A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3

Split-hand/foot malformation (SHFM) associated with aplasia of long bones, SHFLD syndrome or Tibial hemimelia-ectrodactyly syndrome is a rare condition with autosomal dominant inheritance, reduced penetrance and an incidence estimated to be about 1 in 1,000,000 liveborns. To date, three chromosomal regions have been reported as strong candidates for harboring SHFLD syndrome genes: 1q42.2-q43, 6q14.1 and 2q14.2. We characterized the phenotype of nine affected individuals from a large family with the aim of mapping the causative gene. Among the nine affected patients, four had only SHFM of the hands and no tibial defects, three had both defects and two had only unilateral tibial hemimelia. In keeping with previous publications of this and other families, there was clear evidence of both variable expression and incomplete penetrance, the latter bearing hallmarks of anticipation. Segregation analysis and multipoint Lod scores calculations (maximum Lod score of 5.03 using the LINKMAP software) using all potentially informative family members, both affected and unaffected, identified the chromosomal region 17p13.1-17p13.3 as the best and only candidate for harboring a novel mutated gene responsible for the syndrome in this family. The candidate gene CRK located within this region was sequenced but no pathogenic mutation was detected.

Neuronal Expression of Cd36, Cd44, and Cd83 Antigen Transcripts Maps to Distinct and Specific Murine Brain Circuits

Cells recruited by the innate immune response rely on surface-expressed molecules in order to receive signals from the local environment and to perform phagocytosis, cell adhesion, and others processes linked to host defense. Hundreds of surface antigens designated through a cluster of differentiation (CD) number have been used to identify particular populations of leukocytes. Surprisingly, we verified that the genes that encode Cd36 and Cd83 are constitutively expressed in specific neuronal cells. For instance, Cd36 mRNA is expressed in some regions related to circuitry involved in pheromone responses and reproductive behavior. Cd44 expression, reanalyzed and detailed here, is associated with the laminar formation and midline thalamic nuclei in addition to striatum, extended amygdala, and a few hypothalamic, cortical, and hippocampal regions. A systemic immune challenge was able to increase Cd44 expression quickly in the area postrema and motor nucleus of the vagus but not in regions presenting expressive constitutive expression. In contrast to Cd36 and Cd44, Cd83 message was widely distributed from the olfactory bulb to the brain stem reticular formation, sparing the striatopallidum, olivary region, and cerebellum. Its pattern of expression nevertheless remained strongly associated with hypothalamic, thalamic, and hindbrain nuclei. Unlike the other transcripts, Cd83 mRNA was rapidly modulated by restraint stress. Our results indicate that these molecules might play a role in specific neural circuits and present functions other than those attributed to leukocyte biology. The data also suggest that these surface proteins, or their associated mRNA, could be used to label neurons in specific circuits/regions. J. Comp. Neurol. 517:906-924, 2009. (C) 2009 Wiley-Liss, Inc.

Mixed multiplicities and the minimal number of generator of modules

Let (R, m) be a d-dimensional Noetherian local ring. In this work we prove that the mixed Buchsbaum-Rim multiplicity for a finite family of R-submodules of R(p) of finite colength coincides with the Buchsbaum-Rim multiplicity of the module generated by a suitable superficial sequence, that is, we generalize for modules the well-known Risler-Teissier theorem. As a consequence, we give a new proof of a generalization for modules of the fundamental Rees` mixed Multiplicity theorem, which was first proved by Kirby and Rees in (1994, [8]). We use the above result to give an upper bound for the minimal number of generators of a finite colength R-submodule of R(p) in terms of mixed multiplicities for modules, which generalize a similar bound obtained by Cruz and Verma in (2000, [5]) for m-primary ideals. (C) 2009 Elsevier B.V. All rights reserved.

Strong surjectivity of maps from 2-complexes into the 2-sphere

Given a model 2-complex K(P) of a group presentation P, we associate to it an integer matrix Delta(P) and we prove that a cellular map f : K(P) -> S(2) is root free (is not strongly surjective) if and only if the diophantine linear system Delta(P) Y = (deg) over right arrow (f) has an integer solution, here (deg) over right arrow (f) is the so-called vector-degree of f

ON NONSYMMETRIC THEOREMS FOR (H, G)-COINCIDENCES

Let X be a compact Hausdorff space, phi: X -> S(n) a continuous map into the n-sphere S(n) that induces a nonzero homomorphism phi*: H(n)(S(n); Z(p)) -> H(n)(X; Z(p)), Y a k-dimensional CW-complex and f: X -> a continuous map. Let G a finite group which acts freely on S`. Suppose that H subset of G is a normal cyclic subgroup of a prime order. In this paper, we define and we estimate the cohomological dimension of the set A(phi)(f, H, G) of (H, G)-coincidence points of f relative to phi.

Integrable maps with non-trivial topology: application to divertor configurations

We explore a method for constructing two-dimensional area-preserving, integrable maps associated with Hamiltonian systems, with a given set of fixed points and given invariant curves. The method is used to find an integrable Poincare map for the field lines in a large aspect ratio tokamak with a poloidal single-null divertor. The divertor field is a superposition of a magnetohydrodynamic equilibrium with an arbitrarily chosen safety factor profile, with a wire carrying an electric current to create an X-point. This integrable map is perturbed by an impulsive perturbation that describes non-axisymmetric magnetic resonances at the plasma edge. The non-integrable perturbed map is applied to study the structure of the open field lines in the scrape-off layer, reproducing the main transport features obtained by integrating numerically the magnetic field line equations, such as the connection lengths and magnetic footprints on the divertor plate.

Tokamak magnetic field lines described by simple maps

The magnetic field line structure in a tokamak can be obtained by direct numerical integration of the field line equations. However, this is a lengthy procedure and the analysis of the solution may be very time-consuming. Otherwise we can use simple two-dimensional, area-preserving maps, obtained either by approximations of the magnetic field line equations, or from dynamical considerations. These maps can be quickly iterated, furnishing solutions that mirror the ones obtained from direct numerical integration, and which are useful when long-term studies of field line behavior are necessary (e.g. in diffusion calculations). In this work we focus on a set of simple tokamak maps for which these advantages are specially pronounced.

Statistical analysis of the Doppler broadening coincidence spectrum of electron-positron annihilation radiation in silicon

We report a statistical analysis of Doppler broadening coincidence data of electron-positron annihilation radiation in silicon using a (22)Na source. The Doppler broadening coincidence spectrum was fit using a model function that included positron annihilation at rest with 1s, 2s, 2p, and valence band electrons. In-flight positron annihilation was also fit. The response functions of the detectors accounted for backscattering, combinations of Compton effects, pileup, ballistic deficit, and pulse-shaping problems. The procedure allows the quantitative determination of positron annihilation with core and valence electron intensities as well as their standard deviations directly from the experimental spectrum. The results obtained for the core and valence band electron annihilation intensities were 2.56(9)% and 97.44(9)%, respectively. These intensities are consistent with published experimental data treated by conventional analysis methods. This new procedure has the advantage of allowing one to distinguish additional effects from those associated with the detection system response function. (C) 2009 Elsevier B.V. All rights reserved.

Gamma transition intensity determination using multidetector coincidence data

This work describes two similar methods for calculating gamma transition intensities from multidetector coincidence measurements. In the first one, applicable to experiments where the angular correlation function is explicitly fitted, the normalization parameter from this fit is used to determine the gamma transition intensities. In the second, that can be used both in angular correlation or DCO measurements, the spectra obtained for all the detector pairs are summed up, in order to get the best detection statistics possible, and the analysis of the resulting bidimensional spectrum is used to calculate the transition intensities; in this method, the summation of data corresponding to different angles minimizes the influence of the angular correlation coefficient. Both methods are then tested in the calculation of intensities for well-known transitions from a (152)Eu standard source, as well as in the calculation of intensities obtained in beta-decay experiments with (193)Os and (155)Sm sources, yielding excellent results in all these cases. (C) 2009 Elsevier B.V. All rights reserved.

A new proposal for the picture changing operators in the minimal pure spinor formalism

Using a new proposal for the ""picture lowering"" operators, we compute the tree level scattering amplitude in the minimal pure spinor formalism by performing the integration over the pure spinor space as a multidimensional Cauchy-type integral. The amplitude will be written in terms of the projective pure spinor variables, which turns out to be useful to relate rigorously the minimal and non-minimal versions of the pure spinor formalism. The natural language for relating these formalisms is the. Cech-Dolbeault isomorphism. Moreover, the Dolbeault cocycle corresponding to the tree-level scattering amplitude must be evaluated in SO(10)/SU(5) instead of the whole pure spinor space, which means that the origin is removed from this space. Also, the. Cech-Dolbeault language plays a key role for proving the invariance of the scattering amplitude under BRST, Lorentz and supersymmetry transformations, as well as the decoupling of unphysical states. We also relate the Green`s function for the massless scalar field in ten dimensions to the tree-level scattering amplitude and comment about the scattering amplitude at higher orders. In contrast with the traditional picture lowering operators, with our new proposal the tree level scattering amplitude is independent of the constant spinors introduced to define them and the BRST exact terms decouple without integrating over these constant spinors.

Structured minimal-memory inexact quasi-Newton method and secant preconditioners for augmented Lagrangian optimization

Augmented Lagrangian methods for large-scale optimization usually require efficient algorithms for minimization with box constraints. On the other hand, active-set box-constraint methods employ unconstrained optimization algorithms for minimization inside the faces of the box. Several approaches may be employed for computing internal search directions in the large-scale case. In this paper a minimal-memory quasi-Newton approach with secant preconditioners is proposed, taking into account the structure of Augmented Lagrangians that come from the popular Powell-Hestenes-Rockafellar scheme. A combined algorithm, that uses the quasi-Newton formula or a truncated-Newton procedure, depending on the presence of active constraints in the penalty-Lagrangian function, is also suggested. Numerical experiments using the Cute collection are presented.

Decay of geometry for Fibonacci critical covering maps of the circle

We study the growth of Df `` (f(c)) when f is a Fibonacci critical covering map of the circle with negative Schwarzian derivative, degree d >= 2 and critical point c of order l > 1. As an application we prove that f exhibits exponential decay of geometry if and only if l <= 2, and in this case it has an absolutely continuous invariant probability measure, although not satisfying the so-called Collet-Eckmann condition. (C) 2009 Elsevier Masson SAS. All rights reserved.

Minimal surfaces in S(3) with constant contact angle

We provide a characterization of the Clifford Torus in S(3) via moving frames and contact structure equations. More precisely, we prove that minimal surfaces in S(3) with constant contact angle must be the Clifford Torus. Some applications of this result are then given, and some examples are discussed.

Banach spaces without minimal subspaces

We prove three new dichotomies for Banach spaces a la W.T. Gowers` dichotomies. The three dichotomies characterise respectively the spaces having no minimal subspaces, having no subsequentially minimal basic sequences, and having no subspaces crudely finitely representable in all of their subspaces. We subsequently use these results to make progress on Gowers` program of classifying Banach spaces by finding characteristic spaces present in every space. Also, the results are used to embed any partial order of size K I into the subspaces of any space without a minimal subspace ordered by isomorphic embeddability. (c) 2009 Elsevier Inc. All fights reserved.

ABELIANIZED OBSTRUCTION FOR FIXED POINTS OF FIBER-PRESERVING MAPS OF SURFACE BUNDLES

Let f: M -> M be a fiber-preserving map where S -> M -> B is a bundle and S is a closed surface. We study the abelianized obstruction, which is a cohomology class in dimension 2, to deform f to a fixed point free map by a fiber-preserving homotopy. The vanishing of this obstruction is only a necessary condition in order to have such deformation, but in some cases it is sufficient. We describe this obstruction and we prove that the vanishing of this class is equivalent to the existence of solution of a system of equations over a certain group ring with coefficients given by Fox derivatives.