Suheyla Uzun Kaya

Significance of MEFV gene R202Q polymorphism in Turkish familial Mediterranean fever patients

OBJECTIVE Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. The disease is associated with mutations in the Mediterranean fever (MEFV) gene, which encodes for the pyrin protein. The aim of this study was to explore the frequency and clinical significance of the R202Q (c.605G>A) polymorphism in exon 2 of the MEFV gene in a cohort of Turkish patients with FMF. METHODS The study included 191 patients with FMF and 150 healthy controls. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay for the MEFV gene R202Q polymorphism. RESULTS The genotype and allele frequencies of R202Q polymorphism showed a statistically significant difference between FMF patients and controls (p<0.0001 and p=0.0004, respectively) and especially the homozygous AA genotype was significantly higher in FMF patients than healthy controls (p=0.0002; odds ratio=6.27; 95% CI=2.1-18.3). However no significant association was observed between clinical and demographic features of FMF patients and R202Qpolymorphism. CONCLUSION The results of this study showed that there was a high association between MEFV gene R202Q polymorphism and FMF. R202Q polymorphism should be included in routine molecular diagnosis of FMF patients.

High Association of IL-4 Gene Intron 3 VNTR Polymorphism with Diabetic Peripheral Neuropathy

Diabetic peripheral neuropathy (DPN) is a common disease. It is one of the late complications of diabetes mellitus. DPN can lower the quality of life by causing severe painful clinic symptoms. The aim of this study is to evaluate interleukin (IL)-4 gene variable number of tandem repeat (VNTR) polymorphism on DPN in Turkish population. Two hundred and twenty-seven DPN patients and 241 controls were enrolled in this study. Genomic DNA was isolated and genotyped using polymerase chain reaction analyses for the IL-4 gene intron 3 VNTR polymorphism. The distribution of genotype frequencies of IL-4 gene intron 3 VNTR polymorphism was statistically different between DPN patients and control group (p = 0.001). The frequency of P1 and P2 alleles was statistically different between DPN patients and control group (p = 0.00009). The results of this study suggested that intron 3 VNTR polymorphism of the IL-4 gene plays an important role in the occurrence of DPN in the Turkish population.

The relationship between the neutrophil-lymphocyte ratio and disease activity in patients with ulcerative colitis.

Preliminary evidence suggests that a higher neutrophil–lymphocyte ratio (NLR) may be an indicator of active ulcerative colitis (UC). However, it is not clear whether the NLR is a useful and simple indicator of clinical activity in UC after adjusting for the other inflammatory markers. We designed a retrospective study to evaluate the role of the NLR in estimating disease severity in UC patients. The study consisted of 71 patients with UC and 140 age‐ and sex‐matched healthy individuals (control group). The NLR, erythrocyte sedimentation rate, C‐reactive protein, and white blood cell count were measured. The NLR values of the active UC group were elevated compared with those of the patients with inactive UC and the controls (2.59 ± 1.47, 2.03 ± 1.07, and 1.98 ± 0.85, respectively; p = 0.005). The receiver operating characteristic revealed that the optimum NLR cut‐off point for active UC was 2.39. A multivariable logistic analysis showed that of the parameters studied, C‐reactive protein was the only parameter able to significantly discriminate active from inactive UC (B: 0.222; p = 0.017; odds ratio: 1.248; 95% confidence interval: 1.041–1.497).

MTHFR gene C677T and A1298C variants are associated with FMF risk in a Turkish cohort

Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in homocysteine (Hcy) metabolism. We aimed to evaluate a possible relationship between MTHFR gene C677T (rs 1801133), A1298C (rs 1801131) variants and susceptibility to FMF in a Turkish cohort.

Interleukin-1Ra rs2234663 and Interleukin-4 rs79071878 Polymorphisms in Familial Mediterranean Fever

OBJECTIVE Familial Mediterranean Fever (FMF) is an autosomal recessively inherited auto inflammatory disorder. MEFV gene, causing FMF, encodes pyrin that is associated with the interleukin-1 (IL-1) related inflammation cascade. The aim of this study was to investigate the relationship of interleukin-1 receptor antagonist (IL-1Ra) and interleukin-4 (IL-4) polymorphisms with the risk of FMF in the Turkish population. METHODS This study included 160 patients with FMF (74 men, 86 women) and 120 healthy controls (50 men, 70 women), respectively. Genotyping of IL-1Ra rs2234663 polymorphism was evaluated by gel electrophoresis after polymerase chain reaction (PCR). The IL-4 rs79071878 polymorphism was determined by PCR-based restriction fragment length polymorphism (PCR-RFLP) analysis. The results of analyses were evaluated for statistical significance. RESULTS There was no significant difference in IL-1Ra genotype and allele distributions between FMF and the control groups (p>0.05). However, a significant association was observed between FMF patients and control groups according to IL-4 genotype distribution (p=0.016), but no association was found in the allelic frequency of IL-4 between FMF patients and the controls (p>0.05, OR: 1.131, CI 95%: 0.71-1.81). CONCLUSIONS The IL-4 rs79071878 polymorphism, was associated whereas the IL-1Ra rs2234663 polymorphism was not associated with FMF risk in the Turkish population. Larger studies with different ethnicities are needed to determine the impact of IL-1Ra and IL-4 polymorphism on the risk of developing FMF.

A Rare Cause of Pericardial Effusion: Giant Cell Arteritis

Giant cell arteritis is a granulomatous vasculitis characterized by medium or large sized vessel involvement. Although extracranial branches of the carotid artery are typically involved, involvement of aorta and its major branches can also be seen. Cardiac involvement has been encountered less frequently and pericardial effusion is rarely encountered. In this paper, a case has been presented in which pericardial effusion was determined during the examination and diagnosis was giant cell arteritis.

Association Between Vitamin K Epoxide Reductase (VKORC1) -1639G>A Polymorphism and Osteoporosis in Postmenopausal Women

Introductıon: Osteoporosis is a common disease, and several factors contribute to its development. Recently, there has been increasing evidence that vitamin K (VK) plays a critical role in maintaining bone strength. Vitamin K serves as a co-factor for the γ-carboxylation of particular proteins to convert specific glutamic acid residues to γ-carboxyglutamic acid residues. This process involves two enzymes, γ-glutamyl carboxylase and vitamin K epoxide reductase (VKORC1). The number of studies investigating the effects of VKORC1 gene mutations on bone mineral density in postmenopausal osteoporosis patients is limited. The aim of this study was to investigate the relationship between the VKORC1 -1639G>A polymorphism and osteoporosis in postmenopausal Turkish women. METHODS The study group consisted of 176 postmenopausal women with osteoporosis and 140 healthy postmenopausal women. The selection criteria for the healthy controls included non-osteoporotic bone mineral density (BMD) and similar demographic characteristics to the osteoporosis group. The genotyping of the VKORC1 -1639G>A polymorphism was conducted using the restriction fragment-length polymorphism method. RESULTS We found that the genotype frequencies of the GG, GA and AA genotypes were 25.6, 64.2 and 10.2% in the patients and 33.6, 55.8 and 10.7% in the controls, respectively. In the patient and control groups, the genotype distribution of the studied locus was found to be non-compatible with Hardy-Weinberg equilibrium. We found a nonsignificant association between the -1639G>A polymorphism in the VKORC1 gene and osteoporosis in postmenopausal Turkish women. CONCLUSION We have shown that the VKORC1 -1639G>A polymorphism is not a risk factor for postmenopausal osteoporosis.

IL-1β and IL-1Ra variant profiles in Turkish patients with diabetic peripheral neuropathy

BACKGROUND Diabetic peripheral neuropathy (DPN) is one of the most common complications of Type 2 diabetes mellitus (T2DM). This study was conducted to investigate the possible association between interleukin-1β (IL-1β) rs16944 /IL-1 receptor antagonist (IL-1Ra) VNTR variants and genetic susceptibility to DPN in a Turkish cohort. METHODS A total of 200 subjects were enrolled in this study, 98 patients with DPN and 102 cases of age and sex-matched healthy controls. Genotyping was performed for all individuals using PCR-RFLP analysis. RESULTS IL-1β rs16944 CC genotype had a 3.20-fold increased risk for DPN (p=0.0003, OR=3.20, 95% Cl:1.72-5.96). IL-1β rs16944 CT genotype was higher in healthy control than patients (p=0.004). IL-1β rs16944 C allele was higher in the patient group compared to controls while T allele was lower in patients than controls (p=0.003). IL-1Ra VNTR a1/a1 and a2/a2 genotypes were lower in DPN patients while a1/a2 genotype was higher in patients (p=0.045). The patients carrying a1/T haplotype had decreased risk of DPN than control groups (p=0.004). The patients carrying a2/a2 genotype had lower HDL level (p=0.039). The subjects carrying a2/a2 genotype had higher total cholesterol level while the subjects carrying a1/a2 genotype had lower total cholesterol (p=0.026 and p=0.037, respectively). IL-1Ra a1 allele was associated with higher HDL level (p=0.041). CONCLUSION Findings of this study indicated that the IL-1β rs16944 and IL-1Ra VNTR variants are probably to be associated with susceptibility DPN risk in a Turkish cohort.

Multidrug Resistance Among A. baumannii Isolates from Intensive Care Unit: A Four Years Retrospective Study

15 osocomial infections are related to prolonged hospitalization stays and increased mortality and morbidity.1 Among microorganisms, Acinetobacter ssp plays an important role, and in recent years its prevalence in intensive care unit (ICU) patients has risen.2,3 A. baumannii is an aerobic, Gram-negative, non-fermentative bacteria, which is the most Multidrug Resistance Among A. baumannii Isolates from Intensive Care Unit: A Four Years Retrospective Study

Single nucleotide polymorphism of adiponectin +276 G/T is associated with the susceptibility to essential hypertension in a Turkish population

ABSTRACT Background: It is well known that arterial stiffness is associated with hypertension. Recent studies have shown that adiponectin +276 G/T, ACE I/D, AGTR1 A1166C, and eNOS E298D polymorphisms are likely to be risk factors for arterial stiffness. In this study, we aimed to investigate possible associations between these single-nucleotide polymorphisms (SNPs) and essential hypertension in a Turkish population. Methods: The study population consisted of 170 patients who were diagnosed with essential hypertension and 170 sex- and age-matched controls. Genotyping of adiponectin +276 G/T, ACE I/D, AGTR1 A1166C, and eNOS E298D SNPs were performed using real-time polymerase chain reaction and commercially produced kits. Results: The percentage of the adiponectin +276 T allele carriers was significantly higher in the patients with hypertension (33%) than in the controls (25%, p < 0.011). Through multiple logistic regression analysis, the adiponectin +276 T allele carrier was found to be associated with an increased risk of hypertension (TT vs. GG and TG: odds ratio = 3.318, p = 0.014, 95% confidence interval: 1.269–8.678). The genotype distributions or allelic frequencies of ACE I/D, AGTR1 A1166C, and eNOS E298D SNPs did not significantly differ between the patients with hypertension and the controls. Conclusion: The present study demonstrated that the adiponectin +276 G/T SNP is likely to be a risk factor for essential hypertension in a Turkish population.