4 research outputs found

    DataSheet_1_The clinical features and prognoses of anti-MDA5 and anti-aminoacyl-tRNA synthetase antibody double-positive dermatomyositis patients.docx

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    ObjectiveTo explore the clinical features and prognoses of dermatomyositis (DM) associated with a double-positive anti-MDA5 and anti-aminoacyl-tRNA synthetase (anti-ARS) antibody presentation.MethodsWe retrospectively analyzed 1280 consecutive patients with idiopathic inflammatory myopathy (IIM). Individuals with anti-MDA5 and anti-ARS antibodies (anti-MDA5+/ARS+) were compared to anti-MDA5-/ARS+ and anti-MDA5+/ARS- control individuals based on clinical, pulmonary radiological characteristics, treatment, and follow-up information.ResultsSix individuals (0.47%) presented with anti-MDA5+/ARS+; of these, 2 (33.3%) were anti-PL-12+, 2 (33.3%) were anti-Jo-1+, 1 (16.7%) was anti-EJ+, and 1 (16.7%) was anti-PL-7+. Hallmark cutaneous manifestations, including Gottron’s sign (100%), heliotrope rash (50%), mechanic’s hand (66.7%), and skin ulcers (16.7%) were common. Anti-MDA5+/ARS+ patients tended to have higher ferritin levels (p = 0.038) than anti-MDA5-/ARS+ group, and higher CD4+ T-cell counts (p = 0.032) compared to the anti-MDA5+/ARS- group. Radiologically, NSIP with OP overlap was predominant (60%). Consolidation (60%), ground-glass attenuation (GGA) (80%), traction bronchiectasis (80%), and intralobular reticulation (100%) were common in anti-MDA5+/ARS+ individuals. All were diagnosed with ILD and 50% were categorized as RPILD. All patients received glucocorticoids combined with one or more immunosuppressants. Most (83.3%) had a good prognosis following treatment, but there was no difference in the survival rate between the three subgroups.ConclusionPresentation with anti-MDA5+/ARS+ DM was rare. The clinical and radiological characteristics of anti-MDA5+/ARS+ DM combined the features of anti-MDA5+ and anti-ARS+ individuals. Individuals with anti-MDA5+/ARS+ antibodies may respond well to glucocorticoid therapy; glucocorticoids combined with one or more immunosuppressants may be considered a basic treatment approach.</p

    Additional file 2 of Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population

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    Additional file 2: Table S1. Independent genome-wide significant lead SNPs associated with pulmonary embolism (PE) in the discovery stage and replication stage. Table S2. The allele frequency of identified loci in 1000Genomes. Table S3. Replication of associations for the known loci in our cohort. Table S4. Association results for genes that were significant in FUMA gene-based analysis. Table S5. Polygenic risk score variants. Table S6. Polygenic risk score (PRS) quantile and odds ratio (OR)

    Additional file 1 of Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population

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    Additional file 1: Fig. S1. Regional association plot at genome-wide association study (GWAS) genome-wide significant loci. Fig. S2. Principal component analysis (PCA) plot of Han Chinese PE cohort. Fig. S3. FUMA Manhattan plot and QQ plot of genome-wide association study (GWAS) meta-analysis. Fig. S4. The transfection efficiency of cellular experiments for FABP2. Fig. S5. Low-density lipoprotein cholesterol (LDL-C) levels of patients with different genotypes of rs1799883. Fig. S6. Forest plot for the association of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and triglyceride (TG) with PE. Fig. S7. Ancestry-specific polygenic risk score (PRS) ROC plot. Fig. S8. Performance of different PRSVTE in the CURES testing set
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