T102C and -1438 G/A polymorphisms of the 5-HT2A receptor gene in Turkish patients with obsessive-compulsive disorder.

OBJECTIVE: This study aimed to investigate the possible association between T102C and -1438 G/A polymorphism in the 5-HT2A receptor gene and susceptibility to and clinical features of obsessive-compulsive disorder (OCD). METHOD: Fifty-eight patients with OCD and 83 healthy controls were included in the study. All patients were interviewed and rated by Yale-Brown Obsessive-Compulsive Scale. T102C and -1438 G/A polymorphisms of 5-HT2A receptor gene were determined by PCR technique in DNAs of peripheral leucocytes. RESULTS: OCD patients and healthy controls did not show significant differences in genotype distribution for both polymorphisms investigated. We found that frequencies of the TT genotype for T102C polymorphism and the AA genotype for -1438 G/A polymorphism were significantly higher in patients with severe OCD compared to those with moderate or moderate-severe OCD. CONCLUSION: The -1438 G/A and T102C polymorphisms of the 5-HT2A receptor gene are not associated with an increased risk of OCD. Our data suggest that the TT genotype of T102C and the AA genotype of -1438 G/A polymorphism might be a factor in clinical severity of OCD.     

GST (GSTM1, GSTT1, and GSTP1) polymorphisms in the genetic susceptibility of Turkish patients to cervical cancer

Objective

This work investigates the role of glutathione S-transferase M1 (GSTM1), glutathione S-transferase T1 (GSTT1), and glutathione S-transferase P1 (GSTP1) enzymes and polymorphisms, which are found in phase II detoxification reactions in the development of cervical cancer.

Methods

This study was conducted with 46 patients diagnosed with cervical cancer and 52 people with no cancer history. Multiplex PCR methods were used to evaluate the GSTM1 and GSTT1 gene polymorphism. However, the GSTP1 (Ile105Val) gene polymorphism was studied using a PCR-RFLP method. The patient and control groups were compared using a chi-square test with p<0.05.

Results

In the patient group, statistical significance was determined for gravidity (p=0.03), parity (p=0.01), and the number of living children (p=0.01) compared to the control group. The gene frequency of GSTM1, GSTT1, and GSTP1 polymorphisms was evaluated. We observed that GSTM1 and GSTT1 null genotype frequencies were 54.3% and 32.6% respectively, while GSTP1 (Ile/Val), (Ile/Ile), (Val/Val) genotype frequencies were 52%, 44%, and 4%, respectively, in the cervical cancer patients. No statistical variation was determined between the control and patient groups in terms of GSTM1, GSTT1, and GSTP1 polymorphisms (p>0.05).

Conclusion

Our results demonstrate that GSTT1, GSTM1, and GSTP1 polymorphisms are not associated with cervical cancer in Turkish patients.     

Sacroiliitis in familial Mediterranean fever and seronegative spondyloarthropathy: importance of differential diagnosis

Familial Mediterranean fever (FMF) is a multisystemic autosomal recessive disease, occasionally accompanied by sacroiliitis. Transient and non-erosive arthritis of the large joints is the most frequent articular involvement. Amyloidosis is also the most significant complication of FMF, leading to end stage renal disease. Here we present three cases of FMF with sacroiliitis and review the literature for spinal arthritic involvement of FMF. All cases were referred to our clinic with a diagnosis of seronegative spondyloarthropathy and with low back pain sourced by sacroiliitis. They also had homozygous M694V gene mutations and negative HLA B27 antigens. Molecular analysis of the gene mutation is recommended during the evaluation of uncertain cases in order to clarify diagnostic discrimination. We suggest that FMF with sacroiliitis, which is rare in rheumatological practice, should be considered in the differential diagnosis of seronegative spondyloarthropathy or other rheumatologic diseases causing spinal involvement.     

Elevated serum S100B protein and neuron-specific enolase levels in carbon monoxide poisoning

Objective

Carbon monoxide (CO) poisoning causes cerebral and generalized hypoxia. This study aimed to assess the possible use of serum glial marker S100B protein and neuron-specific enolase (NSE) as biochemical markers of hypoxic brain damage in acute CO poisoning.

Methods

Patients with acute CO poisoning admitted to the ED of 2 training hospitals (Ankara, Turkey) were included in this cross-sectional study. Serum levels of S100B and NSE were measured on admission. The patients were divided into 2 groups (unconscious and conscious). Twenty healthy adults were included in the study to serve as controls.

Results

A total of 70 patients poisoned by CO (mean age ± SD, 36.6 ± 16.3 years; 64.3% women) were enrolled. Although S100B concentrations were higher in patients than in the control group (P = .018), no significant difference was determined between patient and control groups with respect to NSE concentrations (P = .801). A positive correlation was noted between levels of S100B and NSE (r = 0.388; P = .001). The S100B and NSE values were higher in unconscious patients than in the control group (P = .002 and P = .013, respectively). Furthermore, S100B and NSE values were higher in unconscious vs unconscious patients (P = .047 and P = .005, respectively).

Conclusion

Elevated serum S100B and NSE levels were associated with loss of consciousness in CO poisoning in this series of patients. Serum S100B and NSE may be useful markers in the assessment of clinical status in CO poisoning.     

Short-term effect of levosimendan on free light chain kappa and lambda levels in patients with decompensated chronic heart failure

To investigate the effects of levosimendan, a positive inotropic agent, on the new heart failure markers immunoglobulin free light chains kappa and lambda (FLC-κ and FLC-λ) in decompensated chronic heart failure (HF), 59 patients with New York Heart Association (NYHA) class III–IV HF were enrolled. Patients were randomized into levosimendan (n = 31) and standard HF treatment (n = 29) groups. Serum FLC-κ and FLC-λ, brain natriuretic peptide (BNP), and ejection fraction (EF) were measured before treatment and on the 5th day of treatment initiation. Forty-two percent of subjects were females (n = 25) and overall mean age was 64.1 ± 10.7 years. FLC-κ (P < 0.05) and FLC-λ (P < 0.05) were significantly decreased in the levosimendan group compared to baseline, but no difference in either marker in the standard treatment group was observed. Pre- and post-treatment FLC-κ/FLC-λ ratios in both groups were similar, whereas FLC-κ and FLC-λ levels and the FLC-κ/FLC-λ ratio showed no significant correlation with NYHA class, brain natriuretic peptide (BNP) and ejection fraction (EF) levels; and BNP and EF changes after the treatment. Symptomatic improvement in the levosimendan group according to the NYHA class was significantly better than in the standard treatment group (P = 0.044). While 55.2% of patients in the levosimendan group showed a 1-degree shift to lower NYHA classes, 10.3% showed a 2-degree decrease. In conclusion, levosimendan caused short-term hemodynamic and symptomatic improvements, with a more pronounced decrease in FLC levels in patients with advanced decompensated HF.     

Is Left Main Coronary Artery Stenosis a Risk Factor for Early Mortality in Coronary Artery Surgery?

It is accepted universally that the treatment of critical left main coronary artery (LMCA) stenosis is surgical revascularization. This study was designed to evaluate critical LMCA stenosis as a risk factor in coronary artery bypass surgery. We compared the surgical results of 760 patients with critical LMCA disease, including 58 cases who were operated under emergency conditions (LMCA-em) and 702 patients who were operated electively (LMCA-el), with randomly chosen 707 coronary bypass patients (CONT-el) without LMCA disease, but who had double- or triple-vessel disease. Another group of patients (n = 99) who were operated on under emergency conditions (CONT-em) but without LMCA disease were also compared with the corresponding groups. The mortality of LMCA-em group and CONT-em group was markedly higher from the other two groups. Univariate analysis revealed that female gender, older age, presence of diabetes mellitus, poor left ventricular function, and the presence of unstable angina were major risk factors for fatal outcome in LMCA-el and CONT-el groups. Age was also a risk factor in LMCA-em group, as well as unstable angina pectoris. The coexistence of critical right coronary artery disease did not affect the early outcome in both groups with LMCA lesions. In the multivariate analysis, critical LMCA disease was not a risk factor for mortality. Logistic regression analysis revealed diabetes [odds ratio (OR): 3.66], poor left ventricular function (higher left ventricle end-diastolic pressure, OR: 1.08), and emergent operations (OR: 5.09) were risk factors for early mortality. Patients with LMCA disease should have surgery promptly for favorable results, because emergency conditions have higher mortality rates.     

Bilateral basal ganglionic lesions due to transdermal methanol intoxication

Methanol is a clear, colorless, and highly toxic liquid with a similar smell and taste to ethanol, and is found in many commercial products such as solvents and cleaning fluids. Severe methanol intoxication occurs after suicidal or accidental oral ingestion of solvents. A few patients with methanol intoxication via the transdermal route have been reported. We present a 47-year-old woman with acute transdermal methanol intoxication admitted to the emergency department with weakness, blurred vision, bilateral areactive mydriasis, and deterioration of consciousness.