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    Association of tumour necrosis factor-alpha -308 G/A polymorphism with primary open-angle glaucoma
    (WILEY-BLACKWELL, 2012) Bozkurt, Banu; Mesci, Lutfiye; Irkec, Murat; Ozdag, Burcin B.; Sanal, Ozden; Arslan, Umut; Ersoy, Fugen
    Background: Tumour necrosis factor-alpha (TNF-a) is an important proinflammatory cytokine driving axonal degeneration and retinal ganglion cell apoptosis in glaucoma. The aim of the study was to evaluate the association of TNF-a -308 G/A and -238 G/A polymorphisms with primary open-angle glaucoma (POAG). Design: A prospective, casecontrol study, university hospital setting. Participants: Eighty-six POAG patients and 193 healthy unrelated controls. Methods: TNF-a polymorphisms were screened by using direct gene sequencing. Main Outcome Measures: Frequency of TNF-a -308 G/A and TNF-a -238 G/A promoter polymorphisms in glaucoma and healthy subjects. Results: The frequencies of TNF-a -308 GA genotype and A allele were higher in patients with POAG (22.1% and 12.2%, respectively) in comparison with the control group (10.9% and 6%, respectively) (P = 0.046 and 0.02, respectively), with odds ratios of 2.45 (P = 0.01, 95% CI = 1.234.87) and 2.19 (P = 0.013, 95% CI = 1.184.08), respectively. Genotype distribution of the TNF-a -238 variants did not yield a statistically significant difference between the two groups (P = 0.87). Conclusion: TNF-a -308 G/A polymorphism seems to be associated with POAG in Turkish population. However, population-based studies with large number of subjects and long-term follow-up are needed to verify the association of TNF-a -308 G/A polymorphism with glaucoma susceptibility.
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    Gingivitis and Very High IgE Level in a Chronic Granulomatous Disease Patient with Unusual Presentation: A Case Report
    (MARY ANN LIEBERT, INC, 2011) Kurt-Sukur, Eda Didem; Turul-Ozgur, Tuba; Yaprak, Emre; Hakki, Sema; Sanal, Ozden
    Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disease characterized by recurrent bacterial and fungal infections and is due to impaired function of superoxide-producing nicotinamide adenine dinucleotide phosphate oxidase. Patients may have elevated serum IgE levels mainly because of a high incidence of sensitization to Aspergillus species. In addition to a predisposition to infections, patients with CGD might have hyperinflammation presenting itself as chronic inflammatory lesions involving gastrointestinal mucosa, skin, lungs, eyes, and brain. Here, we present a case that mainly presented with chronic gingivitis and very high serum IgE levels and had been referred to our hospital with a probable diagnosis of hyper-IgE syndrome, another congenital immunodeficiency that is also characterized by increased susceptibility to bacterial or fungal infections and very high serum IgE levels. Detailed history of the patient revealed recurrent upper and lower respiratory tract and skin infections. He was diagnosed as having CGD by documenting defective phagocyte superoxide production and the diagnosis was then confirmed by mutation analysis. Family screening revealed that a younger brother was also affected. CGD should be considered in the differential diagnosis of patients with recurrent infections, chronic inflammatory lesions, and high serum IgE levels. These cases emphasize the importance of detailed history taking for diagnosis and family screening for identification of other affected members.