Evaluation of FMR1 gene mutations in Turkish women newly diagnosed with primary ovarian failure

Background: One of the known causes of ovarian dysfunction is fragile X mental retardation gene 1 (FMR1) premutation. The prevalence of FMR1 premutation in primary ovarian failure (POF) cases may differ between the studies due to some reasons including POF definition, definition of premutation, and determination of study population, ethnicity, genetic and environmental factors. In this study authors aimed to determine the prevalence of FMR1 mutations in patients who applied to present clinic and diagnosed as POF.Methods: This retrospective cohort study was conducted on 200 women who had been newly diagnosed with POF in present clinic between 2013 and 2014. The presence of cytogenetic fragility was firstly investigated in all patients by using the lymphocyte culture method, and molecular analysis of the FMR1 gene was then performed. Genomic DNA’s of cases were isolated using standard protocols, followed by polymerase chain reaction amplification with an appropriate program. Fragment analysis of the amplification products were performed by agarose gel electrophoresis.Results: Cytogenetic analysis results in 200 cases were numerically and structurally normal in all patients, and as a result of molecular genetic analysis of FMR1 gene; 1 (0.5%) patient had complete mutation and 9 (4.5%) patients had premutation carriage.Conclusions: FMR1 gene mutations are common in women with POF. These mutations should be investigated in all patients presenting with POF, particularly in cases with early onset and family history of POF, and also genetic counseling should be given to those patients

The value of Tc-99m tetrofosmin in the imaging of pituitary adenomas

Aim: Magnetic resonance imaging (MRI) and computerized tomography (CT) are used in the diagnosis and follow-up of pituitary adenoma cases. Sometimes, these methods cannot display the post-operative residual tissue. It has been shown that some radionuclides were taken up by the pituitary adenomas. The aim of this study was to evaluate the uptake of the technetium-99m (Tc-99m) tetrofosmin (TF) in the pituitary adenoma and normal pituitary tissue and assess the ability of Tc-99m TF to predict tumor malignancy in pituitary gland. Methods: The patients with pituitary adenoma (7 invasive and 8 non-invasive) were compared with control group (no. 13). Single-photon emission computed tomography (SPECT) imaging of pituitary gland was performed in both groups. Tc-99m uptake indices were evaluated statistically with the use of Mann-Whitney U test. Results: The average tetrofosmin uptake index of pituitary adenoma is 2.44 +/- 1.54 for the patients and 1.69 +/- 0.71 for the control group. Any significant difference was not observed between the groups (p 0.3). The average index was calculated as 3.04 +/- 2.15 for invasive adenomas and 1.92 +/- 0.33 for the non-invasive group, and there was no significant difference between the two groups regarding uptake of the agent (p 0.53). Furthermore, it was determined that the invasive and non-invasive adenomas displayed an uptake of Tc-99m TF similar to normal pituitary tissue. Conclusions: Since the pituitary adenoma and normal pituitary tissue gave similar results regarding Tc-99m TF uptake, it was concluded that this agent would not be useful in the diagnosis of pituitary adenoma

A novel classification method for driving simulators based on existing flight simulator classification standards

As technology has advanced and costs have fallen, the advantages of using simulators to train for safe, economical, and environmentally friendly driving have become more apparent. The need for a driving simulator classification arises from understanding and comparing simulator capabilities and options; however, only a limited number of studies have been conducted related to classification, calling for determination of methods and criteria. In this study, a classification method for driving simulators is proposed by adapting criteria for helicopter flight simulation training devices in which established methods of classification are defined by international and national regulators such as the Joint Aviation Authorities and Federal Aviation Administration. In the proposed method, the level of a simulator is determined by taking general characteristics under consideration, such as motion, visual, and sound systems. Through a case study, the method was applied to determine the class of a specific truck simulator

Association between polymorphisms of DNA repair genes and risk of type 2 diabetes mellitus in the Turkish population

Objectives: DNA repair mechanisms work insufficiently in T2DM patients and hyperglycemia seen in diabetes disturbs the oxidant-antioxidant balance thus cause oxidative damage on DNA. The effects of the DNA repair genes' have not yet been investigated on diabetes. The aim of this study was to investigate the association between APE1 Asp148Glu and XPG Asp1104His polymorphisms with T2DM in the Turkish population

Association between polymorphisms of DNA repair genes and risk of type 2 diabetes mellitus in the Turkish population

Objectives: DNA repair mechanisms work insufficiently in T2DM patients and hyperglycemia seen in diabetes disturbs the oxidant-antioxidant balance thus cause oxidative damage on DNA. The effects of the DNA repair genes' have not yet been investigated on diabetes. The aim of this study was to investigate the association between APE1 Asp148Glu and XPG Asp1104His polymorphisms with T2DM in the Turkish population

A novel classification method for driving simulators based on existing flight simulator classification standards

As technology has advanced and costs have fallen, the advantages of using simulators to train for safe, economical, and environmentally friendly driving have become more apparent. The need for a driving simulator classification arises from understanding and comparing simulator capabilities and options; however, only a limited number of studies have been conducted related to classification, calling for determination of methods and criteria. In this study, a classification method for driving simulators is proposed by adapting criteria for helicopter flight simulation training devices in which established methods of classification are defined by international and national regulators such as the Joint Aviation Authorities and Federal Aviation Administration. In the proposed method, the level of a simulator is determined by taking general characteristics under consideration, such as motion, visual, and sound systems. Through a case study, the method was applied to determine the class of a specific truck simulator