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2. Erratum: Comparative study of obstetric antiphospholipid syndrome (OAPS) and non-criteria obstetric APS (NC-OAPS): Report of 1640 cases from EUROAPS registry (Rheumatology (2020) 59 (1306-1314) DOI: 10.1093/rheumatology/kez419)

Author

Alijotas-Reig J., Esteve-Valverde E., Ferrer-Oliveras R., Saez-Comet L., Lefkou E., Mekinian A., Belizna C., Ruffatti A., Hoxha A., Tincani A., Nalli C., Marozio L., Maina A., Espinosa G., Rios-Garces R., Cervera R., Carolis S. D., Monteleone G., Latino O., Udry S., Llurba E., Garrido-Gimenez C., Trespidi L., Gerosa M., Chighizola C. B., Rovere-Querini P., Canti V., Mayer-Pickel K., Tabacco S., Arnau A., Trape J., Ruiz-Hidalgo D., Sos L., Farran-Codina I., Alijotas-Reig, J., Esteve-Valverde, E., Ferrer-Oliveras, R., Saez-Comet, L., Lefkou, E., Mekinian, A., Belizna, C., Ruffatti, A., Hoxha, A., Tincani, A., Nalli, C., Marozio, L., Maina, A., Espinosa, G., Rios-Garces, R., Cervera, R., Carolis, S. D., Monteleone, G., Latino, O., Udry, S., Llurba, E., Garrido-Gimenez, C., Trespidi, L., Gerosa, M., Chighizola, C. B., Rovere-Querini, P., Canti, V., Mayer-Pickel, K., Tabacco, S., Arnau, A., Trape, J., Ruiz-Hidalgo, D., Sos, L., and Farran-Codina, I.

Abstract

In the original article, the affiliation of co-author Cecilia Beatrice Chighizola should have read: “Experimental Laboratory of Immunological and Rheumatologic Researches, Istituto Auxologico Italiano, IRCCS, Cusano Milanino, Milan, Italy”. These details have been corrected only in this corrigendum to preserve the published version of record.

Published
2021

3. Comparative study of obstetric antiphospholipid syndrome (OAPS) and non-criteria obstetric APS (NC-OAPS): report of 1640 cases from the EUROAPS registry

Author

Alijotas-Reig, J., Esteve-Valverde, E., Ferrer-Oliveras, R., Saez-Comet, L., Lefkou, E., Mekinian, A., Belizna, C., Ruffatti, A., Hoxha, A., Tincani, A., Nalli, C., Marozio, L., Maina, A., Espinosa, G., Rios-Garces, R., Cervera, R., Carolis, S. D., Monteleone, G., Latino, O., Udry, S., Llurba, E., Garrido-Gimenez, C., Trespidi, L., Gerosa, M., Chighizola, C. B., Rovere-Querini, P., Canti, V., Mayer-Pickel, K., Tabacco, S., Arnau, A., Trape, J., Ruiz-Hidalgo, D., Sos, L., and Farran-Codina, I.

Subjects
Adult, medicine.medical_specialty, medicine.drug_class, antiphospholipid, antiphospholipid antibodies, antiphospholipid syndrome, non-criteria antiphospholipid syndrome, obstetric antiphospholipid syndrome, outcomes, treatment, Antibodies, Antiphospholipid, Antiphospholipid Syndrome, Aspirin, Female, Humans, Live Birth, Pregnancy, Pregnancy Complications, Pregnancy Outcome, Prospective Studies, Registries, Retrospective Studies, Treatment Outcome, Low molecular weight heparin, Antibodies, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Antiphospholipid syndrome, medicine, Pharmacology (medical), 030212 general & internal medicine, Prospective cohort study, 030203 arthritis & rheumatology, Obstetrics, business.industry, Retrospective cohort study, medicine.disease, Anti-thyroid autoantibodies, Clinical trial, Settore MED/40 - GINECOLOGIA E OSTETRICIA, Live birth, business
Abstract

Objectives To compare clinical features, laboratory data and fetal-maternal outcomes between 1000 women with obstetric APS (OAPS) and 640 with aPL-related obstetric complications not fulfilling Sydney criteria (non-criteria OAPS, NC-OAPS). Methods This was a retrospective and prospective multicentre study from the European Registry on Obstetric Antiphospholipid Syndrome. Results A total of 1650 women with 5251 episodes, 3601 of which were historical and 1650 latest episodes, were included. Altogether, 1000 cases (OAPS group) fulfilled the Sydney classification criteria and 650 (NC-OAPS group) did not. Ten NC-OAPS cases were excluded for presenting thrombosis during follow-up. All cases were classified as category I (triple positivity or double positivity for aPL) or category II (simple positivity). Overall, aPL laboratory categories showed significant differences: 29.20% in OAPS vs 17.96% in NC-OAPS (P < 0.0001) for category I, and 70.8% in OAPS vs 82% in NC-OAPS (P < 0.0001) for category II. Significant differences were observed when current obstetric complications were compared (P < 0.001). However, major differences between groups were not observed in treatment rates, livebirths and thrombotic complications. In the NC-OAPS group, 176/640 (27.5%) did not fulfil Sydney clinical criteria (subgroup A), 175/640 (27.34%) had a low titre and/or non-persistent aPL positivity but did meet the clinical criteria (subgroup B) and 289/640 (45.15%) had a high aPL titre but did not fulfil Sydney clinical criteria (subgroup C). Conclusion Significant clinical and laboratory differences were found between groups. Fetal-maternal outcomes were similar in both groups when treated. These results suggest that we could improve our clinical practice with better understanding of NC-OAPS patients.

Published
2019
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4. Colaboradores

Author

Almeida Toledano, L., Amat Tardiu, L., Arráez Brito, M., Ausín Ulízar, J., Boguñá Ponsa, J.M., Boillos Calvo, M.J., Borrás Verdera, M., Bretón Hernández, P., Burgos San Cristóbal, J., Cabré Gili, S., Cahuana Bartra, A., Cahuana Bartra, M., Capdevila Vilaró, B., Cararach i Ramoneda, V., Carazo Hernández, B., Carreras, N., Cecilio Irazola, A., Contreras Vergara, A., Crovetto, F., de Diego Burillo, R., de Haro Jorge, I., Espinosa, A., Esteve Matanza, C., Fabre González, E., Ferrer Aguilar, P., Ferrero Martínez, S., García Gómez, M.A., García-Calderón, S., García-Penche Santillán, I., Glickman, A., Gómez del Rincón, O., Gómez Diago, L., Gómez Roig, M.D., Goncé, A., González Bosquet, E., González de Agüero Laborda, R., González Núñez, S., Gratacós Solsona, E., Grau Company, L., Guirado Manchón, L., Hawkins Villareal, A., Hernández Aguado, S., Ibáñez Burillo, P., Illa Armengol, M., Iriondo Sanz, M., Jiménez Martínez, D., Krauel Giménez-Salinas, L., Laílla Vicens, J.M., Lázaro Alcay, J.J., Lejárcegui Fort, J.A., Lerma Puertas, D., López López, C., Lou Mercadé, A.C., Marimón García, E., Martín Ancel, A., Martínez, J.M., Martínez Franco, E., Martínez Zamora, M.A., Mateo Alcalá, P., Mazarico Gallego, E., Melchor Marcos, J.C., Miñano Masip, J., Morán, M.Á., Moreno Espinosa, A., Mulá Rosías, J.A., Orós Espinosa, D., Orós López, D., Parra Hernández, J., Pascal Capdevila, R., Pellicer Soria, A.M., Pérez Hiraldo, P., Prat Olivé, N., Puerto Navarro, B., Raventós Tato, R., Rodríguez Hernández, J.M., Rodríguez Morante, D., Romero Cardiel, M., Ruiz Martínez, S., Ruoti Cosp, M., Sabrià Bach, J., Sáez Comet, L., Salvador Alarcón, C., Savirón Cornudella, R., Serra-Delgado, M., Sobreviela Laserrada, M., Sola Ruiz, M.E., Solé Bertran, C., Vela Martínez, A., Vigil de Gracia, P., and Zarzoso Giménez, M.

Published
2024
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6. Comparative study of obstetric antiphospholipid syndrome (OAPS) and non-criteria obstetric APS (NC-OAPS): report of 1640 cases from EUROAPS registry (vol 59, pg 1306, 2020)

Author

Alijotas-Reig, J, Esteve-Valverde, E, Ferrer-Oliveras, R, Saez-Comet, L, Lefkou, E, Mekinian, A, Belizna, C, Ruffatti, A, Hoxha, A, Tincani, A, Nalli, C, Marozio, L, Maina, A, Espinosa, G, Rios-Garces, R, Cervera, R, De Carolis, S, Monteleone, G, Latino, O, Udry, S, Llurba, E, Garrido-Gimenez, C, Trespidi, L, Gerosa, M, Chighizola, CB, Rovere-Querini, P, Canti, V, Mayer-Pickel, K, Tabacco, S, Arnau, A, Trape, J, Ruiz-Hidalgo, D, Sos, L, and Farran-Codina, I

Published
2021

7. Bleeding and antithrombotic therapy during pregnancy in women with poor aPL-related obstetric outcomes: A survey of 1075 cases from EUROAPS registry∗

Author

Alijotas-Reig, J., Esteve-Valverde, E., Ferrer-Oliveras, R., Saez-Comet, L., Lefkou, E., Mekinian, A., Belizna, C., Ruffatti, A., Tincani, A., Pardos-Gea, J., Nalli, C., Marozio, L., Espinosa, G., De Carolis, S., Latino, O., Sebastian, U., LLurba, E., Trespidi, L., Chighizola, C., Pengo, V., Rovere-Querini, P., Canti, V., Mayer-Pickel, K., Reshetnyak, T., Tabacco, S., Arnau, A., De Carolis S. (ORCID:0000-0002-5160-7609), Alijotas-Reig, J., Esteve-Valverde, E., Ferrer-Oliveras, R., Saez-Comet, L., Lefkou, E., Mekinian, A., Belizna, C., Ruffatti, A., Tincani, A., Pardos-Gea, J., Nalli, C., Marozio, L., Espinosa, G., De Carolis, S., Latino, O., Sebastian, U., LLurba, E., Trespidi, L., Chighizola, C., Pengo, V., Rovere-Querini, P., Canti, V., Mayer-Pickel, K., Reshetnyak, T., Tabacco, S., Arnau, A., and De Carolis S. (ORCID:0000-0002-5160-7609)

Abstract

BACKGROUND: The combination of low-dose aspirin (LDA) and low-molecular-weight heparin (LMWH) until the end of gestation are the currently the accepted standard of care for the treatment of antiphospholipid-related obstetric disorders. In refractory cases, hydroxychloroquine (HCQ) can be added to this standard of care. OBJECTIVE: To evaluate the haemostatic safety of LDA and LMWH (medium to high prophylactic doses) during pregnancy and the puerperium in women with both full-blown obstetric antiphospholipid syndrome (OAPS) (Sydney criteria) and noncriteria - incomplete - OAPS. STUDY DESIGN: Retrospective/prospective multicentre observational study. Obstetric background, laboratory categories, delivery mode, antithrombotic regimens and bleeding complications were compared. SETTING: A total of 30 tertiary European hospitals. PATIENTS: Mainly, Caucasian/Arian pregnant women were included. Other ethnicities were minimally present. Women were controlled throughout pregnancy and puerperium. MAIN OUTCOME MEASURES: The primary end-point was to evaluate the number of major and minor haemorrhagic complications in this cohort of women. Neuraxial anaesthetic bleeding complications were particularly assessed. Secondly, we aimed to compare local/general bleeding events between groups. RESULTS: We studied 1650 women, of whom 1000 fulfilled the Sydney criteria of the OAPS and 650 did not (noncriteria OAPS). Data on antithrombotic-related complications were available in 1075 cases (65.15%). Overall, 53 (4.93%) women had bleeding complications, with 34 being considered minor (3.16%) and 19 major (1.76%). Neither obstetric complications nor laboratory categories were bleeding-related. Assisted vaginal delivery and caesarean section were related to local haemorrhage. Heparin doses and platelet count were not associated with major bleeding. CONCLUSIONS: LDA and medium to high prophylactic LMWH during pregnancy in women with full-blown OAPS/noncriteria OAPS are safe. A slight increase in

Published
2021

8. Comparative study of obstetric antiphospholipid syndrome (OAPS) and non-criteria obstetric APS (NC-OAPS): report of 1640 cases from the EUROAPS registry

Author

Alijotas-Reig, J, Esteve-Valverde, E, Ferrer-Oliveras, R, Saez-Comet, L, Lefkou, E, Mekinian, A, Belizna, C, Ruffatti, A, Hoxha, A, Tincani, A, Nalli, C, Marozio, L, Maina, A, Espinosa, G, Rios-Garces, R, Cervera, R, De Carolis, S, Monteleone, G, Latino, O, Udry, S, Llurba, E, Garrido-Gimenez, C, Trespidi, L, Gerosa, M, Chighizola, CB, Rovere-Querini, P, Canti, V, Mayer-Pickel, K, Tabacco, S, Arnau, A, Trape, J, Ruiz-Hidalgo, D, Sos, L, Farran-Codina, I, and EUROAPS Study Grp

Subjects
antiphospholipid, treatment, antiphospholipid antibodies, non-criteria antiphospholipid syndrome, obstetric antiphospholipid syndrome, outcomes, antiphospholipid syndrome
Abstract

Objectives. To compare clinical features, laboratory data and fetal-maternal outcomes between 1000 women with obstetric APS (OAPS) and 640 with aPL-related obstetric complications not fulfilling Sydney criteria (non-criteria OAPS, NC-OAPS). Methods. This was a retrospective and prospective multicentre study from the European Registry on Obstetric Antiphospholipid Syndrome. Results. A total of 1650 women with 5251 episodes, 3601 of which were historical and 1650 latest episodes, were included. Altogether, 1000 cases (OAPS group) fulfilled the Sydney classification criteria and 650 (NC-OAPS group) did not. Ten NC-OAPS cases were excluded for presenting thrombosis during follow-up. All cases were classified as category I (triple positivity or double positivity for aPL) or category II (simple positivity). Overall, aPL laboratory categories showed significant differences: 29.20% in OAPS vs 17.96% in NC-OAPS (P < 0.0001) for category I, and 70.8% in OAPS vs 82% in NC-OAPS (P < 0.0001) for category II. Significant differences were observed when current obstetric complications were compared (P < 0.001). However, major differences between groups were not observed in treatment rates, livebirths and thrombotic complications. In the NC-OAPS group, 176/640 (27.5%) did not fulfil Sydney clinical criteria (subgroup A), 175/640 (27.34%) had a low titre and/or non-persistent aPL positivity but did meet the clinical criteria (subgroup B) and 289/640 (45.15%) had a high aPL titre but did not fulfil Sydney clinical criteria (subgroup C). Conclusion. Significant clinical and laboratory differences were found between groups. Fetal-maternal outcomes were similar in both groups when treated. These results suggest that we could improve our clinical practice with better understanding of NC-OAPS patients.

Published
2020

9. The European Registry on Obstetric Antiphospholipid Syndrome (EUROAPS): A survey of 1000 consecutive cases

Author

Alijotas-Reig, J, Esteve-Valverde, E, Ferrer-Oliveras, R, Lefkou, E, Belizna, C, Ruffatti, A, Tincani, A, Marozio, L, Espinosa, G, Rios-Garces, R, De Carolis, S, Latino, O, Llurba, E, Chighizola, CB, Rovere-Querini, P, Canti, V, Reshetnyak, T, Tabacco, S, Stojanovich, L, Gogou, V, Varoudis, A, Arnau, A, Ruiz-Hidalgo, D, Trape, J, Marti-Canamares, A, Bertero, MT, Kuzenko, A, Coloma, E, Meroni, PL, Ruano, A, del Ross, T, Melnychuk, T, Pengo, V, Gerosa, M, Fredi, M, Lundelin, K, Picardo, E, Cervera, R, Mekinian, A, Toth, B, Saez-Comet, L, Bremme, K, Mayer-Pickel, K, Gil-Aguado, A, Sos, L, Stoppani, C, Hoxha, A, and Farran-Codina, I

Subjects
Antiphospholipid antibody, Registry, Obstetric antiphospholipid syndrome, Pregnancy autoimmune disorders, Antiphospholipid syndrome
Abstract

Aim: To analyse the clinical features, laboratory data and foetal-maternal outcomes, and follow them up on a cohort of 1000 women with obstetric antiphospholipid syndrome (OAPS). Methods: The European Registry of OAPS became a registry within the framework of the European Forum on Antiphospholipid Antibody projects and was placed on a website in June 2010. Thirty hospitals throughout Europe have collaborated to carry out this registry. Cases with obstetric complaints related to antiphospholipid antibodies (aPL) who tested positive for aPL at least twice were included prospectively and retrospectively. The seven-year survey results are reported. Results: 1000 women with 3553 episodes were included of which 2553 were historical and 1000 were latest episodes. All cases fulfilled the Sydney classification criteria. According to the laboratory categories, 292 (29.2%) were in category I, 357 (35.7%) in Era, 224 (22.4%) in IIb and 127 (12.7%) in IIc. Miscarriages were the most prevalent clinical manifestation in 386 cases (38.6%). Moreover, the presence of early preeclampsia (PE) and early foetal growth restriction (FGR) appeared in 181 (18.1%) and 161 (16.1%), respectively. In this series, 448 (44.8%) women received the recommended OAPS treatment. Patients with recommended treatment had a good live-birth rate (85%), but worse results (72.4%) were obtained in patients with any treatment (low-dose aspirin (LDA) or low-molecular-weight heparin (LMWH) not on recommended schedule, while patients with no treatment showed a poor birth rate (49.6%). Conclusion: In this series, recurrent miscarriage is the most frequent poor outcome. To avoid false-negative diagnoses, all laboratory category subsets were needed. OAPS cases have very good foetal-maternal outcomes when treated. Results suggest that we were able to improve our clinical practice to offer better treatment and outcomes to OAPS patients.

Published
2019

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

Author

Vicente E., Mumbach M.R., Granja J., Beretta L., Simeon 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., Rios R., Callejas J.L., Vargas-Hitos J.A., Garcia-Portales R., Camps M.T., Fernandez-Nebro A., Gonzalez-Escribano M.F., Garcia-Hernandez F.J., Castillo M.J., Aguirre M.A., Gomez-Gracia I., Fernandez-Gutierrez B., Rodriguez-Rodriguez L., Garcia de la Pena P., Andreu J.L., Fernandez de Castro M., Lopez-Longo F.J., Martinez L., Fonollosa, Guillen A., Espinosa G., Tolosa C., Pros A., Rodriguez-Carballeira M., Narvaez F.J., Rubio-Rivas M., Ortiz-Santamaria, Madronero A.B., Gonzalez-Gay M.A., Diaz B., Trapiella L., Sousa A., Egurbide M.V., Fanlo-Mateo P., Saez-Comet L., Diaz F., Hernandez, Beltran E., Roman-Ivorra J.A., Grau E., Alegre-Sancho J.J., Freire M., Blanco-Garcia F.J., Oreiro N., Witte T., Kreuter A., Riemekasten G., Airo 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., Lopez-Isac E., Acosta-Herrera M., Kerick M., Assassi S., Satpathy A.T., Vicente E., Mumbach M.R., Granja J., Beretta L., Simeon 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., Rios R., Callejas J.L., Vargas-Hitos J.A., Garcia-Portales R., Camps M.T., Fernandez-Nebro A., Gonzalez-Escribano M.F., Garcia-Hernandez F.J., Castillo M.J., Aguirre M.A., Gomez-Gracia I., Fernandez-Gutierrez B., Rodriguez-Rodriguez L., Garcia de la Pena P., Andreu J.L., Fernandez de Castro M., Lopez-Longo F.J., Martinez L., Fonollosa, Guillen A., Espinosa G., Tolosa C., Pros A., Rodriguez-Carballeira M., Narvaez F.J., Rubio-Rivas M., Ortiz-Santamaria, Madronero A.B., Gonzalez-Gay M.A., Diaz B., Trapiella L., Sousa A., Egurbide M.V., Fanlo-Mateo P., Saez-Comet L., Diaz F., Hernandez, Beltran E., Roman-Ivorra J.A., Grau E., Alegre-Sancho J.J., Freire M., Blanco-Garcia F.J., Oreiro N., Witte T., Kreuter A., Riemekasten G., Airo 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., Lopez-Isac E., Acosta-Herrera M., Kerick M., Assassi S., and Satpathy A.T.

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.Copyright © 2019, The Author(s).

Published
2019

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

Author

Lopez-Isac, Elena, Acosta-Herrera, Marialbert, Kerick, Martin, Assassi, Shervin, Satpathy, Ansuman T., Granja, Jeffrey, Mumbach, Maxwell R., Beretta, Lorenzo, Simeon, Carmen P., Carreira, Patricia, Ortego-Centeno, Norberto, Castellvi, Ivan, Bossini-Castillo, Lara, David Carmona, F., Orozco, Gisela, Hunzelmann, Nicolas, Distler, Joerg H. W., Franke, Andre, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, de Vries-Bouwstra, Jeska, Wijmenga, Cisca, Koeleman, Bobby P. C., Nordin, Annika, Padyukov, Leonid, Hoffmann-Vold, Anna-Maria, Lie, Benedicte, Rios, R., Callejas, J. L., Vargas-Hitos, J. A., Garcia-Portales, R., Camps, M. T., Fernandez-Nebro, A., Gonzalez-Escribano, M. F., Garcia-Hernandez, F. J., Castillo, M. J., Aguirre, M. A., Gomez-Gracia, I., Fernandez-Gutierrez, B., Rodriguez-Rodriguez, L., Garcia de la Pena, P., Vicente, E., Andreu, J. L., Fernandez de Castro, M., Lopez-Longo, F. J., Martinez, L., Fonollosa, V, Guillen, A., Espinosa, G., Tolosa, C., Pros, A., Rodriguez-Carballeira, M., Narvaez, F. J., Rubio-Rivas, M., Ortiz-Santamaria, V, Madronero, A. B., Gonzalez-Gay, M. A., Diaz, B., Trapiella, L., Sousa, A., Egurbide, M. V., Fanlo-Mateo, P., Saez-Comet, L., Diaz, F., Hernandez, V, Beltran, E., Roman-Ivorra, J. A., Grau, E., Alegre-Sancho, J. J., Freire, M., Blanco-Garcia, F. J., Oreiro, N., Witte, T., Kreuter, A., Riemekasten, G., Airo, P., Magro, C., Voskuyl, A. E., Vonk, M. C., Hesselstrand, R., Proudman, Susanna, Stevens, Wendy, Nikpour, Mandana, Zochling, J., Sahhar, J., Roddy, J., Nash, P., Tymms, K., Rischmueller, M., Lester, S., Vyse, Timothy, Herrick, Ariane L., Worthington, Jane, Denton, Christopher P., Allanore, Yannick, Brown, Matthew A., Radstake, Timothy R. D. J., Fonseca, Carmen, Chang, Howard Y., Mayes, Maureen D., Martin, Javier, Lopez-Isac, Elena, Acosta-Herrera, Marialbert, Kerick, Martin, Assassi, Shervin, Satpathy, Ansuman T., Granja, Jeffrey, Mumbach, Maxwell R., Beretta, Lorenzo, Simeon, Carmen P., Carreira, Patricia, Ortego-Centeno, Norberto, Castellvi, Ivan, Bossini-Castillo, Lara, David Carmona, F., Orozco, Gisela, Hunzelmann, Nicolas, Distler, Joerg H. W., Franke, Andre, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, de Vries-Bouwstra, Jeska, Wijmenga, Cisca, Koeleman, Bobby P. C., Nordin, Annika, Padyukov, Leonid, Hoffmann-Vold, Anna-Maria, Lie, Benedicte, Rios, R., Callejas, J. L., Vargas-Hitos, J. A., Garcia-Portales, R., Camps, M. T., Fernandez-Nebro, A., Gonzalez-Escribano, M. F., Garcia-Hernandez, F. J., Castillo, M. J., Aguirre, M. A., Gomez-Gracia, I., Fernandez-Gutierrez, B., Rodriguez-Rodriguez, L., Garcia de la Pena, P., Vicente, E., Andreu, J. L., Fernandez de Castro, M., Lopez-Longo, F. J., Martinez, L., Fonollosa, V, Guillen, A., Espinosa, G., Tolosa, C., Pros, A., Rodriguez-Carballeira, M., Narvaez, F. J., Rubio-Rivas, M., Ortiz-Santamaria, V, Madronero, A. B., Gonzalez-Gay, M. A., Diaz, B., Trapiella, L., Sousa, A., Egurbide, M. V., Fanlo-Mateo, P., Saez-Comet, L., Diaz, F., Hernandez, V, Beltran, E., Roman-Ivorra, J. A., Grau, E., Alegre-Sancho, J. J., Freire, M., Blanco-Garcia, F. J., Oreiro, N., Witte, T., Kreuter, A., Riemekasten, G., Airo, P., Magro, C., Voskuyl, A. E., Vonk, M. C., Hesselstrand, R., Proudman, Susanna, Stevens, Wendy, Nikpour, Mandana, Zochling, J., Sahhar, J., Roddy, J., Nash, P., Tymms, K., Rischmueller, M., Lester, S., Vyse, Timothy, Herrick, Ariane L., Worthington, Jane, Denton, Christopher P., Allanore, Yannick, Brown, Matthew A., Radstake, Timothy R. D. J., Fonseca, Carmen, Chang, Howard Y., Mayes, Maureen D., and Martin, Javier

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.

Published
2019

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

Author

Lopez-Isac, E, Acosta-Herrera, M, Kerick, M, Assassi, S, Satpathy, AT, Granja, J, Mumbach, MR, Beretta, L, Simeon, CP, Carreira, P, Ortego-Centeno, N, Castellvi, I, Bossini-Castillo, L, David Carmona, F, Orozco, G, Hunzelmann, N, Distler, JHW, Franke, A, Lunardi, C, Moroncini, G, Gabrielli, A, de Vries-Bouwstra, J, Wijmenga, C, Koeleman, BPC, Nordin, A, Padyukov, L, Hoffmann-Vold, A-M, Lie, B, Rios, R, Callejas, JL, Vargas-Hitos, JA, Garcia-Portales, R, Camps, MT, Fernandez-Nebro, A, Gonzalez-Escribano, MF, Garcia-Hernandez, FJ, Castillo, MJ, Aguirre, MA, Gomez-Gracia, I, Fernandez-Gutierrez, B, Rodriguez-Rodriguez, L, Garcia de la Pena, P, Vicente, E, Andreu, JL, Fernandez de Castro, M, Lopez-Longo, FJ, Martinez, L, Fonollosa, V, Guillen, A, Espinosa, G, Tolosa, C, Pros, A, Rodriguez-Carballeira, M, Narvaez, FJ, Rubio-Rivas, M, Ortiz-Santamaria, V, Madronero, AB, Gonzalez-Gay, MA, Diaz, B, Trapiella, L, Sousa, A, Egurbide, MV, Fanlo-Mateo, P, Saez-Comet, L, Diaz, F, Hernandez, V, Beltran, E, Roman-Ivorra, JA, Grau, E, Alegre-Sancho, JJ, Freire, M, Blanco-Garcia, FJ, Oreiro, N, Witte, T, Kreuter, A, Riemekasten, G, Airo, P, Magro, C, Voskuyl, AE, Vonk, MC, 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, AL, Worthington, J, Denton, CP, Allanore, Y, Brown, MA, Radstake, TRDJ, Fonseca, C, Chang, HY, Mayes, MD, Martin, J, Lopez-Isac, E, Acosta-Herrera, M, Kerick, M, Assassi, S, Satpathy, AT, Granja, J, Mumbach, MR, Beretta, L, Simeon, CP, Carreira, P, Ortego-Centeno, N, Castellvi, I, Bossini-Castillo, L, David Carmona, F, Orozco, G, Hunzelmann, N, Distler, JHW, Franke, A, Lunardi, C, Moroncini, G, Gabrielli, A, de Vries-Bouwstra, J, Wijmenga, C, Koeleman, BPC, Nordin, A, Padyukov, L, Hoffmann-Vold, A-M, Lie, B, Rios, R, Callejas, JL, Vargas-Hitos, JA, Garcia-Portales, R, Camps, MT, Fernandez-Nebro, A, Gonzalez-Escribano, MF, Garcia-Hernandez, FJ, Castillo, MJ, Aguirre, MA, Gomez-Gracia, I, Fernandez-Gutierrez, B, Rodriguez-Rodriguez, L, Garcia de la Pena, P, Vicente, E, Andreu, JL, Fernandez de Castro, M, Lopez-Longo, FJ, Martinez, L, Fonollosa, V, Guillen, A, Espinosa, G, Tolosa, C, Pros, A, Rodriguez-Carballeira, M, Narvaez, FJ, Rubio-Rivas, M, Ortiz-Santamaria, V, Madronero, AB, Gonzalez-Gay, MA, Diaz, B, Trapiella, L, Sousa, A, Egurbide, MV, Fanlo-Mateo, P, Saez-Comet, L, Diaz, F, Hernandez, V, Beltran, E, Roman-Ivorra, JA, Grau, E, Alegre-Sancho, JJ, Freire, M, Blanco-Garcia, FJ, Oreiro, N, Witte, T, Kreuter, A, Riemekasten, G, Airo, P, Magro, C, Voskuyl, AE, Vonk, MC, 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, AL, Worthington, J, Denton, CP, Allanore, Y, Brown, MA, Radstake, TRDJ, Fonseca, C, Chang, HY, Mayes, MD, and Martin, J

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.

Published
2019

13. First clinical symptom as a prognostic factor in systemic sclerosis: results of a retrospective nationwide cohort study (vol 37, pg 999, 2018)

Author

Rubio-Rivas, M, Corbella, X, Pestana-Fernandez, M, Tolosa-Vilella, C, Guillen-del Castillo, A, Colunga-Arguelles, D, Trapiella-Martinez, L, Iniesta-Arandia, N, Castillo-Palma, MJ, Saez-Comet, L, Egurbide-Arberas, MV, Ortego-Centeno, N, Freire, M, Vargas-Hitos, JA, Rios-Blanco, JJ, Todoli-Parra, JA, Rodriguez-Carballeira, M, Marin-Ballve, A, Segovia-Alonso, P, Pla-Salas, X, Madronero-Vuelta, AB, Ruiz-Munoz, M, Fonollosa-Pla, V, Simeon-Aznar, CP, and RESCLE Investigators

Abstract

When first published, this article inadvertently listed the RESCLE investigators individually within the author list. The names should instead have been listed within the Acknowledgements section only. The corrected author list and the updated Acknowledgements section are presented in this Correction.

Published
2018

14. Hepatobiliary involvement in systemic sclerosis and the cutaneous subsets: Characteristics and survival of patients from the Spanish RESCLE Registry

Author

Mari-Alfonso, B, Pilar Simeon-Aznar, Carmen, Guillen-Del Castillo, A, Rubio-Rivas, M, Trapiella-Martinez, L, Antonio Todoli-Parra, Jose, Rodriguez Carballeira, Monica, Marin-Ballve, A, Iniesta-Arandia, N, Colunga-Arguelles, D, Jesus Castillo-Palma, Maria, Saez-Comet, L, Victoria Egurbide-Arberas, Maria, Ortego-Centeno, N, Freire, M, Vargas Hitos, Jose Antonio, Chamorro, AJ, Belen Madronero-Vuelta, Ana, Perales-Fraile, I, Pla-Salas, X, Fernandez-De-La-Puebla, RA, Fonollosa-Pla, V, Tolosa-Vilella, C, RESCLE Investigators, and Systemic Autoimmune Dis Study Grp

Subjects
integumentary system, Hepatobiliary involvement, Survival, parasitic diseases, Primary biliary cholangitis, Systemic sclerosis, SSc sine scleroderma, skin and connective tissue diseases, Autoimmune hepatitis
Abstract

Objective: To assess the prevalence and causes of hepatobiliary involvement (HBI) in systemic sclerosis (SSc), to investigate the clinical characteristics and prognosis of SSc patients with HBI (SSc-HBI) and without HBI (SSc-non-HBI), and to compare both groups according to the cutaneous SSc subsets. Methods: In all, 1572 SSc patients were collected in the RESCLE registry up to January 2015, and all hepatobiliary disturbances were recorded. We investigated the HBI-related characteristics and survival from the entire SSc cohort and according to the following cutaneous subsets: diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc), and SSc sine scleroderma (ssSSc). Results: Out of 1572, 118 (7.5%) patients had HBI. Primary biliary cholangitis (PBC) was largely the main cause (n = 67, 4.3%), followed by autoimmune hepatitis (n = 19, 1.2%), and anti-mitochondrial negative PBC (n = 6, 0.4%). Other causes of HBI were as follows: secondary liver diseases (n = 11, 0.7%), SSc-related HBI (n = 7, 0.4%), nodular regenerative hyperplasia (n = 3, 0.2%), liver cirrhosis (n = 3, 0.2%), and HBI of unknown origin (n = 2, 0.1%). In multivariate analysis, HBI was independently associated to lesser risk of dcSSc (5.1% vs. 24.4%), and higher frequency of calcinosis (26% vs. 18%), left ventricular diastolic dysfunction (46% vs. 27%), sicca syndrome (51% vs. 29%), and anti-centromere antibodies (ACA, 73% vs. 44%). According to the cutaneous subsets, HBI was associated (1) in lcSSc, to longer time from SSc onset to diagnosis (10.8 +/- 12.5 vs. 7.2 +/- 9.3 years), sicca syndrome (54% vs. 33%), and ACA (80% vs. 56%); (2) in ssSSc, to sicca syndrome (44% vs. 19%), and (3) in dcSSc, no associations were found. HBI was the cause of death in 23% patients but the cumulative survival according to the presence or absence of HBI showed no differences. Conclusions: HBI prevalence in SSc is 7.5% and dcSSc is the least involved subset. PBC is the main cause of HBI. Patients with SSc-HBI exhibited specific clinical and immunologic profile. Survival is similar for SSc patients with HBI (C). 2017 Elsevier Inc. All rights reserved.

Published
2018

15. AB0451 Rivaroxaban versus warfarin as secondary thromboprophylaxis in patients with antiphospholipid syndrome protocol: a randomized, multicentre, open-label, clinical trial

Author

Cortés-Hernández, J, primary, Saez-Comet, L, additional, Perez-Conesa, M, additional, Mestre, A Riera, additional, Castro-Salomo, A, additional, Parra, S, additional, Cuquet-Pedragosa, J, additional, Ortiz-Santamaria, V, additional, Mauri-Plana, M, additional, Suñe, P, additional, and Ordi-Ros, J, additional

Published
2017
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17. Registry of the Spanish Network for Systemic Sclerosis Survival, Prognostic Factors, and Causes of Death

Author

Simeon-Aznar, CP, Fonollosa-Pla, V, Tolosa-Vilella, C, Espinosa-Garriga, G, Campillo-Grau, M, Ramos-Casals, M, Garcia-Hernandez, FJ, Castillo-Palma, MJ, Sanchez-Roman, J, Callejas-Rubio, JL, Ortego-Centeno, N, Egurbide-Arberas, MV, Trapiellla-Martinez, L, Caminal-Montero, L, Saez-Comet, L, Velilla-Marco, J, Camps-Garcia, MT, de Ramon-Garrido, E, Esteban-Marcos, EM, Pallares-Ferreres, L, Navarrete-Navarrete, N, Vargas-Hitos, JA, de la Torre, RG, Salvador-Cervello, G, Rios-Blanco, JJ, Vilardell-Tarres, M, and Spanish Soc Internal Med SEMI

Abstract

Systemic sclerosis (SSc) is a rare, multisystem disease showing a large individual variability in disease progression and prognosis. In the present study, we assess survival, causes of death, and risk factors of mortality in a large series of Spanish SSc patients. Consecutive SSc patients fulfilling criteria of the classification by LeRoy were recruited in the survey. Kaplan-Meier and Cox proportional-hazards models were used to analyze survival and to identify predictors of mortality. Among 879 consecutive patients, 138 (15.7%) deaths were registered. Seventy-six out of 138 (55%) deceased patients were due to causes attributed to SSc, and pulmonary hypertension (PH) was the leading cause in 23 (16.6%) patients. Survival rates were 96%, 93%, 83%, and 73% at 5, 10, 20, and 30 years after the first symptom, respectively. Survival rates for diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc were 91%, 86%, 64%, and 39%; and 97%, 95%, 85%, and 81% at 5, 10, 20, and 30 years, respectively (log-rank: 67.63, P

Published
2015

19. 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
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20. FRI0463 Survival and Mortality Analysis in a Large Cohort of Spanish Patients with Anti-JO1 Antisynthetase Syndrome from the Geas-IIM Group

Author

Trallero-Araguás, E., primary, Grau-JUnyent, J.M., additional, Monteagudo, M., additional, Garcia-Hernandez, F., additional, Fraile-Rodriguez, G., additional, Les-Bujan, I., additional, Saez-Comet, L., additional, Rodriguez-Carballeira, M., additional, Rios-Fernandez, R., additional, Caminal-Montero, L., additional, Solanich-Moreno, X., additional, and Selva-O'Callaghan, A., additional

Published
2015
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21. C0541: Incidence of Thrombosis and Thrombosis Recurrence in Patients with High-Risk Anti-Phospholipid Syndrome

Author

Fernandez-Mosteirín, N., primary, Andrade Campos, M., additional, Salvador-Osuna, C., additional, Saez-Comet, L., additional, Velilla, J., additional, Salvador, N., additional, Valero, M., additional, Sanz, S., additional, Sigüenza, C., additional, Murillo-Lopes, I., additional, De Rueda, B., additional, Quintero, J., additional, Coello de Portugal, C., additional, Colorado, E., additional, Torres, M., additional, and Rubio-Felix, D., additional

Published
2014
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22. Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study

Author

Bossini-Castillo, L., Martin, J.E., Broen, J., Simeon, C.P., Beretta, L., Gorlova, O.Y., Vonk, M.C., Ortego-Centeno, N., Espinosa, G., Carreira, P., Garcia de la Pena, P., Oreiro, N., Roman-Ivorra, J.A., Castillo, M.J., Gonzalez-Gay, M.A., Saez-Comet, L., Castellvi, I., Schuerwegh, A.J., Voskuyl, A.E., Hoffmann-Vold, A.M., Hesselstrand, R., Nordin, A., Lunardi, C., Scorza, R., Laar, J.M. van, Shiels, P.G., Herrick, A., Worthington, J., Fonseca, C., Denton, C., Tan, F.K., Arnett, F.C., Assassi, S., Koeleman, B.P., Mayes, M.D., Radstake, T.R.D.J., Martin, J., et al., Bossini-Castillo, L., Martin, J.E., Broen, J., Simeon, C.P., Beretta, L., Gorlova, O.Y., Vonk, M.C., Ortego-Centeno, N., Espinosa, G., Carreira, P., Garcia de la Pena, P., Oreiro, N., Roman-Ivorra, J.A., Castillo, M.J., Gonzalez-Gay, M.A., Saez-Comet, L., Castellvi, I., Schuerwegh, A.J., Voskuyl, A.E., Hoffmann-Vold, A.M., Hesselstrand, R., Nordin, A., Lunardi, C., Scorza, R., Laar, J.M. van, Shiels, P.G., Herrick, A., Worthington, J., Fonseca, C., Denton, C., Tan, F.K., Arnett, F.C., Assassi, S., Koeleman, B.P., Mayes, M.D., Radstake, T.R.D.J., Martin, J., and et al.

Abstract

Item does not contain fulltext, INTRODUCTION: A recent genome-wide association study in European systemic sclerosis (SSc) patients identified three loci (PSORS1C1, TNIP1 and RHOB) as novel genetic risk factors for the disease. The aim of this study was to replicate the previously mentioned findings in a large multicentre independent SSc cohort of Caucasian ancestry. METHODS: 4389 SSc patients and 7611 healthy controls from different European countries and the USA were included in the study. Six single nucleotide polymorphisms (SNP): rs342070, rs13021401 (RHOB), rs2233287, rs4958881, rs3792783 (TNIP1) and rs3130573 (PSORS1C1) were analysed. Overall significance was calculated by pooled analysis of all the cohorts. Haplotype analyses and conditional logistic regression analyses were carried out to explore further the genetic structure of the tested loci. RESULTS: Pooled analyses of all the analysed SNPs in TNIP1 revealed significant association with the whole disease (rs2233287 p(MH)=1.94x10(-4), OR 1.19; rs4958881 p(MH)=3.26x10(-5), OR 1.19; rs3792783 p(MH)=2.16x10(-4), OR 1.19). These associations were maintained in all the subgroups considered. PSORS1C1 comparison showed association with the complete set of patients and all the subsets except for the anti-centromere-positive patients. However, the association was dependent on different HLA class II alleles. The variants in the RHOB gene were not associated with SSc or any of its subsets. CONCLUSIONS: These data confirmed the influence of TNIP1 on an increased susceptibility to SSc and reinforced this locus as a common autoimmunity risk factor.

Published
2013

23. The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis

Author

Carmona, F.D., Martin, J.E., Beretta, L., Simeon, C.P., Carreira, P.E., Callejas, J.L., Fernandez-Castro, M., Saez-Comet, L., Beltran, E., Camps, M.T., Egurbide, M.V., Airo, P., Scorza, R., Lunardi, C., Hunzelmann, N., Riemekasten, G., Witte, T. de, Kreuter, A., Distler, J.H., Madhok, R., Shiels, P., Laar, J.M. van, Fonseca, C., Denton, C., Herrick, A., Worthington, J., Schuerwegh, A.J., Vonk, M.C., Voskuyl, A.E., Radstake, T.R.D.J., Martin, J., et al., Carmona, F.D., Martin, J.E., Beretta, L., Simeon, C.P., Carreira, P.E., Callejas, J.L., Fernandez-Castro, M., Saez-Comet, L., Beltran, E., Camps, M.T., Egurbide, M.V., Airo, P., Scorza, R., Lunardi, C., Hunzelmann, N., Riemekasten, G., Witte, T. de, Kreuter, A., Distler, J.H., Madhok, R., Shiels, P., Laar, J.M. van, Fonseca, C., Denton, C., Herrick, A., Worthington, J., Schuerwegh, A.J., Vonk, M.C., Voskuyl, A.E., Radstake, T.R.D.J., Martin, J., and et al.

Abstract

Contains fulltext : 117843.pdf (publisher's version ) (Open Access), Systemic sclerosis (SSc) is a fibrotic autoimmune disease in which the genetic component plays an important role. One of the strongest SSc association signals outside the human leukocyte antigen (HLA) region corresponds to interferon (IFN) regulatory factor 5 (IRF5), a major regulator of the type I IFN pathway. In this study we aimed to evaluate whether three different haplotypic blocks within this locus, which have been shown to alter the protein function influencing systemic lupus erythematosus (SLE) susceptibility, are involved in SSc susceptibility and clinical phenotypes. For that purpose, we genotyped one representative single-nucleotide polymorphism (SNP) of each block (rs10488631, rs2004640, and rs4728142) in a total of 3,361 SSc patients and 4,012 unaffected controls of Caucasian origin from Spain, Germany, The Netherlands, Italy and United Kingdom. A meta-analysis of the allele frequencies was performed to analyse the overall effect of these IRF5 genetic variants on SSc. Allelic combination and dependency tests were also carried out. The three SNPs showed strong associations with the global disease (rs4728142: P = 1.34x10(-8), OR = 1.22, CI 95% = 1.14-1.30; rs2004640: P = 4.60x10(-7), OR = 0.84, CI 95% = 0.78-0.90; rs10488631: P = 7.53x10(-20), OR = 1.63, CI 95% = 1.47-1.81). However, the association of rs2004640 with SSc was not independent of rs4728142 (conditioned P = 0.598). The haplotype containing the risk alleles (rs4728142*A-rs2004640*T-rs10488631*C: P = 9.04x10(-22), OR = 1.75, CI 95% = 1.56-1.97) better explained the observed association (likelihood P-value = 1.48x10(-4)), suggesting an additive effect of the three haplotypic blocks. No statistical significance was observed in the comparisons amongst SSc patients with and without the main clinical characteristics. Our data clearly indicate that the SLE risk haplotype also influences SSc predisposition, and that this association is not sub-phenotype-specific.

Published
2013

24. Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population

Author

Bossini-Castillo, L., Simeon, C.P., Beretta, L., Vonk, M.C., Callejas-Rubio, J.L., Espinosa, G., Carreira, P., Camps, M.T., Rodriguez-Rodriguez, L., Rodriguez-Carballeira, M., Garcia-Hernandez, F.J., Lopez-Longo, F.J., Hernandez-Hernandez, V., Saez-Comet, L., Egurbide, M.V., Hesselstrand, R., Nordin, A., Hoffmann-Vold, A.M., Vanthuyne, M., Smith, V., Langhe, E. De, Kreuter, A., Riemekasten, G., Witte, T.J.M. de, Hunzelmann, N., Voskuyl, A.E., Schuerwegh, A.J., Lunardi, C., Airo, P., Scorza, R., Shiels, P., Laar, J.M. van, Fonseca, C., Denton, C., Herrick, A., Worthington, J., Koeleman, B.P., Rueda, B., Radstake, T.R.D.J., Martin, J., Bossini-Castillo, L., Simeon, C.P., Beretta, L., Vonk, M.C., Callejas-Rubio, J.L., Espinosa, G., Carreira, P., Camps, M.T., Rodriguez-Rodriguez, L., Rodriguez-Carballeira, M., Garcia-Hernandez, F.J., Lopez-Longo, F.J., Hernandez-Hernandez, V., Saez-Comet, L., Egurbide, M.V., Hesselstrand, R., Nordin, A., Hoffmann-Vold, A.M., Vanthuyne, M., Smith, V., Langhe, E. De, Kreuter, A., Riemekasten, G., Witte, T.J.M. de, Hunzelmann, N., Voskuyl, A.E., Schuerwegh, A.J., Lunardi, C., Airo, P., Scorza, R., Shiels, P., Laar, J.M. van, Fonseca, C., Denton, C., Herrick, A., Worthington, J., Koeleman, B.P., Rueda, B., Radstake, T.R.D.J., and Martin, J.

Abstract

Contains fulltext : 96758.pdf (publisher's version ) (Closed access), Objectives. The aim of this study was to confirm the implication of macrophage migration inhibitory factor (MIF) gene in SSc susceptibility or clinical phenotypes in a large European population. Methods. A total of 3800 SSc patients and 4282 healthy controls of white Caucasian ancestry from eight different European countries were included in the study. The MIF -173 single nucleotide polymorphism (SNP) was selected as genetic marker and genotyped using Taqman 5' allelic discrimination assay. Results. The MIF -173 SNP showed association with SSc [P = 0.04, odds ratio (OR) = 1.10, 95% CI 1.00, 1.19]. Analysis of the MIF -173 polymorphism according to SSc clinical phenotype revealed that the frequency of the -173*C allele was significantly higher in the dcSSc group compared with controls (P = 5.30E-03, OR = 1.21, 95% CI 1.07, 1.38). Conversely, the frequency of the MIF -173*C allele was significantly underrepresented in the lcSSc group compared with dcSSc patients, supporting previous findings [(P = 0.04, OR = 0.86, 95% CI 0.75, 0.99); meta-analysis including previous results (P = 0.005, OR = 0.83, 95% CI 0.73, 0.94)]. Conclusion. Our results confirm the role of MIF -173 promoter polymorphism in SSc, and provide evidence of a strong association with the dcSSc subgroup of patients. Hence, the MIF -173 variant is confirmed as a promising clinical phenotype genetic marker.

Published
2011

25. Association of a non-synonymous functional variant of the ITGAM gene with systemic sclerosis

Author

Carmona, F.D., Simeon, C.P., Beretta, L., Carreira, P., Vonk, M.C., Rios-Fernandez, R., Espinosa, G., Navarrete, N., Vicente-Rabaneda, E., Rodriguez-Rodriguez, L., Tolosa, C., Garcia-Hernandez, F.J., Castellvi, I., Egurbide, M.V., Fonollosa, V., Gonzalez-Gay, M.A., Rodriguez-Carballeira, M., Diaz-Gonzalez, F., Saez-Comet, L., Hesselstrand, R., Riemekasten, G., Witte, T.J.M. de, Voskuyl, A.E., Schuerwegh, A.J., Madhok, R., Shiels, P., Fonseca, C., Denton, C., Nordin, A., Palm, O., Hoffmann-Vold, A.M., Airo, P., Scorza, R., Lunardi, C., Laar, J.M. van, Hunzelmann, N., Kreuter, A., Herrick, A., Worthington, J., Koeleman, B.P., Radstake, T.R.D.J., Martin, J., Carmona, F.D., Simeon, C.P., Beretta, L., Carreira, P., Vonk, M.C., Rios-Fernandez, R., Espinosa, G., Navarrete, N., Vicente-Rabaneda, E., Rodriguez-Rodriguez, L., Tolosa, C., Garcia-Hernandez, F.J., Castellvi, I., Egurbide, M.V., Fonollosa, V., Gonzalez-Gay, M.A., Rodriguez-Carballeira, M., Diaz-Gonzalez, F., Saez-Comet, L., Hesselstrand, R., Riemekasten, G., Witte, T.J.M. de, Voskuyl, A.E., Schuerwegh, A.J., Madhok, R., Shiels, P., Fonseca, C., Denton, C., Nordin, A., Palm, O., Hoffmann-Vold, A.M., Airo, P., Scorza, R., Lunardi, C., Laar, J.M. van, Hunzelmann, N., Kreuter, A., Herrick, A., Worthington, J., Koeleman, B.P., Radstake, T.R.D.J., and Martin, J.

Abstract

Contains fulltext : 97656.pdf (publisher's version ) (Closed access)

Published
2011

26. Association of a non-synonymous functional variant of the ITGAM gene with systemic sclerosis

Author

Carmona, F. D., primary, Simeon, C. P., additional, Beretta, L., additional, Carreira, P., additional, Vonk, M. C., additional, Rios-Fernandez, R., additional, Espinosa, G., additional, Navarrete, N., additional, Vicente-Rabaneda, E., additional, Rodriguez-Rodriguez, L., additional, Tolosa, C., additional, Garcia-Hernandez, F. J., additional, Castellvi, I., additional, Egurbide, M. V., additional, Fonollosa, V., additional, Gonzalez-Gay, M. A., additional, Rodriguez-Carballeira, M., additional, Diaz-Gonzalez, F., additional, Saez-Comet, L., additional, Hesselstrand, R., additional, Riemekasten, G., additional, Witte, T., additional, Voskuyl, A. E., additional, Schuerwegh, A. J., additional, Madhok, R., additional, Shiels, P., additional, Fonseca, C., additional, Denton, C., additional, Nordin, A., additional, Palm, O., additional, Hoffmann-Vold, A.-M., additional, Airo, P., additional, Scorza, R., additional, Lunardi, C., additional, van Laar, J. M., additional, Hunzelmann, N., additional, Kreuter, A., additional, Herrick, A., additional, Worthington, J., additional, Koeleman, B. P. C., additional, Radstake, T. R. D. J., additional, and Martin, J., additional

Published
2011
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29. Colaboradores

Author

Amat Tardiu, L., Ausín Ulizar, J., Boguñá Ponsa, J.M., Borrás Verdera, M., Burgos San Cristóbal, J., Cabré Gili, S., Callejo Olmos, J., Cararach i Ramoneda, V., Esteve Matanza, C., Fabre González, E., Ferrero Martínez, S., García-Penche Santillán, I., García-Posada, R., Gómez del Rincón, O., Gómez Roig, M.D., Goncé, A., González de Agüero Laborda, R., González Bosquet, E., González-Merlo, J., González Ramos, P., Gratacós Solsona, E., Herruzo Nalda, A., Iriondo Sanz, M., Jiménez, D., Krauel Giménez-Salinas, L., Krauel Vidal, X., Laílla Vicens, J.M., Lázaro Alcay, J.J., Lejárcegui Fort, J.A., Lou Mercadé, A.C., Marimón García, E., Martín Ancel, A.M., Martínez, J.M., Martínez Zamora, M.Á., Mateo Alcalá, P., Mazarico Gallego, E., Melchor Marcos, J.C., Miró Sotelo, E., Orós Espinosa, D., Orós López, D., Pérez Hiraldo, M.P., Puerto Navarro, B., Rodríguez Morante, D., Romero Cardiel, M.A., Sabría Bach, J., Sáez Comet, L., Salvador Alarcón, C., Sobreviela Laserrada, M., and Vela Martínez, A.

Published
2013
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30. Bleeding and antithrombotic therapy during pregnancy in women with poor aPL-related obstetric outcomes: A survey of 1075 cases from EUROAPS registry∗

Author

Josep Pardos-Gea, Elisa Llurba, Jaume Alijotas-Reig, Elmina Lefkou, Luca Marozio, Enrique Esteve-Valverde, Gerard Espinosa, Luis Sáez-Comet, Angela Tincani, Karoline Mayer-Pickel, Arsène Mekinian, Cecilia Nalli, Omar Latino, Tatiana Reshetnyak, Amelia Ruffatti, Sara De Carolis, Udry Sebastian, Anna Arnau, Vittorio Pengo, Cecilia Beatrice Chighizola, Cristina Belizna, Raquel Ferrer-Oliveras, Laura Trespidi, Valentina Canti, Patrizia Rovere-Querini, Sara Tabacco, Alijotas-Reig, J., Esteve-Valverde, E., Ferrer-Oliveras, R., Saez-Comet, L., Lefkou, E., Mekinian, A., Belizna, C., Ruffatti, A., Tincani, A., Pardos-Gea, J., Nalli, C., Marozio, L., Espinosa, G., De Carolis, S., Latino, O., Sebastian, U., Llurba, E., Trespidi, L., Chighizola, C., Pengo, V., Rovere-Querini, P., Canti, V., Mayer-Pickel, K., Reshetnyak, T., Tabacco, S., and Arnau, A.

Subjects
medicine.medical_specialty, medicine.medical_treatment, Hemorrhage, Cesarean Section, Female, Heparin, Low-Molecular-Weight, Humans, Pregnancy, Prospective Studies, Registries, Retrospective Studies, Fibrinolytic Agents, Pregnancy Complications, Antiphospholipid syndrome, medicine, Caesarean section, Prospective cohort study, Aspirin, Heparin, Obstetrics, business.industry, Low-Molecular-Weight, Retrospective cohort study, medicine.disease, Delivery mode, Settore MED/40 - GINECOLOGIA E OSTETRICIA, Anesthesiology and Pain Medicine, Cohort, business, medicine.drug
Abstract

BACKGROUND The combination of low-dose aspirin (LDA) and low-molecular-weight heparin (LMWH) until the end of gestation are the currently the accepted standard of care for the treatment of antiphospholipid-related obstetric disorders. In refractory cases, hydroxychloroquine (HCQ) can be added to this standard of care. OBJECTIVE To evaluate the haemostatic safety of LDA and LMWH (medium to high prophylactic doses) during pregnancy and the puerperium in women with both full-blown obstetric antiphospholipid syndrome (OAPS) (Sydney criteria) and noncriteria - incomplete - OAPS. STUDY DESIGN Retrospective/prospective multicentre observational study. Obstetric background, laboratory categories, delivery mode, antithrombotic regimens and bleeding complications were compared. SETTING A total of 30 tertiary European hospitals. PATIENTS Mainly, Caucasian/Arian pregnant women were included. Other ethnicities were minimally present. Women were controlled throughout pregnancy and puerperium. MAIN OUTCOME MEASURES The primary end-point was to evaluate the number of major and minor haemorrhagic complications in this cohort of women. Neuraxial anaesthetic bleeding complications were particularly assessed. Secondly, we aimed to compare local/general bleeding events between groups. RESULTS We studied 1650 women, of whom 1000 fulfilled the Sydney criteria of the OAPS and 650 did not (noncriteria OAPS). Data on antithrombotic-related complications were available in 1075 cases (65.15%). Overall, 53 (4.93%) women had bleeding complications, with 34 being considered minor (3.16%) and 19 major (1.76%). Neither obstetric complications nor laboratory categories were bleeding-related. Assisted vaginal delivery and caesarean section were related to local haemorrhage. Heparin doses and platelet count were not associated with major bleeding. CONCLUSIONS LDA and medium to high prophylactic LMWH during pregnancy in women with full-blown OAPS/noncriteria OAPS are safe. A slight increase in bleeding risk was noted in instrumental deliveries. No women who underwent spinal or epidural anaesthesia suffered bleeding complications. No haemorrhage was observed in cases where HCQ was added to standard therapy.

Published
2021

31. Exposure to different occupational chemicals and clinical phenotype of a cohort of patients with systemic sclerosis.

Author

Freire M, Sopeña B, González-Quintela A, Guillén Del Castillo A, Moraga EC, Lledó-Ibañez GM, Rubio-Rivas M, Trapiella L, Argibay A, Tolosa C, Alfonso BM, Vargas-Hitos JA, Salas XP, González-Echávarri C, Chamorro AJ, Fraile IP, García AG, de la Red Bellvis G, Bello DB, Salomó AC, Jiménez Pérez de Heredia I, Marín-Ballve A, Rodríguez-Pintó I, Saez-Comet L, Ortego-Centeno N, Todolí-Parra JA, Fonollosa Pla V, and Simeón-Aznar CP

Subjects
Humans, Female, Male, Middle Aged, Adult, Cohort Studies, Scleroderma, Systemic, Occupational Exposure adverse effects, Phenotype
Abstract

Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Published
2024
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32. Correspondence and comments on American College of Rheumatology and EULAR antiphospholipid syndrome classification criteria: comment on the article by Barbhaiya et al.

Author

Alijotas-Reig J, Marques-Soares J, Esteve-Valverde E, Miró-Mur F, Belizna C, Udry S, Latino O, Ferrer-Oliveras R, Mekinian A, Saez-Comet L, de Carolis S, Hoxha A, Lefkou E, Llurba E, Rovere-Querini P, Tabacco S, and Canti V

Subjects
Humans, Rheumatology standards, United States, Antiphospholipid Syndrome classification, Antiphospholipid Syndrome diagnosis
Published
2024
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33. External clinical validation of automated software to identify structural abnormalities and microhaemorrhages in nailfold videocapillaroscopy images.

Author

Gracia Tello BC, Ramos Ibañez E, Saez Comet L, Guillén Del Castillo A, Simeón Aznar CP, Selva-O'Callaghan A, Espinosa G, Lledó G, Freire Dapena M, Martinez Robles E, Ríos JJ, Todolí Parra JA, Marí Alfonso B, Ortego Centeno N, Marín Ballvé A, Callejas Rubio JL, Fonollosa Plá V, and Fanlo P

Subjects
Humans, Microscopic Angioscopy methods, Nails blood supply, Software, Capillaries diagnostic imaging, Capillaries pathology, Scleroderma, Systemic diagnostic imaging, Scleroderma, Systemic pathology, Raynaud Disease diagnostic imaging
Abstract

Objectives: Automated systems to analyse nailfold videocapillaroscopy (NVC) images are needed to promptly and comprehensively characterise patients with systemic sclerosis (SSc) or Raynaud's phenomenon (RP). We previously developed, and validated in-house, a deep convolutional neural network-based algorithm to classify NVC-captured images according to the presence/absence of structural abnormalities and/or microhaemorrhages. We present its external clinical validation., Methods: A total of 1,164 NVC images of RP patients were annotated by 5 trained capillaroscopists according to the following categories: normal capillary; dilation; giant capillary; abnormal shape; tortuosity; microhaemorrhage. The images were also presented to the algorithm. Matches and discrepancies between algorithm predictions and those annotations obtained by consensus of ≥3 or ≥4 interobservers were analysed., Results: Consensus among ≥3 capillaroscopists was achieved in 86.9% of images, 75.8% of which were correctly predicted by the algorithm. Consensus among ≥4 experts occurred in 52.0% of cases, in which 87.1% of the algorithm's results matched with those of the expert panel. The algorithm's positive predictive value was >80% for microhaemorrhages and unaltered, giant or abnormal capillaries. Sensitivity was >75% for dilations and tortuosities. Negative predictive value and specificity were >89% for all categories., Conclusions: This external clinical validation suggests that this algorithm is useful to assist in the diagnosis and follow-up of SSc or RP patients in a timely manner. It may also be helpful in the management of patients with any pathology presenting with microvascular changes, as the algorithm has been designed to also be useful for research aiming at extending the usage of nailfold capillaroscopy to more conditions.

Published
2023
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