Ultrasound-guided microwave ablation as a palliative treatment for mycosis fungoides eyelid involvement: A case report.

BACKGROUND: Mycosis fungoides (MF) is a form of lymphoma derived from heterogeneous T cells, and eyelid involvement is extremely rare. The common methods to treat eyelid involvement are radiotherapy and chemotherapy, but their efficacies are limited. Herein, we report a case of advanced-stage MF eyelid involvement, propose ultrasound (US)-guided microwave ablation (MWA) therapy and present a literature review. CASE SUMMARY: A male patient was admitted to our hospital in June 2018 and diagnosed with MF via radiological and histopathological examinations. The patient's condition was not well controlled by various conventional chemotherapies. US-guided MWA was performed to relieve the patient's symptoms and improve his quality of life, showing satisfactory efficacy. CONCLUSION: Eyelid involvement is one of the most troublesome clinical problems for advanced-stage MF patients. This is the first report on the use of US-guided MWA as a palliative therapy for MF eyelid involvement; the treatment successfully relieved the patient's clinical symptoms and reduced his anxiety behaviours. Our study sheds new light on methods for improving the clinical management of eyelid involvement in MF.

Brief Report: identification of MTMR3 as a novel susceptibility gene for lupus nephritis in northern Han Chinese by shared-gene analysis with IgA nephropathy.

OBJECTIVE: Several novel susceptibility genes for systemic lupus erythematosus (SLE) and IgA nephropathy have been identified in recent genome-wide association studies. Since both lupus nephritis and IgA nephropathy are autoimmune diseases of the kidney, they may share common disease mechanisms that overlap with genetic susceptibility. To test this hypothesis, we sought to identify genetic variants associated with IgA nephropathy in lupus nephritis. METHODS: In the first stage, 500 patients with lupus nephritis, 240 SLE patients without nephritis, and 500 healthy controls were enrolled. Fifteen single-nucleotide polymorphisms (SNPs) that had the topmost association signals with IgA nephropathy were selected for further testing in patients with lupus nephritis. Three independent cohorts from Beijing, Shanghai, and Hong Kong were included as replicates. We also analyzed the functional significance of identified noncoding variants on regulatory motifs and gene expression. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated. RESULTS: In addition to associations with HLA gene polymorphisms, genetic variants of MTMR3 in 22q12 showed associations with lupus nephritis (for rs9983A, OR 1.61 [95% CI 1.19-2.19], P = 2.07 × 10(-3) ) compared to healthy controls in the first stage. Associations were replicated and reinforced among northern Han Chinese (for lupus nephritis patients versus SLE patients without nephritis, P = 0.01) but not southern Han Chinese, although significant genetic heterogeneity was observed. Conservative and regulatory features of rs9983 were predicted in in silico analyses. In expression analysis, we observed lower MTMR3 transcription levels in samples of blood with rs9983A and in renal biopsy samples from lupus nephritis and IgA nephropathy patients. CONCLUSION: Our results suggest that the MTMR3 gene is shared between IgA nephropathy and lupus nephritis in the northern Chinese population, further highlighting the role of autophagy in SLE. However, widespread replication of these experiments, fine mapping, and functional assays are required to establish this connection.

Infliximab monotherapy for Chinese patients with moderate to severe plaque psoriasis: a randomized, double-blind, placebo-controlled multicenter trial.

BACKGROUND: Tumor necrosis factor-α is a key mediator in the pathogenesis of psoriasis. Infliximab is a monoclonal antibody that specifically binds to tumor necrosis factor-α. The purpose of this study was to validate the efficacy and safety of 5 mg/kg infliximab therapy in Chinese patients with moderate to severe plaque psoriasis. METHODS: In this multicenter, double-blind, placebo-controlled trial, 129 patients with moderate-to-severe psoriasis were randomized to the induction therapy (weeks 0, 2 and 6) with infliximab 5 mg/kg (n = 84) or placebo (n = 45), followed with infliximab 5 mg/kg scheduled at week 14 and week 22 in the infliximab group, and infliximab 5 mg/kg scheduled at weeks 10, 12 and 16 in the placebo group. The primary end point was the proportion of patients who achieved at least 75% improvement in Psoriasis Area and Severity Index (PASI 75 response rate) from baseline at week 10. RESULTS: At week 10, 81.0% of patients treated with infliximab (5 mg/kg) achieved a 75% or greater improvement compared with 2.2% of patients treated with placebo (P < 0.001). A significant improvement in PASI, Physician's Global Assessment (PGA) and Dermatology Life Quality Index (DLQI), was seen from week 6 through week 14 in the infliximab group compared with the placebo group. Through week 22, PASI, PGA, DLQI were well maintained. The incidence of adverse events for the infliximab treatment group was slightly higher in comparison to the placebo treatment group during the first 10 weeks without statistical significance. However, there were 3 cases of tuberculosis that developed during the 26 weeks treatment with infliximal. CONCLUSIONS: Infliximab treatment was effective as induction and maintenance treatments for Chinese patients with moderate to severe plaque psoriasis. Most drug-induced adverse events were mild to moderate, and well tolerated. Screening for tuberculosis is essential and prophylactic treatment should be given if necessary.

Gene-gene interaction of BLK, TNFSF4, TRAF1, TNFAIP3, and REL in systemic lupus erythematosus.

OBJECTIVE: Although the number of convincingly established genetic associations with systemic lupus erythematosus (SLE) has increased sharply over the last few years, refinement of these associations is required, and their potential roles in gene-gene interactions need to be further investigated. Recent genome-wide association studies (GWAS) in SLE have produced renewed interest in B cell/T cell responses and the NF-κB signaling pathway. The aim of this study was to search for possible gene-gene interactions based on identified single-nucleotide polymorphisms (SNPs), in using an approach based on the role of signaling pathways. METHODS: The SNPs in BLK, TNFSF4, TRAF1, TNFAIP3, and REL were replicated in order to evaluate genetic associations with SLE. TaqMan genotyping was conducted in 804 Chinese patients with SLE and 722 matched control subjects. A multiple logistic regression model was used to estimate the multiplicative interaction effect of the SNPs, and additive interactions were analyzed by 2×2 factorial designs. Data from a previously published GWAS conducted by the International Consortium on the Genetics of Systemic Lupus Erythematosus were derived for comparison and validation. RESULTS: Single-marker analysis validated the association of BLK rs2736340 (P=4.25×10(-6)) as well as TNFSF4 rs2205960 (P=2.82×10(-5)) and TNFAIP3 rs5029939 (P=1.92×10(-3)) with SLE susceptibility in Chinese. Multiplicative interaction analysis indicated that BLK had an interactive effect with TNFSF4 in Chinese patients with SLE (P=6.57×10(-4)). Additive interaction analysis revealed interactions between TRAF1 and TNFAIP3 in both Chinese (P=2.18×10(-3)) and Caucasians (P=2.86×10(-4)). In addition, multiple tendencies toward interactions were observed, and an additive effect was observed as the number of risk genotypes increased. CONCLUSION: The results of this study provide evidence of the possible gene-gene interactions of BLK, TNFSF4, TRAF1, TNFAIP3, and REL in SLE, which may represent a synergic effect of T cells and B cells through the NF-κB pathway in determining immunologic aberration.

Detection of anti-C1q antibodies and anti-C1q globular head domain antibodies in sera from Chinese patients with lupus nephritis.

Serum anti-C1q antibodies are associated with disease activity in patients with lupus nephritis. Recent studies showed that anti-C1q antibodies recognize both the collagen region and the globular head regions (gC1q) of individual A (ghA), B (ghB), and C (ghC) chains of C1q molecules. However, the clinical significance of anti-gC1q antibodies was not clear. This study is to investigate the frequency of antibodies against different parts of C1q molecule in sera from patients with lupus nephritis and their clinical significance. Sera from 83 patients with renal biopsy-proven lupus nephritis were collected at the day of renal biopsy. Sera from 30 patients with non-renal SLE (NR-SLE) and 100 healthy donors were used as controls, Serum anti-C1q antibodies, anti-collagen-like region (C1qCLR) antibodies, anti-globular head region (C1qGR) antibodies and anti-ghA, anti-ghB and anti-ghC antibodies were screened by ELISA using purified human C1q, C1qCLR, C1qGR and recombinant ghA, ghB and ghC as solid phase antigens. The association of these antibodies and clinical and histopathological features was further studied. The frequencies of positive anti-C1q and anti-C1qCLR antibodies in lupus nephritis group (46/83, 55.4%; 36/83, 43.4%, respectively) were significantly higher than that in patients with NR-SLE (4/30, 13.3%, P<0.001; 5/30, 16.7%, P=0.005, respectively) and healthy donors (5/100, 5.0%, P<0.001; 4/100, 4%, P<0.001, respectively). The levels of both SLE Disease Activity Index (SLEDAI) and renal biopsy Activity Index (AI) of patients were correlated with the levels of anti-C1q antibodies (r=0.520, P<0.001; r=0.321, P=0.003, respectively) and anti-C1qCLR antibodies (r=0.387, P<0.001; r=0.261, P=0.019, respectively). The levels of anti-C1q antibodies were closely correlated with that of anti-C1qCLR antibodies (r=0.588, P<0.001). However, the prevalence of anti-C1qGR, anti-ghA, anti-ghB and anti-ghC antibodies in lupus nephritis group was only 1.2% (1/83), 3.6% (3/83), 2.4% (2/83) and 8.4% (7/83), respectively, which were comparable with that of NR-SLE and normal controls. In conclusion, serum anti-C1q antibodies and anti-C1qCLR antibodies are closely associated with disease activity in patients with lupus nephritis. However, gC1q might not be the dominant epitope of C1q molecule.