34 research outputs found

    Early assessment of percutaneous coronary interventions for chronic total occlusions analyzed by novel echocardiographic techniques

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    OBJECTIVE: Successful revascularization of chronic total occlusions has been associated with improved left ventricular systolic function, reduced anginal symptoms, increased exercise capacity, and increased survival. This study was conducted to determine the impact of revascularization in chronic total occlusion on left ventricular function using novel echocardiographic techniques. METHODS: A total of 129 patients with chronic total occlusion who underwent revascularization between April 2011 and November 2012 were included in this study. Echocardiographic assessments with two-dimensional speckle tracking echocardiography and real-time three-dimensional echocardiography were performed before the procedure and one month after the procedure. The left ventricular ejection fraction, left ventricular volumes, and three-dimensional systolic dyssynchrony index were quantified. RESULTS: An immediate procedural success was obtained in 118 patients (91.5%). There were no acute or subacute stent thromboses during follow-up. The mean left ventricular ejection fraction significantly increased (

    Identification of candidate genes in a family with cancer overload by whole-exome sequencing

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    Background. Approximately 120 out of every 1 million children in the world develop cancer each year. In Turkey, 2500-3000 children are diagnosed with new cancer each year. The causes of childhood cancer have been studied for many years. It is known that many cancers in children, as in adults, cause uncontrolled cell growth, and develop as a result of mutations in genes that cause cancer. Methods. The investigation of family history within this context in the study, a total of 13 individuals consisting of all children and adults in the family were examined using the whole-exome sequencing (WES) with the individuals who were diagnosed with cancer in the family, who were detected to have different cancer profiles, and defined as high risk and to determine the gene or genes through which the disease has developed. Results. At the end of the study, a total of 30 variants with a pathogenic record in the family were identified. A total of 10 pathogenic variants belonging to 8 different genes from these variants have been associated with various cancer risks. Conclusions. A significant scientific contribution has been made to the mechanism of disease formation by studying a family with a high cancer burden and by finding the genes associated with the disease. In addition, by the results obtained, family members with cancer predisposition were selected after a risk analysis conducted in this family, and the necessary examinations and scans were recommended to provide an early diagnostic advantage. © 2022, Turkish National Pediatric Society. All rights reserved

    Inactivating KISS1 mutation and hypogonadotropic hypogonadism

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    Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. However, human kisspeptin loss-of-function mutations have not been described, and contradictory findings have been reported in Kiss1-knockout mice. We describe an inactivating mutation in KISS1 in a large consanguineous family that results in failure of pubertal progression, indicating that functional kisspeptin is important for puberty and reproduction in humans. (Funded by the Scientific and Technological Research Council of Turkey [TÜBİTAK] and others.)http://www.nejm.org/nf201

    Contribution of Na+, HCO3-/Cl- exchanger activity on recovery from induced-acidosis in oocyte, zygote and embryo of Balb/c strain mouse.

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    40th Annual Meeting of the Society-for-the-Study-of-Reproduction -- JUL 21-25, 2007 -- San Antonio, TXWOS: 000248002500130…Soc Study Repro

    Intracellular Levels of Reactive Oxygen Species In Developing Mouse Embryos.

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    42nd Annual Meeting of the Society-for-the-Study-of-Reproduction -- JUL 18-22, 2009 -- Pittsburgh, PAWOS: 000273605500229…Soc Study Reproduct, David L Lawrence Convent Ct

    Health hazards due to the exposure to radon in schools of the Cappadocia region

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    This study presents the results of a survey of radon concentrations in schools (kindergartens, primary schools, secondary schools, high schools, colleges, and one faculty) located in the province of Nevsehir which is the center of the Cappadocia region. Radon measurements covered two consecutive 6-month periods in the ground floor classrooms inside the school buildings and they were performed using a continuous active radon detector (AlphaGUARD PQ2000 PRO). Data distribution is well fitted by a log-normal curve. The arithmetic average value of the radon concentrations measured in summer and winter was found as 75 ± 12 Bqm-3 and 67 ± 10 Bqm-3, respectively. From the measured results, the effective doses from radon exposures in summer and winter were estimated as 0.27 and 0.40 mSv and 0.24 and 0.36 mSv for students and teachers, respectively. The results showed that radon concentration measured in schools does not pose significant health hazards for students and teachers

    THE EFFECTS OF AEROBIC EXERCISE ON SKELETAL MUSCLE METABOLISM, MORPHOLOGY AND IN SITU ENDURANCE IN DIABETIC RATS

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    The effects of aerobic exercise training on skeletal muscle endurance capacity were examined in diabetic rats in situ. Moderate diabetes was induced by iv injection of streptozotocin and an exercise training program on a treadmill was carried out for 8 weeks. The animals randomly assigned to one of the four experimental groups: control-sedentary (CS), control-exercise (CE), diabetic-sedentary (DS) or diabetic-exercise (DE). The changes in the muscle endurance capacity were evaluated through the square wave impulses (supramaximal) of 0.2-ms duration at 1 Hz in the in situ gastrocnemius-soleus muscle complex. Muscle was stimulated continuously until tension development reduced to the half of this maximal value. Time interval between the beginning and the end of stimulation period is defined as contraction duration. Following the training period, blood glucose level reduced significantly in the DE group compared to DS group (p < 0.05). The soles muscle citrate synthase activity was increased significantly in both of the trained groups compared to sedentary animals (p < 0.05). Fatigued muscle lactate values were not significantly different from each other. Ultrastractural abnormality of the skeletal muscle in DS group disappeared with training. Presence of increased lipid droplets, mitochondria clusters and glycogen accumulation was observed in the skeletal muscle of DE group. The contraction duration was longer in the DE group than others (p < 0.001). Fatigue resistance of exercised diabetic animals may be explained by increased intramyocellular lipid droplets, high blood glucose level and muscle citrate synthase activit

    Genome-wide methylation profiles in monozygotic twins with discordance for ovarian carcinoma

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    Ovarian cancer is a disease that is generally diagnosed at an advanced stage, and has poor survival. Monozygotic (MZ) twins are considered to be good research models for investigating the epigenetic changes associated with diseases. In the present study, the involvement of epigenetic mechanisms in ovarian cancer etiology were evaluated using the MZ twin model. Whole-genome methylation patterns were investigated in a BRCA1 gene mutation-carrying family comprising MZ twins, only one of whom had ovarian cancer, and other healthy siblings. Whole-genome methylation patterns were assessed in peripheral blood DNA using Infinium MethylationEPIC BeadChips on an Illumina iScan device. The hypermethylated and hypomethylated genes were detected between cases and controls in four different comparison groups in order to evaluate the differences in methylation levels according to cancer diagnosis and BRCA mutation status. The obtained results showed that the differential methylations in 12 different genes, namely PR/SET domain 6, cytochrome B5 reductase 4, ZNF714, OR52M1, SEMA4D, CHD1L, CAPZB, clustered mitochondria homolog, RB-binding protein 7, chromatin repair factor, ankyrin repeat domain 23, RIB43A domain with coiled-coils 1 and C6orf227, were associated with ovarian cancer. Biological functional analysis of the genes detected in the study using the PANTHER classification system revealed that they have roles in biological processes including 'biologic adhesion', 'regulation', 'cellular components organization', 'biogenesis', 'immune system functioning', 'metabolic functioning' and 'localization'. Overall, the present study suggested that epigenetic differences, such as methylation status, could be used as a non-invasive biological markers for the early diagnosis and follow-up of ovarian cancer

    Inactivating <em>KISS1</em> mutation and hypogonadotropic hypogonadism

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    Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. However, human kisspeptin loss-of-function mutations have not been described, and contradictory findings have been reported in Kiss1-knockout mice. We describe an inactivating mutation in KISS1 in a large consanguineous family that results in failure of pubertal progression, indicating that functional kisspeptin is important for puberty and reproduction in humans
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