Lipid and fatty acid composition during embryo and larval development of puye Galaxias maculatus Jenyns, 1842, obtained from estuarine, freshwater and cultured populations

Galaxias maculatus eggs and larvae obtained from broodfish captured either in an estuarine or a freshwater environment, as well as from cultured broodstock were analysed to compare their lipid and fatty acid profiles. Results showed a lower lipid content in embryos and larvae from estuarine populations than those from fresh water, denoting the influence of environmental conditions. The n-3:n-6 ratio was higher in eggs from estuarine and cultured populations, being in the range of marine fishes, whereas for eggs from freshwater fish was lower and typical of freshwater fishes. The polyunsaturated fatty acids (PUFA), particularly docosahexaenoic acid (22:6n-3) and eicosapentaenoic acid (20:5n-3), were higher in eggs and larvae of broodstock coming from culture or estuarine environments than in those from fresh water. Moreover, these fatty acids markedly increased after hatching in larvae coming from estuarine populations, suggesting the effect of the environment on fatty acid profiles to physiologically prepare the larvae to adapt to higher salinity conditions. Linoleic acid (18:2n-6) content was higher in fresh water fish and its reduction during embryo and larval development was accompanied by a significant increase of arachidonic acid (20:4n-6), which was not observed in embryos or larvae from broodstock fish from estuary or aquaculture origin. Both environment and diet of broodstock fish affected lipid and fatty acid composition of G. maculatus embryo and larvae as well as their changes during development

Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies : an exome-based case-control study

Background Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in genetic generalised epilepsy. Methods For this exome-based case-control study, we used three different genetic generalised epilepsy case cohorts and three independent control cohorts, all of European descent. Cases included in the study were clinically evaluated for genetic generalised epilepsy. Whole-exome sequencing was done for the discovery case cohort, a validation case cohort, and two independent control cohorts. The replication case cohort underwent targeted next-generation sequencing of the 19 known genes encoding subunits of GABA(A) receptors and was compared to the respective GABA(A) receptor variants of a third independent control cohort. Functional investigations were done with automated two-microelectrode voltage clamping in Xenopus laevis oocytes. Findings Statistical comparison of 152 familial index cases with genetic generalised epilepsy in the discovery cohort to 549 ethnically matched controls suggested an enrichment of rare missense (Nonsyn) variants in the ensemble of 19 genes encoding GABA(A) receptors in cases (odds ratio [OR] 2.40 [95% CI 1.41-4.10]; p(Nonsyn)=0.0014, adjusted p(Nonsyn)=0.019). Enrichment for these genes was validated in a whole-exome sequencing cohort of 357 sporadic and familial genetic generalised epilepsy cases and 1485 independent controls (OR 1.46 [95% CI 1.05-2.03]; p(Nonsyn)=0.0081, adjusted p(Nonsyn)=0.016). Comparison of genes encoding GABA(A) receptors in the independent replication cohort of 583 familial and sporadic genetic generalised epilepsy index cases, based on candidate-gene panel sequencing, with a third independent control cohort of 635 controls confirmed the overall enrichment of rare missense variants for 15 GABA(A) receptor genes in cases compared with controls (OR 1.46 [95% CI 1.02-2.08]; p(Nonsyn)=0.013, adjusted p(Nonsyn)=0.027). Functional studies for two selected genes (GABRB2 and GABRA5) showed significant loss-of-function effects with reduced current amplitudes in four of seven tested variants compared with wild-type receptors. Interpretation Functionally relevant variants in genes encoding GABA(A) receptor subunits constitute a significant risk factor for genetic generalised epilepsy. Examination of the role of specific gene groups and pathways can disentangle the complex genetic architecture of genetic generalised epilepsy. Copyright (C) 2018 The Author(s). Published by Elsevier Ltd.Peer reviewe

Evaluation of hillock-like deposition behaviour of HVOF thermal spray coatings using rotary shutter procedure

Evaluation of hillock-like deposition behaviour of WC/Co coatings was performed using a rotary shutter procedure coupled with 100 passes of high velocity oxy fuel thermal spraying. During the spraying procedure, a DPV 2000 in situ diagnostic instrument was used to monitor the temperature and velocity of inflight particles. The microstructure of the coatings was analysed using an optical microscope to monitor the porosity and thickness distributions at various positions of the hillock-like coatings. A 7(.)1% porosity was observed at the centre of the hillock-like coatings, and a 10% porosity was observed at the edge, each at a spraying distance of 200 mm. The centre area of hillock-like coatings exhibited almost a 30% decrease in porosity compared to the edge area. The results indicate a higher quality structure at the centre area of the hillock-like coatings

Adaptive Tunning of All Parameters in a Multi- Swarm Particle Swarm Optimization Algorithm : An Application to the Probabilistic Traveling Salesman Problem

One of the main issues in the application of a Particle SwarmOptimization (PSO) algorithm and of every evolutionary opti-mization algorithm is the finding of the suitable parameters ofthe algorithm. In this paper, we use a parameter free version of aMulti-Swarm PSO algorithm where random values are assignedin the initialization of all parameters (including the number ofswarms) of the algorithm and, then, during the iterations theparameters are optimized together and simultaneously with theoptimization of the objective function of the problem. This ideais used for the solution of the Probabilistic Traveling SalesmanProblem (PTSP). The PTSP is a variation of the classic Trav-eling Salesman Problem (TSP) and one of the most significantstochastic routing problems. In the PTSP, only a subset of poten-tial customers needs to be visited on any given instance of theproblem. The number of customers to be visited each time is arandom variable. The proposed algorithm is tested on numer-ous benchmark problems from TSPLIB with very satisfactoryresults. It is compared with other algorithms from the literature,and, mainly with a Multi-Swarm Particle Swarm Optimizationwith parameters calculated with a classic trial - and - error pro-cedure and they are the same for all instances.Godkänd; 2014; 20141124 (athmig