Bartsch O.,Johannes Gutenberg University Mainz |
Kirmes I.,Johannes Gutenberg University Mainz |
Thiede A.,Johannes Gutenberg University Mainz |
Lechno S.,Johannes Gutenberg University Mainz |
And 4 more authors.
Molecular Syndromology | Year: 2012
Neural tube defects (NTDs) are a group of congenital malformations of the central nervous system occurring at an average rate of 1 per 1,000 human pregnancies worldwide. Numerous genetic and environmental factors are discussed to be relevant in their etiology. In mice, mutants in >200 genes including the planar cell polarity (PCP) pathway are known to cause NTDs, and recently, heterozygous mutations in the human VANGL1 gene have been described in a small subset of patients with NTDs. We performed a VANGL1 mutation analysis in 144 unrelated individuals with NTDs from Slovakia, Romania and Germany and identified 3 heterozygous missense mutations: c.613G>A (p.Gly205Arg) with an open spina bifida (lumbosacral meningomyelocele), c.557G>A (p.Arg186His) with a closed spina bifida (tethered cord and spinal lipoma) and c.518G>A (p.Arg173His) with an unknown NTD. The c.613G>A mutation was also found in a healthy sibling. None of the mutations were described previously. Findings support that heterozygous VANGL1 mutations represent hypomorphs or conditional mutants predisposing to NTDs and occur at a frequency of approximately 2.1% of open and closed spinal NTDs. The mutations (p.Arg173His, p.Arg186His, p.Gly205Arg) modified conserved regions of the VANGL1 protein and shared similarities with previously described mutants, providing further evidence for the presence of mutational hot spots in these patients. Copyright © 2012 S. Karger AG, Basel.
Matei O.,Technical University of Cluj Napoca |
Contras D.,University of Cluj Napoca |
Pop P.,Technical University of Cluj Napoca
Proceedings of the 2014 IEEE Congress on Evolutionary Computation, CEC 2014 | Year: 2014
In this paper, we describe a novel application of evolutionary computation, namely for evolving ontologies. The general algorithm of evolutionary ontologies follow roughly the same guidelines as any other genetic algorithms. However, we introduced a new genetic operator, called repair, which is needed in order to make the offspring viable. Experiments for the generation of user centered automatically generated scenes demonstrate the performance of the proposed approach. © 2014 IEEE.
Sun Q.,National University of Singapore |
Pop I.,University of Cluj Napoca
International Journal of Numerical Methods for Heat and Fluid Flow | Year: 2014
Purpose - Steady-state free convection heat transfer and fluid flow of Cu-water nanofluid is investigated within a porous tilted right-angle triangular enclosure. The paper aims to discuss these issues. Design/methodology/approach - The flush mounted heater with finite size is placed on one right-angle wall. The temperature of the inclined wall is lower than the heater, and the rest of walls are adiabatic. The governing equations are obtained based on the Darcy's law, and the nanofluid model adopted is that by Tiwari and Das. The transformed dimensionless governing equations were solved numerically by finite difference method, and the solution for algebraic equations was obtained through successive under relaxation method. Findings - Investigations were made as the tilted angle of the cavity varies within under different values of Rayleigh number for a porous medium with and solid volume fraction parameter of Cu-water nanofluid with. It is found that the maximum value of the average Nusselt number is achieved with the highest Rayleigh number when the tilted angle of the cavity is 150°, while the minimum value of the average Nusselt number is obtained with the lowest Rayleigh number when the tilted angle of the cavity locates at 240°. As soon as the flow convection in the cavity is not significant, increasing can improve the value of, but opposite effects appear when flow convection becomes stronger. Originality/value - The present results are new and original for the heat transfer and fluid flow in a porous tilted triangle enclosure filled by Cu-water nanofluid. The results would benefit scientists and engineers to become familiar with the flow behaviour of such nanofluids, and the way to predict the properties of this flow for possibility of using nanofluids in advanced nuclear systems, in industrial sectors including transportation, power generation, chemical sectors, ventilation, air-conditioning, etc. Copyright © 2014 Emerald Group Publishing Limited. All rights reserved.
Beyer R.,University of Cluj Napoca |
Flachskampf F.A.,Uppsala University
Journal of Cardiovascular Echography | Year: 2012
Objectives: The simultaneous presence of substantial regurgitation of both the aortic and the mitral valve imposes a massive volume load and, due to the aortic regurgitation, a pressure load on the left ventricle. This condition usually is caused by primary aortic regurgitation and concomitant functional mitral regurgitation due to left ventricular enlargement, but lesions can also be primary in both valves, as in endocarditis, carcinoid disease, or due to the cardiotoxicity of appetite-depressant drugs. Because dilatation of the left ventricle caused by chronic aortic regurgitation mostly is not fully reversible by aortic valve surgery, it is unlikely that severe or moderate mitral regurgitation will regress significantly after aortic valve surgery alone. In such cases, simultaneous repair of a severely regurgitant mitral valve is recommended by the guidelines, but the recommendation should probably be extended to moderate mitral regurgitation too. Conclusion: In treating combined aortic and mitral regurgitation, the incomplete reversibility of left ventricular dilatation due to aortic regurgitation should be kept in mind. If indications for aortic valve replacement are fulfilled, concomitant mitral valve repair should be strongly considered. © 2012 Published by Elsevier Srl. on behalf of Societa' Italiana di Ecografia Cardiovascolare.
Ndjole A.M.,Uppsala University Hospital |
Bodolea C.,University of Cluj Napoca |
Nilsen T.,Gentian AS |
Gordh T.,Uppsala University Hospital |
And 2 more authors.
Journal of Immunological Methods | Year: 2010
Background: Human cystatin C is a cysteine protease inhibitor produced by all nucleated cells in the body and the protein is present in all body fluids. The concentration in cerebrospinal fluid (CSF) is considerably higher than in plasma. Cystatin C levels seem to influence the development of Alzheimer disease (AD) and low levels in the brain are associated with an increased risk for AD. The aim of this study was to develop a high throughput assay for the quantification of cystatin C in CSF. Methods: Antigen excess, imprecision, interference, linearity, recovery, sample stability and reference values were evaluated on Architect ci8200 (Abbott Laboratories, Abbott Park, IL, USA). Results: The assay had an antigen-excess limit at 23. mg/L and was linear over the range of 0.84 to 8.33. mg/L. Results > 8.33. mg/L were automatically rerun in a higher dilution. Within-run coefficient of variation (CV) was 1.71, 1.10 and 0.79%, between day CV was 1.71, 0.39 and 1.45%, between-run CV was 0.58, 0.66 and 0.48%, and total CV was 2.49, 1.34 and 1.72% at cystatin C concentrations of 1.39, 3.17 and 6.28. mg/L, respectively. The recovery was 97-102%. No interference at a 7.5% deviation level was observed for 8.5. g/L of hemoglobin or 800. mg/L (1368 μmol/L) of bilirubin. Reference values for cystatin C in cerebrospinal fluid obtained with this method were 2.42-14.33. mg/L. © 2010 Elsevier B.V.