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Öğe A significant association between rs2295190 polymorphism of the ESR1 gene and fibromyalgia syndrome(C M B Assoc, 2022) Kaydok, Ercan; Ozmen, Esma; Sari, Ismail; Sen Cakiroglu, Gozde; Tas, Ayca; Silig, Yavuz; Hayta, EmrullahFibromyalgia syndrome (FMS) is a multifactorial disease characterized by chronic diffuse pain. Genetic factors are also involved in the etiology. However, there is not enough information on the genetic factors that play a role in the pathogenesis of FMS. This study aims to investigate the relationship between estrogen receptor 1 gene (ESRI) 594G>A (rs2228480) and 325C>G (rs2295190) polymorphisms and FMS. A total of 294 women, 146 of who were FMS patients and 148 of whom were healthy controls, were enrolled in the study. The instruments used to collect data from patients included patient follow-up forms, Visual Analog Scale (VAS), and Fibromyalgia Impact Questionnaire (FIQ). Genotyping of ESR1 594G>A and 325C>G polymorphisms in the extracted DNA samples was performed using an RT-PCR device and TaqMan hydrolysis probes. it was found that, for rs2295190 polymorphism, patients with CO and GO genotypes versus CC genotypes showed a decreased risk for FMS (OR: 0.442; 95% CI: 0.234-0.833). But there were no significant differences were found in the genotype distribution of rs2228480 polymorphism between the FMS patients and controls. The intragroup evaluation of FMS patients revealed no significant association between symptoms, pain score, FIQ score, and polymorphisms (p>0.05). We believe that there is a significant association between ESR1 rs2295190 polymorphism and FMS and that this polymorphism may be protective against FMS. However, there is a need for comprehensive studies on different populations to obtain clearer data as well as further studies to elucidate the possible mechanism of association. Copyright: (C) 2022 by the C.M.B. Association. All rights reserved.Öğe Alteration of butyrylcholinesterase level in cholelithiasis patients after laparoscopic cholecystectomy: Do butyrylcholinesterase levels affect lipid metabolism?(Bayrakol Medical Publisher, 2021) Ayan, Durmus; Bolat, Haci; Ozmen, Esma; Sari, IsmailAim: Cholelithiasis (gallbladder stone) is a disease with a high incidence worldwide. The disease is multifactorial and various factors such as gender, age, obesity and use of oral contraceptives are held responsible for the development of the disease. In addition, lipid disorder is observed in more than 50% of patients with cholelithiasis. Laparoscopic cholecystectomy (LC) is one of the most frequently used surgical methods in the treatment of cholelithiasis, and there are data indicating that lipid profile changes and metabolic syndrome (MetS) develop after the operation. In this study, we aimed to investigate whether there is a change in lipid profile and Butyrylcholinesterase (BChE) activity, which affects lipid metabolism, in cholelithiasis patients after LC. Material and Methods: In our study, 31 patients (obese and non-obese) who applied to the general surgery clinic of Nigde Omer Halisdemir University Training and Research Hospital were included. Blood samples were taken from the patients before LC and 6 months after the operation, and the lipid levels and BChE enzyme activity were examined using spectrophotometric method. Results: According to the results, it was determined that the total cholesterol (p=0.015) and LDL (p=0.010) levels significantly decreased after LC, while no significant difference was found in the other parameters examined (p>0.05). In addition, it was observed that there was no significant correlation between the lipid profile examined both before and after LC and BChE activity level. Discussion: According to the data obtained, the significant decrease in LDL and total cholesterol after LC indicates that this operation causes a positive change at least within a period of 6 months in the lipid profile of patients.Öğe Are VEGF and SCUBE1 gene expressions increased in diabetic retinopathy?(Walter De Gruyter Gmbh, 2023) Ayan, Durmus; Zor, Kuersad Ramazan; Ozmen, Esma; Bicer, Gamze Yildirim; Onder, Cagatay Emir; Sari, IsmailObjectives: In the current study, we synergistically evaluated vascular endothelial growth factor (VEGF) gene expression levels and signal peptide-CUB-EGF domain-containing protein 1 (SCUBE1) gene expression levels in diabetic patients without retinopathy, non-proliferative diabetic retinopathy (NPDR), and proliferative diabetic retinopathy (PDR).Methods: 94 blood samples from 26 healthy controls, 29 non-DR, 22 NPDR, and 17 PDR patients were collected in sterile EDTA tubes. Total RNA was obtained from these samples without waiting and then converted to cDNA. The expression levels of the VEGF and SCUBE1 genes were determined by quantitative real-time polymerase chain re-action (qPCR).Results: SCUBE1 gene expression levels were 2.15 (p=0.015), 1.75 (p=0.799), 2.37 (p=0.037) times higher, and VEGF gene expression levels were 1.71 (p=0.023), 1.75 (p=0.012), 1.85 (p=0.031) times higher in the non-DR, NPDR, and PDR groups compared to the control group, respectively. VEGF gene expression levels were significantly higher in participants with HbA1c levels >= 5.7% compared to those with < 5.7. SCUBE1 and VEGF gene expression levels were significantly higher in participants with fasting plasma glucose (FPG) levels >= 126 mg/dL than those with < 126 mg/dL.Conclusions: As a result, SCUBE1 gene expression levels are higher than VEGF gene expression levels, especially in the PDR group. Therefore, SCUBE1 may contribute to the pathology of DR just like VEGF by generating angiogenesis. However, we believe there isa need for experimental animal model studies with DR examining SCUBE1 gene expression levels in tissue samples.Öğe Changes in arginine metabolism in advanced Alzheimer?s patients: Experimental and theoretical analyses(Elsevier, 2023) Saria, Ismail; Ersan, Serpil; Ozmen, Esma; Ayan, Durmus; Ersan, Erdal; Berisha, Avni; Kayae, SavasLimited data obtained in studies conducted in recent years suggest that changes in arginine metabolism may be associated with the pathogenesis of Alzheimer's disease (AD). However, the underlying mecha-nisms of this pathway's effects on the disease are not clear and there are conflicting data. Therefore, in this study, we aimed to determine the levels of L-arginine and its important metabolites and enzymes involved in the pathway in advanced AD patients to examine the change in L-arginine metabolism as inclusively as possible.Serum and plasma samples were obtained from 51 patients diagnosed with advanced AD and 30 volunteer controls. Arginase, Ornithine Decarboxylase (ODC), Arginine Decarboxylase (ADC), and Agmati-nase levels in serum samples were determined by enzyme-linked immunosorbent assay (ELISA) and, L- arginine, Ornithine and nitric oxide (NO) levels were determined by colorimetric method. Agmatine levels were measured by high-performance liquid chromatography in the plasma samples of the study groups. Furthermore, in silico molecular docking studies were performed to get preliminary knowledge about the binding interactions of the agmatine with various targets such as AChE, butyrylcholinesterase (BuChE), BACE-1 and tau protein kinase 1 which play an important role in AD pathogenesis.Agmatine and L-arginine levels were found to be significantly lower in the patient group than in the control group. Milder but not statistically significant reductions were observed in all other param-eters we measured involved in L-arginine metabolism. Furthermore, NO levels were found to be sig-nificantly lower in men with advanced AD patients than in control men. It has been analyzed that agmatine ligand interacts effectively with the studied proteins which play an important role in AD pathogenesis; these interactions were significant and, based on the docking score, occurred in the fol-lowing order: butyrylcholinesterase (PDB id: 1P0I) > Human acetylcholinesterase > Human tau-protein kinase I.In conclusion, in advanced AD patients, the activity of the L-arginine pathway decreased in gen-eral, especially agmatine formation, and this may be due to the decrease in L-arginine levels. Therefore, arginine de novo synthesis may be decreased in advanced AD patients. Furthermore, according to the MolDock binding score, agmatine ligand has a high binding affinity for proteins involved in AD manage-ment and/or pathogenesis. Therefore, agmatine may play a role in the pathogenesis of AD by inhibit-ing the activity of these proteins. However, additional comprehensive studies are needed to clarify these thoughts.(c) 2023 Elsevier B.V. All rights reserved.Öğe Examination of the relationship between variants in the gene region encoding soluble epoxy hydrolase enzyme hydrolytic activity and type 2 diabetes(Bayrakol Medical Publisher, 2024) Ozmen, Esma; Ayan, Durmus; Onder, Cagatay Emir; Akin, Dilara Fatma; Kose, Burcu; Sari, Ismail; Yazici, CevatAim: Epoxyeicosanoids function as signal mediators in critical biological processes such as platelet aggregation, vasodilation, and anti -inflammation. With all these properties, Epoxyeicosanoids have been associated with many diseases. Metabolism of epoxyeicosanoids is carried out by soluble epoxide hydrolase enzymes, and as a result dihydroxyeicosatrienoic acids, which is a less active form than epoxyeicosanoids, are formed. In our study, SNP/mutation analysis was performed in the gene region responsible for the hydrolase activity of EPHX2, which encodes the soluble epoxide hydrolase enzyme. Material and Methods: The study consisted of two groups: a healthy group with 30 individuals and a T2DM patient group with 40 individuals. SNP/mutation analysis in the gene region responsible for the hydrolase activity of EPHX2 in both groups was performed by Sanger sequencing using appropriate primers. Result: A total of 12 mutations were detected in both groups as a result of Sanger sequencing. Two of the 12 detected mutations were missense mutations (p.Asn359Thr and p.Ser412Arg). It was determined that the pathogenic scores of these mutations were close to 1 for Poly-Phen2 and 0-100 for SNAP. In addition, two (c.1058+165C>T and c.1058+146G>A) SNPs were detected in the intron we observed in the T2DM group, which has not been detected and defined before in our study. Discussion: We believe that the mutations detected in our study, especially those that cause amino acid changes, may cause T2DM susceptibility in healthy individuals and progression of the disease pathogenesis in the T2DM group. We think that the detection of c.1058+165C>T and c.1058+146G>A mutations for the first time in our study will guide the next studies.Öğe Expression levels of BAP1, OGT, and YY1 genes in patients with eyelid tumors(Walter De Gruyter Gmbh, 2021) Tas, Ayca; Gumus, Erkan; Ozmen, Esma; Erdogan, Haydar; Silig, YavuzObjectives The aim of this study was to investigate BAP1, OGT and YY1 genes and protein levels in 12 samples (8 males, 4 females) of eyelid tumor tissue with basal cell carcinoma (BCC) and 12 normal control subjects (8 males, 4 females). Methods The expression levels of these genes were determined with RT-PCR and the protein levels and expression using ELISA and IHC methods, respectively. Results In RT-PCR analysis, statistically significant upregulated expression was determined of 1.84-fold of BAP1, 2.85-fold of OGT and 3.06-fold of YY1 genes (p < 0.05). In the patient group, compared to the control group, there was a similar statistically significant strong correlation between the proteins (BAP1 and YY1; r = 0.850, BAP1 and OGT; r = 0.811, OGT and YY1; r = 0.755) (p < 0.05). In the ELISA and IHC analysis methods, a significant increase in BAP1 and YY1 protein expression levels was observed compared to the control group (p < 0.05). Conclusions The study results demonstrated that BAP1 and YY1 genes and protein levels were upregulated in eyelid tumor tissue with BCC.Öğe Potassium Ion Channel Protein (KCNH) Levels in Patients with Fibromyalgia Syndrome(C M B Assoc, 2021) Tas, Ayca; Hayta, Emrullah; Karadag, Ahmet; Zontul, Cemile; Ozmen, Esma; Aydin, Suleyman; Silig, YavuzAlthough there is not yet full clarity of the pathogenesis of fibromyalgia syndrome (FM), central sensitization is considered to be responsible. The purpose of this study was to measure the plasma levels of potassium ion channel proteins (human KCNH2, KCNH6 and KCNH7) in FM patients and healthy control subjects. The study sample includes 76 newly diagnosed FM patients and 79 healthy individuals. Venous blood samples were taken to measure the plasma levels of KCNH2, KCNH6 and KCNH7. Pain severity in FM patients was assessed using a visual analog scale (VAS). Bioinformatics analysis was performed using the STRING v 11 Protein interaction tool. Age, gender and body mass index were seen to be similar in both groups. In comparisons between FM and control groups, KCNH2 plasma levels was found to be significantly lower in the FM group. No significant correlation was found between plasma levels of KCNH2, KCNH6 and KCNH7 protein levels and VAS score of patients with FM. The KCNH2 protein had a high homology score with 9 proteins. The plasma levels of KCNH2 FM patients were found to be lower than those of the healthy control subjects, no difference was determined in respect of the plasma levels of KCNH6 and KCNH7. These results may be of use in guiding future studies on the pathogenesis of FM. Copyright: (c) 2021 by the C.M.B. Association. All rights reserved.Öğe The Effect of Sex-Specific Genetic Factors on the Host Immune Response to COVID-19: A Pilot Study(Erciyes Univ Sch Medicine, 2022) Bali, Dilara Fatma Akin; Gulen, Tugba Arslan; Ozmen, Esma; Yuce, Zeynep Ture; Yildiz, Orhan; Turunc, Tuba; Kayabas, UnerObjective: The aim of this study was to investigate the impact of sex-specific genetic factors in the pathogenesis and prog-nosis of severe acute respiratory syndrome coronavirus 2 (SARS-CoV2)-induced macrophage activation syndrome (MAS), independent of age and comorbidity presence.Materials and Methods: Patients aged 18-50 years who had been diagnosed with coronavirus 2019 (COVID-19), the disease caused by the SARS-CoV2 virus, were enrolled in a prospective, case-control, multi-center study. Genetic alterations and messenger RNA (m-RNA) expression levels of the TLR7, TLR8, ACE2, CD40L, CXCR3, and TASL genes were determined using DNA sequencing analysis, and gene expression was determined using quantitative reverse transcriptase polymerase chain reaction testing. PolyPhen-2 (Polymorphism Phenotyping v2; Adzhubei et al., 2010) and SNAP2 (Rostlab, Munich, Germany) genetic analysis tools were used to define the pathogenic effects of detected mutations by sequencing the selected genes in hotspot regions.Results: The study group consisted of 80 patients diagnosed with COVID-19 and was divided into groups based on sex and MAS status. Twenty-nine mutations were detected in 6 genes. Among the alterations, 15 were identified in this study for the first time and 9 were pathogenic. Pathogenic missense mutations in the TLR7, TLR8, ACE2, and TASL genes were detected in the MAS (+) group. In males, decreased TLR7, TLR8, and CXCR3 expression was statistically significant in the MAS (+) group (p<0.050). CXCR3 expression was lower in the female and male MAS (+) groups compared with the MAS (-) groups (p<0.050).Conclusion: In the absence of major risk factors for COVID-19, the TLR7/8, ACE2, and CXCR3 variants and decreased m-RNA expression levels associated with genetic susceptibility may be independent prognostic risk factors for COVID-19.