45,X/46,XY qh–karyotype and aspermia. Case report

A 41-years old male with short stature, abnormal male sex differentiation, aspermia and schizoid character disorder is described. The patient was studied from clinical, endocrinological and genetic perspectives. Cytogenetical analysis revealed a chromosomic mosaicism formed by two normal lines 45X and 46,XY qh–. Molecular studies on AZF region evidenced that it was conserved. The correlation of the symptoms with the cytogenetic finding is discussed.Пациент 41 года, с задержкой роста, аномальным развитием мужских половых признаков, аспермией и шизоидным типом темперамента был изучен в отношении клинических, эндокринологических и генетических параметров. Цитогенетический анализ показал хромосомный мозаицизм, полученный от двух нормальных линий 45X и 46,XY qh–. Молекулярный анализ локуса AZF показал, что он был сохранен. Обсуждается корреляция симптомов с цитогенетическими данными.Пацієнт 41 року, із затримкою росту, аномальним розвитком чоловічих статевих ознак, аспермією і шизоїдним типом темпераменту був досліджений відносно клінічних, ендокринологічних і генетичних параметрів. Цитогенетичний аналіз показав хромосомний мозаїцизм, отриманий від двох нормальних ліній 45X і 46,XY qh–. Молекулярний аналіз локуса AZF показав, що він був збережений. Обговорюється кореляція симптомів з цитогенетичними даними

Thermodynamic study of benzocaine insertion into different lipid bilayers

Despite the general consensus concerning the role played by sodium channels in the molecular mechanism of local anesthetics, the potency of anaesthetic drugs also seems to be related with their solubility in lipid bilayers. In this respect, this work represents a thermodynamic study of benzocaine insertion into lipid bilayers of different compositions by means of molecular dynamics simulation. Thus, the free energy profiles associated with benzocaine insertion into symmetric lipid bilayers composed of different proportions of dipalmitoylphosphatidylcholine and dipalmitoylphosphatidylserine were studied. From the simulation results, a maximum in the free energy (ΔG) profile was measured in the region of the lipid/solution interface. This free energy barrier appears to be very much dependent on the lipid composition of the membrane. On the other hand, the minimum free energy (ΔG) within the bilayer remained almost independent of the lipid composition of the bilayer. By repeating the study at different temperatures, it was seen how the spontaneity of benzocaine insertion into the lipid bilayer is due to an increase in the entropy associated with the process.Fil: López Cascales, José Javier. Universidad Politecnica de Cartagena; EspañaFil: Oliveira Costa, Sara D.. Universidad Politecnica de Cartagena; EspañaFil: Porasso, Rodolfo Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico San Luis. Instituto de Matemática Aplicada de San Luis; Argentina. Universidad Nacional de San Luis. Facultad de Ciencias Físico Matemáticas y Naturales. Departamento de Física; Argentin

Detecting Determinacy in Prolog Programs: 22nd International Conference, ICLP 2006, Seattle, WA, USA, August 17-20, 2006. Proceedings

In program development it is useful to know that a call to a Prolog program will not inadvertently leave a choice-point on the stack. Determinacy inference has been proposed for solving this problem yet the analysis was found to be wanting in that it could not infer determinacy conditions for programs that contained cuts or applied certain tests to select a clause. This paper shows how to remedy these serious deficiencies. It also addresses the problem of identifying those predicates which can be rewritten in a more deterministic fashion. To this end, a radically new form of determinacy inference is introduced, which is founded on ideas in ccp, that is capable of reasoning about the way bindings imposed by a rightmost goal can make a leftmost goal deterministic

Propiedades mecánicas y acústicas de hormigones con áridos reciclados y neumáticos fuera de uso

Industrial progress used to be linked to the produce of large waste volumes. These industrial by-products are deposited in landfills despite these ones could be used to manufacture others. In fact, the construction industry could incorporate these materials to contributing to greater environmental balance. This paper studies the manufactured of concrete using as aggregates two kind of different wastes: construction and demolition wastes as well as recycled tires rubber (NFU). Natural fine fraction is replaced by a 10% by volume of industrial products analyzed. The mechanical behaviour and the acoustic properties of concrete made with recycled aggregates are studied. Results show a reduction in mechanical properties by using recycled aggregates and NFU. Nevertheless, it is observed that concrete made with fine recycled aggregate fraction of NFU could be employed with all the guarantees to produce concrete for non-structural applications.El progreso industrial lleva asociado la generación de grandes volúmenes de residuos que, en la mayoría de los casos, acaban en los vertederos, desperdiciando su potencial como materias primas para otros sectores industriales, como es el sector de la construcción, por lo que debe considerarse su reutilización en nuevas aplicaciones e incorporación como subproducto en el campo de los materiales de construcción, dando lugar a materiales más ecoeficientes y respetuosos con el medioambiente. Este trabajo estudia el empleo de áridos reciclados procedentes de residuos de construcción y demolición, y caucho procedente de neumáticos fuera de uso (NFU) en la fabricación de hormigones. La fracción fina natural ha sido sustituida por un 10% en volumen de los subproductos industriales analizados. El comportamiento físico, mecánico y las propiedades acústicas de los hormigones ha sido comparado con los hormigones de referencia. En los resultados se observa una reducción de las resistencias mecánicas y del modulo de elasticidad por el empleo de áridos reciclados y NFU. Se muestra que los hormigones fabricados con la fracción fina de áridos reciclados y NFU podrían ser empleados con todas las garantías en hormigones para aplicaciones no estructurales

A general perspective of the characterization and quantification of nanoparticles: Imaging, spectroscopic, and separation techniques

This article gives an overview of the different techniques used to identify, characterize, and quantify engineered nanoparticles (ENPs). The state-of-the-art of the field is summarized, and the different characterization techniques have been grouped according to the information they can provide. In addition, some selected applications are highlighted for each technique. The classification of the techniques has been carried out according to the main physical and chemical properties of the nanoparticles such as morphology, size, polydispersity characteristics, structural information, and elemental composition. Microscopy techniques including optical, electron and X-ray microscopy, and separation techniques with and without hyphenated detection systems are discussed. For each of these groups, a brief description of the techniques, specific features, and concepts, as well as several examples, are described.Junta de Andalucía FQM-5974CEI-Biotic Granada CEI2013- MP-1

Some doubts on the validity of the foreground Galactic contribution subtraction from microwave anisotropies

The Galactic foreground contamination in CMBR anisotropies, especially from the dust component, is not easily separable from the cosmological or extragalactic component. In this paper, some doubts will be raised concerning the validity of the methods used to date to remove Galactic dust emission in order to show that none of them achieves its goal. First, I review the recent bibliography on the topic and discuss critically the methods of foreground subtraction: the cross-correlation with templates, analysis assuming the spectral shape of the Galactic components, the "maximum entropy method", "internal linear combination", and "wavelet-based high resolution fitting of internal templates". Second, I analyse the galactic latitude dependence from WMAP data. The frequency dependence is discussed with the data in the available literature. The result is that all methods of subtracting the Galactic contamination are inaccurate. The galactic latitude dependence analysis or the frequency dependence of the anisotropies in the range 50-250 GHz put a constraint on the maximum Galactic contribution in the power spectrum to be less than a ~10% (68% C. L.) for a ~1 degree scale, and possibly higher for larger scales. The origin of most of the signal in the CMBR anisotropies is not Galactic. In any case, the subtraction of the Galaxy is not accurate enough to allow a "precision Cosmology"; other sources of contamination (extragalactic, solar system) are also present.Comment: 24 pages, 1 figure, accepted to be published in J. Astrophys. Ast

The Use Of Reverse Transcription-pcr For The Diagnosis Of X-linked Chronic Granulomatous Disease.

Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by a defective oxidative burst of phagocytes and subsequent impairment of their microbicidal activity. Mutations in one of the NADPH-oxidase components affect gene expression or function of this system, leading to the phenotype of CGD. Defects in gp91-phox lead to X-linked CGD, responsible for approximately 70% of CGD cases. Investigation of the highly heterogeneous genotype of CGD patients includes mutation analysis, Northern blot or Western blot assays according to the particular case. The aim of the present study was to use reverse transcription (RT)-PCR for the analysis of molecular defects responsible for X-linked CGD in eight Brazilian patients and to assess its potential for broader application to molecular screening in CGD. Total RNA was prepared from Epstein B virus-transformed B-lymphocytes and reverse transcribed using random hexamers. The resulting cDNA was PCR-amplified by specific and overlapping pairs of primers designed to amplify three regions of the gp91-phox gene: exons 1-5, 3-9, and 7-13. This strategy detected defective gp91-phox expression in seven patients. The RT-PCR results matched clinical history, biochemical data (nitroblue tetrazolium or superoxide release assay) and available mutation analysis in four cases. In three additional cases, RT-PCR results matched clinical history and biochemical data. In another case, RT-PCR was normal despite a clinical history compatible with CGD and defective respiratory burst. We conclude that this new application of RT-PCR analysis--a simple, economical and rapid method--was appropriate for screening molecular defects in 7 of 8 X-linked CGD patients.37625-3

Self-sufficient asymmetric reduction of β-ketoesters catalysed by a novel and robust thermophilic alcohol dehydrogenase co-immobilised with NADH

β-Hydroxyesters are essential building blocks utilised by the pharmaceutical and food industries in the synthesis of functional products. Beyond the conventional production methods based on chemical catalysis or whole-cell synthesis, the asymmetric reduction of β-ketoesters with cell-free enzymes is gaining relevance. To this end, a novel thermophilic (S)-3-hydroxybutyryl-CoA dehydrogenase from Thermus thermophilus HB27 (Tt27-HBDH) has been expressed, purified and biochemically characterised, determining its substrate specificity towards β-ketoesters and its dependence on NADH as a cofactor. The immobilization of Tt27-HBDH on agarose macroporous beads and its subsequent coating with polyethyleneimine has been found the best strategy to increase the stability and workability of the heterogeneous biocatalyst. Furthermore, we have embedded NADH in the cationic layer attached to the porous surface of the carrier. Since Tt27-HBDH catalyses cofactor recycling through 2-propanol oxidation, we achieve a self-sufficient heterogeneous biocatalyst where NADH is available for the immobilised enzymes but its lixiviation to the reaction bulk is avoided. Taking advantage of the autofluorescence of NADH, we demonstrate the activity of the enzyme towards the immobilised cofactor through single-particle analysis. Finally, we tested the operational stability in the asymmetric reduction of β-ketoesters in batch, succeeding in the reuse of both the enzyme and the co-immobilised cofactor up to 10 reaction cycles

J-PLUS: Identification of low-metallicity stars with artificial neural networks using SPHINX

We present a new methodology for the estimation of stellar atmospheric parameters from narrow- and intermediate-band photometry of the Javalambre Photometric Local Universe Survey (J-PLUS), and propose a method for target pre-selection of low-metallicity stars for follow-up spectroscopic studies. Photometric metallicity estimates for stars in the globular cluster M15 are determined using this method. By development of a neural-network-based photometry pipeline, we aim to produce estimates of effective temperature, $T_{\rm eff}$, and metallicity, [Fe/H], for a large subset of stars in the J-PLUS footprint. The Stellar Photometric Index Network Explorer, SPHINX, is developed to produce estimates of $T_{\rm eff}$ and [Fe/H], after training on a combination of J-PLUS photometric inputs and synthetic magnitudes computed for medium-resolution (R ~ 2000) spectra of the Sloan Digital Sky Survey. This methodology is applied to J-PLUS photometry of the globular cluster M15. Effective temperature estimates made with J-PLUS Early Data Release photometry exhibit low scatter, \sigma($T_{\rm eff}$) = 91 K, over the temperature range 4500 < $T_{\rm eff}$ (K) < 8500. For stars from the J-PLUS First Data Release with 4500 < $T_{\rm eff}$ (K) < 6200, 85 $\pm$ 3% of stars known to have [Fe/H] <-2.0 are recovered by SPHINX. A mean metallicity of [Fe/H]=-2.32 $\pm$ 0.01, with a residual spread of 0.3 dex, is determined for M15 using J-PLUS photometry of 664 likely cluster members. We confirm the performance of SPHINX within the ranges specified, and verify its utility as a stand-alone tool for photometric estimation of effective temperature and metallicity, and for pre-selection of metal-poor spectroscopic targets.Comment: 18 pages, 12 figure

Rotation and lithium abundance of solar-analog stars. Theoretical analysis of observations

Rotational velocity, lithium abundance, and the mass depth of the outer convective zone are key parameters in the study of the processes at work in the stellar interior, in particular when examining the poorly understood processes operating in the interior of solar-analog stars. We investigate whether the large dispersion in the observed lithium abundances of solar-analog stars can be explained by the depth behavior of the outer convective zone masses, within the framework of the standard convection model based on the local mixing-length theory. We also aims to analyze the link between rotation and lithium abundance in solar-analog stars. We computed a new extensive grid of stellar evolutionary models, applicable to solar-analog stars, for a finely discretized set of mass and metallicity. From these models, the stellar mass, age, and mass depth of the outer convective zone were estimated for 117 solar-analog stars, using Teff and [Fe/H] available in the literature, and the new HIPPARCOS trigonometric parallax measurements. We determine the age and mass of the outer convective zone for a bona fide sample of 117 solar-analog stars. No significant on-to-one correlation is found between the computed convection zone mass and published lithium abundance, indicating that the large A(Li) dispersion in solar analogs cannot be explained by the classical framework of envelope convective mixing coupled with lithium depletion at the bottom of the convection zone. These results illustrate the need for an extra-mixing process to explain lithium behavior in solar-analog stars, such as, shear mixing caused by differential rotation. To derive a more realistic definition of solar-analog stars, as well as solar-twin, it seems important to consider the inner physical properties of stars, such as convection, hence rotation and magnetic properties.Comment: 9 pages, 7 figure