A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

Key points: • Autosomal recessive primary microcephaly (MCPH) is a genetic disorder in which an affected subject is born with a head circumference >3 SD below the expected mean and is mentally retarded. • We report a novel locus (MCPH6) mapped to chromosome 13q12.2 in a Brazilian family. • The minimal critical region spans 6 Mb between markers AL139378GT17 and D13S1244 with a maximum two point lod score of 6.25

Ocular experimental leishmaniasis in C57BL/10 and BALB/c mice induced by Leishmania amazonensis infection

AbstractThere are few studies on human ocular leishmaniasis found in the literature. The purpose of this study was to describe experimental ocular leishmaniasis, caused by Leishmania amazonensis evaluating two different infection routes: intravitreal and instillation in C57BL/10 and BALB/c mice. In this work all animals presented low anti-Leishmania IgM and IgG titers regardless of the infection route or mouse strain. The histopathological eye analysis showed that the mice inoculated by the intravitreal route developed more severe lesions, presenting parasites in the anterior region of the eye 60days after infection. The C57BL/10 mice presented cells containing parasitophorous vacuoles associated with pigmented cells and inflammatory infiltrate, which included mast cells. Ninety days after infection no parasites could be found in either mouse strain, which led us to hypothesize that parasites had been eliminated. In this context, we show that both intravitreal and instillation routes were effective in promoting ocular leishmaniasis infections in C57BL/10 and BALB/c mice. There were no differences in the parasite infection between the two mouse models and it mimicked the ocular lesions described in symptomatic dogs in endemic areas of visceral leishmaniasis

Temperature dependent thermal conductivity of magnetocaloric materials: impact assessment on the performance of active magnetic regenerative refrigerators

Due to the dynamic nature of the active magnetic regenerative mechanism in magnetocaloric refrigeration, the thermal conductivity of the refrigerant is a critical parameter. Experimental studies have shown how the thermal conductivity of high-performance magnetic refrigerants can drastically change around their Curie temperatures (TC). However, this fact has been largely ignored in the numerical simulation of devices, raising the need to assess the impact of this approximation, particularly when the simulations are aimed at optimizing or dimensioning a particular device geometry. In this paper we show how, by employing a unidimensional numerical model of a magnetic refrigerator with parallel plates, two different temperature dependent thermal conductivity scenarios of the refrigerant affect the resulting temperature span and cooling power. By considering a gadolinium-like material as the refrigerant with thermal conductivities varying 50% near its TC, a change of the resulting device temperature span of  ∼15% is reached. The cooling power is also affected, changing also  ∼15% when the considered systems are at half their respective maximum temperature span. Our results are also discussed in terms of other geometries where the impact of these effects can be even larger, namely in cases where the axial thermal conduction in the AMR element is not negligible, or the time-scale of longitudinal thermal processes has a larger impact on the optimum operating frequency.publishe

Eu Vo Lá Ontem, Papai! ― Experiência E Culturas Infantis: Reflexões Sobre Infância E Temporalidade Recursiva

This theoretical study aims to carry out similarities between the philosophical thoughts of Walter Benjamin and sociological reflections of Manuel Jacinto Sarmento about childhood, recursive temporality, childish experiences and cultures. For this, we divided our exposition into four sessions that aim: to highlight the childhood as historical category in the modernity; to present Benjamin’s look at the approach; to highlight the prospect through the Sarmento’s optical; Finally, to approximate the concepts. We consider that the main approximation between from both is to rethink the meaning of social dynamics and the relations of social actors in the contemporary time, so not only the meanings of childhood today, but the own human condition at the present time. © 2016, Centro de Estudos Educacao e Sociedade - CEDES. All rights reserved.3713549751

The shell-forming proteome of Lottia gigantea reveals both deep conservations and lineage-specific novelties

19 pagesInternational audienceProteins that are occluded within the molluscan shell, the so-called shell matrix proteins (SMPs), are an assemblage of biomolecules attractive to study for several reasons. They increase the fracture resistance of the shell by several orders of magnitude, determine the polymorph of CaCO(3) deposited, and regulate crystal nucleation, growth initiation and termination. In addition, they are thought to control the shell microstructures. Understanding how these proteins have evolved is also likely to provide deep insight into events that supported the diversification and expansion of metazoan life during the Cambrian radiation 543 million years ago. Here, we present an analysis of SMPs isolated form the CaCO(3) shell of the limpet Lottia gigantea, a gastropod that constructs an aragonitic cross-lamellar shell. We identified 39 SMPs by combining proteomic analysis with genomic and transcriptomic database interrogations. Among these proteins are various low-complexity domain-containing proteins, enzymes such as peroxidases, carbonic anhydrases and chitinases, acidic calcium-binding proteins and protease inhibitors. This list is likely to contain the most abundant SMPs of the shell matrix. It reveals the presence of both highly conserved and lineage-specific biomineralizing proteins. This mosaic evolutionary pattern suggests that there may be an ancestral molluscan SMP set upon which different conchiferan lineages have elaborated to produce the diversity of shell microstructures we observe nowadays. DATABASE: Novel protein sequences reported in this article have been deposited in Swiss-Prot database under accession nos. B3A0P1-B3A0S4

Static Observers in Curved Spaces and Non-inertial Frames in Minkowski Spacetime

Static observers in curved spacetimes may interpret their proper acceleration as the opposite of a local gravitational field (in the Newtonian sense). Based on this interpretation and motivated by the equivalence principle, we are led to investigate congruences of timelike curves in Minkowski spacetime whose acceleration field coincides with the acceleration field of static observers of curved spaces. The congruences give rise to non-inertial frames that are examined. Specifically we find, based on the locality principle, the embedding of simultaneity hypersurfaces adapted to the non-inertial frame in an explicit form for arbitrary acceleration fields. We also determine, from the Einstein equations, a covariant field equation that regulates the behavior of the proper acceleration of static observers in curved spacetimes. It corresponds to an exact relativistic version of the Newtonian gravitational field equation. In the specific case in which the level surfaces of the norm of the acceleration field of the static observers are maximally symmetric two-dimensional spaces, the energy-momentum tensor of the source is analyzed.Comment: 28 pages, 4 figures

Effect of teatcup removal settings on milking efficiency and milk quality in a pasture-based automatic milking system

peer-reviewedIn automatic milking systems (AMS), it is important to maximize the amount of milk harvested per day to increase profitability. One strategy to achieve this goal is to reduce the time it takes to milk each cow. Several studies in conventional milking systems have shown that milking time can be reduced by increasing the milk flow rate at which the teatcup is removed. One study analyzed the effect of increasing the milk flow switch point on milking time in a confinement AMS. No research has been conducted on teatcup removal settings in pasture-based automatic milking systems. Furthermore, not all AMS remove the teatcups based on absolute milk flow rate (kg/min); hence, it is important to study alternative strategies. The aim of this experiment was to measure the effect of 3 novel teatcup removal strategies on box time (time in the AMS), milking time, somatic cell count (SCC), and milk production rate of cows milked in a pasture-based automatic milking system. Each teatcup removal strategy in this study was applied for a period of 1 wk to 1 of 3 groups of cows and then switched to the following group until cows had transitioned through all treatments. The teatcup removal strategies consisted of removing the teatcup when the quarter flow rate fell below 20% of the quarter rolling average milk flow rate (TRS20), when quarter milk flow rate was below 30% of the rolling average milk flow rate (TRS30), and when quarter milk flow rate dropped below 50% of the rolling average milk flow rate (TRS50). A limit prevented teatcup removal if the calculated milk flow rate for teatcup removal was above 0.5 kg/min. This limit was in place for all treatments; however, it only affected the TRS50 treatment. The TRS30 strategy had 9-s shorter milking time and 11-s shorter box time than the TRS20 removal strategy. The TRS50 strategy had 8-s shorter milking time and 9-s shorter box time than the TRS20 teatcup removal strategy. There was no significant difference in milking time or box time between the TRS30 and TRS50 teatcup removal strategies, probably due to the large variability in milk flow rate at teatcup removal. The TRS20 and TRS30 strategies did not differ in SCC or milk production rate. The 0.5 kg/min limit, which affected roughly 25% of milkings in the TRS50 treatment, may have distorted the effect that this setting had on milk time, box time, milk production rate, or SCC. The difference in box time for the TRS30 and TRS50 strategies could allow for more than 3 extra milkings per da

Field-based tests for the assessment of physical fitness in children and adolescents practicing sport: A systematic review within the ESA program

High levels of physical fitness (PF) can positively affect both health and cognitive function, thus monitoring its levels in youth can help increase health and quality of life in adult populations later on. This systematic review aims to identify PF field-based tests used in young European populations practicing sport to find tools that are adequate for the considered target involving a new battery within the Enriched Sport Activities (ESA) project. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement was followed. In the 83 identified articles, the main tests used were: vertical/horizontal jumps (for muscular strength/power); push-ups, running at maximum effort, sit-ups (for muscular strength/endurance); multistage non-intermittent and intermittent tests (for aerobic endurance); sit and reach (for flexibility); sprinting and agility T-tests (for speed and agility, respectively); 10 x 5 m shuttle run (SR) (for both speed and agility). Few studies assessed coordination, reaction time, power, and balance. Although the selected tests are widely used and validated, they do not determine all PF aspects and do not reflect sport-specific features. A final decision was made for the inclusion of the following tests: standing broad jump, seated medicine ball throw, 20 m SR test, 30 m sprint, Illinois test, and a new test, i.e., the crunning test, to assess different skill-related components at once. The use of this combination of tests allows for the assessment of all PF components and can help planning eective training programs and cultivate sporting talent

Strain and temperature sensitivity of a singlemode polymer optical fibre

We report experimental measurements of the strain and temperature sensitivity of the optical phase in a singlemode polymer optical fibre. These values were obtained by measuring optical path length change using a Mach-Zender interferometer

Selective disruption of Tcf7l2 in the pancreatic β cell impairs secretory function and lowers β cell mass.

Type 2 diabetes (T2D) is characterized by β cell dysfunction and loss. Single nucleotide polymorphisms in the T-cell factor 7-like 2 (TCF7L2) gene, associated with T2D by genome-wide association studies, lead to impaired β cell function. While deletion of the homologous murine Tcf7l2 gene throughout the developing pancreas leads to impaired glucose tolerance, deletion in the β cell in adult mice reportedly has more modest effects. To inactivate Tcf7l2 highly selectively in β cells from the earliest expression of the Ins1 gene (∼E11.5) we have therefore used a Cre recombinase introduced at the Ins1 locus. Tcfl2(fl/fl)::Ins1Cre mice display impaired oral and intraperitoneal glucose tolerance by 8 and 16 weeks, respectively, and defective responses to the GLP-1 analogue liraglutide at 8 weeks. Tcfl2(fl/fl)::Ins1Cre islets displayed defective glucose- and GLP-1-stimulated insulin secretion and the expression of both the Ins2 (∼20%) and Glp1r (∼40%) genes were significantly reduced. Glucose- and GLP-1-induced intracellular free Ca(2+) increases, and connectivity between individual β cells, were both lowered by Tcf7l2 deletion in islets from mice maintained on a high (60%) fat diet. Finally, analysis by optical projection tomography revealed ∼30% decrease in β cell mass in pancreata from Tcfl2(fl/fl)::Ins1Cre mice. These data demonstrate that Tcf7l2 plays a cell autonomous role in the control of β cell function and mass, serving as an important regulator of gene expression and islet cell coordination. The possible relevance of these findings for the action of TCF7L2 polymorphisms associated with Type 2 diabetes in man is discussed