983 resultados para genetic testing
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This is a study of a state of the art implementation of a new computer integrated testing (CIT) facility within a company that designs and manufactures transport refrigeration systems. The aim was to use state of the art hardware, software and planning procedures in the design and implementation of three CIT systems. Typical CIT system components include data acquisition (DAQ) equipment, application and analysis software, communication devices, computer-based instrumentation and computer technology. It is shown that the introduction of computer technology into the area of testing can have a major effect on such issues as efficiency, flexibility, data accuracy, test quality, data integrity and much more. Findings reaffirm how the overall area of computer integration continues to benefit any organisation, but with more recent advances in computer technology, communication methods and software capabilities, less expensive more sophisticated test solutions are now possible. This allows more organisations to benefit from the many advantages associated with CIT. Examples of computer integration test set-ups and the benefits associated with computer integration have been discussed.
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Magdeburg, Univ., Fak. für Naturwiss., Diss., 2012
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AbstractBackground:Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy.Objective:To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy.Methods:The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m2 for women or ≥ 116 g/m2 for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased.Results:A total of 47 patients with a mean left ventricular mass index of 141.1 g/m2 (± 28.5; 99.2 to 228.5 g/m2] were included. Most of the patients were females (51.1%). Nine (19.1%) showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5), a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation.Conclusion:In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5).
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Abstract Background: Configuration of the abdominal aorta is related to healthy aging and a variety of disorders. Objectives: We aimed to assess heritable and environmental effects on the abdominal aortic diameter. Methods: 114 adult (69 monozygotic, 45 same-sex dizygotic) twin pairs (mean age 43.6 ± 16.3 years) underwent abdominal ultrasound with Esaote MyLab 70X ultrasound machine to visualize the abdominal aorta below the level of the origin of the renal arteries and 1-3 cm above the bifurcation. Results: Age- and sex-adjusted heritability of the abdominal aortic diameter below the level of the origin of the renal arteries was 40% [95% confidence interval (CI), 14 to 67%] and 55% above the aortic bifurcation (95% CI, 45 to 70%). None of the aortic diameters showed common environmental effects, but unshared environmental effects were responsible for 60% and 45% of the traits, respectively. Conclusions: Our analysis documents the moderate heritability and its segment-specific difference of the abdominal aortic diameter. The moderate part of variance was explained by unshared environmental components, emphasizing the importance of lifestyle factors in primary prevention. Further studies in this field may guide future gene-mapping efforts and investigate specific lifestyle factors to prevent abdominal aortic dilatation and its complications.
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Abstract ST2 is a member of the interleukin-1 receptor family biomarker and circulating soluble ST2 concentrations are believed to reflect cardiovascular stress and fibrosis. Recent studies have demonstrated soluble ST2 to be a strong predictor of cardiovascular outcomes in both chronic and acute heart failure. It is a new biomarker that meets all required criteria for a useful biomarker. Of note, it adds information to natriuretic peptides (NPs) and some studies have shown it is even superior in terms of risk stratification. Since the introduction of NPs, this has been the most promising biomarker in the field of heart failure and might be particularly useful as therapy guide.
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This work describes a test tool that allows to make performance tests of different end-to-end available bandwidth estimation algorithms along with their different implementations. The goal of such tests is to find the best-performing algorithm and its implementation and use it in congestion control mechanism for high-performance reliable transport protocols. The main idea of this paper is to describe the options which provide available bandwidth estimation mechanism for highspeed data transport protocols and to develop basic functionality of such test tool with which it will be possible to manage entities of test application on all involved testing hosts, aided by some middleware.
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Today, usability testing in the development of software and systems is essential. A stationary usability lab offers many different possibilities in the evaluation of usability, but it reaches its limits in terms of flexibility and the experimental conditions. Mobile usability studies consider consciously outside influences, and these studies require a specially adapted approach to preparation, implementation and evaluation. Using the example of a mobile eye tracking study the difficulties and the opportunities of mobile testing are considered.
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Magdeburg, Univ., Fak. für Verfahrens- und Systemtechnik, Diss., 2014
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Magdeburg, Univ., Med. Fak., Diss., 2014
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Genetic algorithms regarding to life cycle management of electrotechnical equipment are considered. The concept of “techno-individual” is introduced.
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Some practical aspects of Genetic algorithms’ implementation regarding to life cycle management of electrotechnical equipment are considered.
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v.26:no.1(1972)