Does transcranial direct current stimulation enhance cognitive performance in Parkinson's disease mild cognitive impairment? An event-related potentials and neuropsychological assessment study.

BACKGROUND: Parkinson's disease-mild cognitive impairment (PD-MCI) is garnering attention as a key interventional period for cognitive impairment. Currently, there are no approved treatments for PD-MCI and encouraging results of transcranial direct current stimulation (tDCS) combined with other interventions have been proposed, though the efficacy and neural mechanisms of tDCS alone have not been studied in PD-MCI yet. OBJECTIVES: The present double-blind, randomized, sham-controlled study assessed the effects of tDCS over the dorsolateral prefrontal cortex on cognitive functions via neuropsychological and electrophysiological evaluations in individuals with PD-MCI for the first time. METHOD: Twenty-six individuals with PD-MCI were administered 10 sessions of active (n = 13) or sham (n = 13) prefrontal tDCS twice a day, for 5 days. Changes were tested through a comprehensive neuropsychological battery and event-related potential recordings, which were performed before, immediately, and 1 month after the administrations. RESULTS: Neuropsychological assessment showed an improvement in delayed recall and executive functions in the active group. N1 amplitudes in response to targets in the oddball test-likely indexing attention and discriminability and NoGo N2 amplitudes in the continuous performance test-likely indexing cognitive control and conflict monitoring increased in the active group. Active stimulation elicited higher benefits 1 month after the administrations. CONCLUSION: The present findings substantiate the efficacy of tDCS on cognitive control and episodic memory, along with the neural underpinnings of cognitive control, highlighting its potential for therapeutic utility in PD-MCI. TRIAL REGISTRATION: NCT 04,171,804. Date of registration: 21/11/2019.

Effects of Hyperbaric Nitrogen Narcosis on Cognitive Performance in Recreational air SCUBA Divers: An Auditory Event-related Brain Potentials Study.

BACKGROUND: The narcotic effect of hyperbaric nitrogen is most pronounced in air-breathing divers because it impairs diver's cognitive and behavioral performance, and limits the depth of dive profiles. We aimed to investigate the cognitive effects of simulated (500 kPa) air environments in recreational SCUBA divers, revealed by auditory event-related potentials (AERPs). METHODS: A total of 18 healthy volunteer recreational air SCUBA divers participated in the study. AERPs were recorded in pre-dive, deep-dive, and post-dive sessions. RESULTS: False-positive score variables were found with significantly higher differences and longer reaction times of hits during deep-dive and post-dive than pre-dive sessions. Also, P3 amplitudes were significantly reduced and peak latencies were prolonged during both deep-dive and post-dive compared with pre-dive sessions. CONCLUSION: We observed that nitrogen narcosis at 500 kPa pressure in the dry hyperbaric chamber has a mild-to-moderate negative effect on the cognitive performance of recreational air SCUBA divers, which threatened the safety of diving. Although relatively decreased, this effect also continued in the post-dive sessions. These negative effects are especially important for divers engaged in open-sea diving. Our results show crucial implications for the kinds of control measures that can help to prevent nitrogen narcosis and diving accidents at depths up to 40 msw.

Evaluation of DNA damages in congenital hearing loss patients.

In the current study, we aimed to compare the level of genetic damages measured as micronucleus (MN), nucleoplasmic bridge (NPB), and nuclear bud formation (NBUD) in congenital hearing loss patients (n = 17) and control group (n = 24). The cytokinesis-blocked micronucleus assay (CBMN) was applied to the blood samples to measure the frequency of the markers in both groups. The frequencies of MN of hearing loss patients were found to be consistently significantly higher than those obtained for the control group (p < 0.0001). Similarly, we found significantly higher frequency of NPB in patients was obtained for the patient group (p < 0.0001). Finally, the frequencies of NBUD in patients is significantly higher than the level measured in the control group (p < 0.0001). Furthermore, the age-adjusted MNL, BNMN, NPB, and NBUD frequencies in the patients were significantly higher than those obtained in the control group. We observed that the frequency of MN in patients was positively correlated with NBUD frequency which may indicate a common mechanism for these biomarkers in the patient group. We found, for the first time, that there were statistically significant higher levels of MN, NPB, and NBUD in sensorineural hearing loss patients. Since the markers we evaluated were linked with crucial diseases, our findings might suggest that sensorineural hearing loss patients are susceptible to several crucial diseases, especially cancer. Furthermore, the results demonstrated the significance of the MN, NPB, and NBUD level and thus provides a potential marker for the diagnosis of congenital hearing loss patients.

Blastic Plasmacytoid Dendritic Cell Neoplasm: Single Center Experience on a Rare Hematological Malignancy.

PURPOSE: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and poor prognostic hematological malignancy. There is still no standard treatment established for BPDCN patients. We aim to summarize the main clinical, biological features and treatment of 9 BPDCN patients. METHODS: Nine patients with BPDCN who had been diagnosed between July 2008 and December 2018 in Ankara University School of Medicine, were retrospectively evaluated. RESULTS: All patients (n = 9) were male, median age was 64 (21-80). Five patients (55.6%) had bone marrow infiltration, 5 patients (55.6%) cutaneous lesions, 6 patients (66.7%) lymph node involvement, 2 patients (22.2%) central nervous system involvement and 2 patients (22.2%) spleen involvement at time of diagnosis. Complex karyotype was observed in 2 patients. CHOP was given to 5 patients (55.6%), hyper-CVAD to 2 patients (22.2%), fludarabine, cyclophosphamide and mitoxantrone to 1 patient (11.1%) and cyclophosphamide, etoposide, methylprednisolone to 1 patient (11.1%) as first line chemotherapy. Four patients (44.4%) underwent allogeneic hematopoietic stem cell transplantation (AHSCT) in complete remission (CR) 1. Venetoclax was given to a transplant ineligible patient who had skin and lymph node involvement, with the off-label use. The median follow-up time was 15.9 months (3-48.6 months). Estimated median overall survival was 15.9 + 1.6 (95% CI 12.7-19.1) months. CONCLUSION: Intensive induction therapies followed by AHSCT in CR seems to be best approaches for patients with BPDCN. Thus, more effective treatment strategies particularly targeted therapies should be warranted to improve the survival of patients with this rare disease.

Highlighting the Prognostic Importance of Measurable Residual Disease Among Acute Myeloid Leukemia Risk Factors

Objective: The optimal timing of measurable residual disease (MRD) evaluation in acute myeloid leukemia (AML) patients has not been well defined yet. We aimed to investigate the impact of MRD in pre- and post-allogeneic hematopoietic stem cell transplantation (AHSCT) periods on prognostic parameters. Materials and Methods: Seventy-seven AML patients who underwent AHSCT in complete morphological remission were included. MRD analyses were performed by 10-color MFC and 10-4 was defined as positive. Relapse risk and survival outcomes were assessed based on pre- and post-AHSCT MRD positivity. Results: The median age of the patients was 46 (range: 18-71) years, and 41 (53.2%) were male while 36 (46.8%) were female. The median follow-up after AHSCT was 12.2 months (range: 0.2-73.0). The 2-year overall survival (OS) in the entire cohort was 37.0%, with a significant difference between patients who were MRD-negative and MRD-positive before AHSCT, estimated as 63.0% versus 16.0%, respectively (p=0.005). MRD positivity at +28 days after AHSCT was also associated with significantly inferior 2-year OS when compared to MRD negativity (p=0.03). The risk of relapse at 1 year was 2.4 times higher (95% confidence interval: 1.1-5.6; p=0.04) in the pre-AHSCT MRD-positive group when compared to the MRD-negative group regardless of other transplant-related factors, including pre-AHSCT disease status (i.e., complete remission 1 and 2). Event-free survival (EFS) was significantly shorter in patients who were pre-AHSCT MRD-positive (p=0.016). Post-AHSCT MRD positivity was also related to an increased relapse risk. OS and EFS were significantly inferior among MRD-positive patients at +28 days after AHSCT (p=0.03 and p=0.019). Conclusion: Our results indicate the importance of MRD before and after AHSCT independently of other factors.

Cognition of the mothers of patients with Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) has been found to be associated with cognitive impairment. However, few studies have addressed cognitive impairment among mothers of children with DMD. In the present study, the neuropsychological profiles of both carrier mothers (C-Ms) and noncarrier mothers (NC-Ms) were examined, and the findings were compared with healthy control mothers (HC-Ms). There were 90 participants, consisting of 31 C-Ms, 24 NC-Ms, and 35 HC-Ms, each of whom completed a neuropsychological test battery. C-Ms had poorer cognition performance in attention, working memory, immediate verbal memory, visuospatial skills, and executive functions than NC-Ms, and HC-Ms. This study provides evidence that there may be cognitive impairment in mothers of patients with DMD. The cognitive impairment of C-Ms has similarities to that seen in children with DMD.

Event-related potential changes due to early-onset Parkinson's disease in parkin (PARK2) gene mutation carriers and non-carriers.

OBJECTIVE: To investigate cognitive functions in non-demented patients with early-onset Parkinson's disease (PD), and to compare PARK2 gene mutation carriers and non-carriers by means of event-related brain potentials (ERPs). METHODS: The participants comprised patients with early-onset PD (EOPD) and healthy controls (HC). Patients with EOPD were divided into two groups as carriers of known pathogenic variants of PARK2 gene (EOPD-PC) and non-carriers of genes involved in familial PD (EOPD-NC). ERP data were collected during auditory oddball and visual continuous performance test (CPT). RESULTS: Both EOPD groups (EOPD-PC and EOPD-NC) displayed reduced and delayed P3 in response to oddball target and CPT NoGo. CPT Go P3 was reduced in EOPD-NC but not in EOPD-PC. Oddball target N1 was reduced and P2 was enhanced in both EOPD-PC and EOPD-NC. In both cognitive tasks, RTs were prolonged and accuracy was lower in EOPD-PC and EOPD-NC. CONCLUSIONS: We found several EOPD-related neurophysiologic changes, implying impairments in cognitive functions. Pairwise comparisons between EOPD-PC and EOPD-NC revealed no significant ERP marker. SIGNIFICANCE: In this study, the confounding effect of normative aging was somewhat excluded compared with many previous studies. In contrast with the many oddball studies in non-demented PD, we clearly observed reduced and prolonged P3 in early-onset PD. Our NoGo P3 findings also contribute to the limited ERP research concerning response inhibition.

Lower prepulse inhibition in clinical high-risk groups but not in familial risk groups for psychosis compared with healthy controls.

AIM: Although the lower level of prepulse inhibition (PPI) of the startle response is well known in schizophrenia, the onset of this difference is not clear. The aim of the present study was to compare PPI in individuals with clinical and familial high risk for psychosis, and healthy controls. METHODS: We studied PPI in individuals within three groups: ultra-high risk for psychosis (UHR, n = 29), familial high risk for psychosis (FHR, n = 24) and healthy controls (HC, n = 28). The FHR group was chosen among siblings of patients with schizophrenia, whereas UHR was defined based on the Comprehensive Assessment of At-Risk Mental States (CAARMS). We collected clinical data using the BPRS-E, SANS and SAPS when individuals with UHR were antipsychotic-naïve. A cognitive battery that assessed attention, cognitive flexibility, working memory, verbal learning and memory domains was applied to all participants. RESULTS: PPI was lower in the UHR group compared with both the FHR and HC groups. Those with a positive family history for schizophrenia had lower PPI than others in the UHR group. There was no difference in PPI between the FHR and HC groups. We found no relationship between PPI and cognitive performance in the three groups. Startle reactivity was not different among the three groups. Positive and negative symptoms were not related to PPI and startle reactivity in the UHR group. CONCLUSIONS: Our findings suggest that clinical and familial high-risk groups for psychosis have different patterns of PPI.

Prospective Analysis of Hemorrhagic Cystitis and BK Viremia in Allogeneic Hematopoietic Stem Cell Transplantation

Objective: BK virus (BKV) infection has been shown to be related to hemorrhagic cystitis (HC) in allogeneic hematopoietic stem cell transplantation (allo-HSCT). There are conflicting data regarding the association between BKV titers in plasma and clinical disease as well as the risk factors for BKV-related HC. Our aim is to study the risk factors and relationship with plasma BK viral load for development of HC in a prospective analysis. Materials and Methods: We prospectively evaluated 59 patients who received allo-HSCT between 2014 and 2016 by quantitative BK virus polymerase chain reaction (PCR) (Altona Diagnostics, Germany) from blood samples at days 0, 30, 60, and 90 after allo-HSCT. The patients were monitored for signs and symptoms of HC. Results: HC was diagnosed in 22 patients (37%) at a mean of 100 days (range: 0-367 days). In multivariate analysis, the usage of cyclophosphamide (sub-distribution hazard ratio [sdHR]: 7.82, confidence interval [CI]: 1.375-39.645, p=0.02), reactivated CMV (sdHR: 6.105, CI: 1.614-23.094, p=0.008), and positive BKV viremia (sdHR: 2.15, CI: 1.456-22.065, p=0.01) significantly increased the risk of developing HC. Patients with higher viral loads at day 30 and day 60 were diagnosed with more severe HC (p<0.001). Median BK viral loads of >101.5 copies/mL at day 0 (sensitivity 0.727, specificity 0.875), >98.5 copies/mL at day 30 (sensitivity 0.909, specificity 0.875), and >90.0 copies/mL at day 60 (sensitivity 0.909, specificity 0.875) were indicative of HC. Conclusion: Our study showed that administration of cyclophosphamide, CMV reactivation, and BK virus positivity were associated with HC. Plasma BK virus PCR titers at days 0, 30, and 60 after transplant were sensitive tools for predicting clinically proven HC.

Measurement of cognitive dynamics during video watching through event-related potentials (ERPs) and oscillations (EROs).

Event-related potentials (ERPs) and oscillations (EROs) are reliable measures of cognition, but they require time-locked electroencephalographic (EEG) data to repetitive triggers that are not available in continuous sensory input streams. However, such real-life-like stimulation by videos or virtual-reality environments may serve as powerful means of creating specific cognitive or affective states and help to investigate dysfunctions in psychiatric and neurological disorders more efficiently. This study aims to develop a method to generate ERPs and EROs during watching videos. Repeated luminance changes were introduced on short video segments, while EEGs of 10 subjects were recorded. The ERP/EROs time-locked to these distortions were analyzed in time and time-frequency domains and tested for their cognitive significance through a long term memory test that included frames from the watched videos. For each subject, ERPs and EROs corresponding to video segments of recalled images with 25% shortest and 25% longest reaction times were compared. ERPs produced by transient luminance changes displayed statistically significant fluctuations both in time and time-frequency domains. Statistical analyses showed that a positivity around 450 ms, a negativity around 500 ms and delta and theta EROs correlated with memory performance. Few studies mixed video streams with simultaneous ERP/ERO experiments with discrete task-relevant or passively presented auditory or somatosensory stimuli, while the present study, by obtaining ERPs and EROs to task-irrelevant events in the same sensory modality as that of the continuous sensory input, produces minimal interference with the main focus of attention on the video stream.

Evaluation of cognitive performance in professional divers by means of event-related potentials and neuropsychology.

OBJECTIVE: We investigated whether professional air diving with no decompression illness causes any long-term changes in cognitive functions. METHODS: The all-male participants consisted of 18 healthy control (HC) volunteers and 32 divers. Divers were divided into two subgroups as moderate exposure group, Divers-I (DI) and extensive exposure group, Divers-II (DII). Participants were administered a comprehensive neuropsychological battery and event-related potentials (ERPs) were recorded while they performed auditory oddball task and visual continuous performance test (CPT). RESULTS: P3 waves in oddball and CPT were significantly attenuated and peak latencies were prolonged in both diver groups compared with HC. Amplitude decrements in CPT P3 were graded with respect to level of diving exposure. Neuropsychologically, DII group displayed significantly poorer performance than HC and DI groups in measures of visuo-constructional and visual long-term memory tests. DI group performed better than HC group in some measures of planning ability. CONCLUSIONS: Most of the changes in neurophysiological measures and poorer neuropsychological performance were found in DII group, and this might be interpreted as a red flag for the reflection of the slowly progressing deleterious effects of silent bubbles in brain function. SIGNIFICANCE: This study reports impairments in certain neuropsychological measures and apparent neurophysiological markers pointing to slow cognitive decline referring to long-term effects of diving.

Time-frequency analysis of the event-related potentials associated with the Stroop test.

Multiple executive processes are suggested to be engaged at Stroop test, and time-frequency analysis is acknowledged to improve the informative utility of EEG in cognitive brain research. We aimed to investigate event-related oscillations associated with the Stroop test. EEG data was collected from 23 healthy volunteers while they performed a computer version of Stroop test. Both evoked (phase-locked) and total (phase-locked+non-phase-locked) oscillatory responses in the EEG were analyzed by wavelet transform. Data from the congruent (color-word matching) and incongruent stimuli (color-word non-matching) conditions are compared. In the incongruent condition, N450 wave was more negative and amplitude of the late slow wave was more positive. In the time-frequency plane, the fronto-central total theta amplitude (300-700 ms) was larger in the incongruent condition. The evoked delta (250-600 ms) was larger in the congruent condition particularly over parieto-occipital regions. The larger frontal theta response in the incongruent condition was associated with the detection of interference and inhibition of the response to task-irrelevant features, while the larger evoked delta in the congruent condition was suggestive of the easier decision process owing to congruency between the physical attribute and the verbal meaning of the stimuli. Furthermore, in the incongruent condition, amplitude of the occipital total alpha in the very late phase (700-900 ms) was smaller. This prolonged desynchronization in the alpha band could be reflecting augmentation of attentional filters in visual modality for the next stimulus. These multiple findings on EEG time-frequency plane provide improved description of the overlapping processes in Stroop test.

Vagus nerve stimulation inhibits seizure activity and protects blood-brain barrier integrity in kindled rats with cortical dysplasia.

AIMS: This study investigates the effects of vagus nerve stimulation (VNS) on seizure severity and blood-brain barrier (BBB) integrity in kindled rats with cortical dysplasia (CD). MAIN METHODS: Pregnant rats were exposed to 145 cGy of gamma-irradiation on day 17 of pregnancy. In offsprings, kindling was induced by giving subconvulsive doses of pentylenetetrazole. Left VNS was performed for 48 h at output currents of 0.5 or 1 mA. Horseradish peroxidase (HRP) was used to study the BBB permeability. Immunohistochemistry for occludin and P-glycoprotein (P-gp) was also performed. KEY FINDINGS: Kindled rats with CD exhibited seizures with mean Racine's scores of 3.57 ± 1.2 during video EEG recording. Kindled animals with CD receiving VNS at 0.5 and 1.0 mA did not exhibit either clinical or electrophysiological signs of seizure. Immunostaining for occludin, a tight junction protein, in hippocampus remained relatively intact in all groups. VNS-treated and -untreated kindled animals with CD revealed intense immunostaining for P-gp in hippocampal formation (P<0.01). Electron microscopic observations revealed frequent transport vesicles containing electron-dense HRP reaction products in the cytoplasm of brain capillary endothelial cells in both cerebral cortex and hippocampus of kindled animals with CD. Those which were exposed to 1 mA VNS were observed to have brain capillary endothelial cells largely devoid of HRP reaction products in both cerebral cortex and hippocampus. SIGNIFICANCE: The results of this study suggest that VNS therapy at 1 mA inhibits seizure activity and protects BBB integrity by limiting the enhancement of transcellular pathway in kindled animals with CD.

Cognitive evaluation of bupropion sustained release in heavy tobacco smokers using event-related potentials.

OBJECTIVE. The aim of this study was to investigate the effects of bupropion sustained release (SR) on cognitive function, evaluated by event-related potentials (ERPs), in heavy tobacco smokers. MATERIAL AND METHODS. A total of 10 healthy volunteers (6 men and 4 women) were enrolled into the study. P3a and P3b components were evaluated by the novelty P3 paradigm. The ERP recordings were taken after the overnight abstaining and the first dose on the 1st day, on the 7th day, and 45th day of the therapy. RESULTS. The analysis of electrophysiological data in response to the standard stimuli in the parietal area after 7-day bupropion SR treatment revealed a significant increase in the P2 latency (P<0.05). With respect to the drug use × topography effect, an increasing trend of borderline significance in the P3b and P2 amplitudes against target events in the parietal area was observed (P=0.08 for both). A significant increase in the P3a amplitude in the parietocentral area was also observed on the seventh day of treatment (P<0.05). CONCLUSIONS. The reduction of P3a in the frontal area may be due to the decreased distractibility of task-irrelevant novel events, which may mean an augmentation of focused attention to task-relevant target events. The increases in the P3b and P2 amplitudes for target events in the parietal area are very suggestive of this hypothesis, since these components reflect the response to task-relevant target events. Meanwhile, the increased P2 latency for standard events may reflect reduced attention resources for the processing of standard events due to increased attention resources allocated for task-relevant target events. Decreased distractibility and increased attention are believed to be caused by bupropion.

Application of multifrequency bioelectrical impedance analysis method for the detection of dehydration status in professional divers.

BACKGROUND AND OBJECTIVE: The level of dehydration has been known to be a predisposing factor for the development of decompression sickness in divers. The aim of this study was to determine the level of dehydration in divers who dove with heliox and to determine whether the source of this dehydration was intracellular and/or extracellular by means of multifrequency bioelectrical impedance analysis (MF-BIA). MATERIAL AND METHODS: Eleven male professional divers were enrolled in the study. In order to determine the level of dehydration, MF-BIA was carried out (at 5, 50, and 100 kHz) and capillary hematocrit (Hct) was measured two times: one before diving and the other after leaving the pressure room. RESULTS: When prediving and postdiving parameters were compared, significant increases in the resistance at 5 kHz (P<0.001), 50 kHz, (P<0.001), and 100 kHz (P<0.01) and Hct (P<0.01) were observed after the diving. Similarly, a statistically significant fluid shift was found: total body water, -1.30 L (P<0.001), extracellular water, -0.85 L (P<0.001); and intracellular water, -0.45 L (P=0.011). CONCLUSIONS: Our results showed that mild dehydration occurred both in the intracellular and extracellular compartments in divers after deep diving. This study also indicates that MF-BIA could be a reliable new method for determining the dehydration status in divers.

P3 response during short-term memory retrieval revisited by a spatio-temporal analysis.

The most reported event related potential (ERP) parameter during short-term memory retrieval has been P3 wave and the association has been built on the relation between P3 latency and reaction times. The aim of this study is to identify an ERP component that reflects the memory scanning process preceding the decision making stage which has been associated with the P3 peak. A spatiotemporal analysis was applied on the P3 and pre-P3 period of ERP responses obtained during the retrieval phase of the Sternberg paradigm with two memory load conditions (3 and 5 letters in the memory set). In the easy task condition with the fastest reaction times (positive probes of 3 letters condition), a single P3 was observed, whereas P3 was split into two peaks in responses to probe items of more demanding task conditions. The single P3 peak and the later components of the split P3 peaks displayed the typical P3 topography. On the other hand, the topographic mapping of the earlier peak of the split P3 wave and ascending part of the single P3 peak revealed a right parietal topography. The onset time of this earlier right lateralized topography was stable among all conditions but it persisted longer in the high memory load condition. We conclude that the right-lateralized positivity in the pre-P3 period reflects the memory scanning process followed by the P3 peak with midline parietal topography reflecting the decision making process.

Alterations in promoter methylation status of tumor suppressor HIC1, SFRP2, and DAPK1 genes in prostate carcinomas.

Hypermethylated genomic DNA is a common feature in tumoral tissues, although the prevalence of this modification remains poorly understood. We aimed to determine the frequency of five tumor suppressor (TS) genes in prostate cancer and the correlation between promoter hypermethylation of these genes and low and high grade of prostate carcinomas. A total of 30 prostate tumor specimens were investigated for promoter methylation status of TS hypermethylated in cancer 1 (HIC1), death-associated protein kinase 1 (DAPK1), secreted frizzled-related protein 2 (SFRP2), cyclin-dependent kinase inhibitor 2A (p16), and O-6-methylguanine-DNA methyltransferase (MGMT) genes by using bisulfite modifying method. A high frequency of promoter hypermethylation was found in HIC1 (70.9%), SFRP2 (58.3%), and DAPK1 (33.3%) genes in tumor samples that were examined. The current data show high frequency of hypermethylation changes in HIC1, SFRP2, and DAPK1 genes in prostate carcinomas of high Gleason Score (GS).

Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers.

The Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas-middle Anatolian city. The cohort was composed of 3340 patients. MEFV gene mutations were studied by multiplex PCR based reverse hybridization stripAssay method. Patients' clinical features were; family history: 68%, erysipelas-like erythema: 17.6%, fever: 89.9%, abdominal pain: 84.2%, peritonitis: 90.2%, arthritis: 33%, pleuritis: 14.2%, parental consanguinity: 21.2%. Current results revealed that M694V is the most frequent mutation (43.12%), followed by E148Q (20.18), M680I(G/C) (15.00%) and V726A (11.32%). The study population has a high rate of carriers and the E148Q mutation frequency was found to be highest when compared to the other regions of Turkey and other Mediterranean groups.