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    A comparative evaluation of hematological and biochemical parameters between the Italian mullet Mugil cephalus (Linnaeus 1758) and the Turkish mullet Chelon auratus (Risso 1810)
    (Tubitak Scientific & Technological Research Council Turkey, 2020) Fazio, Francesco; Saoca, Concetta; Acar, Umit; Tezel, Rifat; Celik, Murat; Yilmaz, Sevdan; Kesbic, Osman Sabri
    This study aimed to carry out a comparative evaluation of the hematological profile (erythrocyte count, hemoglobin concentration, hematocrit, and Wintrobe index parameters such as mean corpuscular volume, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration), in addition to certain biochemical parameters (aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase, lactate dehydrogenase, scrum total protein, albumin, glucose, total cholesterol, and triglycerides), in the Italian mullet Mugil cephalus (Linnaeus 1758) and the Turkish mullet Chelon auratus (Risso 1810). Accordingly, two groups of fish were used in this study: 30 flathead grey mullets, M. cephalus, caught in Lake Faro, Italy, and 30 golden grey mullets, C. auratus, caught in the estuarine channel system of Keycegiz-Dalyan, Turkey. Statistical evaluations (unpaired t-test) revealed that there were no significant differences in weight or total length values between the two mullet groups. However, the differences between all the evaluated blood parameters (except alanine aminotransferase) between the Italian and the Turkish mullet were significant (P < 0.0001). The present study demonstrated that there were significant hematological and biochemical differences between the Italian (M. cephalus) and the Turkish (C. auratus) mullet. Our findings also contribute to expanding the knowledge on the hematology and biochemistry of two different species of mullet originating from two different habitats. Since the evaluation of blood parameters represents an essential tool in examining the effects of environmental conditions on fish physiology and, consequently, on fish health status, further research in this field is encouraged and would be very useful.
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    The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Turkiye
    (Kare Publ, 2023) Oktay, Veysel; Tufekcioglu, Omac; Yilmaz, Dilek Cicek; Onrat, Ersel; Karabulut, Dilay; Celik, Murat; Balcioglu, Akif Serhat
    Background: Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. Methods: A total of 392 patients with hypertrophic cardiomyopathy were included in this nationwide multicenter study conducted at 23 centers across Turkiye. All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. Results: The next-generation sequencing panel identified positive genetic variants (variants of unknown significance, likely pathogenic or pathogenic) in 12 genes for 121 of 392 samples, including sarcomeric gene mutations in 30.4% (119/392) of samples tested, galactosidase alpha variants in 0.5% (2/392) of samples and TTR variant in 0.025% (1/392). The likely pathogenic or pathogenic variants identified in 69 (57.0%) of 121 positive samples yielded a confirmed molecular diagnosis. The diagnostic yield was 17.1% (15.8% for hypertrophic cardiomyopathy variants) for hypertrophic cardiomyopathy and hypertrophic cardiomyopathy phenocopies and 0.5% for Fabry disease. Conclusions: Our study showed that the distribution of genetic mutations, the prevalence of Fabry disease, and TTR amyloidosis in the Turkish population diagnosed with hypertrophic cardiomyopathy were similar to the other populations, but the percentage of sarcomeric gene mutations was slightly lower.