Clinical Rheumatology最新文献

Objective: Rheumatoid arthritis (RA) is frequently treated with traditional Chinese medicine (TCM), where patients are classified into distinct syndromes, such as heat-dampness syndrome (HD) and kidney-liver deficiency syndrome (KLD). However, an objective and systematic approach to differentiate these TCM syndromes remains lacking. This study is aimed at analyzing serum metabolomics to identify differential metabolites and pathways associated with HD and GS syndromes in RA patients and at evaluating their potential as diagnostic biomarkers.

Methods: Serum samples from RA patients classified into HD and KLD groups were analyzed using metabolomics. Partial least squares discriminant analysis was employed to identify significant metabolites, while pathway analysis was conducted using the Kyoto Encyclopedia of Genes and Genomes database. Receiver operating characteristic (ROC) curve analysis was performed to assess the diagnostic potential of key metabolites.

Results: Fifteen differential metabolites and two perturbed pathways-sphingolipid and D-amino acid metabolism-were identified between the KLD and HD groups. Notably, several metabolites, including C17-sphinganine and leucyl-alanine, demonstrated high diagnostic efficacy, with area under the curve (AUC) values exceeding 0.90. Correlation analysis revealed significant associations between certain metabolites and clinical indices, further substantiating their role in syndrome differentiation.

Conclusion: This study presents a comprehensive analysis of serum metabolites in RA patients under different TCM syndromes. The identified metabolites hold potential as biomarkers for distinguishing HD and KLD groups, paving the way for more objective and evidence-based diagnostic approaches in TCM. Key Points • Differential metabolites were identified in the serum of RA patients with heat-dampness syndrome and kidney-liver deficiency syndrome, with their metabolic pathways primarily involving sphingolipid metabolism and D-amino acid metabolism. • Serum metabolites demonstrate high efficacy in distinguishing RA patients with different TCM syndromes. • Significant correlations were observed between serum differential metabolites and clinical indicators in RA patients with varying TCM syndromes.

Objectives: This study aimed to investigate the differences between neuropsychiatric systemic lupus erythematosus (NPSLE) patients with and without white matter hyperintensity (WMH) on magnetic resonance imaging (MRI) and to identify factors independently associated with the development of WMH in NPSLE.

Method: A comparative analysis was conducted on 84 NPSLE patients hospitalized at Peking University People's Hospital from 2015 to 2022 at the initial diagnosis of NPSLE. Patients were categorized based on the presence of WMH on brain MRI scans. Demographic data, clinical characteristics, and laboratory parameters were reviewed and statistically analyzed.

Results: The study included 84 NPSLE patients, 50% exhibiting WMH (NPSLE-WMH +). At the initial diagnosis of NPSLE, the NPSLE-WMH + group showed significantly higher levels of antinuclear antibody (ANA) titer, anti-double-stranded DNA antibody (anti-dsDNA), anti-nucleosome antibody (ANuA), and lower serum C3 levels. The proportion of patients with reduced WBC, elevated anti-dsDNA, elevated ANuA, elevated anticardiolipin antibody (ACA), positive urinary protein (UPR), and positive ANA was higher in the NPSLE-WMH + group. Univariate and multivariate analyses revealed that positive UPR (p = 0.040), positive ANA (p = 0.025), elevated anti-dsDNA (0.047), and elevated ACA (p = 0.025) were potentially independent factors associated with WMH development in NPSLE patients.

Conclusions: This study provides novel insights into the clinical and laboratory differences between NPSLE patients with and without WMH, identifying specific independently associated factors for WMH development. These findings may contribute to a better understanding of this intricate disease. Key Points • Although WMH is one of the most frequently observed lesions on MRI in patients with NPSLE, previous literature has given limited attention to it. This study focuses on the differences between NPSLE patients with and without WMH, unveiling independently associated factors for developing WMH in this disease.

Background: Rheumatoid arthritis (RA) is an autoimmune disease of the joints with occasional involvement of extra-articular organs. Although rheumatoid factor (RF) is associated with more severe baseline disease severity and a higher incidence of extraarticular diseases, whether it predicts response to treatment in patients taking conventional disease-modifying antirheumatic drugs (DMARDs) is unclear as evidence has so far been conflicting.

Methods: A 3-year (January 2021 to December 2023) multicenter retrospective cohort study was done at 1 public and 4 private hospitals in Addis Ababa, Ethiopia. After categorizing eligible patients into RF-positive and RF-negative, they were retrospectively followed for 12 months. A disease activity score in 28 joints (DAS-28) score of less than 2.6 was used to define remission. The time-to-remission between the two groups was compared using the Kaplan-Meier survival function. In order to control for potential confounders, the Cox regression model was used to calculate adjusted hazard ratios (AHR).

Results: After screening a total of 676 patients, 207 were found to be eligible for the study. The median (interquartile range (IQR)) age at diagnosis was 46 (36 - 58) years, and 171 (82.6%) were female. At 12 months of follow-up, remission occurred in 39.4% of RF-positive patients and 60.0% of RF-negative patients (AHR, 0.57; 95% confidence interval (CI), (0.368-0.88; P = 0.012). The overall remission rate was 47.3%.

Conclusion: In this study, among patients taking conventional DMARDs, RF-negative RA patients achieved better remission rates compared to RF-positive patients. The study provides insight into the association between RF status and treatment outcome among RA patients in a resource-limited setting. Key Points • Our work adds to the existing body of knowledge regarding the relationship between RF positivity and response to treatment in patients with RA. It is also the first study to examine this association in a previously understudied population of Sub-Saharan Africa.

Introduction /objectives: International guidelines recommend screening for latent tuberculosis infection (LTBI) and chronic viral hepatitis infections before initiating intensified immunosuppressive therapy. We assessed the prevalence of positive screening tests for LTBI, hepatitis B virus (HBV), and hepatitis C virus (HCV) in patients screened at a large rheumatology outpatient center in Germany.

Method: This retrospective cohort study used electronic health records from adult rheumatology patients. The presence of LTBI was evaluated by chest X-rays, patient medical history/self-report, and QuantiFERON®-TB Gold Plus (QFT) interferon-gamma release assays. Antibodies to HBV core antigen (anti-HBc) and HCV were used to assess HBV and HCV, respectively. Statistically significant associations were evaluated by Fisher exact tests.

Results: Of 697 screened patients with a rheumatological condition (61.3% female, mean age 60.0 years), 132 (18.9%) patients were positive for LTBI (99 [14.2%]), anti-HBc (39 [5.6%]), or anti-HCV (3 [0.4%]). Nine patients had more than one positive result; different infections were not significantly associated. QFT detected the most LTBI cases (59.5%) followed by patient report/history (42.4%) and chest X-rays (17.2%). Although most patients (83.8%) were positive on only one test, associations among LTBI tests were statistically significant. Biologic disease-modifying antirheumatic drug (bDMARD) use was lower in patients with a positive LTBI screening result compared with all screened patients (73.7% vs 86.4%) and targeted synthetic DMARD (tsDMARD) use was higher (10.1% vs 5.9%).

Conclusions: Almost one-fifth of rheumatology patients preparing to initiate intensified immunosuppressive therapy have positive results on screening tests for LTBI or show evidence of exposure to HBV or HCV. These findings support the need for careful screening, even in "low-prevalence" countries.

To assess the impact of fulranumab intervention on osteoarthritis (OA) patients and offer a clinically relevant, evidence-based guide for fulranumab intervention in patients with OA. RevMan 5.4 was utilized to conduct a meta-analysis after relevant data on randomized controlled trials of therapeutic interventions for patients with OA were gathered from literature databases such PubMed, Embase, Web of Science, and the Cochrane Library. A total of 8 randomized controlled studies were included, including 1927 patients with osteoarthritis. Meta-analysis showed that compared with the control group, fulranumab intervention had more gains, (MD = - 6.76, 95% CI [- 13.37 to - 0.15]; Z = 2.00; P = 0.05), WOMAC pain (3 mg, week 17) (MD = - 0.78, 95% CI [- 1.10 to - 0.46]; Z = 4.79; P < 0.00001), BPI-SF: pain intensity score (1 mg, week 12) (MD = - 4.29, 95% CI [- 9.15 to 0.57]; Z = 1.73; P = 0.08), and BPI-SF: pain interference (1 mg, week 12) (MD = - 5.98, 95% CI [- 6.64 to - 5.32]; Z = 17.84; P < 0.00001). When used in conjunction with nerve growth factor (NGF) therapy, fulranumab offers an efficient osteoarthritis therapeutic alternative. Patients with osteoarthritis can have a considerable improvement in their WOMAC, short pain inventory, patient global assessment scores, clinical symptoms, and overall quality of life. One possible therapeutic approach for the condition might be to use fulranumab.

Backgrounds: To reveal rare genetic factors that cause susceptibility to idiopathic granulomatous mastitis (IGM).

Methods: Whole exome sequencing (WES) was performed in 30 patients with histopathologically diagnosed idiopathic granulomatous mastitis. WES analysis mainly focused on 317 genes linked to autoimmunity, autoinflammation, and immune dysregulation.

Results: A total of 141 variants were detected in 100 genes. The 40% (12/30) of patients had pathogenic or likely pathogenic variants. The pathogenic/likely pathogenic variants were 10.6% of all variants, and the rest of the variants (89.4%) were classified as VUS. Most of the variants were heterozygous (97.2%) only 4 variants (2.8%) were homozygous. Pathogenic/likely pathogenic variants were detected in FCGR1A, MPO, F5, IL36RN, CLUH, C9, NAXD, PROC, THRB, IFI30, COQ2, RNASEH2B, and SLC29A3 genes. The highest number of variants were detected in UNC13D, VPS13B, EPHB4, NLRP12, TCIRG1, TOM1, IRF9, and PIK3CG.

Conclusion: Up to date, our study is the first whole exome sequencing study of IGM patients which aims to find out the rare variants related to etiopathogenesis of the disease. We identified 141 single nucleotide variants of 100 genes, and most of these variants were found in innate immunity-related genes. The current study provides clues for identifying the etiologic factors and designing further functional studies in this rare disease with unknown etiopathogenesis. Key Points •Autoimmunity/autoinflammation-related genetic factors are blamed for etiopathogenesis of idiopathic granulomatous mastitis (IGM). •Mutation in genes related to innate immunity, especially in macrophage functions and phagocytosis, may lead to IGM susceptibility. •Potential candidate genes for genetic susceptibility to IGM may shed light for new treatment options.

Introduction: Sjögren's syndrome (SS) is a chronic, systemic, and autoimmune disease characterized by lymphocytic infiltration of all exocrine glands, primarily the lacrimal and salivary glands. Chemokines play a key role in many inflammatory diseases. They play a fundamental role in recruitment, transport, and activation of immune cells. This study aimed to investigate the role of CXCL9, CXCL10, and CXCL13 chemokines in primary SS patients.

Method: The study included 62 SS patients and 68 individuals without known systemic or rheumatological disease. CXCL9, CXCL10, and CXCL13 levels were analyzed in both groups using ELISA test kits and compared. The mean age of SS and healthy controls (HC) were similar. White blood cell neutrophil and lymphocyte values were found significantly lower in the SS compared to the HC; ESR value was higher in SS. Other hemogram parameters such as hemoglobin, platelets, monocytes, and CRP did not show a significant difference. CXCL10 levels were found to be significantly higher in SS compared to HC. CXCL13 level was significantly lower in SS. However, there was no statistically significant difference in CXCL9 serum between SS and HC. There was a negative correlation between serum CXCL9 level and lymphocyte and there was also a positive correlation between CXCL13 serum level and leukocyte.

Conclusion: CXCL10 chemokine may serve as a potential biomarker for primary SS and it may also be a new therapeutic target. Key Points • Chemokines play a key role in Sjögren's syndrome. • CXCL10 may serve as a potential biomarker for primary SS.

Background: MicroRNAs (miRNAs) are critical in the onset and treatment of skin diseases, but the miRNAs causally associated with psoriasis (PSO) and psoriatic arthritis (PsA) remain unclear. This study aims to identify miRNAs with causal associations with PSO and PsA.

Methods: Five Mendelian randomization (MR) methods were employed, using miRNA expression quantitative trait loci (mirQTL) data as exposure variables and PSO and PsA as outcome variables. This approach was used to uncover the causal links of miRNAs with both PSO and PsA, with robust sensitivity analyses ensuring the stability of our findings. Finally, miRNet and enrichment analyses were used to predict target genes of the causal miRNAs and their potential biological roles.

Results: Our robust findings indicated that miR-27b-3p, miR-204-5p, and miR-6891-3p were notably associated with an enhanced risk of PSO. Additionally, miR-6891-3p was greatly associated with an enhanced risk of PsA. Conversely, miR-29c-3p, miR-181a-3p, miR-181a-5p, miR-181b-5p, and miR-199a-3p were substantially associated with a reduced risk of both PSO and PsA. Enrichment analyses revealed that the target genes of these causal miRNAs were markedly enriched in biological pathways such as apoptosis, Wnt, and PI3K-AKT signaling.

Conclusion: This study identifies eight miRNAs causally associated with PSO and five miRNAs associated with PsA, with no observed heterogeneity or pleiotropy. These findings offer potential biomarkers for the diagnosis and treatment of PSO and PsA. Key Points • We conducted the first genome-wide MR study to explore the causal relationships between miRNAs and PSO and PsA. • The study found stable and reliable causal effects of 8 miRNAs on PSO and 5 miRNAs on PsA. • These miRNAs provide important insights into elucidating the pathophysiological mechanisms of PSO and PsA and developing new therapeutic approaches.