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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 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 Double aneuploidy: A case of trisomy 21 with XYY(2011) Köken, Reşit; Bükülmez, Ayşegül; Köken, Gülengül Nadirgil; Eser, Betül; Şamlı, Hale; Demir, Tevfik; Solak, MustafaAnöploidiler yaygın görülen kromozomal anomaliler olmalarına rağmen kromozom 21 ve Y’yi içeren çift anöploidiler çok nadirdir. Burada sarılığı ve polisitemisi olan Kromozom 21 ve Y’yi içeren çift anöploidili beş günlük bir vaka rapor edilmektedir. Tanı, modifiye tam kan ve mikroteknik yöntemle Giemsa-Tripsin-Leishman (GTL) bantlama tekniği kullanılarak yapılan karyotip analizi ile kondu. Olgumuzda Down Sendromu’nun tipik özellikleri mevcuttu. Ancak XYY’ye ait fenotipik özellikler yoktu. Ayrıca olgumuzda atriyal septal defekt, multiple trabeküler küçük ventriküler septal defekt ve orta derece pulmoner hipertansiyon da mevcuttu. 48,XYY,21’in etyolojisinde yer alan etyolojik faktörler bilinmemektedir. 48,XYY,21’in insidansının, fenotipik özelliklerinin ve tekrarlama riskinin belirlenmesi zordur.Öğe The effects of CO2 pneumoperitoneum on the apoptotic index in the peritoneum(HEALTH COMMUNICATIONS INC, 2007) Tosun, Murat; Samli, Hale; Arikan, Yueksel; Solak, Mustafa; Sahin, Ali; Soeylemez, Zafer; Kalkan, SerpilDuring laparoscopic surgery, gases such as carbon dioxide (CO2), helium, or normal air are insufflated into the intra-abdominal cavity so the surgeon can obtain a clear surgical field; however, this insufflation technique may cause injury to the intra-abdominal organs. This study was undertaken to evaluate the effects of different pressures of CO2 on the apoptotic index in the peritoneum during laparoscopic surgery. A total of 30 Sprague-Dawley male rats were used in the study. CO2 was insufflated into the intra-abdominal cavity via an angiocatheter cannula by an insufflator at pressures of 10 and 20 mm Hg over 60 min. In the control group, the cannula was inserted into the intra-abdominal cavity, but no gas was insufflated. After 60 min, the rats were killed; peritoneum was harvested from the abdominal wall and was cultured in the cell culture laboratory. Apoptotic and living cells were detected immunohistochemically, and the apoptotic index was calculated and statistically analyzed. The data collected revealed that the apoptotic index increases in proportion to the level of CO2 pressure. CO2 pneumoperitoneum is a very useful technique. Gas pressure must be carefully set during the operation, however, or injured mesothelial cells may cause serious malfunction.
