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Yayın Blood oxidative stres biomarkers in patients with Familial Mediterranean Fever (FMF)(Thieme Publishing Group, 2010) Çelik, Serkan; Öktenli, Çağatay; Terekeci, Murat Hakan; İpçioğlu, Osman; Sanisoğlu, Yavuz S.; Sayan, Özkan; Yeşilova, Zeki; Yıldız, Oğuzhan; Tunca, Yusuf; Nalbant, SelimInterest in the relationship between oxidative stress and inflammation has increased in recent years. Familial Mediterranean fever (FMF) represents a suitable autoinflammatory disease model for investigation of this relationship. We aimed to determine blood oxidative stress biomarkers in patients with FMF in both acute attacks and in attack-free periods, and to evaluate its associations with pyrine mutations and C-reactive protein (CRP) levels. The mean levels of CRP and serum lipid hydroperoxide were higher and serum superoxide dismutase and catalase activities were lower in patients with FMF than in healthy volunteers. Serum lipid hydroperoxide levels were higher and antioxidants were lower in FMF patients during an acute attack than in the attack-free period. Serum lipid hydroperoxide levels were significantly higher, and antioxidants were significantly lower in patients with the M694V homozygous mutations than the other genotypes. Our data imply that higher serum lipid hydroperoxide and lower antioxidant enzyme activities in FMF may indicate inflammation-related 'oxidative stress'. Our findings also raise interesting questions on oxidative stress and its associations with pyrine mutations in FMF and awaits further investigations.Yayın High frequency of MEFV gene mutations in patients with myeloid neoplasm(SpringerLink., 2010) Öktenli, Çağatay; Sayan, Özkan; Çelik, Serkan; Erikçi, A. Alev; Tunca, Yusuf; Terekeci, Murat Hakan; Erkuvan Umur, Elçin; Sanisoğlu, Yavuz S.; Torun, Deniz; Tangı, Fatih; Şahan, Burak; Nalbant, SelimWe aimed to investigate the rate of MEFV, the gene mutated in familial Mediterranean fever, mutations in patients with myeloid neoplasm and to determine if known mutations of MEFV cause a tendency for myeloid neoplasms. The frequency of the five most common MEFV gene mutations (M694V, M680I, V726A, E148Q and M694I) was determined in 26 patients with myeloid neoplasm. We identified 1 homozygous (E148Q/E148Q), 1 compound heterozygous (M694V/E148Q) and 5 heterozygous MEFV gene mutations; none had their own and/or family history compatible with familial Mediterranean fever. The mean overall mutation rate was 0.269. We found a high frequency of carriers in patients with myelodysplastic syndrome (66.6%), polycythemia vera (33.3%) and acute myeloid leukemia (28.6%). However, there was no MEFV gene mutation in patients with chronic myeloid leukemia. In conclusion, this study reports for the first time a possibly high prevalence of MEFV gene mutations in patients with myeloid neoplasm, especially myelodysplastic syndrome, polycythemia vera and acute myeloid leukemia. Our findings could open new perspectives for MEFV gene mutations in myeloid neoplasms and its association with tumor promotion. Further research is needed to determine the actual role of MEFV gene mutations in these malignancies.