PRICKLE1-related early onset epileptic encephalopathy

The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated with heterozygous mutations, agenesis of corpus callosum, polymicrogyria, and autistic spectrum disorder. Reported here is a young boy with a new variant (NM_153026.2:c.820G>A, p.Ala274Thr) presenting with an early infantile epileptic encephalopathy with developmental arrest

Batch fabrication of flowable colorimetric pressure sensing particles via surface micromachining

Journal ArticleThe batch fabrication and test of artificial optical resonator slab-type micro particles (14 μm diameter, 0.7 μm gap) is presented as a means to map absolute pressure within microscopic environments. The pressure-sensing particles consist of a semi-transparent elastic polysilicon shell enclosing a reference vacuum cavity. The optical resonance frequency and the corresponding external pressure can hence be interrogated optically via reflectivity measurements. We demonstrate the measurement of internal pressures between 0-20 psi within microfluidic environments

Les « brûleurs » de frontières dans la musique tunisienne : la migration non documentée au prisme de chansons de rap et de mezoued

Cet article propose une analyse des représentations des « brûleurs » de frontières, les migrants d'Afrique du Nord, dans la musique populaire tunisienne à partir d'un corpus constitué de cinquante-quatre chansons. Il mobilise la musique populaire tel un révélateur de l'imaginaire migratoire et de dynamiques sociales profondes. Après avoir exploré le contexte d'énonciation des chansons, l'article se structure autour des quatre thèmes prévalents : désirs migratoires, dangers de la traversée, souffrance de l'exilé et des siens, acceptation de la volonté divine. Cette analyse permet de conclure que, sans pouvoir être classées dans la musique révolutionnaire au sens classique du terme, les paroles des chansons sur la harga contiennent un potentiel de subversion important : voter avec ses pieds

Molecular characterization of the Sicilian goat populations

The Sicilian goats are characterized by a strong population admixture structure, caused by geographical location of the farms, influences of natural mating and traditional breeding systems where flock represents an important breeding unit. Nowadays, several local populations are reared in Sicily, some of which do not have a recognized defined genetic structure, having taken origin from several crosses between animals of different breeds/populations sharing the same environment. The aim of this work was to characterize the Sicilian autochthonous goat populations using microsatellite markers and genetic polymorphisms of casein gene

An exothermal energy release layer for microchip transience

pre-printA single layer nanothermite spin coated gel has been utilized as a solid-state exothermic energy release layer for triggered microchip transience. A proportional combination of self-assembled CuO/Al nanothermite and Napalm-B as gelling agent has been used to develop for the first time a spinable nanothermite film onto the surface of a micro-chip. This layer when ignited instantaneously releases enough heat energy to melt the surface of the underlying substrate and any surface-bound microdevices, electronic feature or any surface deposited component. We observe the effect of thermite enabled destruction prior and post ignition through microscopic imaging and electrical measurements on surface bound components

A combined genome-wide approach identifies a new potential candidate marker associated with the coat color sidedness in cattle

Coat color is one of the most important phenotypic features in livestock breeds. Cinisara is a local cattle breed generally of uniform black color which occasionally presents a particular phenotype, with animals typically display a white band along their spine, from the head to the tail, and on the ventral line (color sidedness). Therefore, this breed provides an ideal model to study the genetic components underlying phenotypic variation in coat color. A total of 63 animals, ten with sidedness phenotype and 53 with uniform black color were genotyped with Illumina Bovine 50 K. The comparison among genome-wide association study and FST analysis revealed a single nucleotide polymorphism (SNP), ARS-BFGL-NGS-55928, significantly associated with the trait. Only one gene (PLK2)was annotated near the associated SNP in a window of ±200 kb. The protein encoded by this gene is a member of the polo-like kinases, the same family of several known coat-color candidate genes. Based on the reported results, we draw the possible conclusion that the identified marker is potentially associated with the coat color sidedness in Cinisara. The local breeds with their genetic variability represent an important resource and model to study the genetic basis affecting peculiar traits. Future studies would be particularly relevant to refine these results and to better understand the genetic basis for this phenotype

Genome- wide analyses reveal population structure and identify candidate genes associated with tail fatness in local sheep from a semi- arid area

Under a climate change perspective, the genetic make-up of local livestock breeds showing adaptive traits should be explored and preserved as a priority. We used genotype data from the ovine 50 k Illumina BeadChip for assessing breed autozygosity based on runs of homozygosity (ROH) and fine-scale genetic structure and for detecting genomic regions under selection in 63 Tunis ia n sheep samples. The average genomic inbreeding coefficients based on ROH were estimated at 0.017, 0.021, and 0.024 for Barbarine (BAR, n = 26), Noire de Thibar (NDT, n = 23), and Queue fine de l'Ouest (QFO, n = 14) breeds, respectively. The genomic relationships among individuals based on identity by state (IBS) distance matrix highlighted a recent introgression of QFO into the BAR and a genetic differentiation of NDT samples, possibly explained by past introgression of Europe an gene pools. Genome-wide scan for ROH across breeds and within the BAR sample set identified an outstanding signal on chromosome 13 (46.58–49.61 Mbp). These results were confirmed using FST index, differentiating fat vs. thin-tailed individuals. Candidate genes under selection pressure (CDS2, PROKR1, and BMP2) were associated to lipid storage and probably preferentially selected in fat-tailed BAR animals. Our findings suggest paying more attention to preserve the genetic integrity and adaptive alleles of local sheep breeds

Genome-wide homozygosity in Maremmana cattle

The current availability of large numbers of single nucleotide polymorphisms (SNPs) throughout the genome makes these markers particularly suitable for the detection of patterns of genetic diversity and of genome-wide homozygosity in animal populations. The aim of this work was to estimate genetic diversity and homozygosity in the Maremmana cattle breed. We used a sample of 149 animals (males and females) genotyped with the BovineSNP50 v2 (54K) Illumina BeadChip. After editing for call-rate > 0.9 and removing SNP unassigned or on the sex chromosomes, 128 animals and 50,814 SNPs were left. We estimated the following genetic parameters: observed and expected heterozygosity (Ho and He), minor allele frequency (MAF), and the FIS statistic. We also scanned the genome for runs of homozygosity (ROH). In the present study, ROH were detected based on 20-SNP-long sliding-windows, and allowing for a maximum of 1 missing and 1 heterozygote genotype, and a maximum gap between consecutive SNP of 105 bp. ROH contained minimum 10 SNPs, and had a minimum length of 1 Mb and a minimum density of 1 SNP every 50 kbps. The average Ho and He were 0.374 \ub10.132 and 0.365 \ub10.120, respectively, and the average MAF was 0.274 \ub10130. These values are consistent with the range observed in other cattle breeds. We obtained some negative values for FIS (-0.162 to 0.180) which corresponded to animals with lower than average homozygosity. In total, 10,465 ROH were detected (81.75 per animal), with an average length of 2.69 Mb. Most ROH (74%) had length 64 2 Mb. ROH are contiguous lengths of homozygous genomic segments where the two inherited haplotypes are identical. ROH indicate genomic regions where a reduction in heterozygosity occurred, and offer new opportunities to estimate inbreeding (F). The inbreeding coefficient based on ROH (FROH) was estimated by the ratio between the total ROH length and the size of the genome in each animal. Average FROH was 0.0869 \ub10.032. Unlike inbreeding estimated based on Ho, FROH is not influenced by allele frequencies (sampling) and can distinguish recent from ancient inbreeding. However, FROH requires SNP positions to be known (unlike Ho). Two genomic regions with ROH in over 60% of the animals were found: one on BTA6 (38.6-39.7 Mbps), one on BTA13 (54.3-54.8 Mbps). These may highlight regions where selective pressures have shaped the genome of the Maremmana breed

Selection signatures of fat tail in sheep

The investigation of the genes with a role in lipid metabolism enjoy considerable scientific and commercial interest because of the strong correlations between fat deposition and the risk of cardiovascular disease. The fat tail characteristic of sheep is the adaptive response to harsh environment, and beyond representing a valuable energy reserve for facing future climate changes provides clues for elucidating the physiology of fat deposition. Studies on various sheep populations detected fat-tail signatures on chromosomes 2, 3, 5, 6, 7 and 13. Fat-tailed sheep represent about 25% of the world\u2019s sheep population, and the genes with a role in this phenotype are likely not the same for every breed, since the wild ancestor of sheep had a thin tail, and the fat tail was selected by humans in longstanding husbandry practices in different regions. In the present work, a genome-wide scan using ~50,000 Single Nucleotide Polymorphisms was performed to identify selection signatures for the f at tail in the Barbaresca sheep, an Italian breed originating from North Africa. Fst values of differentiation, and \u3c72 test of significance of allele frequency were calculated, for each marker, between the Barbaresca and each of 13 Italian thin-tailed breeds. Strong signals of selection were detected for all 13 breeds on chromosome 6, in a region encoding the SLIT homolog 2 gene, this gene acting as a molecular guidance cue in cellular migration. The signature on chromosome 7 was very strong only in some of the breeds used for comparison: the detected signal was located in proximity of the Vertnin gene, a candidate for variation in vertebral number, and was already revealed in Iranian and Mediterranean fat-tailed breeds, but not in the Chinese sheep, so confirming the complexity of the fat-tail phenotype, which is associated in some breeds to long and pendulous tail, while, in other breeds, to the short tail

Implementing dynamic changes in automation support using ocular-based metrics of mental workload: a laboratory study.

Adaptive Automation has been often invoked as a remedy to indiscriminate introduction of automation support. However, this form of automation is difficult to implement without a sensitive and reliable index of the Operator Functional State. In a series of studies we have showed the usefulness of the distribution of eye fixations as an index of mental workload to be used as a trigger of automation. Particularly, the distribution pattern was found to be sensitive to taskload variations and types, thus making it very appealing for designing adaptive systems. This approach seems to be valid and reliable, but a necessary step in this research program would be testing the effectiveness of automation driven by fixation distribution and its capability in reducing the workload. The present study is a first attempt to carry out such validation