The investigation of association between IL-1Ra and ACE I/D polymorphisms in carpal tunnel syndrome.

BACKGROUND: Carpal tunnel syndrome (CTS) is a common neurologic impairment caused by injury on the median nerve in the wrist, characterized by pain and loss of sensory. CTS usually occurs through three factors, such as a mechanical pressure on median nerve, immunologic changes, and oxidative stress. The aim of this study was to evaluate the influence of interleukin-1 receptor antagonist (IL-1Ra) and angiotensin-converting enzyme (ACE) I/D polymorphisms on the susceptibility of patients to the CTS. METHODS: One hundred fifty-eight patients with CTS and 151 healthy controls were enrolled in this study. Each patient was analyzed according to diseases symptoms, such as gender, a positive Tinel's sign, a positive Phalen maneuver, disease sides, EMG findings, and clinical stage. We applied the polymerase chain reaction (PCR) to determine the polymorphisms of IL-1Ra and ACE I/D. RESULTS: The statistically significant relation was not found between IL-1Ra, ACE I/D polymorphisms and CTS (respectively, P>.05; P>.05, OR: 1.51, CI: 0.82-1.61). Additionally, in the result of the statistical analysis compared with gene polymorphisms and clinical characteristics, we did not find any correlation (P>.05). CONCLUSIONS: Our findings showed that there are no associations of IL-1Ra and ACE I/D polymorphisms with susceptibility of a person for the development of CTS. So, it means that these polymorphisms do not create a risk for the development of CTS. Further studies with larger populations will be required to confirm these findings in different study populations.

Agomelatine Protection in an LPS-Induced Psychosis-Relevant Behavior Model.

BACKGROUND The aim of this study was to investigate the effect of agomelatine in a psychosis-relevant behavior model. MATERIAL AND METHODS We used 18 adult male Wistar rats in this study. Twelve rats given LPS for endotoxemia were randomly divided into 2 groups (n=6). Group I was treated with 1 mL/kg 0.9% NaCl i.p. and Group II was treated with 40 mg/kg agomelatine. Six normal rats served as the control group and were not given LPS for endotoxemia. Cylindrical steel cages containing vertical and horizontal metal bars with top cover were used. Rats were put in these cages for the purpose of orientation for 10 min. Apomorphine was given to rats removed from cages, and then they were immediately put back in the cages for the purpose of observing stereotyped conduct. Brain HVA levels and plasma TNF-a levels were evaluated in tissue homogenates using ELISA. The proportion of malondialdehyde (MDA) was measured in samples taken from plasma for detection of lipid peroxidation similar to thiobarbituric acid reactive substances. RESULTS LPS induced-plasma TNF-α, brain TNF-α, and plasma MDA levels were significantly lower in the LPS+agomelatine group compared to the LPS+saline group (p<0.05). HVA levels and stereotype scores were significantly lower in the LPS+agomelatine group compared to the LPS+saline group (p <0.001). CONCLUSIONS Agomelatine reduced TNF-α, HVA, MDA levels, and the stereotype score in relevant models of psychosis. Our results suggest that the anti-inflammatory effect of agomelatine involved oxidant cleansing properties and that its effects on the metabolism of dopamine can play an important role in the model of psychosis.

Associations of rs4810485 and rs1883832 polymorphisms of CD40 gene with susceptibility and clinical findings of Behçet's disease.

There are evidences that besides geographic tendency, interactions between genetic and environmental factors play an essential role in the pathogenesis of Behçet's disease (BD). In this study, we have evaluated the associations between rs4810485 and rs1883832 single nucleotide polymorphism (SNP)s of CD40 gene with the susceptibility and clinical findings of BD. Two hundred and eighty-five patients with BD and 225 age-matched healthy controls were enrolled in this study. The clinical findings of patients were noted. The distributions of genotypes, alleles, combined genotypes and haplotypes of these two SNPs in BD patients were compared with those in healthy controls. In further evaluation, we evaluated the patients with and without any of clinical findings with regarding to distribution of genotypes and alleles of these two SNPs. There was no significant difference concerning frequencies of genotypes, alleles, combined genotypes and haplotypes of rs4810485 and rs1883832 between patients and controls (p > 0.05 for all). Frequency of GT genotype of CD40 rs4810485 polymorphism was found to be significantly higher in patients with skin lesions (p < 0.05, OR 1.65, 95 % CI 1.02-2.64). Also, we have found significantly higher frequencies of CC genotype and C allele of CD40 rs1883832 polymorphism in patients with genital ulcers (p < 0.05 for both, OR 2.30, 95 % CI 1.07-4.94 and OR 1.78, 95 % CI 1.06-2.97, respectively). However, these significances were disappeared after Bonferroni correction. We suggest that differences in the expression levels of CD40 because of different genotypes of these two SNPs may take part in the development of skin lesions or genital ulcers in patients with BD.

The role of IL-4 gene 70 bp VNTR and ACE gene I/D variants in Familial Mediterranean fever.

Familial Mediterranean fever (FMF) is characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. It is an autosomal recessive disease caused by mutations in the MEFV (MEditerranean FeVer) gene. Patients with similar genotypes exhibit phenotypic diversity. As a result, the variations in different genes could be responsible for the clinical findings of this disease. In previous studies genes encoding Angiotensin-Converting Enzyme (ACE) and IL-4 (Interleukin-4) were found to be associated with rheumatologic and autoimmune diseases. In the present study we hypothesized whether ACE I/D or IL-4 70 bp variable tandem repeats (VNTR) genes are associated with FMF and its clinical findings in Turkish patients. Genomic DNA obtained from 670 persons (339 patients with FMF and 331 healthy controls) was used in the study. Genotypes for an ACE gene I/D polymorphism and IL-4 gene 70 bp VNTR were determined by polymerase chain reaction with specific primers. To our knowledge, this is the first study examining ACE gene I/D polymorphism and IL-4 gene 70 bp VNTR polymorphism in FMF patients. As a result, there was a statistically significant difference between the groups with respect to genotype distribution (p<0.001). According to our results, ACE gene DD genotype was associated with an increased risk in FMF [p<0.001; OR (95%): 7.715 (4.503-13.22)]. When we examined ACE genotype frequencies according to the clinical characteristics, we found a statistically significant association between DD+ID genotype and fever (p=0.04). In addition IL-4 gene P1P1 genotype was associated with FMF (p<0.001). We propose that D allele or DD genotype of ACE gene and P1 allele or P1P1 genotype of IL-4 gene may be important molecular markers for susceptibility of FMF.

Clinical symptoms in fibromyalgia are associated to catechol-O-methyltransferase (COMT) gene Val158Met polymorphism.

1. Fibromyalgia syndrome (FMS) is a common chronic widespread pain syndrome mainly affecting women. The aim of this study was to explore the frequency and clinical significance of catechol-O-methyltransferase (COMT) gene Val158Met polymorphism in a large cohort of Turkish patients with FMS. 2. The study included 379 FMS patients and 290 controls. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analyses. 3. The genotype frequencies of Val158Met polymorphism showed a small difference between FMS patients and healthy controls (p = 0.047), however, the Met/Met genotype was significantly higher in FMS patients than healthy controls (p = 0.016). No difference was observed for allele frequencies between two groups. Stratification analysis according to clinical features for this disease reveals that weight, FMS Impact Questionnaire score, algometry and Raynaud's syndrome, were detected to have statistically significant associations with Val158Met polymorphism (p = 0.037, p = 0.042, p = 0.039 and p = 0.033, respectively). Pain sensitivity, measured by algometry, was statistically higher in patients with Met/Met genotype than the patients with Val/Val and Val/Met genotypes (p = 0.017). 4. The results of this study suggested that COMT gene Val158Met polymorphism is positively associated with FMS and play a relevant role in the clinical symptoms of the disease.

Decreased central corneal thickness in ankylosing spondylitis.

Central corneal thickness and dry eye tests were evaluated in a study population consisting of 68 ankylosing spondylitis patients diagnosed according to the modified New York criteria, and 61 age-matched controls without ankylosing spondylitis. A full ophthalmological evaluation was performed on each subject. All subjects were screened for age, gender, HLA-B27, tear break-up time test, Schirmer test, and duration of disease. Central corneal thickness was measured under topical anesthesia with an ultrasonic pachymeter. The mean central corneal thickness was 537.3 ± 30.6 µm, range 462-600 µm, in ankylosing spondylitis patients, whereas it was 551.7 ± 25.2 µm, range 510-620 µm, in controls (p = 0.005). The Schirmer test result was 7.3 ± 5.9 mm for the ankylosing spondylitis patients and 11.7 ± 5.8 mm for the control group (p = 0.002). Tear break-up time was 7.3 ± 3.2 s for the ankylosing spondylitis patients and 14.0 ± 4.5 s for the control group (p < 0.001). The possibility of a thinner cornea should be taken into consideration in ankylosing spondylitis. In addition, attention must be given to lower dry eye tests in surgical interventions such as photorefractive keratectomy and laser in situ keratomileusis in ankylosing spondylitis patients.

Pulmonary involvement in ankylosing spondylitis assessed by multidetector computed tomography.

BACKGROUND: Ankylosing spondylitis (AS) may present with extra-articular involvement in the lungs. We aimed to evaluate the abnormal pulmonary multidetector computed tomography findings of patients with AS and compare them with the clinical symptoms, duration of illness, laboratory results and pulmonary function tests (PFT). MATERIAL/METHODS: We evaluated the chest multidetector computed tomography (MDCT) findings of 41 patients with ankylosing spondylitis (AS) and compared them with pulmonary function test (PFT) results, demographic characteristics, duration of illness and laboratory findings that we were able to obtain. RESULTS: The most common abnormalities were nodules, peribronchial thickening, pleural thickening and bronchiectasis. Abnormalities occurred in 96.87% of patients in the early AS group and 77.8% of patients in the late AS group. Patients with early AS included asymptomatic individuals with normal PFT results and abnormal MDCT findings. CONCLUSIONS: The use of MDCT in AS patients may be beneficial for the evaluation of pulmonary disease, even in asymptomatic patients without any PFT abnormalities and those in the early stages of the disease.

Association of MTHFR gene C677T mutation with diabetic peripheral neuropathy and diabetic retinopathy.

PURPOSE: Diabetic peripheral neuropathy (DPN) is one of the most common diabetic chronic complications. Methylenetetrahydrofolate reductase (MTHFR) gene variants have been associated with vasculopathy that has been linked to diabetic neuropathy. The aim of the present study was to investigate the possible association between MTHFR gene C677T mutation and DPN and evaluate if there is an association with clinical features in a relatively large cohort of Turkish patients. METHODS: The study included 230 patients affected by DPN and 282 healthy controls. Genomic DNA was isolated and genotyped using the polymerase chain reaction-based restriction fragment length polymorphism assay for the MTHFR gene C677T mutation. RESULTS: The genotype and allele frequencies of the C677T mutation showed statistically significant differences between the patients with DPN and the controls (p=0.003 and p=0.002, respectively). After the patients with DPN were stratified according to clinical and demographic characteristics, a significant association was observed between the C677T mutation and history of retinopathy (p=0.039). CONCLUSIONS: A high association between the MTHFR gene C677T mutation and DPN was observed in the present study. In addition, history of retinopathy was associated with the MTHFR C677T mutation in patients with DPN.

Association of IL-4 gene VNTR variant with deep venous thrombosis in Behçet's disease and its effect on ocular involvement.

PURPOSE: Behçet's disease (BD) is a systemic vasculitis characterized by inflammatory lesions of the urogenital mucosa, eyes, skin, central nervous system, and joints. Vein thrombosis constitutes the most frequent vascular manifestation of the disease, and may cause such ocular vascular thrombotic events as central retinal vein and central retinal artery thrombosis. Thrombosis is a serious problem, and often leads to irreversible vision loss. Previous studies have shown that genetic factors predispose individuals to BD. Several cytokine genes might play crucial roles in host susceptibility to BD and to thrombophilia. Various polymorphic regions of the interleukin-4 (IL-4) gene (-1098G and 590T) are associated with BD in the Turkish population. This study was conducted in Turkish patients with BD to determine the frequency of the IL-4 gene 70 bp variable number of tandem repeats (VNTR) variant, and its association with clinical findings. METHODS: Genomic DNA obtained from 488 individuals (238 patients with Behçet's disease and 250 healthy controls) was used in the study. Genomic DNA was isolated and genotyped using PCR assay for the IL-4 gene 70 bp VNTR polymorphism determined by using PCR with the specific primers. RESULTS: There was statistical significance between the groups regarding IL-4 genotype distribution (p<0.001, odds ratio: 2.55 [1.629-4.052], 95% confidence interval) and allele frequencies (p<0.0012.381[1.586-3.617], 95% confidence interval). When we examined IL-4 genotype frequencies according to the clinical characteristics, we observed a statistically significant association between the P2P2 genotype and deep venous thrombosis (p=0.01). Deep venous thrombosis was also associated with ocular involvement in our study group (p=0.014). CONCLUSIONS: Our findings suggest that the IL-4 gene 70 bp VNTR polymorphism is associated with susceptibility to development of BD. Deep venous thrombosis is also associated with ocular involvement in BD. The IL-4 gene could be a genetic biomarker in Behçet's disease in a Turkish study population.

DD genotype of ACE gene I/D polymorphism is associated with Behcet disease in a Turkish population.

Behcet's disease (BD) is a chronic, multi-systemic and inflammatory disorder. The local renin-angiotensin system (RAS) in the vessel wall plays a role in the endothelial control and contributes to inflammatory processes. Angiotensin-converting enzyme (ACE) is the regulatory component of the RAS. This study was conducted in Turkish patients with BD to determine the frequency of I/D polymorphism genotypes of ACE gene. Genomic DNA obtained from 566 persons (266 patients with BD and 300 healthy controls). ACE gene I/D polymorphism genotypes were determined using polymerase chain reaction using I and D allele-specific primers. There was statistically significant difference between the groups with respect to genotype distribution (p < 0.001). This study is the largest study in Turkish population that ACE gene I/D polymorphism investigated in BD. As a result of this study, ACE gene I/D polymorphism DD genotype could be a genetic marker in BD in Turkish study population.

Spatial modelling of rheumatoid arthritis in Turkey by geographic information systems (GIS).

We described the recent spatial distribution of rheumatoid arthritis in Turkey and assessed the role of environmental variables in this distribution. We developed an observed rheumatoid arthritis (RA) incidence grid map by using georeferenced rheumatoid arthritis case data (2011) from the centres of 81 provinces and the kriging method with a spherical variogram model in geographic information systems (GIS). We also modelled rheumatoid arthritis incidence in GIS by using complementary spatial database including the grid map layers of 14 environmental variables of Turkey. We conducted principle component analysis and multiple regression to investigate the relationships among variables and develop a model, respectively. The produced model was run in GIS to obtain a predicted (model) RA map. We tested the reliability of the model map by residual statistics and found the model map dependable. Observed and model incidence maps revealed the geographic distribution of rheumatoid arthritis cases in Turkey. The mean temperature, minimum temperature, maximum temperature, water vapour pressure, elevation, potential evapotranspiration, latitude, distance to seas, sunshine fraction, precipitation, longitude and aspect variables were found to have significant impacts on rheumatoid arthritis. Consequently, the model incidence map established a good background to predict rheumatoid arthritis cases following environmental changes.

Sleep quality in patients with systemic sclerosis: relationship between the clinical variables, depressive symptoms, functional status, and the quality of life.

The aim of this study is to evaluate the relationship between the sleep quality and the disease-related variables, functional status, quality of life, and depressive symptoms in patients with systemic sclerosis (SSc). Forty-eight patients diagnosed with SSc and 42 healthy control subjects were enrolled in the study. The demographic and clinical characteristics of the patients such as the Raynaud's phenomenon, SSc subtype, digital ulcers, gastrointestinal and lung involvement, and disease activity were recorded. All patients were assessed using the short form 36 (SF-36) quality of life scale, the health assessment questionnaire and the beck depression inventory. Generalized pain and fatigue were assessed with the Visual Analoge Scale. For the evaluation of the sleep disturbance, the SSc and control groups were assessed with the help of the Pittsburgh Sleep Quality Index (PSQI). The patients with SSc had significantly higher scores in the subjective sleep quality, sleep latency, habitual sleep efficiency, sleep disturbance, daytime dysfunction domains, and in terms of the total PSQI score compared to the healthy control group (p < 0.05). According to the results of spearman's analysis, there was a significantly higher correlation between the generalised pain, fatigue, depressive symptoms, functional status, and physical score of the SF-36 and the sleep disturbance (p < 0.01). There was also a significantly lower correlation between the menopause status, dyspnoea, gastroesophageal reflux, dysphagia, the mental score of the SF-36, and the sleep disturbance (p < 0.05). The sleep quality is disturbed in patients with SSc. The lower quality of sleep is especially associated with the pain, fatigue, depressive symptoms, and functional status.

Sexuality of men with fibromyalgia: what are the factors that cause sexual dysfunction?

The purpose of the present study is to compare male patients with the fibromyalgia syndrome (FMS) with healthy individuals in terms of the sexual function. For the purposes of this study, 37 sexually active male FMS patients and 30 healthy controls were enrolled. The demographic data of the patients were recorded, and the widespread pain observed in FMS was graded with the help of the visual analogue scale (VAS 0-100 mm). Sexual function was assessed according to the international index of erectile function (IIEF) scoring system. The disease-related quality of life was measured with the help of the Short Form-36 quality of life questionnaire (SF-36 QoL). Levels of anxiety and depression observed in the patients were graded through the Hospital Anxiety and Depression Scale (HADS). Patients with FMS had significantly lower scores in each of the five domains of the IIEF in comparison with the healthy control group (p < 0.001). Patients' age and widespread pain were negatively correlated with the IIEF scores (p < 0.05). The SF-36 scores (physical functioning, role limitations due to physical problems, pain and general health perception) were observed to be positively correlated with the IIEF scores (p < 0.05). No significant relationship has been observed between the scores obtained from the domains of IIEF and the psychological status (p > 0.05). FMS leads to an impairment in the sexual function in male patients, which is especially strongly associated with the age, widespread pain and the quality of life.

Relationship of the sexual functions with the clinical parameters, radiological scores and the quality of life in male patients with ankylosing spondylitis.

The aim of this study was to explore the impact of ankylosing spondylitis (AS) and the disease-related variables on the patients' sexual function according to the International Index of Erectile Function (IIEF) scoring system. A total of 70 sexually active male AS patients and 60 healthy controls were enrolled in this study. Their demographic data were evaluated, and the pain was assessed according to the visual analogue scale (VAS). Laboratory tests were conducted in order to measure the C-reactive protein (CRP) and erythrocyte sedimentation rates (ESR) of the patients. The disease activity was evaluated using the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI). Functional statement was evaluated with the help of the Bath Ankylosing Spondylitis Functional Index (BASFI) and with the scores obtained from the spinal measurements with the Bath Ankylosing Spondylitis Metrology Index (BASMI). The Bath Ankylosing Spondylitis Radiology Index (BASRI) was used to evaluate the radiological damage. The disease-related quality of life was measured with the Ankylosing Spondylitis Quality of Life Questionnaire (ASQoL). The anxiety and depression level of the patients was revealed through the Hospital Anxiety and Depression Scale (HADS). In comparison with the healthy control group, patients with AS had significantly lower scores in each of the 5 domains of the IIEF (p < 0.0001). The BASDAI, BASFI, BASMI, BASRI, ASQoL, HADS scores and CRP levels were negatively correlated with IIEF (p < 0.05). Orgasmic function and sexual desire scores were significantly lower in patients with peripheral arthritis (p < 0.05). No significant correlation was observed with the disease duration, smoking status, pain (VAS), and ESR levels when the total scores and the scores from the domains of IIEF were compared. The multivariate regression analyses indicated that BASFI and BASMI were independently associated with the sexual function. The sexual function is impaired in male patients with AS. This impairment in the sexual function is especially correlated with the BASFI and BASMI among the clinical and laboratory parameters.

Pulmonary involvement in rheumatoid arthritis: multidetector computed tomography findings.

BACKGROUND: Pulmonary involvement in rheumatoid arthritis (RA) is common and encompasses a large spectrum of disease with different treatment options and prognoses. Therefore, assessment of these patients with multidetector computed tomography (MDCT) is vital. PURPOSE: To evaluate the MDCT pulmonary findings of patients with RA and to compare these findings with the clinical status. MATERIAL AND METHODS: Chest MDCT scans of 85 patients with RA between 2006-2012 were assessed. One patient with a pulmonary infection was excluded from the study. MDCT findings and distribution of the CT findings were examined, and patients were classified according to the predominant CT pattern. The pulmonary function test (PFT) results and categories, demographic characteristics, and clinical status of some of the patients for whom the results were obtained were evaluated, and the CT findings, PFT results, demographic characteristics, and clinical status were compared. RESULTS: The study group consisted of 20 men (mean age, 58.1 years ± 13.1; range, 15-77 years) and 64 women (mean age, 55.3 years ± 11.5; range, 30-84 years). The most frequent findings were nodules (78.6%) and pleural thickening (48.8%). The most common CT patterns were follicular bronchiolitis (FB) in 28 (33.3%) patients and nodular disease (ND) in 12 (14.3%) others. There was no statistically significant difference between the CT findings and PFT results, and no statistically significant difference was noted in the CT findings between symptomatic and asymptomatic patients. In addition, there were some patients who exhibited no symptoms and/or had abnormal PFT results but had abnormal CT findings. CONCLUSION: Rheumatoid arthritis is associated with a high frequency of CT findings and CT patterns, with nodules and pleural thickening being the most common CT findings and FB and ND being the most common CT patterns. MDCT identification of patients with RA may be helpful in the evaluation of pulmonary disease, even in patients without symptoms and PFT abnormalities.

Effect of IL-6 -174G/C and -572G/C variants on susceptibility to osteoarthritis in Turkish population.

Osteoarthritis (OA) is a complex disorder characterized by degenerative articular cartilage in which inflammatory mechanisms play a major role in the pathogenesis. Interleukin-6 (IL6), a multifunctional cytokine, can trigger osteoclast differentiation and bone resorption. Our purpose in this study was to evaluate the association of IL-6 -174 G/C (rs1800795) and -572 G/C (rs1800796) variants with the susceptibility to OA. One hundred fifty OA patients and 150 healthy individuals were enrolled in the study. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used for genotyping the IL-6 gene variants. The results of analyses were evaluated for statistical significance. The pain intensity was assessed using the Visual Analogue Scale (VAS). There was a statistically significant difference in the genotype and allele frequencies of the IL-6 -174 G/C variant between patients with OA and control groups (p = 0.001, p = 0.002, respectively). IL-6 -174 G/C GG genotype and G allele were more prevalent in patients with OA. We found that the IL-6 -572 G/C variant was not different between patients and controls in either genotype distribution and allele frequency. IL-6 174 G/C and -572 G/C loci GG-GG combined genotype was significantly higher in OA patients (p = 0.00). Our study suggests that there was a strong association between the IL-6 -174 G/C variant and OA in the Turkish population. Further studies on populations of different ethnic background are necessary to prove the association of IL-6 variants with OA.

Significant association between insertion/deletion polymorphism of the angiotensin-convertig enzyme gene and ankylosing spondylitis.

PURPOSE: Ankylosing spondylitis (AS) is a chronic inflammatory rheumatic disease that characteristically affects the sacroiliac joints and the spine. Also iritis and uveitis can be serious complications of AS that can damage the eye and impair vision. The exact pathogenesis of AS remains poorly understood but genetic factors play a key role in its development. Human leukocyte antigen B27 (HLA-B27) is the major genetic susceptibility marker in AS. To our knowledge, angiotensin converting enzyme (ACE) gene I/D polymorphisms have not yet been investigated in AS patients in Turkish population.This study was conducted in Turkish patients with AS to determine the frequency of I/D polymorphism genotypes of angiotensin converting enzyme gene. METHODS: Genomic DNA obtained from 262 persons (122 patients with ankylosing spondylitis and 140 healthy controls) was used in the study. ACE I/D polymorphism genotypes were determined by using polymerase chain reaction with specific primers. RESULTS: There was statistically significant difference between the groups with respect to genotype distribution (p<0.001). When we examine ACE genotype frequencies according to the clinical characteristics there was a statistically significant association between DD genotype and ocular involvement (p=0.04) also sacroiliac joint involvement (p=0.03). CONCLUSIONS: As a result of our study, angiotensin converting enzyme gene I/D polymorphism DD genotype could be a genetic marker in ankylosing spondylitis in a Turkish study population.

Association between the methylene tetrahydrofolate reductase gene C677T mutation and colchicine unresponsiveness in Behcet's disease.

PURPOSE: Behcet's disease (BD) is a multisystemic immunoinflammatory disorder characterized by mucocutaneous, ocular, vascular, and central nervous system manifestations. The common methylene tetrahydrofolate reductase (MTHFR) gene C677T mutation is a known risk factor for thrombosis. The aim of this study was to investigate the MTHFR gene C677 mutation in patients with BD and evaluate if there was an association with clinical features, especially thrombosis, in a relatively large cohort of patients with BD. METHODS: The study included 318 patients with BD and 207 healthy controls. Genomic DNA was isolated and genotyped using PCR-based restriction fragment length polymorphism assay for the MTHFR gene C677T mutation. RESULTS: The genotype and allele frequencies of the C677T mutation showed a statistically significant difference between BD patients and controls (p=0.003 and p=0.001, respectively). There was also a significant association between C677T alteration and response to colchicine in BD patients (p=0.046). CONCLUSIONS: The results of this study showed that there was a high association between the MTHFR gene C677T mutation and BD. Stratification analysis according to clinical features for this disease did not reveal an association except response to colchicine that was shown to be influenced by the MTHFR C677T mutation.

Behcet's disease impairs voice quality without laryngeal and hypopharyngeal involvement.

The objective of the study was to investigate voice evaluation parameters in Behcet's disease patients. A prospective controlled study was performed in a tertiary referral center. A total of 31 patients (21 female, 10 male) with a diagnosis of Behcet's disease had voice evaluations by means of laryngostroboscopy, acoustic analysis, aerodynamic measurements and perceptual assessment. Data obtained from the patients were compared to 31 healthy control subjects. Laryngeal endoscopy was within normal limits in all patients. The mean fundamental frequency in male control subjects (134 ± 14 Hz) was significantly higher than in male patients (124 ± 20 Hz), (p = 0.043). Mean intensity was significantly higher in control subjects (74 ± 5 dB) than in the patients (63 ± 4.6 dB), (p < 0.001). Shimmer in patients (3.4 ± 2.5) was significantly higher than in control subjects (2 ± 1.3), (p = 0.01). Maximum phonation time in control subjects (25 ± 5.8 s) was significantly longer than in patients (20 ± 7.9 s), (p = 0.007), and s/z ratio was found to be nearly equal between patients (0.9 ± 0.2) and control subjects (0.96 ± 0.1), (p > 0.05). The patients showed a mean GRBAS score of 1.8 ± 1.9 and the control group showed a mean score of 0.48 ± 1.06, (p = 0.002). The VHI-10 scale revealed a mean score of 2.2 ± 4.8 in BD patients and 2 ± 2 in control subjects (p > 0.05). Behcet's disease impaired voice quality without laryngostroboscopically visible laryngeal and hypopharyngeal involvement. This impairment was documented by objective voice evaluation methods including acoustic analysis and aerodynamic voice measurements and by subjective voice evaluation method including perceptual assessment.

Frequency of fragmented QRS on ECG is increased in patients with rheumatoid arthritis without cardiovascular disease: a pilot study.

Myocardial fibrosis causes the fragmentation of QRS complexes (fQRS) on ECGs. We hypothesized that the frequency of fQRS could be more common in patients with rheumatoid arthritis (RA) than in control subjects. A total of 56 patients with RA were compared with 35 age- and gender-matched fibromyalgia subjects for fQRS. The fQRS was defined as the presence of an additional R wave, or notching of the R or S wave, or the presence of fragmentation in 2 contiguous leads corresponding to the territory of a major coronary artery. Patients with bundle block on ECG and cardiovascular disease were excluded. Twenty-one patients (37.5%) in the RA group had fQRS, while two patients in the control group (5.7%) had fQRS (p = 0.001). No differences were found between the groups in terms of age, gender, or drug use. Duration of disease--years (interquartile range [IQR])--was 10 (8) in the fQRS (+) group, while it was 5 (2) in the fQRS (-) group (p < 0.001). Multivariate logistic regression analysis revealed that duration of disease was associated with the presence of fQRS (B = 1.5, odds ratio = 4.5, p = 0.004, 95% confidence interval = 1.6-12.7). We found that fQRS on ECG was more common in patients with RA without cardiovascular disease than in age- and gender-matched control subjects.