139,241 research outputs found
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy
No full textMSTO1 is a cytoplasmic protein that modulates mitochondrial dynamics by promoting mitochondrial fusion. Mutations in the MSTO1 gene are responsible for an extremely rare condition characterized by early-onset myopathy and cerebellar ataxia. We report here two siblings from a large Ashkenazi Jewish family, presenting with a progressive neuromuscular disease characterized by ataxia and myopathy. By whole exome sequencing, we found a novel homozygous missense mutation (c.1403T>A, p.Leu468Gln) in MSTO1. Studies performed on fibroblasts from the index patient demonstrated the pathogenic role of the identified variant; we found that MSTO1 protein level was reduced and that mitochondrial network was fragmented or formed enlarged structures. Moreover, patient’s cells showed reduced mitochondrial DNA amount. Our report confirms that MSTO1 mutations are typically recessive, and associated with clinical phenotypes characterized by early-onset muscle impairment and ataxia, often with upper motor neuron signs and varied cognitive impairment
Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation
No full textWe describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle weakness. Absence of cores was noted in all patients. Genome wide linkage analysis revealed a single locus on chromosome 19q13 with Zmax = 3.86 at theta = 0.0 and homozygosity of the polymorphic markers at this locus in patients. Direct sequencing of the main candidate gene within the candidate region, RYR1, was performed. A novel homozygous A to G nucleotide substitution (p.Y3016C) within exon 60 of the RYR1 gene was found in patients. ARMS PCR was used to screen for the mutation in all available family members and in an additional 150 healthy individuals. This procedure confirmed sequence analysis and did not reveal the A to G mutation (p.Y3016C) in 300 chromosomes from healthy individuals. Functional analysis on EBV immortalized cell lines showed no effect of the mutation on RyR1 pharmacological activation or the content of intracellular Ca(2+) stores. Western blot analysis demonstrated a significant reduction of the RyR1 protein in the patient's muscle concomitant with a reduction of the DHPRalpha1.1 protein. This novel mutation resulting in RyR1 protein decrease causes heterogeneous clinical presentation, including slow progression course and absence of centrally localized cores on muscle biopsy. We suggest that RYR1 related myopathy should be considered in a wide variety of clinical and pathological presentation in childhood myopathies
Torneos instantáneos de futbol en cualquier parte del mundo propuesta de implementación de una aplicación web que permite la generación y la administración de torneos de todos los equipos involucrados que se enfrentan entre sí y elige un ganador a través de la acumulación de puntos
No full textThe present thesis project consists in the development of a web application in the Python programming language and Django framework to control the generation and administration of soccer tournaments with access from any Internet browser around the world.
The application provides a super administrator created by the system and a module to register any users using an independent platform. For this application, four functionalities were developed: user registration, user creation with privileges, tournament creations, and computations to determine a champion in tournaments in league format. The computations provide a standings table in which is ordered by points, goal difference and goals in favor respectively.
The application allows to differentiate many types of users. There is the user that inputs data to update the scores of the matches from a tournament it was assigned. There is the user's team representative who can view only the standings of the team it was assigned to. Lastly, there are public tournaments that can be viewed by any type of user without registration.El presente proyecto de tesis trata de la creación de una aplicación web en lenguaje de programación Python y la ayuda del Framework Django, para controlar la generación y administración de torneos de fútbol con acceso desde cualquier parte del mundo desde cualquier explorador de internet.
La aplicación provee un súper administrador creado por el sistema y un módulo para registrar usuarios que deseen utilizar la plataforma de forma independiente. Para esta aplicación se implementaron cuatro funcionalidades: registro de usuarios, creación de usuarios y asignación de permisos, creación de torneos y cálculos realizados para definir un ganador del torneo en formato de liga. Los cálculos realizados proporcionan una tabla de posiciones por torneo en la cual se ordenan los equipos por puntos, diferencia de goles y goles a favor respectivamente.
La aplicación permite diferenciar tipos de Usuarios. Existe el usuario digitador que tiene el permiso de actualizar los resultados de los partidos del torneo que fue asignado. Existe el usuario representante de equipo que podrá ver únicamente la tabla de posiciones del equipo al cual fue asignado. Por último, existen torneos públicos los cuales podrán ser vistos por cualquier persona con acceso a internet sin tener que registrarse
Control de un generador de pulsos, una fuente de voltaje-corriente y matriz por medio del protocolo GPIB programado en Python
No full textThe present thesis project consists in the development of two applications in the Python programming language, to control two devices of laboratory of electronic engineering laboratory of Universidad San Francisco de Quito, and the configuration of a third equipment using the manufacturer’s software tools.
The two applications developed will control am electrical power supply and a wave generator, two of the equipment present in the electronic engineering laboratory. For the power supply application, three features were implemented, configure fixed values in the device, a current or voltage sweep and a master – slave current – voltage sweep. The application for the wave generator features setting up fixed values in the device, a linear or logarithmic frequency sweep and an arbitrary wave form generator tool.
The third equipment is a switching matrix, which will be configured to work in conjunction with a fourth equipment, a semiconductor characterization system. The interaction between the two devices will be controlled from the GUI of the semiconductor characterization system using the application and test environment Keithley Interactive Test Environment (KITE).El presente proyecto de tesis trata de la creación de dos aplicaciones en el lenguaje de programación Python, para controlar dos equipos del laboratorio de ingeniería electrónica de la Universidad San Francisco de Quito, y la configuración de un tercer equipo usando las herramientas de software del fabricante.
Las dos aplicaciones desarrolladas controlarán una fuente de corriente – voltaje y un generador de ondas, dos de los equipos presentes en el laboratorio de ingeniería electrónica. Para la aplicación de la fuente de corriente – voltaje se implementaron tres funcionalidades, configuración de valores fijos en el equipo, barrido de corriente o voltaje y barrido de corriente y voltaje de tipo maestro – esclavo. En la aplicación para el generador de ondas se implementaron las funcionalidades de configurar valores fijos en el dispositivo, hacer un barrido de frecuencia linear o logarítmico y generar ondas arbitrarias con el dispositivo
El tercer equipo es una matriz de conmutación de circuitos, que será configurada para funcionar en conjunto con un cuarto equipo, un caracterizador de semiconductores. La interacción entre los dos equipos será controlada desde la interfaz gráfica del caracterizador de semiconductores usando la aplicación y entorno de pruebas Keithley Interactive Test Environment (KITE)
Spatially-localized time dependent solutions including turbulence and their interactions in 2D Kolmogorov flow
No full textIn 2D Kolmogorov flow in small aspect ratio domains, spatially-localized solutions such as kink, traveling or time-dependent kink-antikink pars coexist. However, the conservation of the flow rate in the y direction strongly restrict combination of localized solutions and their positioning. We find that by adding a homogeneous flow U y their positioning is controlled and each of localized solutions including a spatially-localized chaos is isolated. Numerical results suggest that these isolated solutions can be elements constructing a whole flow
Un torneo en el bolsillo desarrollo de una aplicación nativa móvil android para la generación y administración de torneos de futbol en formato de liga
No full textThe present thesis project comprises the design and development of a native application for Android devices using the Java programming language that allows the creation and administration of soccer tournaments, offering this functionality without the need for a permanent internet connection.
The inner workings of this application requires the design and development of a series of Web Services written in the JavaScript programming language using the NodeJS Framework. These Web Services are needed for the connection between the Android devices and the central database for the tournaments that is stored in the Internet. These Web Services can be reused for development of similar applications for different devices.
This application complements an existing service only reachable through web browsers known as Tourngen Web, allowing for an expansion of that system´s functionality. Tourngen Web allows the creation of users, tournaments, teams, automatic generation of matches, submitting match results and automatic calculation of positions based on match scores. The Android application offers the same functionality without the need for a permanent Internet connection; besides allowing the user to manage those tournaments already created through the web platform and creating tournaments that can be managed using the web platform.El presente proyecto de tesis conlleva el diseño y desarrollo de una aplicación nativa para dispositivos Android utilizando el lenguaje de programación Java que permita la generación y administración de torneos de fútbol, ofreciendo esta funcionalidad sin necesidad de una conexión permanente al internet.
Para el funcionamiento de esta aplicación se diseña y desarrolla una serie de Web Services en el lenguaje de programación JavaScript utilizando el Framwork NodeJS. Estos Web Services son necesarios para la conexión entre los dispositivos Android y la base de datos central de torneos que se encuentra en el internet. Estos Web Services pueden ser reutilizados para desarrollar aplicaciones similares para diferentes dispositivos.
La aplicación complementa a un servicio existente solo a través de una plataforma web conocida como Tourngen Web, permitiendo expandir la funcionalidad de este sistema. Tourngen Web permite la creación de usuarios, torneos, equipos, generación automática de partidos, ingreso de resultados y cálculo automático de las posiciones de los equipos dentro del torneo. La aplicación de Android ofrece la misma funcionalidad sin necesidad de mantener una conexión permanente al internet, además de poder administrar los torneos creados vía web y crear torneos que pueden ser administrados vía web
Characteristics of overlap region in high-Reynolds number turbulent channel flow
No full textDirect numerical simulation of the fully developed turbulent channel flows have been carried out at the Reynolds number based on the friction velocity and the channel half width, 2000, 4000 and 8000. A hybrid 10th order accurate finite difference scheme in the stream and spanwise directions, and a second-order scheme in the wall-normal direction is adapted as the spatial discretization method. We observed the plateau profiles in the indicator function corresponded to the von Karman constant. Furthermore, second peak of streamwise pre-multiplied spectra were appeared in the same wall normal height, 300 < y+ < 600, in case of Re = 4000. Nevertheless, the effects of the lager than the channel half height scale on the streamwise turbulent intensity are fixed contributions without dependence on Reynolds number. These results suggested that the new streamwise vortexes are formed between buffer layer and outer layer with increasing of Reynolds number
La 'circunstancia' de 'Herederos y Pretendientes
No full textIn June 2010, the Ortega y Gasset Foundation hosted a Conference about the “Spanish Philosophical Transition” in order to debate the book of Francisco Vázquez, La filosofía española. Herederos y Pretendientes. Una lectura sociológica (1963-1990), recently published. This paper is the author’s response to criticism raised in the Conference and to published reviews received by this book. First, the author summarized the argument of Herederos y pretendientes. Secondly he responds and takes into account the most important objections against the book’s hypothesis and methodology. Finally the author evaluates the favorable judgments received by the book and suggests the limits of the historian’s task.Fundación Ortega y Gasset-Marañó
Aplicación MedPal-CNN
No full textThis document details the construction of the mobile app MedPal-CNN for Android and iOS;
which was created for the purpose of aiding professionals providing Palliative Pediatric Care.
A myriad of technologies like Angular, Bootstrap and JQuery are used in the development of
the application; attention is paid on the benefits these technologies provide...En este documento se detalla la construcción de la aplicación móvil para Android y iOS,
MedPal-CNN; la cuál es una herramienta didáctica para ayudar en los Cuidados Paliativos
Pediátricos. La tesis aborda las tecnologías usadas para la creación de la aplicación, como
Angular, Bootstrap y JQuery; haciendo énfasis en los beneficios y facilidades que proveen..
Author self-citation in orthodontics is associated with author origin and gender.
No full textBACKGROUND
The aims of this bibliometric study were to determine author self-citation trends in high-impact orthodontic literature and to investigate possible association between self-citation and publication characteristics.
METHODS
Six orthodontic journals with the highest impact factor as ranked by 2017 Journal Citation Reports were screened for a full publication year (2018) for original research articles, reviews, and case reports. Eligible articles were scrutinized for article and author characteristics and citation metrics. Univariable and multivariable negative binomial regression was used to examine associations between self-citation incidence and publication characteristics.
RESULTS
Medians for author self-citation rate of the most self-citing authors and self-citations were 3.03% (range 0-50) and 1 (range 0-19), respectively. In the univariable analysis, there was no association between self-citation counts and study type (P = 0.41), article topic (P = 0.61), number of authors (P = 0.62), and rank of authors (P = 0.56). Author origin (P = 0.001), gender (P = 0.001) and journal (P = 0.05) were associated with self-citation counts and in the multivariable analysis only origin and gender remained strong self-citation predictors. Asian authors and females self-cited significantly less often than all other regions and male authors.
CONCLUSIONS
Authors in orthodontics do not self-cite at a frequency that suggests potential citation manipulation. Author origin and gender were the only variables associated with citations counts. More bibliometric research is necessary to draw solid conclusions about author self-citation trends in orthodontic literature
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