Search results for "defect"

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

2016

International audience; The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvula…

Nonlinear trade-offs allow the cooperation game to evolve from Prisoner's Dilemma to Snowdrift.

2017

[EN] The existence of cooperation, or the production of public goods, is an evolutionary problem. Cooperation is not favoured because the Prisoner s Dilemma (PD) game drives cooperators to extinction. We have re-analysed this problem by using RNA viruses to motivate a model for the evolution of cooperation. Gene products are the public goods and group size is the number of virions co-infecting the same host cell. Our results show that if the trade-off between replication and production of gene products is linear, PD is observed. However, if the trade-off is nonlinear, the viruses evolve into separate lineages of ultra-defectors and ultra-cooperators as group size is increased. The nonlinear…

2017

Recurrent infections are common complications in patients with non-Hodgkin lymphomas, for example, chronic lymphocytic leukemia (CLL). The secondary immune defect as the underlying cause of frequent infections is in part due to hypoimmunoglobulinemia or diminished T- and B-cell responses suppressing

Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA G…

2020

Background: Congenital heart defects (CHDs) are present in about 40&ndash

Effects of innovative and conventional sanitizing treatments on the reduction of Saccharomycopsis fibuligera defects on industrial durum wheat bread

2016

Wickerhamomyces anomalus, Hyphopichia burtonii and Saccharomycopsis fibuligera are spoilage yeasts causing chalk mold defects on sliced bread packaged under modified atmosphere. The first objective of this study, carried out in a bread-making company for two consecutive years, was to genetically identify yeasts isolated from spoiled sliced bread in Modified Atmosphere Packaging (MAP) and to determine the dominant species among identified strains. The second objective was to evaluate the effects of hydrogen peroxide and silver solution 12% (HPS) treatment in the leavening cells and cooling chambers, in comparison with the conventional Ortho-Phenylphenol (OPP) fumigating treatment, on the inc…

Advance on Resveratrol Application in Bone Regeneration: Progress and Perspectives for Use in Oral and Maxillofacial Surgery

2019

The natural polyphenol Resveratrol (RSV) claims numerous positive effects on health due to the well documented biological effects demonstrating its potential as a disease-preventing agent and as adjuvant for treatment of a wide variety of chronic diseases. Since several studies, both in vitro and in vivo, have highlighted the protective bone aptitude of RSV both as promoter of osteoblasts’ proliferation and antagonist of osteoclasts’ differentiation, they could be interesting in view of applications in the field of dentistry and maxillofacial surgery. This review has brought together experimental findings on the use of RSV in the regeneration of bone tissue comprising also its application a…

Dysregulation of C-X-C motif ligand 10 during aging and association with cognitive performance

2017

International audience; Chronic low-grade inflammation during aging (inflammaging) is associated with cognitive decline and neurodegeneration; however, the mechanisms underlying inflammaging are unclear. We studied a population (n = 361) of healthy young and old adults from the MyoAge cohort. Peripheral levels of C-X-C motif chemokine ligand 10 (CXCL10) was found to be higher in older adults, compared with young, and negatively associated with working memory performance. This coincided with an age-related reduction in blood DNA methylation at specific CpGs within the CXCL10 gene promoter. In vitro analysis supported the role of DNA methylation in regulating CXCL10 transcription. A polymorph…

In Vivo Cardiotoxicity Induced by Sodium Aescinate in Zebrafish Larvae

2016

Sodium aescinate (SA) is a widely-applied triterpene saponin product derived from horse chestnut seeds, possessing vasoactive and organ-protective activities with oral or injection administration in the clinic. To date, no toxicity or adverse events in SA have been reported, by using routine models (in vivo or in vitro), which are insufficient to predict all aspects of its pharmacological and toxicological actions. In this study, taking advantage of transparent zebrafish larvae (Danio rerio), we evaluated cardiovascular toxicity of SA at doses of 1/10 MNLC, 1/3 MNLC, MNLC and LC10 by yolk sac microinjection. The qualitative and quantitative cardiotoxicity in zebrafish was assessed at 48 h p…

Influence of the drawing process on the defect generation in multistep-index germanium-doped optical fibers

2009

International audience; Variation of germanium lone pair center (GLPC) concentration in germanosilicate multistep-index optical fibers and preforms was studied using confocal microscopy luminescence technique. The experimental results provide evidence that in the central core region ([Ge] ~11 wt. % ) of our specific canonical samples the ratio [GLPC]/[Ge] is five times larger in fiber than in preforms. The relative influence of the glass composition and of the drawing process on the generation efficiency of the GLPC defects that drive the glass photosensitivity is discussed. The radial distribution of these defects suggests a possible enhancement of the defect creation related to the intern…

2D size, position and shape definition of defects by B-scan image analysis

2015

The non-destructive evaluation of defects by automatic procedures is of great importance for structural components. Thanks to the developments of the non-contact ultrasonic techniques, the automation of the inspections is gaining a progressively important role. In this work, an automatic inspection technique for the evaluation of defects by the analysis of B-scan images obtained by a laser ultrasonic system is presented. The data are extracted directly from a B-scan map obtained for a panel with internal defects, and are used to build an image of the cross section of the panel. The proposed automatic procedure allows the definition of size, position and shape of defects in panels of known t…