Yazar "Balduz, Metin" seçeneğine göre listele

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  • [ X ]
    Öğe
    Arnold Chiari-I Malformasyonu ile Muhtemel İlişkili İnternükleer Oftalmopleji
    (Gümüşhane Üniversitesi, 2014) Özdemir, Hasan H.; Demir, Caner F.; Berilgen, M. Said; Taşcı, İrem; Balduz, Metin
    Arnold Chiari-I malformasyonu (ACM) serebellar tonsillerin spinal kanala doğru herniasyonu ile karakterize bir konjenital anomalidir. Farklı klinik ve zamanlarda çeşitli semptomlar görülebilir. 40 yaşında bir kadın hasta akut başlangıçlı yürüme güçlüğü, bulanık ve çift görme ile kliniğimize başvurdu. Nörolojik muayenesinde internükleer oftalmopleji saptandı. Bu yazıda; ACM bulgusu olarak bulanık görme, baş ağrısı ataksi ve sağ INO ile başvuran, dekompresyon cerrahisinden sonra, sadece kısmen sola bakışta sağ gözde içe bakış kısıtlılığı devam eden nadir bir vakayı sunduk.
  • [ X ]
    Öğe
    Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case-control study
    (Dove Medical Press Ltd, 2016) Coskun, Salih; Varol, Sefer; Ozdemir, Hasan H.; Celik, Sercan Bulut; Balduz, Metin; Camkurt, Mehmet Akif; Cim, Abdullah
    Migraine pathogenesis involves a complex interaction between hormones, neurotransmitters, and inflammatory pathways, which also influence the migraine phenotype. The Mediterranean fever gene (MEFV) encodes the pyrin protein. The major role of pyrin appears to be in the regulation of inflammation activity and the processing of the cytokine prointerleukin-1 beta, and this cytokine plays a part in migraine pathogenesis. This study included 220 migraine patients and 228 healthy controls. Eight common missense mutations of the MEFV gene, known as M694V, M694I, M680I, V726A, R761H, K695R, P369S, and E148Q, were genotyped using real-time polymerase chain reaction with 5' nuclease assays, which include sequence specific primers, and probes with a reporter dye. When mutations were evaluated separately among the patient and control groups, only the heterozygote E148Q carrier was found to be significantly higher in the control group than in the patient group (P=0.029, odds ratio [95% confidence interval] =0.45 [0.21-0.94]). In addition, the frequency of the homozygote and the compound heterozygote genotype carrier was found to be significantly higher in patients (n=8, 3.6%) than in the control group (n=1, 0.4%) (P=0.016, odds ratio [95% confidence interval] =8.57 [1.06-69.07]). However, there was no statistically significant difference in the allele frequencies of MEFV mutations between the patients and the healthy control group (P=0.964). In conclusion, the results of the present study suggest that biallelic mutations in the MEFV gene could be associated with a risk of migraine in the Turkish population. Moreover, MEFV mutations could be related to increased frequency and short durations of migraine attacks (P=0.043 and P=0.021, respectively). Future studies in larger groups and expression analysis of MEFV are required to clarify the role of the MEFV gene in migraine susceptibility.