Article
Pediatrics
Avinash Sharma, Dharmagat Bhattarai, Anju Gupta, Sandesh Guleria, Amit Rawat, Pandiarajan Vignesh, Ravinder Garg, Surjit Singh
Summary: The study found that eight patients with JDM tested positive for at least one MSA or MAA, with varying presence of SRP, MDA-5, Mi-2, and SSA/Ro52 antibodies.
INDIAN JOURNAL OF PEDIATRICS
(2021)
Article
Rheumatology
Takayuki Kishi, William Warren-Hicks, Nastaran Bayat, Ira N. Targoff, Adam M. Huber, Michael M. Ward, Lisa G. Rider
Summary: The study examined a North American registry of JDM patients to investigate factors associated with corticosteroid discontinuation, complete clinical response, and remission. Results suggest that JDM patients can achieve favorable outcomes over several years, with corticosteroid discontinuation, complete clinical response, and remission being inter-related and influenced by various clinical features and myositis autoantibodies.
Review
Immunology
Anais Nombel, Nicole Fabien, Frederic Coutant
Summary: Anti-MDA5 dermatomyositis is a rare systemic autoimmune disease with a diverse clinical spectrum, with three distinct clinical phenotypes defined by different prognosis. Specific antibodies targeting MDA5 are the only known molecular component shared by the three entities. Current knowledge on the pathogenic mechanisms of the disease is still in its infancy, but evidence supports a central role of interferon-mediated vasculopathy in lesion development.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Clinical Neurology
Jantima Tanboon, Michio Inoue, Shinya Hirakawa, Hisateru Tachimori, Shinichiro Hayashi, Satoru Noguchi, Shigeaki Suzuki, Naoko Okiyama, Manabu Fujimoto, Ichizo Nishino
Summary: Patients with anti-Mi-2 DM exhibited higher severity scores in muscle fiber and inflammatory domains compared to non-Mi-2 DM patients. Additionally, features such as perifascicular necrosis, increased perimysial alkaline phosphatase activity, and sarcolemmal membrane attack complex deposition were more frequent in patients with anti-Mi-2 DM. The study suggests a possible overlapping mechanism between anti-Mi-2 DM and ASS.
Article
Rheumatology
Gulnara Mamyrova, Takayuki Kishi, Min Shi, Ira N. Targoff, Adam M. Huber, Rodolfo Curiel, Frederick W. Miller, Lisa G. Rider
Summary: Anti-MDA5 JIIM represents a distinct subset characterized by frequent arthritis, weight loss, adenopathy, and less severe myositis, and is associated with interstitial lung disease (ILD). Compared to other myositis-specific autoantibody groups, patients with anti-MDA5 antibodies show different clinical features and treatment patterns.
Article
Rheumatology
Yuji Hosono, Brandon Sie, Iago Pinal-Fernandez, Katherine Pak, Christopher A. Mecoli, Maria Casal-Dominguez, Blake M. Warner, Mariana J. Kaplan, Jemima Albayda, Sonye Danoff, Thomas E. Lloyd, Julie J. Paik, Eleni Tiniakou, Rohit Aggarwal, Chester Oddis, Siamak Moghadam-Kia, Carmelo Carmona-Rivera, Jose Cesar Milisenda, Josep Maria Grau-Junyent, Albert Selva-O'Callaghan, Lisa Christopher-Stine, H. Benjamin Larman, Andrew Lee Mammen
Summary: A novel autoantibody Sp4 was discovered in patients with dermatomyositis, and it appears to identify a subgroup of anti-TIF1 gamma-positive dermatomyositis patients with lower cancer risk.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Review
Rheumatology
Chikaho Akiyama, Tsuyoshi Shirai, Hiroko Sato, Hiroshi Fujii, Tomonori Ishii, Hideo Harigae
Summary: Pregnancy is an important risk factor for autoimmune rheumatic diseases, and this study presents two cases of dermatomyositis (DM) developing during the perinatal period, one resulting in fetal death and the other requiring intensive therapy after miscarriage. Various myositis-specific autoantibodies are associated with pregnancy-triggered DM and PM, with delays in treatment and poor response to corticosteroids potentially leading to adverse fetal outcomes. Early consideration and testing for myositis-specific autoantibodies is recommended in pregnant patients presenting with symptoms of rash, fever, weakness, and cough.
RHEUMATOLOGY INTERNATIONAL
(2022)
Article
Rheumatology
Wenhao Zhang, Yiming Zheng, Yikang Wang, Hui Xiong, Chengli Que, Xiaohui Zhang, Ying Zhu, Yawen Zhao, Meng Yu, Lingchao Meng, He Lv, Wei Zhang, Hongjun Hao, Jiangxi Xiao, Yun Yuan, Zhaoxia Wang
Summary: MRI evaluation of patients with antisynthetase syndrome (ASS), dermatomyositis (DM), and immune-mediated necrotizing myopathy (IMNM) revealed frequent muscle and myofascial edema in ASS patients. Compared to IMNM, ASS and DM were associated with more adductor-muscle sparing and subcutaneous-tissue edema. While similar edema patterns were observed in ASS and DM, there were subtle differences between the two groups, including less symmetry and more myofascial edema of the tensor fasciae latae in the ASS group.
Article
Rheumatology
Nadege Cordel, Celine Derambure, Sophie Coutant, Xavier Mariette, Denis Jullien, Sebastien Debarbieux, Olivier Chosidow, Alain Meyer, Didier Bessis, Pascal Joly, Alexis Mathian, Herve Levesque, Jean-Christophe Sabourin, Isabelle Tournier, Olivier Boyer
Summary: This study deep sequenced the TRIM33 gene in tumours from patients with cancer-associated anti-TIF1 gamma autoantibody-positive DM, identifying potential somatic variants. The results support the hypothesis of a role of TRIM33 gene mutations in the pathophysiology of anti-TIF1 gamma autoantibody-positive DM, consistent with previous reports.
Article
Dermatology
Hsing-Jou Su, Wen-Hung Chung, Chien-Yio Lin
Summary: This study investigated the correlations among cutaneous manifestations, myositis autoantibodies, and systemic diseases in dermatomyositis (DM) patients in Taiwan. The results showed significant associations between certain clinical features and the development of interstitial lung disease (ILD) and internal malignancy.
AUSTRALASIAN JOURNAL OF DERMATOLOGY
(2022)
Article
Rheumatology
Rie Karasawa, Kazuo Yudoh, Toshiko Sato, Megumi Tanaka, Sara E. Sabbagh, Willy A. Flegel, Andrew L. Mammen, James N. Jarvis, Lisa G. Rider
Summary: By using Western blotting, the expression of TPM4 protein in normal human dermal microvascular ECs was investigated. Using ELISA, anti-TPM4 autoantibodies were detected in 30% of JDM plasma samples. These autoantibodies were associated with certain clinical features of JDM, such as cutaneous ulcers, shawl sign rash, mucous membrane lesions, and subcutaneous edema.
Article
Rheumatology
Matthew A. Sherman, Rose Graf, Sara E. Sabbagh, Angeles S. Galindo-Feria, Iago Pinal-Fernandez, Katherine Pak, Takayuki Kishi, Willy A. Flegel, Ira N. Targoff, Frederick W. Miller, Ingrid E. Lundberg, Lisa G. Rider, Andrew L. Mammen
Summary: This study found the presence of anti-FHL1 autoantibodies in juvenile IIM patients, which were associated with MAAs and specific skin rash, but not with other clinical features or worse outcomes.
Article
Rheumatology
Rie Karasawa, Kazuo Yudoh, Toshiko Sato, Megumi Tanaka, Mayumi Tamaki, Sara E. Sabbagh, Terrance P. O'Hanlon, Payam Noroozi-Farhadi, Ira N. Targoff, Willy A. Flegel, Andrew L. Mammen, Frederick W. Miller, Mark D. Hicar, Lisa G. Rider, James N. Jarvis
Summary: This study found that anti-HSC70 autoantibodies are frequently detected in children with JDM and are associated with disease severity. Patients with anti-HSC70 autoantibodies are more likely to develop cutaneous ulcers and require the use of wheelchairs or assistive devices. High scores on measures of myositis damage and an increased number of hospitalizations are also associated with anti-HSC70 autoantibodies.
Article
Rheumatology
Hironori Sato, Yuzaburo Inoue, Yusuke Kawashima, Ryo Konno, Osamu Ohara, Masataka Kuwana, Norimoto Kobayashi, Shunichiro Takezaki, Shinji Akioka
Summary: By comprehensively analyzing the proteins in the serum of JDM patients, we identified specific protein expression profiles for muscle-specific autoantibodies (MSAs) associated with different clinical features. We detected numerous proteins related to muscle development and IFN regulation in JDM sera. Pathway analysis revealed a significant upregulation of the type I IFN and proteasome pathways specifically in the anti-MDA5 antibody group. These findings indicate that the pathways associated with clinical features of MSAs vary depending on protein accumulation.
Article
Rheumatology
Angeles S. Galindo-Feria, Begum Horuluoglu, Jessica Day, Catia Fernandes-Cerqueira, Edvard Wigren, Susanne Graslund, Susanna Proudman, Ingrid E. Lundberg, Vidya Limaye
Summary: This study investigated the prevalence and associations of autoantibodies targeting FHL1 in patients with idiopathic inflammatory myopathies (IIM) and systemic sclerosis (SSc) in South Australia. The results showed a high prevalence of anti-FHL1 autoantibodies in IIM patients, and a potential association with specific HLA alleles. Additionally, anti-FHL1 autoantibodies were also detected in a subgroup of SSc patients, suggesting that they may not be specific to myositis.
Letter
Rheumatology
Iago Pinal-Fernandez, Maria Casal-Dominguez, Jose Cesar Milisenda, Andrew Lee Mammen
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Rheumatology
Ana Matas-Garcia, Alfredo Guillen-Del-Castillo, Boris Kisluk, Albert Selva-O'Callaghan, Gerard Espinosa, Sergio Prieto-Gonzalez, Pedro Moreno Lozano, Gloria Garrabou, Josep Maria Grau-Junyent, Carmen Pilar Simeon-Aznar, Jose C. Milisenda
Summary: This study analyzed the clinico-serological and histological phenotypes of SSc patients with associated myopathy. The patients were divided into two subgroups based on histological findings: fibrosing and inflammatory. Significant differences were found in clinical data, antibody profile, electrophysiologic studies, treatment response, mortality, and survival between the two groups.
Article
Rheumatology
Akira Yoshida, Minchul Kim, Masataka Kuwana, Naveen Ravichandran, Ashima Makol, Parikshit Sen, James B. Lilleker, Vishwesh Agarwal, Sinan Kardes, Jessica Day, Marcin Milchert, Mrudula Joshi, Tamer Gheita, Babur Salim, Tsvetelina Velikova, Abraham Edgar Gracia-Ramos, Ioannis Parodis, Albert Selva O'Callaghan, Elena Nikiphorou, Tulika Chatterjee, Ai Lyn Tan, Arvind Nune, Lorenzo Cavagna, Miguel A. Saavedra, Samuel Katsuyuki Shinjo, Nelly Ziade, Johannes Knitza, Oliver Distler, Hector Chinoy, Vikas Agarwal, Rohit Aggarwal, Latika Gupta
Summary: The physical function of patients with idiopathic inflammatory myopathies (IIMs) is significantly poorer compared to those with non-IIM autoimmune rheumatic diseases (AIRDs) or healthy controls (HCs). Even in patients with inactive disease, physical function remains impaired. Factors such as older age, female gender, longer disease duration, and specific diagnoses were identified as independent factors contributing to lower PROMIS PF-10a scores.
Article
Rheumatology
Yuji Hosono, Brandon Sie, Iago Pinal-Fernandez, Katherine Pak, Christopher A. Mecoli, Maria Casal-Dominguez, Blake M. Warner, Mariana J. Kaplan, Jemima Albayda, Sonye Danoff, Thomas E. Lloyd, Julie J. Paik, Eleni Tiniakou, Rohit Aggarwal, Chester Oddis, Siamak Moghadam-Kia, Carmelo Carmona-Rivera, Jose Cesar Milisenda, Josep Maria Grau-Junyent, Albert Selva-O'Callaghan, Lisa Christopher-Stine, H. Benjamin Larman, Andrew Lee Mammen
Summary: A novel autoantibody Sp4 was discovered in patients with dermatomyositis, and it appears to identify a subgroup of anti-TIF1 gamma-positive dermatomyositis patients with lower cancer risk.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Rheumatology
Nadege Cordel, Benoit Dechelotte, Fabienne Jouen, Janine A. Lamb, Hector Chinoy, Paul New, Jiri Vencovsky, Herman Mann, Angeles S. Galindo-Feria, Lara Dani, Albert Selva-O'Callaghan, Victoria P. Werth, Adarsh Ravishankar, Oceane Landon-Cardinal, Benoit Tressieres, Olivier Boyer
Summary: This study found that anti-TIF1 gamma IgG2 is a biomarker for cancer in anti-TIF1 gamma antibody-positive adult DM. The levels of antibodies were significantly higher in patients with cancer compared to those without.
Article
Clinical Neurology
Andres Nascimento, Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, Jose C. Milisenda, Elicia A. Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A. Stafki, Lynn S. Pais, Vijay S. Ganesh, Anne O'Donnell-Luria, Safoora B. Syeda, Laura Carrera-Garcia, Jessica Exposito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G. W. Lidov, Andrew L. Mammen, Josep M. Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S. Ghosh, Basil T. Darras, Cristina Jou, Louis M. Kunkel, Janet Hoenicka, Carsten G. Bonnemann, Peter B. Kang, Daniel Natera-de Benito
Summary: This study found that variants in the DTNA gene are associated with human skeletal muscle disease, leading to symptoms such as muscle weakness, fatigue, and exercise intolerance. The study also demonstrated that these variants disrupt the interaction between alpha-dystrobrevin and syntrophin.
ACTA NEUROPATHOLOGICA
(2023)
Article
Rheumatology
Iago Pinal-Fernandez, Jose Cesar Milisenda, Katherine Pak, Sandra Munoz-Braceras, Maria Casal-Dominguez, Jiram Torres-Ruiz, Stefania Dell'Orso, Faiza Naz, Gustavo Gutierrez-Cruz, Yaiza Duque-Jaimez, Ana Matas-Garcia, Joan Padrosa, Francesc J. Garcia-Garcia, Mariona Guitart-Mampel, Gloria Garrabou, Ernesto Trallero-Araguas, Brian Walitt, Julie J. Paik, Jemima Albayda, Lisa Christopher-Stine, Thomas E. Lloyd, Josep Maria Grau-Junyent, Albert Selva-O'Callaghan, Andrew Lee Mammen
Summary: This study aimed to define the transcriptional profile of muscle biopsies from anti-Mi2-positive dermatomyositis (DM) patients. A set of 135 genes, including SCRT1 and MADCAM1, was specifically overexpressed in anti-Mi2-positive DM muscle. The expression levels of these genes correlated with anti-Mi2 autoantibody titres, markers of disease activity and with the other members of the gene set.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Allergy
Teresa Garriga-Baraut, M. M. San Miguel Moncin, Merce Tena, Moises Labrador-Horrillo
Summary: The use of the commercial microarray ImmunoCAP(TM) ISAC 112 has a significant impact on the etiological diagnosis and prescription of allergen-specific immunotherapy compared to conventional diagnostic methods in patients with allergic rhinitis/rhinoconjunctivitis and/or asthma.
CLINICAL AND TRANSLATIONAL ALLERGY
(2023)
Review
Immunology
Nestor Lopez Guerra, Ana Matas-Garcia, Laura Serra-Garcia, Daniel Morgado-Carrasco, Joan Padrosa, Iban Aldecoa, Yaiza Duque, Maria Casal-Dominguez, Sandra Munoz-Braceras, Raquel Aranega, Pedro Moreno-Lozano, Judith Canto-Santos, Gloria Garrabou, Estibaliz Ruiz-Ortiz, Ernesto Trallero-Araguas, Albert Selva-O'Callaghan, Josep M. Grau, Susana Puig, Jiram Torres-Ruiz, Andrew L. Mammen, Iago Pinal Fernandez, Jose C. Milisenda
Summary: This study aims to describe three cases of dermatomyositis (DM) triggered by immune checkpoint inhibitors (ICI) and perform a review of the literature. The study found that ICI can trigger DM and lead to different immune-related adverse events. The retrospective evaluation of the three cases suggests that early positivity to anti-TIF1 γ may play a role in the development of DM.
AUTOIMMUNITY REVIEWS
(2023)
Review
Immunology
Immaculada Armadans-Tremolosa, Albert Selva-O'Callaghan
Summary: Health-related quality of life (HRQoL) and wellbeing are worse in patients with chronic conditions, including myositis, compared to the general population. Research shows a negative relationship between myositis and wellbeing, but there is limited data on how improved wellbeing can affect the course of the disease. This article examines HRQoL, wellbeing, and related concepts, with a focus on the benefits of positive status in various areas for reducing the severity of myositis and its organ damage. The factors influencing HRQoL and wellbeing are analyzed to develop specific strategies for improving the lives of adult patients with myositis.
EXPERT REVIEW OF CLINICAL IMMUNOLOGY
(2023)
Article
Rheumatology
Iago Pinal-Fernandez, Angela Quintana, Jose Cesar Milisenda, Maria Casal-Dominguez, Sandra Munoz-Braceras, Assia Derfoul, Jiram Torres-Ruiz, Katherine Pak, Stefania Dell'Orso, Faiza Naz, Gustavo Gutierrez-Cruz, Margherita Milone, Shahar Shelly, Yaiza Duque-Jaimez, Ester Tobias-Baraja, Ana Matas-Garcia, Gloria Garrabou, Joan Padrosa, Javier Ros, Ernesto Trallero-Araguas, Brian Walitt, Lisa Christopher-Stine, Thomas E. Lloyd, Chen Zhao, Shannon Swift, Arun Rajan, Josep Maria Grau-Junyent, Albert Selva-O'Callaghan, Teerin Liewluck, Andrew Lee Mammen
Summary: This study identified three distinct types of immune checkpoint inhibitor-associated myositis (ICI-myositis) based on gene expression patterns, including ICI-DM, ICI-MYO1 and ICI-MYO2. ICI-DM patients overexpressed type 1 interferon-inducible genes, similar to dermatomyositis (DM) patients. ICI-MYO1 patients had highly inflammatory muscle biopsies and developed coexisting myocarditis.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Letter
Rheumatology
Mrinalini Dey, R. Naveen, Elena Nikiphorou, Parikshit Sen, Sreoshy Saha, James B. Lilleker, Vishwesh Agarwal, Sinan Kardes, Jessica Day, Marcin Milchert, Mrudula Joshi, Tamer Gheita, Babur Salim, Tsvetelina Velikova, Abraham Edgar Gracia-Ramos, Ioannis Parodis, Albert Selva O'Callaghan, Minchul Kim, Tulika Chatterjee, Ai Lyn Tan, Ashima Makol, Arvind Nune, Lorenzo Cavagna, Miguel A. Saavedra, Samuel Katsuyuki Shinjo, Nelly Ziade, Johannes Knitza, Masataka Kuwana, Oliver Distler, Bhupen Barman, Yogesh Preet Singh, Rajiv Ranjan, Avinash Jain, Sapan C. Pandya, Rakesh Kumar Pilania, Aman Sharma, Manesh M. Manoj, Vikas Gupta, Chengappa G. Kavadichanda, Pradeepta Sekhar Patro, Sajal Ajmani, Sanat Phatak, Rudra Prosad Goswami, Abhra Chandra Chowdhury, Ashish Jacob Mathew, Padnamabha Shenoy, Ajay Asranna, Keerthi Talari Bommakanti, Anuj Shukla, Arunkumar R. Pande, Kunal Chandwar, John D. Pauling, Chris Wincup, Dondu Uskudar Cansu, Erick Adrian Zamora Tehozol, Jorge Rojas Serrano, Ignacio Garcia-De La Torre, Nicoletta Del Papa, Gianluca Sambataro, Atzeni Fabiola, Marcello Govoni, Simone Parisi, Elena Bartoloni Bocci, Gian Domenico Sebastiani, Enrico Fusaro, Marco Sebastiani, Luca Quartuccio, Franco Franceschini, Pier Paolo Sainaghi, Giovanni Orsolini, Rossella De Angelis, Maria Giovanna Danielli, Vincenzo Venerito, Lisa S. Traboco, Leonardo Santos Hoff, Suryo Anggoro Kusumo Wibowo, Stylianos Tomaras, Daman Langguth, Vidya Limaye, Merrilee Needham, Nilesh Srivastav, Akira Yoshida, Ran Nakashima, Shinji Sato, Naoki Kimura, Yuko Kaneko, Jesus Loarce-Martos, Sergio Prieto-Gonzalez, Albert Gil-Vila, Raquel Aranega Gonzalez, Hector Chinoy, Vikas Agarwal, Rohit Aggarwal, Latika Gupta
Article
Rheumatology
B. C. Gracia Tello, E. Ramos Ibanez, L. Saez Comet, A. Guillen Del Castillo, C. P. Simeon Aznar, A. Selva O'Callaghan, G. Espinosa, G. Lledo, M. Freire Dapena, E. Martinez Robles, J. J. Rios, J. A. Todoli Parra, B. Mari Alfonso, N. Ortego Centeno, A. Marin Ballve, J. L. Callejas Rubio, V. Fonollosa Pla, P. Fanlo
Summary: This study presents the external clinical validation of an automated system for analyzing NVC images, aiming to evaluate its accuracy in assessing patients with SSc or RP. The results suggest that the algorithm is useful in assisting the diagnosis and follow-up of these patients, as well as in the management of patients with any pathology presenting with microvascular changes.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2023)