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5. Defining anti-synthetase syndrome: a systematic literature review

Author

Zanframundo, G, Faghihi-Kashani, S, Scire, C, Bonella, F, Corte, T, Doyle, T, Fiorentino, D, Gonzalez-Gay, M, Hudson, M, Kuwana, M, Lundberg, I, Mammen, A, Mchugh, N, Miller, F, Monteccucco, C, Oddis, C, Rojas-Serrano, J, Schmidt, J, Selva-O'Callaghan, A, Werth, V, Sakellariou, G, Aggarwal, R, Cavagna, L, Zanframundo G., Faghihi-Kashani S., Scire C. A., Bonella F., Corte T. J., Doyle T. J., Fiorentino D., Gonzalez-Gay M. A., Hudson M., Kuwana M., Lundberg I. E., Mammen A., McHugh N., Miller F. W., Monteccucco C., Oddis C. V., Rojas-Serrano J., Schmidt J., Selva-O'Callaghan A., Werth V. P., Sakellariou G., Aggarwal R., Cavagna L., Zanframundo, G, Faghihi-Kashani, S, Scire, C, Bonella, F, Corte, T, Doyle, T, Fiorentino, D, Gonzalez-Gay, M, Hudson, M, Kuwana, M, Lundberg, I, Mammen, A, Mchugh, N, Miller, F, Monteccucco, C, Oddis, C, Rojas-Serrano, J, Schmidt, J, Selva-O'Callaghan, A, Werth, V, Sakellariou, G, Aggarwal, R, Cavagna, L, Zanframundo G., Faghihi-Kashani S., Scire C. A., Bonella F., Corte T. J., Doyle T. J., Fiorentino D., Gonzalez-Gay M. A., Hudson M., Kuwana M., Lundberg I. E., Mammen A., McHugh N., Miller F. W., Monteccucco C., Oddis C. V., Rojas-Serrano J., Schmidt J., Selva-O'Callaghan A., Werth V. P., Sakellariou G., Aggarwal R., and Cavagna L.

Abstract

Anti-synthetase syndrome (ASSD) is a heterogeneous autoimmune disease characterised by multi-system involvement with a wide variety of manifestations. Validated classification criteria are necessary to improve recognition and prevent misclassification, especially given the lack of reliable and standardised autoantibody testing. We systematically reviewed the literature to analyse proposed ASSD criteria, characteristics, and diagnostic performance. Methods We searched PubMed and Embase databases (01/01/1984 to 06/11/2018) and the ACR and EULAR meeting abstracts (2017-2018). Sensitivities, specificities, positive, negative likelihood ratios and risk of bias were calculated for ASSD criteria and key variables reported in the literature. We performed meta-analysis when appropriate. Results We retrieved 4,358 studies. We found 85 proposed ASSD criteria from a total of 82 studies. All but one study included anti-synthetase autoantibody (ARS) positivity in the ASSD criteria. Most studies required only one ASSD feature plus anti-ARS to define ASSD (n=64, 78%), whereas 16 studies required more than one ASSD variable plus anti-ARS. The only criteria not including anti-ARS positivity required 5 ASSD clinical features. We found limited data and wide variability in the diagnostic performance of each variable and definition proposed in the literature. Given these limitations we only meta-analysed the performance of individual muscle biopsy and clinical variables in diagnosing ASSD, which performed poorly. Conclusion The current ASSD criteria include a variety of serological, clinical, and histological features with wide variability amongst proposed definitions and the performance of these definitions has not been tested. This systematic literature review suggests the need for additional data and consensus-driven classification criteria for ASSD.

Published
2022

7. POS0143 TISSUE RESIDENT MEMORY AND CYTOTOXIC T CELLS ARE CLONALLY EXPANDED IN THE MUSCLE OF PATIENTS WITH IDIOPATHIC INFLAMMATORY MYOPATHIES

Author

Galindo-Feria, A. S., primary, Argyriou, A., additional, Horuluoglu, B., additional, Díaz-Boada, J. S., additional, Notarnicola, A., additional, Dani, L., additional, Van Vollenhoven, A., additional, Ramsköld, D., additional, Nennesmo, I., additional, Dastmalchi, M., additional, Lundberg, I. E., additional, Diaz-Gallo, L. M., additional, and Chemin, K., additional

Published
2023
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11. POS0603 AUTOANTIBODIES AGAINST A SUBUNIT OF MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I IN INCLUSION BODY MYOSITIS

Author

Notarnicola, A., primary, Hellstrom, C., additional, Horuluoglu, B., additional, Preger, C., additional, Bonomi, F., additional, De Paepe, B., additional, De Bleecker, J., additional, Van der Kooi, A. J., additional, De Visser, M., additional, Sacconi, S., additional, Machado, P., additional, Badrising, U. A., additional, Rietveld, A., additional, Pruijn, G., additional, Rothwell, S., additional, Lilleker, J. B., additional, Chinoy, H., additional, Benveniste, O., additional, Svenungsson, E., additional, Idborg, H., additional, Jakobsson, P. J., additional, Nilsson, P., additional, and Lundberg, I. E., additional

Published
2023
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15. POS1221 CLINICAL FEATURES OF PATIENTS WITH ANTI-SYNTHETASE SYNDROME AND DERMATOMYOSITIS-ASSOCIATED SKIN MANIFESTATIONS: RESULTS FROM THE MYONET REGISTRY

Author

Hum, R. M., primary, Lilleker, J. B., additional, Lamb, J., additional, Oldroyd, A., additional, Ollier, W., additional, Wang, G., additional, Kodishala, C., additional, Wedderburn, L., additional, Diederichsen, L., additional, Schmidt, J., additional, Danieli, M. G., additional, Dankó, K., additional, Nguyen, T. P. T., additional, Vázquez-Del Mercado Espinosa, M., additional, Andersson, H., additional, De Paepe, B., additional, De Bleecker, J., additional, Maurer, B., additional, Mccann, L., additional, Pipitone, N., additional, New, R. P., additional, Steen Krogh, N., additional, Mchugh, N., additional, Vencovský, J., additional, Lundberg, I. E., additional, and Chinoy, H., additional

Published
2023
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16. Evaluation of an individually tailored smoking-cessation intervention for patients with rheumatoid arthritis in an outpatient clinic

Author

Karlsson, M-l, Hertzberg-Nyquist, K., Saevarsdottir, S., Lundberg, I. E., Demmelmaier, Ingrid, Pettersson, S., Chatzidionysiou, K., Karlsson, M-l, Hertzberg-Nyquist, K., Saevarsdottir, S., Lundberg, I. E., Demmelmaier, Ingrid, Pettersson, S., and Chatzidionysiou, K.

Abstract

Objective: The aim of this study was to evaluate an individually tailored smoking-cessation intervention delivered in rheumatology care and compare the characteristics of patients who quit smoking with those who did not. Method: This was an open single-group prospective intervention study over 24 months, with assessments at baseline and at 6, 12, 18, and 24 months. Current smokers with rheumatoid arthritis (RA) were invited to a smoking-cessation programme including behavioural change support, with or without pharmacotherapy. Data on disease activity, medical treatment, and patient-reported outcomes were retrieved from the Swedish Rheumatology Quality Register. The primary outcome was the proportion of patients at month 24 who reported having quit smoking with self-reported 7 day smoking abstinence. Results: In total, 99 patients participated in the study. Median age was 58 years (interquartile range 50-64); 69% were female and 88% rheumatoid factor and/or anti-cyclic citrullinated peptide positive. At 24 months, 21% of the patients had quit smoking. At 6, 12, and 18 months, 12%, 12%, and 14% of patients, respectively, had quit smoking. For patients still smoking at 24 months, the median number of cigarettes per day was significantly reduced from 12 to 6 (p <= 0.001). Among patients who had quit smoking at 24 months, a smaller proportion reported anxiety at baseline compared to those still smoking (28% vs 58%, p = 0.02). Conclusion: A smoking-cessation intervention including behavioural change support with or without pharmacotherapy can be helpful for a substantial number of RA patients. Anxiety is associated with lower smoking-cessation success rates.

Published
2023
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18. ADHD and Reading Disability in Male Adults: Is There a Connection?

Author

Samuelsson, S., Lundberg, I., and Herkner, B.

Abstract

The present study examined the comorbidity between attention-deficit/hyperactivity disorder (ADHD) and reading disability (RD) in male adults. Participants were 120 men, of whom 24 were classified as having ADHD. The basis for the diagnosis was two self-report scales validated by interviews and background data. An extensive battery was used to assess phonological abilities and various aspects of reading skills. No differences were obtained between adults with and without ADHD on measures of either phonological processing skills or word decoding, indicating a low comorbidity with RD. This finding was valid even when different criteria were used to diagnose RD. However, the two groups differed in reading comprehension, with individuals with ADHD performing poorly in tests of reading comprehension. These results are compatible with the view that reading comprehension involves many of the higher cognitive control functions assumed to be impaired in ADHD. However, these attentional control functions are not critical to word recognition, which is determined by a more encapsulated phonological processing module. The pattern of associations between ADHD and RD observed in the present study is explained with reference to the differential attentional demands of the two aspects of reading.

Published
2004

19. Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes

Author

Miller, F W, Chen, W, O'Hanlon, T P, Cooper, R G, Vencovsky, J, Rider, L G, Danko, K, Wedderburn, L R, Lundberg, I E, Pachman, L M, Reed, A M, Ytterberg, S R, Padyukov, L, Selva-O'Callaghan, A, Radstake, T R, Isenberg, D A, Chinoy, H, Ollier, W E R, Scheet, P, Peng, B, Lee, A, Byun, J, Lamb, J A, Gregersen, P K, and Amos, C I

Published
2015
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23. OP0160 HLA-DRB1 ASSOCIATIONS WITH AUTOANTIBODY-DEFINED SUBGROUPS IN IDIOPATHIC INFLAMMATORY MYOPATHIES (IIM)

Author

Leclair, V., primary, Galindo-Feria, A. S., additional, Rothwell, S., additional, Kryštůfková, O., additional, Mann, H., additional, Pyndt Diederichsen, L., additional, Andersson, H., additional, Klein, M., additional, Tansley, S., additional, Mchugh, N., additional, Lamb, J., additional, Vencovský, J., additional, Chinoy, H., additional, Holmqvist, M., additional, Padyukov, L., additional, Lundberg, I. E., additional, and Diaz-Gallo, L. M., additional

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

Author

Rothwell, S., Amos, C. I., Miller, F. W., Rider, L. G., Lundberg, I. E., Gregersen, P. K., Vencovsky, J., Mchugh, N., Limaye, V., Selva-O'Callaghan, A., Hanna, M. G., Machado, P. M., Pachman, L. M., Reed, A. M., Molberg, Ø., Benveniste, O., Mathiesen, P., Radstake, T., Doria, A., De Bleecker, J. L., De Paepe, B., Maurer, B., Ollier, W. E., Padyukov, L., O'Hanlon, T. P., Lee, A., Wedderburn, L. R., Chinoy, H., Lamb, J. A., Institut Català de la Salut, [Rothwell S] Centre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. [Amos CI] Baylor College of Medicine, Houston, Texas. [Miller FW, Rider LG] Environmental Autoimmunity Group, National Institute of Environmental Health Sciences, NIH, Bethesda, Maryland. [Lundberg IE] Division of Rheumatology, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden. [Gregersen PK] The Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute, Manhasset, New York. [Selva-O'Callaghan A] Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Rheumatology, Músculs - Malalties - Aspectes genètics, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Immunology, Malalties autoimmunitàries - Aspectes genètics, Immune System Diseases::Autoimmune Diseases [DISEASES], Other subheadings::Other subheadings::/genetics [Other subheadings], Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES], enfermedades del sistema inmune::enfermedades autoinmunes [ENFERMEDADES], Immunology and Allergy, Musculoskeletal Diseases::Muscular Diseases::Myositis [DISEASES], enfermedades musculoesqueléticas::enfermedades musculares::miositis [ENFERMEDADES], fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS]
Abstract

Idiopathic inflammatory myopathies; Genome Miopatías inflamatorias idiopáticas; Genoma Miopaties inflamatòries idiopàtiques; Genoma 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. Supported by the Intramural Research Program, National Institute of Environmental Health Sciences, NIH. Dr. Lundberg's work was supported by grants from the Swedish Research Council and Stockholm Regional Council (ALF). Dr. Vencovsky's work was supported by the Czech Ministry of Health–Conceptual Development of Research Organization (award 00023728) (Institute of Rheumatology). Drs. Hanna and Machado's work were supported by the NIHR University College London Hospitals Biomedical Research Centre. Drs. De Bleecker and De Paepe's work were supported by the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD). Dr. Wedderburn's work was supported by Versus Arthritis (awards 21593 and 21552), the Wellcome trust (award 085860), Myositis UK, the Cure JM Foundation, the Remission Charity, and the NIHR Biomedical research Centre at GOSH. Dr. Chinoy's work was supported by the Medical Research Council UK (award MR/N003322/1), Myositis UK, and the NIHR Manchester Biomedical Research Centre Funding Scheme. Dr. Lamb's work was supported by the Medical Research Council UK (award MR/N003322/1) and Myositis UK.

Published
2022

34. The Role of Exercise to Improve Physiological, Physical and Psychological Health Outcome in Idiopathic Inflammatory Myopathies (IIM)

Author

Lodin K, Espinosa-Ortega F, Lundberg IE, and Alexanderson H

Subjects
exercise, idiopathic inflammatory myopathies, treatment, Pathology, RB1-214, Therapeutics. Pharmacology, RM1-950
Abstract

Karin Lodin,1,2,&ast; Fabricio Espinosa-Ortega,1,2,&ast; Ingrid E Lundberg,1,2 Helene Alexanderson1,3 1Division of Rheumatology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden; 2Department of Gastro, Dermatology and Rheumatology, Theme Inflammation and Aging, Karolinska University Hospital, Stockholm, Sweden; 3Medical Unit Allied Health Professionals, Theme Women’s Health and Health Professionals, Karolinska University Hospital, Stockholm, Sweden&ast;These authors contributed equally to this workCorrespondence: Helene Alexanderson, Medical Unit Occupational Therapy and Physical Therapy, Theme Women’s Health and Health Professionals, Karolinska University Hospital, Gävlegatan 55, NB02:00, Stockholm, 17176, Sweden, Email helene.alexanderson@ki.seAbstract: Idiopathic inflammatory myopathies (IIM) impact all aspects of health, physiological, physical, and psychological. Hallmark symptoms of IIM are muscle weakness, reduced muscle endurance and aerobic capacity. Recently, pain and fatigue as well as anxiety and depression have emerged as common and debilitating symptoms in patients with IIM. The aim of this scoping review is to, in a holistic way, describe how IIM impact patients’ physiological, physical, and psychological health and how exercise has a role to treat as well as potentially counteract the effects of the disease. Inflammation induces non-immune response and organ damage. These changes with additional impact of physical inactivity lead to muscle impairment and reduced aerobic capacity. Pain, fatigue and low psychological well-being and overall quality of life are also common health aspects of IIM. Medical treatment can reduce inflammation but has in turn serious side effects such as muscle atrophy, type-II diabetes, and hypertension, which exercise has the potential to treat, and perhaps also counteract. In addition, exercise improves muscle function, aerobic capacity and might also reduce fatigue and pain. New evidence shows that reducing systemic inflammation may also improve patient-reported subjective health, quality of life and psychological well-being. Exercise in combination with medical treatment is becoming an important part of the treatment for patients with IIM as exercise has the potential to promote health aspects of various dimensions in patients with IIM.Keywords: exercise, idiopathic inflammatory myopathies, treatment

Published
2024

36. Myositis-specific and myositis-associated autoantibodies predict trajectories of damage over time in idiopathic inflammatory myopathies

Author

Espinosa-Ortega, F., Holmqvist, M., Lodin, K., Dastmalchi, M., Danieli, M. G., Venkovsky, J., Knitza, J., Oliveira, S., Diederichsen, L. P., Wedderburn, L., Andersson, H., del Mercado, M. Vazquez, Gomez-Martin, D., Torres, J., Callaghan, A. Selva O., Benveniste, O., De Visser, M., De Bleecker, J., McCann, L., De Langhe, E., Rietveld, A., Chinoy, H., Krogh, N. S., Alexanderson, H., Lundberg, I. E., and Grp, Euro-myositis

Published
2021
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39. Autoantigenic properties indicated for the entire aminoacyl tRNA synthetase family in idiopathic inflammatory myopathies

Author

Preger, C., Notarnicola, A., Hellström, Cecilia, Wigren, E., Fernandes-Cerqueira, C., Nilsson, Peter, Lundberg, I. E., Persson, Helena, Graslund, S., Jakobsson, P. J., Preger, C., Notarnicola, A., Hellström, Cecilia, Wigren, E., Fernandes-Cerqueira, C., Nilsson, Peter, Lundberg, I. E., Persson, Helena, Graslund, S., and Jakobsson, P. J.

Abstract

QC 20210928

Published
2021

45. Serum and balf-derived anti-JO1 autoantibodies exhibit high reactivity to distinct HISRS domains and associate with lung and joint involvement in patients with IIM/ASS

Author

Notarnicola, A., Preger, C., Lundström, S., Renard, N., Wigren, E., Van Gompel, E., Galindo-Feria, A. S., Persson, Helena, Fathi, M., Grunewald, J., Jakobsson, P. J., Gräslund, S., Lundberg, I. E., Cerqueira, C., Notarnicola, A., Preger, C., Lundström, S., Renard, N., Wigren, E., Van Gompel, E., Galindo-Feria, A. S., Persson, Helena, Fathi, M., Grunewald, J., Jakobsson, P. J., Gräslund, S., Lundberg, I. E., and Cerqueira, C.

Abstract

QC 20200825

Published
2020
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46. Characterization of anti-aminoacyl TRNA synthetase autoantibodies in patients with idiopathic inflammatory myopathies

Author

Preger, C., Notarnicola, A., Hellström, Cecilia, Wigren, E., Cerqueira, C., Nilsson, Peter, Lundberg, I. E., Persson, Helena, Graslund, S., Jakobsson, P. J., Preger, C., Notarnicola, A., Hellström, Cecilia, Wigren, E., Cerqueira, C., Nilsson, Peter, Lundberg, I. E., Persson, Helena, Graslund, S., and Jakobsson, P. J.

Abstract

QC 20200903

Published
2020
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