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Copyright of Hamidiye Medical Journal is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: In this study, it was aimed to measure and investigate the level of awareness about SMA disease in individuals aged 18-65 in Turkish society. We believe that the obtained data will contribute to epidemiological studies and literature. Methods: A total of 2920 individuals between the ages of 18-65 who were compos mentis were included in our study. In the study, the data collected through online applications were analyzed by using a questionnaire consisting of 2 parts and a total of 24 questions. Data analysis was performed using the SPSS version 25 package program. Results: A decrease in the level of awareness about SMA disease is observed with increasing age (p=0.0001), individuals with higher education levels are more conscious about SMA disease (p=0.0001), individuals with knowledge about SMA types have received undergraduate and graduate education (p=0.0001), it was determined that 38% of the volunteers thought that SMA disease could be treated with this method. It was determined that 75% of the individuals participating in the study could not be diagnosed with SMA disease early, 20.12% thought that SMA disease could be treated with gene therapy, and that they were aware of the fact that Ministry of Health covered the treatment of certain types of SMA patients. Discussion and Conclusion: Based on these results, it is understood that individuals who have consanguineous marriages do not know that consanguineous marriages have an effect on SMA disease. Awareness about SMA increases as you go east. We attribute this to the high number of patients in those regions. When the individuals with knowledge about gene therapy and SMA were compared, it was determined that 28,09% of the individuals had knowledge about both gene therapy and SMA disease. Today, the fact that news and social media posts about SMA disease and gene therapy are thought to have an impact on this result. [ABSTRACT FROM AUTHOR]

Copyright of Hamidiye Medical Journal is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Aim: Familial Mediterranean Fever (FMF) is the most frequent and historically the oldest autosomal recessive autoinflammatory disorder. No pathogen or auto-antibody has been shown to be associated with FMF. The disorder manifests with bouts of fever and abdominal pain, which are called "attacks". In the present study, we aimed to find the most frequent mutations in the MEFV gene in the Turkish population. Methods: Thousand eight hundred and forty patients with an initial diagnosis of FMF were enrolled in the study. DNA was extracted from the peripheral blood according to the kit protocol. Twenty-two target sequences of the MEFV gene were amplified with polimeraze chain reaction and sequenced with the pyrosequencing method. Results: When the patients were divided into two groups according to age, the mean age of 866 patients was 8.5±7.5 years in <18 age group, and that of 974 patients was 35.4±12.5 years in ≥18 age group. No mutations associated with FMF were found in 547 of patients in <18 age and 479 of the patients in ≥18 age groups. Conclusion: In the present study, we evaluated the frequency of 22 mutations in MEFV in 1840 patients, who had been admitted to the medical genetics division between the years 2014 and 2016 with an initial diagnosis of FMF. Analysis of our findings showed that our data are in agreement with previous publications concerning Turkish population. [ABSTRACT FROM AUTHOR]

Objective: To identify the well-known common translocations and FLT3 mutations in childhood acute myelogenous leukemia (AML) patients in Turkey. Material and Methods: The study included 50 newly diagnosed patients in which t(15;17), t(8;21), and inv(16) chromosomal translocations were identified using real-time PCR and FLT3 gene mutations were identified via direct PCR amplification PCR-RE analysis. Results: in all, t(15;17) chromosomal aberrations were observed in 4 patients (8.0%), t(8;21) chromosomal aberrations were observed in 12 patients (24.0%), inv(16) chromosomal aberrations were observed in 3 patients (6.0%), and FLT3-ITD mutations were observed in 2 patients (4.0%); FLT3-D835 point mutation heterozygosity was observed in only 1 patient (2.0%) patient. Conclusion: Despite of the known literature, a patient with FLT3-ITD and FLT3-D835 double mutation shows a better survival and this might be due to the complementation effect of the t(15;17) translocation. The reported mutation rate in this article (4%) of FLT3 gene seems to be one of the first results for Turkish population. [ABSTRACT FROM AUTHOR]

Objective: The scavenger receptor class B type 1 (SR-BI, SCARB1), which is a high-density lipoprotein (HDL) receptor that mediates selective cholesteryl ester uptake, plays an important role in reverse cholesterol transport. This study investigated the distribution of polymorphic variants of the SR-BI gene in patients with coronary heart disease (CHD) with a history of early myocardial infarction (MI) at an early age and their effects on their serum lipid levels., Methods: SR-BI rs5888(T>C), rs4238001(C>T), and rs10846744(G>C) were analyzed in 100 male patients with CHD with a history of MI (MI+) who were younger than 50 years and 89 male control subjects without MI history (MI-) using real-time polymerase chain reaction (PCR) and mutant-allele-specific PCR techniques., Results: SR-BI rs4238001 common-CC genotype was found to be more frequent in patients with MI+ than in control subjects (MI-; odds ratio 4.046, p<0.001). The rs10846744 rare-C allele showed a significant association with increased total cholesterol (p=0.014) and triglyceride (p=0.009) levels in the MI+ CHD group. Logistic regression analysis confirmed that there may be an association between the rs4238001-CC genotype (p=0.002), smoking (p=0.026), and MI+ CHD in the presence of other risk factors associated with CHD, whereas haplotype analysis confirmed that patients with MI+ CHD (rs5888-C, rs10846744-G, and rs4238001-C alleles) and CCC (rs5888-C, rs10846744-C, and rs4238001-C alleles) haplotypes were highly frequent (p<0.01 and p=0.027, respectively)., Conclusion: These results indicated that SR-BI gene variants show different distribution in patients with MI+ CHD compared with that in MI- control subjects, and these variants may have effects in favor of dyslipidemia.

Background: This study aims to investigate the possible relationships between epidermal growth factor receptor gene mutations, serum epidermal growth factor receptor levels, programmed death ligand gene expression levels and the risks and survivals of resectable nonsmall cell lung cancer patients., Methods: Deoxyribonucleic acid isolation was performed from peripheral blood samples and tumor tissues. The mutation analysis was performed for epidermal growth factor receptor. Programmed death ligand 1 gene expression levels were examined pathologically and histopathologically following the tissue tracing of 36 non-small cell lung cancer patients (29 males, 7 females; mean age 60.1 years; range, 41 to 79 years) and analyzed using real-time polymerase chain reaction. Epidermal growth factor receptor serum levels were assessed in all patients., Results: As a result of mutation analyses in 21 patients (28.5% of all adenocarcinoma patients), epidermal growth factor receptor mutation was determined in at least one exon in six patients. In epidermal growth factor receptor mutation detected patients, programmed death ligand 1 gene expression levels were associated with lymph node metastasis (p=0.036). However, epidermal growth factor receptor mutations were not statistically significantly associated according to histopathological examination (p>0.05). Of patients carrying exon 20 (c.2303G>T) mutations, 25% had tumors with perineural invasion. There was a statistically significant association between exon 20 insertions and c.2303G>T and lymphatic invasion (p=0.02), lymph node metastasis and exon 20 insertions (p=0.03). Patients with lower serum epidermal growth factor receptor levels (<400 pg/mL) had better survival time than those with higher serum epidermal growth factor receptor levels (p=0.04)., Conclusion: Programmed death ligand 1 gene expression and epidermal growth factor receptor mutation might have a combined effect on non-small cell lung cancer. Programmed death ligand 1 gene expression in tumor pathology may also be a significant feature for tumor progression and tumorigenesis. Serum epidermal growth factor receptor levels seem to be associated with survival., Competing Interests: Conflict of Interest: The authors declared no conflicts of interest with respect to the authorship and/or publication of this article., (Copyright © 2018, Turkish Society of Cardiovascular Surgery.)