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Öğe The expression of steroidogenic genes in ovine corpus luteum during early pregnancy(Selçuk Üniversitesi, 2021) Koçak, Nadir; Hitit, Mustafa; Köse, Mehmet; Bülbül, Bülent; Atlı, Mehmet OsmanAim: The goal of this study was to investigate the expression of steroidogenic genes in ovine corpus luteum during early pregnancy Materials and Methods: The animal model was designed as pregnancy; ewes were divided into three sub-groups, pregnancy 12th day: P12, pregnancy 16th day: P16, pregnancy 22th day: P22, and cyclic day 16 (C16). The expression of steroidogenic genes (steroidogenic acute regulatory protein; StAR, cytochrome P450 side-chain cleavage; P450sscc, and 3b-hydroxysteroid dehydrogenase/delta5 delta4-isomerase; 3?HSD) was evaluated using qPCR, and mRNA localization of StAR was detected on P16 against C16 through in-situ hybridization. Results: The expression of StAR mRNA was higher on day P22 and P16 compared to P12 (p<0.05), while it was at a steady-state level on day P22 vs P16 (p>0,05). mRNA expression of P450scc was greater on day P22 and P16 than day P12 (p<0.05), however on day P22 vs P16, it was at a steady-state level (p>0,05). Also, mRNA expression of 3?HSD had a similar trend; it was higher on day P22 and P16 compared to P12 (p<0.05), while it was at a steady-state level on day P22 vs P16 (p>0,05). In in-situ hybridization, we did not detect StAR mRNA on cyclic day 16 (C16) while abundantly expressed in luteal cells in P16. Conclusion: The mRNA expression of steroidogenic genes may appear to play a critical role during early pregnancy in ewes. Accordingly, it can be suggested that the steroidogenic pathway in the corpus luteum of ewe may transcriptionally regulate progesterone synthesis required for maintenance of early pregnancy.Öğe Bir keçide hermafroditizm olgusu: Klinik ve genetik yaklaşım(Selçuk Üniversitesi Veterinerlik Fakültesi, 2014) Özel, Çağlayan; Şen, Gonca; Hitit, Mustafa; Koçak, Nadir; Güzeloğlu, Aydın; Semacan, Ahmet; Kurar, ErcanBu vaka takdiminde, 2010 yılında Selçuk Üniversitesi, Veteriner Fakültesi, Doğum ve Jinekoloji Kliniğine getirilen ve hermafroditizm olgusu saptanan Maltız melezi bir keçinin klinik muayenesi ile sitogenetik ve moleküler genetik analizleri ger- çekleştirildi. Anamnezde keçinin tek olarak doğduğu, klinik muayenede boynuzsuz, klitorisin 1.9x0.9 cm büyüklüğünde, vajinanın normalden daha kısa olduğu gözlendi. Palpasyon ve ultrasonografik muayenede inguinal bölgede, deri altında sağ (4.88 cm) ve sol (2.87 cm) testis tespit edildi. Meme ve meme başları normal konumunda ve büyüklükte belirlendi. Deri altı rüdimenter penis varlığı tespit edildi, ancak scrotum ve açık prepisyum gözlenmedi. Karyotip analizi için periferik kandan hazırlanan kromozom preparatları GTG bantlama tekniği ile boyanmış ve image analyzer programı ile uygun metafazlar belirlenerek analiz edildi. Kan örneğinden DNA izolasyonu geçekleştirildi, sex-determining region Y (SRY) ve amelogenin gen bölgeleri pozitif ve negatif kontroller kullanılarak polimeraz zincir reaksiyonu (PZR) ile yükseltgendi. Karyotip analizinde metafaz plağı 60,XY olarak tespit edildi. PZR analizlerinde SRY lokusu negatif, amelogenin lokusunda ise yalnızca AMX alleli tespit edildi. Keçilerde yaygın olarak gözlenen hermafroditizm vakalarının şekillenmesinde farklı mekanizmalar bildirilmektedir. Hermafroditizm vakalarının karyotip ve moleküler genetik analizler ile detaylı incelenmesi ve boynuzsuz keçilerin damızlıktan çıkarılması tavsiye edilmektedir.Öğe Treacher collins syndrome with a novel deletion in the tcof1 gene(ERCIYES UNIV SCH MEDICINE, 2019) Cavdartepe, Busra Eser; Kocak, Nadir; Yasa, Nafiz; Cora, TulinTreacher Collins syndrome (TCS) is a rare autosomal dominant congenital disorder characterized by various craniofacial malformations. The estimated incidence is 1 in 50000 live births. Bilaterally symmetric anomalies of the structure are present within the first and second branchial arches. Characteristic facial findings includes bilateral hypoplasia of the malar bones and mandible. This syndrome most commonly results from mutations in the TCOF1 gene. Here we present a five-year-old female patient with syndromic appearance and hearing loss. The patient had various facial dysmorphic features and malformed bilateral pinnae and left ear microtia. According to the clinical features, we suspected TCS and sequence analysis of TCOF1 gene was performed. A heterozygous new mutation c. 1722_1731delCATCCTCCAG in exon 12 of the TCOF1 gene was detected. It has been determined that this mutation is pathogenic according to the in silico prediction tools. The current study further expands the TCOF1 mutation spectrum.Öğe The relationship between KRAS LCS6 polymorphism and endometrium cancer(TAYLOR & FRANCIS INC, 2019) Cintesun, Feyza Nur Incesu; Secilmis Kerimoglu, Ozlem; Cintesun, Ersin; Nergiz, Suleyman; Acar, Hasan; Çelik, ÇetinThe aim of this study was to investigate the relationship between KRAS LCS6 mutation and endometrial cancer (EC). The study included 105 patients who had hysterectomy for benign reasons and 99 EC patients. The patients with Type 1 EC were classified according to histological properties, cancer stage, grade, tumour dimension, myometrial invasion (MMI), lymphovascular invasion (LVI), cytology, and number of positive lymph nodes. KRAS LCS6 mutation was examined in blood samples taken from all patients in both groups. No statistically significant difference was determined between the EC patients and the control group in demographic features. Weight and the Body Mass Index (BMI) values were higher in EC group (p < .001). While the incidence of this polymorphism is 5.8% throughout the world, the polymorphism rate was found to be 16.2% in the EC group and 12.4% in the control group, with no statistically significant difference determined (p > .05). Despite the higher rate of LCS6 polymorphism incidence in EC patients in this study conducted on a relatively large sample, there was not found to be a statistically significant difference in comparison with the control group. In addition, the presence of LCS6 polymorphism was not determined to have an effect on EC histopathological characteristics.Impact statement What is already known on this subject? Endometrial cancer (EC) is a genital system cancer which is one of the most widespread gynecological cancers seen in the USA and other developed countries, In EC, the most frequently seen gene mutations are PTEN tumour suppressor gene, KRAS, beta 1 catenin, BCL-2, CTNNB and P53 mutations. KRAS LCS6(let-7 miRNA binding region polymorphism) polymorphism has a worldwide incidence of 5.8% (Chin et al. 2008).There are studies shown that KRAS LCS6 polymorphism has an effect on developing EC (Lee et al. 2014), ovarian cancer(Ratner et al. 2010)and endometriosis in women (Grechukhina et al. 2012). What do the results of this study add? In our study, LCS6 located on KRAS 3'-UTR was found at the rate of 16.2% in Type 1 EC patients. This increase is noticeable when it is considered that the incidence of this polymorphism is 5.8% in the general population. The results of the current study supports the preliminary findings of Lee et al.Öğe Partial trisomy 15q and partial monosomy 17q in a boy with various dysmorphic findings(KOWSAR CORP, 2019) Çavdartepe, Büşra Eser.; Koçak, Nadir.; Çora, Tülin.[Abstract not Available]Öğe Investigation of Human Papillomavirus (HPV) and Epstein-Barr Virus (EBV) in antrochoanal polyps(W B SAUNDERS CO-ELSEVIER INC, 2019) Yılmaz, Esra; Alataş, Necat; Uçar, Fahri; Çora, Tülin; Buruk, Kurtuluş; Ünlü, YaşarObjectives/hypotheses: This study aimed to investigate the presence of HPV (HPV types 11 and 16) and EBV in antrochoanal polyps and to contribute to the current literature in this regard. Study design: A case-control study. Methods: A total of 100 patients (including 43 patients undergoing surgery for antrochoanal polyp, 27 patients undergoing surgery for nasal polyp, and 30 patients undergoing surgery for hypertrophic inferior turbinate) were included in this study. DNA was isolated from formalin-fixed, paraffin-embedded samples with the aid of the Bioneer's AccuPrep Genomic DNA Extraction Kit. In the obtained genomic DNAs, while the detection of HPV DNA was performed using the nested-PCR method, the detection of HPV types 11/16 and EBV DNA was performed using the RT-PCR method. Results: The mean age of the patients with antrochoanal polyp was 26.7 +/- 15.4 years (range 7-70). There were 20 (46.5%) women and 23 (53.5%) men in the antrochoanal polyp group. HPV DNA was positively detected using the nested-PCR method in 14 (32.6%) of the patients with antrochoanal polyp and in 3 (11.1%) of the patients with nasal polyp. HPV DNA was not detected in the hypertrophic inferior turbinate group (control group). There was a statistically significant difference between all groups in terms of HPV DNA positivity. In the antrochoanal polyp group, 2 patients had HPV 11 positivity and 12 patients had HPV 16 positivity. In the nasal polyp group, 1 patient had HPV 11 positivity and 2 patients had HPV 16 positivity. EBV DNA was positively detected in 16 (37.2%) of the patients with antrochoanal polyp, in 11 (40.7%) of the patients with nasal polyp and in 8 (26.7%) of the patients with hypertrophic inferior turbinate, respectively. There was no statistically significant difference between the groups in terms of EBV DNA positivity. Conclusions: This study demonstrates that there is a need for further studies investigating the presence of viruses in antrochoanal polyps.Öğe First molecular evidence of ocular transmission of Encephalitozoonosis during the intrauterine period in rabbits(ELSEVIER IRELAND LTD, 2019) Ozkan, Ozcan; Karagoz, Alper; Kocak, NadirMany reports have been published on the suspected vertical transmission of Encephalitozoon cuniculi; however, prior to 2003, these reports were based on circumstantial evidence, such as histopathological, immunohistochemical, or serological diagnosis of the infection. In 2003, vertical transmission of the parasite was confirmed by detection of E. cuniculi DNA in fetuses with the nested polymerase chain reaction (PCR) technique. However, the passage of the parasite to eyes of fetus during the intrauterine stage still requires verification. In the current study, natively infected with parasite spores female rabbits were mated with non-infected males. All resulting offspring that died before ten postpartum days were investigated using molecular techniques to confirm the intrauterine transmission of the parasite to the offspring' eyes. In total, 119 DNA samples from rabbit offspring tissues were collected from blood, kidney, brain, eye (both eyes were used as single samples), lung, placenta, liver and heart were used for PCR. Parasitic DNA in the eyes of offspring was detected (54%) 6 of 11 naturally seropositive mother rabbits. PCR results were found to be positive for the eyes of 63% (19/30) of the offsprings from seropositive rabbits. Therefore, mother rabbits naturally infected with E. cuniculi showed the molecular presence of the parasite in their offspring' eyes. Sequence analysis confirmed the partial DNA sequence data of E. cuniculi and blast analysis identified the agent as genotype I. These results confirm transmission of E. cuniculi to rabbit offspring' eyes in the intrauterine period. This is the first molecular evidence to show ocular transmission of the infection via an intrauterine route in rabbits.Öğe Determination of antibiotic susceptibility, esbl genes and pulsed-field gel electrophoresis profiles of extended-spectrum beta-lactamase-containing escherichia coli isolates(ANKARA UNIV PRESS, 2019) Tütün, Hidayet; Karagöz, Alper; Altıntaş, Levent; Koçak, NadirThe purpose of this study was to determine the phenotypic antibiotic susceptibility patterns, extended-spectrum beta-lactamase (ESBL) genes and genotypic profiles of ESBL-positive Escherichia coli strains isolated from urine samples obtained from outpatients with urinary tract infection in Turkey. A total of 120 E. coli strains during 2017, 2018, and 2019 (40 patients per year) were examined for antibiotic susceptibility patterns by disc diffusion method, for ESBL genes using PCR and sequencing and for molecular typing by pulsed-field gel electrophoresis (PFGE) method. The isolates were evaluated for their sensitivity to 21 different antibiotics. Four different antimicrobial resistance patterns were determined according to antibiotic susceptibility status of the isolates. The beta-lactamase genes detected in the isolates were CTX-M-15 + OXA-1 (n = 14), CTX-M-15 (n = 24), TEM-1 + CTX-M-15 (n = 52), TEM1 + SHV-12 (n = 6), SHV-12 1 (n = 6), TEM-1 + CTX-M-1 (n = 6), TEM-1 + CTX-M-16 (n = 6) and TEM-1 + CTX-M-9 (n = 6). The CTX-M-15 was the most prevalent ESBL enzyme in the isolates. As a result of PFGE analysis performed by XbaI enzyme restriction process, one major PFGE profile and three main groups (Group I-I-III) were observed. While antibiotic resistance profiles of the strains showed four groups (RI-RII-RIII-RIV), PFGE band profiles showed a major group (90% similarity ratio). High ESBL production and decreased susceptibility to broad-spectrum cephalosporins were observed in E. coli strains. In addition, PFGE analysis showed high clonal similarity among E. coli isolates.Öğe The first molecular detection and genotyping of encephalitozoon cuniculi in rabbit's eye in Turkey(KAFKAS UNIV, VETERINER FAKULTESI DERGISI, 2018) Özkan, Özcan; Karagöz, Alper; Koçak, Nadir; Alçığır, Mehmet ErayEncephalitozoon cuniculi was first recognized as the disease agent in rabbits in 1922. The genotype of E. cuniculi isolated from laboratory rabbits with the neurologic disease was described as genotype I. In the eye, this parasite causes damage to the lens, causing phacoclastic uveitis and cataracts. Intraocular infection often occurs in cases of transplacental transmission. There has been no report on the molecular diagnosis of the parasite in Turkey. The current study is the first report on the detection of E. cuniculi spores using the molecular method in Turkey. In our previous study, a rabbit breeding facility was determined seropositive for E. cuniculi infection monitored for five years in terms of clinical symptoms. An autopsy was performed for a definite diagnosis of the infection. Samples were stained according to the hematoxylin-eosin (H&E) staining after tissue processing procedure and histopathologic analysis was performed. In addition to, the samples for DNA extraction were also taken during the autopsy. ECUNF and ECUNR species-specific primer pairs were used for amplification and genotyping of E. cuniculi. The animals were observed no clinical symptoms except ocular lesion (n=9). Therefore, one of these rabbits was used in the autopsy to definite diagnosis and determination of the damage to the eye. As histopathological, the lesions in the eye were found in the initial or middle stage of progressive infection. The DNA sequence showed that E. cuniculi examined in the present study were genotype I. Possible cause of the visible white mass in the rabbit's eye may be the parasite infection. Therefore, clinicians may consider E. cuniculi as one of the possible causes of ocular lesions in rabbits during daily inspection or ophthalmological examination.Öğe PIK3R1 gene polymorphisms are associated with type 2 diabetes and related features in the Turkish population(WROCLAW MEDICAL UNIV, 2018) Karadogan, Abdullah Hakan.; Arikoglu, Hilal.; Gokturk, Fatma.; Iscioglu, Funda.; Ipekci, Suleyman Hilmi.Background. The phosphatidylinositol 3-kinase p85 alpha regulator subunit 1 gene (PIK3R1) encodes the PIK3R1 protein, which plays a direct role in insulin signaling. PIK3R1 (p85 regulatory subunit) connects firmly with the p110 catalytic subunit, and together these proteins form the phosphatidylinositol 3-kinase (PI3K) protein. PI3K is a key protein in the Akt signaling pathway, which regulates cell survival, growth, differentiation, glucose trafficking, and utilization. Defects in the insulin signaling cascade play an important role in the development of insulin resistance, which shares a common genetic basis for metabolic diseases such as type 2 diabetes (T2D), obesity and cardiovascular diseases. Objectives. In our study, we investigated the effect of single nucleotide polymorphisms (SNPs) rs3756668 in 3'UTR region, rs706713 and rs3730089 in exons 1 and 6, respectively, rs7713645 and rs7709243 in intron 1, and rs1550805 in intron 6 of PIK3R1 gene on T2D. Material and methods. This study enrolled a total of 840 individuals, including 427 diabetic individuals (206 obese and 221 non-obese) and 413 nondiabetic individuals (138 obese and 275 non-obese). The target SNPs were analyzed using real-time polymerase chain reaction (RT-PCR). Statistical analysis was performed using SPSS18.0 (IBM Corp., Armonk, USA). The p-values >= 0.05 were consideied statistically significant. Results. The SNPs rs706713 (Tyr73Tyr) and rs3730089 (Met326lle) located in exons, and rS7713645, rs7709243 and rs1550805 located in introns were determined to be significantly associated with T2D and phenotypic features such as obesity, insulin resistance and the lipid parameters. The association with SNP rs3756668, which is located in the 3'UTR, was not significant. Conclusions. Our study supports the role of PIK3R1, an important candidate gene due to its critical role in insulin signal transduction, in T2D development.Öğe Warburg Micro Syndrome in Two Children From a Highly Inbred Turkish Family(MEDECINE ET HYGIENE, 2012) Yıldırım, M. S.; Zamani, A. G.; Bozkurt, B.Warburg micro syndrome in two children from a highly inbred Turkish family: Warburg Micro syndrome (WMS) was first reported by Warburg in 1993. The cardinal features are microcephaly, microphthalmia, congenital cataract and intellectual disability. We report on two children from a highly inbred family with microcephaly, congenital cataract, optic atrophy, hypotonia and severe psychomotor retardation. This phenotype is similar to other reported rare entities and especially to the family reported by Warburg. Four other children in the same family may also have been affected. In this report, the symptoms and features of our cases are compared with the Warburg Micro syndrome patients in literature.Öğe Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization(Cell Press, 2012) Twigg, Stephen R. F.; Lloyd, Deborah; Jenkins, Dagan; Elçioglu, Nurse E.; Cooper, Christopher D. O.; Al-Sannaa, Nouriya; Annağur, Ali; Gillessen-Kaesbach, Gabriele; Hüning, Irina; J.L. Knight, Samantha; Goodship, Judith A.; Keavney, Bernard D.; Beales, Philip L.; Gileadi, Opher; McGowan, Simon J.; Wilkie, Andrew O.M.Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutations of RAB23, encoding a small GTPase that regulates vesicular transport, are present in the majority of cases. Here, we describe a disorder caused by mutations in multiple epidermal-growth-factor-like-domains 8 (MEGF8), which exhibits substantial clinical overlap with Carpenter syndrome but is frequently associated with abnormal left-right patterning. We describe five affected individuals with similar dysmorphic facies, and three of them had either complete situs inversus, dextrocardia, or transposition of the great arteries; similar cardiac abnormalities were previously identified in a mouse mutant for the orthologous Megf8. The mutant alleles comprise one nonsense, three missense, and two splice-site mutations; we demonstrate in zebrafish that, in contrast to the wild-type protein, the proteins containing all three missense alterations provide only weak rescue of an early gastrulation phenotype induced by Megf8 knockdown. We conclude that mutations in MEGF8 cause a Carpenter syndrome subtype frequently associated with defective left-right patterning, probably through perturbation of signaling by hedgehog and nodal family members. We did not observe any subject with biallelic loss-of function mutations, suggesting that some residual MEGF8 function might be necessary for survival and might influence the phenotypes observed.Öğe Investigation of eNOS Gene Intron 4 A/B Vntr and Intron 23 Polymorphisms in Patients with Essential Hypertension(Tübitak Scientific & Technical Research Council Turkey, 2010) Mehmetoğlu, İdris; Yılmaz, Gülsüm; Kurban, Sevil; Acar, Hasan; Düzenli, M. AkifAim: Nitric oxide (NO) plays a mayor role in the regulation of vascular tone Production of NO can be influenced by polymorphisms of the endothelial NO synthase (eNOS) gene, which may be associated with the pathogenesis of essential hypertension (EHT) Therefore, eNOS gene intron 4 a/b variable number of tandem repeats (VNTR) and intron 23 polymorphisms were investigated in patients with EHT living in a central area of Turkey. Materials and methods: The study was performed in 91 patients (34 M, 57 F) with EHT, aged 38-76 years, and 75 age- and sex-matched healthy controls (35 M, 40 F). eNOS gene polymorphisms were detected by polymerase chain reaction method. Results: There was no significant difference between the G-allele frequency of the G10-T polymorphism in intron 23 and intron 4 a/b VNTR polymorphism of the eNOS gene in EHT patients and in the controls Conclusion: eNOS gene intron 4 a/b VNTR and intron 23 gene polymorphisms were not associated with EHT patients living in a central area of Turkey Further studies are needed to investigate whether these 2 polymorphisms of the eNOS gene could represent useful genetic markers for indentifying individuals at risk of developing EHT.Öğe Hopelessness of Mothers Who Have Children With Down Syndrome(Medecine Et Hygiene, 2010) Yıldırım, A.; Yıldırım, M. S.Hopelessness of mothers. who have children with Down syndrome: This study was conducted to determine hopelessness status of mothers who have children with Down syndrome. Beck Hopelessness Scale was used in this restrictive type study. The average value of mothers enrolled in the study was detected as 8.29 +/- 2.49. Age, education level, socio-economical status, work and the problems between parents were also examined and it was found that there is a relationship between the education level, socio-economical status, the problems between parents and the hopelessness scale (p<0.01). Consequently, it is apparent that the mothers who have children with Down syndrome need social and psychological support to overcome their feelings of hopelessness.Öğe Generalized Aggressive Periodontitis in a Child With 92, Xxyy/46,xy Mosaicism: Report of a Second Case(Turkish J Pediatrics, 2010) Olgun Erdemir, Ebru; Yıldırım, Mahmut Selman; Karşıyaka, MeltemOlgun Erdemir, E., Yıldırım, M. S., Karşıyaka, M., Generalized aggressive periodontitis in a child with 92,XXYY / 46,XY mosaicism: report of a second case. Turk J Pediatr 2010; 52: 94-96. The present case report describes the oral features of tetraploid/diploid mosaicism. An 11-year-old boy with severe periodontal destruction is presented in this report. He was examined clinically, radiologically, immunologically, and genetically. Significant edema of the gingiva, severe sulcular bleeding on probing and mobility of many teeth were detected on intraoral examination. There was severe generalized maxillary and mandibular bone loss as determined by radiological examination. He was diagnosed as generalized aggressive periodontitis. The cytogenetic examination revealed 92,XXYY (4%) / 46,XY (96%) karyotype indicating tetraploid/diploid mosaicism. Nonsurgical periodontal therapy was applied and he is currently under a routine follow-up period. In this report, the oral characteristics of tetraploid/diploid mosaicism are described. Dental practitioners should see these patients in some distinct periods, because tetraploid/diploid mosaicism subjects may have aggressive periodontitis.Öğe Expression of Toll-like Receptors (Tlrs) is Regulated by Early Pregnancy in the Mare Endometrium.(SOC STUDY REPRODUCTION, 2012) Atlı, Mehmet Osman; Kurar, Ercan; Kayış, Seyit Ali; Aslan, Selim; Semacan, Ahmet; Çelik, Sefa; Güzeloğlu, AydınPractical, reliable and economical pregnancy diagnosis method for as early as possible time of pregnancy in mares is still requirement. Immune tolerance against allogenic fetus is critically important during the early pregnancy. Tolllike Receptors (TLRs) are known to be an important part of innate immune system. Aim was to evaluate expression of TLRs in peripheral blood mononuclear cells (PBMCs) during the early pregnancy in mare.Öğe Di George Syndrome: Clinical Heterogeneity Can Hamper the Diagnosis(Wiley-Blackwell, 2010) Göktürk, B.; Artaç, H.; Keleş, S.; Yıldırım, S.; Kara, R.; Kıraç, M.; Reisli, I.[Abstract not Available]Öğe Association of the Polymorphisms of Vitamin D Receptor and Aggrecan Genes With Degenerative Disc Disease(Mary Ann Liebert Inc, 2010) Eser, Betül; Cora, Tülin; Eser, Olcay; Kalkan, Erdal; Haktanır, Alpay; Erdoğan, Müjgan O.; Solak, MustafaThe aim of this study was to investigate the association between the polymorphisms of the vitamin D receptor (VDR) and aggrecan genes and degenerative disc disease in young Turkish patients. Aggrecan and VDR proteins are the main components of bone and cartilage. In our study, the polymorphisms of the VDR and aggrecan genes were investigated in a total of 300 individuals regarding disc degeneration and herniation. An association was found in the patients having VDR gene TT, Tt, FF, and Ff genotypes with the protrusion type of disc herniation, whereas the patients having tt and ff genotypes were associated with extrusion/sequestration types of the disease. Also, an association was observed between TT and FF genotypes of the VDR gene and mild forms of disc degeneration; and tt, ff, and Ff genotypes and severe forms of the disease. There was also an association between shorter, normal, and longer alleles of the aggrecan gene and a protrusion type of disc herniation. An association was found between short alleles and multilevel and severe disc degeneration, as well as normal and long alleles and mild disc degeneration. This study revealed that the polymorphisms of the VDR and aggrecan genes are associated with disc degeneration and herniation.Öğe 677C > T and 1298A > C Polymorphisms of Methylenetetrahydropholate Reductase Gene and Biochemical Parameters in Turkish Population with Spina Bifida Occulta(Turkish Neurosurgical Soc, 2010) Eser, Betül; Coşar, Murat; Eser, Olcay; Erdoğan, Müjgan O.; Aslan, Adem; Yıldız, Handan; Boyacı, Gazi; Büyükbaş, Sadık; Solak, MustafaAIM: This study aimed to investigate the 677C>T and 1298A>C MTHFR gene polymorphisms and their metabolic effects on the levels of folate, vitamin B12 and homocysteine in the serum of Turkish spina bifida occulta (SBO) patients and healthy individuals in disease. MATERIAL and METHODS: A case-control study was performed to detect 677C>T and 1298A>C MTHFR gene polymorphisms in 39 SBO patients and 34 healthy individuals. The folate, vitamin B12 and homocysteine concentrations in the serum of SBO and healthy individuals were evaluated and compared with MTHFR gene polymorphisms. RESULTS: 677 CC/CT/TT MTHFR genotype frequency differences between the SBO patients and controls were not significant (x(2)=3.325, P=0.068; x(2)=1.479, P=0.224; x(2)=0.275, P=0.600; respectively). 1298A>C MTHFR genotype frequency differences between the SBO patients and controls were significant (x(2)=8.477, P=0.004). The frequencies of the A and C alleles of the 1298A>C polymorphism did not differ in a statistically significant manner between the groups (x(2)=0.576, P=0.448). The biochemical parameters were not significantly different between SBO patients and healthy individuals (P>0.05). CONCLUSION: The 677C>T and 1298A>C polymorphisms of the MTHFR gene cannot be regarded as major risk factors for SBO in the Turkish patients 677TT homozygosity may affect the metabolism of homocysteine.Öğe Travmada Enfeksiyon ve İmmünite Sorunu(2010) Büyükdoğan, MuratCerrahi alanında travmayı takiben oluşan immünolojik ve enfeksiyöz sorunlar henüz yeterince önem kazanmamıştır ve bu sorunlar cerrahlar tarafından ampirik olarak tedavi edilmektedir. Bu derlemede enfeksiyonun nedenleri, risk faktörleri, bulgu ve semptomları ile immünitenin rolü tartışılarak önleyici modaliteler ve proflaksi tanımlanmaya çalışılmıştır.
