Summary Behçet disease is a multi‐system disease associated with human leukocyte antigen (HLA) class I polymorphism. High‐resolution next‐generation sequencing (NGS) with haplotype analysis has not been performed previously for this disease. Sixty Egyptian patients diagnosed according to the International Study Group (ISG) criteria for Behçet disease and 160 healthy geographic and ethnic‐matched controls were genotyped for HLA class I loci (HLA‐A, B, C). For HLA class II loci (DRB1, DRB3/4/5, DQA1, DQB1, DPA1, DPB1), 40 control samples were genotyped. High‐resolution HLA genotyping was performed using NGS and the results were analyzed. Clinical manifestations were oral ulcers (100%), genital ulcers (100%), eye (55%) and neurological (28%) and vascular involvement (35%). HLA‐B*51:08 [odds ratio (OR) = 19·75, 95% confidence interval (CI) = 6·5–79; P < 0·0001], HLA‐B*15:03 (OR = 12·15, 95% CI = 3·7–50·7; P < 0·0001), HLA‐C*16:02 (OR = 6·53, 95% CI = 3–14; P < 0·0001), HLA‐A*68:02 (OR = 3·14, 95% CI = 1·1–8·9; P < 0·01) were found to be associated with Behçet disease, as were HLA‐DRB1*13:01 and HLA‐DQB1*06:03 (OR = 3·39, 95% CI = 0·9–18·9; P = 0·04 for both). By contrast, HLA‐A*03:01 (OR = 0·13, 95% CI = 0–0·8; P = 0·01) and HLA‐DPB1*17:01 were found to be protective (OR = 0·27, 95% CI = 0·06–1·03; P = 0·02). We identified strong linkage disequilibrium between HLA‐B*51:08 and C*16:02 and A*02:01 in a haplotype associated with Behçet disease. HLA‐B*51:08 was significantly associated with legal blindness (OR = 2·98, 95% CI = 1·06–8·3; P = 0·01). In Egyptian Behçet patients, HLA‐B*51:08 is the most common susceptibility allele and holds poor prognosis for eye involvement.
Aim:To evaluate the significance of rheumatic hand manifestations in chronic HCV patients. methods: Two hundred and ninety seven HCV patients were subjected to history taking, clinical examination, laboratory investigations including erythrocytic sedimentation rate (ESR), C-reactive protein (CRP), rheumatoid factor (RF), antinuclear antibody (ANA) and anti-cyclic citrullinated peptide (Anti-CCP) and plain X-ray for hands and wrists. Results: The range of patients' age was 18-82 years (43.97±13.56). Their disease duration ranged from 6 months to 25 years (7.3+5.6).Hand affection was present in 137 patients (46.1%). The most frequent hand manifestations were arthralgia (28.6%), tenosynovitis (10.1%), Raynaud's phenomenon (9.1%), and arthritis (5.1%), while laboratory abnormalities were RF in (38.4%), ANA in (6.4%), cryoglobulins in (9.4%) and Anti-CCP in (1.3%). Female gender was the most important risk factors for hand manifestations. The patterns of arthritis in chronic HCV patients were non deforming polyarticular arthritis that affected the small joints of the hands and oligoarthritis. ConClusion: Our study strongly supports a direct role of HCV in inducing rheumatic hand manifestations and autoantibodies in chronic HCV patients, but it is mostly non-deforming and nonsignificant. Surveillance is needed for the detection of rheumatic manifestations and autoantibodies with occasional multidisciplinary team (hepatologist and rheumatologist) approach to HCV patients for early diagnosis and treatment. A long term follow up study for rheumatological manifestations in HCV patients is recommended to reduce health disparities.
The prevalence of subclinical amyloidosis by AFAB was found to be (13.3%). The use of AFAB should be encouraged, particularly in patients with longer disease duration and low haemoglobin level to confirm early detection of subclinical amyloidosis.
Background(LN)Lupus nephritis is a major risk for overall morbidity and mortality in SLE (Systemic lupus erythromatosis), and despite potent anti-inflammatory and immunosuppressive therapies still ends in Chronic Kidney Disease(CKD) or End Stage Renal Disease (ESRD) for too many patients. Renalase is a novel, kidney secreted cytokine-like protein that promotes cell survival.Aim of the workstudying the relationship between level of Human Serum Renalase (RNLS) with LN and its role in the disease activity and progression.MethodsFor The current cross-sectional study 23 healthy controls and 48 patients with LN were screened and 30 subjects were selected These patients were subdivided into two equal groups according to disease activity measured by SLEDAI (SLE Disease Activity Index). Human Serum Renalase (RNLS) concentration was measured by a highly sensitive, commercial sandwich enzyme immunoassay which uses (RNLS) antibody to capture Renalase from serum. Assessment before and after treatment was done for 17 patients who received prednisone and immunosuppressive therapy were recruited and followed up for three months to evaluate the serum renalase levels before and after treatment.ResultsThe level of renalase was significantly higher in LN patients compared to healthy controls, (P value<0.001). Moreover, patients with active LN had higher serum renalase levels compared to patients with inactive LN( P value<0.005) Serum renalase levels were positively correlated with SLEDAI, 24 hour urine protein excretion, ds-DNA and ESR and CRP but inversely correlated with serum C3 and the class (especially in prolferative type (Class III, IV, more than class V). Renalase amounts decreased significantly after three-months of standard therapy. Also we found there is insignificant difference of renlase level according to treatment by MMF(mycophenolate mofetil) and Cyclophosphamide during and after activity (P value=0.655, 0.550)ConclusionsSerum renalase levels were correlated with disease activity in LN. Serum renalase might serve as a potential indicator for disease activity in LN.
§ Defined as ! grade 1 grey scale synovitis and £ grade 1 power-Doppler. * p<0,001; ‡p=0,006 Conclusion:The clinical evaluation of MCP showed a better performance than clinical evaluation of PIP. The high NPV of clinical examination makes its suitable to be used to rule out MCP and PIP involvement in patients with early arthritis. The performance of the two assessment strategies on the same day may increase agreement and diagnostic certainty. REFERENCES[1] -Colebatch AN, et al. EULAR recommendations for the use of imaging of the joints in the clinical management of rheumatoid arthritis. Annals of the Rheumatic Diseases 2013;72:804-814. [2] -McHugh. Interrater reliability: the kappa statistic. Biochem Med (Zagreb). 2012;22(3):276-82.
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