Survey on the management of Pompe disease in routine clinical practice in Spain

Antibodies; Diagnosis; Pompe diseaseAnticuerpos; Diagnóstico; Enfermedad de pompeAnticossos; Diagnòstic; Malaltia de pompeBackground Despite the availability of several clinical guidelines, not all health professionals use their recommendations to manage patients with Pompe disease, a rare genetic disorder involving high-impact therapy. Through several discussion meetings and a survey, the present study aimed to learn about the management of Pompe disease in routine clinical practice in Spain, to improve clinical care in a real-life situation. Results The survey was sent to 42 healthcare professionals who manage patients with Pompe disease in their clinical practice. Although most respondents followed the clinical guidelines, clinical practice differed from the expert recommendations in many cases. Approximately 7% did not request a genetic study to confirm the diagnosis before starting treatment, and 21% considered that only two dried blood spot determinations suffice to establish the diagnosis. About 76% requested anti-GAA antibodies when there is a suspicion of lack of treatment efficacy, though a significant percentage of respondents have never requested such antibodies. According to 31% of the respondents, significant impairment of motor function and/or respiratory insufficiency is a requirement for authorizing medication at their hospital. Up to 26% waited for improvements over the clinical follow-up to maintain treatment and withdrew it in the absence of improvement since they did not consider disease stabilization to be a satisfactory outcome. Conclusions The results highlight the lack of experience and/or knowledge of some professionals caring for patients with Pompe disease. It is necessary to develop and disseminate simple guidelines that help to apply the expert recommendations better or centralize patient follow-up in highly specialized centers.Sanofi has sponsored this project without participating in the article’s design, data analysis, or writing

GUÍA METODOLÓGICA PARA LA LOCALIZACIÓN DE SUELOS DE EXPANSIÓN URBANA CON ÉNFASIS AMBIENTAL: ESTUDIO DE CASO SILVANIA CUNDINAMARCA

A partir de la identificación de la problemática que surge por la falta de planeación para seleccionar áreas adecuadas que sirvan para el crecimiento de la ciudad y las consecuencias ambientales, económicas y sociales a las que conlleva esto, se desarrolla una investigación que permita incluir las variables más influyentes que se deben tener en cuenta para la selección del suelo de expansión urbana, enfatizando en la variable ambiental por la necesidad de optimizar los recursos naturales y lograr una sostenibilidad, haciendo uso de experiencias, investigaciones y metodologías referentes al tema tratado, desarrolladas en países con características similares. Posteriormente al proceso de investigación se formula la guía metodológica para la localización del suelo de expansión urbana con énfasis ambiental, que luego es validado por medio de un caso de estudio que se lleva a cabo en el municipio de Silvania Cundinamarca y que sirve para identificar y corregir las dificultades y desarrollo metodológico de la guía. Finalmente se generan unos resultados de la implementación de la guía que permite visualizar cuales son los mejores suelos para la expansión urbana haciendo énfasis en la parte ambiental.PALABRAS CLAVESuelos de expansión urbana, medio ambiente, ordenamiento territorial, desarrollo urbano, metodología, locali

Immunostimulants in the prevention of respiratory infections.

ABSTRAC Immunomodulation promises to be an effective prophylactic and therapeutic modality for chronic and recurrent respiratory infections. As opposed to vaccines, the term Immunostimulant (IS) refers to a compound that produces a state of non-specific immunity. Most IS are oral formulations of bacterial lysates that have been used in clinical practice for decades. One of the main obstacles in the development of immunostimulants is the poor understanding of the mechanism of action. Except for some compounds the mechanism of action of bacterial products is not well understood

Actualización de material docente basado en Jupyter Notebook para su uso dentro del Plan de Internacionalización

La iniciativa de este proyecto viene justificada a la vista del gran interés generado por algunos de los materiales docentes diseñados por nuestro grupo en anteriores proyectos, en los que se vienen desarrollando diferentes herramientas docentes basadas en el uso de Jupyter Notebooks. A la vista del impacto generado, y teniendo en cuenta que la evolución del proyecto Jupyter, así como las aplicaciones de distintas herramientas asociadas a Jupyter Notebook, es continua, nos planteamos como objetivo principal del presente proyecto la actualización y la puesta a disposición en inglés de nuestra producción de los últimos años

Interactive visualization for NILM in large buildings using non-negative matrix factorization

Artículo publicado en abierto mediante APC Elsevier Open AccessNon-intrusive load monitoring (NILM) techniques have recently attracted much interest, since they allow to obtain latent patterns from power demand data in buildings, revealing useful information to the expert user. Unsupervised methods are specially attractive, since they do not require labeled datasets. Particularly, non-negative matrix factorization (NMF) methods decompose a single power demand measurement over a certain time period into a set of components or “parts” that are sparse, non-negative and sum up the original measured quantity. Such components reveal hidden temporal patterns which may be difficult to interpret in complex systems such as large buildings. We suggest to integrate the knowledge of the user into the analysis in order to recognize the real events inside the electric network behind the learnt patterns. In this paper, we integrate the available domain knowledge of the user by means of a visual analytics web application in which an expert user can interact in a fluid way with the NMF outcome through visual approaches such as barcharts, heatmaps or calendars. Our approach is tested with real electric power demand data from a hospital complex, showing how the interpretation of the decomposition is improved by means of interactive data cube visualizations, in which the user can insightfully relate the NMF components to characteristic demand patterns of the hospital such as those derived from human activity, as well as to inefficient behaviors of the largest systems in the hospita

Hacia el desarrollo de un framework para el diseño de Sistemas Infotainment Automotrices: Primeras aproximaciones contextuales

The objective of this article was to establish the first contextual approaches for the development of a framework focused on the design of automotive infotainment systems. Therefore, a method was developed to identify a group of characteristics of the infotainment system interfaces that ensure a good user experience by the user, according to previous studies. Besides, the establishment of usability is proposed as a basis for the development of the tool.El objetivo de este artículo fue establecer las primeras aproximaciones contextuales para el desarrollo de un framework enfocado en el diseño de sistemas Infotainment automotrices. Por lo cual, se desarrolló un método para la identificación de un grupo de características de las interfaces de sistemas Infotainment que aseguren una buena experiencia de uso por parte del usuario, de acuerdo con estudios previos. Además, se plantea la usabilidad como base para el desarrollo de la herramienta

Expresión de genes del sistema inmune innato del lenguado (Solea senegalensis) alimentados con Ulva ohnoi durante la infección con P. damselae subsp. piscicida

Las algas son fuente de proteínas y numerosas sustancias biológicamente activas. En el caso del género Ulva, son muy escasos los estudios sobre los efectos en el sistema inmune. En el presente trabajo se ha evaluado la respuesta a la infección por P. damselae subsp. piscicida de genes del sistema inmune innato en lenguados (Solea senegalensis) alimentados con una dieta suplementada con Ulva ohnoi. Los ejemplares de lenguado con un peso inicial de 10,7g se alimentaron durante 3 meses con una dieta control y otra conteniendo 5% de polvo seco de U. ohnoi. Transcurrido este periodo, los peces (54,17 g) se sometieron a infección frente a P. damselae subsp. piscicida y se determinó la expresión relativa de los genes que codifican para componentes del sistema del complemento, y citoquinas inflamatorias en hígado y riñón de los lenguados infectados. Los resultados obtenidos muestran, tras la infección, un incremento en la expresión de los genes que codifican para los componentes C1q4, C3, C4/1 y C9 así como TNF en el hígado de los peces que recibieron el alga. Por el contrario, se observaron niveles inferiores de expresión de los genes que codifican para las citoquinas IL1beta, IL6 e IL8b en el hígado de los ejemplares que recibieron el alga. A nivel del riñón, los lenguados alimentados con la dieta conteniendo Ulva sólo presentaron diferencias respecto al grupo control en la expresión de los genes que codifican para IL8b y C9. La activación del sistema del complemento da como resultado la formación del complejo de ataque de membrana, que tiene un papel esencial en la eliminación de microorganismos patógenos. Por otro lado, una respuesta inflamatoria controlada puede contribuir a limitar el daño derivado de la infección por P. damselae subsp. piscicida, en peces alimentados con la dieta conteniendo Ulva.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech. Ministerio de Ciencia de Innovación y FEDER (Ref. RTA2014 00023 C02

Systematic Physical Characterization of the γ-Ray Spectra of 2FHL Blazars

We test different physically motivated models for the spectral shape of the gamma-ray emission in a sample of 128 blazars with known redshifts detected by the Fermi Large Area Telescope (LAT) at energies above 50. GeV. The first nine years of LAT data in the energy range from 300. MeV to 2. TeV are analyzed in order to extend the spectral energy coverage of the 2FHL blazars in our sample. We compare these spectral data to four leptonic models for the production of gamma-rays through Compton scattering by a population of electrons with different spectral shapes. In the first three models we consider Compton scattering in the Thomson regime with different acceleration mechanisms for the electrons. In the fourth model we consider Compton scattering by a pure power-law distribution of electrons with spectral curvature due to scattering in the Klein-Nishina regime. The majority of blazar gamma-ray spectra are preferentially fit with either a power law with exponential cutoff in the Thomson regime or a power-law electron distribution with Compton scattering in the Klein-Nishina regime, while a log-parabola with a low-energy power-law and broken power-law spectral shape in the Thomson regime appears systematically disfavored, which is likely a consequence of the restriction to pure Thomson scattering that we imposed on those models. This finding may be an indication that the gamma-ray emission from flat-spectrum radio quasars (FSRQs) in the 2FHL catalog is dominated by Compton scattering of radiation from the dusty torus, while in the case of BL Lac objects, it is dominated by synchrotron self-Compton radiation

Statistics of VHE γ-rays in temporal association with radio giant pulses from the Crab pulsar

Aims. The aim of this study is to search for evidence of a common emission engine between radio giant pulses (GPs) and very-high-energy (VHE, E& x2004;> & x2004;100 GeV) gamma-rays from the Crab pulsar. Methods. We performed 16 h of simultaneous observations of the Crab pulsar at 1.4 GHz with the Effelsberg radio telescope and the Westerbork Synthesis Radio Telescope (WSRT), and at energies above 60 GeV we used the Major Atmospheric Gamma-ray Imaging Cherenkov (MAGIC) telescopes. We searched for a statistical correlation between the radio and VHE gamma-ray emission with search windows of different lengths and different time lags to the arrival times of a radio GP. A dedicated search for an enhancement in the number of VHE gamma-rays correlated with the occurrence of radio GPs was carried out separately for the P1 and P2 phase ranges, respectively. Results. In the radio data sample, 99444 radio GPs were detected. We find no significant correlation between the GPs and VHE photons in any of the search windows. Depending on phase cuts and the chosen search windows, we find upper limits at a 95% confidence level on an increase in VHE gamma-ray events correlated with radio GPs between 7% and 61% of the average Crab pulsar VHE flux for the P1 and P2 phase ranges, respectively. This puts upper limits on the flux increase during a radio GP between 12% and 2900% of the pulsed VHE flux, depending on the search window duration and phase cuts. This is the most stringent upper limit on a correlation between gamma-ray emission and radio GPs reported so far