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Rheumatology (Oxford, England) May 2024Idiopathic inflammatory myopathies (IIM) can present with acute IIM-related lung injury and respiratory failure, leading to a high mortality risk in intensive care units...
OBJECTIVES
Idiopathic inflammatory myopathies (IIM) can present with acute IIM-related lung injury and respiratory failure, leading to a high mortality risk in intensive care units (ICU). Extracorporeal membrane oxygenation (ECMO) in acute respiratory distress syndrome can be lifesaving. We aimed to report a case series of IIM patients that received ECMO.
METHODS
Patients with IIM from tertiary care centers in Belgium, Canada, Denmark, United States, and Sweden who underwent ECMO were reviewed to describe clinical characteristics, disease outcomes and hospitalization course. Clinical characteristics at admission and during ICU stay including ECMO complications and mortality causes were summarized.
RESULTS
The study included 22 patients (50% female, mean±SD age at admission 47 ± 12 years) with anti-MDA5 positive dermatomyositis (68%), anti-synthetase syndrome (14%), polymyositis (9%), overlap myositis (5%) and non-MDA5 dermatomyositis (5%). Patients had low comorbidity scores and 46% had received immunosuppression before their ICU admission. Eight (36%) patients died in the ICU, six (27%) were bridged to recovery and eight (36%) were bridged to transplant. When comparing patients bridged to recovery and those who died in the ICU, those who died were older (p= 0.03) and had higher median Charlson comorbidity index scores (p= 0.05). Both groups had similar frequencies of ECMO-related complications (33% vs 50%, p= 0.94).
CONCLUSION
In the patients exposed to ECMO in this case series, 14 were successfully bridged to recovery or transplant, while 8 died in the ICU. Large studies are needed to collect data on clinical outcomes in patients with IIM-ILD exposed to ECMO to identify the best candidates for the intervention.
PubMed: 38796679
DOI: 10.1093/rheumatology/keae311 -
Journal of Translational Internal... Apr 2024MicroRNAs (miRNAs) represent a new class of biomarkers in the context of connective tissue disorders. The miRNA expression profiles in peripheral blood mononuclear cells...
BACKGROUND AND OBJECTIVES
MicroRNAs (miRNAs) represent a new class of biomarkers in the context of connective tissue disorders. The miRNA expression profiles in peripheral blood mononuclear cells (PBMCs) of patients with polymyositis (PM) and dermatomyositis (DM) have not been fully elucidated. The objective is to investigate miRNAs expression profile in PBMCs of patients with PM/DM.
METHODS
Microarray technology was used to identify differentially expressed miRNAs in PBMCs obtained from 6 untreated PM/DM patients and 3 healthy controls (HCs). TaqMan-based stem-loop real-time PCR detection was used for validation in a cohort of 34 PM/DM patients and 20 HCs.
RESULTS
Microarray analysis revealed 38 differentially expressed miRNAs (24 up-regulated and 14 down-regulated) in PM/DM patients compared to HCs. Four miRNAs (miR-320a, miR-335-3p, miR-34a-5p and miR-454-3p) were chosen for real-time PCR validation. The expression of miR-34a-5p was significantly upregulated in PM/DM group ( < 0.05). In subgroup analysis, miR-34a-5p was significantly upregulated in interstitial lung disease (ILD) group and DM group ( < 0.001). The level of SIRT1, a validated target of miR-34a, was significantly lower in PBMCs of PM/DM patients compared with HCs.
CONCLUSIONS
MiR-34a-5p may potentially participate in the pathogenesis of PM/DM through SIRT1, and may serve as a potential new biomarker for PM/DM-ILD.
PubMed: 38779122
DOI: 10.2478/jtim-2022-0055 -
Proceedings of the National Academy of... May 2024
Topics: Dermatomyositis; Lung Diseases, Interstitial; Animals; Mice; Interferon-Induced Helicase, IFIH1; Autoimmunity; Disease Models, Animal; Humans
PubMed: 38776374
DOI: 10.1073/pnas.2408646121 -
Pediatric Rheumatology Online Journal May 2024Juvenile Dermatomyositis (JDM) is the leading cause of non-infectious inflammatory myopathy in children. It is a heterogeneous group of autoimmune diseases characterized...
BACKGROUND
Juvenile Dermatomyositis (JDM) is the leading cause of non-infectious inflammatory myopathy in children. It is a heterogeneous group of autoimmune diseases characterized by a variable combination of muscular, dermatological, and visceral involvement. Myositis-specific autoantibodies help define homogeneous subgroups with common clinical characteristics and prognoses. Anti-SAE (small ubiquitin-like modifier 1 (SUMO-1) activating enzyme) antibodies are among the most recently discovered specific autoantibodies. The presence of these antibodies is very rare, making it challenging to define clinical features and prognosis in the juvenile form. We report the first case of an African patient with juvenile dermatomyositis and positive anti-SAE antibodies.
CASE REPORT
A 5-year-3-month-old Moroccan boy presented to the pediatric emergency department with dysphagia that had been evolving for two days, preceded two months earlier by facial erythema associated with fatigue, lower limb pain, difficulty walking, and progressive inflammatory polyarthralgia. On admission, the child had a heliotrope rash with predominant pseudo-angioedema on the lips, periungual telangiectasia, and Gottron's papules over the bilateral interphalangeal and metatarsophalangeal joints. The patient had a more pronounced proximal muscle weakness in the lower limbs. He had no urticaria, fever, arthritis, calcinosis, cutaneous ulcers, or lipodystrophy. The Joint examination was normal, as was the pleuropulmonary examination. The electroneuromyography showed myogenic changes in all four limbs. Laboratory findings showed elevated levels of creatine phosphokinase and lactate dehydrogenase and a mild inflammatory syndrome. The electrocardiogram was normal. The anti-SAE antibodies were positive. The boy was diagnosed with juvenile dermatomyositis. He received methylprednisolone bolus therapy followed by oral prednisone. The latter was gradually tapered in combination with weekly intramuscular methotrexate. As a result, dysphagia disappeared within 48 h. After two weeks, there was an improvement in the muscular score and a significant regression of facial pseudo-angioedema.
CONCLUSION
We report the first African patient with anti-SAE autoantibody-positive JDM. He had a typical dermatological manifestation of JDM associated with pseudo-angioedema predominant on the lips; a rarely reported sign in DM and JDM patients. The patient responded well to corticosteroid therapy and methotrexate.
Topics: Humans; Male; Dermatomyositis; Autoantibodies; Child, Preschool; Ubiquitin-Activating Enzymes; Morocco
PubMed: 38773611
DOI: 10.1186/s12969-023-00921-9 -
Scleroderma-Polymyositis Overlap Syndrome as a Potential Bulbar Amyotrophic Lateral Sclerosis Mimic.Journal of Clinical Neuromuscular... Jun 2024
Topics: Humans; Amyotrophic Lateral Sclerosis; Polymyositis; Male; Middle Aged; Female; Diagnosis, Differential; Scleroderma, Systemic
PubMed: 38771230
DOI: 10.1097/CND.0000000000000467 -
International Journal of Rheumatic... May 2024
Topics: Humans; Dermatomyositis; Lung Diseases, Interstitial; Interferon-Induced Helicase, IFIH1; Treatment Outcome; Autoantibodies; Immunosuppressive Agents; Female
PubMed: 38769940
DOI: 10.1111/1756-185X.15201 -
Dermatology Online Journal Mar 2024
Topics: Humans; Dermatomyositis; Lung Diseases, Interstitial; Interferon-Induced Helicase, IFIH1; Female; Middle Aged; Autoantibodies; Male; Aged; Adult
PubMed: 38762870
DOI: 10.5070/D330163301 -
PloS One 2024Dermatomyositis (DM) is prone to nasopharyngeal carcinoma (NPC), but the mechanism is unclear. This study aimed to explore the potential pathogenesis of DM and NPC.
BACKGROUND
Dermatomyositis (DM) is prone to nasopharyngeal carcinoma (NPC), but the mechanism is unclear. This study aimed to explore the potential pathogenesis of DM and NPC.
METHODS
The datasets GSE46239, GSE142807, GSE12452, and GSE53819 were downloaded from the GEO dataset. The disease co-expression module was obtained by R-package WGCNA. We built PPI networks for the key modules. ClueGO was used to analyze functional enrichment for the key modules. DEG analysis was performed with the R-package "limma". R-package "pROC" was applied to assess the diagnostic performance of hub genes. MiRNA-mRNA networks were constructed using MiRTarBase and miRWalk databases.
RESULTS
The key modules that positively correlated with NPC and DM were found. Its intersecting genes were enriched in the negative regulation of viral gene replication pathway. Similarly, overlapping down-regulated DEGs in DM and NPC were also enriched in negatively regulated viral gene replication. Finally, we identified 10 hub genes that primarily regulate viral biological processes and type I interferon responses. Four key genes (GBP1, IFIH1, IFIT3, BST2) showed strong diagnostic performance, with AUC>0.8. In both DM and NPC, the expression of key genes was correlated with macrophage infiltration level. Based on hub genes' miRNA-mRNA network, hsa-miR-146a plays a vital role in DM-associated NPC.
CONCLUSIONS
Our research discovered pivot genes between DM and NPC. Viral gene replication and response to type I interferon may be the crucial bridge between DM and NPC. By regulating hub genes, MiR-146a will provide new strategies for diagnosis and treatment in DM complicated by NPC patients. For individuals with persistent viral replication in DM, screening for nasopharyngeal cancer is necessary.
Topics: Humans; Nasopharyngeal Neoplasms; Dermatomyositis; Computational Biology; MicroRNAs; Gene Regulatory Networks; Nasopharyngeal Carcinoma; Gene Expression Regulation, Neoplastic; Gene Expression Profiling; Protein Interaction Maps; RNA, Messenger; Databases, Genetic
PubMed: 38753689
DOI: 10.1371/journal.pone.0296034 -
Internal Medicine (Tokyo, Japan) 2024Anti-melanoma differentiation-associated gene 5 (MDA5) antibody-positive clinically amyopathic dermatomyositis (CADM) is a subtype of dermatomyositis without severe...
Anti-melanoma differentiation-associated gene 5 (MDA5) antibody-positive clinically amyopathic dermatomyositis (CADM) is a subtype of dermatomyositis without severe myositis but with characteristic cutaneous manifestations and severe interstitial lung disease. Joint symptoms can occur in patients with anti-MDA5 antibody-positive CADM. However, the treatment strategy and utility of ultrasound for treating joint symptoms remain unknown. We herein report an 85-year-old man with anti-MDA5 antibody-positive CADM who presented with ultrasound-confirmed synovitis that improved with medium-dose corticosteroid therapy.
Topics: Humans; Dermatomyositis; Male; Interferon-Induced Helicase, IFIH1; Aged, 80 and over; Synovitis; Autoantibodies; Ultrasonography; Adrenal Cortex Hormones; Treatment Outcome
PubMed: 38749761
DOI: 10.2169/internalmedicine.2382-23 -
The Journal of Rheumatology May 2024Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of autoimmune disorders classically characterized by proximal skeletal muscle inflammation leading to...
Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of autoimmune disorders classically characterized by proximal skeletal muscle inflammation leading to weakness, but they often possess additional systemic manifestations such as cutaneous, pulmonary, and articular disease. Although originally dichotomized as either dermatomyositis (DM) or polymyositis, the discovery of new myositis-specific antibodies (MSA) and myositis-associated antibodies has led to the delineation of more refined IIM patient subgroups.
PubMed: 38749563
DOI: 10.3899/jrheum.2024-0108