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Öğe A Negative Correlation Between MEFV Mutations and Allergic Diseases(Galenos Yayincilik, 2022) Yildirim, Malik Ejder; Kurtulgan, Hande Kucuk; Kilicgun, Hasan; Duksal, FatmaAim: Atopy is associated with a genetic predisposition to develop allergic diseases such as allergic rhinitis, asthma, and atopic dermatitis. In this study, we aimed to compare the prevalence of Familial Mediterranean Fever (FMF) mutations in asthma and allergic rhinitis patients with controls in the pediatric population and to analyse the positive or negative effect of MEFV mutations in the development of atopy. Materials and Methods: For the detection of FMF mutations, 88 pediatric patients (51 allergic asthma, 17 allergic rhinitis and 20 both asthma and allergic rhinitis cases) and 92 controls were included in our study. Total genomic DNA was extracted from peripheral blood samples using DNA isolation kit. Then, the patient and control groups were screened for MEFV gene mutations by Reverse Hybridization procedure (Strip Assay). Results: There were 9 carriers (heterozygous mutation) in the patient group. The control group had 21 carriers and 1 individual with a compound heterozygous mutation. It was not detected any homozygous mutation in both two groups. The number of individuals with mutation was statistically higher in the control group than in the patients of asthma and allergic rhinitis (p=0.015) and the mutation number (allelic frequency) in the control group was also higher than in the patients (p=0.014). Conclusion: We suggest that FMF mutations are less frequent in allergic rhinitis and asthma cases than in the normal population. Asthma and allergic rhinitis may be more common in individuals without FMF mutation. It can be thought that MEFV gene mutations are effective to prevent allergic reactions on the basis of T helper 2 (Th2) suppression.Öğe The Association of Plasminogen Activator Inhibitor Type 1 (PAI-1) Level and PAI-1 4G/5G Gene Polymorphism with the Formation and the Grade of Endometrial Cancer(SPRINGER/PLENUM PUBLISHERS, 2017) Yildirim, Malik Ejder; Karakus, Savas; Kurtulgan, Hande Kucuk; Kilicgun, Hasan; Ersan, Serpil; Bakir, SevtapPlasminogen activator inhibitor type 1 (PAI-1) is a serine protease inhibitor (Serpine 1), and it inhibits both tissue plasminogen activator and urokinase plasminogen activator which are important in fibrinolysis. We aimed to find whether there is a possible association between PAI-1 level, PAI-1 4G/5G polymorphism, and endometrial cancer. PAI-1 levels in peripheral blood were determined in 82 patients with endometrial carcinoma and 76 female healthy controls using an enzyme-linked immunoassay (ELISA). Then, the genomic DNA was extracted and screened by reverse hybridization procedure (Strip assay) to detect PAI 1 4G/5G polymorphism. The levels of PAI-1 in the patients were higher statistically in comparison to controls (P < 0.001). The distribution of PAI-1 4G/5G polymorphism was quite different between patients and controls (P = 0.008), and 4G allelic frequency was significantly higher in the patients of endometrial cancer than in controls (P = 0.026). We found significant difference between Grade 1 and Grade 2+3 patients in terms of the PAI-1 levels (P = 0.047). There was no association between PAI-1 4G/5G polymorphism and the grades of endometrial cancer (P = 0.993). Our data suggest that the level of PAI-1 and PAI-1 4G/5G gene polymorphism are effective in the formation of endometrial cancer. PAI-1 levels are also associated with the grades of endometrial cancer.Öğe A case of weill-marchesani syndrome with a novel mutation and vitamin d deficiency(DERMAN MEDICAL PUBL, 2018) Yildirim, Malik Ejder; Vural, Ayse; Kurtulgan, Hande Kucuk; Kilicgun, Hasan; Baser, BurakWeill-Marchesani syndrome is an inherited connective tissue disorder. It is characterized by various ocular abnormalities and some skeletal problems. It is rarely seen in the world, but the clinical complications are significant and may require some interventions such as eye surgery, physical therapy or orthopedic procedures. Here we report on an eleven year old female with glaucoma, ectopia lentis, microspherophakia, brachydactyly and vitamin D deficiency from Sivas, Turkey. She was suffering from Weill-Marchesani syndrome with ADAMTS10 mutation.Öğe A possible interaction o TIMP-1 and TSP-1 with familial mediterranean fever(DERMAN MEDICAL PUBL, 2019) Yildirim, Malik Ejder; Kurtulgan, Hande Kucuk; Kilicgun, Hasan; Bakir, Deniz; Ersan, SepilAim: Matrix metalloproteinases (MMPs) may influence many biological and pathological processes including inflammatory responses. Thrombospondins (TSP) are a glycoprotein group of the extracellular matrix. In this study, we aimed to investigate a possible association of TIMP-1 (an inhibitor of metalloproteinases) and TSP-1 (an adhesive protein involved in cell-matrix interactions) with familial Mediterranean fever. Material and Method: Thirty FMF patients who had compound heterozygous or homozygous MEFV mutations and thirty healthy controls were included in this study. The patients were selected after screening by reverse hybridization procedure. TIMP-1 and TSP-1 levels of the patients and controls were measured by ELIZA. Results: TIMP-1 and TSP-1 levels of the patients who had homozygous or compound heterozygous MEFV mutation were compared with 30 healthy controls. The levels of TIMP-1 in the patients were statistically higher than those in the control group (p < 0.001). There was no significant difference between the patients and controls in terms of TSP-1 levels (p = 0.84). Discussion: IL-1 beta has an important role in FMF disease and it may stimulate expression of TIMP-1. TIMP-1 levels are increased in FMF patients on the basis of inflammation and higher TIMP-1 levels in patients may be associated with the self-limited nature of FMF. TSP-1 level can be modulated by proinflammatory cytokines but there was no any significant difference between TSP-1 levels of FMF patients and the control group in our study. It can be thought that there is no interaction between TSP-1 and the pathogenesis of FMF.Öğe Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia(K Faisal Spec Hosp Res Centre, 2019) Yildirim, Malik Ejder; Kurtulgan, Hande Kucuk; Ozdemir, Ozturk; Kilicgun, Hasan; Aydemir, Didem S.; Baser, Burak; Sezgin, IlhanBACKGROUND: Familial Mediterranean fever (FMF), an autosomal recessive, autoinflammatory disease that is common in Arabs, Jews, Armenians and Turks, is caused by mutations in the MEFV gene, which encodes a protein called pyrin. The disease is characterised by recurrent fever, peritonitis, pleuritis, abdominal pain and arthralgia. OBJECTIVE: Determine the distributions of MEFV mutations and their relationship with clinical manifestations. DESIGN: Retrospective, descriptive. SETTING: Turkish community. SUBJECTS AND METHODS: The study included patients with complaints related to FMF who were admitted to the research hospital of Cumhuriyet University between 2005 and 2017. FMF was diagnosed by physical examination using the Tel-Hashomer criteria. MEFV mutations were detected by reverse hybridization strip assay and pyrosequencing. MAIN OUTCOME MEASURE: The prevalence of specific MEFV gene mutations in a large cohort of Middle Anatolia. SAMPLE SIZE: 10033 patients admitted, 1223 with confirmed mutations. RESULTS: Of 1684 patients diagnosed by Tel-Hashomer criteria, mutation screening confirmed that 1223 patients (72.6%) had FMF. Male/female ratio of the FMF patients was 1.3:1. One or more FMF mutations were found in 4497 patients (44.8%). 3262 had heterozygous or carrier mutations, 821 had compound heterozygous mutation, 381 had homozygous mutations, and 21 had triple mutations. Sixty-six percent had a family history of the disease and 13.7% of the patients had parental consanguinity. Main symptoms found in the patients were abdominal pain (85.2%), fever (84%), chest pain (30.2%), arthralgia (28.6%), rash or erysipelas-like erythema (8.2%). The most common mutation in this population was M694V (39%) of 5753 alleles. CONCLUSION: M694V was the most frequent mutation in our population (Middle Anatolia, Turkey) and cause severe forms of the disease. Patients with El 480, V726A and R761 H mutations may have milder FMF symptoms. There was a high rate of carriers in our study group.Öğe Role of MTHFR gene polymorphisms, serum tissue inhibitor of metalloproteinases-1, thymus chemokine-1 and thrombospondin-1 in endometrial cancer(E-CENTURY PUBLISHING CORP, 2016) Yildirim, Malik Ejder; Kilicgun, Hasan; Kurtulgan, Hande Kucuk; Karakus, Savas; Ersan, Serpil; Bakir, Sevtap; Sezgin, IlhanThe aim of this study was to evaluate the relationship between the MTHFR gene variants (677 C -> T and 1298 A -> C), serum tissue metalloproteinases inhibitor (TIMP-1), thrombospondin-1 (TSP-1), thymus chemokine-1 (TCK-1) levels and endometrial cancer. Sixty women were chosen from endometrial cancer patients and fifty-six women without any systemic disease were included as the control group. MTHFR C677T and A1298C MTHFR polymorphisms and their allele frequencies were evaluated with strip assay (Reverse hybridization method). Serum tissue inhibitor of metalloproteinases-1, thymus chemokine-1, and thrombospondin-1 levels were measured with the enzyme-linked immunosorbent assay (ELISA). Genotypic distribution and allelic frequencies of MTHFR C677T polymorphism were not associated with endometrial cancer (P>0.05). But, genotypic distribution and allelic frequencies of MTHFR A1298C polymorphism were strongly associated with endometrial cancer (P = 0.047 and P = 0.024). On the other hand, tissue inhibitor of metalloproteinases-1, thrombospondin-1, and thymus chemokine-1 levels were strongly associated with endometrial cancer (P = 0.001, P = 0.02, and P = 0.001 respectively). These results indicate that genotypic distribution and allelic frequencies of MTHFR A1298C polymorphism, tissue inhibitor of metalloproteinases-1, thrombospondin-1 and thymus chemokine-1 may be the prognostic markers in endometrial carcinoma.Öğe Serum levels of polyamine synthesis enzymes increase in diabetic patients with breast cancer(BIOSCIENTIFICA LTD, 2017) Celik, V. Kenan; Kapancik, Sercan; Kacan, Turgut; Kacan, Selen Baloglu; Kapancik, Serkan; Kilicgun, HasanBackground: In this study, it was aimed to investigate the relationship between diabetes and breast cancer and the detection of enzymes and ornithine levels in polyamine synthesis pathway in diabetes, breast cancer and diabetic breast cancer patients. Methods: Ornithine, arginine decarboxylase, ornithine decarboxylase and agmatinase levels have been measured in serum of all groups. Ornithine levels were measured spectrophotometrically. Arginine decarboxylase, ornithine decarboxylase and agmatinase levels were determined by ELISA kits. Results: Except for the diabetic group, the levels of enzymes in the polyamine synthesis pathway were increased in all and statistically significant (P < 0.05). The increase in the levels of agmatinase was very important among the enzymes (P < 0.001). Conclusions: Decreased levels of polyamine synthase enzymes in diabetes mellitus were found to be increased patients with breast cancer. Whether and how diabetes-based breast cancer development relates to increase activity of enzymes responsible for polyamine synthesis requires further mechanistic and prospective monitoring studies in larger patient cohorts.
