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Permanent URI for this collectionhttps://hdl.handle.net/11443/932

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Subject: search.filters.subject.mutation

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    Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study
    (LIPPINCOTT WILLIAMS \& WILKINS, 2022-01-01) Yesilaltay, Alpay; Degirmenci, Hasan; Bilgen, Turker; Sirin, Duygu Yasar; Bayir, Duygu; Degirmenci, Pelin; Tekinalp, Atakan; Alpsoy, Seref; Okuturlar, Yildiz; Turgut, Burhan
    Background: We have aimed at exposing left ventricular diastolic functions and the presence of known genetic mutations for familial erythrocytosis, in patients who exhibit idiopathic erythrocytosis. Methods: Sixty-four patients with idiopathic erythrocytosis (mean age, 46.4 +/- 2.7 years) and 30 age-matched healthy subjects were prospectively evaluated. The regions of interest of the erythropoietin receptor, hemoglobin beta-globin, von Hippel-Lindau, hypoxia-inducible factor 2 alpha, and Egl-9 family hypoxia-inducible factor genes were amplified by PCR. Left ventricular (LV) mass was measured by M-mode and 2-dimensional echocardiography. LV diastolic functions were assessed by conventional echocardiography and tissue Doppler imaging. Results: As a result of genetic analyses, genetic mutations for familial erythrocytosis were detected in 5 patients. It has been observed in our study that the risk of cardiovascular disorders is higher in patients. Interventricular septum thickness, left atrial diameter, and some diastolic function parameters such as deceleration time and isovolumetric relaxation time have been found to be significantly higher in idiopathic erythrocytosis group than in the controls. Conclusion: This study has shown that LV diastolic functions were impaired in patients with idiopathic erythrocytosis. In this patient group with increased risk of cardiovascular disorders, the frequent genetic mutations have been detected in 5 patients only. Therefore, further clinical investigations are needed as novel genetic mutations may be discovered in patients with idiopathic erythrocytosis because of cardiovascular risk.
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    A cross-sectional overview of SARS-CoV-2 genome variations in Turkey
    (WALTER DE GRUYTER GMBH, 2021-01-01) Ergunay, Koray; Kaya, Mucahit; Serdar, Muhittin; Akyon, Yakut; Yilmaz, Engin
    Objectives: We assessed SARS-CoV-2 genome diversity and probable impact on epidemiology, immune response and clinical disease in Turkey. Materials and methods: Complete genomes and partial Spike (S) sequences were accessed from the Global Initiative on Sharing Avian Influenza Data (GISAID) database. The genomes were analysed for variations and recombinations using appropriate softwares. Results: Four hundred ten complete genomes and 206 S region sequences were included. Overall, 1,200 distinct nucleotide variations were noted. Mean variation count was 14.2 per genome and increased significantly during the course of the pandemic. The most frequent variations were identified as A23403G (D614G