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

Assessment of the Effectiveness of the Portuguese Implementation. VRU-TOO Deliverable 12.

The work of VRU-TOO is targeted specifically at the application of AlT for the reduction of risk and the improvement of comfort for vulnerable road users, namely pedestrians. To achieve this, the project has combined pilot implementations in three countries (UK, Greece and portugal) with behavioural studies and the development of computer simulation techniques. At the same time the pilot implementations have been co-ordinated with local and national policy priorities. This deliverable presents the results from a trial that was carried out on a major arterial road just outside the central area of Porto, Portugal The objective of the trial was to show that it was possible to improve the safety and mobility of pedestrians at a junction and crossing facility which was situated adjacent to a large school by intelligent manipulation of the signal settings. Pedestrian detectors were attached to the traffic signals in order to detect pedestrians as they approached the crossing point. As a result of this detection, in certain circumstances, the signal cycle would be advanced so as to reduce the time until the signals would change to present the pedestrian with an opportunity to cross the road. The detectors would also allow the green time for pedestrians to be extended if there was sufficient demand, allowing safer and more comfortable crossing periods. Finally the pedestrian green time could also be reduced in order to avoid wasted time, if there was no pedestrian demand, thus allowing a more optimised functioning of the junction. In order to evaluate the effectiveness of this treatment an extensive "before and after" analysis was carried out to determine the changes in safety and mobility, especially for child pedestrians. The evaluation of the trial was carried out by using the data collected to assess whether the pre- specified objectives have been achieved. The implications of the results are then discussed as well as their implication to the more general installation of such measures in the Portuguese contex

Dualities, Twists, and Gauge Theories with Non-Constant Non-Commutativity

We study the world volume theory of D3-branes wrapping the Melvin universe supported by background NSNS B-field. In the appropriate decoupling limit, the open string dynamics is that of non-commutative guage field theory with non-constant non-commutativity. We identify this model as a simple Melvin twist of flat D3 branes. Along similar lines, one recognizes the model of Hashimoto and Sethi as being the Melvin null twist, and the model of Dolan and Nappi as being the null Melvin twist, of the flat D3-brane. This construction therefore offers a unified perspective on most of the known explicit constructions of non-commutative gauge theories as a decoupled theory of D-branes in a B-field background. We also describe the world volume theory on the D3-brane in Melvin universe which is decaying via the nucleation of monopole anti-monopole pair.Comment: 18 pages, 1 figure, References added, typo correcte

A cost-effective strategy for marker assisted selection (MAS) in apple (M. pumila Mill.): the experience from the Fondazione Edmund Mach programme for resistance and quality traits

7III International Symposium on Molecular Markers in Horticulture, Riva del Garda (TN), Italy, September 25-27, 2013partially_openInternationalMarker assisted selection (MAS) permits the selection of plants carrying genes that control interesting agronomic traits through the screening of associated markers; this allows the breeders to retain only germplasm conferring desirable traits from an early stage. Usually MAS involves the screening of hundreds or thousands of seedlings and thus the main challenge faced is the development of a pipeline that starts with a “lab friendly” and unambiguous seedling disposition in greenhouse, allows the rapid collection of samples avoiding cross contamination, implements a fast, cost-effective, high-throughput method of DNA extraction to be used for a small number of PCRs, and utilizes robust, reliable, and easy to interpret molecular markers. In this study ~6,500 seedlings from 24 apple crosses were genotyped in order to select seedlings conferring resistance traits, fruit quality traits or both. Lab work was performed using the KAPA 3G Plant PCR kit. The main problems encountered were associated with dirty extractions; however, following optimization less than 10% of the seedlings had to be resampled and in total about 70% of the samples tested carried desirable traitspartially_openBanchi, E.; Poles, L.; Magnago, P.; Pindo, M.; Costa, F.; Velasco, R.; Sargent, D.J.Banchi, E.; Poles, L.; Magnago, P.; Pindo, M.; Costa, F.; Velasco, R.; Sargent, D.J

Decay Modes of Intersecting Fluxbranes

Just as the single fluxbrane is quantum mechanically unstable to the nucleation of a locally charged spherical brane, so intersecting fluxbranes are unstable to various decay modes. Each individual element of the intersection can decay via the nucleation of a spherical brane, but uncharged spheres can also be nucleated in the region of intersection. For special values of the fluxes, however, intersecting fluxbranes are supersymmetric, and so are expected to be stable. We explicitly consider the instanton describing the decay modes of the two--element intersection (an F5-brane in the string theory context), and show that in dimensions greater than four the action for the decay mode of the supersymmetric intersection diverges. This observation allows us to show that stable intersecting fluxbranes should also exist in type 0A string theory.Comment: 19 pages, 6 figures. References adde

Non-commutative gauge theory on D-branes in Melvin Universes

Non-commutative gauge theory with a non-constant non-commutativity parameter can be formulated as a decoupling limit of open strings ending on D3-branes wrapping a Melvin universe. We construct the action explicitly and discuss various physical features of this theory. The decoupled field theory is not supersymmetric. Nonetheless, the Coulomb branch appears to remain flat at least in the large N and large 't Hooft coupling limit. We also find the analogue of Prasad-Sommerfield monopoles whose size scales with the non-commutativity parameter and is therefore position dependent.Comment: 15 pages, 1 figure, reference adde

Transport Properties of Random Walks on Scale-Free/Regular-Lattice Hybrid Networks

We study numerically the mean access times for random walks on hybrid disordered structures formed by embedding scale-free networks into regular lattices, considering different transition rates for steps across lattice bonds ($F$) and across network shortcuts ($f$). For fast shortcuts ($f/F\gg 1$) and low shortcut densities, traversal time data collapse onto an universal curve, while a crossover behavior that can be related to the percolation threshold of the scale-free network component is identified at higher shortcut densities, in analogy to similar observations reported recently in Newman-Watts small-world networks. Furthermore, we observe that random walk traversal times are larger for networks with a higher degree of inhomogeneity in their shortcut distribution, and we discuss access time distributions as functions of the initial and final node degrees. These findings are relevant, in particular, when considering the optimization of existing information networks by the addition of a small number of fast shortcut connections.Comment: 8 pages, 6 figures; expanded discussions, added figures and references. To appear in J Stat Phy

Black diholes in five dimensions

Using a generalized Weyl formalism, we show how stationary, axisymmetric solutions of the four-dimensional vacuum Einstein equation can be turned into static, axisymmetric solutions of five-dimensional dilaton gravity coupled to a two-form gauge field. This procedure is then used to obtain new solutions of the latter theory describing pairs of extremal magnetic black holes with opposite charges, known as black diholes. These diholes are kept in static equilibrium by membrane-like conical singularities stretching along two different directions. We also present solutions describing diholes suspended in a background magnetic field, and with unbalanced charges.Comment: 21 pages, 2 figures; reference adde

Self-similar solutions with fat tails for Smoluchowski's coagulation equation with locally bounded kernels

The existence of self-similar solutions with fat tails for Smoluchowski's coagulation equation has so far only been established for the solvable and the diagonal kernel. In this paper we prove the existence of such self-similar solutions for continuous kernels $K$ that are homogeneous of degree $\gamma \in [0,1)$ and satisfy $K(x,y) \leq C (x^{\gamma} + y^{\gamma})$. More precisely, for any $\rho \in (\gamma,1)$ we establish the existence of a continuous weak self-similar profile with decay $x^{-(1{+}\rho)}$ as $x \to \infty$

Convergence to equilibrium for the discrete coagulation-fragmentation equations with detailed balance

Under the condition of detailed balance and some additional restrictions on the size of the coefficients, we identify the equilibrium distribution to which solutions of the discrete coagulation-fragmentation system of equations converge for large times, thus showing that there is a critical mass which marks a change in the behavior of the solutions. This was previously known only for particular cases as the generalized Becker-D\"oring equations. Our proof is based on an inequality between the entropy and the entropy production which also gives some information on the rate of convergence to equilibrium for solutions under the critical mass.Comment: 28 page