ABSTRACT
Background: Despite establishing an association between gut microbiota and spondyloarthritis (SpA) subtypes, the causal relationship between them remains unclear. Methods: Gut microbiota data were obtained from the MiBioGen collaboration, and SpA genome-wide association study (GWAS) summary data were obtained from the FinnGen collaboration. We conducted a two-sample Mendelian randomization (MR) analysis using the inverse-variance-weighted method supplemented with four additional MR methods (MR-Egger, weighted median, simple mode, and weighted mode). Pleiotropy and heterogeneity were also assessed. Reverse MR analysis was used to detect reverse causal relationships. Results: We identified 23 causal links between specific gut microbiota taxa and SpA levels. Of these, 22 displayed nominal causal associations, and only one demonstrated a robust causal connection. Actinobacteria id.419 increased the risk of ankylosing spondylitis (AS) (odds ratio (OR) = 1.86 (95% confidence interval (CI): 1.29-2.69); p = 8.63E-04). The family Rikenellaceae id.967 was associated with a reduced risk of both AS (OR = 0.66 (95% CI: 0.47-0.93); p = 1.81E-02) and psoriatic arthritis (OR = 0.70 (95% CI: 0.50-0.97); p = 3.00E-02). Bacillales id.1674 increased the risk of AS (OR = 1.23 (95% CI: 1.00-1.51); p = 4.94E-02) and decreased the risk of enteropathic arthritis (OR = 0.56 (95% CI: 0.35-0.88); p = 1.14E-02). Directional pleiotropy, or heterogeneity, was not observed. No reverse causal associations were observed between the diseases and the gut microbiota. Conclusion: Our MR analysis suggested a genetic-level causal relationship between specific gut microbiota and SpA, providing insights into the underlying mechanisms behind SpA development mediated by gut microbiota.
Subject(s)
Gastrointestinal Microbiome , Spondylarthritis , Spondylitis, Ankylosing , Humans , Mendelian Randomization Analysis , Gastrointestinal Microbiome/genetics , Genome-Wide Association Study , Spondylarthritis/geneticsABSTRACT
Purpose: Hydroxychloroquine is an effective treatment for rheumatic diseases; however, retinal damage is a possible side effect. We aimed to identify the retinal area and related risk factors associated with cone density reduction caused by hydroxychloroquine. Methods: We recorded the retinal images of patients with rheumatic diseases taking hydroxychloroquine (n = 44) and compared them with images of healthy controls (n = 107). Cone density was obtained in vertical and horizontal axes. Regions of decreased cone density and associations between age, rheumatic disease type, dosage for ideal body weight, and cone density were evaluated. Results: Cone densities were significantly lower in hydroxychloroquine-treated patients than in sex- and age-matched controls in the vertical axis (P < 0.001), with no significant difference in the horizontal axis (P = 0.120); in healthy elderly than in healthy young people in the horizontal axis (P < 0.001), with no significant difference in the vertical axis (P = 0.100); in hydroxychloroquine-treated elderly than in hydroxychloroquine-treated young patients in both axes (both P < 0.05); among patients with different rheumatic disease types, with no significant difference in the vertical axis (P = 0.294). The daily dose was negatively correlated with cone density in the vertical axis and inferior quadrant. Conclusions: Hydroxychloroquine reduces retinal cone cell density in the vertical axis. Cone density loss in the horizontal axis increases with age; further, hydroxychloroquine dosage is negatively correlated with cone density in the vertical axis and inferior quadrant. Early screening of hydroxychloroquine-related retinal injury should consider changes in cone density in the vertical axis.
Subject(s)
Eye Injuries , Retinal Diseases , Rheumatic Diseases , Aged , Humans , Adolescent , Hydroxychloroquine/adverse effects , Retinal Cone Photoreceptor Cells , Rheumatic Diseases/drug therapy , Retina/diagnostic imaging , Retinal Diseases/chemically induced , Retinal Diseases/diagnosisABSTRACT
OBJECTIVES: This study aimed to assess the factors influencing bone erosion (BE) in patients with gout using dual-energy gemstone spectral imaging computer tomography. METHODS: We compared the clinical data, laboratory indices, and tissue urate levels at the monosodium urate (MSU) bone interface measured by dual-energy gemstone spectral imaging computed tomography of 87 gout patients with (n = 41) and without (n = 46) BE. Logistic regression analysis was used to investigate the risk factors associated with BE. RESULTS: In total, 47.1% of patients with gout had BE. The disease duration, serum uric acid, tissue urate levels, and the presence of tophi were significantly higher (p < .05) in gout patients with BE than in those without BE. Longer disease duration (odds ratio = 1.11, 95% confidence interval: 1.00-1.24, p < .05) and increased tissue urate levels (odds ratio = 1.01, 95% confidence interval: 1.00-1.02, p < .05) were independently associated with BE. Tissue urate levels at the MSU-bone interface were correlated with the presence of tophi (r = 0.62, p < .001), BE (r = 0.51, p < .001), renal calculus (r = 0.24, p = .03), and serum uric acid levels (r = 0.23, p = .03). CONCLUSIONS: This study found that longer disease duration and elevated tissue urate concentrations at the MSU-bone interface were associated with BE in patients with gout.
Subject(s)
Arthritis, Gouty , Gout , Bone and Bones , Gout/complications , Gout/diagnostic imaging , Humans , Tomography, X-Ray Computed/methods , Uric AcidABSTRACT
Objective: As of date, Kimura disease (KD) has an unclear etiology, no accepted diagnostic standard, and no definite treatment regimen. In this study, clinical and pathological laboratory characteristics and treatment regimens of patients with KD with different tumor sizes and status of tumor recurrence were analyzed. This was performed to identify the factors, which determine tumor size and recurrence, and to identify effective treatment methods for patients with KD. Methods: A total of 33 hospitalized patients with a definite diagnosis of KD were enrolled in this study. Results: There were 15 patients (45.5%) with a maximum tumor diameter of <3 cm. There were no statistically significant differences in age, gender, clinical symptoms, lesion sites, laboratory indicators, and treatment regimens among patients with a maximum tumor diameter <3 cm or ≥3 cm (P > 0.05). Among the 25 patients who completed the follow-up, there were 18 patients (72%) who had a recurrence of KD. There were no statistically significant differences in age, gender, clinical symptoms, the maximum tumor diameter, lesion sites, laboratory indicators, and initial treatment regimens between patients with or without the recurrence of KD (P > 0.05). There was a statistically significant difference in systolic blood pressure (SBP) between patients with or without the recurrence of KD (P < 0.05). All patients who received only surgical treatment had disease recurrence, 33.3% of patients who received prednisone therapy had no disease recurrence, and 37.5% of patients who received combination therapy showed recurrence. Conclusion: The current study summarized clinical manifestations, pathological features, laboratory indicators, and treatment regimens of patients with KD. There were no significant differences in these aspects among patients with different tumor sizes, and there was no significant difference in these aspects except in the SBP between patients with or without the recurrence of KD, indicating that SBP is a significant clinical factor affecting disease recurrence in patients. Combination therapy with prednisone was found to be superior to surgical treatment.
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BACKGROUND: As one kind of osteochondrodysplasia, progressive pseudorheumatoid dysplasia (PPD) is also known as spondyloepiphyseal dysplasia tarda with progressive arthropathy or arthropathy progressive pseudorheumatoid of childhood. PPD is a very rare disease, especially in China, and has an estimated prevalence of 1/1000000 due to lacking definite prevalence survey. It is an autosomal recessive disorder caused by gene mutation of Wntl inducible signaling pathway protein 3 (WISP3). Its basic pathological change is persistent degeneration and loss of articular cartilage in multiple joints. Its clinical appearances include bone enlargement, platyspondyly, irregular endplate, secondary osteoarthritis, extensive osteoporosis, joint rigidity and function loss. Clinical diagnosis of PPD is made based on clinical appearance and imaging examinations, whereas its definite diagnosis depends on gene sequencing. PPD has no severe effect on life span, but causes high disability rate and very poor prognosis. There are only case reports with limited information in China. CASE PRESENTATION: One female patient was diagnosed as PPD and secondary osteoarthritis. She had typical clinical appearance and imaging examinations, and received individualized therapeutic regimens. She had a gene mutation (c.72delT, p.T24TfsX4) of WISP3. This gene mutation has not been reported by previous literatures and included in Single Nucleotide Polymorphism Database. CONCLUSIONS: As the first time, this paper reported a patient with PPD caused by new-found gene mutation (c.72delT, p.T24TfsX4) of WISP3.