A5028268695- Inflammatory Myopathies and Dermatomyositis
- Eosinophilic Disorders and Syndromes
- Immunodeficiency and Autoimmune Disorders
- Muscle Physiology and Disorders
- Systemic Sclerosis and Related Diseases
- Skin Diseases and Diabetes
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Heterotopic Ossification and Related Conditions
- Neurogenetic and Muscular Disorders Research
- Muscle and Compartmental Disorders
- Genetic Neurodegenerative Diseases
- IgG4-Related and Inflammatory Diseases
- Celiac Disease Research and Management
- Cancer Immunotherapy and Biomarkers
- Neuroendocrine Tumor Research Advances
- T-cell and B-cell Immunology
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Chronic Lymphocytic Leukemia Research
- Lipoproteins and Cardiovascular Health
- Parkinson's Disease and Spinal Disorders
- Cancer Diagnosis and Treatment
- Autoimmune Bullous Skin Diseases
- Peptidase Inhibition and Analysis
- Radiomics and Machine Learning in Medical Imaging
- Soft tissue tumor case studies
National Institutes of Health
2016-2025
National Institute of Arthritis and Musculoskeletal and Skin Diseases
2016-2025
Johns Hopkins Medicine
2016-2025
Johns Hopkins University
2016-2025
Mayo Clinic
2024
University of Alberta
2024
University of Washington
2024
Universitat Oberta de Catalunya
2019-2023
Brigham and Women's Hospital
2022
Harvard University
2022
Objective. The aim was to study the prevalence, rate of appearance and severity clinical features in patients with different anti-synthetase syndrome (ASyS) autoantibodies. Methods. All Johns Hopkins Myositis Longitudinal Cohort subjects positive for any ASyS autoantibodies were included. Clinical information, including symptoms, signs, strength, creatine kinase concentrations pulmonary function tests, prospectively collected. standardized mortality cancer rates intensity organ...
Objectives The aims of this study were to define the pattern muscle involvement in patients with immune-mediated necrotising myopathy (IMNM) relative those other inflammatory myopathies and compare IMNM different autoantibodies. Methods All Johns Hopkins Myositis Longitudinal Cohort subjects a thigh MRI (tMRI) who fulfilled criteria for IMNM, dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) or clinically amyopathic DM (CADM) included study. Muscles assessed...
Activation of the type 1 interferon (IFN1) pathway is a prominent feature dermatomyositis (DM) muscle and may play role in pathogenesis this disease. However, relevance IFN1 patients with other types myositis such as antisynthetase syndrome (AS), immune-mediated necrotizing myopathy (IMNM), inclusion body (IBM) largely unknown. Moreover, activation 2 (IFN2) has not been comprehensively explored myositis. In cross-sectional study, our objective was to determine whether IFN2 pathways are...
Post-infectious myalgic encephalomyelitis/chronic fatigue syndrome (PI-ME/CFS) is a disabling disorder, yet the clinical phenotype poorly defined, pathophysiology unknown, and no disease-modifying treatments are available. We used rigorous criteria to recruit PI-ME/CFS participants with matched controls conduct deep phenotyping. Among many physical cognitive complaints, one defining feature of was an alteration effort preference, rather than or central fatigue, due dysfunction integrative...
Objective Dermatomyositis ( DM ) patients typically present with proximal weakness and autoantibodies that are associated distinct clinical phenotypes. We observed recognizing the nuclear matrix protein NXP ‐2 often presented especially severe weakness. The aim of this study was to characterize features anti– autoantibodies. Methods There were 235 who underwent testing for Patient characteristics, including muscle strength, compared between those without these number cancer cases in...
To study disease severity and response to therapy in a large cohort of patients with anti-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR)-associated myositis.
Objective Patients with immune‐mediated necrotizing myopathy (IMNM) often have autoantibodies recognizing the signal recognition particle (SRP) or HMG‐CoA reductase (HMGCR). Here, we studied a cohort of anti‐SRP patients to identify factors associated disease severity and clinical improvement; also compared weakness in those versus anti‐HMGCR autoantibodies. Methods All Johns Hopkins Myositis Cohort from 2002 2015 were included. Longitudinal information regarding proximal muscle strength,...
Objectives Anti-Ro52 autoantibodies are associated with more severe interstitial lung disease (ILD) in adult myositis patients antiaminoacyl transfer (t)RNA synthetase autoantibodies. However, few studies have examined anti-Ro52 juvenile myositis. The purpose of this study was to define the prevalence and clinical features a large cohort Methods We screened sera from 302 dermatomyositis (JDM), 25 polymyositis (JPM) 44 connective tissue disease–myositis overlap (JCTM) for by ELISA. Clinical...
Objectives Myositis is a heterogeneous family of diseases that includes dermatomyositis (DM), antisynthetase syndrome (AS), immune-mediated necrotising myopathy (IMNM), inclusion body myositis (IBM), polymyositis and overlap myositis. Additional subtypes can be defined by the presence myositis-specific autoantibodies (MSAs). The purpose this study was to define unique gene expression profiles in muscle biopsies from patients with MSA-positive DM, AS IMNM as well IBM. Methods RNA-seq...
Objective Prior investigations demonstrated that autoantibodies recognizing cytosolic 5′‐nucleotidase 1A (NT5C1A) are found in 33–76% of patients with inclusion body myositis (IBM) but observed only rarely polymyositis (PM). Thus, anti‐NT5C1A may help distinguish IBM from PM. Although 4–21% dermatomyositis (DM) were shown to be antibody positive, the clinical features anti‐NT5C1A–positive DM have not been described. Furthermore, prevalence antibodies other rheumatic conditions has reported....
To analyse the influence of genetic alterations and differential expression transcription intermediary factor 1 (TIF1) genes in pathophysiology cancer-associated myositis (CAM). Paired blood tumour DNA samples from patients with anti-TIF1γ-positive CAM controls were analysed by whole-exome sequencing for presence somatic mutations loss heterozygosity (LOH) their TIF1 genes. The genesis maintenance autoimmune process investigated immunohistochemically studying TIF1γ different tissues involved...
Idiopathic inflammatory myopathies (IIM) are characterized by muscle inflammation and weakness, myositis-specific autoantibodies (MSAs), extramuscular organ damage. The role of neutrophil dysregulation extracellular traps (NETs) in IIM is unclear. We assessed whether pathogenic subsets (low-density granulocytes [LDGs]) NETs were elevated IIM, associated with clinical presentation MSAs, their effect on skeletal myoblasts myotubes. Circulating LDGs quantified correlated measures. Specific MSAs...
<h3>Objective</h3> To define the clinical features of myositis patients with anti-PM/Scl-75 and/or anti-PM/Scl-100 autoantibodies at disease onset and during course compare them to other forms myositis. <h3>Methods</h3> In this longitudinal cohort study, prevalence severity follow-up were compared between anti-PM/Scl-positive those antisynthetase syndrome (AS), dermatomyositis (DM), immune-mediated necrotizing myopathy (IMNM). <h3>Results</h3> Forty-one anti-PM/Scl-positive, 132 AS, 178 DM,...
Sporadic inclusion body myositis (IBM) is the most common acquired muscle disease in adults over age 50, yet it remains unclear whether primarily driven by T cell–mediated autoimmunity. IBM biopsies display nuclear clearance and cytoplasmic aggregation of TDP-43 cells, a pathologic finding observed initially neurodegenerative diseases, where loss neurons causes aberrant RNA splicing. Here, we show that TDP-43–mediated splicing repression, as determined cryptic exons, occurs skeletal subjects...
Inflammatory myopathy or myositis is a heterogeneous family of immune-mediated diseases including dermatomyositis (DM), antisynthetase syndrome (AS), necrotising (IMNM) and inclusion body (IBM). Immune checkpoint inhibitors (ICIs) can also cause (ICI-myositis). This study was designed to define gene expression patterns in muscle biopsies from patients with ICI-myositis.Bulk RNA sequencing performed on 200 (35 ICI-myositis, 44 DM, 18 AS, 54 IMNM, 16 IBM 33 normal biopsies) single nuclei 22...
Autoantibodies targeting intracellular proteins are common in various autoimmune diseases. In the context of myositis, pathologic significance these autoantibodies has been questioned due to assumption that cannot enter living muscle cells. This study aims investigate validity this assumption.