Yazar "Yildirim, M. S." seçeneğine göre listele
Listeleniyor 1 - 5 / 5
Sayfa Başına Sonuç
Sıralama seçenekleri
Öğe Determination of whole genome expression differences in larynx cancers and clinical significance(NATURE PUBLISHING GROUP, 2018) Goktas, E.; Yildirim, M. S.; Ozturk, K.; Zamani, A. G.[Abstract not Available]Öğe DOWN SYNDROME ASSOCIATED WITH SEVERE COMBINED IMMUNODEFICIENCY: A CASE REPORT(MEDECINE ET HYGIENE, 2009) Yildirim, M. S.; Artac, H.; Reisli, I.Down syndrome associated with severe combined immunodeficiency: a case report: An 8-month-old-boy was admitted to the hospital because of recurrent bronchopneumonia and gastrointestinal tract infections. On physical examination, lie had hypotonia, mental retardation, microcephaly with flat facies, low nasal bridge, small nose, small ears. Laboratory evaluation revealed Down syndrome, lymphopenia, hypogammaglobulinemia, reduced proportions of the peripheral blood lymphocytes with an inverted CD4/CD8 ratio and markedly reduced mitogen response of the lymphocytes. We report here unique case of Down syndrome associated with severe combined immunodeficiency.Öğe Evaluation of death pathway genes FAS and FASL polymorphisms in chronic HBV infection(WILEY-BLACKWELL, 2013) Zamani, A. G.; Barlas, I. O.; Durakbasi-Dursun, G.; Ural, O.; Erdal, E.; Yildirim, M. S.This study was designed to determine the possible asssociation between selected FAS and FASLG polymorphisms and Hepatitis B virus (HBV) infection. FAS-670 G/A, FAS-1377 G/A, FASLG-844 T/C and FASLGIVS2nt-124 A/G polymorphisms were genotyped by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). A total of age and sex matched 108 controls and a hundred chronic HBV patients were recruited to conduct a case-control study. FAS-670 polymorphism was associated with chronic HBV infection (P=0.03) FAS-1377 GG, GA and AA genotypes among the cases (90%, 5% and 5%, respectively) were significantly different from those among the controls (68%, 31.5% and 5.6%; P=0.00). FASLG-844 allele distribution was similar between the groups (P=0.17) but TC genotype (67.3%) was frequent in chronic HBV patients, while CC genotype was found significantly higher (29.6%) in controls. No association between FASLGIVS2nt-124 polymorphism and chronic HBV infection could be identified (P=0.55). FAS-670 polymorphism is associated with chronic HBV infection, while FASLGIVS2nt-124 A/G polymorphism is not. The FAS-1377G/A and FASLG-844 T/C genotypes are likely to play a substantial role in HBV infection. Further studies evaluating polymorphisms in other genes related with apoptosis are needed to elucidate the role of genetic variation in HBV infection.Öğe K-ras oncogene mutation in pterygium(NATURE PUBLISHING GROUP, 2017) Ozturk, B. T.; Yildirim, M. S.; Zamani, A.; Bozkurt, B.Purpose Pterygium is claimed to be a benign proliferation triggered by prolonged exposure to ultraviolet radiation. The frequency of K-ras oncogene mutation, which is among the initial mutations in tumorigenesis, is evaluated in this study. Patients and methods In this prospective randomized clinical, trial pterygium tissues and normal conjunctiva tissue specimens are obtained from the superotemporal quadrant of patients who underwent primary pterygium excision with autograft transplantation. DNA extraction from tissues was performed using the QIAamp DNA FFPE tissue kit. A PCR reaction was performed to amplify sequences containing codons 12, 13, and 61 of the K-ras gene in DNA. These PCR products then underwent the ` pyrosequencing' procedure for mutations at these codons. Results Pterygium and normal conjunctival tissue samples of 25 patients (10 females, 15 males) were evaluated in the study. The mean age of the patients was 54.54 +/- 13.13 years. Genetic analysis revealed no K-ras mutations in normal conjunctival tissues, whereas pterygium tissues of the same cases demonstrated mutation at codon 12 in one case and mutations at codon 61 in seven cases, which was statistically significant (P<0.05). The point missense mutations at codon 61 were glutamine to arginine (Glu61Arg CAA>CGA) in four cases and glutamine to leucine (Glu61Leu CAA>CTA) in three cases. Conclusion The significantly higher frequency of codon 61 mutation of the ras oncogene in primary and bilateral pterygium specimens compared with normal conjunctiva supports the tumoral origin of pterygium, and thus set the stage for research into a targeted therapy for pterygium with better outcomes than surgical excision.Öğe Patent ductus arteriosus, ventricular septal defect and pulmonary hypertension in a child with 49, xxxxy syndrome(MEDECINE ET HYGIENE, 2006) Yildirim, M. S.; Elmas, S.; Baysal, T.; Dogan, M.; Karaaslan, S.[Abstract not Available]
