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1. Myositis Multidisciplinary Clinic in a Tertiary Referral Center

Author

Melo AT, Dourado E, Campanilho-Marques R, Bandeira M, Barreira SC, Costa J, Pimenta R, Antunes-Duarte S, Cordeiro I, and Fonseca JE

Subjects
inflammatory myopathies, rheumatology, dermatology, rehabilitation medicine, multidisciplinary clinic, Medicine (General), R5-920
Abstract

Ana Teresa Melo,1,2,* Eduardo Dourado,1,2,* Raquel Campanilho-Marques,1,2,* Matilde Bandeira,1,2 Sofia C Barreira,1,2 José Costa,3 Rita Pimenta,4 Sofia Antunes-Duarte,4 Inês Cordeiro,1,2 João E Fonseca1,2 1Rheumatology Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal; 2Rheumatology Investigation Unit, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Centro Académico de Medicina de Lisboa, Lisbon, Portugal; 3Physical Medicine and Rehabilitation Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal; 4Dermatology Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal*These authors contributed equally to this workCorrespondence: Ana Teresa Melo, Serviço de Reumatologia, Centro Hospitalar Universitário Lisboa Norte, Hospital de Santa Maria, EPE, R. Prof. Egas Moniz, Lisboa, 1700, Portugal, Tel +351 217805139, Email anateresamelo@campus.ul.ptBackground: Idiopathic inflammatory myopathies (IIM) are a rare heterogeneous group of diseases characterised by chronic skeletal muscle inflammation, but other organs are also frequently involved. IMM represent a diagnostic challenge and a multidisciplinary approach is important to ensure successful diagnosis and adequate follow-up of these patients.Objective: To describe the general functioning of our multidisciplinary myositis clinic, highlighting the benefits of multidisciplinary team management in patients with confirmed or suspected IIM and to characterise our clinical experience.Methods: Description of the organization of a dedicated multidisciplinary myositis outpatient clinic, supported by IMM specific electronic assessment tools and protocols based on our Portuguese Register - Reuma.pt. In addition, an overview of our activity between 2017 and 2022 is provided.Results: An IIM multidisciplinary care clinic, based on a close collaboration between Rheumatologists, Dermatologists and Physiatrist is detailed in this paper. One hundred and eighty-five patients were assessed in our myositis clinic; 138 (75%) of those were female, with a median age of 58 [45– 70] years. At the last appointment, 130 patients had a confirmed IIM diagnosis, and the mean disease duration was 4 [2– 6] years. The most frequent diagnosis was dermatomyositis (n = 34, 26.2%), followed by antisynthetase syndrome (n = 27, 20.8%) and clinically amyopathic/paucimyopathic dermatomyositis (n = 18, 13.8%). Twenty-four patients (18.5%) were on monotherapy and 94 (72.3%) were on combination therapy.Conclusion: A multidisciplinary approach is important to ensure the correct diagnosis and follow-up of these patients. A myositis clinic, with a standardised practice at a tertiary hospital level, contributes to a standardization of care and opens research opportunities.Keywords: inflammatory myopathies, rheumatology, dermatology, rehabilitation medicine, multidisciplinary clinic

Published
2023

2. The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases

Author

Zinterl C, Costa-Reis P, Esteves IC, Marques JG, Sousa AB, Fonseca JE, and Oliveira Ramos F

Subjects
pediatrics, rheumatology, systemic autoinflammatory syndromes, Medicine (General), R5-920
Abstract

Carolina Zinterl,1– 3 Patrícia Costa-Reis,1,4,5 Isabel Castro Esteves,5 José Gonçalo Marques,5 Ana Berta Sousa,5,6 João Eurico Fonseca,2,3 Filipa Oliveira Ramos1– 3 1Pediatric Rheumatology Unit, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal; 2Rheumatology Research Unit, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Centro Académico de Medicina de Lisboa, Lisbon, Portugal; 3Rheumatology Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal; 4Faculdade de Medicina, Universidade de Lisboa, Centro Académico de Medicina de Lisboa, Lisbon, Portugal; 5Pediatrics Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal; 6Department of Basic Immunology, Faculty of Medicine, Universidade de Lisboa, Centro Académico de Medicina de Lisboa, Lisbon, PortugalCorrespondence: Carolina Zinterl, Serviço de Reumatologia, Centro Hospitalar Lisboa Norte, Hospital de Santa Maria, EPE, R. Prof. Egas Moniz, Lisboa, 1700, Portugal, Tel +351 217805139, Email carolina.zinterl@chln.min-saude.ptBackground: Systemic autoinflammatory diseases (SAID) are characterized by inappropriate activation of the innate immune system and include not only monogenic periodic fever syndromes but also multifactorial conditions. As SAID are rare and represent a diagnostic challenge, a multidisciplinary approach is important to ensure successful diagnosis and adequate follow-up of these patients.Objective: To describe the organization of our multidisciplinary SAID clinic and to characterize our clinical experience, highlighting the benefits of multidisciplinary team management.Methods: Our SAID clinic takes place monthly and is managed by pediatric rheumatologists closely collaborating with pediatricians specialized in infectious diseases and immunodeficiencies and one medical geneticist. Patients’ data are systematically incorporated in the Rheumatic Diseases Portuguese Register (Reuma.pt). Biological samples are stored in a biobank. We describe our clinical experience based on SAID patients registered into Reuma.pt/SAID between July 2011 and June 2020.Results: We have registered 176 patients, with a median age of disease onset of 3.1 ± 4.4 years and median age at disease diagnosis of 4.7 ± 4.0 years. Most patients were diagnosed with periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA) (n=133), 20 with undefined SAID (uSAID) and 13 with monogenic SAID, including familial Mediterranean fever (FMF) (n=5), tumor necrosis factor receptor-associated periodic syndrome (TRAPS) (n=1), cryopyrin-associated periodic disease (CAPS) (n=1), and hyperimmunoglobulin D syndrome/mevalonate kinase deficiency (HIDS/MKD) (n=2). A genetic test was performed in 31 patients (18%), and in 26% of these a mutation responsible for the phenotype was found. Thirty-four patients (19%) achieved remission.Conclusion: FMF was the most common monogenic SAID and the percentage of patients with an identified causal mutation was low. A structured electronic clinical record coupled with a biobank and a multidisciplinary approach are crucial to ensure successful diagnosis and adequate follow-up of these patients.Keywords: pediatrics, rheumatology, systemic autoinflammatory syndromes

Published
2022

3. A Non-Infectious Uveitis Multidisciplinary Clinic in a Tertiary Referral Center: Clinical Impact and Added Value

Author

Leal I, Romão VC, Mano S, Khmelinskii N, Campanilho-Marques R, Ponte C, Macieira C, Oliveira-Ramos F, Vieira-Sousa E, Rosa CM, Rodrigues W, Abegão Pinto L, Marques-Neves C, and Fonseca JE

Subjects
uveitis, ophthalmology, rheumatology, Medicine (General), R5-920
Abstract

Inês Leal,1,2 Vasco C Romão,3,4 Sofia Mano,1,2 Nikita Khmelinskii,3,4 Raquel Campanilho-Marques,3,4 Cristina Ponte,3,4 Carla Macieira,3 Filipa Oliveira-Ramos,3,4 Elsa Vieira-Sousa,3,4 Carlos Miranda Rosa,3 Walter Rodrigues,1,2 Luís Abegão Pinto,1,2 Carlos Marques-Neves,1,2 João Eurico Fonseca3,4 1Ophthalmology Department, Hospital de Santa Maria, Centro Hospitalar Univeristário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal; 2Centro de Estudos das Ciências da Visão, Clínica Universitária de Oftalmologia, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; 3Rheumatology Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal; 4Rheumatology Research Unit, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, PortugalCorrespondence: Inês LealHospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte Fax +351 21 780 5653Email ines.leal@chln.min-saude.ptAbstract: Non-infectious uveitis (NIU) is a group of sight-threatening diseases that generates significant burden for the healthcare systems due to its adverse outcomes, irreversible structural complications in the eye with loss of visual function, limited clinical expertise and low-grade evidence for best practice. The usefulness of multidisciplinary care, specifically close collaboration between Rheumatologists and Ophthalmologists in NIU, has been emphasized in the literature. In this paper, the assessment tools and protocols used in our clinic are depicted and an overview of our activity with a brief description of the patients included in our registry, between 2018 and 2020 is provided. The cohort of 290 patients assessed in our NIU clinic, their demographics, sources of referral, details about immunosuppression treatment, and internal and external collaborations is described. This experience-based manuscript aims to describe the general functioning of our multidisciplinary NIU clinic, highlighting the benefits and drawbacks of multidisciplinary team management in patients with NIU, ultimately initiating a dialogue on what an NIU clinic should be and providing information for newly NIU clinics start-up. In conclusion, establishing a standardized and multidisciplinary clinic in NIU allows to systematically observe and follow-up this infrequent disease at a tertiary hospital level, thus improving quality of care delivery and research avenues.Keywords: uveitis, ophthalmology, rheumatology

Published
2021

4. Vaccine hesitancy decreases in rheumatic diseases, long-term concerns remain in myositis: a comparative analysis of the COVAD surveys

Author

Sen, P, Naveen, R, Houshmand, N, Kia, Sm, Joshi, M, Saha, S, Jagtap, K, Agarwal, V, Nune, A, Nikiphorou, E, Tan, Al, Shinjo, Sk, Ziade, N, Velikova, T, Milchert, M, Parodis, I, Gracia-Ramos, Ae, Cavagna, L, Kuwana, M, Knitza, J, Makol, A, Patel, A, Pauling, Jd, Wincup, C, Barman, B, Tehozol, Eaz, Serrano, Jr, de la Torre, I, Colunga-Pedraza, Ij, Merayo-Chalico, J, Chibuzo, Oc, Katchamart, W, Goo, Pa, Shumnalieva, R, Chen, Ym, Hoff, Ls, El Kibbi, L, Halabi, H, Vaidya, B, Shaharir, Ss, Hasan, Atmt, Dey, D, Gutierrez, Cet, Caballero-Uribe, Cv, Lilleker, Jb, Salim, B, Gheita, T, Chatterjee, T, Distler, O, Saavedra, Ma, Day, J, Chinoy, H, COVAD Study Grp, Kardes, S, Kardes, Sa, Andreoli, L, Lini, D, Screiber, K, Vince, Mn, Singh, Yp, Ranjan, R, Jain, A, Pandya, Sc, Pilania, Rk, Sharma, A, Manoj, Mm, Gupta, V, Kavadichanda, Cg, Patro, Ps, Ajmani, S, Phatak, S, Goswami, Rp, Chowdhury, Ac, Mathew, Aj, Shenoy, P, Asranna, A, Bommakanti, Kt, Shukla, A, Pande, Ar, Chandwar, K, Ghodke, A, Boro, H, Fazal, Zz, Cansu, Du, Yildirim, R, Gasparyan, Ay, Del Papa, N, Sambataro, G, Fabiola, A, Govoni, M, Parisi, S, Bocci, Eb, Sebastiani, Gd, Fusaro, E, Sebastiani, M, Quartuccio, L, Franceschini, F, Sainaghi, Pp, Orsolini, G, De Angelis, R, Danielli, Mg, Venerito, V, Grignaschi, S, Giollo, A, Alluno, A, Ioannone, F, Fornaro, M, Traboco, Ls, Wibowo, Sak, Loarce-Martos, J, Prieto-Gonzalez, S, Gonzalez, Ra, Yoshida, A, Nakashima, R, Sato, S, Kimura, N, Kaneko, Y, Gono, T, Tomaras, S, Proft, Fn, Holzer, Mt, Gromova, Ma, Aharonov, O, Griger, Z, Hmamouchi, I, El Bouchti, I, Baba, Z, Giannini, M, Maurier, F, Campagne, J, Meyer, A, Langguth, D, Limaye, V, Needham, M, Srivastav, N, Hudson, M, Landon-Cardinal, O, Zuleta, Wgr, Arbelaez, A, Cajas, J, Silva, Jap, Fonseca, Je, Zimba, O, Bohdana, D, Ima-Edomwonyi, U, Dedeke, I, Airenakho, E, Madu, Nh, Yerima, A, Olaosebikan, H, Becky, A, Koussougbo, Od, Palalane, E, So, H, Ugarte-Gil, Mf, Chinchay, L, Bernaola, Jp, Pimentel, V, Fathi, Hm, Mohammed, Rha, Harifi, G, Fuentes-Silva, Y, Cabriza, K, Losanto, J, Colaman, N, Cachafeiro-Vilar, A, Bautista, Gg, Ejg, Ho, Gonzalez, R, Nunez, Ls, Vergara, Mc, Baez, Jt, Alonzo, H, Pastelin, Cbs, Salinas, Rg, Obiols, Aq, Chavez, N, Ordonez, Ab, Argueta, S, Llerena, Gar, Sierra-Zorita, R, Arrieta, D, Hidalgo, Er, Saenz, R, Escalante, Mi, Morales, R, Calapaqui, W, Quezada, I, Arredondo, G, Aggarwal, R, and Gupta, L

Subjects
Rheumatology, idiopathic inflammatory myopathies, COVID-19 vaccines, vaccine hesitancy, registries, Pharmacology (medical), autoimmune disease
Abstract

ObjectiveCOVID-19 vaccines have a favorable safety profile in patients with autoimmune rheumatic diseases (AIRDs) such as idiopathic inflammatory myopathies (IIMs); however, hesitancy continues to persist among these patients. Therefore, we studied the prevalence, predictors and reasons for hesitancy in patients with IIMs, other AIRDs, non-rheumatic autoimmune diseases (nrAIDs) and healthy controls (HCs), using data from the two international COVID-19 Vaccination in Autoimmune Diseases (COVAD) e-surveys.MethodsThe first and second COVAD patient self-reported e-surveys were circulated from March to December 2021, and February to June 2022 (ongoing). We collected data on demographics, comorbidities, COVID-19 infection and vaccination history, reasons for hesitancy, and patient reported outcomes. Predictors of hesitancy were analysed using regression models in different groups.ResultsWe analysed data from 18 882 (COVAD-1) and 7666 (COVAD-2) respondents. Reassuringly, hesitancy decreased from 2021 (16.5%) to 2022 (5.1%) (OR: 0.26; 95% CI: 0.24, 0.30, P ConclusionVaccine hesitancy has decreased from 2021 to 2022, long-term safety concerns remain among patients with IIMs, particularly in Caucasians and those with poor physical function.

Published
2023

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

Author

Gil‐vila, A, Naveen, R, Selva‐o'Callaghan, A, Sen, P, Nune, A, Gaur, Ps, Gonzalez, Ra, Lilleker, Jb, Joshi, M, Agarwal, V, Kardes, S, Kim, M, Day, J, Makol, A, Milchert, M, Gheita, T, Salim, B, Velikova, T, Gracia‐ramos, Ae, Parodis, I, Nikiphorou, E, Tan, Al, Chatterjee, T, Cavagna, L, Saavedra, Ma, Shinjo, S, Katsuyuki, Zn, Knitza, J, Kuwana, M, Distler, O, Chinoy, H, Aggarwal, R, Gupta, L, Barman, B, Singh, Yp, Ranjan, R, Jain, A, Pandya, Sc, Pilania, Rk, Sharma, A, Manesh, Mm, Gupta, V, Kavadichanda, Cg, Patro, Ps, Ajmani, S, Phatak, S, Goswami, Rp, Chowdhury, Ac, Mathew, Aj, Shenoy, P, Asranna, A, Bommakanti, Kt, Shukla, A, Pandey, Akr, Chandwar, K, Cansu, Dü, Pauling, Jd, Wincup, C, Del Papa, N, Sambataro, G, Atzeni, F, Govoni, M, Parisi, S, Bocci Bartoloni, E, Sebastiani, Gd, Fusaro, E, Sebastiani, M, Quartuccio, L, Franceschini, F, Sainaghi, Pp, Orsolini, G, De Angelis, R, Danielli, Mg, Venerito, V, Traboco, Ls, Wibowo, Sak, Tehozol, Eaz, Serrano, Jr, García‐De La Torre, I, Loarce‐martos, J, Prieto‐gonzález, S, Yoshida, A, Nakashima, R, Sato, S, Kimura, N, Kaneko, Y, Tomaras, S, Gromova, Ma, Aharonov, Om, Hmamouchi, I, Hoff, Ls, Giannini, M, Maurier, F, Campagne, J, Meyer, A, Nagy‐vincze, M, Langguth, D, Limaye, V, Needham, M, Srivastav, N, Hudson, M, Landon‐cardinal, O, Shaharir, Ss, Zuleta, Wgr, Silva, Jap, Fonseca, Je, Zimba, O, Institut Català de la Salut, [Gil-Vila A, Selva-O'Callaghan A] Unitat d’Inflamació i Autoimmunitat, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Departament de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Ravichandran N] Department of Clinical Immunology and Rheumatology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. [Sen P] Maulana Azad Medical College, Delhi, India. [Nune A] Southport and Ormskirk Hospital NHS Trust, Southport, UK. [Gaur PS] Smt. Kashibai Navale Medical and General Hospital, Pune, India, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Adult, Male, COVID-19 Vaccines, dermatomyositis, Physiology, Simian Acquired Immunodeficiency Syndrome, rheumatology, Keywords: COVID-19, Otros calificadores::Otros calificadores::/efectos adversos [Otros calificadores], Autoimmune Diseases, Myositis, Inclusion Body, Cellular and Molecular Neuroscience, Physiology (medical), Therapeutics::Biological Therapy::Immunomodulation::Immunotherapy::Immunization::Immunotherapy, Active::Vaccination [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Other subheadings::Other subheadings::/adverse effects [Other subheadings], virosis::infecciones por virus ARN::infecciones por Nidovirales::infecciones por Coronaviridae::infecciones por Coronavirus [ENFERMEDADES], Animals, Humans, BNT162 Vaccine, enfermedades musculoesqueléticas::enfermedades musculares::miositis [ENFERMEDADES], Malalties autoimmunitàries, Immune System Diseases::Autoimmune Diseases [DISEASES], enfermedades del sistema inmune::enfermedades autoinmunes [ENFERMEDADES], COVID-19, Immunoglobulins, Intravenous, Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [DISEASES], myositis, vaccination, Exanthema, Musculoskeletal Diseases::Muscular Diseases::Myositis [DISEASES], Inflamació, terapéutica::terapia biológica::inmunomodulación::inmunoterapia::inmunización::inmunoterapia activa::vacunación [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Female, Neurology (clinical), COVID-19 (Malaltia) - Vacunació, Hydroxychloroquine
Abstract

COVID-19; Dermatomyositis; Vaccination COVID-19; Dermatomiositis; Vacunación COVID-19; Dermatomiositis; Vacunació Introduction/Aims In this study we investigated COVID-19 vaccination–related adverse events (ADEs) 7 days postvaccination in patients with idiopathic inflammatory myopathies (IIMs) and other systemic autoimmune and inflammatory disorders (SAIDs). Methods Seven-day vaccine ADEs were collected in an international patient self-reported e-survey. Descriptive statistics were obtained and multivariable regression was performed. Results Ten thousand nine hundred respondents were analyzed (1227 IIM cases, 4640 SAID cases, and 5033 healthy controls [HCs]; median age, 42 [interquartile range, 30-455] years; 74% female; 45% Caucasian; 69% completely vaccinated). Major ADEs were reported by 76.3% of the IIM patients and 4.6% reported major ADEs. Patients with active IIMs reported more frequent major (odds ratio [OR], 2.7; interquartile range [IQR], 1.04-7.3) and minor (OR, 1.5; IQR, 1.1-2.2) ADEs than patients with inactive IIMs. Rashes were more frequent in IIMs (OR, 2.3; IQR, 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; IQR, 1.1-3.3; and OR, 2.2; IQR, 1.1-4.3, respectively). Overall, ADEs were less frequent in inclusion-body myositis (IBM) and BNT162b2 (Pfizer) vaccine recipients. Discussion Seven-day postvaccination ADEs were comparable in patients with IIMs, SAIDs, and HCs, except for a higher risk of rash in IIMs. Patients with dermatomyositis with active disease may be at higher risk, and IBM patients may be 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, specifically in those with IIMs. Studies to evaluate long-term outcomes and disease flares are needed to shed more light on developing future COVID-19 vaccination guidelines. National Institution for Health Research Manchester Biomedical Research Centre (to H.C.).

Published
2022

10. The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET

Author

Talarico, R, Aguilera, S, Alexander, T, Amoura, Z, Antunes, AMC, Arnaud, L, Avcin, T, Beretta, L, Bombardieri, S, Burmester, GR, Cannizzo, S, Cavagna, L, Chaigne, B, Cornet, A, Costedoat-Chalumeau, N, Doria, A, Ferraris, A, Fischer-Betz, R, Fonseca, JE, Frank, C, Gaglioti, A, Galetti, I, Grunert, J, Guimaraes, V, Hachulla, E, Houssiau, F, Iaccarino, L, Krieg, T, Limper, M, Malfait, F, Mariette, X, Marinello, D, Martin, T, Matthews, L, Matucci-Cerinic, M, Meyer, A, Montecucco, C, Mouthon, L, Muller-Ladner, U, Rednic, S, Romao, VC, Schneider, M, Smith, V, Sulli, A, Tamirou, F, Taruscio, D, Taulaigo, AV, Terol, E, Tincani, A, Ticciati, S, Turchetti, G, van Hagen, P.M., van Laar, JM, Vieira, A, de Vries-Bouwstra, JK, Cutolo, M, Mosca, M, Talarico, R, Aguilera, S, Alexander, T, Amoura, Z, Antunes, AMC, Arnaud, L, Avcin, T, Beretta, L, Bombardieri, S, Burmester, GR, Cannizzo, S, Cavagna, L, Chaigne, B, Cornet, A, Costedoat-Chalumeau, N, Doria, A, Ferraris, A, Fischer-Betz, R, Fonseca, JE, Frank, C, Gaglioti, A, Galetti, I, Grunert, J, Guimaraes, V, Hachulla, E, Houssiau, F, Iaccarino, L, Krieg, T, Limper, M, Malfait, F, Mariette, X, Marinello, D, Martin, T, Matthews, L, Matucci-Cerinic, M, Meyer, A, Montecucco, C, Mouthon, L, Muller-Ladner, U, Rednic, S, Romao, VC, Schneider, M, Smith, V, Sulli, A, Tamirou, F, Taruscio, D, Taulaigo, AV, Terol, E, Tincani, A, Ticciati, S, Turchetti, G, van Hagen, P.M., van Laar, JM, Vieira, A, de Vries-Bouwstra, JK, Cutolo, M, and Mosca, M

Abstract

During the COVID-19 pandemic, the need to provide high-level care for a large number of patients with COVID-19 has affected resourcing for, and limited the routine care of, all other conditions. The impact of this health emergency is particularly relevant in the rare connective tissue diseases (rCTDs) communities, as discussed in this Perspective article by the multi-stakeholder European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET). The clinical, organizational and health economic challenges faced by health-care providers, institutions, patients and their families during the SARS-CoV-2 outbreak have demonstrated the importance of ensuring continuity of care in the management of rCTDs, including adequate diagnostics and monitoring protocols, and highlighted the need for a structured emergency strategy. The vulnerability of patients with rCTDs needs to be taken into account when planning future health policies, in preparation for not only the post-COVID era, but also any possible new health emergencies.

Published
2021

11. Remission and low disease activity matrix tools: results in real-world rheumatoid arthritis patients under anti-TNF therapy

Author

Ganhão, S, Lucas, R, Fonseca, JE, Santos, MJ, Gonçalves, DR, Madeira, N, Silva, C, Dourado, E, Freitas, R, Rodrigues, J, Azevedo, S, Rocha, TM, Ferreira, RM, Garcia, S, Fernandes, BM, Prata, AR, Couto, M, Torres, RP, Cunha, and Instituto de Saúde Pública da Universidade do Porto

Subjects
Rheumatoid Arthritis, Remission, Low disease Activity, Anti-TNF therapy, Matrix tools
Abstract

Background: Remission/ low disease activity (LDA) are the main treatment goals in rheumatoid arthritis (RA) patients. Two tools showing the ability to predict golimumab treatment outcomes in patients with RA were published. Objectives: To estimate the real-world accuracy of two quantitative tools created to predict RA remission and low disease activity. Methods: Multicenter, observational study, using data from the Rheumatic Diseases Portuguese Register (Reuma.pt), including biologic naïve RA patients who started an anti-TNF as first-line biologic and with at least 6 months of follow-up. The accuracy of two matrices tools was assessed by likelihood-ratios (LR), sensitivity (SN), specificity (SP), positive predictive value (PPV), negative predictive value (NPV) and area under the ROC curve (AUC). Results: 674 RA patients under first-line anti-TNF (266 etanercept, 186 infliximab, 131 adalimumab, 85 golimumab, 6 certolizumab pegol) were included. The median (IQR) age was 53.4 (44.7-61.1) years and the median disease duration was 7.7 (3.7-14.6) years. The majority were female (72%). Most patients were RF and/or ACPA positive (75.5%) and had erosive disease (54.9%); 58.6% had comorbidities. At 6-months, 157 (23.3%) patients achieved remission (DAS28 ESR < 2.6) and 269 (39.9%) LDA (DAS28 ESR ≤ 3.2). Area under the curve for remission in this real-world sample was 0.756 [IC 95% (0.713-0.799)] and for LDA was 0.724 [IC 95% (0.686 -0.763)]. The highest LR (8.23) for remission state was obtained at a cut-off ≥ 67%, with high specificity (SP) (99.6%) but low sensitivity (SN) (3.2%). A better balance of SN and SP (65.6% and 73.9%, respectively) was observed for a cut-off >30%, with a LR of 2.51, PPV of 43.3% and NPV of 87.6%. Conclusion: In this population, the accuracy of the prediction tool was good for remission and LDA. Our results corroborate the idea that these matrix tools could be helpful to select patients for anti-TNF therapy.

Published
2020

14. Antigenic response to CT-P13 and remicade in inflammatory bowel disease patients shows similar epitope recognition

Author

Goncalves J, Santos M, Acurcio R, Iria I, Gouveia L, Brito P, Santos ACC, Barbas A, Galvao J, Barbosa I, da Silva FA, Alcobia A, Cavaco M, Cardoso M, Alves JD, Carey J, Dorner T, Fonseca JE, Palmela C, Torres J, Vieira CL, Trabuco D, Fiorino G, Strik A, Yavzori M, Rosa I, Correia L, Magro F, D'Haens G, Ben-Horin S, Lakatos P, Danese S, Goncalves, J, Santos, M, Acurcio, R, Iria, I, Gouveia, L, Brito, P, Santos, Acc, Barbas, A, Galvao, J, Barbosa, I, da Silva, Fa, Alcobia, A, Cavaco, M, Cardoso, M, Alves, Jd, Carey, J, Dorner, T, Fonseca, Je, Palmela, C, Torres, J, Vieira, Cl, Trabuco, D, Fiorino, G, Strik, A, Yavzori, M, Rosa, I, Correia, L, Magro, F, D'Haens, G, Ben-Horin, S, Lakatos, P, and Danese, S

Published
2018

15. Anti-TNF Drugs for Chronic Uveitis in Adults-A Systematic Review and Meta-Analysis of Randomized Controlled Trials

Author

Leal, I, Rodrigues, FB, Sousa, DC, Duarte, GS, Romao, VC, Marques-Neves, C, Costa, J, Fonseca, JE, Leal, I, Rodrigues, FB, Sousa, DC, Duarte, GS, Romao, VC, Marques-Neves, C, Costa, J, and Fonseca, JE

Abstract

Background: We aimed to assess efficacy and safety of anti-tumor necrosis factor (TNF) drugs for adult chronic non-infectious uveitis (NIU). Methods: CENTRAL, MEDLINE, and EMBASE, were searched from inception to January 2019. Double-masked randomized placebo-controlled trials, assessing any anti-TNF vs. best medical intervention/standard of care in adults with chronic NIU were considered. The PRISMA and SAMPL guidelines were followed. The risk of bias was assessed using the Cochrane risk of bias tool. Overall quality of the evidence was assessed according to GRADE. PROSPERO registration: #CRD42016039068. The primary efficacy and safety outcomes were preservation of visual acuity (VA) and withdrawals due to adverse events, respectively. Meta-analysis of efficacy analysis was not performed due to significant clinical heterogeneity between studies' population and interventions. Results: A total of 1,157 references were considered and 3 studies were included. The overall risk of bias was moderate. In active NIU, adalimumab group showed an increased likelihood of VA preservation (risk ratio (RR) 1.75, 95%CI 1.32 to 2.32, n = 217), whereas the etanercept group did not (RR 0.81, 95%CI 0.57 to 1.14, n = 20). In inactive NIU, adalimumab was associated with increased likelihood of VA preservation (RR 1.31, 95%CI 1.12 to 1.53, n = 226). The rate of adverse events did not differ between anti-TNF and control arms (RR 1.03, 95%CI 0.94 to 1.13, n = 410). Conclusions: There is high quality evidence that adalimumab decreases the risk of worsening VA in active and inactive NIU and very low quality evidence that the risk of etanercept worsening VA in inactive NIU is not different from placebo. Moderate quality evidence suggests that anti-TNF agents are not different from placebo on the risk of study withdrawal.

Published
2019

16. The GO-DACT is an investigator-initiated, national, multicentric randomized placebo-controlled double-blinded trial, that assesses dactylitis as primary endpoint. Psoriatic arthritis patients naïve to methotrexate and biologic disease modifying anti-rheumatic drugs, with at least one active dactylitis, were assigned to golimumab in combination with methotrexate or placebo in combination with methotrexate, for 24 weeks. Both clinical (dactylitis severity score and the Leeds dactylitis index) and imaging (high resolution magnetic resonance imaging), among others, were assessed as outcomes. The main objective of GO-DACT is to provide evidence to improve the treatment algorithm and care of psoriatic arthritis patients with active dactylitis. In this manuscript we describe the GO-DACT protocol and general concepts of the methodology of this trial

Author

Vieira-Sousa, E, Canhão, H, Alves, P, Rodrigues, AM, Teixeira, F, Tavares-Costa, J, Bernardo, A, Pimenta, S, Pimentel-Santos, ., Gomes, JL, Aguiar, R, Videira, T., Pinto, P, Catita, C, Santos, H, Borges, J., Sequeira, G., Ribeiro, C., Teixeira, L., Ávila-Ribeiro, P, Martins, FM, Ribeiro, RM, and Fonseca, JE

Subjects
Treatment Algorithm, Psoriatic Arthritis, Dactylitis
Abstract

The GO-DACT is an investigator-initiated, national, multicentric randomized placebo-controlled double-blinded trial, that assesses dactylitis as primary endpoint. Psoriatic arthritis patients naïve to methotrexate and biologic disease modifying anti-rheumatic drugs, with at least one active dactylitis, were assigned to golimumab in combination with methotrexate or placebo in combination with methotrexate, for 24 weeks. Both clinical (dactylitis severity score and the Leeds dactylitis index) and imaging (high resolution magnetic resonance imaging), among others, were assessed as outcomes. The main objective of GO-DACT is to provide evidence to improve the treatment algorithm and care of psoriatic arthritis patients with active dactylitis. In this manuscript we describe the GO-DACT protocol and general concepts of the methodology of this trial. info:eu-repo/semantics/publishedVersion

Published
2018

19. AB0581 Two years existence of reuma.pt/vasculitis – the portuguese registry of vasculitis

Author

Khmelinskii, N, primary, Ponte, C, additional, Peixoto, D, additional, Rodrigues, M, additional, Teixeira, L, additional, Sousa, S, additional, Aleixo, J, additional, Pedrosa, T, additional, Serra, S, additional, Castelão, W, additional, Cordeiro, A, additional, Cordeiro, I, additional, Fernandes, S, additional, Macieira, C, additional, Madureira, P, additional, Malcata, A, additional, Teixeira, V, additional, Vieira, R, additional, Eusébio, M, additional, Martins, F, additional, Sequeira, G, additional, Branco, J, additional, Costa, L, additional, Silva, J Canas da, additional, Silva, JA Pereira da, additional, Afonso, C, additional, Fonseca, JE, additional, Canhão, H, additional, Luqmani, RA, additional, and Santos, MJ, additional

Published
2017
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24. Using the Juvenile Arthritis Disease Activity Score based on erythrocyte sedimentation rate or C-reactive protein level: results from the Portuguese register

Author

Mourão, AF, Santos, MJ, Melo-Gomes, J, Martins, FM, Costa, JA, Ramos, F, Brito, I, Duarte, C, Figueira, R, Figueiredo, G, Furtado, C, Lopes, A, Oliveira, M, Rodrigues, A, Salgado, M, Sousa, M, Branco, J, Fonseca, JE, and Canhão, H

Subjects
musculoskeletal diseases, Biomarcadores, Proteína C-Reactiva, Mediadores da Inflamação, Articulações, skin and connective tissue diseases, Artrite Juvenile, Adolescente
Abstract

Our aims were to evaluate the correlation between Juvenile Arthritis Disease Activity Score 27-joint reduced count (JADAS27) with erythrocyte sedimentation rate (ESR) and JADAS27 with C-reactive protein (CRP) scores and to test the agreement of both scores on classifying each disease activity state. We also aimed at verifying the correlation of the 2 scores across juvenile idiopathic arthritis (JIA) categories and to check the correlation between JADAS27-ESR and clinical JADAS27 (JADAS27 without ESR).

Published
2014

28. Integration of sequence data from a consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene

Author

Okada, Y, Diogo, D, Greenberg, JD, Mouassess, F, Achkar, WAL, Fulton, RS, Denny, JC, Gupta, N, Mirel, D, Gabriel, S, Li, G, Kremer, JM, Pappas, DA, Carroll, RJ, Eyler, AE, Trynka, G, Stahl, EA, Cui, J, Saxena, R, Coenen, MJH, Guchelaar, HJ, Huizinga, TWJ, Dieudé, P, Mariette, X, Barton, A, Canhão, H, Fonseca, JE, De Vries, N, Tak, PP, Moreland, LW, Bridges, SL, Miceli-Richard, C, Choi, HK, Kamatani, Y, Galan, P, Lathrop, M, Raj, T, De Jager, PL, Raychaudhuri, S, Worthington, J, Padyukov, L, Klareskog, L, Siminovitch, KA, Gregersen, PK, Mardis, ER, Arayssi, T, Kazkaz, LA, Plenge, RM, Okada, Y, Diogo, D, Greenberg, JD, Mouassess, F, Achkar, WAL, Fulton, RS, Denny, JC, Gupta, N, Mirel, D, Gabriel, S, Li, G, Kremer, JM, Pappas, DA, Carroll, RJ, Eyler, AE, Trynka, G, Stahl, EA, Cui, J, Saxena, R, Coenen, MJH, Guchelaar, HJ, Huizinga, TWJ, Dieudé, P, Mariette, X, Barton, A, Canhão, H, Fonseca, JE, De Vries, N, Tak, PP, Moreland, LW, Bridges, SL, Miceli-Richard, C, Choi, HK, Kamatani, Y, Galan, P, Lathrop, M, Raj, T, De Jager, PL, Raychaudhuri, S, Worthington, J, Padyukov, L, Klareskog, L, Siminovitch, KA, Gregersen, PK, Mardis, ER, Arayssi, T, Kazkaz, LA, and Plenge, RM

Abstract

Integrating genetic data from families with highly penetrant forms of disease together with genetic data from outbred populations represents a promising strategy to uncover the complete frequency spectrum of risk alleles for complex traits such as rheumatoid arthritis (RA). Here, we demonstrate that rare, low-frequency and common alleles at one gene locus, phospholipase B1 (PLB1), might contribute to risk of RA in a 4-generation consanguineous pedigree (Middle Eastern ancestry) and also in unrelated individuals from the general population (European ancestry). Through identity-by-descent (IBD) mapping and whole-exome sequencing, we identified a non-synonymous c.2263G>C (p.G755R) mutation at the PLB1 gene on 2q23, which significantly co-segregated with RA in family members with a dominant mode of inheritance (P = 0.009). We further evaluated PLB1 variants and risk of RA using a GWAS meta-analysis of 8,875 RA cases and 29,367 controls of European ancestry. We identified significant contributions of two independent non-coding variants near PLB1 with risk of RA (rs116018341 [MAF = 0.042] and rs116541814 [MAF = 0.021], combined P = 3.2×10-6). Finally, we performed deep exon sequencing of PLB1 in 1,088 RA cases and 1,088 controls (European ancestry), and identified suggestive dispersion of rare protein-coding variant frequencies between cases and controls (P = 0.049 for C-alpha test and P = 0.055 for SKAT). Together, these data suggest that PLB1 is a candidate risk gene for RA. Future studies to characterize the full spectrum of genetic risk in the PLB1 genetic locus are warranted. © 2014 Plenge et al.

Published
2014

29. The EULAR Study Group for Registers and Observational Drug Studies: comparability of the patient case mix in the European biologic disease modifying anti-rheumatic drug registers

Author

Kearsley Fleet, L, Závada, J, Hetland, Ml, Nordström, Dc, Aaltonen, Kj, Listing, J, Zink, A, Gati, T, Rojkovich, B, Iannone, F, Gremese, Elisa, Van Riel, Plcm, Van De Laar, Mafj, Lie, E, Kvien, Tk, Canhão, H, Fonseca, Je, Rotar, Z, Loza, E, Carmona, L, Askling, J, Johansson, K, Finckh, A, Dixon, Wg, Hyrich, Kl, Gremese, Elisa (ORCID:0000-0002-2248-1058), Kearsley Fleet, L, Závada, J, Hetland, Ml, Nordström, Dc, Aaltonen, Kj, Listing, J, Zink, A, Gati, T, Rojkovich, B, Iannone, F, Gremese, Elisa, Van Riel, Plcm, Van De Laar, Mafj, Lie, E, Kvien, Tk, Canhão, H, Fonseca, Je, Rotar, Z, Loza, E, Carmona, L, Askling, J, Johansson, K, Finckh, A, Dixon, Wg, Hyrich, Kl, and Gremese, Elisa (ORCID:0000-0002-2248-1058)

Abstract

Under the auspices of the European League Against Rheumatism (EULAR), a study group of investigators representing European biologic DMARD (bDMARD) registers was convened. The purpose of this initial assessment was to collect and compare a cross section of patient characteristics and collate information on the availability of potential confounders within these registers.

Published
2014

30. Recomendações Portuguesas para utilização de Metotrexato no tratamento de doenças reumáticas

Author

Canhão, H, Santos, MJ, Costa, L, Bogas, M, Mourão, AF, Machado, P, Fonseca, JE, and Pereira da Silva, JA

Subjects
musculoskeletal diseases, Doenças Reumáticas, skin and connective tissue diseases, Metotrexato
Abstract

OBJECTIVES: To develop Portuguese evidence-based recommendations for the use of methotrexate (MTX) in daily clinical practice in rheumatic disorders. METHODS: The Portuguese project was integrated in the multinational 3E Initiative (Evidence, Expertise, Exchange) 2007-2008 where a total of 751 rheumatologists from 17 countries have participated. Ten clinical questions concerning the use of MTX in rheumatic diseases were formulated and the Portuguese group added three more questions. A systematic literature search in Medline, Embase, Cochrane Library and 2005-2007 ACR/EULAR meeting abstracts was conducted. Selected articles were systematically reviewed and the evidence was appraised according to the Oxford Levels of Evidence. In Portugal, a national meeting was held in Obidos on February 15th and 16th, 2008, involving 50 rheumatologists who discussed and voted by Dephi method the recommendations. Finally, the agreement among the rheumatologists and the potential impact on their clinical practice was assessed. RESULTS: Thirteen national key recommendations on the use of MTX were formulated: work-up before starting MTX, optimal dosage and route of administration, use of folic acid, monitoring, management of hepatotoxicity, long-term safety, mono versus combination therapy, management in the peri-operative period, during infections, before/during pregnancy and after clinical remission, screening and treatment of tuberculosis and the role of MTX as a steroid-sparing agent in rheumatic diseases. DISCUSSION: The Portuguese recommendations for the use of MTX in daily clinical practice were developed, which are evidence-based and supported by a panel of 50 rheumatologists, enhancing their validity and practical use. This project was integrated in a multinational initiative that led to the recent publication of ten multinational recommendations which differ from ours in some specific aspects.

Published
2009

33. Genome-Wide Association Study and Gene Expression Analysis Identifies CD84 as a Predictor of Response to Etanercept Therapy in Rheumatoid Arthritis

Author

Cui, J, Stahl, EA, Saevarsdottir, S, Miceli, C, Diogo, D, Trynka, G, Raj, T, Mirkov, MU, Canhao, H, Ikari, K, Terao, C, Okada, Y, Wedrén, S, Askling, J, Yamanaka, H, Momohara, S, Taniguchi, A, Ohmura, K, Matsuda, F, Mimori, T, Gupta, N, Kuchroo, M, Morgan, AW, Isaacs, JD, Wilson, AG, Hyrich, KL, Herenius, M, Doorenspleet, ME, Tak, PP, Crusius, JBA, van der Horst-Bruinsma, IE, Wolbink, GJ, van Riel, PLCM, van de Laar, M, Guchelaar, HJ, Shadick, NA, Allaart, CF, Huizinga, TWJ, Toes, REM, Kimberly, RP, Bridges, SL, Criswell, LA, Moreland, LW, Fonseca, JE, de Vries, N, Stranger, BE, De Jager, PL, Raychaudhuri, S, Weinblatt, ME, Gregersen, PK, Mariette, X, Barton, A, Padyukov, L, Coenen, MJH, Karlson, EW, Plenge, RM, Cui, J, Stahl, EA, Saevarsdottir, S, Miceli, C, Diogo, D, Trynka, G, Raj, T, Mirkov, MU, Canhao, H, Ikari, K, Terao, C, Okada, Y, Wedrén, S, Askling, J, Yamanaka, H, Momohara, S, Taniguchi, A, Ohmura, K, Matsuda, F, Mimori, T, Gupta, N, Kuchroo, M, Morgan, AW, Isaacs, JD, Wilson, AG, Hyrich, KL, Herenius, M, Doorenspleet, ME, Tak, PP, Crusius, JBA, van der Horst-Bruinsma, IE, Wolbink, GJ, van Riel, PLCM, van de Laar, M, Guchelaar, HJ, Shadick, NA, Allaart, CF, Huizinga, TWJ, Toes, REM, Kimberly, RP, Bridges, SL, Criswell, LA, Moreland, LW, Fonseca, JE, de Vries, N, Stranger, BE, De Jager, PL, Raychaudhuri, S, Weinblatt, ME, Gregersen, PK, Mariette, X, Barton, A, Padyukov, L, Coenen, MJH, Karlson, EW, and Plenge, RM

Abstract

Anti-tumor necrosis factor alpha (anti-TNF) biologic therapy is a widely used treatment for rheumatoid arthritis (RA). It is unknown why some RA patients fail to respond adequately to anti-TNF therapy, which limits the development of clinical biomarkers to predict response or new drugs to target refractory cases. To understand the biological basis of response to anti-TNF therapy, we conducted a genome-wide association study (GWAS) meta-analysis of more than 2 million common variants in 2,706 RA patients from 13 different collections. Patients were treated with one of three anti-TNF medications: etanercept (n = 733), infliximab (n = 894), or adalimumab (n = 1,071). We identified a SNP (rs6427528) at the 1q23 locus that was associated with change in disease activity score (ΔDAS) in the etanercept subset of patients (P = 8×10-8), but not in the infliximab or adalimumab subsets (P>0.05). The SNP is predicted to disrupt transcription factor binding site motifs in the 3′ UTR of an immune-related gene, CD84, and the allele associated with better response to etanercept was associated with higher CD84 gene expression in peripheral blood mononuclear cells (P = 1×10-11 in 228 non-RA patients and P = 0.004 in 132 RA patients). Consistent with the genetic findings, higher CD84 gene expression correlated with lower cross-sectional DAS (P = 0.02, n = 210) and showed a non-significant trend for better ΔDAS in a subset of RA patients with gene expression data (n = 31, etanercept-treated). A small, multi-ethnic replication showed a non-significant trend towards an association among etanercept-treated RA patients of Portuguese ancestry (n = 139, P = 0.4), but no association among patients of Japanese ancestry (n = 151, P = 0.8). Our study demonstrates that an allele associated with response to etanercept therapy is also associated with CD84 gene expression, and further that CD84 expression correlates with disease activity. These findings support a model in which CD84 genotypes and/or

Published
2013

46. A demographic study of spinal cord injured veterans

Author

Tsou, Fonseca Je, Copperthite A, and Stripling T

Subjects
Gerontology, Adult, Male, business.industry, Hospitals, Veterans, Demographic study, General Medicine, Middle Aged, Spinal cord, humanities, United States, medicine.anatomical_structure, Ethnicity, Medicine, Humans, Female, business, health care economics and organizations, Spinal Cord Injuries, Aged, Demography, Information Systems, Veterans
Abstract

These demographic characteristics are not absolute. They do, however, represent general trends for those SCI veterans identified by the PTF as utilizing the VAMCs. The typical SCI veteran described from this limited data base would be over 50 years old but possibly under age 65; the veteran would be a Caucasian male who served in World War II; currently he resides in a state with a large SCI center likely in the "sun belt" region of the country; and, this veteran is a nonservice connected paraplegic due to traumatic circumstances.

Published
1983

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