-Queyrat, C, Allanore, Y, Guiducci, S, Walker, UA, Kyburz, D, Lapadula, G, Maurer, B, Jordan, S, Dobrota, R, Becvar, R, Sierakowsky, S, Bielecka, OK, Sulli, A, Cutolo, M, Cuomo, G, Nicoara, I, Kahan, A, Vlachoyiannopoulos, PG, Montecucco, CM, Caporali, R, Stork, J, Inanc, M, Carreira, PE, Novak, S, Czirjak, L, Varju, C, Kucharz, EJ, Kotulska, A, Kopec-Medrek, M, Widuchowska, M, Cozzi, F, Rozman, B, Mallia, C, Coleiro, B, Gabrielli, A, Farge, D, Wu, C, Marjanovic, Z, Faivre, H, Hij, D, Dhamadi, R, Wollheim, F, Scheja, A, Wuttge, DM, Andreasson, K, Martinovic, D, Balbir-Gurman, A, Trotta, F, Lo Monaco, A, Pellerito, R, Mauriziano, O, Caramaschi, P, Morovic-Vergles, J, Black, C, Denton, C, Damjanov, N, Henes, J, Santamaria, VO, Heitmann, S, Krasowska, D, Matthias, Hasler, P, Burkhardt, H, Himsel, A, Bajocchi, G, Da Silva, JAP, Salvador, MJ, Stamenkovic, B, Stankovic, A, Selmi, CF, De Santis, M, Tikly, M, Denisov, LN, Herrick, A, Muller-Ladner, U, Frerix, M, Tarner, I, Scorza, R, Puppo, F, Engelhart, M, Strauss, G, Nielsen, H, Damgaard, K, Szucs, G, Mendoza, AZ, de la Puente, C, Giraldo, WAS, Midtvedt, O, Reiseter, S, Garen, T, Launay, D, Valesini, G, Ionescu, RM, Groseanu, L, Opris, D, Cornateanu, RS, Ionitescu, R, Gherghe, AM, Soare, A, Gorga, M, Bojinca, M, Milicescu, M, Sunderkotter, C, Kuhn, A, Sandorfi, N, Schett, G, Beyer, C, Meroni, P, Ingegnoli, F, Mouthon, L, De Keyser, F, Melsens, K, Cantatore, FP, Corrado, A, Iversen, L, von Muhlen, CA, Bohn, JM, Lonzetti, LS, Eyerich, K, Hein, R, Knott, E, Wiland, P, Szmyrka-Kaczmarek, M, Sokolik, R, Morgiel, E, Madej, M, Houssiau, FA, Krummel-Lorenz, B, Saar, P, Aringer, M, Gunther, C, Westhovens, R, Lenaerts, J, Anic, B, Baresic, M, Mayer, M, Uprus, M, Otsa, K, Granel, B, Muller, CD, Radominski, SC, Azevedo, VF, Jimenez, S, Busquets, J, Agachi, S, Groppa, L, Chiaburu, L, Russu, E, Popa, S, Zenone, T, Pileckyte, M, Mathieu, A, Vacca, A, Sampaio-Barros, PD, Yoshinari, NH, Marangoni, RG, Martin, P, Fuocco, L, Stebbings, S, Highton, J, Chapman, P, O'Donnell, J, Stamp, L, Doube, A, Solanki, K, Veale, D, O'Rourke, M, Loyo, E, Li, MT, Mohamed, WAAA, Amoroso, A, Gigante, A, Oksel, F, Yargucu, F, Tanaseanu, CM, Popescu, M, Dumitrascu, A, Tiglea, I, Foti, R, Chirieac, R, Furst, D, Villiger, P, Adler, S, van Laar, J, Kayser, C, Fathi, N, Hassanien, M, Lefebvre, PGD, Rubio, SR, Exposito, MV, Chatelus, E, Sibilia, J, Gottenberg, JE, Chifflot, H, Litinsky, I, Emery, P, Buch, M, Del Galdo, F, Venalis, A, Butrimiene, I, Venalis, P, Rugiene, R, Karpec, D, Lasky, JA, Cosentino, V, Kerzberg, E, Montoya, F, Bianchi, W, Carneiro, S, Maretti, GB, Bianchi, DV, Limonta, M, Lupi, ALBE, Lupi, E, Rosner, I, Rozenbaum, M, Slobodin, G, Boulman, N, Rimar, D, Couto, M, Kahl, S, Chen, F, McCloskey, D, Malveaux, H, Spertini, F, Ribi, C, Buss, G, Martin, T, Guffroy, A, Poindron, V, Chotchaeva, F, Mukhin, NA, Moiseev, S, EUSTAR Network, Elhai, Muriel, Boubaya, Marouane, Distler, Oliver, Smith, Vanessa, Matucci-Cerinic, Marco, Alegre Sancho, Juan José, Truchetet, Marie-Elise, Braun-Moscovici, Yolanda, Iannone, Florenzo, Novikov, Pavel I, Lescoat, Alain, Siegert, Elise, Castellví, Ivan, Airó, Paolo, Vettori, Serena, De Langhe, Ellen, Hachulla, Eric, Erler, Anne, Ananieva, Lidia, Krusche, Martin, López-Longo, F. J., Distler, Jörg H W, Hunzelmann, Nicola, Hoffmann-Vold, Anna-Maria, Riccieri, Valeria, Hsu, Vivien M, Pozzi, Maria R, Ancuta, Codrina, Rosato, Edoardo, Mihai, Carina, Kuwana, Masataka, Saketkoo, Lesley Ann, Chizzolini, Carlo, Hesselstrand, Roger, Ullman, Susanne, Yavuz, Sule, Rednic, Simona, Caimmi, Cristian, Bloch-Queyrat, Coralie, Allanore, Yannick, and Cuomo, Giovanna
Subjects: Male, Vital capacity, systemic sclerosis, Pulmonary Fibrosis, Vital Capacity, Scleroderma, lung fibrosis, rituximab, skin fibrosis, immune system diseases, DLCO, hemic and lymphatic diseases, Immunology and Allergy, Medicine, Prospective Studies, Registries, skin and connective tissue diseases, Prospective cohort study, Lung, skin fibrosi, Skin, ddc:616, integumentary system, Orvostudományok, Middle Aged, Respiratory Function Tests, lung fibrosis, rituximab, skin fibrosis, systemic sclerosis, Treatment Outcome, lung fibrosi, Antirheumatic Agents, Systemic sclerosis, Rituximab, Female, systemic sclerosi, medicine.drug, Adult, medicine.medical_specialty, Immunology, Klinikai orvostudományok, General Biochemistry, Genetics and Molecular Biology, FEV1/FVC ratio, Rheumatology, Internal medicine, Humans, Adverse effect, Propensity Score, Aged, Biochemistry, Genetics and Molecular Biology (all), Scleroderma, Systemic, Skin fibrosis, business.industry, medicine.disease, Fibrosis, Lung fibrosis, business
Abstract: ObjectiveTo assess the safety and efficacy of rituximab in systemic sclerosis (SSc) in clinical practice.MethodsWe performed a prospective study including patients with SSc from the European Scleroderma Trials and Research (EUSTAR) network treated with rituximab and matched with untreated patients with SSc. The main outcomes measures were adverse events, skin fibrosis improvement, lung fibrosis worsening and steroids use among propensity score-matched patients treated or not with rituximab.Results254 patients were treated with rituximab, in 58% for lung and in 32% for skin involvement. After a median follow-up of 2 years, about 70% of the patients had no side effect. Comparison of treated patients with 9575 propensity-score matched patients showed that patients treated with rituximab were more likely to have skin fibrosis improvement (22.7 vs 14.03 events per 100 person-years; OR: 2.79 [1.47–5.32]; p=0.002). Treated patients did not have significantly different rates of decrease in forced vital capacity (FVC)>10% (OR: 1.03 [0.55–1.94]; p=0.93) nor in carbon monoxide diffusing capacity (DLCO) decrease. Patients having received rituximab were more prone to stop or decrease steroids (OR: 2.34 [1.56–3.53], pConclusionRituximab use was associated with a good safety profile in this large SSc-cohort. Significant change was observed on skin fibrosis, but not on lung. However, the limitation is the observational design. The potential stabilisation of lung fibrosis by rituximab has to be addressed by a randomised trial.
Published: 2019

31. ANTIPHOSPHOLIPID SYNDROME (APS) IN SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) LEADS TO A MORE SEVERE DISEASE

Author: Riancho-Zarrabeitia, L, Taboada, V, Rua-Figueroa, I, Sanchez-Alonso, F, Galindo-Izquierdo, M, Ovalles, J, Olive, A, Fernandez-Nebro, A, Calvo, J, Almagro, R, Muriel, E, Isacelaya, E, Boteanu, A, Andres, M, Gonzalez, M, Soler, G, Lucea, E, Barcelo, M, Castellvi, I, Galisteo, C, Vila, V, Raya, E, Narvaez, J, Exposito, L, Beriain, J, Horcada, L, and Pego-Reigosa, J
Published: 2019

32. Apremilast in Combination vs Monotherapy for Refractory Oral And/or Genital Ulcers in Behcet's Disease: National Multicenter Study of 51 Cases

Author: Atienza-Mateo B, Calderon-Goercke M, Prieto-Pena D, Gonzalez-Mazon I, Sanchez-Bilbao L, Martin-Varillas J, Loricera J, Rio V, Grana J, Espinosa G, Moriano C, Perez-Sandoval T, Martin-Martinez M, Diez E, Garcia-Armario M, Martinez E, Castellvi I, Alvarado P, Sivera F, Calvo-Alen J, de la Morena I, Ortiz-Sanjuan F, Roman-Ivorra J, Perez-Gomez A, Heredia S, Olive-Marques A, Prior-Espanol A, Diez C, Alegre-Sancho J, Ybanez A, Martinez-Ferrer A, Narvaez J, Figeras I, Turrion A, Romero-Yuste S, Trenor P, Ojeda S, Gonzalez-Gay M, and Blanco R
Published: 2019

33. ESSDAI activity index of the SJoGRENSER cohort: analysis and comparison with other European cohorts

Author: Rosas J, Sanchez-Piedra C, Fernandez-Castro M, Andreu J, Martinez-Taboada V, Olive A, Menor R, Rodriguez B, Aparicio A, Longo F, Manrique-Arija S, Vadillo J, Barato S, Lopez-Gonzalez R, Narvaez F, Galisteo C, Martin J, Lucea E, Naranjo A, Erausquin C, Rua-Figueroa I, Illera O, Romani L, Melchor S, Moreira B, Raya E, Lopez M, Mourino C, Pego J, Cid N, Judez E, Moriano C, Torrente V, Corominas H, Magallon B, Astete C, Castellvi I, Bohorquez C, Loricera J, Belzunegui J, and Cobo T
Subjects: SJoGRENSER, Cohort study, Primary Sjogren syndrome, ESSDAI
Abstract: The objective of the study was to assess the ESSDAI index characteristics in the SJoGRENSER cohort (Spanish Rheumatology Association's registry of patients with Primary Sjogren Syndrome [PSS]). SJoGRENSER is a prospective multicentric study on a cohort of Spanish patients with PSS who meet the 2002 American-European consensus from rheumatology units. 298 variables were studied in patients for the inclusion of the study from an anonymous list from each department. The ESSDAI (EULAR Sjogren's syndrome disease activity index) includes 12 domains and measures systematic activity in PSS patients. Each domain is divided into 3-4 levels, (0: no activity; 1: low activity; 2: moderate activity; 3: high activity) and is attributed a weight. Each domain score is obtained by multiplying the activity level by the weight assigned. According to ESSDAI: low activity
Published: 2019

34. Hyperlipoproteinaemia(a) in patients with spondyloarthritis: results of the Cardiovascular in Rheumatology (CARMA) project

Author: Garcia-Gomez, C, Martin-Martinez, M, Fernandez C, Castaneda, S, Gonzalez-Juanatey, C, Sanchez-Alonso, F, Gonzalez-Fernandez, M, Sanmarti, R, Garcia-Vadillo, J, Fernandez-Gutierrez, B, Garcia-Arias, M, Manero, F, Senabre, J, Rueda-Cid, A, Ros-Exposito, S, Pina-Salvador, J, Erra-Duran, A, Moller-Parera, I, Llorca, J, Gonzalez-Gay, M, Gonzalez de Rabago, E, Blanco Morales, E, Fernandez Lopez, J, Oreiro Villar, N, Atanes Sandoval, A, Blanco Garcia, F, Alegre De Miquel, C, Gonzalez Fernandez, M, Huguet Codina, R, Yoldi, B, Ramentol, M, Avila, G, Marsal Barril, S, Steiner, M, Munoz, S, Gamero, F, Garcia Toron, J, Moreno Gil, M, Mas, A, Espino, P, Ros, I, Ibanez, M, Murillo, C, Piqueras, J, Berman, H, Cabrera, S, Ruiz, V, Fontsere Paton, O, Fernandez Gutierrez, B, Abasolo, L, Fabregas, M, Romera Baures, M, Nolla, J, Gonzalez-Alvaro, I, Tomero Muriel, E, Garcia de Vicuna, R, Fernandez Nebro, A, Belmonte Lopez, M, Urena, I, Irigoyen, M, Coret Cagigal, V, Lopez Gonzalez, R, Pielfort Garrido, D, Sampedro Alvarez, J, Garcia Aparicio, A, Belmonte Gomez, R, Granados Bautista, P, Hernandez Sanz, A, Sanchez Gonzalez, C, Bachiller, J, Zea, A, Jimenez Zorzo, F, Gimenez Ubeda, E, Marzo Gracia, J, Beltran Audera, C, Medrano, M, Pecondon, A, Erausquin, C, Ojeda, S, Carlos Quevedo, J, Francisco, F, Rodriguez Lozano, C, Babio Herraez, J, Lopez Longo, F, Gerona, D, Gonzalez Fernandez, C, Carreno, L, Monteagudo, I, del Pino, J, Sanchez Gonzalez, M, Corrales, A, Enriqueta Peiro, M, Rosas, J, Rotes, I, Moreno, E, Erra, A, Grado, D, Calvo, J, Rueda, A, Moller, I, Rodriguez, I, Barbadillo, C, Raya, E, Morales, P, Nieto, A, Jimenez, I, Magro, C, Ruibal Escribano, A, Ros Exposito, S, Sanchez Nievas, G, Judez Navarro, E, Sianes Fernandez, M, Garcia Morales, M, Labiano Bastero, I, Consuegra, G, Palmou, N, Martinez Pardo, S, Pujol, M, Riera Alonso, E, Salvador, G, Gonzalez Alvarez, B, Cantabrana, A, Bustabad, S, Delgado, E, Munoz, A, Rodriguez Montero, S, Maria Jimenez, L, Rivera Redondo, J, Gonzalez Hernandez, T, Gonzalez Polo, F, Menor Almagro, R, Moreno, J, Giner Serret, E, Lannuzzelli Barroso, C, Cebrian Mendez, L, Teresa Navio, M, Fernandez Carballido, C, Pagan, E, Mesa del Castillo, P, Naredo, E, Cruz, A, Turrion, A, Mateo, I, Sanchez, J, Galindo, M, Garcia Gonzalez, J, Collantes, E, Ruiz, D, Font, P, Bonilla, G, Lopez Meseguer, A, Moreno, M, Moreno Martinez, M, Beteta Fernandez, M, Linares, L, Morcillo, M, Gonzalez Gomez, M, Aramburu, J, Rivera, N, Fernandez Berrizbeitia, O, Garcia Vivar, M, Riera, M, Maria Leon, Y, Maymo, J, Amirall, M, Iniesta Escolano, S, Sanchez Serrano, S, Lis Bona, M, Fiter, J, Fernandez Melon, J, Espadaler, L, Maiz, O, Belzunegui, J, Banegil, I, Diaz, C, Valls, R, Castellvi, I, Bonet, M, Moreno Ruzafa, E, Calvo Alen, J, Perez Sandoval, T, Revuelta Evrard, E, Godo, J, Fernandez Espartero, C, Navarro Blasco, F, Antonio Gonzalez, J, Miranda-Filloy, J, and CARMA Project Collaborative Grp
Subjects: musculoskeletal diseases, psoriatic arthritis, lipids, stomatognathic diseases, cardiovascular disease, lipoprotein(a), ankylosing spondylitis, spondyloarthritis
Abstract: Objective Cardiovascular (CV) disease is one of the main causes of morbi-mortality in spondyloarthritis (SpA), partially explained by traditional CV risk factors. Information on lipoprotein(a) [Lp(a)], a non-conventional risk factor, in SpA is scarce. In this study we assessed the prevalence of hyperlipoproteinaemia(a) in SpA patients and analysed the possible related factors. Methods A baseline analysis was made of ankylosing spondylitis (AS) and psoriatic arthritis (PsA) patients and controls included in the CARMA project (CARdiovascular in RheuMAtology), a 10-year prospective study evaluating the risk of CV events in chronic inflammatory rheumatic diseases. A multivariate logistic regression model was performed using hyperlipoproteinaemia( a) (Lp(a) >50 mg/dl) as a dependent variable and adjusting for confounding factors. Results 19.2% (95% CI: 16.80-22.05) of the SpA patients [20.7% (95% CI: 16.91-24.82) of those with AS and 17.7% (95% CI: 14.15-21.75) of those with PsA] and 16.7% (95% CI: 13.23-20.86) of the controls had hyperlipoproteinaemia(a) (p=0.326). Adjusting for age and sex, SpA patients were more likely to have hyperlipoproteinaemia(a) than controls (OR: 1.43, 95% CI: 1.00-2.04; p=0.05), especially those with AS (OR: 1.81, 95% CI: 1.18-2.77; p=0.007). In the adjusted model, apolipoprotein B in all patients, non-steroidal anti-inflammatory drugs in AS, and female sex in PsA, were associated with hyperlipoproteinaemia(a). No disease-specific factors associated with hyperlipoproteinaemia(a) were identified. Conclusion SpA patients show a moderately increased risk of hyperlipoproteinaemia(a) compared to controls, especially those with AS. Lp(a) determination may be of interest to improve the CV risk assessment in SpA patients.
Published: 2019

35. Nailfold Videocapillaroscopic Features and Other Clinical Risk Factors for Digital Ulcers in Systemic Sclerosis: A Multicenter, Prospective Cohort Study

Author: Cutolo, Maurizio, Herrick, Ariane L., Distler, Oliver, Becker, Mike O., Beltran, Emma, Carpentier, Patrick, Ferri, Clodoveo, Inanç, Murat, Vlachoyiannopoulos, Panayiotis, Chadha‐Boreham, Harbajan, Cottreel, Emmanuelle, Pfister, Thomas, Rosenberg, Daniel, Torres, Juan V., Smith, Vanessa, Becker, Mike, Erlacher, L, Hirschl, M, Kiener, HP, Pilger, E, Smith, V, Blockmans, D, Wautrecht, J‐C, Becvár, R, Carpentier, P, Frances, C, Lok, C, Sparsa, A, Hachulla, E, Quere, I, Allanore, Y, Agard, C, Riemekasten, G, Hunzelmann, N, Stücker, M, Ahmadi‐Simab, K, Sunderkötter, C, Wohlrab, J, Müller‐Ladner, U, Schneider, M, Vlachoyianopoulos, P, Vassilopoulos, D, Drosos, A, Antonopoulos, A, Balbir‐Gurman, A, Langevitz, P, Rosner, I, Levy, Y, Cutolo, M, Bombardieri, S, Ferraccioli, G, Mazzuca, S, Grassi, W, Lunardi, C, Airó, P, Riccieri, V, Voskuyl, AE, Schuerwegh, A, Santos, L, Rodrigues, AC, Grilo, A, Amaral, MC, Román Ivorra, JA, Castellvi, I, Distler, O, Spertini, F, Müller, R, Inanç, M, Oksel, F, Turkcapar, N, Herrick, A, Denton, C, McHugh, N, Chattopadhyay, C, Hall, F, Buch, M, University of Zurich, and Cutolo, Maurizio
Subjects: 0301 basic medicine, Male, EUSTAR DATABASE, Settore MED/16 - REUMATOLOGIA, RAYNAUDS-PHENOMENON, PREDICTION, 2745 Rheumatology, Logistic regression, Microscopic Angioscopy, Cohort Studies, 0302 clinical medicine, Risk Factors, Medicine and Health Sciences, Immunology and Allergy, Prospective Studies, Prospective cohort study, digital ulcers, systemic sclerosis, nailfold capillaroscopy, Peripheral Vascular Diseases, Digital Ulcers, 10051 Rheumatology Clinic and Institute of Physical Medicine, Area under the curve, VASCULAR-DISEASE, Middle Aged, MICROVASCULAR DAMAGE, 2723 Immunology and Allergy, digital ulcers, Rheumatology, Immunology, Female, medicine.symptom, SEVERE ORGAN INVOLVEMENT, Cohort study, Adult, PULMONARY ARTERIAL-HYPERTENSION, medicine.medical_specialty, nailfold capillaroscopy, 610 Medicine & health, CAPILLAROSCOPIC ANALYSIS, Systemic Sclerosis, Fingers, 03 medical and health sciences, Videocapillaroscopy, Digital Ulcers, Systemic Sclerosis, Scleroderma, Limited, Internal medicine, Skin Ulcer, medicine, Humans, Videocapillaroscopy, Aged, 030203 arthritis & rheumatology, 2403 Immunology, Scleroderma, Systemic, ENDOTHELIN RECEPTOR ANTAGONIST, Receiver operating characteristic, business.industry, Skin ulcer, Confidence interval, Surgery, 030104 developmental biology, ROC Curve, Observational study, EULAR SCLERODERMA TRIALS, business
Abstract: Objective To identify nailfold videocapillaroscopic features and other clinical risk factors for new digital ulcers (DUs) during a 6-month period in patients with systemic sclerosis (SSc). Methods In this multicenter, prospective, observational cohort study, the videoCAPillaroscopy (CAP) study, we evaluated 623 patients with SSc from 59 centers (14 countries). Patients were stratified into 2 groups: a DU history group and a no DU history group. At enrollment, patients underwent detailed nailfold videocapillaroscopic evaluation and assessment of demographic characteristics, DU status, and clinical and SSc characteristics. Risk factors for developing new DUs were assessed using univariable and multivariable logistic regression (MLR) analyses. Results Of the 468 patients in the DU history group (mean ± SD age 54.0 ± 13.7 years), 79.5% were female, 59.8% had limited cutaneous SSc, and 22% developed a new DU during follow-up. The strongest risk factors for new DUs identified by MLR in the DU history group included the mean number of capillaries per millimeter in the middle finger of the dominant hand, the number of DUs (categorized as 0, 1, 2, or ≥3), and the presence of critical digital ischemia. The receiver operating characteristic (ROC) of the area under the curve (AUC) of the final MLR model was 0.738 (95% confidence interval [95% CI] 0.681–0.795). Internal validation through bootstrap generated a ROC AUC of 0.633 (95% CI 0.510–0.756). Conclusion This international prospective study, which included detailed nailfold videocapillaroscopic evaluation and extensive clinical characterization of patients with SSc, identified the mean number of capillaries per millimeter in the middle finger of the dominant hand, the number of DUs at enrollment, and the presence of critical digital ischemia at enrollment as risk factors for the development of new DUs.
Published: 2016

36. UTILITY OF APREMILAST IN REFRACTORY ORAL AND/OR GENITAL ULCERS IN BEHCET'S DISEASE

Author: Atienza-Mateo B, Loricera J, Garcia-Armario M, Castellvi I, Sivera F, Grana J, Calvo-Alen J, de la Morena I, Ortiz-Sanjuan F, Roman-Ivorra J, Perez-Gomez A, Heredia S, Diez C, Alegre J, Moriano C, Diez E, Perez T, Martin M, Ybanez A, Narvaez J, Turrion A, Romero-Yuste S, Dominguez-Casas L, Vegas-Revenga N, Martin-Varillas J, Hernandez J, Gonzalez-Vela C, Gonzalez-Gay M, and Blanco R
Published: 2018

37. A MIF PROMOTER POLYMORPHISM IS ASSOCIATED WITH THE SUSCEPTIBILITY TO PULMONARY ARTERIAL HYPERTENSION IN DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS PATIENTS

Author: Lopez-Isac, E., Bossini-Castillo, L., Campillo-Davo, D., Carmona, F.D., Simeon, C.P., Carreira, P., Callejas-Rubio, J.L., Castellvi, I., Fernandez-Nebro, A., Rodriguez-Rodriguez, L., Rivas, M.R., Hernandez, F.J.G., Madronero, A.B., Beretta, L., Santaniello, A., Lunardi, C., Airo, P., Hoffmann-Vold, A.M., Kreuter, A., Riemekasten, G., Witte, T., Hunzelmann, N., Vonk, M.C., Voskuyl, A.E., Bouwstra, J.D.V., Shiels, P., Herrick, A., Worthington, J., Radstake, T.R.D.J., Martin, J., and Scleroderma Grp s
Published: 2017

38. Mycobacterial Infection in Systemic Lupus Erythematosus: Clinical Significance and Associated Factors. Data from the Registry of Patients with SLE of the Spanish Society of Rheumatology (RELESSER)

Author: Lois-Iglesias, A, del Campo-Perez, V, Rua-Figueroa, I, Mourino-Rodriguez, C, Longo, FJL, Galindo, M, Calvo-Alen, J, Ruan, JI, Olive, A, Gonzalez, RBM, Fernandez-Nebro, A, Bernal, JA, Erausquin, C, Tomero, E, Horcada, ML, Uriarte, E, Freire, M, Montilla-Morales, CA, Atrio, AS, Boteanu, A, Alvarez, ED, Narvaez, J, Taboada, VM, Fernandez, LS, Lucea, ER, Andreu, JL, Beirain, JH, Gantes, M, Hernandez-Cruz, B, Venegas, JJP, Espanol, AP, Lozano-Rivas, N, Barcelo, MI, Bonilla, G, Torrente, V, Castellvi, I, Alegre, JJ, Moreno, M, de la Fuente, JLM, Magro-Checa, C, Rodriguez, TV, Quevedo, V, Richi, P, Sanchez, MTO, and Pego-Reigosa, JM
Published: 2017

39. FRI0197 Association of the electrocardiographic disturbances with aortic root dilation in patients with ankylosing spondylitis

Author: Park, H.S., primary, Laiz, A., additional, Alonso, C., additional, Jeria Navarro, S., additional, García-Guillén, A., additional, Millan, M., additional, Moya, P., additional, Magallares, B., additional, Castellvi, I., additional, Diaz-Torne, C., additional, Fernandez, S., additional, Casademont, J., additional, and Corominas, H., additional
Published: 2018
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40. FRI0233 Does gout protect from parkinson’s disease: a case-control study from an urban population

Author: Diaz-Torne, C., primary, Pou, M.A., additional, Orfila, F., additional, Jeria, S., additional, Fernandez, S., additional, Park, H., additional, Castellvi, I., additional, and Corominas, H., additional
Published: 2018
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41. Nailfold capillaroscopic findings in primary Sjogren's syndrome with and without Raynaud's phenomenon and/or positive anti-SSA/Ro and anti-SSB/La antibodies

Author: Corominas, H, Ortiz-Santamaria, V, Castellvi, I, Moreno, M, Morla, R, Clavaguera, T, Erra, A, Martinez-Pardo, S, Ordonez, S, Santo, P, Reyner, P, Gonzalez, MJ, Codina, O, Gelman, MS, Juanola-Roura, X, Olive, A, and Torrente-Segarra, V
Subjects: Connective tissue diseases, Antibodies, antinuclear, Sjogren's syndrome, Raynaud's disease, Systemic sclerosis, Microscopic angioscopy
Abstract: The aim of this study was to assess nailfold capillaroscopic (NC) findings in patients with primary Sjogren's syndrome (PSS) with and without Raynaud's phenomenon (RP) as well as in the presence of positive anti-SSA/Ro and anti-SSB/La antibodies. Videocapillaroscopy was performed in 150 patients with PSS. Data collected included demographics, presence of RP, PSS symptoms, antinuclear antibodies, rheumatoid factor, anti-Ro, anti-La, anti-CCP, salivary scintigraphy, labial biopsy, and NC findings. RP was present in 32 % of PSS, keratoconjunctivitis sicca in 91 %, oral xerosis in 93 %, and skin or genital xerosis in 53 %. In patients with positive anti-SSA/Ro (75 %) and positive anti-SSB/La (40 %), NC showed normal findings in 53 % of cases and nonspecific in 36 %. In patients with PSS, NC was normal in 51 % of cases and non-specific in 34 %. Scleroderma pattern was found in 14 patients. RP associated with PSS had non-specific capillaroscopy in 40 % of cases (p = 0.1). Pericapillary haemorrhages (p = 0.06) and capillary thrombosis (p = 0.2) were not increased, but more dilated capillaries were detected in 48 % of cases. Patients with positive anti-Ro and/or anti-La have not a distinct NC profile. Patients with RP associated with PSS had more dilated capillaries, but neither pericapillary haemorrhages nor capillary thrombosis was observed.
Published: 2016

42. Nailfold Videocapillaroscopic Features and Other Clinical Risk Factors for Digital Ulcers in Systemic Sclerosis: A Multicenter, Prospective Cohort Study

Author: Cutolo, M. Herrick, A.L. Distler, O. Becker, M.O. Beltran, E. Carpentier, P. Ferri, C. Inanç, M. Vlachoyiannopoulos, P. Chadha-Boreham, H. Cottreel, E. Pfister, T. Rosenberg, D. Torres, J.V. Smith, V. Erlacher, L. Hirschl, M. Kiener, H.P. Pilger, E. Blockmans, D. Wautrecht, J.-C. Becvár, R. Frances, C. Lok, C. Sparsa, A. Hachulla, E. Quere, I. Allanore, Y. Agard, C. Riemekasten, G. Hunzelmann, N. Stücker, M. Ahmadi-Simab, K. Sunderkötter, C. Wohlrab, J. Müller-Ladner, U. Schneider, M. Vlachoyianopoulos, P. Vassilopoulos, D. Drosos, A. Antonopoulos, A. Balbir-Gurman, A. Langevitz, P. Rosner, I. Levy, Y. Bombardieri, S. Ferraccioli, G. Mazzuca, S. Grassi, W. Lunardi, C. Airó, P. Riccieri, V. Voskuyl, A.E. Schuerwegh, A. Santos, L. Rodrigues, A.C. Grilo, A. Amaral, M.C. Román Ivorra, J.A. Castellvi, I. Spertini, F. Müller, R. Oksel, F. Turkcapar, N. Herrick, A. Denton, C. McHugh, N. Chattopadhyay, C. Hall, F. Buch, M. on behalf of the CAP Study Investigators
Abstract: Objective: To identify nailfold videocapillaroscopic features and other clinical risk factors for new digital ulcers (DUs) during a 6-month period in patients with systemic sclerosis (SSc). Methods: In this multicenter, prospective, observational cohort study, the videoCAPillaroscopy (CAP) study, we evaluated 623 patients with SSc from 59 centers (14 countries). Patients were stratified into 2 groups: a DU history group and a no DU history group. At enrollment, patients underwent detailed nailfold videocapillaroscopic evaluation and assessment of demographic characteristics, DU status, and clinical and SSc characteristics. Risk factors for developing new DUs were assessed using univariable and multivariable logistic regression (MLR) analyses. Results: Of the 468 patients in the DU history group (mean ± SD age 54.0 ± 13.7 years), 79.5% were female, 59.8% had limited cutaneous SSc, and 22% developed a new DU during follow-up. The strongest risk factors for new DUs identified by MLR in the DU history group included the mean number of capillaries per millimeter in the middle finger of the dominant hand, the number of DUs (categorized as 0, 1, 2, or ≥3), and the presence of critical digital ischemia. The receiver operating characteristic (ROC) of the area under the curve (AUC) of the final MLR model was 0.738 (95% confidence interval [95% CI] 0.681–0.795). Internal validation through bootstrap generated a ROC AUC of 0.633 (95% CI 0.510–0.756). Conclusion: This international prospective study, which included detailed nailfold videocapillaroscopic evaluation and extensive clinical characterization of patients with SSc, identified the mean number of capillaries per millimeter in the middle finger of the dominant hand, the number of DUs at enrollment, and the presence of critical digital ischemia at enrollment as risk factors for the development of new DUs. © 2016, American College of Rheumatology
Published: 2016

43. Shrinking lung syndrome in systemic lupus erythematosus A case series and review of the literature

Author: Borrell, H, Narvaez, J, Alegre, JJ, Castellvi, I, Mitjavila, F, Aparicio, M, Armengol, E, Molina-Molina, M, and Nolla, JM
Subjects: systemic lupus erythematosus, physiopathology, shrinking lung syndrome, imaging techniques
Abstract: Shrinking lung syndrome (SLS) is a rare and less known complication mainly associated with systemic lupus erythematosus (SLE). In this study, we analyze the clinical features, investigation findings, approaches to management, and outcome in a case series of 9 adult patients with SLE and SLS diagnosed during a 35-year period in 3 referral tertiary care hospitals in Spain. Additionally, we reviewed 80 additional cases previously reported (PubMed 1965-2015). These 80 cases, together with our 9 patients, form the basis of the present analysis. The overall SLS prevalence in our SLE population was 1.1% (9/829). SLS may complicate SLE at any time over its course, and it usually occurs in patients without previous or concomitant major organ involvement. More than half of the patients had inactive lupus according to SELENA-systemic lupus erythematosus disease activity index (SLEDAI) scores. Typically, it presents with progressive exertional dyspnea of variable severity, accompanied by pleuritic chest pain in 76% of the cases. An important diagnostic delay is common. The diagnostic tools that showed better yield for SLS detection are the imaging techniques (chest x-ray and high-resolution computed tomography) along with pulmonary and diaphragmatic function tests. Evaluation of diaphragm dome motion by M-mode ultrasonography and phrenic nerve conduction studies are less useful. There are no standardized guidelines for the treatment of SLS in SLE. The majority of patients were treated with medium or high doses of glucocorticoids. Several immunosuppressive agents have been used in conjunction with steroids either if the patient fails to improve or since the beginning of the treatment. Theophylline and beta-agonists, alone or in combination with glucocorticoids, have been suggested with the intent to increase diaphragmatic strength. The overall long-term prognosis was good. The great majority of patients had significant clinical improvement and stabilization, or mild to moderate improvement on pulmonary function tests. The mortality rate was very low.
Published: 2016

44. SAT0379 Nailfold capillaroscopy findings in patients with inflammatory myopathy and/or specific or associated antibodies

Author: Arciniegas, AM Millan, primary, Martinez, MA, additional, Baucells, A, additional, Juarez, C, additional, Martinez, L, additional, Park, HS, additional, Magallares, B, additional, Laiz, A, additional, Moya, P, additional, Llobet, JM, additional, Torne, C Diaz, additional, and Castellvi, I, additional
Published: 2017
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45. AB1027 The utility of lip biopsy in patients diagnosed of IPAF (interstitial pneumonia with autoimmune features)

Author: Park, HS, primary, Millan, P, additional, Castillo, D, additional, Millan, M, additional, Moya, P, additional, Magallares, B, additional, Laiz, A, additional, Diaz, C, additional, Llobet, JM De, additional, and Castellvi, I, additional
Published: 2017
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46. Adalimumab regulates intracellular TNF alpha production in patients with rheumatoid arthritis

Author: Zamora-Atenza, C, Diaz-Torne, C, Geli, C, Diaz-Lopez, C, Ortiz, MA, Moya, P, Castellvi, I, Nieto, JC, Canto, E, Casademont, J, Juarez, C, Llobet, JM, and Vidal, S
Abstract: Introduction: Adalimumab is a fully human anti-tumor necrosis factor a (anti-TNF alpha) monoclonal antibody that specifically blocks the interaction of TNF alpha with its receptors. It binds both soluble and transmembrane TNF alpha. We hypothesized that blocking these TNF alpha signals regulates the altered TNF alpha production in rheumatoid arthritis (RA) patients. Methods: We compared, by flow cytometry, Toll-like receptor induction levels of membrane and intracellular TNF alpha in monocytes (iTNF alpha + CD14+ cells) from 12 patients before and after adalimumab treatment with those from 5 healthy donors. Results: Before starting the treatment, the percentage of iTNF alpha+ CD14+ cells in the RA patients was significantly lower than that in healthy donors (mean +/- SEM = 33.16 +/- 4.82% vs 66.51 +/- 2.4%, P < 0.001). When we added in vitro TNF alpha to healthy donor culture cells, levels of iTNF alpha+ CD14+ cells decreased, suggesting that the TNF alpha signal was responsible for the iTNF alpha+ CD14+ cell downregulation observed in the RA patients. After 2, 6 and 12 adalimumab injections, we observed significant blocking of membrane and soluble TNF alpha and a progressive increase in iTNF alpha+ CD14+ cells in ten patients with a good to moderate response as defined by the European League Against Rheumatism (EULAR) criteria. Levels of iTNF alpha+ CD14+ cells after 12 injections in these 10 patients were comparable to levels in healthy donors. In two patients, iTNF alpha+ CD14+ cell upregulation was not observed, and their EULAR-defined responses had not improved. The first patient developed antiadalimumab antibodies, explaining why adalimumab was not able to block membrane and soluble TNF alpha. In the second patient, adalimumab was discontinued because of adverse effects, which led to a decrease in iTNF alpha+ CD14+ cells to levels measured before treatment. Conclusions: Our findings suggest that adalimumab treatment in RA patients can return iTNF alpha levels to those of healthy donors. This effect was not observed in the presence of neutralizing antiadalimumab antibodies.
Published: 2014

47. DUO Registry Group. Functional impairment of systemic scleroderma patients with digital ulcerations: results from the DUO Registry

Author: Guillevin, L, Hunsche, E, Denton, Cp, Krieg, T, Schwierin, B, Rosenberg, D, Matucci Cerinic, M, DUO Registry Group Collaborators Raffier, B, Hirschi, M, Trautinger, F, Schmidt, P, Stetter, M, Hundstorfer, M, Reinhart, V, Monshi, B, Pirkhammer, D, Richter, L, Hamberger, N, Metz, S, Feldmann, R, Semmelweis, K, Lackner, K, Tomi, N, Kolle, H, Hafner, F, Brodmann, M, Kuen Spiegel, M, Minmair, G, Heil, Pm, Broil, H, Holzer, G, Illmer, X, Rintelen, B, Sautner, J, Takacs, M, Thun, M, Zemanova, I, Soukup, T, Smrzova, A, Bohmova, J, Prochazkova, L, Nemec, P, Fojtik, Z, Suchy, D, Becvar, R, Olsen, Ab, Sondergaard, Kh, Luosu jarvi, R, Vidqvist, Kl, Madaule, S, Beneton, N, Maillard, H, Charlanne, H, Granelbrocard, F, Hachulla, E, Hatron, Py, Jourdain, N, Lambert, M, Launay, D, Morell, S, Woijtasik, G, Skowron, F, Zenone, T, Dadban, A, Lok, C, Ferrandiz, D, Magybertrand, N, Moiton, Mp, Taieb, A, Balquiere, S, Belin, E, Droitcourt, C, Julien, S, Prey, S, Boulon, C, Constans, J, Doutre, Ms, Kostrzwewa, E, Richez, C, Greco, M, Misery, L, Sassolas, B, Collet, E, Berthier, S, Leguy Seguin, V, Imbert, B, Carpentier, P, Blaise, S, Couraud, A, Doeffel Hantz, V, Spars, A, Bezanahary, H, Boussely, N, Dumonteil, S, Fauchais, Al, Goudran, G, Loustaud Ratti, V, Manea, P, Vidal, E, Coppere, B, Desmursclavel, H, Girard Madoux MH, Hot, A, Ninet, J, Granel, B, Cohen, Jd, Keynote, A, Khau van Kien, A, Le Quellec, A, Riviere, S, Rullier, P, Bessis, D, Farcas, C, Bravetti, V, Moline, T, Wahl, D, Zuily, S, Granel Brocard, F, Agard, C, Durant, C, Fuzibet, Jg, Queyrel, V, Berezne, A, Mouthon, L, Cabane, J, Tiev, K, Toledano, C, Lazareth, I, Michon Pasturel, U, Priollet, P, Reguiai, Z, Cazaletslacoste, C, Jego, P, Letremy, A, Perlat, A, Duval Modeste AB, Chatelus, E, Chiffot, H, Sibillia, J, Sordet, C, Adoue, D, Couret, B, Moulis, G, Pugnet, G, Sailler, L, Diot, E, Gaches, F, Farge, D, Keshtmand, H, Frances, C, von Elling, A, Bora, D, Ebel, J, Ahmadi Simab, K, Klein, E, Hahn, K, Schulze, K, Rasche, C, Riemekasten, G, Lee, Hh, Deuschle, K, Mattat, K, Becker, M, Worm, M, Mensing, C, Klings, D, Mensing, H, Messall, J, Zuper, R, Eilbacher, P, Saar, P, Kaufmann, P, Hallermann, C, Schmidt, K, Wahn, H, Schildt, K, Schuart, T, Kaczmarczyk, A, Kellner, C, von Oelhafen, J, Baron von Bildering, P, Kunze, S, Kleiner, Hj, Alsheimer, B, Schuetz, N, Miirker Hermann, E, Gottl, Kh, Weiss, E, Reischel, N, Kern, S, Goettl, Kh, Goetheuniversitiitsklinikum, Jw, Himsel, A, Henkemeier, U, Schwarting, A, Hazenbiller, A, Nichelmann, V, Rumbaur, C, Boesenberg, I, Schmeiser, T, Mueller Ladner, U, Unholzer, A, Starz, H, Welzel, J, Plaumann, K, Stoeckl, F, Sperling, S, Podda, M, Wagner, N, Rapprich, H, Niedermeier, A, Messer, G, Sardy, M, Bekou, V, Dill MUller, D, Wlodarz, M, Belloni, B, Huettig, B, Ziai, M, Hein, R, Kneitz, C, Federow, I, Schneider, K, Semmler, M, Hapke, S, Metzler, C, Stein, T, Enderlein, M, Kayser, M, Werthmann, M, Guenther, Cu, Neul, S, Hellmich, B, Loeffler, C, Pflugfelder, J, Karaenke, P, Mueglich, C, Tony, Hp, Marina, P, Popp, M, Mittag, M, Baumann, C, Scheib, Eg, Brand, H, Wilhelm, Hu, Bohm, J, Dyballa, J, Boehm, J, Taggeselle, J, Luthke, K, Wuerzburg, I, Niefanger, K, Mayer, L, Drabek, J, Harmuth, W, Dietl, S, Moritz, D, Gause, A, Gaubitz, M, Hallecker, A, Krupp, E, Rumpel, H, Moosig, F, Frey, P, Kahl, S, Linke, M, Merk, B, Bloching, Hh, Ochs, W, Kurthen, R, Eiden, E, Guertler, I, Aries, Pm, Kirchberg, S, Jahnke, K, Mettler, S, Toeller, S, Zwenger, S, Langer, He, Deininger, F, Hartmann, F, Neeck, G, Neek, G, Wernitzsch, H, Meier, L, Herr, U, Meier, U, Aaig, W, Bruckner, L, Sheikh, N, Wollenhaupt, J, Krog, B, Wollersdorfer, E, Hall, R, Diehm, C, Tiggers, C, Peters, J, Kirschke, J, Schroeder, Jo, Zeuner, R, Uhlig, S, Barth, S, Huegel, R, Glaeser, R, Schaefer, C, Monshausen, M, Mengden, T, Funkert, A, Blank, N, Lupaschko, S, Voss, B, Megahed, M, Sadeghlar, F, Seidel, M, Wasmuth, Jc, Kreuter, A, Vosswinkel, J, Pfoehler, C, Gerber, A, Haust, M, Hoff, Np, Mota, R, Akanay Diesel, S, Homey, B, Katzemich, A, Erfurt Berge, C, Sticherling, M, Beyer, C, Distler, J, Mitchell, A, Freundlieb, C, Rushentsova, U, Hermanns, G, Blaschke, S, Fiene, M, Wessel, C, Norgauer, J, Rabe, B, Schuster, J, Scholz, J, Kremer, K, Robakidze Torbahn, M, Moinzadeh, P, Dohse, A, Muhlack, A, Schultz, L, Schult, S, Frambach, Y, Kruse, S, Kettenbach, A, Fell, I, Schweda, K, Steinbrink, K, Podobinska, M, Fieri beck, G, Schanz, S, Pfeiffer, C, Hassel, R, Herrgott, I, Sunderkoetter, C, Guenzel, J, Athanassiou, P, Dimitroulas, T, Settas, L, Kritikos, I, Tsifetaki, N, Garyfallos, A, Vasilopoulos, D, Boura, P, Kamali, S, Aslanidis, S, Vlachoyannopoulos, P, Galanopoulo, V, Sakkas, L, Koutroubas, A, Elezoglou, T, Galanopoulos, N, Grier, A, Murray, M, O'Rourke, M, Del Papa, N, Maglione, W, Zeni, S, Foti, R, Benenati, A, De Vita, S, Ferraccioli, G, Grassi, W, de Angeli, R, Pomponio, G, Mussi, A, Colonna, L, Airo, P, Zingarelli, S, Scorza, R, Serverino, A, Puppo, F, Negrini, S, Roma, I, Salsano, F, Triolo, G, Mazzuca, S, Carignola, R, Gatti, S, Lunardi, G, Riccieri, V, Salvarani, C, Bajocchi, G, Varcasia, G, Marasini, B, Belloll, L, de Luca, R, Stisi, S, Bellissimo, S, Fusaro, E, Pellerito, R, Cozzi, F, Rizzo, M, Bartoluzzi, A, Trotta, F, Cantatore, F, Corrado, A, Ferri, Claudio, Colaci, M, Malavolta, N, Mule, R, Galeazzi, M, Lapadula, G, Mathieu, A, Vacca, A, Giacomelli, Roberto, Cipriani, Paola, Montecucco, Cm, Codullo, V, Bucci, R, Battaglia, E, Valentini, G, Cuomo, G, Terlizzi, N, Serafino, L, Reumatologia, Uo, Bombardieri, S, Della Rossa, A, Doveri, M, Perricone, R, de Mattia, M, Pallotta, S, Groenendael, Jh, Seys, P, Goekoop, Rj, Han, Kh, Wlarvens, M, Bonte Mineur, F, de Bois MH, de Beus WM, van Zeben, D, Vonk, M, Knaapen, Hk, Smit, A, Bootsma, H, Ton, E, Voskuyl, A, Dutmer, Ea, Stalk, Jn, Madland, Tm, Seip, M, Hoffmann Vold AM, Bitter, H, Stocklund Thomsen, R, Resende, C, Ponte, C, Martinho, S, Silva, F, Ferreira, P, Grilo, A, Riso, N, Santos, C, Camara, I, Costa, J, Alves, J, Oliveira, S, Almeida, I, Silva, I, Cordeiro, A, Coelho, P, Lukac, J, Dolnicar, As, Espinosa, G, Mejia, Jc, Ramos, M, Plasin Rodriguez MA, Mera, A, Blanco, Js, Diaz, Jj, Losada, L, Perez, E, Maneiro, Jr, Caamano, M, Fermindez, S, Insua, Sa, Barbado, J, Fonseca, Em, Nufio, Fj, Castellvi, I, Garcia de Ia Pena, P, Bellido, D, Paulino, M, Garcia, Pv, Salas, V, Minguez, Md, Sanchez, Ma, Urrego, C, Martin, I, Rueda, A, Calvo, J, Ripoll, Mm, Torres, Mc, Corteguera, M, Maceiras, F, Cruz, J, Mosquera, Ja, Gomez, R, Area, B, Carrio, I, Rubio, M, Castellvi Barranco, I, Santos, P, Simeon, Cp, Fonollosa, V, Egurbide, Mv, Garcia de Vicuna, R, Vicente, E, Villaverde, V, Fernandez, C, Garcia, E, Uson, J, Miguelez, R, Callejas, Jl, Ortego, N, Roman, J, Alegre Sancho JJ, Robles, A, Rios, Jj, Bonilla, Mg, Sanchez Andrade, A, Vazquez, Tr, Miranda, Ja, Saez, L, Zea, A, De la Puente, C, Martinez, Fg, Aguirre, Ma, Collado, P, Cruz, A, Crespo, M, Sanchez Roman, J, Castillo, Mj, Garcia, Am, Muniz, G, Hedin, Pj, Stahl, C, Bracin, T, Nordin, A, Albertsson, K, Rydvald, Y, Thorsson, C, Hermansson, E, Maurer, B, Verner, D, Schmidt Bosshard, R, Hall, F, Murphy, K, Lamb, J, Anderson, M, Moots, R, Buch, M, Bissell, L, Madhok, R, Hampson, R, D'Cruz, D, Choong, Lm, Gordon, P, Dobson, J, Salerno, R, Nisar, M, Williams, C, Wilcox, L, Denton, C, Ochiel, R, Ngcozana, T, Parker, L, Vincent, R, Mchugh, N, Cole, S, Brown, S, James, J, Herrick, A, Manning, J, Moore, T, Faizal, A, Skyes, H, Smythe, A, and Hamilton, A.
Published: 2013

48. A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci

Author: Martin, J.E., Assassi, S., Diaz-Gallo, L.M., Broen, J.C.A., Simeon, C.P., Castellvi, I., Vicente-Rabaneda, E., Fonollosa, V., Ortego-Centeno, N., Gonzalez-Gay, M.A., Espinosa, G., Carreira, P., Scleroderma, G. Spanish, consortium, S., group, U.S.S.G., Biolupus, ., Camps, M., Sabio, J.M., D'Alfonso, S., Vonk, M.C., Voskuyl, A.E., Schuerwegh, A.J., Kreuter, A., Witte, T. de, Riemekasten, G., Hunzelmann, N., Airo, P., Beretta, L., Scorza, R., Lunardi, C., Laar, J. van, Chee, M.M., Worthington, J., Herrick, A., Denton, C., Fonseca, C., Tan, F.K., Arnett, F., Zhou, X., Reveille, J.D., Gorlova, O., Koeleman, B.P., Radstake, T.R.D.J., Vyse, T., Mayes, M.D., Alarcon-Riquelme, M.E., Martin, J., Rheumatology, and CCA - Disease profiling
Subjects: SLE, Genome-wide association study, Disease, medicine.disease_cause, Systemic scleroderma, Autoimmunity, 0302 clinical medicine, Risk Factors, Lupus Erythematosus, Systemic, skin and connective tissue diseases, Genetics (clinical), Genetics, 0303 health sciences, education.field_of_study, Association Studies Articles, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, General Medicine, Neoplasm Proteins, 3. Good health, DNA-Binding Proteins, SYSTEMIC SCLEROSIS, Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2], Co-Repressor Proteins, Population, Nerve Tissue Proteins, Receptors, Cell Surface, Single-nucleotide polymorphism, Protein Serine-Threonine Kinases, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Genetic predisposition, medicine, Humans, Genetic Predisposition to Disease, genome-wide association studies, education, Molecular Biology, 030304 developmental biology, Genetic association, 030203 arthritis & rheumatology, Scleroderma, Systemic, Genetic Variation, Reproducibility of Results, medicine.disease, Genetic Loci, Case-Control Studies, Immunology, Genome-Wide Association Study
Abstract: Item does not contain fulltext Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) are two archetypal systemic autoimmune diseases which have been shown to share multiple genetic susceptibility loci. In order to gain insight into the genetic basis of these diseases, we performed a pan-meta-analysis of two genome-wide association studies (GWASs) together with a replication stage including additional SSc and SLE cohorts. This increased the sample size to a total of 21 109 (6835 cases and 14 274 controls). We selected for replication 19 SNPs from the GWAS data. We were able to validate KIAA0319L (P = 3.31 x 10(-11), OR = 1.49) as novel susceptibility loci for SSc and SLE. Furthermore, we also determined that the previously described SLE susceptibility loci PXK (P = 3.27 x 10(-11), OR = 1.20) and JAZF1 (P = 1.11 x 10(-8), OR = 1.13) are shared with SSc. Supporting these new discoveries, we observed that KIAA0319L was overexpressed in peripheral blood cells of SSc and SLE patients compared with healthy controls. With these, we add three (KIAA0319L, PXK and JAZF1) and one (KIAA0319L) new susceptibility loci for SSc and SLE, respectively, increasing significantly the knowledge of the genetic basis of autoimmunity.
Published: 2013

49. The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis

Author: Martin, J.E., Carmona, F.D., Broen, J.C.A., Simeon, C.P., Vonk, M.C., Carreira, P., Rios-Fernandez, R., Espinosa, G., Vicente-Rabaneda, E., Tolosa, C., Garcia-Hernandez, F.J., Castellvi, I., Fonollosa, V., Gonzalez-Gay, M.A., Saez-Comet, L., Portales, R.G., Pena, P.G. de la, Fernandez-Castro, M., Diaz, B., Martinez-Estupinan, L., Coenen, M., Voskuyl, A.E., Schuerwegh, A.J., Vanthuyne, M., Houssiau, F., Smith, V., Keyser, F. de, Langhe, E. de, Riemekasten, G., Witte, T., Hunzelmann, N., Kreuter, A., Palm, O., Chee, M.M., Laar, J.M. van, Denton, C., Herrick, A., Worthington, J., Koeleman, B.P.C., Radstake, T.R.D.J., Fonseca, C., Martin, J., Spanish Scleroderma Grp, Rheumatology, and CCA - Innovative therapy
Subjects: Adult, Interleukin 2, systemic sclerosis, Immunology, PATHOGENESIS, BETA, Genome-wide association study, Locus (genetics), Biology, Polymorphism, Single Nucleotide, anti-centromere auto-antibody, CLASSIFICATION, Autoimmune Diseases, Immune tolerance, Pathogenesis, INTERLEUKIN-2-RECEPTOR, SCLERODERMA, rs12722495, Genetics, medicine, Medicine and Health Sciences, Humans, REGULATORY T-CELLS, Allele, GENOME-WIDE ASSOCIATION, skin and connective tissue diseases, Genomic disorders and inherited multi-system disorders Molecular epidemiology [IGMD 3], Genetics (clinical), Autoimmune disease, Scleroderma, Systemic, IL2RA, rs2104286, Interleukin-2 Receptor alpha Subunit, Odds ratio, Middle Aged, medicine.disease, Infection and autoimmunity Auto-immunity, transplantation and immunotherapy [NCMLS 1], Genetic Loci, rs11594656, Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2], medicine.drug
Abstract: Contains fulltext : 109760.pdf (Publisher’s version ) (Closed access) Regulatory T cells (T(regs)) are crucial in the maintenance of the immune tolerance and seem to have an important role in systemic sclerosis (SSc). The interleukin 2 receptor alpha (IL2RA) is an important T(reg) marker, and polymorphisms of IL2RA gene are associated with a number of autoimmune diseases. Therefore, we aimed to investigate for the first time the association of the IL2RA locus in SSc. For this purpose, a total of 3023 SSc patients and 2735 matched healthy controls, from six European Caucasian cohorts, were genotyped for the IL2RA gene variants rs11594656, rs2104286 and rs12722495 using the TaqMan allelic discrimination technology. The overall meta-analysis reached statistical significance when the three polymorphisms were tested for association with SSc, the limited subtype (lcSSc) and anti-centromere auto-antibodies (ACAs). However, no significant P-values were obtained when the ACA-positive patients were removed from the SSc and lcSSc groups, suggesting that these associations rely on ACA positivity. The strongest association signal with ACA production was detected for rs2104286 (P(FDR)=2.07 x 10(-4), odds ratio=1.30 (1.14-1.47)). The associations of rs11594656 and rs12722495 were lost after conditioning to rs2104286, and allelic combination tests did not evidence a combined effect, indicating that rs2104286 best described the association between IL2RA and ACA presence in SSc. 01 februari 2012
Published: 2012

50. A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations

Author: Bossini-Castillo, L., Martin, J.E., Broen, J., Gorlova, O., Simeon, C.P., Beretta, L., Vonk, M.C., Callejas, J.L., Castellvi, I., Carreira, P., Garcia-Hernandez, F.J., Castro, M.F., Coenen, M.J.H., Riemekasten, G., Witte, T., Hunzelmann, N., Kreuter, A., Distler, J.H.W., Koeleman, B.P., Voskuyl, A.E., Schuerwegh, A.J., Palm, O., Hesselstrand, R., Nordin, A., Airo, P., Lunardi, C., Scorza, R., Shiels, P., Laar, J.M. van, Herrick, A., Worthington, J., Denton, C., Tan, F.K., Arnett, F.C., Agarwal, S.K., Assassi, S., Fonseca, C., Mayes, M.D., Radstake, T.R.D.J., Martin, J., Spanish Scleroderma Grp, Rheumatology, and CCA - Immuno-pathogenesis
Subjects: medicine.medical_specialty, SNP, Single-nucleotide polymorphism, Genome-wide association study, Locus (genetics), Systemic Sclerosis, Biology, Polymorphism, Single Nucleotide, White People, Genetics, medicine, Humans, GWAS, Genetic Predisposition to Disease, Genomic disorders and inherited multi-system disorders Molecular epidemiology [IGMD 3], Molecular Biology, Genetics (clinical), Genetic association, Scleroderma, Systemic, Association Studies Articles, Receptors, Interleukin-12, General Medicine, Odds ratio, Infection and autoimmunity Auto-immunity, transplantation and immunotherapy [NCMLS 1], United States, Europe, Cohort, Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2], Medical genetics, Follow-Up Studies, Genome-Wide Association Study
Abstract: A single-nucleotide polymorphism (SNP) at the IL12RB2 locus showed a suggestive association signal in a previously published genome-wide association study (GWAS) in systemic sclerosis (SSc). Aiming to reveal the possible implication of the IL12RB2 gene in SSc, we conducted a follow-up study of this locus in different Caucasian cohorts. We analyzed 10 GWAS-genotyped SNPs in the IL12RB2 region (2309 SSc patients and 5161 controls). We then selected three SNPs (rs3790567, rs3790566 and rs924080) based on their significance level in the GWAS, for follow-up in an independent European cohort comprising 3344 SSc and 3848 controls. The most-associated SNP (rs3790567) was further tested in an independent cohort comprising 597 SSc patients and 1139 controls from the USA. After conditional logistic regression analysis of the GWAS data, we selected rs3790567 [PMH5 1.92 3 10 -5 odds ratio (OR) 5 1.19] as the genetic variant with the firmest independent association observed in the analyzedGWASpeak of association. After the first follow-up phase, only the association of rs3790567 was consistent (PMH5 4.84 3 10 -3OR 5 1.12). The second follow-up phase confirmed this finding (Px2 5 2.82 3 10 -4 OR 5 1.34). After performing overall pooled-analysis of all the cohorts included in the present study, the association found for the rs3790567 SNP in the IL12RB2 gene region reached GWAS-level significant association (PMH5 2.82 3 10 -9 OR 5 1.17). Our data clearly support the IL12RB2 genetic association with SSc, and suggest a relevant role of the interleukin 12 signaling pathway in SSc pathogenesis. Â© The Author 2011. Published by Oxford University Press. All rights reserved.
Published: 2012

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