Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

We report on a boy presenting submucous cleft palate, hydronephrosis, ventriculoseptal defect, aniridia, and developmental delay. Additional material on 11p13 was cytogenetically visible and array analyses identified a duplicated segment on 15q25-26 chromosome region; further, array analyses revealed a small deletion (49?kb) at 11p13 region involving the ELP4 gene and a duplication at 8p23.1. Results were confirmed with both molecular and molecular cytogenetics techniques. Possibilities for etiological basis of clinical phenotype are discussed. (c) 2012 Wiley Periodicals, Inc.

Morphology and topography analysis of mesoporous titania templated by micrometric latex sphere arrays

In this work, mesoporous titania is prepared by templating latex sphere arrays with four different sphere diameters at the micrometric scale (phi > 1 mu m). The mesoporous titania homogeneously covers the latex spheres and substrate, forming a thin coating characterized by N-2 adsorption isotherm, small angle X-rays scattering, atomic force, field emission and transmission electronic microscopies. Mesoporous titania has been templated into different shapes such as hollow particles and monoliths according to the amount of sol used to fill the voids of the close packed latex spheres. Titania topography strongly depends on the adsorption of polymeric segments over latex spheres surface, which could be decreased by changing the dimensions of latex spheres (phi = 9.5 mu m) generating a lamellar architecture. Thus, micrometric latex sphere arrays can be used to achieve new surface patterns for mesoporous materials via a fast and inexpensive chemical route for construction of functional devices in different technological fields such as energy conversion, inclusion chemistry and biomaterials. (C) 2011 Elsevier Inc. All rights reserved.

Gaussian deconvolution: a useful method for a form-free modeling of scattering data from mono- and multilayered planar systems

A new method for analysis of scattering data from lamellar bilayer systems is presented. The method employs a form-free description of the cross-section structure of the bilayer and the fit is performed directly to the scattering data, introducing also a structure factor when required. The cross-section structure (electron density profile in the case of X-ray scattering) is described by a set of Gaussian functions and the technique is termed Gaussian deconvolution. The coefficients of the Gaussians are optimized using a constrained least-squares routine that induces smoothness of the electron density profile. The optimization is coupled with the point-of-inflection method for determining the optimal weight of the smoothness. With the new approach, it is possible to optimize simultaneously the form factor, structure factor and several other parameters in the model. The applicability of this method is demonstrated by using it in a study of a multilamellar system composed of lecithin bilayers, where the form factor and structure factor are obtained simultaneously, and the obtained results provided new insight into this very well known system.

Focusing surface plasmons on Er3+ ions through gold planar plasmonic lenses

Gold plasmonic lenses consisting of a planar concentric rings-groove with different periods were milled with a focused gallium ion beam on a gold thin film deposited onto an Er3+-doped tellurite glass. The plasmonic lenses were vertically illuminated with an argon ion laser highly focused by means of a 50x objective lens. The focusing mechanism of the plasmonic lenses is explained using a coherent interference model of surface plasmon-polariton (SPP) generation on the circular grating due to the incident field. As a result, phase modulation can be accomplished by the groove gap, similar to a nanoslit array with different widths. This focusing allows a high confinement of SPPs that can excite the Er3+ ions of the glass. The Er3+ luminescence spectra were measured in the far-field (500-750 nm wavelength range), where we could verify the excitation yield via the plasmonic lens on the Er3+ ions. We analyze the influence of the geometrical parameters on the luminescence spectra. The variation of these parameters results in considerable changes of the luminescence spectra.

A GIS based model for solving the planar Huff problem considering different demand distributions and forbidden regions

[EN] In this paper, we have used Geographical Information Systems (GIS) to solve the planar Huff problem considering different demand distributions and forbidden regions. Most of the papers connected with the competitive location problems consider that the demand is aggregated in a finite set of points. In other few cases, the models suppose that the demand is distributed along the feasible region according to a functional form, mainly a uniform distribution. In this case, in addition to the discrete and uniform demand distributions we have considered that the demand is represented by a population surface model, that is, a raster map where each pixel has associated a value corresponding to the population living in the area that it covers...

Paralelización de un algoritmo de ray tracing para arrays de mililentes

Máster Universitario en Sistemas Inteligentes y Aplicaciones Numéricas en Ingeniería (SIANI)

Advances of the meccano method for isogeometric analysis of irregular planar domains

[EN]We present advances of the meccano method for T-spline modelling and analysis of complex geometries. We consider a planar domain composed by several irregular sub-domains. These sub-regions are defined by their boundaries and can represent different materials. The bivariate T-spline representation of the whole physical domain is constructed from a square. In this procedure, a T-mesh optimization method is crucial. We show results of an elliptic problem by using a quadtree local T-mesh refinement technique…

Adaptive T-spline refinement for isogeometric analysis in planar geometries

[EN]We present a new strategy, based on the meccano method [1, 2, 3], to construct a T-spline parameterization of 2D geometries for the application of isogeometric analysis. The proposed method only demands a boundary representation of the geometry as input data. The algorithm obtains, as a result, high quality parametric transformation between 2D objects and the parametric domain, the unit square. The key of the method lies in defining an isomorphic transformation between the parametric and physical T-mesh finding the optimal position of the interior nodes by applying a new T-mesh untangling and smoothing procedure. Bivariate T-spline representation is calculated by imposing the interpolation conditions on points sited both on the interior and on the boundary of the geometry…

The meccano method for isogeometric analysis of planar domains

[EN]The authors have recently introduced the meccano method for tetrahedral mesh generation and volume parameterization of solids. In this paper, we present advances of the method for T-spline modelling and analysis of complex geometries. We consider a planar domain composed by several irregular sub-domains. These sub-regions are defined by their boundaries and can represent different materials. The bivariate T-spline representation of the whole physical domain is constructed from a square. In this procedure, a T-mesh optimization method is crucial. We show results of an elliptic problem by using a quadtree local T-mesh refinement technique…

Herstellung und physikochemische Charakterisierung von planaren gestützten Lipid-Modellmembran-Systemen

Es wurden funktionalisierte polymerunterstützte planare Phospholipid-Modellmembran-Systeme hergestellt und auf jeder Präparationsstufe eingehend charakterisiert. Dünne Polysaccharidfilme wurden in der Form von quellbaren Gelen auf oxidische Oberflächen aufgebracht und bezüglich ihres Quellungsverhaltens und der Oberflächeneigenschaften in Abhängigkeit vom Wassergehalt untersucht. Lipidmonoschichten unterschiedlicher Zusammensetzung wurden mittels Langmuir-Blodgett-Tranfer auf Polymersubstrate übertragen und bezüglich der Stärke der Lipid/Polymer Wechselwirkung, der lateralen Selbstdiffusion in Abhängigkeit von der Wasseraktivität, dem Spreitverhalten der monomolekularen Membran auf dem Substrat in Abhängigkeit von der Wasseraktivität und dem Lateraldruck der Monoschicht, sowie des Ausmaßes der Hydratation im Kopfgruppenbereich der Lipidmembran in Abhängigkeit von der Wasseraktivität mittels Fluoreszensondenmethoden (Fluoreszenzerholung nach Photobleichung (FRAP), Fluoreszenzmikroskopie und Fluoreszenzspektroskopie) untersucht. Diffusions- und Spreitverhalten von amphiphilen Monoschichten auf Polymersubstraten wurden auf der Basis von in dieser Arbeit entwickelten physikalischen Modellen diskutiert. Mittels Langmuir-Schäfer Transfer wurde auf polymerunterstützte Lipidmonoschichten eine zweite Monoschicht übertragen. Die somit erhaltenen Lipid-Doppelschichtmembranen wurden bezüglich ihrer Stabilität, der lateralen Struktur, der lateralen Selbstdiffusion, des Spreitverhaltens auf unbedeckte Bereiche sowie der Stärke der Membran/Substrat Wechselwirkung vermittels Fluoreszenzmikroskopie, FRAP und Interferenz-Kontrast-Mikroskopie (RICM) untersucht. Schließlich wurden substratgestützte Doppelschicht-Lipidmembranen mit als Protonenpumpen fungierenden integralen Membranproteinen versehen. Die laterale Selbstdiffusion der rekonstituierten Proteinmoleküle wurde mittels FRAP, die funktionale Aktivität der Protonenpumpen mit einem Ionen-sensitiven Feldeffekttransistor-Array analysiert.

Imaging of crustal scatterers using multiple seismic arrays

Array seismology is an useful tool to perform a detailed investigation of the Earth’s interior. Seismic arrays by using the coherence properties of the wavefield are able to extract directivity information and to increase the ratio of the coherent signal amplitude relative to the amplitude of incoherent noise. The Double Beam Method (DBM), developed by Krüger et al. (1993, 1996), is one of the possible applications to perform a refined seismic investigation of the crust and mantle by using seismic arrays. The DBM is based on a combination of source and receiver arrays leading to a further improvement of the signal-to-noise ratio by reducing the error in the location of coherent phases. Previous DBM works have been performed for mantle and core/mantle resolution (Krüger et al., 1993; Scherbaum et al., 1997; Krüger et al., 2001). An implementation of the DBM has been presented at 2D large-scale (Italian data-set for Mw=9.3, Sumatra earthquake) and at 3D crustal-scale as proposed by Rietbrock & Scherbaum (1999), by applying the revised version of Source Scanning Algorithm (SSA; Kao & Shan, 2004). In the 2D application, the rupture front propagation in time has been computed. In 3D application, the study area (20x20x33 km3), the data-set and the source-receiver configurations are related to the KTB-1994 seismic experiment (Jost et al., 1998). We used 60 short-period seismic stations (200-Hz sampling rate, 1-Hz sensors) arranged in 9 small arrays deployed in 2 concentric rings about 1 km (A-arrays) and 5 km (B-array) radius. The coherence values of the scattering points have been computed in the crustal volume, for a finite time-window along all array stations given the hypothesized origin time and source location. The resulting images can be seen as a (relative) joint log-likelihood of any point in the subsurface that have contributed to the full set of observed seismograms.

A planar Penning trap

In this thesis I present theoretical and experimental results concern- ing the operation and properties of a new kind of Penning trap, the planar trap. It consists of circular electrodes printed on an isolating surface, with an homogeneous magnetic field pointing perpendicular to that surface. The motivation of such geometry is to be found in the construction of an array of planar traps for quantum informa- tional purposes. The open access to radiation of this geometry, and the long coherence times expected for Penning traps, make the planar trap a good candidate for quantum computation. Several proposals for quantum 2-qubit interactions are studied and estimates for their rates are given. An expression for the electrostatic potential is presented, and its fea- tures exposed. A detailed study of the anharmonicity of the potential is given theoretically and is later demonstrated by experiment and numerical simulations, showing good agreement. Size scalability of this trap has been studied by replacing the original planar trap by a trap twice smaller in the experimental setup. This substitution shows no scale effect apart from those expected for the scaling of the parameters of the trap. A smaller lifetime for trapped electrons is seen for this smaller trap, but is clearly matched to a bigger misalignment of the trap’s surface and the magnetic field, due to its more difficult hand manipulation. I also give a hint that this trap may be of help in studying non-linear dynamics for a sextupolarly perturbed Penning trap.

Continuos Flow Single Cell Separation into Open Microwell Arrays

A novel design based on electric field-free open microwell arrays for the automated continuous-flow sorting of single or small clusters of cells is presented. The main feature of the proposed device is the parallel analysis of cell-cell and cell-particle interactions in each microwell of the array. High throughput sample recovery with a fast and separate transfer from the microsites to standard microtiter plates is also possible thanks to the flexible printed circuit board technology which permits to produce cost effective large area arrays featuring geometries compatible with laboratory equipment. The particle isolation is performed via negative dielectrophoretic forces which convey the particles’ into the microwells. Particles such as cells and beads flow in electrically active microchannels on whose substrate the electrodes are patterned. The introduction of particles within the microwells is automatically performed by generating the required feedback signal by a microscope-based optical counting and detection routine. In order to isolate a controlled number of particles we created two particular configurations of the electric field within the structure. The first one permits their isolation whereas the second one creates a net force which repels the particles from the microwell entrance. To increase the parallelism at which the cell-isolation function is implemented, a new technique based on coplanar electrodes to detect particle presence was implemented. A lock-in amplifying scheme was used to monitor the impedance of the channel perturbed by flowing particles in high-conductivity suspension mediums. The impedance measurement module was also combined with the dielectrophoretic focusing stage situated upstream of the measurement stage, to limit the measured signal amplitude dispersion due to the particles position variation within the microchannel. In conclusion, the designed system complies with the initial specifications making it suitable for cellomics and biotechnology applications.