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2. Discovery of new myositis genetic associations through leveraging other immune-mediated diseases

Author

Reales, Guillermo, Amos, Christopher I., Benveniste, Olivier, Chinoy, Hector, De Bleecker, Jan, De Paepe, Boel, Doria, Andrea, Gregersen, Peter K., Lamb, Janine A., Limaye, Vidya, Lundberg, Ingrid E., Machado, Pedro M., Maurer, Britta, Miller, Frederick W., Molberg, Øyvind, Pachman, Lauren M., Padyukov, Leonid, Radstake, Timothy R., Reed, Ann M., Rider, Lisa G., Rothwell, Simon, Selva-O'Callaghan, Albert, Vencovský, Jiri, Wedderburn, Lucy R., and Wallace, Chris

Published
2024
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3. Screening for late-onset Pompe disease in Internal Medicine departments in Spain

Author

López-Rodríguez, Mónica, Torralba-Cabeza, Miguel Angel, de Pedro, Iván Pérez, Rivera, Alberto, Gil, Roi Suarez, Gómez-Belda, Ana, de la Peña, Jose Luis Patier, de los Santos Moreno, Alberto, Selva-O’Callaghan, Albert, Gárate, Igor Gómez, García, Andrés González, Hurtado, Roberto, de Ureta, Pablo Tutor, Barba-Romero, Miguel Ángel, Milisenda, José C., and Grau-Junyent, Josep M.

Published
2023
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4. Coordinated local RNA overexpression of complement induced by interferon gamma in myositis

Author

Casal-Dominguez, Maria, Pinal-Fernandez, Iago, Pak, Katherine, Muñoz-Braceras, Sandra, Milisenda, Jose C., Torres-Ruiz, Jiram, Dell′Orso, Stefania, Naz, Faiza, Gutierrez-Cruz, Gustavo, Duque-Jaimez, Yaiza, Matas-Garcia, Ana, Valls-Roca, Laura, Garrabou, Gloria, Trallero-Araguas, Ernesto, Walitt, Brian, Christopher-Stine, Lisa, Lloyd, Thomas E., Paik, Julie J., Albayda, Jemima, Corse, Andrea, Grau, Josep Maria, Selva-O’Callaghan, Albert, and Mammen, Andrew L.

Published
2023
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5. Discovery of new myositis genetic associations through leveraging other immune-mediated diseases

Author

Lab Reumatologie/Klinische Immunologie, Reales, Guillermo, Amos, Christopher I., Benveniste, Olivier, Chinoy, Hector, De Bleecker, Jan, De Paepe, Boel, Doria, Andrea, Gregersen, Peter K., Lamb, Janine A., Limaye, Vidya, Lundberg, Ingrid E., Machado, Pedro M., Maurer, Britta, Miller, Frederick W., Molberg, Øyvind, Pachman, Lauren M., Padyukov, Leonid, Radstake, Timothy R., Reed, Ann M., Rider, Lisa G., Rothwell, Simon, Selva-O'Callaghan, Albert, Vencovský, Jiri, Wedderburn, Lucy R., Wallace, Chris, Myositis Genetics Consortium, Lab Reumatologie/Klinische Immunologie, Reales, Guillermo, Amos, Christopher I., Benveniste, Olivier, Chinoy, Hector, De Bleecker, Jan, De Paepe, Boel, Doria, Andrea, Gregersen, Peter K., Lamb, Janine A., Limaye, Vidya, Lundberg, Ingrid E., Machado, Pedro M., Maurer, Britta, Miller, Frederick W., Molberg, Øyvind, Pachman, Lauren M., Padyukov, Leonid, Radstake, Timothy R., Reed, Ann M., Rider, Lisa G., Rothwell, Simon, Selva-O'Callaghan, Albert, Vencovský, Jiri, Wedderburn, Lucy R., Wallace, Chris, and Myositis Genetics Consortium

Published
2024

6. Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome

Author

Remuzgo-Martínez, Sara, Atienza-Mateo, Belén, Ocejo-Vinyals, J. Gonzalo, Genre, Fernanda, Pulito-Cueto, Verónica, Mora-Cuesta, Víctor M., Iturbe-Fernández, David, Lera-Gómez, Leticia, Pérez-Fernández, Raquel, Prieto-Peña, Diana, Irure, Juan, Romero-Bueno, Fredeswinda, Sanchez-Pernaute, Olga, Alonso-Moralejo, Rodrigo, Nuño, Laura, Bonilla, Gema, Vicente-Rabaneda, Esther F., Grafia, Ignacio, Prieto-González, Sergio, Narvaez, Javier, Trallero-Araguas, Ernesto, Selva-O’Callaghan, Albert, Gualillo, Oreste, Cavagna, Lorenzo, Cifrián, José M., Renzoni, Elisabetta A., Castañeda, Santos, López-Mejías, Raquel, and González-Gay, Miguel A.

Published
2021
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7. Anti-nuclear valosin-containing protein-like autoantibody is associated with calcinosis and higher risk of cancer in systemic sclerosis

Author

Perurena-Prieto, Janire, primary, Viñas-Giménez, Laura, additional, Sanz-Martínez, María Teresa, additional, Selva-O’Callaghan, Albert, additional, Callejas-Moraga, Eduardo Luis, additional, Colobran, Roger, additional, Del-Castillo, Alfredo Guillén-, additional, and Simeón-Aznar, Carmen P, additional

Published
2023
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8. Identification of Unique microRNA Profiles in Different Types of Idiopathic Inflammatory Myopathy

Author

Muñoz-Braceras, Sandra, primary, Pinal-Fernandez, Iago, additional, Casal-Dominguez, Maria, additional, Pak, Katherine, additional, Milisenda, José César, additional, Lu, Shajia, additional, Gadina, Massimo, additional, Naz, Faiza, additional, Gutierrez-Cruz, Gustavo, additional, Dell’Orso, Stefania, additional, Torres-Ruiz, Jiram, additional, Grau-Junyent, Josep Maria, additional, Selva-O’Callaghan, Albert, additional, Paik, Julie J., additional, Albayda, Jemima, additional, Christopher-Stine, Lisa, additional, Lloyd, Thomas E., additional, Corse, Andrea M., additional, and Mammen, Andrew L., additional

Published
2023
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9. In inflammatory myopathies, dropped head/bent spine syndrome is associated with scleromyositis: an international case–control study

Author

Pijnenburg, Luc, primary, Giannini, Margherita, additional, Bouchard-Marmen, Maude, additional, Arnaud, Laurent, additional, Barsotti, Simone, additional, Bellando-Randone, Silvia, additional, Bernardi, Livio, additional, Bini, Paola, additional, Blagojevic, Jelena, additional, Codullo, Veronica, additional, Couderc, Marion, additional, De Moreuil, Claire, additional, Dernis, Emanuelle, additional, Diamanti, Luca, additional, Dubost, Jean Jacques, additional, Duval, Fanny, additional, Emmi, Giacomo, additional, Galempoix, Jean-Marc, additional, Geny, Bernard, additional, Gottenberg, Jacques-Eric, additional, Groza, Monica, additional, Guffroy, Aurelien, additional, Guichard, Isabelle, additional, Guilpain, Philippe, additional, Hervier, Baptiste, additional, Hudson, Marie, additional, Iaccarino, Luca, additional, Iannone, Florenzo, additional, Lebrun, Delphine, additional, Marchioni, Enrico, additional, Mariampillai, Kuberaka, additional, Maurier, Francois, additional, Mosca, Marta, additional, Nadaj-Pakleza, Aleksandra, additional, Nannini, Carlotta, additional, Piot, Jean-Maxime, additional, Prieto-González, Sergio, additional, Poursac, Nicolas, additional, Rouanet, Eglantine, additional, Sellam, Jérémie, additional, Selva-O'Callaghan, Albert, additional, Séverac, François, additional, Sibilia, Jean, additional, Sole, Guilhem, additional, Soulages, Antoine, additional, Terrier, Benjamin, additional, Tournadre, Anne, additional, Troyanov, Yves, additional, Vernier, Nathalie, additional, Vesperini, Veronique, additional, Viallard, Jean-François, additional, Ziane, Rahima, additional, Cavagna, Lorenzo, additional, and Meyer, Alain, additional

Published
2023
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10. Influence of MUC5B gene on antisynthetase syndrome

Author

López-Mejías, Raquel, Remuzgo-Martínez, Sara, Genre, Fernanda, Pulito-Cueto, Verónica, Rozas, Sonia M. Fernández, Llorca, Javier, Fernández, David Iturbe, Cuesta, Víctor M. Mora, Ortego-Centeno, Norberto, Gómez, Nair Pérez, Mera-Varela, Antonio, Martínez-Barrio, Julia, López-Longo, Francisco Javier, Mijares, Verónica, Lera-Gómez, Leticia, Usetti, María Piedad, Laporta, Rosalía, Pérez, Virginia, Gafas, Alicia De Pablo, González, María Aránzazu Alfranca, Calvo-Alén, Jaime, Romero-Bueno, Fredeswinda, Sanchez-Pernaute, Olga, Nuno, Laura, Bonilla, Gema, Balsa, Alejandro, Hernández-González, Fernanda, Grafia, Ignacio, Prieto-González, Sergio, Narvaez, Javier, Trallero-Araguas, Ernesto, Selva-O’Callaghan, Albert, Gualillo, Oreste, Castañeda, Santos, Cavagna, Lorenzo, Cifrian, José M., and González-Gay, Miguel A.

Published
2020
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11. Genome-wide imputation identifies novel associations and localises signals in idiopathic inflammatory myopathies

Author

Rothwell, Simon, Amos, Christopher I, Miller, Frederick W, Rider, Lisa G, Lundberg, Ingrid E, Gregersen, Peter K, Vencovsky, Jiri, McHugh, Neil, Limaye, Vidya, Selva-O'Callaghan, Albert, Hanna, Michael G, Machado, Pedro M, Pachman, Lauren M, Reed, Ann M, Molberg, Øyvind, Benveniste, Olivier, Mathiesen, Pernille, Radstake, Timothy, Doria, Andrea, De Bleecker, Jan L, De Paepe, Boel, Maurer, Britta, Ollier, William E, Padyukov, Leonid, O'Hanlon, Terrance P, Lee, Annette, Wedderburn, Lucy R, Chinoy, Hector, and Lamb, Janine A

Subjects
610 Medicine & health
Abstract

OBJECTIVES The idiopathic inflammatory myopathies (IIM) are heterogeneous diseases, thought to be initiated by immune activation in genetically predisposed individuals. In this study we imputed variants from the Immunochip array using a large reference panel to fine-map associations and identify novel associations in IIM. METHODS We analysed 2,565 Caucasian IIM samples collected through the Myositis Genetics Consortium (MYOGEN) and 10,260 ethnically-matched controls. We imputed 1,648,116 variants from the Immunochip array using the Haplotype Reference Consortium panel and conducted association analysis on IIM, and clinical and serological subgroups. RESULTS The human leukocyte antigen (HLA) locus was consistently the most significantly associated region. Four non-HLA regions reached genome-wide significance, three in the whole IIM cohort (SDK2 and LINC00924 - both novel, and STAT4), with evidence of independent variants in STAT4, and NAB1 in the polymyositis (PM) subgroup. We also found suggestive evidence of association with loci previously associated with other autoimmune rheumatic diseases (TEC and LTBR). We identified more significant associations than those previously reported in IIM, for STAT4 and DGKQ in the total cohort, for NAB1 and FAM167A-BLK loci in PM, and CCR5 in inclusion body myositis. We found enrichment of variants among DNase I hypersensitivity sites and histone marks associated with active transcription within blood cells. CONCLUSIONS We report novel and strong associations in IIM and PM, and localise signals to single genes and immune cell types. This article is protected by copyright. All rights reserved.

Published
2023

14. Anti-transcription intermediary factor 1-gamma IgG2 isotype is associated with cancer in adult dermatomyositis: an ENMC multinational study

Author

Cordel, Nadège, primary, Dechelotte, Benoît, additional, Jouen, Fabienne, additional, Lamb, Janine A, additional, Chinoy, Hector, additional, New, Paul, additional, Vencovsky, Jiri, additional, Mann, Herman, additional, Galindo-Feria, Angeles S, additional, Dani, Lara, additional, Selva-O’Callaghan, Albert, additional, Werth, Victoria P, additional, Ravishankar, Adarsh, additional, Landon-Cardinal, Océane, additional, Tressières, Benoit, additional, and Boyer, Olivier, additional

Published
2022
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15. Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome‐Wide Imputation.

Author

Rothwell, Simon, Amos, Christopher I., Miller, Frederick W., Rider, Lisa G., Lundberg, Ingrid E., Gregersen, Peter K., Vencovsky, Jiri, McHugh, Neil, Limaye, Vidya, Selva‐O'Callaghan, Albert, Hanna, Michael G., Machado, Pedro M., Pachman, Lauren M., Reed, Ann M., Molberg, Øyvind, Benveniste, Olivier, Mathiesen, Pernille, Radstake, Timothy, Doria, Andrea, and De Bleecker, Jan L.

Subjects
GENETICS of autoimmune diseases, POLYMYOSITIS, SEROLOGY, GENOMICS, HAPLOTYPES, HISTONES, IMMUNITY, RESEARCH funding, MYOSITIS, STATISTICAL models, WHITE people, RHEUMATISM
Abstract

Objective: The idiopathic inflammatory myopathies (IIMs) are heterogeneous diseases thought to be initiated by immune activation in genetically predisposed individuals. We imputed variants from the ImmunoChip array using a large reference panel to fine‐map associations and identify novel associations in IIM. Methods: We analyzed 2,565 Caucasian IIM patient samples collected through the Myositis Genetics Consortium (MYOGEN) and 10,260 ethnically matched control samples. We imputed 1,648,116 variants from the ImmunoChip array using the Haplotype Reference Consortium panel and conducted association analysis on IIM and clinical and serologic subgroups. Results: The HLA locus was consistently the most significantly associated region. Four non‐HLA regions reached genome‐wide significance, SDK2 and LINC00924 (both novel) and STAT4 in the whole IIM cohort, with evidence of independent variants in STAT4, and NAB1 in the polymyositis (PM) subgroup. We also found suggestive evidence of association with loci previously associated with other autoimmune rheumatic diseases (TEC and LTBR). We identified more significant associations than those previously reported in IIM for STAT4 and DGKQ in the total cohort, for NAB1 and FAM167A‐BLK loci in PM, and for CCR5 in inclusion body myositis. We found enrichment of variants among DNase I hypersensitivity sites and histone marks associated with active transcription within blood cells. Conclusion: We found novel and strong associations in IIM and PM and localized signals to single genes and immune cell types. [ABSTRACT FROM AUTHOR]

Published
2023
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16. Clinico–pathological phenotypes of systemic sclerosis–associated myopathy: analysis of a large multicentre cohort

Author

Matas-García, Ana, primary, Guillén-Del-Castillo, Alfredo, additional, Kisluk, Boris, additional, Selva-O'Callaghan, Albert, additional, Espinosa, Gerard, additional, Prieto-González, Sergio, additional, Moreno Lozano, Pedro, additional, Garrabou, Glòria, additional, Grau-Junyent, Josep María, additional, Simeon-Aznar, Carmen Pilar, additional, and Milisenda, José C, additional

Published
2022
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17. COVAD survey 2 long-term outcomes : unmet need and protocol

Author

Fazal, Zoha Zahid, Sen, Parikshit, Joshi, Mrudula, Ravichandran, Naveen, Lilleker, James B., Agarwal, Vishwesh, Kardes, Sinan, Kim, Minchul, Day, Jessica, Makol, Ashima, Milchert, Marcin, Gheita, Tamer, Salim, Babur, Velikova, Tsvetelina, Gracia-Ramos, Abraham Edgar, Parodis, Ioannis, Nikiphorou, Elena, Tan, Ai Lyn, Chatterjee, Tulika, Cavagna, Lorenzo, Saavedra, Miguel A, Shinjo, Samuel Katsuyuki, Ziade, Nelly, Selva-O'Callaghan, Albert, Nune, Arvind, Knitza, Johannes, Kuwana, Masataka, Gutiérrez, Carlos-Enrique Toro, Caballero-Uribe, Carlo Vinicio, Dey, Dzifa, Distler, Oliver, Chinoy, Hector, Agarwal, Vikas, Aggarwal, Rohit, Gupta, Latika, Fazal, Zoha Zahid, Sen, Parikshit, Joshi, Mrudula, Ravichandran, Naveen, Lilleker, James B., Agarwal, Vishwesh, Kardes, Sinan, Kim, Minchul, Day, Jessica, Makol, Ashima, Milchert, Marcin, Gheita, Tamer, Salim, Babur, Velikova, Tsvetelina, Gracia-Ramos, Abraham Edgar, Parodis, Ioannis, Nikiphorou, Elena, Tan, Ai Lyn, Chatterjee, Tulika, Cavagna, Lorenzo, Saavedra, Miguel A, Shinjo, Samuel Katsuyuki, Ziade, Nelly, Selva-O'Callaghan, Albert, Nune, Arvind, Knitza, Johannes, Kuwana, Masataka, Gutiérrez, Carlos-Enrique Toro, Caballero-Uribe, Carlo Vinicio, Dey, Dzifa, Distler, Oliver, Chinoy, Hector, Agarwal, Vikas, Aggarwal, Rohit, and Gupta, Latika

Abstract

Vaccine hesitancy is considered a major barrier to achieving herd immunity against COVID-19. While multiple alternative and synergistic approaches including heterologous vaccination, booster doses, and antiviral drugs have been developed, equitable vaccine uptake remains the foremost strategy to manage pandemic. Although none of the currently approved vaccines are live-attenuated, several reports of disease flares, waning protection, and acute-onset syndromes have emerged as short-term adverse events after vaccination. Hence, scientific literature falls short when discussing potential long-term effects in vulnerable cohorts. The COVAD-2 survey follows on from the baseline COVAD-1 survey with the aim to collect patient-reported data on the long-term safety and tolerability of COVID-19 vaccines in immune modulation. The e-survey has been extensively pilot-tested and validated with translations into multiple languages. Anticipated results will help improve vaccination efforts and reduce the imminent risks of COVID-19 infection, especially in understudied vulnerable groups.

Published
2022
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18. COVID-19 Vaccination In Autoimmune Diseases (COVAD) Study : Vaccine Safety In Idiopathic Inflammatory Myopathies

Author

Gil-Vila, Albert, Naveen, R., Selva-O'Callaghan, Albert, Sen, Parikshit, Nune, Arvind, Gaur, Prithvi Sanjeevkumar, Gonzalez, Raquel Arànega, Lilleker, James B., Joshi, Mrudula, Agarwal, Vishwesh, Kardes, Sinan, Kim, Minchul, Day, Jessica, Makol, Ashima, Milchert, Marcin, Gheita, Tamer, Salim, Babur, Velikova, Tsvetelina, Gracia-Ramos, Abraham Edgar, Parodis, Ioannis, Nikiphorou, Elena, Tan, Ai Lyn, Chatterjee, Tulika, Cavagna, Lorenzo, Saavedra, Miguel A, Shinjo, Samuel Katsuyuki, Ziade, Nelly, Knitza, Johannes, Kuwana, Masataka, Distler, Oliver, Chinoy, Hector, Agarwal, Vikas, Aggarwal, Rohit, Gupta, Latika, Gil-Vila, Albert, Naveen, R., Selva-O'Callaghan, Albert, Sen, Parikshit, Nune, Arvind, Gaur, Prithvi Sanjeevkumar, Gonzalez, Raquel Arànega, Lilleker, James B., Joshi, Mrudula, Agarwal, Vishwesh, Kardes, Sinan, Kim, Minchul, Day, Jessica, Makol, Ashima, Milchert, Marcin, Gheita, Tamer, Salim, Babur, Velikova, Tsvetelina, Gracia-Ramos, Abraham Edgar, Parodis, Ioannis, Nikiphorou, Elena, Tan, Ai Lyn, Chatterjee, Tulika, Cavagna, Lorenzo, Saavedra, Miguel A, Shinjo, Samuel Katsuyuki, Ziade, Nelly, Knitza, Johannes, Kuwana, Masataka, Distler, Oliver, Chinoy, Hector, Agarwal, Vikas, Aggarwal, Rohit, and Gupta, Latika

Abstract

INTRODUCTION/AIMS: We studied COVID-19 vaccination-related adverse events (ADEs) 7-days post-vaccination in patients with idiopathic inflammatory myopathies (IIMs) and other systemic autoimmune and inflammatory disorders (SAIDs). METHODS: 7-day vaccine ADEs were collected in an international patient self-reported e-survey. Descriptive statistics and multivariable regression were performed. RESULTS: 10,900 respondents [1227 IIMs; 4640 SAIDs; 5033 healthy controls (HCs), median age 42 (IQR 30-55) years, 74% female, 45% Caucasian, 69% completely vaccinated] were analysed. 76.3% IIMs patients reported minor and 4.6% major ADEs. Patients with active IIMs reported more frequent major [OR 2.7 (1.04-7.3)] and minor [OR 1.5 (1.1-2.2)] ADEs than inactive IIMs. Rashes were more frequent in IIMs [OR-2.3(1.2-4.2)] than HCs. ADEs were not impacted by steroid dose, although hydroxychloroquine and intravenous/subcutaneous immunoglobulins were associated with a higher risk of minor ADEs [OR 1.9 (1.1-3.3), OR 2.2 (1.1-4.3)]. Overall, ADEs were less frequent in inclusion body myositis (IBM) and BNT162b2 (Pfizer) vaccine recipients DISCUSSION: 7-day post-vaccination ADEs were comparable in patients with IIMs, SAIDs, and HCs, except for a higher risk of rashes in IIMs. Patients with DM, active disease may be at higher risk, and IBM patients at lower risk of specific ADEs. Overall, the benefit of preventing severe COVID-19 through vaccination likely outweighs the risk of vaccine-related ADEs Our results may inform future guidelines regarding COVID-19 vaccination in patients with SAIDs, and specifically in IIMs. Studies to evaluate long-term outcomes and disease flares are needed to shed more light on developing future COVID-19 vaccination guidelines., Funding agency:National Institution for Health Research Manchester Biomedical Research Centre

Published
2022
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19. COVID-19 Vaccination In Autoimmune Diseases (COVAD) Study: Vaccine Safety In Idiopathic Inflammatory Myopathies

Author

Gil-Vila, Albert; https://orcid.org/0000-0003-2786-2009, Naveen, Ravichandran; https://orcid.org/0000-0003-2014-3925, Selva-O'Callaghan, Albert; https://orcid.org/0000-0003-2823-9761, Sen, Parikshit; https://orcid.org/0000-0002-1630-6026, Nune, Arvind; https://orcid.org/0000-0002-3849-614X, Distler, Oliver; https://orcid.org/0000-0002-0546-8310, et al, COVAD Study Group, Gil-Vila, Albert; https://orcid.org/0000-0003-2786-2009, Naveen, Ravichandran; https://orcid.org/0000-0003-2014-3925, Selva-O'Callaghan, Albert; https://orcid.org/0000-0003-2823-9761, Sen, Parikshit; https://orcid.org/0000-0002-1630-6026, Nune, Arvind; https://orcid.org/0000-0002-3849-614X, Distler, Oliver; https://orcid.org/0000-0002-0546-8310, et al, and COVAD Study Group

Abstract

INTRODUCTION/AIMS: We studied COVID-19 vaccination-related adverse events (ADEs) 7-days post-vaccination in patients with idiopathic inflammatory myopathies (IIMs) and other systemic autoimmune and inflammatory disorders (SAIDs). METHODS: 7-day vaccine ADEs were collected in an international patient self-reported e-survey. Descriptive statistics and multivariable regression were performed. RESULTS: 10,900 respondents [1227 IIMs; 4640 SAIDs; 5033 healthy controls (HCs), median age 42 (IQR 30-55) years, 74% female, 45% Caucasian, 69% completely vaccinated] were analysed. 76.3% IIMs patients reported minor and 4.6% major ADEs. Patients with active IIMs reported more frequent major [OR 2.7 (1.04-7.3)] and minor [OR 1.5 (1.1-2.2)] ADEs than inactive IIMs. Rashes were more frequent in IIMs [OR-2.3(1.2-4.2)] than HCs. ADEs were not impacted by steroid dose, although hydroxychloroquine and intravenous/subcutaneous immunoglobulins were associated with a higher risk of minor ADEs [OR 1.9 (1.1-3.3), OR 2.2 (1.1-4.3)]. Overall, ADEs were less frequent in inclusion body myositis (IBM) and BNT162b2 (Pfizer) vaccine recipients DISCUSSION: 7-day post-vaccination ADEs were comparable in patients with IIMs, SAIDs, and HCs, except for a higher risk of rashes in IIMs. Patients with DM, active disease may be at higher risk, and IBM patients at lower risk of specific ADEs. Overall, the benefit of preventing severe COVID-19 through vaccination likely outweighs the risk of vaccine-related ADEs Our results may inform future guidelines regarding COVID-19 vaccination in patients with SAIDs, and specifically in IIMs. Studies to evaluate long-term outcomes and disease flares are needed to shed more light on developing future COVID-19 vaccination guidelines.

Published
2022

20. Anti-transcription intermediary factor 1-gamma IgG2 isotype is associated with cancer in adult dermatomyositis: an ENMC multinational study.

Author

Cordel, Nadège, Dechelotte, Benoît, Jouen, Fabienne, Lamb, Janine A, Chinoy, Hector, New, Paul, Vencovsky, Jiri, Mann, Herman, Galindo-Feria, Angeles S, Dani, Lara, Selva-O'Callaghan, Albert, Werth, Victoria P, Ravishankar, Adarsh, Landon-Cardinal, Océane, Tressières, Benoit, and Boyer, Olivier

Subjects
TUMOR risk factors, AUTOANTIBODIES, DERMATOMYOSITIS, RETROSPECTIVE studies, GAMMA globulins, RISK assessment, IMMUNOASSAY, CANCER patients, ENZYME-linked immunosorbent assay, DESCRIPTIVE statistics, TRANSCRIPTION factors, TUMOR markers, CRYOPRESERVATION of organs, tissues, etc., CHEMICAL inhibitors, ADULTS
Abstract

Objective To assess the role of the anti-TIF1γ auto-antibody (aAb) IgG2 isotype as a biomarker of cancer in anti-TIF1γ aAb-positive adult DM. Methods International multicentre retrospective study with the following inclusion criteria: (i) diagnosis of DM according to ENMC criteria; (ii) presence of anti-TIF1γ IgG aAb determined using an in-house addressable laser bead immunoassay (ALBIA) from cryopreserved serums sampled at time of DM diagnosis and (iii) available baseline characteristics and follow-up data until the occurrence of cancer and/or a minimum follow-up of 1 year for patients without known cancer at diagnosis. Detection and quantification of anti-TIF1γ IgG2 aAb was done using the in-house ALBIA. In addition, a recent ELISA commercial kit was used for anti-TIF1γ IgG aAb quantification. Results A total of 132 patients (mean age 55±15 years) of whom 72 (54.5%) had an associated cancer were analysed. The association between the presence of cancer and the presence of anti-TIF1γ IgG2 aAb was statistically significant (P  = 0.026), with an OR of 2.26 (95% CI: 1.10, 4.76). Patients with cancer displayed significantly higher anti-TIF1γ IgG2 aAb ALBIA values with a median value of 1.15 AU/ml (IQR: 0.14–9.76) compared with 0.50 AU/ml (IQR: 0.14–1.46) for patients without cancer (P  = 0.042). In addition, patients with cancer displayed significantly higher anti-TIF1γ IgG aAb ELISA values with a median value of 127.5 AU/ml (IQR: 81.5–139.6) compared with 93.0 AU/ml (IQR: 54.0–132.9) for patients without cancer (P  = 0.004). Conclusion These results suggest considering anti-TIF1γ IgG2 ALBIA and IgG ELISA values as biomarkers of cancer in anti-TIF1 γ aAb-positive adult DM. [ABSTRACT FROM AUTHOR]

Published
2023
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21. Gastrointestinal Involvement in Dermatomyositis

Author

Matas-Garcia, Ana, primary, Milisenda, José C., additional, Espinosa, Gerard, additional, Cuatrecasas, Míriam, additional, Selva-O’Callaghan, Albert, additional, Grau, Josep María, additional, and Prieto-González, Sergio, additional

Published
2022
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23. Performance of the 2017 EULAR/ACR classification criteria for inflammatory myopathies in patients with myositis-specific autoantibodies

Author

Casal-Dominguez, Maria, Pinal-Fernandez, Iago, Pak, Katherine, Huang, Wilson, Selva-O’Callaghan, Albert, Albayda, Jemima, Casciola-Rosen, Livia, Paik, Julie J., Tiniakou, Eleni, Mecoli, Christopher A., Lloyd, Thomas E., Danoff, Sonye K., Christopher-Stine, Lisa, and Mammen, Andrew L.

Subjects
Adult, Male, Phenotype, Myositis, Rheumatology, Humans, Female, Middle Aged, Article, Aged, Autoantibodies
Abstract

We undertook this study to 1) determine the sensitivity of the European Alliance of Associations for Rheumatology (EULAR)/American College of Rheumatology (ACR) classification criteria for idiopathic inflammatory myopathies (IIMs) to properly classify myositis-specific autoantibody (MSA)-positive myositis patients, 2) describe the phenotype and muscle involvement over time in different MSA-positive patients, and 3) compare MSA subgroups to EULAR/ACR criteria-defined myositis subgroups for their capacity to predict clinical phenotypes in patients with IIMs.The study included 524 MSA-positive myositis patients from the Johns Hopkins Myositis Center. Each patient was classified using the EULAR/ACR classification criteria. Patient phenotypes were summarized using factor analysis of mixed data (FAMD). We compared the ability of MSAs to that of the EULAR/ACR classification subgroups to predict the phenotype of patients by applying the Akaike information criterion (AIC) and the Bayesian information criteria (BIC) to the linear regression models.Overall, 91% of MSA-positive patients met the EULAR/ACR criteria to be classified as having myositis. However, 20% of patients with anti-hydroxymethylglutaryl-coenzyme A reductase (anti-HMGCR) and 50% of patients with anti-PL-7 were incorrectly classified as not having myositis. Furthermore, ~10% of patients with anti-signal recognition particle (anti-SRP) and patients with anti-HMGCR were misclassified as having inclusion body myositis. FAMD demonstrated that patients within each MSA-defined subgroup had similar phenotypes. Application of both the AIC and BIC to the linear regression models revealed that MSAs were better predictors of myositis phenotypes than the subgroups defined by the EULAR/ACR criteria.Although the EULAR/ACR criteria successfully classified 91% of MSA-positive myositis patients, certain MSA-defined subgroups, including those with autoantibodies against HMGCR, SRP, and PL-7, are frequently misclassified. In myositis patients with MSAs, autoantibodies outperform the EULAR/ACR-defined myositis subgroups in predicting the clinical phenotypes of patients. These findings underscore the need to include MSAs in a revised myositis classification scheme.

Published
2022

24. Performance of the 2017 European Alliance of Associations for Rheumatology/American College of Rheumatology Classification Criteria for Idiopathic Inflammatory Myopathies in Patients With Myositis‐Specific Autoantibodies

Author

Casal‐Dominguez, Maria, primary, Pinal‐Fernandez, Iago, additional, Pak, Katherine, additional, Huang, Wilson, additional, Selva‐O'Callaghan, Albert, additional, Albayda, Jemima, additional, Casciola‐Rosen, Livia, additional, Paik, Julie J., additional, Tiniakou, Eleni, additional, Mecoli, Christopher A., additional, Lloyd, Thomas E., additional, Danoff, Sonye K., additional, Christopher‐Stine, Lisa, additional, and Mammen, Andrew L., additional

Published
2022
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25. Clinico–pathological phenotypes of systemic sclerosis–associated myopathy: analysis of a large multicentre cohort.

Author

Matas-García, Ana, Guillén-Del-Castillo, Alfredo, Kisluk, Boris, Selva-O'Callaghan, Albert, Espinosa, Gerard, Prieto-González, Sergio, Lozano, Pedro Moreno, Garrabou, Glòria, Grau-Junyent, Josep María, Simeon-Aznar, Carmen Pilar, and Milisenda, José C

Subjects
MUSCLE diseases, MUSCULOSKELETAL system diseases, BIOPSY, INFLAMMATION, SYSTEMIC scleroderma, DESCRIPTIVE statistics, MYOSITIS, PHENOTYPES
Abstract

Objective The objective of this study was to analyse the clinico–serological and histological phenotypes of patients with SSc with associated myopathy. Methods From November 2002 to September 2020, 52 patients with SSc underwent a muscle biopsy for suspected myopathy. We established two subgroups according to the histological findings based on the presence of isolated fibrosis or fibrosis together with significant inflammation. These patterns were designated as fibrosing and inflammatory, respectively. Clinical data, antibody profile, electrophysiologic studies, muscle biopsy findings and data regarding treatment, mortality and survival were compared between the two groups. Results Fourteen biopsies had a fibrosing pattern, whereas 26 showed an inflammatory pattern that could be classified (according to the predominant pattern) into DM (n  = 7), necrotizing myopathy (n  = 4) and non-specific myositis (n  = 15). Additionally, 12 muscle biopsies were reported as neurogenic atrophy (n  = 2), or normal muscle or minimal changes (n  = 10). Compared with the inflammatory group, SSc patients with the fibrosing pattern presented a higher prevalence of ischaemic heart disease (38.5% vs 3.8%, P  = 0.011), conduction abnormalities or arrhythmias (61.5% vs 26.9%, P  = 0.036), anti-topo I antibodies (42.9% vs 11.5%, P  = 0.044), greater median ESR (53.5 mm/h vs 32.5 mm/h, P  = 0.013), with poor response to treatment and a higher mortality (42.9% vs 3.8%, P  = 0.004) and lower cumulative survival (P  = 0.035). Conclusions Patients with SSc-associated myopathy require a comprehensive approach that encompasses clinical, serological and histopathological aspects, given their outcome predictive capacity. At least two different phenotypes can be drawn, considering clinico–pathological features. Significant differences are delineated between both a fibrotic and an inflammatory phenotype. [ABSTRACT FROM AUTHOR]

Published
2023
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27. Nailfold capillaroscopy characteristics of antisynthetase syndrome and possible clinical associations : Results of a multicenter international study

Author

Sebastiani, Marco, Triantafyllias, Konstantinos, Manfredi, Andreina, González-Gay, Miguel Angel, Palmou-Fontana, Natalia, Cassone, Giulia, Drott, Ulrich, Delbrück, Christiane, Rojas-Serrano, Jorge, Bertolazzi, Chiara, Nuño, Laura, Giannini, Margherita, Iannone, Florenzo, Vicente, Esther F., Castañeda, Santos, Selva-O'Callaghan, Albert, Araguas, Ernesto Trallero, Emmi, Giacomo, Iuliano, Annamaria, Bauhammer, Jutta, Miehle, Nikolaus, Parisi, Simone, Cavagna, Lorenzo, Codullo, Veronica, Montecucco, Carlomaurizio, Lopez-Longo, Francisco Javier, Martínez-Barrio, Julia, Nieto-González, Juan Carlos, Vichi, Silvia, Confalonieri, Marco, Tomietto, Paola, Bergner, Raoul, Sulli, Alberto, Bonella, Francesco, Furini, Federica, Scirè, Carlo Alberto, Bortoluzzi, Alessandra, Specker, Christof, Barsotti, Simone, Neri, Rossella, Mosca, Marta, Caproni, Marzia, Weinmann-Menke, Julia, Schwarting, Andreas, Smith, Vanessa, Cutolo, Maurizio, Selva-O’Callaghan, Albert, Sebastiani, M, Triantafyllias, K, Manfredi, A, Gonzalez-Gay, M, Palmou-Fontana, N, Cassone, G, Drott, U, Delbruck, C, Rojas-Serrano, J, Bertolazzi, C, Nuno, L, Giannini, M, Iannone, F, Vicente, E, Castaneda, S, Selva-O'Callaghan, A, Araguas, E, Emmi, G, Iuliano, A, Bauhammer, J, Miehle, N, Parisi, S, Cavagna, L, Codullo, V, Montecucco, C, Lopez-Longo, F, Martinez-Barrio, J, Nieto-Gonzalez, J, Vichi, S, Confalonieri, M, Tomietto, P, Bergner, R, Sulli, A, Bonella, F, Furini, F, Scire, C, Bortoluzzi, A, Specker, C, Barsotti, S, Neri, R, Mosca, M, Caproni, M, Weinmann-Menke, J, Schwarting, A, Smith, V, Cutolo, M, Sebastiani, Marco, Triantafyllias, Konstantino, Manfredi, Andreina, Angel González-Gay, Miguel, Palmou-Fontana, Natalia, Cassone, Giulia, Drott, Ulrich, Delbrück, Christiane, Rojas-Serrano, Jorge, Bertolazzi, Chiara, Nuño, Laura, Giannini, Margherita, Iannone, Florenzo, Vicente, Esther F., Castañeda, Santo, Selva-O’Callaghan, Albert, Trallero Araguas, Ernesto, Emmi, Giacomo, Iuliano, Annamaria, Bauhammer, Jutta, Miehle, Nikolau, Parisi, Simone, Cavagna, Lorenzo, Codullo, Veronica, Montecucco, Carlomaurizio, Javier Lopez-Longo, Francisco, Martínez-Barrio, Julia, Carlos Nieto-González, Juan, Vichi, Silvia, Confalonieri, Marco, Tomietto, Paola, Bergner, Raoul, Sulli, Alberto, Bonella, Francesco, Furini, Federica, Alberto Scirè, Carlo, Bortoluzzi, Alessandra, Specker, Christof, Barsotti, Simone, Neri, Rossella, Mosca, Marta, Caproni, Marzia, Weinmann-Menke, Julia, Schwarting, Andrea, Smith, Vanessa, and Cutolo, Maurizio

Subjects
Male, Medizin, Antisynthetase syndrome, ANTISYNTHETASE ANTIBODIES, Disease, Serology, Microscopic Angioscopy, 0302 clinical medicine, Interquartile range, Capillaroscopy, Anti-synthetase syndrome, Immunology and Allergy, 030212 general & internal medicine, Raynaud phenomenon, Prospective cohort study, Myositis, Nailfold Capillaroscopy, Middle Aged, ANTISYNTHETASE SYNDROME, NAILFOLD VIDEOCAPILLAROSCOPY, RAYNAUD PHENOMENON, SYSTEMIC SCLEROSIS PATTERN, Antibodies, Antinuclear, Female, Adult, medicine.medical_specialty, Nailfold capillaroscopy, anti-synthetase syndrome, myositis, Immunology, Systemic sclerosis pattern, NO, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, Rheumatology, Internal medicine, medicine, Humans, Aged, Retrospective Studies, 030203 arthritis & rheumatology, Antisynthetase antibodie, business.industry, Nailfold videocapillaroscopy, Raynaud Disease, Antisynthetase antibodies, Antisynthetase syndrome, Nailfold videocapillaroscopy, Raynaud phenomenon, Systemic sclerosis pattern, medicine.disease, Capillaries, Nails, business, Follow-Up Studies
Abstract

Objective.To describe nailfold videocapillaroscopy (NVC) features of patients with antisynthetase syndrome (AS) and to investigate possible correlations with clinical and serological features of the disease.Methods.We retrospectively analyzed NVC images of 190 patients with AS [females/males 3.63, mean age 49.7 ± 12.8 yrs, median disease duration 53.7 mos (interquartile range 82), 133 anti-Jo1 and 57 non–anti-Jo1-positive patients]. For each patient, we examined number of capillaries, giant capillaries, microhemorrhages, avascular areas, ramified capillaries, and the presence of systemic sclerosis (SSc)-like pattern. Finally, we correlated NVC features with clinical and serological findings of patients with AS. Concomitantly, a historical cohort of 75 patients with antinuclear antibody–negative primary Raynaud phenomenon (RP) and longterm followup was used as a control group (female/male ratio 4.13/1, mean age 53.9 ± 17.6 yrs) for NVC measures.Results.NVC abnormalities were observed in 62.1% of AS patients compared with 29.3% of primary RP group (p < 0.001). An SSc-like pattern was detected in 67 patients (35.3%) and it was associated with anti-Jo1 antibodies (p = 0.002) and also with a longer disease duration (p = 0.004). Interestingly, there was no significant correlation between the presence of SSc-like pattern and RP, and only 47% of patients with SSc-like pattern had RP.Conclusion.NVC abnormalities are commonly observed in AS, independently from the occurrence of RP. The presence of an SSc-like pattern could allow identification of a more defined AS subtype, and prospective studies could confirm the association with clinical and serological features of AS.

Published
2019

28. The challenge of comprehensive nailfold videocapillaroscopy practice: a further contribution

Author

Gracia Tello, Borja, Ramos Ibañez, Eduardo, Fanlo Mateo, Patricia, Sáez Cómet, Luis, Martínez Robles, Elena, Ríos Blanco, Juan José, Marí Alfonso, Begoña, Espinosa Garriga, Gerard, Todolí Parra, José, Ortego Centeno, Norberto, Callejas Rubio, José Luis, Freire Dapena, Mayka, Marín Ballvé, Adela, Selva-O'Callaghan, Albert, Guillén Del Castillo, Alfredo, Simeón Aznar, Carmen Pilar, and Fonollosa Pla, Vicent

Subjects
Nails, Rheumatology, Immunology, Humans, Reproducibility of Results, Immunology and Allergy, Software, Microscopic Angioscopy, Capillaries
Abstract

Although classification systems and scores for capillaroscopy interpretation have been published, there is a lack of homogenization for the procedure, especially in the way and place the images are taken, the counting of the capillaries and the measuring of their size. Our objective is to provide a deep learning-based software to obtain objective and exhaustive data for the whole nailfold without increasing the time or effort needed to do the examination, or requiring expensive equipment. An automated software to count nailfold capillaries has been designed, through an exploratory image dataset of 2,713 images with 18,000 measurements of 3 different types. Subsequently, application rules have been created to detect the morphology of nailfold videocapillaroscopy images, through a training set of images. The software reliability has been evaluated with standard metrics used in the machine learning field for object detection tasks, comparing automatic and manual counting on the same NVC images. A mean average precision (mAP) of 0.473 is achieved for detecting and classifying capillaries and haemorrhages by their shape, and a mAP of 0.515 is achieved for detecting and classifying capillaries by their size. A precision of 83.84% and a recall of 92.44% in the identification of capillaries was estimated. Deep learning is a useful tool in nailfold videocapillaroscopy that allows to analyse objectively and homogeneously images taken with multiple devices. It should make the assessment of the capillary morphology in nailfold video capillaroscopy easier, quicker, more complete and accessible to everyone.

Published
2021

30. Corrigendum to: A systematic review and meta-analysis to inform cancer screening guidelines in idiopathic inflammatory myopathies

Author

Oldroyd, Alexander G S, primary, Allard, Andrew B, additional, Callen, Jeffrey P, additional, Chinoy, Hector, additional, Chung, Lorinda, additional, Fiorentino, David, additional, George, Michael D, additional, Gordon, Patrick, additional, Kolstad, Kate, additional, Kurtzman, Drew J B, additional, Machado, Pedro M, additional, McHugh, Neil J, additional, Postolova, Anna, additional, Selva-O’Callaghan, Albert, additional, Schmidt, Jens, additional, Tansley, Sarah, additional, Vleugels, Ruth Ann, additional, Werth, Victoria P, additional, and Aggarwal, Rohit, additional

Published
2021
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32. A systematic review and meta-analysis to inform cancer screening guidelines in idiopathic inflammatory myopathies

Author

Oldroyd, Alexander G. S., Allard, Andrew B., Callen, Jeffrey P., Chinoy, Hector, Chung, Lorinda, Fiorentino, David, George, Michael D., Gordon, Patrick, Kolstad, Kate, Kurtzman, Drew J. B., Machado, Pedro M., McHugh, Neil J., Postolova, Anna, Selva-O'Callaghan, Albert, Schmidt, Jens, Tansley, Sarah, Vleugels, Ruth Ann, Werth, Victoria P., Aggarwal, Rohit, and Universitat Autònoma de Barcelona

Subjects
Meta-analysis, Myositis, Neoplasia, Epidemiology, Muscle, CT scanning, Autoantibodies
Abstract

To identify clinical factors associated with cancer risk in the idiopathic inflammatory myopathies (IIMs) and to systematically review the existing evidence related to cancer screening. A systematic literature search was carried out on Medline, Embase and Scopus. Cancer risk within the IIM population (i.e. not compared with the general population) was expressed as risk ratios (RR) for binary variables and weighted mean differences (WMD) for continuous variables. Evidence relating to cancer screening practices in the IIMs were synthesized via narrative review. Sixty-nine studies were included in the meta-analysis. DM subtype (RR 2.21), older age (WMD 11.19), male sex (RR 1.53), dysphagia (RR 2.09), cutaneous ulceration (RR 2.73) and anti-transcriptional intermediary factor-1 gamma positivity (RR 4.66) were identified as being associated with significantly increased risk of cancer. PM (RR 0.49) and clinically amyopathic DM (RR 0.44) subtypes, Raynaud's phenomenon (RR 0.61), interstitial lung disease (RR 0.49), very high serum creatine kinase (WMD −1189.96) or lactate dehydrogenase (WMD −336.52) levels, and anti-Jo1 (RR 0.45) or anti-EJ (RR 0.17) positivity were identified as being associated with significantly reduced risk of cancer. Nine studies relating to IIM-specific cancer screening were included. CT scanning of the thorax, abdomen and pelvis appeared to be effective in identifying underlying asymptomatic cancers. Cancer risk factors should be evaluated in patients with IIM for risk stratification. Screening evidence is limited but CT scanning could be useful. Prospective studies and consensus guidelines are needed to establish cancer screening strategies in IIM patients

Published
2021

33. Corrigendum to : A systematic review and meta-analysis to inform cancer screening guidelines in idiopathic inflammatory myopathies

Author

Oldroyd, Alexander G. S., Allard, Andrew B., Callen, Jeffrey P., Chinoy, Hector, Chung, Lorinda, Fiorentino, David, George, Michael D., Gordon, Patrick, Kolstad, Kate, Kurtzman, Drew J. B., Machado, Pedro M., McHugh, Neil J., Postolova, Anna, Selva-O'Callaghan, Albert, Schmidt, Jens, Tansley, Sarah, Vleugels, Ruth Ann, Werth, Victoria P, Aggarwal, Rohit, Universitat Autònoma de Barcelona, Oldroyd, Alexander G. S., Allard, Andrew B., Callen, Jeffrey P., Chinoy, Hector, Chung, Lorinda, Fiorentino, David, George, Michael D., Gordon, Patrick, Kolstad, Kate, Kurtzman, Drew J. B., Machado, Pedro M., McHugh, Neil J., Postolova, Anna, Selva-O'Callaghan, Albert, Schmidt, Jens, Tansley, Sarah, Vleugels, Ruth Ann, Werth, Victoria P, Aggarwal, Rohit, and Universitat Autònoma de Barcelona

Published
2021

34. HLA association with the susceptibility to anti-synthetase syndrome.

Author

Foundation for Research in Rheumatology, Instituto de Salud Carlos III, European Commission, Servicio Cántabro de Salud, Instituto de Investigación Marqués de Valdecilla, Xunta de Galicia, Scleroderma and Raynaud's UK, Versus Arthritis, Remuzgo-Martínez, Sara, Atienza-Mateo, Belén, Ocejo-Vinyals, J. Gonzalo, Pulito-Cueto, Verónica, Prieto-Peña, Diana, Genre, Fernanda, Márquez, Ana, Llorca, Javier, Mora Cuesta, Víctor M., Fernández, David Iturbe, Riesco, Laura, Ortego-Centeno, Norberto, Pérez Gómez, Nair, Mera, Antonio, Martínez Barrio, Julia, López Longo, Francisco Javier, Lera-Gómez, Leticia, Moriano, Clara, Díez, Elvira, Tornero, Eva, Calvo-Alén, Jaime, Romero-Bueno, Fredeswinda, Sánchez-Pernaute, Olga, Nuño, Laura, Bonilla, Gema, Grafia, Ignacio, Prieto-González, Sergio, Narváez, Javier, Trallero-Araguas, Ernesto, Selva-O'Callaghan, Albert, Gualillo, Oreste, Martín, Javier, Cabagna, Lorenzo, Catañeda, Santos, Cifrian, José M., Renzoni, Elizabetta A., López-Mejías, Raquel, González Gay, M. A., Foundation for Research in Rheumatology, Instituto de Salud Carlos III, European Commission, Servicio Cántabro de Salud, Instituto de Investigación Marqués de Valdecilla, Xunta de Galicia, Scleroderma and Raynaud's UK, Versus Arthritis, Remuzgo-Martínez, Sara, Atienza-Mateo, Belén, Ocejo-Vinyals, J. Gonzalo, Pulito-Cueto, Verónica, Prieto-Peña, Diana, Genre, Fernanda, Márquez, Ana, Llorca, Javier, Mora Cuesta, Víctor M., Fernández, David Iturbe, Riesco, Laura, Ortego-Centeno, Norberto, Pérez Gómez, Nair, Mera, Antonio, Martínez Barrio, Julia, López Longo, Francisco Javier, Lera-Gómez, Leticia, Moriano, Clara, Díez, Elvira, Tornero, Eva, Calvo-Alén, Jaime, Romero-Bueno, Fredeswinda, Sánchez-Pernaute, Olga, Nuño, Laura, Bonilla, Gema, Grafia, Ignacio, Prieto-González, Sergio, Narváez, Javier, Trallero-Araguas, Ernesto, Selva-O'Callaghan, Albert, Gualillo, Oreste, Martín, Javier, Cabagna, Lorenzo, Catañeda, Santos, Cifrian, José M., Renzoni, Elizabetta A., López-Mejías, Raquel, and González Gay, M. A.

Abstract

Objective: To investigate the human leukocyte antigen (HLA) association with anti-synthetase syndrome (ASSD). Methods: We conducted the largest immunogenetic HLA-DRB1 and HLA-B study to date in a homogeneous cohort of 168 Caucasian patients with ASSD and 486 ethnically matched healthy controls by sequencing-based-typing. Results: A statistically significant increase of HLA-DRB1*03:01 and HLA-B*08:01 alleles in patients with ASSD compared to healthy controls was disclosed (26.2% versus 12.2%, P = 1.56E–09, odds ratio–OR [95% confidence interval–CI] = 2.54 [1.84–3.50] and 21.4% versus 5.5%, P = 18.95E–18, OR [95% CI] = 4.73 [3.18–7.05]; respectively). Additionally, HLA-DRB1*07:01 allele was significantly decreased in patients with ASSD compared to controls (9.2% versus 17.5%, P = 0.0003, OR [95% CI] = 0.48 [0.31–0.72]). Moreover, a statistically significant increase of HLA-DRB1*03:01 allele in anti-Jo-1 positive compared to anti-Jo-1 negative patients with ASSD was observed (31.8% versus 15.5%, P = 0.001, OR [95% CI] = 2.54 [1.39–4.81]). Similar findings were observed when HLA carrier frequencies were assessed. The HLA-DRB1*03:01 association with anti-Jo-1 was unrelated to smoking history. No HLA differences in patients with ASSD stratified according to the presence/absence of the most representative non-anti-Jo-1 anti-synthetase autoantibodies (anti-PL-12 and anti-PL-7), arthritis, myositis or interstitial lung disease were observed. Conclusions: Our results support the association of the HLA complex with the susceptibility to ASSD.

Published
2021

35. A systematic review and meta-analysis to inform cancer screening guidelines in idiopathic inflammatory myopathies

Author

Oldroyd, Alexander G S, primary, Allard, Andrew B, additional, Callen, Jeffrey P, additional, Chinoy, Hector, additional, Chung, Lorinda, additional, Fiorentino, David, additional, George, Michael D, additional, Gordon, Patrick, additional, Kolstad, Kate, additional, Kurtzman, Drew J B, additional, Machado, Pedro M, additional, McHugh, Neil J, additional, Postolova, Anna, additional, Selva-O’Callaghan, Albert, additional, Schmidt, Jens, additional, Tansley, Sarah, additional, Vleugels, Ruth Ann, additional, Werth, Victoria P, additional, and Aggarwal, Rohit, additional

Published
2021
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36. Anti-TIF-1γ Antibody Detection Using a Commercial Kit vs In-House Immunoblot: Usefulness in Clinical Practice

Author

Mariscal, Anaís, primary, Milán, Milena, additional, Baucells, Andrés, additional, Martínez, Maria Angeles, additional, Guillen, Andrea Garcia, additional, Trallero-Araguás, Ernesto, additional, Alvarado-Cardenas, Marcelo, additional, Martínez-Martínez, Laura, additional, Alserawan, Leticia, additional, Franco-Leyva, Teresa, additional, Sanz-Martínez, María Teresa, additional, Viñas-Giménez, Laura, additional, Corominas, Hector, additional, Juárez, Cándido, additional, Castellví, Iván, additional, and Selva-O’Callaghan, Albert, additional

Published
2021
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38. Anti-HMGCR Specificity of HALIP: A Confirmatory Study

Author

Baucells, Andrés, primary, Martínez, Maria Angeles, additional, Alvarado-Cardenas, Marcelo, additional, Mariscal, Anaís, additional, Martinez-Martinez, Laura, additional, Juárez, Cándido, additional, and Selva-O’Callaghan, Albert, additional

Published
2020
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39. Neutrophil dysregulation is pathogenic in idiopathic inflammatory myopathies

Author

Seto, Nickie, primary, Torres-Ruiz, Jose Jiram, additional, Carmona-Rivera, Carmelo, additional, Pinal-Fernandez, Iago, additional, Pak, Katherine, additional, Purmalek, Monica M., additional, Hosono, Yuji, additional, Fernandes-Cerqueira, Catia, additional, Gowda, Prateek, additional, Arnett, Nathan, additional, Gorbach, Alexander, additional, Benveniste, Olivier, additional, Gómez-Martín, Diana, additional, Selva-O’Callaghan, Albert, additional, Milisenda, José C., additional, Grau-Junyent, Josep M., additional, Christopher-Stine, Lisa, additional, Miller, Frederick W., additional, Lundberg, Ingrid E., additional, Kahlenberg, J. Michelle, additional, Schiffenbauer, Adam I., additional, Mammen, Andrew, additional, Rider, Lisa G., additional, and Kaplan, Mariana J., additional

Published
2020
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40. Cancer in myositis

Author

Selva-O'Callaghan, Albert, primary, Terrones-Peinador, Maria, additional, Marques-Soares, JoanaRita, additional, and Gil-Vila, Albert, additional

Published
2020
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43. Anti‐Cortactin Autoantibodies Are Associated With Key Clinical Features in Adult Myositis But Are Rarely Present in Juvenile Myositis.

Author

Pinal‐Fernandez, Iago, Pak, Katherine, Gil‐Vila, Albert, Baucells, Andres, Plotz, Benjamin, Casal‐Dominguez, Maria, Derfoul, Assia, Martinez‐Carretero, Maria Angeles, Selva‐O'Callaghan, Albert, Sabbagh, Sara, Casciola‐Rosen, Livia, Albayda, Jemima, Paik, Julie, Tiniakou, Eleni, Danoff, Sonye K., Lloyd, Thomas E., Miller, Frederick W., Rider, Lisa G., Christopher‐Stine, Lisa, and Mammen, Andrew L.

Subjects
AUTOANTIBODIES, DERMATOMYOSITIS, HEALTH outcome assessment, COMPARATIVE studies, DISEASE prevalence, ENZYME-linked immunosorbent assay, DESCRIPTIVE statistics, MYOSITIS, PHENOTYPES, LONGITUDINAL method
Abstract

Objective: To define the prevalence and clinical phenotype of anti‐cortactin autoantibodies in adult and juvenile myositis. Methods: In this longitudinal cohort study, anti‐cortactin autoantibody titers were assessed by enzyme‐linked immunosorbent assay in 670 adult myositis patients and 343 juvenile myositis patients as well as in 202 adult healthy controls and 90 juvenile healthy controls. The prevalence of anti‐cortactin autoantibodies was compared among groups. Clinical features of patients with and those without anti‐cortactin autoantibodies were also compared. Results: Anti‐cortactin autoantibodies were more common in adult dermatomyositis (DM) patients (15%; P = 0.005), particularly those with coexisting anti–Mi‐2 autoantibodies (24%; P = 0.03) or anti–NXP‐2 autoantibodies (23%; P = 0.04). In adult myositis, anti‐cortactin was associated with DM skin involvement (62% of patients with anti‐cortactin versus 38% of patients without anti‐cortactin; P = 0.03), dysphagia (36% versus 17%; P = 0.02) and coexisting anti–Ro 52 autoantibodies (47% versus 26%; P = 0.001) or anti‐NT5c1a autoantibodies (59% versus 33%; P = 0.001). Moreover, the titers of anti‐cortactin antibodies were higher in patients with interstitial lung disease (0.15 versus 0.12 arbitrary units; P = 0.03). The prevalence of anti‐cortactin autoantibodies was not different in juvenile myositis patients (2%) or in any juvenile myositis subgroup compared to juvenile healthy controls (4%). Nonetheless, juvenile myositis patients with these autoantibodies had a higher prevalence of "mechanic's hands" (25% versus 7%; P = 0.03), a higher number of hospitalizations (2.9 versus 1.3; P = 0.04), and lower peak creatine kinase values (368 versus 818 IU/liter; P = 0.02) than those without anti‐cortactin. Conclusion: The prevalence of anti‐cortactin autoantibodies is increased in adult DM patients with coexisting anti–Mi‐2 or anti–NXP‐2 autoantibodies. In adults, anti‐cortactin autoantibodies are associated with dysphagia and interstitial lung disease. [ABSTRACT FROM AUTHOR]

Published
2022
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44. Influence of Antisynthetase Antibodies Specificities on Antisynthetase Syndrome Clinical Spectrum Time Course

Author

Cavagna, Lorenzo, Trallero-Araguás, Ernesto, Meloni, Federica, Cavazzana, Ilaria, Rojas-Serrano, Jorge, Feist, Eugen, Zanframundo, Giovanni, Morandi, Valentina, Meyer, Alain, Pereira da Silva, Jose Antonio, Matos Costa, Carlo Jorge, Molberg, Oyvind, Andersson, Helena, Codullo, Veronica, Mosca, Marta, Barsotti, Simone, Neri, Rossella, Scirè, Carlo, Govoni, Marcello, Furini, Federica, Lopez-Longo, Francisco Javier, Martinez-Barrio, Julia, Schneider, Udo, Lorenz, Hanns-Martin, Doria, Andrea, Ghirardello, Anna, Ortego-Centeno, Norberto, Confalonieri, Marco, Tomietto, Paola, Pipitone, Nicolò, Rodriguez Cambron, Ana Belen, Blázquez Cañamero, María Ángeles, Voll, Reinhard Edmund, Wendel, Sarah, Scarpato, Salvatore, Maurier, Francois, Limonta, Massimiliano, Colombelli, Paolo, Giannini, Margherita, Geny, Bernard, Arrigoni, Eugenio, Bravi, Elena, Migliorini, Paola, Mathieu, Alessandro, Piga, Matteo, Drott, Ulrich, Delbrueck, Christiane, Bauhammer, Jutta, Cagnotto, Giovanni, Vancheri, Carlo, Sambataro, Gianluca, De Langhe, Ellen, Sainaghi, Pier Paolo, Monti, Cristina, Gigli Berzolari, Francesca, Romano, Mariaeva, Bonella, Francesco, Specker, Christof, Schwarting, Andreas, Villa Blanco, Ignacio, Selmi, Carlo, Ceribelli, Angela, Nuno, Laura, Mera-Varela, Antonio, Perez Gomez, Nair, Fusaro, Enrico, Parisi, Simone, Sinigaglia, Luigi, Del Papa, Nicoletta, Benucci, Maurizio, Cimmino, Marco Amedeo, Riccieri, Valeria, Conti, Fabrizio, Sebastiani, Gian Domenico, Iuliano, Annamaria, Emmi, Giacomo, Cammelli, Daniele, Sebastiani, Marco, Manfredi, Andreina, Bachiller-Corral, Javier, Sifuentes Giraldo, Walter Alberto, Paolazzi, Giuseppe, Saketkoo, Lesley Ann, Giorgi, Roberto, Salaffi, Fausto, Cifrián, José Manuel, Caporali, Roberto, Locatelli, Francesco, Marchioni, Enrico, Pesci, Alberto, Dei, Giulia, Pozzi, Maria Rosa, Claudia, Lomater, Distler, Jorg, Knitza, Johannes, Schett, George, Iannone, Florenzo, Fornaro, Marco, Franceschini, Franco, Quartuccio, Luca, Gerli, Roberto, Bartoloni, Elena, Bellando Randone, Silvia, Zampogna, Giuseppe, Gonzalez Perez, Montserrat I., Mejia, Mayra, Vicente, Esther, Triantafyllias, Konstantinos, Lopez-Mejias, Raquel, Matucci-Cerinic, Marco, Selva-O'Callaghan, Albert, Castañeda, Santos, Montecucco, Carlomaurizio, González-Gay, Miguel A., Universitat Autònoma de Barcelona, Universidad de Cantabria, Cavagna, L, Trallero-Araguás, E, Meloni, F, Cavazzana, I, Rojas-Serrano, J, Feist, E, Zanframundo, G, Morandi, V, Meyer, A, Pereira da Silva, J, Matos Costa, C, Molberg, O, Andersson, H, Codullo, V, Mosca, M, Barsotti, S, Neri, R, Scirè, C, Govoni, M, Furini, F, Lopez-Longo, F, Martinez-Barrio, J, Schneider, U, Lorenz, H, Doria, A, Ghirardello, A, Ortego-Centeno, N, Confalonieri, M, Tomietto, P, Pipitone, N, Rodriguez Cambron, A, Blázquez Cañamero, M, Voll, R, Wendel, S, Scarpato, S, Maurier, F, Limonta, M, Colombelli, P, Giannini, M, Geny, B, Arrigoni, E, Bravi, E, Migliorini, P, Mathieu, A, Piga, M, Drott, U, Delbrueck, C, Bauhammer, J, Cagnotto, G, Vancheri, C, Sambataro, G, De Langhe, E, Sainaghi, P, Monti, C, Gigli Berzolari, F, Romano, M, Bonella, F, Specker, C, Schwarting, A, Villa Blanco, I, Selmi, C, Ceribelli, A, Nuno, L, Mera-Varela, A, Perez Gomez, N, Fusaro, E, Parisi, S, Sinigaglia, L, Del Papa, N, Benucci, M, Cimmino, M, Riccieri, V, Conti, F, Sebastiani, G, Iuliano, A, Emmi, G, Cammelli, D, Sebastiani, M, Manfredi, A, Bachiller-Corral, J, Sifuentes Giraldo, W, Paolazzi, G, Saketkoo, L, Giorgi, R, Salaffi, F, Cifrian, J, Caporali, R, Locatelli, F, Marchioni, E, Pesci, A, Dei, G, Pozzi, M, Claudia, L, Distler, J, Knitza, J, Schett, G, Iannone, F, Fornaro, M, Franceschini, F, Quartuccio, L, Gerli, R, Bartoloni, E, Bellando Randone, S, Zampogna, G, Gonzalez Perez, M, Mejia, M, Vicente, E, Triantafyllias, K, Lopez-Mejias, R, Matucci-Cerinic, M, Selva-O'Callaghan, A, Castañeda, S, Montecucco, C, and Gonzalez-Gay, M

Subjects
medicine.medical_specialty, antisynthetase antibodies, antisynthetase syndrome, arthritis, interstitial lung disease, myositis, Medizin, Arthritis, lcsh:Medicine, Antisynthetase syndrome, Interstitial lung disease, Article, NO, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, antisynthetase antibodies, antisynthetase syndrome, arthritis, interstitial lung disease, myositis, ddc:610, Myositis, 030203 arthritis & rheumatology, Antisynthetase antibodies, biology, business.industry, lcsh:R, Autoantibody, General Medicine, medicine.disease, arthriti, 030228 respiratory system, Time course, Cohort, biology.protein, Antibody, business, antisynthetase antibodie
Abstract

Antisynthetase syndrome (ASSD) is a rare clinical condition that is characterized by the occurrence of a classic clinical triad, encompassing myositis, arthritis, and interstitial lung disease (ILD), along with specific autoantibodies that are addressed to different aminoacyl tRNA synthetases (ARS). Until now, it has been unknown whether the presence of a different ARS might affect the clinical presentation, evolution, and outcome of ASSD. In this study, we retrospectively recorded the time of onset, characteristics, clustering of triad findings, and survival of 828 ASSD patients (593 anti-Jo1, 95 anti-PL7, 84 anti-PL12, 38 anti-EJ, and 18 anti-OJ), referring to AENEAS (American and European NEtwork of Antisynthetase Syndrome) collaborative group's cohort. Comparisons were performed first between all ARS cases and then, in the case of significance, while using anti-Jo1 positive patients as the reference group. The characteristics of triad findings were similar and the onset mainly began with a single triad finding in all groups despite some differences in overall prevalence. The "ex-novo" occurrence of triad findings was only reduced in the anti-PL12-positive cohort, however, it occurred in a clinically relevant percentage of patients (30%). Moreover, survival was not influenced by the underlying anti-aminoacyl tRNA synthetase antibodies' positivity, which confirmed that antisynthetase syndrome is a heterogeneous condition and that antibody specificity only partially influences the clinical presentation and evolution of this condition. ispartof: JOURNAL OF CLINICAL MEDICINE vol:8 issue:11 ispartof: location:Switzerland status: published

Published
2019

45. Additional file 1: of Adherence to reporting guidelines increases the number of citations: the argument for including a methodologist in the editorial process and peer-review

Author

Vilaró, Marta, Cortés, Jordi, Selva-O’Callaghan, Albert, Urrutia, Agustín, Josep-Maria Ribera, Cardellach, Francesc, Basagaña, Xavier, Elmore, Matthew, Vilardell, Miquel, Altman, Douglas, José-Antonio González, and Cobo, Erik

Abstract

Adherence to reporting guidelines increases the number of citations: the argument for including a methodologist in the editorial process and peer-review. Supplementary material. (DOCX 687 kb)

Published
2019
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46. Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups

Author

Rothwell, Simon, Chinoy, Hector, Lamb, Janine A., Miller, Frederick W., Rider, Lisa G., Wedderburn, Lucy R., McHugh, Neil J., Mammen, Andrew L., Betteridge, Zoe E., Tansley, Sarah L., Bowes, John, Vencovský, Ji I., Deakin, Claire T., Dankó, Katalin, Vidya, Limaye, Selva-O'Callaghan, Albert, Pachman, Lauren M., Reed, Ann M., Molberg, Yvind, Benveniste, Olivier, Mathiesen, Pernille R., Radstake, Timothy R.D.J., Doria, Andrea, De Bleecker, Jan, Lee, Annette T., Hanna, Michael G., Machado, Pedro M., Ollier, William E., Gregersen, Peter K., Padyukov, Leonid, O'Hanlon, Terrance P., Cooper, Robert G., Lundberg, Ingrid E., Rothwell, Simon, Chinoy, Hector, Lamb, Janine A., Miller, Frederick W., Rider, Lisa G., Wedderburn, Lucy R., McHugh, Neil J., Mammen, Andrew L., Betteridge, Zoe E., Tansley, Sarah L., Bowes, John, Vencovský, Ji I., Deakin, Claire T., Dankó, Katalin, Vidya, Limaye, Selva-O'Callaghan, Albert, Pachman, Lauren M., Reed, Ann M., Molberg, Yvind, Benveniste, Olivier, Mathiesen, Pernille R., Radstake, Timothy R.D.J., Doria, Andrea, De Bleecker, Jan, Lee, Annette T., Hanna, Michael G., Machado, Pedro M., Ollier, William E., Gregersen, Peter K., Padyukov, Leonid, O'Hanlon, Terrance P., Cooper, Robert G., and Lundberg, Ingrid E.

Published
2019

47. Influence of Antisynthetase Antibodies Specificities on Antisynthetase Syndrome Clinical Spectrum Time Course

Author

Cavagna, L, Trallero-Araguás, E, Meloni, F, Cavazzana, I, Rojas-Serrano, J, Feist, E, Zanframundo, G, Morandi, V, Meyer, A, Pereira da Silva, J, Matos Costa, C, Molberg, O, Andersson, H, Codullo, V, Mosca, M, Barsotti, S, Neri, R, Scirè, C, Govoni, M, Furini, F, Lopez-Longo, F, Martinez-Barrio, J, Schneider, U, Lorenz, H, Doria, A, Ghirardello, A, Ortego-Centeno, N, Confalonieri, M, Tomietto, P, Pipitone, N, Rodriguez Cambron, A, Blázquez Cañamero, M, Voll, R, Wendel, S, Scarpato, S, Maurier, F, Limonta, M, Colombelli, P, Giannini, M, Geny, B, Arrigoni, E, Bravi, E, Migliorini, P, Mathieu, A, Piga, M, Drott, U, Delbrueck, C, Bauhammer, J, Cagnotto, G, Vancheri, C, Sambataro, G, De Langhe, E, Sainaghi, P, Monti, C, Gigli Berzolari, F, Romano, M, Bonella, F, Specker, C, Schwarting, A, Villa Blanco, I, Selmi, C, Ceribelli, A, Nuno, L, Mera-Varela, A, Perez Gomez, N, Fusaro, E, Parisi, S, Sinigaglia, L, Del Papa, N, Benucci, M, Cimmino, M, Riccieri, V, Conti, F, Sebastiani, G, Iuliano, A, Emmi, G, Cammelli, D, Sebastiani, M, Manfredi, A, Bachiller-Corral, J, Sifuentes Giraldo, W, Paolazzi, G, Saketkoo, L, Giorgi, R, Salaffi, F, Cifrian, J, Caporali, R, Locatelli, F, Marchioni, E, Pesci, A, Dei, G, Pozzi, M, Claudia, L, Distler, J, Knitza, J, Schett, G, Iannone, F, Fornaro, M, Franceschini, F, Quartuccio, L, Gerli, R, Bartoloni, E, Bellando Randone, S, Zampogna, G, Gonzalez Perez, M, Mejia, M, Vicente, E, Triantafyllias, K, Lopez-Mejias, R, Matucci-Cerinic, M, Selva-O'Callaghan, A, Castañeda, S, Montecucco, C, Gonzalez-Gay, M, Cavagna, Lorenzo, Trallero-Araguás, Ernesto, Meloni, Federica, Cavazzana, Ilaria, Rojas-Serrano, Jorge, Feist, Eugen, Zanframundo, Giovanni, Morandi, Valentina, Meyer, Alain, Pereira da Silva, Jose Antonio, Matos Costa, Carlo Jorge, Molberg, Oyvind, Andersson, Helena, Codullo, Veronica, Mosca, Marta, Barsotti, Simone, Neri, Rossella, Scirè, Carlo, Govoni, Marcello, Furini, Federica, Lopez-Longo, Francisco Javier, Martinez-Barrio, Julia, Schneider, Udo, Lorenz, Hanns-Martin, Doria, Andrea, Ghirardello, Anna, Ortego-Centeno, Norberto, Confalonieri, Marco, Tomietto, Paola, Pipitone, Nicolò, Rodriguez Cambron, Ana Belen, Blázquez Cañamero, María Ángeles, Voll, Reinhard Edmund, Wendel, Sarah, Scarpato, Salvatore, Maurier, Francois, Limonta, Massimiliano, Colombelli, Paolo, Giannini, Margherita, Geny, Bernard, Arrigoni, Eugenio, Bravi, Elena, Migliorini, Paola, Mathieu, Alessandro, Piga, Matteo, Drott, Ulrich, Delbrueck, Christiane, Bauhammer, Jutta, Cagnotto, Giovanni, Vancheri, Carlo, Sambataro, Gianluca, De Langhe, Ellen, Sainaghi, Pier Paolo, Monti, Cristina, Gigli Berzolari, Francesca, Romano, Mariaeva, Bonella, Francesco, Specker, Christof, Schwarting, Andreas, Villa Blanco, Ignacio, Selmi, Carlo, Ceribelli, Angela, Nuno, Laura, Mera-Varela, Antonio, Perez Gomez, Nair, Fusaro, Enrico, Parisi, Simone, Sinigaglia, Luigi, Del Papa, Nicoletta, Benucci, Maurizio, Cimmino, Marco Amedeo, Riccieri, Valeria, Conti, Fabrizio, Sebastiani, Gian Domenico, Iuliano, Annamaria, Emmi, Giacomo, Cammelli, Daniele, Sebastiani, Marco, Manfredi, Andreina, Bachiller-Corral, Javier, Sifuentes Giraldo, Walter Alberto, Paolazzi, Giuseppe, Saketkoo, Lesley Ann, Giorgi, Roberto, Salaffi, Fausto, Cifrian, Jose, Caporali, Roberto, Locatelli, Francesco, Marchioni, Enrico, Pesci, Alberto, Dei, Giulia, Pozzi, Maria Rosa, Claudia, Lomater, Distler, Jorg, Knitza, Johannes, Schett, George, Iannone, Florenzo, Fornaro, Marco, Franceschini, Franco, Quartuccio, Luca, Gerli, Roberto, Bartoloni, Elena, Bellando Randone, Silvia, Zampogna, Giuseppe, Gonzalez Perez, Montserrat I, Mejia, Mayra, Vicente, Esther, Triantafyllias, Konstantinos, Lopez-Mejias, Raquel, Matucci-Cerinic, Marco, Selva-O'Callaghan, Albert, Castañeda, Santos, Montecucco, Carlomaurizio, Gonzalez-Gay, Miguel Angel, Cavagna, L, Trallero-Araguás, E, Meloni, F, Cavazzana, I, Rojas-Serrano, J, Feist, E, Zanframundo, G, Morandi, V, Meyer, A, Pereira da Silva, J, Matos Costa, C, Molberg, O, Andersson, H, Codullo, V, Mosca, M, Barsotti, S, Neri, R, Scirè, C, Govoni, M, Furini, F, Lopez-Longo, F, Martinez-Barrio, J, Schneider, U, Lorenz, H, Doria, A, Ghirardello, A, Ortego-Centeno, N, Confalonieri, M, Tomietto, P, Pipitone, N, Rodriguez Cambron, A, Blázquez Cañamero, M, Voll, R, Wendel, S, Scarpato, S, Maurier, F, Limonta, M, Colombelli, P, Giannini, M, Geny, B, Arrigoni, E, Bravi, E, Migliorini, P, Mathieu, A, Piga, M, Drott, U, Delbrueck, C, Bauhammer, J, Cagnotto, G, Vancheri, C, Sambataro, G, De Langhe, E, Sainaghi, P, Monti, C, Gigli Berzolari, F, Romano, M, Bonella, F, Specker, C, Schwarting, A, Villa Blanco, I, Selmi, C, Ceribelli, A, Nuno, L, Mera-Varela, A, Perez Gomez, N, Fusaro, E, Parisi, S, Sinigaglia, L, Del Papa, N, Benucci, M, Cimmino, M, Riccieri, V, Conti, F, Sebastiani, G, Iuliano, A, Emmi, G, Cammelli, D, Sebastiani, M, Manfredi, A, Bachiller-Corral, J, Sifuentes Giraldo, W, Paolazzi, G, Saketkoo, L, Giorgi, R, Salaffi, F, Cifrian, J, Caporali, R, Locatelli, F, Marchioni, E, Pesci, A, Dei, G, Pozzi, M, Claudia, L, Distler, J, Knitza, J, Schett, G, Iannone, F, Fornaro, M, Franceschini, F, Quartuccio, L, Gerli, R, Bartoloni, E, Bellando Randone, S, Zampogna, G, Gonzalez Perez, M, Mejia, M, Vicente, E, Triantafyllias, K, Lopez-Mejias, R, Matucci-Cerinic, M, Selva-O'Callaghan, A, Castañeda, S, Montecucco, C, Gonzalez-Gay, M, Cavagna, Lorenzo, Trallero-Araguás, Ernesto, Meloni, Federica, Cavazzana, Ilaria, Rojas-Serrano, Jorge, Feist, Eugen, Zanframundo, Giovanni, Morandi, Valentina, Meyer, Alain, Pereira da Silva, Jose Antonio, Matos Costa, Carlo Jorge, Molberg, Oyvind, Andersson, Helena, Codullo, Veronica, Mosca, Marta, Barsotti, Simone, Neri, Rossella, Scirè, Carlo, Govoni, Marcello, Furini, Federica, Lopez-Longo, Francisco Javier, Martinez-Barrio, Julia, Schneider, Udo, Lorenz, Hanns-Martin, Doria, Andrea, Ghirardello, Anna, Ortego-Centeno, Norberto, Confalonieri, Marco, Tomietto, Paola, Pipitone, Nicolò, Rodriguez Cambron, Ana Belen, Blázquez Cañamero, María Ángeles, Voll, Reinhard Edmund, Wendel, Sarah, Scarpato, Salvatore, Maurier, Francois, Limonta, Massimiliano, Colombelli, Paolo, Giannini, Margherita, Geny, Bernard, Arrigoni, Eugenio, Bravi, Elena, Migliorini, Paola, Mathieu, Alessandro, Piga, Matteo, Drott, Ulrich, Delbrueck, Christiane, Bauhammer, Jutta, Cagnotto, Giovanni, Vancheri, Carlo, Sambataro, Gianluca, De Langhe, Ellen, Sainaghi, Pier Paolo, Monti, Cristina, Gigli Berzolari, Francesca, Romano, Mariaeva, Bonella, Francesco, Specker, Christof, Schwarting, Andreas, Villa Blanco, Ignacio, Selmi, Carlo, Ceribelli, Angela, Nuno, Laura, Mera-Varela, Antonio, Perez Gomez, Nair, Fusaro, Enrico, Parisi, Simone, Sinigaglia, Luigi, Del Papa, Nicoletta, Benucci, Maurizio, Cimmino, Marco Amedeo, Riccieri, Valeria, Conti, Fabrizio, Sebastiani, Gian Domenico, Iuliano, Annamaria, Emmi, Giacomo, Cammelli, Daniele, Sebastiani, Marco, Manfredi, Andreina, Bachiller-Corral, Javier, Sifuentes Giraldo, Walter Alberto, Paolazzi, Giuseppe, Saketkoo, Lesley Ann, Giorgi, Roberto, Salaffi, Fausto, Cifrian, Jose, Caporali, Roberto, Locatelli, Francesco, Marchioni, Enrico, Pesci, Alberto, Dei, Giulia, Pozzi, Maria Rosa, Claudia, Lomater, Distler, Jorg, Knitza, Johannes, Schett, George, Iannone, Florenzo, Fornaro, Marco, Franceschini, Franco, Quartuccio, Luca, Gerli, Roberto, Bartoloni, Elena, Bellando Randone, Silvia, Zampogna, Giuseppe, Gonzalez Perez, Montserrat I, Mejia, Mayra, Vicente, Esther, Triantafyllias, Konstantinos, Lopez-Mejias, Raquel, Matucci-Cerinic, Marco, Selva-O'Callaghan, Albert, Castañeda, Santos, Montecucco, Carlomaurizio, and Gonzalez-Gay, Miguel Angel

Abstract

Antisynthetase syndrome (ASSD) is a rare clinical condition that is characterized by the occurrence of a classic clinical triad, encompassing myositis, arthritis, and interstitial lung disease (ILD), along with specific autoantibodies that are addressed to different aminoacyl tRNA synthetases (ARS). Until now, it has been unknown whether the presence of a different ARS might affect the clinical presentation, evolution, and outcome of ASSD. In this study, we retrospectively recorded the time of onset, characteristics, clustering of triad findings, and survival of 828 ASSD patients (593 anti-Jo1, 95 anti-PL7, 84 anti-PL12, 38 anti-EJ, and 18 anti-OJ), referring to AENEAS (American and European NEtwork of Antisynthetase Syndrome) collaborative group's cohort. Comparisons were performed first between all ARS cases and then, in the case of significance, while using anti-Jo1 positive patients as the reference group. The characteristics of triad findings were similar and the onset mainly began with a single triad finding in all groups despite some differences in overall prevalence. The "ex-novo" occurrence of triad findings was only reduced in the anti-PL12-positive cohort, however, it occurred in a clinically relevant percentage of patients (30%). Moreover, survival was not influenced by the underlying anti-aminoacyl tRNA synthetase antibodies' positivity, which confirmed that antisynthetase syndrome is a heterogeneous condition and that antibody specificity only partially influences the clinical presentation and evolution of this condition.

Published
2019

48. Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases

Author

Acosta-Herrera, Marialbert, Kerick, Martin, Gonzalez-Serna, David, Wijmenga, Cisca, Franke, Andre, Gregersen, Peter K., Padyukov, Leonid, Worthington, Jane, Vyse, Timothy James, Eugenia Alarcon-Riquelme, Marta, Mayes, Maureen D., Martin, Javier, Miller, Frederick W., Chen, Wei, O'Hanlon, Terrance P., Cooper, Robert G., Vencovsky, Jiri, Rider, Lisa G., Danko, Katalin, Wedderburn, Lucy R., Lundberg, Ingrid E., Pachman, Lauren M., Reed, Ann M., Ytterberg, Steven R., Selva-O'Callaghan, Albert, Radstake, Timothy R., Isenberg, David A., Chinoy, Hector, Ollier, William E. R., Scheet, Paul, Peng, Bo, Lee, Annette, Lamb, Janine A., Amos, Christopher I., Denton, Christopher, Hilton-Jones, David, Plotz, Paul H., Varsani, Hemlata, Radstake, Timothy R. D. J., Gorlova, Olga, Rueda, Blanca, Martin, Jose-Ezequiel, Alizadeh, Behrooz Z., Palomino-Morales, Rogelio, Coenen, Marieke J., Vonk, Madelon C., Voskuyl, Alexandre E., Scheurwegh, Annemie J., Broen, Jasper C., van Riel, Piet L. C. M., van 't Slot, Ruben, Italiaander, Annet, Ophoff, Roel A., Riemekasten, Gabriela, Hunzelmann, Nico, Simeon, Carmen P., Ortego-Centeno, Norberto, Gonzalez-Gay, Miguel A., Gonzalez-Escribano, Maria F., Airo, Paolo, van Laar, Jaap, Herrick, Ariane, Hesselstrand, Roger, Smith, Vanessa, de Keyser, Filip, Houssiau, Fredric, Chee, Meng May, Madhok, Rajan, Shiels, Paul, Westhovens, Rene, Kreuter, Alexander, Kiener, Hans, de Baere, Elfride, Witte, Torsten, Klareskog, Lars, Beretta, Lorenzo, Scorza, Rafaella, Lie, Benedicte A., Hoffman-Vold, Anna-Maria, Carreira, Patricia, Varga, John, Hinchcliff, Monique, Lee, Annette T., Ying, Jun, Han, Younghun, Weng, Shih-Feng, Wigley, Fredrick M., Hummers, Laura, Nelson, J. Lee, Agarwal, Sandeep K., Assassi, Shervin, Gourh, Pravitt, Tan, Filemon K., Koeleman, Bobby P. C., Arnett, Frank C., Acosta-Herrera, Marialbert, Kerick, Martin, Gonzalez-Serna, David, Wijmenga, Cisca, Franke, Andre, Gregersen, Peter K., Padyukov, Leonid, Worthington, Jane, Vyse, Timothy James, Eugenia Alarcon-Riquelme, Marta, Mayes, Maureen D., Martin, Javier, Miller, Frederick W., Chen, Wei, O'Hanlon, Terrance P., Cooper, Robert G., Vencovsky, Jiri, Rider, Lisa G., Danko, Katalin, Wedderburn, Lucy R., Lundberg, Ingrid E., Pachman, Lauren M., Reed, Ann M., Ytterberg, Steven R., Selva-O'Callaghan, Albert, Radstake, Timothy R., Isenberg, David A., Chinoy, Hector, Ollier, William E. R., Scheet, Paul, Peng, Bo, Lee, Annette, Lamb, Janine A., Amos, Christopher I., Denton, Christopher, Hilton-Jones, David, Plotz, Paul H., Varsani, Hemlata, Radstake, Timothy R. D. J., Gorlova, Olga, Rueda, Blanca, Martin, Jose-Ezequiel, Alizadeh, Behrooz Z., Palomino-Morales, Rogelio, Coenen, Marieke J., Vonk, Madelon C., Voskuyl, Alexandre E., Scheurwegh, Annemie J., Broen, Jasper C., van Riel, Piet L. C. M., van 't Slot, Ruben, Italiaander, Annet, Ophoff, Roel A., Riemekasten, Gabriela, Hunzelmann, Nico, Simeon, Carmen P., Ortego-Centeno, Norberto, Gonzalez-Gay, Miguel A., Gonzalez-Escribano, Maria F., Airo, Paolo, van Laar, Jaap, Herrick, Ariane, Hesselstrand, Roger, Smith, Vanessa, de Keyser, Filip, Houssiau, Fredric, Chee, Meng May, Madhok, Rajan, Shiels, Paul, Westhovens, Rene, Kreuter, Alexander, Kiener, Hans, de Baere, Elfride, Witte, Torsten, Klareskog, Lars, Beretta, Lorenzo, Scorza, Rafaella, Lie, Benedicte A., Hoffman-Vold, Anna-Maria, Carreira, Patricia, Varga, John, Hinchcliff, Monique, Lee, Annette T., Ying, Jun, Han, Younghun, Weng, Shih-Feng, Wigley, Fredrick M., Hummers, Laura, Nelson, J. Lee, Agarwal, Sandeep K., Assassi, Shervin, Gourh, Pravitt, Tan, Filemon K., Koeleman, Bobby P. C., and Arnett, Frank C.

Abstract

Objective I mmune-mediated inflammatory diseases (IMIDs) are heterogeneous and complex conditions with overlapping clinical symptoms and elevated familial aggregation, which suggests the existence of a shared genetic component. In order to identify this genetic background in a systematic fashion, we performed the first cross-disease genome-wide meta-analysis in systemic seropositive rheumatic diseases, namely, systemic sclerosis, systemic lupus erythematosus, rheumatoid arthritis and idiopathic inflammatory myopathies. Methods We meta-analysed similar to 6.5 million single nucleotide polymorphisms in 11 678 cases and 19 704 non-affected controls of European descent populations. The functional roles of the associated variants were interrogated using publicly available databases. Results Our analysis revealed five shared genome-wide significant independent loci that had not been previously associated with these diseases: NAB1, KPNA4-ARL14, DGQK, LIMK1 and PRR12. All of these loci are related with immune processes such as interferon and epidermal growth factor signalling, response to methotrexate, cytoskeleton dynamics and coagulation cascade. Remarkably, several of the associated loci are known key players in autoimmunity, which supports the validity of our results. All the associated variants showed significant functional enrichment in DNase hypersensitivity sites, chromatin states and histone marks in relevant immune cells, including shared expression quantitative trait loci. Additionally, our results were significantly enriched in drugs that are being tested for the treatment of the diseases under study. Conclusions We have identified shared new risk loci with functional value across diseases and pinpoint new potential candidate loci that could be further investigated. Our results highlight the potential of drug repositioning among related systemic seropositive rheumatic IMIDs.

Published
2019

49. Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups

Author

UMC Utrecht, CTI Radstake, Translationele immunologie, Infection & Immunity, Rothwell, Simon, Chinoy, Hector, Lamb, Janine A., Miller, Frederick W., Rider, Lisa G., Wedderburn, Lucy R., McHugh, Neil J., Mammen, Andrew L., Betteridge, Zoe E., Tansley, Sarah L., Bowes, John, Vencovský, Ji I., Deakin, Claire T., Dankó, Katalin, Vidya, Limaye, Selva-O'Callaghan, Albert, Pachman, Lauren M., Reed, Ann M., Molberg, Yvind, Benveniste, Olivier, Mathiesen, Pernille R., Radstake, Timothy R.D.J., Doria, Andrea, De Bleecker, Jan, Lee, Annette T., Hanna, Michael G., Machado, Pedro M., Ollier, William E., Gregersen, Peter K., Padyukov, Leonid, O'Hanlon, Terrance P., Cooper, Robert G., Lundberg, Ingrid E., UMC Utrecht, CTI Radstake, Translationele immunologie, Infection & Immunity, Rothwell, Simon, Chinoy, Hector, Lamb, Janine A., Miller, Frederick W., Rider, Lisa G., Wedderburn, Lucy R., McHugh, Neil J., Mammen, Andrew L., Betteridge, Zoe E., Tansley, Sarah L., Bowes, John, Vencovský, Ji I., Deakin, Claire T., Dankó, Katalin, Vidya, Limaye, Selva-O'Callaghan, Albert, Pachman, Lauren M., Reed, Ann M., Molberg, Yvind, Benveniste, Olivier, Mathiesen, Pernille R., Radstake, Timothy R.D.J., Doria, Andrea, De Bleecker, Jan, Lee, Annette T., Hanna, Michael G., Machado, Pedro M., Ollier, William E., Gregersen, Peter K., Padyukov, Leonid, O'Hanlon, Terrance P., Cooper, Robert G., and Lundberg, Ingrid E.

Published
2019

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