Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

Auriculo-condylar syndrome (ACS), an autosomal dominant disorder of first and second pharyngeal arches, is characterized by malformed ears (`question mark ears`), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia. Penetrance seems to be complete, but there is high inter-and intra-familial phenotypic variation, with no evidence of genetic heterogeneity. We herein describe a new multigeneration family with 11 affected individuals (F1), in whom we confirm intra-familial clinical variability. Facial asymmetry, a clinical feature not highlighted in other ACS reports, was highly prevalent among the patients reported here. The gene responsible for ACS is still unknown and its identification will certainly contribute to the understanding of human craniofacial development. No chromosomal rearrangements have been associated with ACS, thus mapping and positional cloning is the best approach to identify this disease gene. To map the ACS gene, we conducted linkage analysis in two large ACS families, F1 and F2 (F2; reported elsewhere). Through segregation analysis, we first excluded three known loci associated with disorders of first and second pharyngeal arches (Treacher Collins syndrome, oculo-auriculo-vertebral spectrum, and Townes-Brocks syndrome). Next, we performed a wide genome search and we observed evidence of linkage to 1p21.1-q23.3 in F2 (LOD max 3.01 at theta = 0). Interestingly, this locus was not linked to the phenotype segregating in F1. Therefore, our results led to the mapping of a first locus of ACS (ACS1) and also showed evidence for genetic heterogeneity, suggesting that there are at least two loci responsible for this phenotype.

SIMULATIONS OF WINDS OF WEAK-LINED T TAURI STARS. II. THE EFFECTS OF A TILTED MAGNETOSPHERE AND PLANETARY INTERACTIONS

Based on our previous work, we investigate here the effects on the wind and magnetospheric structures of weak-lined T Tauri stars due to a misalignment between the axis of rotation of the star and its magnetic dipole moment vector. In such a configuration, the system loses the axisymmetry presented in the aligned case, requiring a fully three-dimensional (3D) approach. We perform 3D numerical magnetohydrodynamic simulations of stellar winds and study the effects caused by different model parameters, namely the misalignment angle theta(t), the stellar period of rotation, the plasma-beta, and the heating index.. Our simulations take into account the interplay between the wind and the stellar magnetic field during the time evolution. The system reaches a periodic behavior with the same rotational period of the star. We show that the magnetic field lines present an oscillatory pattern. Furthermore, we obtain that by increasing theta(t), the wind velocity increases, especially in the case of strong magnetic field and relatively rapid stellar rotation. Our 3D, time-dependent wind models allow us to study the interaction of a magnetized wind with a magnetized extrasolar planet. Such interaction gives rise to reconnection, generating electrons that propagate along the planet`s magnetic field lines and produce electron cyclotron radiation at radio wavelengths. The power released in the interaction depends on the planet`s magnetic field intensity, its orbital radius, and on the stellar wind local characteristics. We find that a close-in Jupiter-like planet orbiting at 0.05 AU presents a radio power that is similar to 5 orders of magnitude larger than the one observed in Jupiter, which suggests that the stellar wind from a young star has the potential to generate strong planetary radio emission that could be detected in the near future with LOFAR. This radio power varies according to the phase of rotation of the star. For three selected simulations, we find a variation of the radio power of a factor 1.3-3.7, depending on theta(t). Moreover, we extend the investigation done in Vidotto et al. and analyze whether winds from misaligned stellar magnetospheres could cause a significant effect on planetary migration. Compared to the aligned case, we show that the timescale tau(w) for an appreciable radial motion of the planet is shorter for larger misalignment angles. While for the aligned case tau(w) similar or equal to 100 Myr, for a stellar magnetosphere tilted by theta(t) = 30 degrees, tau(w) ranges from similar to 40 to 70 Myr for a planet located at a radius of 0.05 AU. Further reduction on tau(w) might occur for even larger misalignment angles and/or different wind parameters.

ON THE DOUBLE NATURED SOLUTIONS OF THE TWO-TEMPERATURE EXTERNAL SOFT PHOTON COMPTONIZED ACCRETION DISKS

We have analyzed pair production in the innermost region of a two-temperature external soft photon Comptonized accretion disk. We have shown that, if the viscosity parameter is greater than a critical value alpha(c), the solution to the disk equation is double valued: one, advection dominated, and the other, radiation dominated. When alpha <= alpha(c), the accretion rate has to satisfy (m) over dot(1) <= (m) over dot <= (m) over dot(c) in order to have two steady-state solutions. It is shown that these critical parameters (m) over dot(1), (m) over dot(c) are functions of r, alpha, and theta(e), and alpha(c) is a function of r and theta(e). Depending on the combination of the parameters, the advection-dominated solution may not be physically consistent. It is also shown that the electronic temperature is maximum at the onset of the thermal instability, from which results this inner region. These solutions are stable against perturbations in the electron temperature and in the density of pairs.

Domestic Cats Constitute a Natural Reservoir of Human Enteropathogenic Escherichia coli Types

Feces of 70 diarrhoeic and 230 non-diarrhoeic domestic cats from Sao Paulo, Brazil were investigated for enteropathogenic (EPEC), enterohaemorrhagic (EHEC) and enterotoxigenic (ETEC) Escherichia coli types. While ETEC and EHEC strains were not found, 15 EPEC strains were isolated from 14 cats, of which 13 were non-diarrhoeic, and one diarrhoeic. None of 15 EPEC strains carried the bfpA gene or the EPEC adherence factor plasmid, indicating atypical EPEC types. The EPEC strains were heterogeneous with regard to intimin types, such as eae-theta (three strains), eae-kappa (n = 3), eae-alpha 1 (n = 2), eae-iota (n = 2), one eae-alpha 2, eae-beta 1 and eae-eta each, and two were not typeable. The majority of the EPEC isolates adhered to HEp-2 cells in a localized adherence-like pattern and were positive for fluorescence actin staining. The EPEC strains belonged to 12 different serotypes, including O111:H25 and O125:H6, which are known to be pathogens in humans. Multi locus sequence typing revealed a close genetic similarity between the O111:H25 and O125:H6 strains from cats, dogs and humans. Our results show that domestic cats are colonized by EPEC, including serotypes previously described as human pathogens. As these EPEC strains are also isolated from humans, a cycle of mutual infection by EPEC between cats and its households cannot be ruled out, though the transmission dynamics among the reservoirs are not yet understood clearly.

Worldwide sequence conservation of transmission-blocking vaccine candidate Pvs230 in Plasmodium vivax

Pfs230, surface protein of gametocyte/gamete of the human malaria parasite, Plasmodium falciparum, is a prime candidate of malaria transmission-blocking vaccine. Plasmodium vivax has an ortholog of Pfs230 (Pvs230), however, there has been no study in any aspects on Pvs230 to date. To investigate whether Pvs230 can be a vivax malaria transmission-blocking vaccine, we performed evolutionary and population genetic analysis of the Pvs230 gene (pvs230: PVX_003905). Our analysis of Pvs230 and its orthologs in eight Plasmodium species revealed two distinctive parts: an interspecies variable part (IVP) containing species-specific oligopeptide repeats at the N-terminus and a 7.5 kb interspecies conserved part (ICP) containing 14 cysteine-rich domains. Pvs230 was closely related to its orthologs, Pks230 and Pcys230, in monkey malaria parasites. Analysis of 113 pvs230 sequences obtained from worldwide, showed that nucleotide diversity is remarkably low in the non-repeat 8-kb region of pvs230 (theta pi = 0.00118) with 77 polymorphic nucleotide sites, 40 of which results in amino acid replacements. A signature of purifying selection but not of balancing selection was seen on pvs230. Functional and/or structural constraints may limit the level of polymorphism in pvs230. The observed limited polymorphism in pvs230 should ground for utilization of Pvs230 as an effective transmission-blocking vaccine. (C) 2011 Elsevier Ltd. All rights reserved.

The univalent polynomial of Suffridge as a summability kernel

A positive summability trigonometric kernel {K(n)(theta)}(infinity)(n=1) is generated through a sequence of univalent polynomials constructed by Suffridge. We prove that the convolution {K(n) * f} approximates every continuous 2 pi-periodic function f with the rate omega(f, 1/n), where omega(f, delta) denotes the modulus of continuity, and this provides a new proof of the classical Jackson`s theorem. Despite that it turns out that K(n)(theta) coincide with positive cosine polynomials generated by Fejer, our proof differs from others known in the literature.

QCD sum rules for the production of the X(3872) as a mixed molecule-charmonium state in B meson decay

We use QCD sum rules to calculate the branching ratio for the production of the meson X(3872) in the decay B -> X(3872)K, assumed to be a mixture between charmonium and exotic molecular vertical bar c (q) over bar vertical bar vertical bar q (c) over bar vertical bar states with J(PC) = 1(++). We find that in a small range for the values of the mixing angle, 5 degrees <= theta <= 13 degrees, we get the branching ratio B(B -> XK) = (1.00 +/- 0.68) x 10(-5), which is in agreement with the experimental upper limit. This result is compatible with the analysis of the mass and decay width of the mode J/psi(n pi) and the radiative decay mode J/psi gamma performed in the same approach. (C) 2011 Elsevier B.V. All rights reserved.

Specific surface area and structures of aluminas from fibrillar pseudoboehmite

By heating powders of the aluminum monohydroxide fibrillar pseudoboehmite from 200 degrees C to 1400 degrees C several high surface area aluminas are prepared and characterized by X-ray diffraction and electron optical methods. Aqueous sols with pseudoboehmite fibrils of different lengths were dried by two methods: at room temperature and spray-dried. The following aluminas were obtained after treatment of the powders at increasing temperatures and having a range of specific surface areas: gamma-Al(2)O(3) (470 degrees C - 770 degrees C; 179 m(2)/g 497 m(2)/g); delta-Al(2)O(3) (770 degrees C - 930 degrees C; 156 m(2)/g - 230 m(2)/g); theta-Al(2)O(3) (930 degrees C - 1050 degrees C; 11 m(2)/g - 200 m(2)/g); alpha-Al(2)O(3) (1050 degrees C - 1400 degrees C; 2 m(2)/g - 17 m(2)/g). Spray-dried powders, fired at the same temperature than the ground powders, showed higher specific surface areas. The higher surface area alumina have values of the same order of magnitude of the commercial ""ad-cat"" aluminas.

Temperature Dependence of the Intergranular Critical Current Density in Uniaxially Pressed Bi(1.65)Pb(0.35)Sr(2)Ca(2)Cu(3)O(10+delta) Samples

We have studied the normal and superconducting transport properties of Bi(1.65)Pb(0.35)Sr(2)Ca(2)Cu(3)O(10+delta) (Bi-2223) ceramic samples. Four samples, from the same batch, were prepared by the solid-state reaction method and pressed uniaxially at different compacting pressures, ranging from 90 to 250 MPa before the last heat treatment. From the temperature dependence of the electrical resistivity, combined with current conduction models for cuprates, we were able to separate contributions arising from both the grain misalignment and microstructural defects. The behavior of the critical current density as a function of temperature at zero applied magnetic field, J (c) (T), was fitted to the relationship J (c) (T)ae(1-T/T (c) ) (n) , with na parts per thousand 2 in all samples. We have also investigated the behavior of the product J (c) rho (sr) , where rho (sr) is the specific resistance of the grain-boundary. The results were interpreted by considering the relation between these parameters and the grain-boundary angle, theta, with increasing the uniaxial compacting pressure. We have found that the above type of mechanical deformation improves the alignment of the grains. Consequently the samples exhibit an enhance in the intergranular properties, resulting in a decrease of the specific resistance of the grain-boundary and an increase in the critical current density.

Dynamical noncommutativity

The model of dynamical noncommutativity is proposed. The system consists of two interrelated parts. The first of them describes the physical degrees of freedom with the coordinates q(1) and q(2), and the second corresponds to the noncommutativity eta which has a proper dynamics. After quantization, the commutator of two physical coordinates is proportional to the function of eta. The interesting feature of our model is the dependence of nonlocality on the energy of the system. The more the energy, the more the nonlocality. The leading contribution is due to the mode of noncommutativity; however, the physical degrees of freedom also contribute in nonlocality in higher orders in theta .

Synthesis and magnetic characterization of TmCo(2)B(2)C

A new quaternary intermetallic borocarbide TmCo(2)B(2)C has been synthesized via rapid-quench of an arc-melted ingot. Elemental and powder-diffraction analyses established its correct stoichiometry and single-phase character. The crystal structure is isomorphous with that of TmNi(2)B(2)C (I4/mmm) and is stable over the studied temperature range. Above 7 K, the paramagnetic state follows modified Curie-Weiss behavior (chi = C/(T - theta) + chi(0)) wherein chi(0) = 0.008(1) emu mol(-1) with the temperature-dependent term reflecting the paramagnetism of the Tm subsystem: mu(eff) = 7.6(2) mu(B) (in agreement with the expected value for a free Tm(3+) ion) and theta = -4.5(3) K. Long-range ferromagnetic order of the Tm sublattice is observed to develop around similar to 1 K. No superconductivity is detected in TmCo(2)B(2)C down to 20 mK, a feature which is consistent with the general trend in the RCo(2)B(2)C series. Finally, the influence of the rapid-quench process on the magnetism (and superconductivity) of TmNi(2)B(2)C will be discussed and compared to that of TmCo(2)B(2)C.

Spacetime noncommutativity with a bifermionic parameter

We consider a Moyal plane and propose to make the noncommutativity parameter Theta(mu nu) bifermionic, i.e. composed of two fermionic (Grassmann odd) parameters. The Moyal product then contains a finite number of derivatives, which avoid the difficulties of the standard approach. As an example, we construct a two-dimensional noncommutative field theory model based on the Moyal product with a bifermionic parameter and show that it has a locally conserved energy-momentum tensor. The model has no problem with the canonical quantization and appears to be renormalizable.

Path integral representations in noncommutative quantum mechanics and noncommutative version of Berezin-Marinov action

It is known that the actions of field theories on a noncommutative space-time can be written as some modified (we call them theta-modified) classical actions already on the commutative space-time (introducing a star product). Then the quantization of such modified actions reproduces both space-time noncommutativity and the usual quantum mechanical features of the corresponding field theory. In the present article, we discuss the problem of constructing theta-modified actions for relativistic QM. We construct such actions for relativistic spinless and spinning particles. The key idea is to extract theta-modified actions of the relativistic particles from path-integral representations of the corresponding noncommutative field theory propagators. We consider the Klein-Gordon and Dirac equations for the causal propagators in such theories. Then we construct for the propagators path-integral representations. Effective actions in such representations we treat as theta-modified actions of the relativistic particles. To confirm the interpretation, we canonically quantize these actions. Thus, we obtain the Klein-Gordon and Dirac equations in the noncommutative field theories. The theta-modified action of the relativistic spinning particle is just a generalization of the Berezin-Marinov pseudoclassical action for the noncommutative case.

Challenging measurement of the (16)O+(27)Al elastic and inelastic angular distributions up to large angles

The (16)O+(27)Al elastic and inelastic angular distributions have been measured in a broad angular range (13 degrees < theta(lab) < 52 degrees) at about 100 MeV incident energy. The use of the MAGNEX large acceptance magnetic spectrometer and of the ray-reconstruction analysis technique has been crucial in order to provide, in the same experiment, high-resolution energy spectra and cross-section measurements distributed over more than seven orders of magnitude down to hundreds of nb/sr. (C) 2011 Elsevier B.V. All rights reserved.

Probing the (6,7)Li nucleon densities through a new break-up process approach

In this work we present a double folding optical model analysis of new near-barrier quasi-elastic experimental data for the (6,7)Li + (120)Sn systems. From the analysis, it was possible to confirm the ground-state nucleon densities assumed for the weakly bound (6,7)Li isotopes. The apparent discrepancies between the experimental densities and those based on Dirac-Hartree-Fock Bogoliubov (DHB) calculations were removed. A new approach that simulates the projectile break-up and a positive polarization from couplings of (6,7)Li bound states with the continuum was considered in the reaction mechanism. (C) 2010 Elsevier B.V. All rights reserved.