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Cureus Apr 2023[This corrects the article DOI: 10.7759/cureus.36434.].
[This corrects the article DOI: 10.7759/cureus.36434.].
PubMed: 38348369
DOI: 10.7759/cureus.c108 -
Frontiers in Immunology 2024Dermatomyositis (DM) is a type of inflammatory myopathy with unknown causes. It is characterized by distinct skin lesions, weakness in the muscles close to the body, and... (Review)
Review
Dermatomyositis (DM) is a type of inflammatory myopathy with unknown causes. It is characterized by distinct skin lesions, weakness in the muscles close to the body, and the potential to affect multiple organs. Additionally, it may be associated with the presence of malignancies. The development of DM is influenced by genetic susceptibility, autoimmune response, and various external factors like cancer, drugs, and infectious agents. Psoriasis is a chronic, recurring, inflammatory, and systemic condition. Scaly erythema or plaque is the typical skin manifestation. The etiology of psoriasis involves genetic, immune, environmental and other factors. It is uncommon for a patient to have both of these diseases simultaneously, although individuals with DM may occasionally exhibit symptoms similar to those of psoriasis. Our patient was diagnosed with psoriasis in his 50s because of scalp squamous plaques, but he did not receive standard treatment. Ten years later, he developed symptoms of muscle pain and limb weakness. He was diagnosed with psoriasis complicated with dermatomyositis in our department and received corresponding treatment. Moreover, we reviewed the relevant literature to evaluate similarities and differences in clinical manifestation and treatment to other cases.
Topics: Male; Humans; Dermatomyositis; Psoriasis; Skin; Skin Diseases; Neoplasms
PubMed: 38348029
DOI: 10.3389/fimmu.2024.1345646 -
Anales de Pediatria Feb 2024
Topics: Humans; Dermatomyositis; Esophagus; Manometry; Disease Progression; Early Diagnosis
PubMed: 38341317
DOI: 10.1016/j.anpede.2023.10.010 -
Journal of Clinical Medicine Jan 2024Anti-MDA5 antibody-bearing (anti-MDA5)-dermatomyositis (DM) or polymyositis (PM) is notorious for causing rapidly progressive interstitial lung disease (RPILD) and/or...
Antibodies against Small Ubiquitin-like Modifier Activating Enzyme May Be a Protective Factor from Rapid Progressive Interstitial Lung Disease in Patients Bearing Antibodies against Melanoma Differentiation Associated Gene 5.
Anti-MDA5 antibody-bearing (anti-MDA5)-dermatomyositis (DM) or polymyositis (PM) is notorious for causing rapidly progressive interstitial lung disease (RPILD) and/or cancers with high mortality rate. However, anti-MDA5 antibodies (Abs) are also found in other connective tissue diseases and their link with RPILD, especially with regard to the mortality rate, are unknown. We retrospectively recruited 71 patients bearing anti-MDA5-Abs in serum, stratified them in terms of a presence or absence of RPILD, and evaluated their clinical features, laboratory findings, associated myositis antibodies, concurrent connective tissue disease (CTD) as well as newly developed malignancies. In total, 39 (55%) patients presented with DM/PM, but 32 (45%) did not. In total, 22 of the former and 11 of the latter developed RPILD eventually, accounting for a total of 46% of all MDA-5 bearing patients. On the other hand, 15 of all 71 (21.1%) patients had cancers. Among the 32 patients who did not have DM/PM, 27 (38.0% of all 71) had other CTDs, indicating that only 5 (7.0% of 71) patients did not have CTDs. Senility (odds ratio (OR) = 1.816, = 0.032), presence of anti-Ro-52 antibody (OR = 1.676, = 0.018), elevated C-reactive protein (CRP, OR = 4.354, < 0.001) and carcinoembryonic antigen (CEA, OR = 2.625, = 0.005) posed risks for RPILD. High lactose dehydrogenase (LDH, = 0.009), CRP ( = 0.001) and CEA ( = 0.001), ferritin ( ≤ 0.001) and low albumin ( ≤ 0.001) were significantly associated with mortality. Anti-SAE antibodies were negatively correlated with RPILD as analyzed by univariate (OR = 0.245, = 0.017) and multivariate (OR = 0.058, = 0.036) regressions, indicating that they may be a protective factor in relation to RPILD (OR = 0.543, = 0.008) or fatality (OR = 0.707, = 0.012), which was also demonstrated in subgroup analyses. In contrast to various risk factors for RPILD or mortality, anti-SAE antibodies might conversely be a protective factor in anti-MDA5 patients.
PubMed: 38337419
DOI: 10.3390/jcm13030725 -
Heliyon Feb 2024Polymyositis (PM), a prevalent inflammatory myopathy, currently lacks defined pathogenic mechanism. To illuminate its pathogenesis, we integrated bioinformatics and...
BACKGROUND
Polymyositis (PM), a prevalent inflammatory myopathy, currently lacks defined pathogenic mechanism. To illuminate its pathogenesis, we integrated bioinformatics and clinical specimens to examine potential aberrant gene expression patterns and their localization.
METHODS
We obtained GSE128470 and GSE3112 dataset from the Gene Expression Omnibus, performed Gene Set Enrichment Analysis (GSEA) and immune infiltration analysis using CiberSort, identified differentially expressed genes with Limma, conducted functional annotation and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis, constructed a Protein-Protein Interaction network, and identified hub genes using Cytoscape. ROC analysis evaluated hub gene diagnostic accuracy for PM, validated their expression levels with clinical specimens.
RESULTS
DEG analysis revealed 51 upregulated and 779 downregulated genes. Gene Ontology (GO) analysis implicated Type I interferon (IFN-Ⅰ) signaling, while KEGG pointed to cell adhesion molecule activation and oxidative phosphorylation inhibition. Protein-Protein Interaction (PPI) analysis identified 8 diagnosffftic hub genes. Clinical samples confirmed their upregulation in PM, especially IRF1 and IRF9 between muscle fibers. Different immune cell infiltrations were observed in PM patients versus controls.
CONCLUSIONS
Our study explores potential pathogenic factors, diagnostic markers, and immune cells in PM, with a focus on verifying IRF1 and IRF9 upregulation in the IFN-I signaling pathway. These findings bear significance for PM diagnosis and treatment.
PubMed: 38317877
DOI: 10.1016/j.heliyon.2024.e24537 -
RMD Open Feb 2024To develop and validate the cut-offs in the Juvenile DermatoMyositis Activity Index (JDMAI) to distinguish the states of inactive disease (ID), low disease activity...
OBJECTIVES
To develop and validate the cut-offs in the Juvenile DermatoMyositis Activity Index (JDMAI) to distinguish the states of inactive disease (ID), low disease activity (LDA), moderate disease activity (MDA) and high disease activity (HDA) in children with juvenile dermatomyositis (JDM).
METHODS
For cut-off definition, data from 139 patients included in a randomised clinical trial were used. Among the six versions of the JDMAI, JDMA1 (score range 0-40) and JDMAI2 (score range 0-39) were selected. Optimal cut-offs were determined against external criteria by calculating different percentiles of score distribution and through receiver operating characteristic curve analysis. External criteria included the modified Pediatric Rheumatology International Trials Organization (PRINTO) criteria for clinically ID in JDM (for ID) and PRINTO levels of improvement in the clinical trial (for LDA and HDA). MDA cut-offs were set at the score interval between LDA and HDA cut-offs. Cut-off validation was conducted by assessing construct and discriminative ability in two cohorts including a total of 488 JDM patients.
RESULTS
The calculated JDMAI1 cut-offs were ≤2.4 for ID, ≤6.6 for LDA, 6.7-11 for MDA and >11 for HDA. The calculated JDMAI2 cut-offs were ≤5.2 for ID, ≤8.5 for LDA, 8.6-11.3 for MDA and >11.3 for HDA. The cut-offs discriminated strongly among disease activity states defined subjectively by caring physicians and parents, parents' satisfaction or non-satisfaction with illness outcome, levels of pain, fatigue, physical functional impairment and physical well-being.
CONCLUSIONS
Both JDMAI1 and JDMAI2 cut-offs revealed good metrologic properties in validation analyses and are, therefore, suited for application in clinical practice and research.
Topics: Child; Humans; Dermatomyositis; Physicians; Rheumatology; ROC Curve; Severity of Illness Index; Randomized Controlled Trials as Topic
PubMed: 38307698
DOI: 10.1136/rmdopen-2023-003093 -
Frontiers in Pediatrics 2023Lymphocytic interstitial pneumonia (LIP) in pediatric patients without human immunodeficiency virus (HIV) infection remains a poorly characterized and enigmatic disease....
Lymphocytic interstitial pneumonia (LIP) in pediatric patients without human immunodeficiency virus (HIV) infection remains a poorly characterized and enigmatic disease. Immunological dysregulation, mutations in the COPA gene, and increased morbidity and mortality have been reported in these patients. We present a case of LIP in a pediatric patient without HIV infection. This patient was infected with human T-lymphotropic virus type 1 (HTLV-1) and required right lower lobectomy with pathological findings compatible with lymphocytic interstitial pneumonia. In addition, bronchiectasis, dermatological involvement, and malnutrition were documented. However, no autoimmune disease, polymyositis, myelopathy, or opportunistic infections were found. There were no abnormalities in cellular and humoral immunity. A genetic study identified heterozygous mutations in the SCNN1B, FCHO1, and IL7R genes using single exome sequencing of coding and splicing regions. Although these heterozygous variants are not reported to be aetiological for LIP or diagnostic for the patient's congenital immunodeficiency, we believe they are associated with the severe lung damage seen in the patient's case.
PubMed: 38298932
DOI: 10.3389/fped.2023.1307607 -
Clinical and Experimental Rheumatology Feb 2024
Topics: Humans; Dermatomyositis; Autoantibodies; Antibodies, Monoclonal; Disease Progression; Lung Diseases, Interstitial; Interferon-Induced Helicase, IFIH1; Retrospective Studies
PubMed: 38293965
DOI: 10.55563/clinexprheumatol/monpb6 -
Mediterranean Journal of Rheumatology Dec 2023We report a longitudinal observational cohort of idiopathic inflammatory myositis (IIM) focusing on the long-term clinical outcome and associated parameters.
BACKGROUND
We report a longitudinal observational cohort of idiopathic inflammatory myositis (IIM) focusing on the long-term clinical outcome and associated parameters.
METHODS
IIM patients were classified as per Bohan and Peter criteria. In those with ≥ 24 months of follow-up; the treatment response, functional outcomes, and damage at last follow-up were recorded. Complete clinical response and clinical remission as defined by Oddis et al., was used to define outcomes at last follow-up.
RESULTS
The cohort consists of 175 patients, mean age 40.9 (+12.6) years, M:F 1:3.3; and the major subsets were dermatomyositis (44.6%), overlap myositis (25.7%), antisynthetase syndrome (6.3%), polymyositis (14.3%), and juvenile DM/OM (8.6%). Ninety-four patients have followed up for 24 months or more, with the median (IQR) of 65(35,100.7) months. Of them, 74.1% and 11.8% had complete and partial clinical responses respectively at the last follow-up. In our cohort 40.2% were off-steroids and 13.8% were in clinical remission at the last follow-up. Complete clinical response was associated with better functional outcomes and lesser damage as determined by HAQ-DI of 0[OR10.9; 95%CI (3.3,160)], MRS [OR 3.2; 95%CI (1.4,7.3)] and lesser MDI [OR 1.7; 95% CI (1.1,2.7)] respectively as compared to partial response (unadjusted analysis). Baseline parameters and IIM subsets did not significantly influence the functional outcome and damage. The mortality rate in our cohort is 24/175 (13.7%), the disease-specific mortality rate being 9.1%. Large majority of deaths were early, associated with active disease.
CONCLUSION
We report good long-term outcomes in all major myositis subsets. Partial clinical response to treatment is associated with worse functional outcomes and damage accrual. Death occurs early in association with active disease.
PubMed: 38282927
DOI: 10.31138/mjr.280823.lto