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    The frequency of A91V in the perforin gene and the effect of tumor necrosis factor-alpha promoter polymorphism on acquired hemophagocytic lympholmstiocytosis
    (Galenos Yayincilik, 2011) Okur, Hamza; Unal, Sule; Balta, Gunay; Efendioglu, Didem; Cimen, Eren; Cetin, Mualla; Gumruk, Fatma
    Objective: Numerous acquired etiological factors, such as infections, malignancies, and collagen tissue disorders, are involved in the development of acquired hemophagocytic lymphohistiocytosis (AHLH). Not everyone with the same etiological factors developments AHLH, which suggests the role of additional genetic or environmental predisposing factors that remain to be identified. Materials and Methods: Perforin gene A91V missense transition (C>T change at position 272 in exon 2 of the perforin gene) and TNF-alpha gene promoter-1031 T>C nucleotide substitution are 2 candidate genetic predisposing factors due to their potential to alter inflammatory responses. In the present study these changes were investigated in healthy controls and AHLH patients. Results: A91V transition was observed in 7 of the 159 (4.4%) controls. Among the 44 AHLH patients, 5 (11.3%) were heterozygous and the difference in the frequency of A91V transition, although striking (odds ratio: 2.8), was not statistically significant (p=0.09). All A91V-positive patients had infection. TNF-alpha-1031 T>C polymorphism was examined in 164 healthy controls and 40 AHLH patients, and the CC risk-elevating genotype was noted in 7 (4.3%) of the controls and 1 (2.5%) of the AHLH patients. The frequency of C and T alleles was 22.5% (n=18) and 77.5% (n=62) among the AHLH patients, and 22% (n=72) and 78% (n=259) among the controls, respectively. There wasn't a statistically significant difference between the groups in terms of allele frequencies (p>0.05). Conclusion: The present results indicate that compared to controls, A91V mutation was 2.8-fold more prevalent (according to the odds ratio) in the AHLH patients. A91V mutation is not uncommon in the general population and increases the risk of AHLH in patients with an underlying condition, especially those with an underlying infection. (Turk J Hematol 2011; 28: 125-30)
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    The Frequency of Hepatitis B, Hepatitis C and Hepatitis G Virus in Patients with Beta-Thalassemia Major Who Receive Frequent Blood Transfusion
    (Galenos Yayincilik, 2005) Sanli, Cihat; Albayrak, Meryem; Nakipoglu, Fikret; Gumruk, Fatma
    The purpose of this study is to investigate the frequency of hepatitis B (HBV), hepatitis C (HCV) and hepatitis G (HGV) virus, the demographical characteristics and clinical information of patients with beta-thalassemia major who receive frequent blood transfusion. Seventy patients with beta-thalassemia major [36 (51.5%) male, 34 (48.5%) female] are included in our study. The age of the patients was between two and 24 years. Age, gender and clinical information (time of first transfusion, number of transfusions and hepatitis B vaccination) of the patients are recorded. HBsAg, anti-HBs, anti-HBc IgG, HBV-DNA, anti-HCV, HCV-RNA and HGV-RNA tested in all patients. Three (4.3%) patients tested HGV-RNA positive. HBsAg in 1 (1.4%) patient, anti-HBs in 66 (94.3%) patients, anti-HBc IgG in 23 (% 32.9) patients, anti-HCV in14 (20%) patients and in 5 (7.1%) HCV-RNA tested positive. There was no relationship between HGV-RNA positivity and factors such as age, gender, number of transfusion, time of first transfusion, serum ferritin or serum ALT levels. While average serum ALT levels of two patients with both HGV-RNA and HCV-RNA positive was higher than the other patients. In 4.3% of the patients who received frequent blood transfusion the HGV-RNA was detected. While HGV infection can co-exist with HBV and HCV infections, however, when it exists alone, pronounced increase in transaminase levels had not occured.