Is mean platelet volume related to disease activity in systemic lupus erythematosus?

INTRODUCTION: Systemic lupus erythematosus (SLE) is a connective tissue disease that is chronic, recurrent and multisystem with unknown aetiology. There is still no single biomarker that is pathognomonic for the disease. We know that platelets are the main part of haemostasis and thrombosis. We aimed to investigate whether there is a connection between MPV with SLE and inflammatory markers. MATERIAL AND METHODS: We have included 39 female patients with SLE and 45 controls in this study. In both groups, erythrocyte sedimentation rate (ESR), serum C-reactive protein (CRP) levels and MPV levels were investigated. Clinical findings and Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) were evaluated in patients. RESULTS: There was no significant difference between the two groups in terms of demographic data. The MPV was 8.1 ± 0.5 (mean ± SD) in the patient's group and 7.6 ± 0.3 in the control group. There was a significant difference between the two groups in terms of MPV (P < .001). The ESR level was 30.7 ± 29 in the patient's group and 16.7 ± 10 in the control group. In the patient's group, the CRP levels were higher compared with that of the control group (8.2 ± 13, 4.5 ± 4, respectively). We found a statistically significant positive correlation between MPV with arthritis (r = .310,P = .004), nephritis (r = .446,P < .001), central nervous system involvement (r = .241,P = .027), vasculitis (r = .228,P = .037) and SLEDAI (r = .329,P = .002). In our study, we found increased levels of MPV in patients with SLE. Also, we observed a positive correlation among MPV with sedimentation, CRP, clinical manifestations and SLEDAI. CONCLUSION: We consider that MPV may be a new activation indicator for the SLE.

Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study.

Takayasu arteritis is a rare inflammatory disease of large arteries. We performed a genetic study in Takayasu arteritis comprising 6,670 individuals (1,226 affected individuals) from five different populations. We discovered HLA risk factors and four non-HLA susceptibility loci in VPS8, SVEP1, CFL2, and chr13q21 and reinforced IL12B, PTK2B, and chr21q22 as robust susceptibility loci shared across ancestries. Functional analysis proposed plausible underlying disease mechanisms and pinpointed ETS2 as a potential causal gene for chr21q22 association. We also identified >60 candidate loci with suggestive association (p < 5 × 10-5) and devised a genetic risk score for Takayasu arteritis. Takayasu arteritis was compared to hundreds of other traits, revealing the closest genetic relatedness to inflammatory bowel disease. Epigenetic patterns within risk loci suggest roles for monocytes and B cells in Takayasu arteritis. This work enhances understanding of the genetic basis and pathophysiology of Takayasu arteritis and provides clues for potential new therapeutic targets.

Vitamin D status, serum lipid concentrations, and vitamin D receptor (VDR) gene polymorphisms in Familial Mediterranean fever.

Vitamin D (VitD) is critical for the regulation of inflammatory processes, and VitD deficiency has been linked to several chronic inflammatory disorders. We aimed to investigate the concentrations of serum 25(OH)D3, lipid parameters, and three known VDR polymorphisms (BsmI, FokI, and TaqI) in patients with Familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disease. The study included 123 FMF patients and 105 controls. Seventy patients had no attack (group 1), 30 had 1-2 attacks (group 2), and 23 had 3 or more attacks (group 3) within last three months. Serum 25(OH)D3 concentrations were determined using liquid chromatography-tandem mass spectrometry. BsmI, FokI, and TaqI polymorphisms were analyzed by a competitive allele specific polymerase chain reaction assay (KASPar). Serum lipid parameters were measured with enzymatic colorimetric methods. 25(OH)D3 concentrations were lower in FMF patients compared to controls (p < 0.001). No difference was observed in 25(OH)D3 concentration between groups 1, 2, and 3. The distributions of FokI and TaqI genotypes were not significantly different between FMF patients and controls. There was a significant difference in the distribution of AA BsmI genotype between male FMF patients and male controls. Increased concentrations of triglycerides (p = 0.012) and decreased concentrations of high-density lipoprotein cholesterol [HDL-C] (p = 0.006) were found in FMF patients compared to controls. Although lower 25(OH)D3 concentrations were observed in FMF patients versus controls, no association was determined between FMF attack frequency and 25(OH)D3 concentrations. We showed that the AA genotype of BsmI polymorphism is associated with FMF in males but not in females. The effects of decreased HDL-C and increased triglyceride concentrations on cardiovascular events in FMF patients should be further investigated.

Rectal Adenocarcinoma As An Uncommon Cause of Immunoglobulin A Vasculitis (Henoch-Schönlein Purpura).

Immunoglobulin A vasculitis (Henoch-Schönlein purpura) is an immunoglobulin A-mediated vasculitis of unknown cause, which is characterized by non-thrombocytopenic purpura, arthralgia, abdominal pain, and glomerulonephritis. It most commonly occurs in children, and usually follows a benign course. It can also affect adults and is probably related to malignancy. In this article, we report a case of rectal adenocarcinoma in an immunoglobulin A vasculitis with renal involvement.

Decreased Chitotriosidase Activity and Levels in Familial Mediterranean Fever.

Different studies have demonstrated changes in chitotriosidase (ChT) activity and concentrations in multiple diseases. However, changes in ChT activity and concentrations have not been concurrently evaluated in patients with Familial Mediterranean Fever (FMF). In this study, we analyzed the changes in serum ChT activity and concentrations in patients with FMF. The study included a total of 80 patients with FMF and 80 healthy controls. ChT enzyme activity and concentrations were measured and then compared between the groups. ChT activity was measured by using fluorometric ELISA and ChT concentrations were measured by using colorimetric ELISA methods. The median ChT activity was 10.00 (6.00-15.00) nmol/mL/hr in the patients and 14.00 (6.25-20.75) nmol/mL/hr in the controls. There was a statistically significant difference in the ChT activity between the controls and patients (P = 0.027). The median ChT concentrations were 65.40 (46.20-84.92) pg/mL and 125.00 (75.72-143.95) pg/mL in the patients and controls, respectively (P < 0.001), which were expressed as median percentiles (25th-75th). Additionally, we found no correlation between C-reactive protein and ChT activity (P = 0.978, r = 0.003) and concentrations (P = 0.446, r = -0.87). Serum ChT enzyme activity and concentrations may not be considered as a biomarker in FMF patients taking colchicine. New studies are needed to evaluate the changes of enzyme activity and concentration in colchicine-negative patients.

Direct and indirect healthcare costs of rheumatoid arthritis patients in Turkey.

OBJECTIVES: To estimate the annual cost of rheumatoid arthritis (RA) in Turkey by obtaining real-world data directly from patients. METHODS: In this cross-sectional study, RA patients from the rheumatology outpatient clinics of 10 university hospitals were interviewed with a standardised questionnaire on RA-related healthcare care costs. RESULTS: The study included 689 RA patients (565 females) with a mean age of 51.2±13.2 years and mean disease duration of 9.4±7.8 years. The mean scores of the Routine Assessment of Patient Index Data 3 and the Health Assessment Questionnaire-Disability Index (5.08±2.34 and 1.08±0.68, respectively) indicated moderate disease activity and severity for the whole group. One-third of the patients were on biologic agents and 12% had co-morbid conditions. The mean number of annual outpatient visits was 11.7±9.6 per patient. Of the patients, 15% required hospitalisation and 4% underwent surgery. The mean annual direct cost was € 4,954 (median, € 1,805), whereas the mean annual indirect cost was € 2,802 (median, € 608). Pharmacy costs accounted for the highest expenditure (mean, € 2,777; median, € 791), followed by the RA-related consultations and expenses (mean, € 1,600; median, € 696). CONCLUSIONS: RA has a substantial economic burden in Turkey, direct costs being higher than indirect costs. Although both direct and indirect costs are lower in Turkey than in Europe with respect to nominal Euro terms, they are higher from the perspectives of purchasing power parity and gross domestic product. Early diagnosis and treatment of RA may positively affect the national economy considering the positive correlation between health care utilisations and increased cost with disease severity.

The association between the parenchymal neurological involvement and posterior uveitis in Behçet's syndrome.

OBJECTIVES: Behçet's syndrome (BS) is a systemic vasculitis, which may involve multiple organ systems simultaneously. Clinical findings in BS often fit into well-recognized patterns, such as the association between papulo-pustular skin lesions and arthritis. We have recently observed a distinct pattern, in which a subtype of neuro-Behçet's syndrome (NBS) is often preceded by specific ophthalmic manifestations of the disease process. The purpose of this study is to evaluate the association between the parenchymal subtype of NBS and posterior uveitis (PU). METHODS: We have retrospectively reviewed the clinical records of 295 patients with BS, who met the international classification criteria for BS, diagnosed at two major rheumatology clinics from 2010 to 2014. Patient demographics, ophthalmic examinations, clinical and radiologic patterns of neurological involvement were recorded. Manifestations of BS were classified as PU, NBS, vascular involvement, and arthritis. The association between clinical findings was analysed for statistical significance. RESULTS: Of the 295 patients, 100 had PU and 44 had NBS. 30 patients had parenchymal NBS and 14 had vascular NBS. Patients with PU were significantly more likely to have neurological involvement compared to those without PU (p<0.001; Odds Ratio: 3.924; 95% CI: 1.786-8.621). Rate of posterior uveitis was higher in patients with parenchymal NBS when compared to patients with vascular NBS, vascular BS or arthritis (63.3%, 21.4%, 22% and 4.2% respectively, p<0.001). CONCLUSIONS: Our findings suggest a clinically and statistically significant association between posterior uveitis and parenchymal type of neurologic involvement in BS. The development of posterior uveitis in a patient with previously diagnosed BS should be recognized as a "warning sign" for predisposition to neurologic involvement. These patients should be informed about the possible signs and symptoms of neurological involvement, which can cause very rapid and irreversible damage unless recognized and treated immediately.

Is mean platelet volume a new activity criteria in Behçet's disease?

The aim of this study was to assess mean platelet volume (MPV) and its relationship with disease activity in patients with Behçet's disease. Thirty-six patients with an age of 38.9 ± 11 (mean ± SD) years and 40 controls aged 36.5 ± 12 (mean ± SD) years were enrolled the study. Demographic data, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), MPV, clinical findings such as oral aphthae, genital aphthae, erythema nodosum, acne, central nervous system involvement, uveitis, arthritis and arthralgia were all recorded. The MPV value in patients with Behçet's disease was 8.06 ± 1.0 (mean ± SD) and the MPV value of the control participants was 7.45 ± 0.6 (mean ± SD). MPV was statistically higher in patients with Behçet's disease than in the controls (P = 0.003). There were also significant differences between patients and controls according to ESR and CRP values (P < 0.001 and P = 0.001, respectively). MPV was positively correlated with arthralgia (P < 0.001, r = 0.438), arthritis (P = 0.008, r = 0.307), erythema nodosum (P = 0.002, r =  0.354), central nervous system involvement (P = 0.002, r = 0.357), acne (P = 0.008, r = 0.312), genital aphthae (P < 0.001, r = 0.401) and oral aphthae (P = 0.001 r = 0.377). MPV can be easily obtained from the patients. It was a cheap and practical method. In the future, MPV may be used as a new marker to detect the activation of BD.

Behçet disease with vascular involvement: effects of different therapeutic regimens on the incidence of new relapses.

Vascular involvement is one of the major causes of mortality and morbidity in Behçet disease (BD). There are no controlled studies for the management of vascular BD (VBD), and according to the EULAR recommendations, only immunosuppressive (IS) agents are recommended. In this study, we aimed to investigate the therapeutic approaches chosen by Turkish physicians during the initial event and relapses of VBD and the association of different treatment options with the relapses retrospectively.Patients with BD (n = 936, female/male: 347/589, mean age: 37.6 ±â€Š10.8) classified according to ISG criteria from 15 rheumatology centers in Turkey were included. The demographic data, clinical characteristics of the first vascular event and relapses, treatment protocols, and data about complications were acquired.VBD was observed in 27.7% (n = 260) of the patients during follow-up. In 57.3% of the VBD patients, vascular involvement was the presenting sign of the disease. After the first vascular event, ISs were given to 88.8% and AC treatment to 59.8% of the patients. Median duration of AC treatment was 13 months (1-204) and ISs, 22 months (1-204). Minor hemorrhage related to AC treatment was observed in 7 (4.7%) patients. A second vascular event developed in 32.9% (n = 86) of the patients. The vascular relapse rate was similar between patients taking only ISs and AC plus IS treatments after the first vascular event (29.1% vs 22.4%, P = 0.28) and was significantly higher in group taking only ACs than taking only ISs (91.6% vs 29.1%, P < 0.001). During follow-up, a third vascular event developed in 17 (n = 6.5%) patients. The relapse rate was also similar between the patients taking only ISs and AC plus IS treatments after second vascular event (25.3% vs 20.8%, P = 0.93). When multivariate analysis was performed, development of vascular relapse negatively correlated with only IS treatments.We did not find any additional positive effect of AC treatment used in combination with ISs in the course of vascular involvement in patients with BD. Severe complications related to AC treatment were also not detected. Our results suggest that short duration of IS treatments and compliance issues of treatment are the major problems in VBD associated with vascular relapses during follow-up.

Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study.

OBJECTIVE: Takayasu arteritis is a rare large vessel vasculitis with incompletely understood etiology. This study was undertaken to perform the first unbiased genome-wide association analysis of Takayasu arteritis. METHODS: Two independent cohorts of patients with Takayasu arteritis from Turkey and North America were included in our study. The Turkish cohort consisted of 559 patients and 489 controls, and the North American cohort consisted of 134 patients and 1,047 controls of European ancestry. Genotyping was performed using the Omni1-Quad and Omni2.5 genotyping arrays. Genotyping data were subjected to rigorous quality control measures and subsequently analyzed to discover genetic susceptibility loci for Takayasu arteritis. RESULTS: We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)). The genetic susceptibility locus in RPS9/LILRB3 lies within the leukocyte receptor complex gene cluster on chromosome 19q13.4, and the disease risk variant in this locus correlates with reduced expression of multiple genes including the inhibitory leukocyte immunoglobulin-like receptor gene LILRB3 (P = 2.29 × 10(-8)). In addition, we identified candidate susceptibility genes with suggestive levels of association (P < 1 × 10(-5)) with Takayasu arteritis, including PCSK5, LILRA3, PPM1G/NRBP1, and PTK2B. CONCLUSION: Our findings indicate novel genetic susceptibility loci for Takayasu arteritis and uncover potentially important aspects of the pathophysiology of this form of vasculitis.

Retro-orbital granuloma associated with granulomatosis with polyangiitis: a series of nine cases.

Retro-orbital granuloma is a rare and devastating component of granulomatosis with polyangiitis (GPA). Current medical treatment protocols are falling short, and outcomes are poor. The aim of the study was to investigate the frequency, clinical features, and treatment outcomes of retro-orbital granuloma in patients with GPA. This is a retrospective, multi-centre study, which involves GPA cohorts from five different clinics. Data were extracted from patient charts including history, physical examination, radiological-laboratory-histological findings, and treatment protocols. Major clinical outcome measures were changes in the volume of the granuloma on comparative MRI, and visual acuity on repeated ophthalmologic examinations. Among 141 GPA patients, nine (five females and four males) were diagnosed with a retro-orbital granuloma. Median duration of disease was 8 years. Proptosis and diplopia were the dominant presenting symptoms (77%), followed by orbital pain (55%). Three out of nine patients had isolated retro-orbital granulomas, without other organ involvement of GPA. Five patients received conventional pulse steroid and pulse cyclophosphamide (CYC) as the first-line remission induction therapy. Four of these patients had progressive disease, and a regression in granuloma size was observed in one patient using this regimen. Two patients were already receiving immunosuppressants when they were diagnosed with retro-orbital granuloma. Six patients had been treated with RTX as the second-line remission induction therapy. None of these patients had progression following RTX therapy. Three patients underwent orbital decompression surgery. The indication for the decision for surgery was either progressive loss of vision or intractable pain. Standard first-line chemotherapy (CYC and steroids) was ineffective against retro-orbital granuloma associated with GPA. RTX could be an alternative in these cases. Surgical intervention may help to decrease the morbidity. Further prospective studies with greater patient numbers are needed to test the clinical efficiency of RTX as a first-line remission induction chemotherapy.

Evaluation of aortic elastic properties in patients with systemic sclerosis.

OBJECTIVES: The aim of this study was to investigate the elastic properties of the aorta, which are known to be predictors of cardiovascular morbidity and mortality in patients with systemic sclerosis (SSc). STUDY DESIGN: Forty patients (2 males, 38 females) with SSc who had been referred to echocardiography without any exclusion criteria were enrolled in the study. The control group consisted of 38 subjects (4 males, 34 females) who were examined in the cardiology out-patient clinic and referred to echocardiography for any indication in the same period. Parameters related to diastolic functions of the left ventricle were obtained by echocardiography and the following parameters of aortic elasticity were calculated according to these formulas: aortic strain = ([AOS - AOD]/AOD), aortic stiffness index (ß) = ln (systolic blood pressure/diastolic blood pressure)/aortic strain and aortic distensibility = 2 × aortic strain/pulse pressure. RESULTS: Aortic strain and distensibility were significantly lower, and aortic stiffness index ß was significantly higher in the SSc group compared to the control group. While the systolic diameter of the aorta did not differ between study and control groups, the diastolic diameter of the aorta was significantly higher in SSc patients. On the other hand, left ventricular diastolic functions were compromised in the SSc group. Mitral A velocity, E-wave deceleration time and E/Em ratio were increased and mitral E/A ratio, lateral and medial annular Em velocity were significantly decreased in SSc patients. CONCLUSION: Our study demonstrated that aortic stiffness is increased and left ventricular diastolic functions are compromised in patients with SSc.

Impact of rheumatoid arthritis in Turkey: a questionnaire study.

OBJECTIVES: Unmet needs of rheumatoid arthritis (RA) patients regarding physician/patient communication, treatment preferences and quality of life issues were investigated in a Turkish survey study. METHODS: The study was conducted with the contribution of 33 rheumatologists, and included 519 RA patients. The study population included patients who had been on biologic therapy for >6 months and were still receiving biologic therapy (BT group), and those who were biologic naive, but found eligible for biologic treatment (NBT group). Of the RA patients, 35.5% initially had a visit to an internal disease specialist, 25.5% to a physical therapy and rehabilitation specialist, and 12.2% to a rheumatology specialist for their RA complaints. The diagnosis of RA was made by a rheumatologist in 48.2% of patients. RESULTS: The majority of RA patients (86.3%) visit their doctor within 15-week intervals. Most of the physician-patient communication focused on disease symptoms (99.0%) and impact of the disease on quality of life (61.8%). The proportion of RA patients who perceived their health status as good/very good/excellent was higher in the BT group than in the NBT group (74.3% vs. 51.5%, p<0.001). However, of those RA patients in the NBT group, only 24.8% have been recommended to start a biologic treatment by their doctors. With respect to dose frequency options, once-monthly injections were preferred (80%) to a bi-weekly injection schedule (8%). CONCLUSIONS: In conclusion, RA patients receiving biologic therapy reported higher rates of improved symptoms and better quality of life and seemed to be more satisfied with their treatment in our study.

Fibromyalgia in patients with other rheumatic diseases: prevalence and relationship with disease activity.

Fibromyalgia (FM) is a syndrome characterized by chronic widespread pain and the presence of specific tender points. The prevalence of FM has been estimated at 2-7 % of the general global population. The presence of FM in several rheumatic diseases with a structural pathology has been reported as 11-30 %. The objectives of this study were to determine the prevalence of FM and to evaluate the possible relationship between FM existence and disease activity among rheumatic diseases. The study group included 835 patients--197 rheumatoid arthritis (RA), 67 systemic lupus erythematosus (SLE), 119 ankylosing spondylitis (AS), 238 osteoarthritis (OA), 14 familial Mediterranean fever (FMF), 53 Behçet's disease (BD), 71 gout, 25 Sjögren's syndrome (SS), 20 vasculitis, 29 polymyalgia rheumatica (PMR), and two polymyositis (PM)--with or without FM. Recorded information included age, gender, laboratory parameters, presence of fatigue, and disease activity indexes. The prevalence of FM in patients with rheumatologic diseases was found to be 6.6 % for RA, 13.4 % for SLE, 12.6 % for AS, 10.1 % for OA, 5.7 % for BD, 7.1 % for FMF, 12 % for SS, 25 % for vasculitis, 1.4 % for gout, and 6.9 % for PMR. One out of two patients with PM was diagnosed with FM. Some rheumatologic cases (AS, OA) with FM were observed mostly in female patients (p = 0.000). Also, there were significant correlations between disease activity indexes and Fibromyalgia Impact Questionnaire scores for most rheumatologic patients (RA, AS, OA, and BD) (p < 0.05; respectively, r = 0.6, 0.95, 0.887, and 1). Concomitant FM is a common clinical problem in rheumatologic diseases, and its recognition is important for the optimal management of these diseases. Increased pain, physical limitations, and fatigue may be interpreted as increased activity of these diseases, and a common treatment option is the prescription of higher doses of biologic agents or corticosteroids. Considerations of the FM component in the management of rheumatologic diseases increase the likelihood of the success of the treatment.

Identification of multiple genetic susceptibility loci in Takayasu arteritis.

Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association with HLA-B*52. We genotyped ~200,000 genetic variants in two ethnically divergent Takayasu arteritis cohorts from Turkey and North America by using a custom-designed genotyping platform (Immunochip). Additional genetic variants and the classical HLA alleles were imputed and analyzed. We identified and confirmed two independent susceptibility loci within the HLA region (r(2) < 0.2): HLA-B/MICA (rs12524487, OR = 3.29, p = 5.57 × 10(-16)) and HLA-DQB1/HLA-DRB1 (rs113452171, OR = 2.34, p = 3.74 × 10(-9); and rs189754752, OR = 2.47, p = 4.22 × 10(-9)). In addition, we identified and confirmed a genetic association between Takayasu arteritis and the FCGR2A/FCGR3A locus on chromosome 1 (rs10919543, OR = 1.81, p = 5.89 × 10(-12)). The risk allele in this locus results in increased mRNA expression of FCGR2A. We also established the genetic association between IL12B and Takayasu arteritis (rs56167332, OR = 1.54, p = 2.18 × 10(-8)).

Takayasu's arteritis is associated with HLA-B*52, but not with HLA-B*51, in Turkey.

INTRODUCTION: HLA-B*51 and HLA-B*52 are two close human leukocyte antigen (HLA) allele groups with minor amino acid differences. However, they are associated with two different vasculitides (HLA-B*51 in Behçet's disease and HLA-B*52 in Takayasu's arteritis (TAK)) and with major clinical and immunological differences. In this study, we aimed to screen a large cohort of TAK patients from Turkey for the presence of HLA-B*51 and HLA-B*52 as susceptibility and severity factors. METHODS: TAK patients (n = 330) followed at a total of 15 centers were included in the study. The mean age of the patients was 37.8 years, and 86% were women. DNA samples from the patients and healthy controls (HC; n = 210) were isolated, and the presence of HLA-B*51 or HLA-B*52 was screened for by using PCR with sequence-specific primers. RESULTS: We found a significant association of HLA-B*52 with TAK (20.9% vs HC = 6.7%, P = 0.000, OR = 3.7, 95% CI = 2.02 to 6.77). The distribution of HLA-B*51 did not differ between TAK patients and HCs (22.7% vs 24.8%, OR = 0.9, 95% CI = 0.60 to 1.34). The presence of HLA-B*52 decreased in late-onset patients (> 40 years of age; 12.0%, P = 0.024, OR = 0.43, 95% CI = 0.20 to 0.91). Patients with angiographic type I disease with limited aortic involvement also had a lower presence of HLA-B*52 compared to those with all other disease subtypes (13.1% vs 26%, P = 0.005, OR = 0.43, 95% CI = 0.23 to 0.78). CONCLUSIONS: In this study, the previously reported association of TAK with HLA-B*52 in other populations was confirmed in patients from Turkey. The functional relevance of HLA-B*52 in TAK pathogenesis needs to be explored further.

PDCD1 polymorphisms are not associated with Takayasu's arteritis in Turkey.

OBJECTIVES: Takayasu's arteritis (TA) is a chronic arterial inflammation of unknown etiology involving mainly the aorta and its major branches. Based on the associations of programmed death-1 (PD-1) protein encoding gene (PDCD1) with connective tissue diseases and vasculitides, PDCD1 polymorphisms are studied for susceptibility to TA in this study. METHODS: The study group is made up of TA patients (n=229) fulfilling the 1990 ACR classification criteria and compared to 193 healthy controls (HC). PD-1.3, PD-1.5 and PD-1.6 single nucleotide polymorphisms of PDCD1 gene are genotyped by polymerase chain reaction and restriction analysis (PCR-RFLP). RESULTS: The distribution of PD-1.5 polymorphism in TA patients and HC revealed a similar presence of TT genotype in patients and controls (13.3% vs. 11.4%). PD-1.3 and PD-1.6 were less polymorphic and did not differ between the groups. Rare AA genotype of PD-1.3 (1.4% vs. 1.0%) and AG genotype of PD-1.6 was again similarly (22.4% vs. 19.2%) present in TA and HC. CONCLUSIONS: PD-1.3, 1.5 and 1.6 polymorphisms of PDCD1 gene, which were shown to be associated with various autoimmune disorders and vasculitides, are not associated with a susceptibility to TA in Turkish population.

Evaluating MEFV mutation frequency in Turkish familial Mediterranean fever suspected patients and gender correlation: a retrospective study.

Familial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease. FMF causes different clinical manifestations in different ethnic groups and countries. In this study, we retrospectively reviewed the records of 1,152 FMF suspected patients (673 female and 479 male) from November 2006 to December 2010. A commercial kit assay for the identification of MEFV (Mediterranean fever) gene mutations based on PCR and reverse-hybridization was used to investigate 12 mutations of the MEFV gene. 52.17% of 1,152 FMF suspected patients had MEFV mutation and 45.25% of them were male. The rate of MEFV mutation among male and female patients were 56.78 and 48.88%, respectively. These results were statistically significant and might support the suggestion that FMF had much more penetrance in male patients (P = 0.009). Not any significant difference was observed between the male and female patients in terms of heterozygote and homozygote mutation carriage rate (P = 0.071). Also not any significant difference was observed between the male and female patients in terms of compound heterozygote mutation carriage rate (P = 0.058).

Dynamic Doppler evaluation of the hand arteries to distinguish between primary and secondary raynaud phenomenon.

OBJECTIVE: The objective of our study was to use Doppler sonography to detect the flow characteristics and parameters of the hand arteries that are needed to distinguish between primary Raynaud phenomenon (RP) and secondary RP. SUBJECTS AND METHODS: The diameter, resistive index (RI), and flow volume of the digital, ulnar, and radial arteries of patients with primary RP and those with secondary RP were measured at rest and after cold provocation. The flow starting time in the digital artery and the flow normalizing time of all three arteries were also recorded after cold provocation. RESULTS: At baseline and after cold provocation, the diameters of the radial and digital arteries and the flow volumes of the three arteries were less in patients with secondary RP than in primary RP patients. In primary RP and secondary RP, the flow normalizing times (mean ± SD) were 9.8 ± 3.88 and 25.88 ± 7.14 minutes, respectively, in the radial artery; 11.3 ± 7.43 and 32.15 ± 12.57 minutes in the ulnar artery; and 12.22 ± 6.82 and 32.67 ± 10.76 minutes in the digital artery. A flow normalizing time cutoff in the radial artery of 17 minutes yielded a sensitivity of 90% and specificity of 100%. A flow normalizing time cutoff in the ulnar artery of 23 minutes yielded a sensitivity and specificity of 71% and 100%, respectively. A flow normalizing time cutoff in the digital artery of 23 minutes yielded a sensitivity and specificity of 82.6% and 98%, respectively. The flow starting time of the digital artery was 3.80 ± 3.27 minutes in primary RP and 16.78 ± 9.97 minutes in secondary RP (p < 0.0001). The flow starting time cutoff of the digital artery was 7 minutes (sensitivity, 82.6%; specificity, 95.7%). CONCLUSION: The diameter of the radial and distal arteries; flow volume; and flow volume normalizing time of the digital, ulnar, and radial arteries' flow starting time in the digital artery may be helpful in distinguishing between primary RP and secondary RP with high sensitivity and specificity values. These parameters may also facilitate objective follow-up of treatment. The noninvasive nature of Doppler sonography is an additional advantage, and there is no need for extra hardware or software.