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Öğe Association between FokI, ApaI and TaqI RFLP polymorphisms in VDR gene and Hashimoto's thyroiditis: preliminary data from female patients in Serbia(Wiley, 2015) Djurovic, J.; Stojkovic, O.; Ozdemir, O.; Sılan, Fatma; Akurut, C.; Todorovic, J.; Savic, K.Hashimoto's thyroiditis (HT) is the most prevalent autoimmune thyroid disorder caused by an interaction between genes and environmental triggers. Intrathyroid lymphocytic infiltration may lead to progressive destruction of thyroid tissue and consequently to hypothyroidism. Many studies in different populations have shown association between vitamin D receptor (VDR) gene polymorphisms and various autoimmune diseases, including HT. The study included 44 female patients (mean age +/- standard deviation 38 +/- 5.4) with Hashimoto's thyroiditis and 32 healthy age-matched, sex-matched and geographically matched controls without personal history of autoimmune and endocrine diseases. Genomic DNA was isolated from peripheral blood-EDTA, and the target VDR gene was genotyped by PCR-RFLP technique after VDR-FokI (rs2228570), VDR-ApaI (rs7975232) and VDR-TaqI (rs731236) restriction enzymes digestion. We used spss 20.0 integrated software for data analysis and found a significant difference in the genotype distribution of VDR-FokI polymorphism between patients with HT and controls (P=0.009). For ApaI and TaqI, we observed a higher frequency of variant allele in patients with HT, which was not significantly different compared to control women (P>0.05). The current first and preliminary results identified the association between VDR-FokI gene polymorphism and Hashimoto's thyroiditis in Serbian population. Results need to be supported by further investigations that define haplotype patterns for VDR gene polymorphisms in a larger group of HT patients of both sexes.Öğe DOUBLE TRANSLOCATION: AN INTERESTING FAMILY HISTORY(Macedonian Acad Sciences Arts, 2013) Uysal, Ahmet; Uludağ, A.; Sılan, Fatma; Ercelen, N.; Zafer, C.; Ozdemir, O.Double balanced translocations are particularly rare and the risk of a fetus with an unbalanced chromosomal anomaly is greater than for single translocation carriers. In this present case, we describe an interesting family history which included three generations. A couple, married for 4 years, was referred to the genetic clinic due to infertility and family chromosome anomalies. A GTG-band chromosome analysis indicated that the male partner's karyotype was 45, XY, t(3; 18)(q11; ptel)t(13; 14)(q10; q10). The same double balanced translocation was found in two others family members.Öğe EFFECT OF WET GRINDING AND MECHANICAL DISPERSION ON THE SINTERING PROPERTIES OF KIZILDAM HALLOYSITE ORE(Baski, 2022) Durgut, E.; Terzi, M.; Unver, I. Kursun; Cinar, M.; Ozdemir, O.Kaolin type clay ores are generally ground in mills in the ceramic industry and are included in the body composition. During grinding, hard, coarse-sized impurities are ground into finer size, got involved the body composition and increased defects that cause loss of quality. In this study, the Kızıldam halloyite ore was dispersed by mechanical mixing in the presence of sodium hegzametaphosphate, than it was eliminated from the 212 ?m sieve, allowing the separation of hard minerals containing iron-bearing minerals from the relatively soft kaolin group clay minerals. -212 µm sized material that was gained from mechanical mixing and raw halloysite that was ground in the wet media were sintered in the wall tile (1145°C, 49 min.) and porcelain body (1205°C, 63 min.) sintering conditions, then the sintered materials were compared in terms of shrinkage, water absorption and color values. The L (whiteness) values of the materials that were gained with wet grinding were obtained as 64.55 and 58.14 in wall tile and porcelain sintering conditions respectively, while 73.07 and 70.76 were found for mechanical distribution. It was observed that the empurity removal from the halloysite ore by mechanical mixing increased the whiteness (L) value of the sintered product. © IMCET 2022. All rights reserved.Öğe Meirer-gorlin syndrome: A primordial dwarfic rare case with growth and mental retardation in normal karyotype(Editions Medecine et Hygiene, 2016) Paksoy, B.; Sılan, Fatma; Yildiz, O.; Ozdemir, O.; Tas, Z.T.Meirer-Gorlin syndrome: A primordial dwarfic rare case with growth and mental retardation in normal karyotype: The Meier-Gorlin syndrome (MGS) / ear, patella, short stature syndrome (MIM 224690) is an autosomal recessive inherited disorder. Point mutations of ORC1, ORC4, ORC6, CDT1, and CDC6 genes that play crucial role in the origin recognition complex for DNA replication were reported in MGS. Here, we report a 9 years old boy with some clinical findings diagnosed as MGS. This case was the 4th child of a first degree relative couple and born with 3 kg weight in the 37th week of gestation (at the birth time mother was 29 and father was 39 years old). The case showed short stature, failure to thrive, microcephaly, micrognathia, mandibular hypoplasia, bilateral microtia, full lips, long eyelashes, mental retardation and hypoplastic patellas. He was evaluated as a normal chromosomal structure after lymphocyte cell culture and GTG-banding karyotype analysis (46,XY). The genetic counseling was given and he was followed for growth and mental retardation.Öğe MEIRER-GORLIN SYNDROME: A PRIMORDIAL DWARFIC RARE CASE WITH GROWTH AND MENTAL RETARDATION IN NORMAL KARYOTYPE(Medecine Et Hygiene, 2016) Paksoy, B.; Sılan, Fatma; Yildiz, O.; Ozdemir, O.; Tas, Z. T.Meirer-Gorlin syndrome: a primordial dwarfic rare case with growth and mental retardation in normal karyotype: The Meier-Gorlin syndrome (MGS) / ear, patella, short stature syndrome (MIM 224690) is an autosomal recessive inherited disorder. Point mutations of ORC1, ORC4, ORC6, CDT1, and CDC6 genes that play crucial role in the origin recognition complex for DNA replication were reported in MGS. Here, we report a 9 years old boy with some clinical findings diagnosed as MGS. This case was the 4th child of a first degree relative couple and born with 3 kg weight in the 37th week of gestation (at the birth time mother was 29 and father was 39 years old). The case showed short stature, failure to thrive, microcephaly, micrognathia, mandibular hypoplasia, bilateral microtia, full lips, long eyelashes, mental retardation and hypoplastic patellas. He was evaluated as a normal chromosomal structure after lymphocyte cell culture and GTG-banding karyotype analysis (46,XY). The genetic counseling was given and he was followed for growth and mental retardation.Öğe Possible association between germline methylenetetrahydrofolate reductase gene polymorphisms and psoriasis risk in a Turkish population(Wiley-Blackwell, 2017) Kilic, S.; Ozdemir, O.; Sılan, Fatma; Isik, S.; Yildiz, O.; Karaagacli, D.; Sılan, CoşkunBackground. Psoriasis is a common chronic inflammatory skin disease caused by genetic and epigenetic factors. There are conflicting results in the literature about the association between psoriasis and the methylenetetrahydrofolate reductase gene (MTHFR), ranging from strong linkage to no association. Aim. To investigate the association between the germline MTHFR polymorphisms C677T and A1298C with psoriasis risk in a Turkish population. Methods. The study enrolled 84 patients with psoriasis and 212 healthy controls (HCs) without any history of psoriasis. DNA was extracted from peripheral blood samples of patients and HCs, and real-time PCR was used for genotyping. Results were compared by Pearson chi(2) test and multiple logistic regression models. Results. The frequency of both the MTHFR 677TT and A1298C (homozygous) genotypes was statistically significantly different from HCs. Point mutations were detected in all patients with early-onset psoriasis (before the age of 20 years). The T allele of MTHFR 677 and the C allele of MTHFR 1298 increased psoriasis risk by 12.4-and 17.0-fold, respectively, in patients compared with HCs. Conclusion. A possible association was detected betweengermline MTHFR 677 C>T and 1298 A>C genotypes and psoriasis risk in a Turkish population. These results need to be confirmed in further studies with larger sample sizes.Öğe The prevalence of Familial Mediterranean Fever common gene mutations in patients with simple febrile seizures(Verduci Publisher, 2014) Ozen, F.; Kocak, N.; Kelekci, S.; Yildirim, I. H.; Hacimuto, G.; Ozdemir, O.BACKGROUND: Febrile seizures (FS) represent the most common form of childhood seizures that occurs in 2-5 % of the children younger than 6 years. There have been many recent reports on the molecular genetic and pathogenesis of FC. It has been recognized that there is significant genetic component for susceptibility of FC with different reported mutation. FEB1, FEB2, FEB4, SCNA1, SCNA2, GABRG2 and IL-1 beta are related to with febrile convulsions (FCs). Interleukin 1 beta (IL-1 beta) is a cytokine that contributes to febrile inflammatory responses. There are conflicting results on increasing this cytokine in serum during FC. AIM: The determine the association between mutations of MEFV gene product pyrine and febrile seizures. PATIENTS AND METHODS: The study was carried out on 104 children that were diagnosed as FS and 96 healthy children. MEFV gene mutations were detected and analyzed with Pyro-Mark Q24. PCR was performed using the Pyro-Mark PCR Kit and pyrosequencing reaction was conducted on instrument instructions. RESULTS: M694V is the most common mutation in our patient group and we found a significant association between MEFV gene mutations and FSs. Of 104 patients, 68 were heterozygotes for any mutation and 10 patients were compound. 17.7% of control group were heterozygotes for any studied mutation. Statistical analyses showed that there was strongly significant statistical difference between results obtained from FS and control group (X = 46.20, p < 0.0001). CONCLUSIONS: MEFV gene mutations, especially M694V mutation, are positively associated with FSs.Öğe The relationship between psoriasis and tnf-? g308a and g238a polymorphisms(Wiley-Blackwell, 2013) Ogretmen, Z.; Sılan, Fatma; Hiz, M. M.; Yalcintepe, S. Atik; Kirilmaz, B.; Ozdemir, O.[Anstract Not Available]Öğe Vitamin D Receptor Gene BSMI, FOKI, APAI, and TAQI Polymorphisms and the Risk of Atopic Dermatitis(Esmon Publicidad S A, Dept Allergy & Clin Immunol, Clin Univ Navarra, 2016) Kilic, S.; Sılan, Fatma; Hiz, M. M.; Isik, S.; Ogretmen, Z.; Ozdemir, O.Background and Objective: The association between vitamin D receptor (VDR) gene polymorphisms and the risk of skin diseases has been widely studied, yet there is only one study on atopic dermatitis. In this study, we aimed to investigate the association between 4 VDR polymorphisms and atopic dermatitis. Patients and Methods: This cross-sectional case control study was performed between March 2013 and April 2014 at the University Hospital in canakkale, Turkey. Peripheral blood samples were collected in EDTA tubes. DNA extraction was performed using the spin column procedure. The VDR polymorphisms Fokl (rs2228570), Bsml (rs1544410), Apal (rs7975232), and Taql (rs731236) were determined by polymerase chain reaction-restriction fragment length polymorphism analysis in 42 atopic dermatitis patients and 96 healthy individuals from a Turkish population. Results: The VDR rs1544410 polymorphism increased the risk of atopic dermatitis in our Turkish population [OR, 12.2; 95%CI, 0.44-336; P=.05]. The Foql, Taql, and Apal polymorphisms were not significantly associated with atopic dermatitis susceptibility. Conclusion: The VDR Fok1, Taql, and Apal gene polymorphisms were not associated with the risk of atopic dermatitis in the Turkish population but the Bsml polymorphism was found to increase risk.
