Prevalence and significance of MEFV gene mutations in patients with sarcoidosis.

OBJECTIVES: Sarcoidosis is a chronic granulomatous disease. Pyrin has anti-inflammatory activity in the regulation of inflammasomes and is encoded by the Mediterranean fever (MEFV) gene. MEFV gene mutations trigger the inflammatory cascade and cause familial Mediterranean fever (FMF). A relationship between various rheumatic diseases and MEFV gene mutations has been demonstrated. The aim of this study was to determine the prevalence of the MEFV gene mutation in Turkish patients with sarcoidosis and to detect any possible correlation with disease phenotype. METHOD: The study included 78 sarcoidosis patients and 85 healthy subjects matched for age, gender, and ethnicity. MEFV gene mutations were investigated with the FMF strip assay, which is based on reverse hybridization of biotinylated polymerase chain reaction (PCR) products. RESULTS: Of the 78 patients with sarcoidosis, nine (11.5%) were found to be carriers of MEFV gene mutations. The distribution of these nine mutations were: three (3.8%) V726A, two (2.5%) E148Q, two (2.5%) M680I, one (1.3%) A744S, and one (1.3%) K695R. Carriers of M694V, M694I, R761H, and P369S were not detected in any of the sarcoidosis patients. None of the sarcoidosis patients were found to be compound heterozygous carriers. The prevalence of the MEFV gene mutation carrier detected in the healthy control group was 22.4%. The distribution of the 19 MEFV gene mutations found in the healthy controls was: nine (10.6%) E148Q, two (2.3%) M694V, one (1.2%) M694I, one (1.2%) M680I, two (2.3%) V726A, one (1.2%) A744S, two (2.3%) K695R, and one (1.2%) P369S. When compared with the control group, a lower prevalence of the MEFV gene mutation carrier was found in sarcoidosis patients but this was not statistically significant (p = 0.067). In nine patients found to be MEFV gene mutation carriers, higher serum erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels and higher numbers patients with arthritis, enthesitis, and ankle arthritis were found (p = 0.01, p = 0.04, p = 0.028, p = 0.05, p = 0.05, respectively). CONCLUSIONS: When we compared Turkish sarcoidosis patients with the healthy control group, we found a lower prevalence of MEFV gene mutations. In sarcoidosis patients, the MEFV gene mutation carrier was found to be related to high acute-phase responses, arthritis, and enthesitis. The existence of MEFV gene mutations may have a preventive role with regard to the development of sarcoidosis. Prospective studies that include larger patient populations are needed.

Anti-cyclic citrullinated peptide antibodies in patients with sarcoidosis.

INTRODUCTION: Anti-cyclic citrullinated peptide (anti-CCP) antibodies have a high predictive value in rheumatoid arthritis (RA) patients and are associated with disease severity. Sarcoidosis is a chronic inflammatory disease characterized by non-calcified granuloma formations. AIM: To determining the prevalence of anti-CCP antibodies in patients with sarcoidosis, and identifying a possible correlation with clinical and laboratory findings. MATERIALS AND METHODS: Forty-two patients presenting to the rheumatology polyclinic and diagnosed with sarcoidosis as a result of the examinations made, 45 RA patients and 45 healthy subjects were included in the study. Demographic, clinical, serological and radiological data of all patients were recorded. Anti-CCP antibodies were evaluated by using a second-generation ELISA method. Rheumatoid factor (RF) IgM was determined with the nephelometry method. RESULTS: Forty-two patients (10 males) were included in the study. Mean patient age was 45.2 years (20-70 years) and mean duration of disease was 3.5 years. Two sarcoidosis patients (4.7%) and 38(84.4%) RA patients were found to be positive for anti-CCP antibodies while the antibody wasn't detected in any healthy subject. The two sarcoidosis patients found positive for anti-CCP were also diagnosed with rheumatoid arthritis. RF positivity was detected in 7 sarcoidosis patients (16.6%) and in only one subject in the control group. CONCLUSION: The prevalence of anti-CCP antibodies in patients with sarcoidosis was found to be significantly lower than RA patients and similar with the healthy control group. This result shows that anti-CCP antibodies don't have an important role in the pathogenesis of sarcoidosis, but could be important in revealing the overlap syndromes of sarcoidosis-RA.

The effectiveness of whole body magnetic resonance imaging (diffusion-weighted imaging and fat saturated T2-weighted imaging) in the evaluation of patients with newly diagnosed malignancies in comparison with positron emission tomography-computed tomography.

PURPOSE: To evaluate the effectiveness of WB-MRI for the detection of primary and metastatic lesions in comparison to PET-CT in patients with newly diagnosed malignancies MATERIAL AND METHODS: In this prospective study, 36 patients were evaluated between August 2008 and October 2012. The findings of WB-MRI (DWI and fat saturated T2 weighted images) were compared to the findings of PET-CT re- garding the primary lesions and metastasis. Sensitivity, specificity, positive and negative predictive values were calculated. To assess the aggreement between PET-CT and WB-MRI, kappa analysis was performed. RESULTS: The sensitivity, specificity, positive and negative predictive values for WB-DWI for the detection of primary and metastatic lesions in comparison to PET-CT were 96%, 89%, 97% and 84%, respectively. These are calculated as 96%, 56%, 90% and 77%, for fat-saturated T2W images. According to kappa analysis, the agreement between PET-CT and WB-DWI was excellent (χ = 0.83), but between PET-CT and fat-saturated T2 weighted images, it was moderate (χ = 0.58). CONCLUSION: Providing both morphogical and functional data, WB-MRI with DWI is emerging as a promising alternative imaging tool in the evaluation of cancer patients and may become complementary to PET-CT in several clinical applications.