[Comparative analysis of child development screening tools designed and validated in Mexico].
Orcajo-Castelán, Rodrigo; Sidonio-Aguayo, Beatriz; Alcacio-Mendoza, Jorge Augusto; López-Díaz, Giovana Lucía
In recent years a number of child development screening tools have been developed in Mexico; however, their properties have not been compared. The objective of this review was to compare the report quality and risk bias of the screening tools developed and validated in Mexico in their published versions. A search was conducted in databases, gray literature and cross references. The resultant tests were compared and analyzed using STARD, QUADAS and QUADAS-2 criteria. "Valoración Neuroconductual del Desarrollo del Lactante" (VANEDELA), "Evaluación del Desarrollo Infantil or EDI" (CDE in English), "Prueba de Tamiz del Neurodesarrollo infantil" (PTNI), "Cartillas de Vigilancia para identificar alteraciones en el Desarrollo del Lactante" (CVDL) and "Indicadores de riesgo del Perfil de Conductas de Desarrollo" (INDIPCD-R) were included for the comparison. No test fulfilled all STARD items. The most complete in their methodological description were VANEDELA and EDI. The areas lacking more data on the reports were recruiting and patient selection (VANEDELA, PTNI, CVDL, INDIPCD-R). In QUADAS evaluation, all had some risk bias, but some serious concerns of risk bias were raised by patient sampling and by the choice of gold standard in two tests (PTNI, INDIPCD-R). Child development screening tests created and validated in Mexico have variable report quality and risk bias. The test with the best validation report quality is VANEDELA and the one with the lowest risk of bias is EDI. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.
NASA Astrophysics Data System (ADS)
Ortiz Benavides, Fedra Lorena
El proposito de la investigacion fue evaluar la efectividad de una actividad de aprendizaje basado en la argumentacion dialogica en linea y su incidencia en el desarrollo de competencias cientificas. Se fundamenta en la teoria del aprendizaje socio cultural de Vigotsky (1984), los principios del diseno instruccional de la cognicion situada por Hung y Der-Thang (2001) y como estrategia se aplico la argumentacion dialogica utilizando el Modelo Argumentativo de Toulmin MAT (1984). El diseno experimental comparo dos grupos de estudiantes A y B en el curso virtual de Biotecnologia. El grupo A (experimental) desarrollo la discusion a partir de la estrategia disenada para este estudio y el grupo B (control) realizo la discusion desde las actividades tradicionales. El desarrollo de la competencia argumentativa se valoro con el instrumento de evaluacion para argumentacion dialogica en linea propuesta por Clark y Sampson (2008). La evaluacion de las competencias cientificas se realizo a partir de una postprueba. Los datos fueron analizados con pruebas estadisticas no parametricas. Los resultados de la investigacion, indicaron diferencias significativas en el nivel de la competencia argumental en el grupo experimental en comparacion al grupo control. Igualmente se demostro que existe una relacion positiva entre el nivel de desarrollo de la competencia argumentativa y el nivel de desarrollo de las competencias cientificas.
NASA Astrophysics Data System (ADS)
Gumbau, Manuel Forner
2010-11-01
Uno de los problemas que aborda la Mecánica Celeste es la determinación de las figuras de equilibrio de los cuerpos celestes. Para investigar su solución mediante métodos directos, se precisa evaluar el potencial generado por su autogravitación, el generado por su fuerza centríÂfuga y el generado por la fuerza de atracción entre los cuerpos. Los métodos clásicos de Finlay y Kopal que afrontan estos problemas, para determinar el potencial autogravitatorio en las configuraciones de equilibrio, emplean desarrollos en serie de los potenciales interior y exterior del potencial autogravitatorio. Estos métodos incurren en el error de suponer la convergencia en capas donde resulta cuestionable dicha convergencia para estos desarrollos en serie. En este trabajo se han elaborado unos algoritmos que contemplan toda la casuí&stica y que permiten una manipulación efic iente del producto de polinomios de Legendre, del producto de funciones asociada s de Legendre y del producto de armónicos esféricos como combinacióon lineal de ellos mismos, respectivamente. Se han obtenido, para primer y segundo orden en las amplitudes, los desarrollos correctos para los potencial es interior y exterior del potencial autogravitatorio para configuraciones de equilibrio aisladas, y , en primer orden de amplitudes, los mismos potenciales para los sistemas binarios próximos. Se ha elaborado un método analítico, en primer orden respecto de las amplitudes, para la determinación del potencial de marea en sistemas binarios próximos en el cual se manifiesta la forma de la componente secundaria del sistema
Clemens, Christoph R; Eter, Nicole
2017-07-11
Los desgarros del epitelio pigmentario de la retina (EPR) se asocian en la mayoría de los casos con los desprendimientos vascularizados del EPR debido a una degeneración macular asociada a la edad (DMAE), y normalmente implican una pérdida adversa de la agudeza visual. Estudios recientes indican que ha habido un aumento en la incidencia de desgarros del EPR desde la introducción de fármacos anti-factor de crecimiento del endotelio vascular (anti-VEGF) así como una asociación temporal entre el desgarro y la inyección intravítrea. Dado que el número de pacientes con DMAE y el número de inyecciones anti-VEGF va en aumento, tanto la dificultad de prevenir desgarros del EPR como el tratamiento tras la formación de los desgarros han adquirido una mayor relevancia. De forma paralela, la evolución de la imagenología de la retina ha contribuido de manera significativa a comprender mejor el desarrollo de los desgarros del EPR en los últimos años. Esta revisión resume los conocimientos que se poseen actualmente sobre el desarrollo, los factores pronósticos y las estrategias terapéuticas de los desgarros del EPR antes y después de que estos se formen. © 2017 S. Karger AG, Basel.
Development cooperation in water and sanitation: is it based on the human rights framework?
Brown, Colin; Heller, Léo
2017-07-01
The water and sanitation sector is verifiably receiving increased attention and funding through international development cooperation. Not least because of the way that it affects incentives and institutions in partner countries, development cooperation can have either positive or negative effects on human rights though. The consolidated frameworks for the human rights to water and sanitation is becoming linked to the international community's coordinated development efforts, as evidenced notably in the 2030 Agenda for Sustainable Development. However, a review of major funders' official policies for development cooperation in the sector suggests that many only partially endorse the frameworks for the human rights to water and sanitation. An observation of development cooperation flows to the sector allows the hypothesis to be advanced that worldwide inequalities in access to these services may be reduced through a full and clear application of the human rights framework in development cooperation activities. The article presents findings of this research and explores key stakes for development cooperation in the water and sanitation sector that are relevant for their ability to either negatively or positively contribute to the realization of human rights. Resumen El sector de agua y saneamiento ha recibido creciente atención y financiación a través de la cooperación internacional para el desarrollo. La cooperación para el desarrollo puede tener efectos tanto positivos cuanto negativos sobre los derechos humanos. El hito que consolida los derechos humanos al agua y al saneamiento están articulados a esfuerzos de cooperación para el desarrollo promovidos por la comunidad internacional, como se evidencia en la Agenda 2030 para el Desarrollo Sostenible. Sin embargo, una revisión de las políticas oficiales de los principales financiadores del sector sugiere que muchos de ellos aprueban solo parcialmente los hitos de los derechos humanos al agua y el saneamiento. La observación de los flujos de esta cooperación para el sector permite formular la hipótesis de que las desigualdades en el acceso a estos servicios en diferentes partes del mundo pueden reducirse con la aplicación completa y clara del marco de los derechos humanos en las actividades de cooperación para el desarrollo. El artículo presenta los resultados de esta investigación y explora los desafíos de la cooperación para el desarrollo del sector de agua y aguas residuales que son relevantes para impactar tanto negativamente cuanto positivamente a los derechos humanos.
Test Review: Prueba del Desarrollo Inicial del Lenguaje.
ERIC Educational Resources Information Center
Crawford, Alan N.
1985-01-01
Concludes that the PDIL (the Spanish version of the Test of Early Language Development) should be used with caution. Since its reliability and validity were determined with the English language version, the method used to translate test items may have some ambiguities, and some illustrations on picture cards may not be culturally appropriate for…
2017-06-01
para el grado de MAESTRÍA EN EL ARTE Y CIENCIA MILITAR Estudios Generales por PERCY ALEXIS RODRÍGUEZ CASTILLO, LTC, EJÉRCITO DE...PERÚ Licenciado en Ciencias Militares, Escuela Militar de Chorrillos “CRL Francisco Bolognesi”, Lima, Perú, 1999 WHINSEC 2017
Basics about Babies' Brain Development = Los basicos del desarrollo del cerebro.
ERIC Educational Resources Information Center
Southeastern Regional Vision for Education (SERVE), Tallahassee, FL.
This brochure for parents, in English- and Spanish-language versions, provides facts about infants' brains and offers suggestions for parents to help their baby's development by providing experiences to stimulate neural development. The facts are: (1) a baby's brain needs many different experiences to be nourished, such as being talked or sung to…
R. Kasten Dumroese; Thomas D. Landis; Kim M. Wilkinson
2012-01-01
El agua es el factor que más puede afectar el crecimiento y la sanidad de las plantas por sà solo. Es esencial para casi todos los procesos vegetales: la fotosÃntesis, el transporte de nutrientes, el crecimiento y el desarrollo celular. De hecho, del 80 al 90% del peso de un plantÃn es agua, por lo cual el manejo del riego es una de las tareas más trascendentes dentro...
Hernández Holguín, Dora M; Páez Zapata, Esteban; Múnera Restrepo, Laura M; Duque Ramírez, Luis F
2017-03-01
Aunque algunos informes identifiquen a Colombia como ejemplo de un país que ha logrado revertir los niveles crecientes de violencia, estos siguen siendo altos. Por este motivo se han convocado acciones de promoción de la convivencia y prevención de la violencia, a las cuales responde el programa que presentamos en este artículo. Este programa está basado en la perspectiva contextual-evolutiva del modelo ecológico y en la educación para la salud, tendiente al cuidado de sí en los padres o cuidadores, y al ejercicio de una crianza, centrada en los derechos de los niños, el desarrollo infantil y la promoción de la salud mental, con el fin de promover el desarrollo saludable y prevenir comportamientos agresivos en los niños; éste es presentado como una alternativa de orientación psicosocial para el fortalecimiento de estrategias y programas dirigidos a la primera infancia.
Uso Del Condón en Adolescentes Nahuas, un Modelo Explicativo.
Tirado, María de Los Ángeles Meneses; Benavides-Torres, Raquel A; Navarro, Sergio Meneses; de la Colina, Juan Antonio Doncel; Rodríguez, Dora Julia Onofre; Hernández, Francisco Javier Baéz
2018-03-01
En México, la población indígena supera los siete millones de habitantes, en Puebla el grupo más representativo es el Náhuatl. Sin embargo, las condiciones de vida, salud, educación y transporte son precarias para esta población. En los adolescentes, las responsabilidades como el matrimonio, la familia y los compromisos ante la comunidad, favorecen conductas de riesgo sexual que dificultan su desarrollo económico, social y reproductivo. El objetivo fue proponer un modelo explicativo del uso del condón en adolescentes nahuas. Método. Bajo el marco de la teoría social cognitiva, el concepto de valores culturales de Leininger y el proceso de la sustracción teórica, se desarrolló este artículo. Se muestran las relaciones del modelo con las proposiciones y los factores que influyen en el uso del condón para este grupo específico. Finalmente, el modelo explica las variables de interés, los niveles de abstracción y las relaciones entre sí en el contexto náhuatl. El siguiente paso será implementar los indicadores empíricos para conocer el grado de influencia de los factores personales y ambientales hacia el uso del condón en adolescentes nahuas. Resultados que aportarán información para el desarrollo del conocimiento en enfermería y la reducción de riesgo sexual de esta población.
NASA Astrophysics Data System (ADS)
Costa Diaz, Agnes
El estudio que se presenta es de caracter cualitativo, un estudio multicasos donde se estudia la estructura logica utilizada por cuatro (4) profesores universitarios que ensenan el curso introductorio de quimica, en la planificacion, presentacion y evaluacion del tema sobre el comportamiento de los gases. Se utilizaron varias fuentes de informacion como: cuestionarios de profesores y estudiantes, entrevistas, grabaciones videomagnetofonicas, materiales didacticos y una prueba conceptual, entre otros. La informacion recopilada fue analizada de acuerdo al orden logico del contenido presentado, el estilo de ensenanza del profesor, las tecnicas y estrategias utilizadas para el desarrollo de destrezas de pensamiento, el ambiente fisico en el salon de clase y los instrumentos de evaluacion y avaluo. El estudio demuestra que lo que los profesores piensan y planifican para hacer sus presentaciones no necesariamente es lo que ocurre en el salon de clases. El desarrollo de destrezas de pensamiento, que constituye una prioridad de los profesores, no se elaboran efectivamente. El uso de las estrategias de resolucion de problemas numericos predomino. La participacion del estudiante en el salon de clases fue limitada y no se logro demostrar el desarrollo de las destrezas de pensamiento deseadas. Aunque los profesores tienen su propio estilo de ensenanza, el orden logico del contenido presentado en clase fue el mismo o siguio muy de cerca el orden establecido por el libro de texto. Los profesores utilizaron preferentemente la tiza y la pizarra para sus presentaciones y la dinamica en el salon de clases fue esencialmente tradicional. Los profesores hicieron su presentacion y los estudiantes copiaron pasivamente la informacion. Las evaluaciones de los estudiantes fueron esencialmente, pruebas escritas de seleccion multiple de acuerdo con el estilo en que se les enseno. El avaluo fue casi inexistente. La prueba conceptual administrada revela un aprendizaje pobre en los conceptos mas basicos sobre el comportamiento de los gases. El estudio senala que la ejecutoria del profesor en todos los aspectos de la ensenanza y el aprendizaje es un factor clave que debe darsele prioridad. Se recomienda que el profesor, en general, tenga un conocimiento basico de las teorias de aprendizaje, de los factores que afectan el aprendizaje y las tecnicas y estrategias mas efectivas en el desarrollo de destrezas de pensamiento entre sus estudiantes. La estructura de la disciplina debe incluir tanto lo experimental como lo teorico.
Identificación de Intervenciones para el Desarrollo Positivo de la Juventud
Sardiñas, Lili M.; Padilla, Viviana; Aponte, Mari; Boscio, Ana Morales; Pedrogo, Coralee Pérez; Santiago, Betzaida; Morales, Ángela Pérez; Dávila, Paloma Torres; Cesáreo, Marizaida Sánchez
2017-01-01
Resumen En el mundo hay más personas en la etapa de la juventud que en cualquier otra etapa del desarrollo. La juventud en Puerto Rico enfrenta muchas situaciones que inciden en su desarrollo y preparación para la adultez. Por lo tanto, es imperante identificar intervenciones para el desarrollo positivo de la juventud que han demostrado ser basadas en la evidencia. Además, a partir de dicha identificación, desarrollar prácticas que ayuden a los jóvenes a desarrollarse para prevenir situaciones adversas, promover experiencias positivas y propiciar que los niños y jóvenes estén involucrados y comprometidos. Se identificaron 147 intervenciones a través de una revisión tradicional de la literatura científica estadounidense. Los resultados reflejan que las intervenciones atienden la reducción de factores de riesgo y el incremento de factores de protección. Sin embargo, ninguna intervención propicia que los niños y jóvenes estén involucrados y comprometidos con su desarrollo óptimo y con sus comunidades. No obstante, todas brindan herramientas que podrían ser de utilidad para fomentar dichas prácticas en el contexto de Puerto Rico. De las 147 intervenciones identificadas seis están diseñadas para la población puertorriqueña residente en la Isla. Con el propósito de hacer la información accesible a los profesionales y la comunidad se expandió la colección del Archivo de Programas y Prácticas Basadas en Evidencia para la Prevención. PMID:28919943
ERIC Educational Resources Information Center
Suelzle, Marijean; Keenan, Vincent
Intended for parents of developmentally disabled children, the handbook, in Spanish, provides information on service needs and services available in Lake County, Illinois. Section I focuses on life course planning with sections of diagnosis and assessment, professionals involved with special education, education for the developmentally disabled,…
ERIC Educational Resources Information Center
Dodge, Diane Trister; Colker, Laura J.; Heroman, Cate
Intended for use with the Creative Curriculum for Early Childhood, this integrated ongoing student assessment toolkit, in Spanish, is designed for preschool teachers to help them focus on all aspects of a child's development, thereby giving them a way to ensure that all children in their classes are making progress. The assessment kit uses a…
A Simple Economic Model of Cocaine Production
1994-01-01
University of New Mexico Press: Albuquerque (revised editionL 1988 11. "Plan de F*ecucion del Proyecto de Desarrollo Rural Integral del Alto Huallaga...ensuing raw material supplies (an industrial altenative)? This policy is represented in the model by ’Onewould alsohaeummakwbEr de otu of thsenw eprse...tht iemantngpoWAMdualoldi dieweinvesumaitisdie sa.sdietoldieoutpu ~~maahth~~~~ lnu~Ti srpemtdi dwemodelbyaeng diet die tota bacor A~l, ssousud it de nw
Extensión del Formalismo de Orbitales de Defecto Cuántico al tratamiento del efecto Stark (SQDO).
NASA Astrophysics Data System (ADS)
Menéndez, J. M.; Martín, I.; Velasco, A. M.
El estudio experimental de las interacciones de átomos Rydberg altamente excitados con campos eléctricos ha experimentado un creciente interés durante las dos últimas décadas debido, en gran medida, al desarrollo de nuevas técnicas para crear y estudiar átomos Rydberg en el laboratorio. Acompañando a estas nuevas técnicas experimentales, es necesario el desarrollo de modelos teóricos que nos permitan contrastar sus medidas y conocer mejor los fundamentos de los mismos. Desde el punto de vista teórico el conocimiento del desdoblamiento de los niveles energéticos de un átomo en función de la magnitud del campo eléctrico aplicado (lo que se conoce como mapa Stark) es el mejor punto de partida para la descripción del sistema y un prerrequisito fundamental para el cálculo de distintas propiedades atómicas en presencia del campo eléctrico tales como intensidades de transición, umbrales de ionización de campo eléctrico, tiempos de vida, posición y anchura de cruces evitados, etc. En este trabajo presentamos la adaptación del método de orbitales de defecto cuántico [1,2,3] al tratamiento del efecto Stark (SQDO) [4] y su aplicación al cálculo de los desdoblamientos energéticos y fuerzas de oscilador de estados Rydberg en los átomos de Li, Na y K. El propósito de este estudio es, por un lado, desarrollar métodos fiables para la determinación de propiedades atómicas en presencia de campos eléctricos y, por otro, mostrar la fiabilidad de las funciones de onda QDO en la descripción del efecto Stark en sistemas atómicos.
Sellés, Sergio; Fernández-Sáez, José; López-Lluch, Guillermo; Cejuela, Roberto
2016-02-16
El proceso de formación de futuros deportistas debe ser un trabajo estructurado y planificado para poder alcanzar el máximo nivel deportivo. Es fundamental en este periodo tener presentes los ritmos de desarrollo y maduración de los jóvenes deportistas para así adecuar las cargas de entrenamientos a sus estados evolutivos. El objetivo del estudio fue determinar y analizar la edad morfológica en nadadores y triatletas adolescentes, estableciendo diferencias entre su edad cronológica, grupos y género. A través del método antropométrico se determinó el estado de maduración biológica en un grupo de 37 deportistas jóvenes tecnificados. Los resultados muestran que la mayoría de la muestra (70,8%) se encuentra en un estado avanzado de desarrollo con respecto a su edad cronológica, siendo más notorio en el caso de los nadadores este estado de madurez avanzado. Tener una edad morfológica más avanzada respecto a su edad cronológica podría favorecer a los deportistas adolescentes a la hora de conseguir mejores marcas y resultados en las competiciones y de esta manera acceder con más facilidad a los programas de tecnificación. El índice de desarrollo corporal modificado (IDCm) se presenta como un método validado, fiable y no invasivo para tener presente el grado de desarrollo y maduración en la selección de talentos deportivos y adecuar las cargas de entrenamiento al estado evolutivo de los deportistas.
Hernández-Hernández, Alberto L; Perez-Jimenez, David
2010-01-01
El Reclutamiento y la Retención (R&R) de participantes es fundamental para el éxito de estudios y para el desarrollo de intervenciones preventivas. El R&R de participantes determina la validez y efectividad de estos programas. En este trabajo examinamos algunos de los factores que facilitan y dificultan el R&R en los proyectos preventivos y ofrecemos algunas alternativas para mejorar los índices de R&R. Realizamos dos estudios, en el primero administramos el Instrumento de Informatión, Motivatión y Conductas-Español (IIMC-E) a un grupo de 26 parejas heterosexuales (52 participantes). En el segundo, entrevistamos a 5 parejas VIH discordantes (10 participantes). Encontramos que el 75% de los/las participantes indicó que su trabajo era una de las principales barreras que dificultan la asistencia a las actividades. Otras barreras son las responsabilidades laborales y familiares. Encontramos que la principal barrera fue el miedo a la revelación del estado serlógico. Los principales facilitadores del R&R son la coordinación adecuada y el seguimiento telefónico ofrecido por parte del personal del proyecto. Concluimos que en el desarrollo e implantación de programas de prevención el investigador/a debe tomar en cuenta la adaptación de aspectos logísticos como la disponibilidad y las necesidades particulares de los/las participantes.
Astronomía Gamma desde El Leoncito
NASA Astrophysics Data System (ADS)
Rovero, A. C.; Colombo, E.; Sahade, J.; Weekes, T. C.
La astronomía gamma, en el extremo de energías detectadas hasta el presente, se encuentra en desarrollo en muchas partes del mundo y proporciona resultados sorprendentes a medida que la tecnología avanza en el desarrollo de nuevos detectores. La técnica Cherenkov Atmosférica es la utilizada para la detección, mediante telescopios en tierra, del efecto secundario causado por la radiación gamma de muy altas energías (E ≈ TeV). Por medio de telescopios o arreglos de detectores y utilizando la técnica mencionada, se han podido detectar algunas fuentes puntuales de mucha importancia astrofísica como la Nebulosa del Cangrejo y la galaxia de núcleo activo Markarian 421. El sistema instalado en San Juan, en cooperación con el grupo de Radiación Gamma del Observatorio Whipple, está constituído por tres colectores de 1.5m que registran pulsos de luz generados por las cascadas de partículas producidas por rayos cósmicos de todo tipo al entrar en la atmósfera terrestre. El sistema opera por barrido en ascención recta de la fuente observada que, para esta etapa del experimento, es el Centro Galáctico. Esta fuente extensa es conocida como emisor gamma de energías inferiores al TeV y ha sido observada anteriormente en este rango de energía desde el hemisferio norte pero con elevaciones bajas, situación no óptima para este tipo de técnica. Se presentan los primeros resultados del análisis de los datos obtenidos observando la región del Centro Galáctico, luego de dos años de observaciones, así como una descripción de la técnica Cherenkov Atmosférica y del equipo utilizado en la experiencia.
The Scale Shift of Cocalero Movements in Peru and Bolivia
2013-09-01
ix LIST OF ACRONYMS AND ABBREVIATIONS AAPHC-AHMPA Asociación de Agricultores y Productores de Hoja de Coca del Alto Huallaga, Monzón y Padre...Abad ADN Acción Democrática Nacional AIDESEP Asociación Interétnica de Desarrollo de la Selva Peruana ANAPCOCA Asociacion Nacional de Productores de...Productores Agricolas CONPACCP Confederación Nacional de Productores Agropecuarios de las Cuencas Cocaleras de Perú CORAH Control y Reducción del
Colombia’s Resurrection: Alternative Development is the Key to Democratic Security
2004-09-01
regional economic strength. This implies 73 Sesin. 74 Departamento Nacional de Planeación (DNP), Bases del Plan Nacional de Desarrollo “Hacia un...Estado Comunitario .” Page 54 (Web version). 38 that the government is willing to adopt more flexible
Sistema Planeta-Satélite. Simulación orbital y potenciales gravitatorios
NASA Astrophysics Data System (ADS)
Medina, C.; Carrillo, M.
Se presenta un programa (desarrollado en Quick Basic 4.5) que simula, en tres dimensiones, el movimiento orbital de un satélite (o luna) alrededor de un planeta, al tiempo que calcula y grafica, en un plano, el potencial gravitatorio del sistema en función de la distancia al planeta. Para la simulación orbital, se emplea la matriz de transformación entre el sistema del planeta y el plano orbital. Para el cálculo y graficación del potencial se aplica un desarrollo en serie hasta el segundo orden, que da cuenta del efecto de achatamiento de los polos, en caso de que éste exista. Las longitudes de los ejes del planeta, la masa de éste y del satélite, sus tamaños aparentes, y los parámetros orbitales son introducidos por el usuario.
2017-05-23
restricciones en su país de origen, en cuyo caso, la publicación posterior o venta de este manuscrito con derecho de autor no es permisible. ii REPORT ...condiciones del resto de las comarcas indígenas del país. Esto sería a su vez de gran beneficio para el país, porque se colocaría en un nuevo... de desarrollo a beneficio de estas etnias. La falta de interés hacia las poblaciones indígenas se ve reflejada en el mayor índice de pobreza del
Hernández-Hernández, Alberto L.; Perez-Jimenez, David
2012-01-01
Compendio El Reclutamiento y la Retención (R&R) de participantes es fundamental para el éxito de estudios y para el desarrollo de intervenciones preventivas. El R&R de participantes determina la validez y efectividad de estos programas. En este trabajo examinamos algunos de los factores que facilitan y dificultan el R&R en los proyectos preventivos y ofrecemos algunas alternativas para mejorar los índices de R&R. Realizamos dos estudios, en el primero administramos el Instrumento de Informatión, Motivatión y Conductas-Español (IIMC-E) a un grupo de 26 parejas heterosexuales (52 participantes). En el segundo, entrevistamos a 5 parejas VIH discordantes (10 participantes). Encontramos que el 75% de los/las participantes indicó que su trabajo era una de las principales barreras que dificultan la asistencia a las actividades. Otras barreras son las responsabilidades laborales y familiares. Encontramos que la principal barrera fue el miedo a la revelación del estado serlógico. Los principales facilitadores del R&R son la coordinación adecuada y el seguimiento telefónico ofrecido por parte del personal del proyecto. Concluimos que en el desarrollo e implantación de programas de prevención el investigador/a debe tomar en cuenta la adaptación de aspectos logísticos como la disponibilidad y las necesidades particulares de los/las participantes. PMID:23264700
McNew, Lance B; Hunt, Lyla M; Gregory, Andrew J; Wisely, Samantha M; Sandercock, Brett K
2014-01-01
Wind energy is targeted to meet 20% of U.S. energy needs by 2030, but new sites for development of renewable energy may overlap with important habitats of declining populations of grassland birds. Greater Prairie-Chickens (Tympanuchus cupido) are an obligate grassland bird species predicted to respond negatively to energy development. We used a modified before–after control–impact design to test for impacts of a wind energy development on the reproductive ecology of prairie-chickens in a 5-year study. We located 59 and 185 nests before and after development, respectively, of a 201 MW wind energy facility in Greater Prairie-Chicken nesting habitat and assessed nest site selection and nest survival relative to proximity to wind energy infrastructure and habitat conditions. Proximity to turbines did not negatively affect nest site selection (β = 0.03, 95% CI = −1.2–1.3) or nest survival (β = −0.3, 95% CI = −0.6–0.1). Instead, nest site selection and survival were strongly related to vegetative cover and other local conditions determined by management for cattle production. Integration of our project results with previous reports of behavioral avoidance of oil and gas facilities by other species of prairie grouse suggests new avenues for research to mitigate impacts of energy development. Efectos del Desarrollo de la Energía Eólica sobre la Ecología de Anidación de Gallinas de la Gran Pradera en Pastizales Fragmentados Resumen Se calcula que la energía eólica aportará el 20% de las necesidades energéticas de los Estados Unidos para el 2030, pero nuevos sitios para el desarrollo de energía renovable pueden traslaparse con hábitats importantes de poblaciones declinantes de aves de pastizal. La gallina de la Gran Pradera (Tympanuchus cupido) es una especie de ave obligada de pastizal que se pronostica responderá negativamente al desarrollo energético. Usamos un diseño ADCI modificado para probar los impactos del desarrollo de la energía eólica sobre la ecología reproductiva de las gallinas en un estudio de 5 años. Ubicamos 59 y 185 nidos antes y después del desarrollo, respectivamente, de una instalación de energía eólica de 201 MW en el hábitat de anidación de las gallinas y estudiamos la selección de sitio de anidación y la supervivencia de nidos en relación con la proximidad a la infraestructura y las condiciones de hábitat. La proximidad con las turbinas no afectó negativamente a la selección de sitios de anidación (β = -0.3, 95% CI = -0.6–0.1). En su lugar, la selección de sitios de anidación y la supervivencia estuvieron fuertemente relacionadas con la cobertura vegetal y otras condiciones locales determinadas por el manejo de la producción de ganado. La integración de los resultados de nuestro proyecto con reportes previos de la evitación conductual de instalaciones de petróleo y gas por otras especies de pastizales sugiere nuevas vías para que la investigación mitigue los impactos del desarrollo energético. PMID:24628394
Flores Navarro-Pérez, Carmen; González-Jiménez, Emilio; Schmidt-RioVilla, Jacqueline; Meneses-Echávez, José Francisco; Correa-Bautista, Jorge Enrique; Correa-Rodríguez, María; Ramírez-Vélez, Robinson
2016-07-19
Objetivos: los objetivos de este estudio fueron analizar el nivel nutricional en una población de niños y adolescentes colombianos y determinar la posible relación entre el nivel nutricional y el estado nutricional según el índice de masa corporal (IMC) y la circunferencia de cintura (CC).Material y métodos: estudio transversal en 6.383 niños y adolescentes de entre 9 y 17,9 años de edad, de Bogotá, Colombia. Se aplicó de manera autodiligenciada el cuestionario Krece Plus validado en el estudio enKid como indicador del nivel nutricional con las categorías alto (test ≥ 9), medio (test 6-8) y bajo (test ≤ 5). Se tomaron medidas de peso, talla, CC, y se calculó el IMC como marcadores del estado nutricional.Resultados: de la población general, el 57,9% eran chicas (promedio de edad 12,7 ± 2,3 años). En todas las categorías del IMC, más del 50% de chicos y chicas siguen una dieta de muy baja calidad, que empeora progresivamente con el avance en edad. En ambos sexos, se observaron tendencias entre un nivel nutricional muy bajo con el desarrollo de sobrepeso. Asimismo, la obesidad abdominal por CC se relacionó con una puntuación baja en el Krece Plus en ambos sexos.Conclusiones: en escolares de Bogotá, una dieta de muy baja calidad se relacionó con alteraciones del estado nutricional (IMC y CC), especialmente entre chicas y adolescentes. Estos resultados deben alentar el desarrollo de intervenciones orientadas a mejorar los hábitos nutricionales entre los escolares colombianos.
NASA Astrophysics Data System (ADS)
Isidro Villamizar, Gloria Maria
Este estudio utiliza metodologia de investigacion cualitativa, con el proposito de describir, analizar y evaluar los procesos de diseno y desarrollo de un modelo de accesibilidad que consiste en estrategias de ensenanza de las matematicas para estudiantes con impedimentos visuales matriculados en el curso de Astronomia Descriptiva en la UPR. Se utilizaron las siguientes estrategias para recopilar la informacion, 1) reflexiones de la investigadora en el proceso de diseno y desarrollo de las lecciones adaptadas, que se registraron en un diario reflexivo. 2) entrevista semiestructurada luego de haber trabajado las lecciones de aprendizaje adaptadas con los participantes. 3) observaciones y notas de la investigadora del trabajo de los participantes. Para obtener la informacion de los participantes se obtuvo los permisos institucionales necesarios; se seleccionaron los participantes y se validaron los instrumentos; se realizo el desarrollo de las lecciones adaptadas con los participantes; y finalmente, se analizo la informacion obtenida. El diseno de las lecciones de aprendizaje adaptadas se hizo siguiendo las recomendaciones curriculares de los temas de matematicas aplicados en el curso de Astronomia Descriptiva realizado por la investigadora durante su semestre de internado. El testimonio de las voces de los participantes se obtuvo del proceso de desarrollo de las lecciones de aprendizaje adaptadas de temas seleccionados de conceptos matematicos requeridos en el curso de Astronomia Descriptiva y de la entrevista semiestructurada con los participantes, luego de haber trabajado las lecciones de aprendizaje. Para el desarrollo de las lecciones de aprendizaje, se utilizaron materiales tactiles adaptados, materiales tactiles disenados y materiales disponibles comercialmente. Los textos de las lecciones se imprimieron en tinta y en Braille. Se exhorta a disenar y desarrollar estrategias de ensenanza accesibles, considerando como recursos para evaluar su efectividad a personas con impedimentos visuales. El utilizar estrategias de aprendizaje accesibles de acuerdo a las necesidades individuales de los estudiantes, contribuye para que los estudiantes con impedimentos visuales descubran, exploren, investiguen y formulen sus propias conclusiones durante su proceso de aprendizaje.
Amaya-Castellanos, Maritza Alejandra; Morales-Ruan, María Del Carmen; Uribe-Carvajal, Rebeca; Jiménez-Aguilar, Alejandra; Salazar-Coronel, Araceli Apolonia; Martínez-Tapia, Brenda; Shamah-Levy, Teresa
2018-03-01
Introducción: Se implementó un modelo de capacitación en orientación alimentaria para la población beneficiaria y el personal operativo del Programa de Abasto Rural (PAR) de Diconsa, el cual es una iniciativa social de ayuda alimentaria que abastece productos básicos y complementarios, además de brindar capacitación en localidades de alta marginación en México. Objetivo: Documentar la utilización de la Metodología de Capacitación Multimedial (MCM) en el desarrollo de un esquema de capacitación sobre orientación alimentaria y su implementación en la población beneficiaria del PAR, a través de la propia estructura operativa del PAR. Metodología: El modelo se fundamenta en la MCM, integrada por cuatro elementos didácticos e indivisibles que conforman el paquete pedagógico multimedial (PPM), compuesto a su vez por tres videos y rotafolios, material impreso, prácticas y las relaciones interpersonales. Los ejes temáticos fueron: alimentación correcta para una vida saludable, alimentación materno-infantil, elecciones saludables y gasto familiar. El modelo fue replicado en cascada en los tres niveles operativos del PAR (responsables de capacitación, supervisores operativos y beneficiarios del PAR), con un componente de multiplicación horizontal, e implementado como piloto en cuatro estados de México. Resultados: Se observó un cambio positivo sobre los conocimientos en alimentación correcta en todos los niveles de capacitación, principalmente en los beneficiarios del PAR. La evaluación del proceso mostró conocimientos previos de los responsables de capacitación en los temas, buen desempeño como facilitadores, y habilidades de presentación y manejo del grupo de los supervisores operativos. A partir de las evaluaciones y del acompañamiento en la prueba piloto, fueron modificados las actividades, las estrategias y los materiales educativos del PPM. Conclusiones: La capacitación multimedial y la educación nutricional promueven procesos de cambio y desarrollo comunitario, posibles a través de la toma de conciencia y la puesta en práctica de acciones que favorecen la salud.
Discussing the challenges associated with estimating and interpreting toxicant exposures and health risks from biomonitoring data. This extended abstract was translated in Spanish and published in Acta Toxicologica Argentina.
Los grandes telescopios ópticos e infrarrojos
NASA Astrophysics Data System (ADS)
Rodríguez-Espinosa, J. M.
Recientemente se han puesto en funcionamiento telescopios de 8 y 10 metros de diámetro de su espejo primario que están significando un gran avance en las capacidades observacionales de la Astronomía moderna. Igualmente en nuestro país se está construyendo el Gran Telescopio de Canarias (GTC) que situará a la Astronomía española en la vanguardia de esta disciplina. En mi charla hablaré de las oportunidades observacionales que suponen estos grandes telescopios para la Astronomía moderna. Hablaré del GTC y del esfuerzo español por ser actores principales del desarrollo de la Astronomía moderna. Por último, mostraré brevemente los proyectos futuros de grandes telescopios que se están proponiendo a ambos lados del Atlántico.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Resilva, S.; Obra, G.; Zamora, N.
Quality control procedures for Bactrocera philippinensis Drew and Hancock 1994 (Diptera: Tephritidae) used in sterile insect technique (SIT) programs were established in the mass rearing facility at the Philippine Nuclear Research Institute. Basic studies on pupal irradiation, holding/packaging systems, shipping procedures, longevity, sterility studies, and pupal eye color determination in relation to physiological development at different temperature regimes were investigated. These studies will provide baseline data for the development of quality control protocols for an expansion of B. philippinensis field programs with an SIT component in the future. (author) [Spanish] Los procedimientos de control de calidad para Bactrocera philippinensis Drewmore » y Hancock 1994 (Diptera: Tephritidae) usados en programas de la tecnica de insecto esteril (TIE) fueron establecidos en la facilidad de cria en masa del Instituto Filipino de Investigacion Nuclear. Estudios basicos sobre la irradiacion de las pupas, sistemas de almacenaje/empaque, procedimientos del envio, longevidad, estudios de esterilidad y la determinacion del color de ojo de la pupa en relacion con el desarrollo fisiologico en regimenes diferentes de temperatura fueron investigados. Estos estudios proveeran una linea de informacion basica para el desarrollo de protocolos de control de calidad para una expansion de los programas de campo para B. philippinensis con un componente de TIS en el futuro. (author)« less
NASA Astrophysics Data System (ADS)
Garcia-Ramirez, Jaime Antonio
En esta investigacion, se desarrollo un instrumento que permite medir percepciones relacionadas al contexto de constriccion del conocimiento cientifico. Se examinaron instrumentos existentes y se encontro que el VOSTS (Views on science, technology, and society), instrumento desarrollado empiricamente en Canada por Aikenhead, Ryan y Fleming, podia traducirse y validarse en el contexto cultural puertorriqueno. El instrumento es extenso, consta de 113 reactivos, cada uno con una premisa basica relacionada a la tematica ciencia, tecnologia y sociedad y un numero de alternativas relacionadas a la premisa que oscila entre siete y trece. Se delimito su utilizacion a los quince reactivos identificados por los autores como relacionados a la construccion social del conocimiento cientifico. Metodologicamente, se procedio a utilizar el modelo de adaptacion intercultural, que permite que el instrumento desarrollado satisfaga las dimensiones de equivalencia semantica, de contenido, tecnica, de criterio y conceptual, atemperado asi al instrumento original. Se cumplio con este proposito mediante la traduccion de la version original en ingles al espanol y viceversa. Se utilizaron comites para examinar la traduccion y la retro-traduccion del instrumento. Se realizo una prueba piloto con estudiantes universitarios de nuevo ingreso, utilizando el instrumento traducido para asegurar su intelegibilidad. La confiabilidad del instrumento se determino mediante la intervencion de un panel de expertos quienes clasificaron las distintas posiciones dentro de cada reactivo en: realista, con merito e ingenua; se transformaron estas opciones en valores numericos lo que permitio establecer una escala Likert para cada una. Se suministro el instrumento a una muestra de estudiantes universitarios de nuevo ingreso con caracteristicas similares a las de la poblacion puertorriquena en cuanto a ejecucion en las pruebas de aptitud verbal y matematica del College Board. Los resultados de sus contestaciones fueron transformados numericamente para poder obtener el coeficiente de correlacion de Spearman-Brown para el instrumento (0.661, p < 0.01). El analisis de las contestaciones de los estudiantes refleja percepciones diversas y, en algunos casos, contradictorias con respecto al contexto de construccion del conocimiento cientifico.
ERIC Educational Resources Information Center
Katz, Lilian G.
To help parents address those aspects of their child's development which may need special encouragement, support, or intervention, this digest delineates 11 categories of behavior for assessment. Parents should not be alarmed if their children are having difficulty in only a few categories, and they should not judge their children's permanent…
Assessing the Productive Vocabulary of Spanish-English Bilingual Toddlers from Low-Income Families
ERIC Educational Resources Information Center
Mancilla-Martinez, Jeannette; Pan, Barbara Alexander; Vagh, Shaher Banu
2011-01-01
This study investigates the utility and validity of the MacArthur-Bates Communicative Development Inventory (CDI) for use with low-income parents and their 24- to 36-month-old Spanish-English bilingual children (n = 79). Issues in the interpretation of the integrated CDI/Inventarios del Desarrollo de Habilidades Comunicativas (IDHC) score to index…
ERIC Educational Resources Information Center
Patrinos, Harry Anthony; Ariasingam, David Lakshmanan
Central government's supply-side expansions of schooling have not equally benefited all members of society, especially girls, indigenous peoples, tribal groups, disadvantaged minorities, and the poor. Public spending on education is often inefficient, higher education is subsidized at primary education's expense, and costs are becoming…
Questions about Brain Development = Preguntas sobre el desarrollo del cerebro.
ERIC Educational Resources Information Center
Southeastern Regional Vision for Education (SERVE), Tallahassee, FL.
Noting that new research shows that a baby's earliest years shape how he or she grows later in life, this brochure, in English- and Spanish-language versions, provides brief answers to some important questions parents may have about their baby's brain. The questions answered are: (1) "Why is brain development a popular subject lately?; (2)…
Consentimiento informado: una praxis dialogica para la investigacion
Mondragon-Barrios, Liliana
2009-01-01
El consentimiento informado es un proceso, en el que una persona acepta participar en una investigation, conociendo los riesgos, beneficios, consecuencias o problemas que se puedan presenter durante el desarrollo de la misma. El objetivo de este trabajo es reunir las caracteristicas del proceso de consentimiento informado (PCI) pare que su discernimiento y cumplimiento posibilite el ejercicio etc° dialogico, reflexivo y responsable del investigador. Se presentan los resultados de una extensa revision de les elementos del PCI, desde sus cornponentes hasta su fundamento etico y legal, incluyendo los mites y realidades que existen sobre el formato de consentimiento informado come recurso legal de protection. El consentimiento informado no es un formato establecido que los investigadores repliquen, se trata de que la praxis del PCI sea una tarea cotidiana dentro de la investigation con seres humanos, como comunicaciOn deliberative y critica, responsable y comprometida entre dos agentes morales, investigador-investigado. PMID:19507477
NASA Astrophysics Data System (ADS)
Rivera Pacheco, Andres
El proposito de esta investigacion, un estudio cualitativo de caso, fue comparar y contrastar el curriculo vigente de la Escuela de Optometria de la UIAPR con las competencias y estandares requeridos por las agencias de acreditacion y de revalida. Con este proposito, decidimos realizar una revision y un analisis de documentos: el prontuario de cada uno de los cursos de los curriculos implantados en el 1993 y en el 2001; las competencias y estandares establecidos por las agencias de revalida y de acreditacion; y las estadisticas en las que se analiza el porcentaje de estudiantes que aprueban cada una de las partes de los examenes de revalida entre el 1998 al 2003. Se realizaron entrevistas dirigidas para dar apoyo y complementar la revision y el analisis de estos documentos. Los participantes de las entrevistas fueron tres estudiantes de la clase de optometria del 2004 (ultima clase del curriculo del 1993); tres estudiantes de la clase de optometria del 2005 (primera clase graduanda del curriculo vigente) y tres profesores y/o directores de los Departamentos de Ciencias Basicas, Ciencias Clinicas y Cuidado al Paciente. Esta investigacion se enmarco en el modelo de evaluacion curricular de discrepancia de Malcolm Provus y en el modelo de desarrollo basado en competencias. Uno de los hallazgos mas importantes del estudio es que los cambios que se implantaron al curriculo del 2001 no han logrado que los estudiantes mejoren su ejecucion en los examenes de revalida. Por otro lado, se encontro que el curriculo vigente atiende completamente los estandares de la practica de Optometria, pero no las competencias. Esta informacion fue validada mediante el uso de una tabla de cotejo para el analisis de los cursos y de la informacion obtenida de las entrevistas. El estudio determina y concluye que existen discrepancias entre los prontuarios de los cursos del curriculo y las competencias requeridas por la agencia de revalida. Segundo, que el Departamento de Ciencias Basicas es el que presenta mas deficiencias en el desarrollo de las competencias. El investigador recomienda disenar e implantar un curriculo basado en competencias y proveer formacion en didactica y procesos de aprendizaje a los profesores.
ERIC Educational Resources Information Center
Morales-Roman, Gildrette M.
2012-01-01
Since the twentieth century to present, the role of women in society has undergone fundamental changes. Women, today, has assumed many different task and new roles, becoming part of professional workforce and increasing level of education by aspiring a higher education gaining access to leadership positions. The purpose of this qualitative…
ERIC Educational Resources Information Center
Moses, Britani Creel
2010-01-01
The purpose of this study was to predict the third grade English reading TAKS scores while considering the same students' native language, Spanish, reading level as assessed by a state-approved reading assessment, the Evaluacion del desarrollo de la lectura (EDL), from the end of the second grade year. In addition, this study was been designed to…
NASA Astrophysics Data System (ADS)
Santacruz Sarmiento, Neida M.
Este estudio se enfoco en los "misconception" y lagunas conceptuales en temas fundamentales de Fisica como son Equilibrio Termodinamico y Estatica de fluidos. En primer lugar se trabajo con la identificacion de "misconceptions" y lagunas conceptuales y se analizo en detalle la forma en que los estudiantes construyen sus propias teorias de fenomenos relacionados con los temas. Debido a la complejidad en la que los estudiantes asimilan los conceptos fisicos, se utilizo el metodo de investigacion mixto de tipo secuencial explicativo en dos etapas, una cuantitativa y otra cualitativa. La primera etapa comprendio cuatro fases: (1) Aplicacion de una prueba diagnostica para identificar el conocimiento previo y lagunas conceptuales. (2) Identificacion de "misconceptions" y lagunas del concepto a partir del conocimiento previo. (3) Implementacion de la intervencion por medio de modulos en el topico de Equilibrio Termodinamico y Estatica de Fluidos. (4) Y la realizacion de la pos prueba para analizar el impacto y la efectividad de la intervencion constructivista. En la segunda etapa se utilizo el metodo de investigacion cualitativo, por medio de una entrevista semiestructurada que partio de la elaboracion de un mapa conceptual y se finalizo con un analisis de datos conjuntamente. El desarrollo de este estudio permitio encontrar "misconceptions" y lagunas conceptuales a partir del conocimiento previo de los estudiantes participantes en los temas trabajados, que fueron atendidos en el desarrollo de las distintas actividades inquisitivas que se presentaron en el modulo constructivista. Se encontro marcadas diferencias entre la pre y pos prueba en los temas, esto se debio al requerimiento de habilidades abstractas para el tema de Estatica de Fluidos y al desarrollo intuitivo para el tema de Equilibrio Termodinamico, teniendo mejores respuestas en el segundo. Los participantes demostraron una marcada evolucion y/o cambio en sus estructuras de pensamiento, las pruebas estadisticas de t-pareada fueron significativas para ambos modulos a pesar que en la pos prueba no todos llegaron a la respuesta correcta. El analisis cualitativo de las respuestas de los participantes confirmo la dificultad de remover "misconception" y lagunas conceptuales.
TRANSMISIÓN VERTICAL DE HTLV-1 EN EL PERÚ
Villaverde, Jorge Alarcón; Romaní, Franco Romaní; Torres, Silvia Montano; Zunt, Joseph R.
2012-01-01
La infección por el virus linfotrópico humano de células T tipo 1 (HTLV-1) ha sido descrita en muchas áreas del mundo, como en los países del Caribe, Japón, África, Oceanía y en Sudamérica. En la presente revisión definimos la endemicidad del HTLV-1 en el país, planteando cuatro criterios epidemiológicos. Luego discutimos el tema central de la revisión: la transmisión vertical del HTLV-1, que en nuestro país sería uno de los principales mecanismos de transmisión. Dentro del desarrollo de este aspecto en particular, presentamos una estimación de la tasa de transmisión vertical y los factores de riesgo asociados con la transmisión vertical sobre la base de una revisión exhaustiva de estudios nacionales y extranjeros. Con esta revisión pretendemos dar una primera aproximación al estudio de la trasmisión vertical de HTLV-1, un aspecto poco estudiado en nuestro medio. PMID:21537777
Accounting for the Impact of Conservation on Human Well-Being
Milner-Gulland, EJ; Mcgregor, JA; Agarwala, M; Atkinson, G; Bevan, P; Clements, T; Daw, T; Homewood, K; Kumpel, N; Lewis, J; Mourato, S; Palmer Fry, B; Redshaw, M; Rowcliffe, JM; Suon, S; Wallace, G; Washington, H; Wilkie, D
2014-01-01
Conservationists are increasingly engaging with the concept of human well-being to improve the design and evaluation of their interventions. Since the convening of the influential Sarkozy Commission in 2009, development researchers have been refining conceptualizations and frameworks to understand and measure human well-being and are starting to converge on a common understanding of how best to do this. In conservation, the term human well-being is in widespread use, but there is a need for guidance on operationalizing it to measure the impacts of conservation interventions on people. We present a framework for understanding human well-being, which could be particularly useful in conservation. The framework includes 3 conditions; meeting needs, pursuing goals, and experiencing a satisfactory quality of life. We outline some of the complexities involved in evaluating the well-being effects of conservation interventions, with the understanding that well-being varies between people and over time and with the priorities of the evaluator. Key challenges for research into the well-being impacts of conservation interventions include the need to build up a collection of case studies so as to draw out generalizable lessons; harness the potential of modern technology to support well-being research; and contextualize evaluations of conservation impacts on well-being spatially and temporally within the wider landscape of social change. Pathways through the smog of confusion around the term well-being exist, and existing frameworks such as the Well-being in Developing Countries approach can help conservationists negotiate the challenges of operationalizing the concept. Conservationists have the opportunity to benefit from the recent flurry of research in the development field so as to carry out more nuanced and locally relevant evaluations of the effects of their interventions on human well-being. Consideración del Impacto de la Conservación sobre el Bienestar Humano Resumen Los conservacionistas cada vez más se comprometen con el concepto del bienestar humano para mejorar el diseño y la evaluación de sus intervenciones. Desde la convención de la influyente Comisión Sarkozy en 2009, los investigadores del desarrollo han estado refinando las conceptualizaciones y los marcos de trabajo para entender y medir el bienestar humano y están comenzando a convergir con un entendimiento común de cuál es la mejor forma de hacer esto. En la conservación el término bienestar humano tiene un uso amplio, pero existe la necesidad de la orientación en su operación para medir los impactos de las intervenciones de la conservación sobre la gente. Presentamos un marco de trabajo para entender el bienestar humano que podría ser útil particularmente en la conservación. El marco de trabajo incluye tres condiciones: cumplir con las necesidades, perseguir objetivos y experimentar una calidad satisfactoria de vida. Resumimos algunas de las complejidades involucradas en la evaluación de los efectos del bienestar de las intervenciones de la conservación con el entendimiento de que el bienestar varía entre la gente, en el tiempo y con las prioridades del evaluador. Los retos clave para la investigación de los impactos del bienestar de las intervenciones de la conservación incluyen la necesidad de crear una colección de estudios de caso para trazar lecciones generalizables: hacer uso del potencial de la tecnología moderna para apoyar la investigación del bienestar; y contextualizar espacial y temporalmente las evaluaciones de los impactos de la conservación sobre el bienestar dentro del marco más amplio del cambio social. Existen caminos que atraviesan la confusión que rodea al término bienestar, y los marcos de trabajo existentes, como el del acercamiento de Bienestar en Países en Desarrollo, pueden ayudar a los conservacionistas a negociar los obstáculos de la operación del concepto. Los conservacionistas tienen la oportunidad de beneficiarse del frenesí reciente de investigación en el campo del desarrollo para así realizar evaluaciones más matizadas y relevantes localmente de los efectos de sus intervenciones sobre el bienestar humano. PMID:24641551
NASA Astrophysics Data System (ADS)
Kozameh, C. N.
El proyecto µARGO propone el desarrollo, construcción y operación del Observatorio Espacial de Rayos Gamma, que operará en una órbita terrestre. Este observatorio constará de un telescopio con capacidad de medir simultáneamente dirección de incidencia y polarización de rayos Gamma en dos rangos de energía: 50 KeV - 3 MeV y 10 MeV - 1 GeV. Para ello se usarán detectores de silicio de última generación y microelectrónica adaptada a la configuración. La masa total en órbita del observatorio estará en el orden de los 60 - 100 kg. dependiendo de la geometría adoptada lo que permitirá minimizar costos de desarrollo y construcción, sin perder por ello calidad en su misión científica. ? Desde el punto de vista energético μARGO cubrirá el rango cubierto por COMPTEL y EGRET del CGRO, duplicando como mínimo la resolución angular de ambos con una reducción de peso de dos órdenes de magnitud. En adición, μARGO podr´ medir la polarización incidente de los rayos energéticos. Si bien existen otros dos proyectos en marcha (GLAST y AGILE) para reemplazar EGRET que serán lanzados antes que μARGO, estos proyectos no están diseñados para medir polarización ni tampoco cubren el rango mas bajo de energía arriba mencionado.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Jimenez, T.; Olson, K.
Esta es la primera de una serie de guias de aplicaciones que el Programa de Energia de Villas de NREL esta comisionando para acoplar sistemas comerciales renovables con aplicaciones rurales, incluyendo agua, escuelas rurales y micro empresas. La guia esta complementada por las actividades de desarrollo del Programa de Energia de Villas de NREL, proyectos pilotos internacionales y programas de visitas profesionales.
ERIC Educational Resources Information Center
Vejarano, Gilberto M.; And Others
This booklet presents the ideas that came out of the Regional Meeting for Adult Literacy and Rural Development. The meeting took place in September 1981 at the Regional Center for Adult Education and Functional Literacy for Latin America (CREFAL) in Mexico. Basically, a discussion of adult literacy in the rural areas of Latin America is presented.…
ERIC Educational Resources Information Center
Organization of American States, Washington, DC.
Some points that may serve as a foundation of experience and reference in the stimulation of mentally retarded children during the years of one through five are presented. Points of development are given for the following breakdowns of time: three months, six months, nine months, 12 months, 18 months, two years, three years, four years, and five…
NASA Astrophysics Data System (ADS)
Ballesteros Benavides, Maria Elvira
Para este trabajo utilizamos el estudio de casos cualitativo que se llevo a cabo en una universidad privada de Puerto Rico. Empleamos como unidad de analisis el concepto de enlace quimico, ionico y covalente. Los participantes fueron los estudiantes de la seccion nocturna del curso de Quimica General I. La investigacion se desarrollo por medio de dos entrevistas de persona a persona, observaciones de las expresiones no verbales y la hoja de identificacion de conceptos. Para la triangulacion tomamos en consideracion las preconcepciones erroneas, las concepciones alternativas y el mapa de conceptos de cada participante. Preparamos un mapa de conceptos para el enlace quimico validado por un comite de expertos. Tambien, elaboramos los mapas de conceptos de los participantes que sirvieron para varios propositos: conocer la estructura conceptual, expresar los logros, hacer comparaciones e identificar la presencia de concepciones alternativas. Entre los hallazgos encontramos que todos los participantes poseen conocimiento previo de los enlaces quimicos ionico y covalente y dentro de ese conocimiento existen preconcepciones erroneas mas numerosas para el enlace ionico. Al principio del semestre el 50% de los participantes demostraron tener "carencia fuerte de conceptos" tanto para el enlace ionico como para el covalente. Al finalizar el semestre encontramos en el 40% de los participantes concepciones alternativas tanto para el enlace ionico como para el covalente y el 90% no lograron distinguir un enlace del otro. Nuestras conclusiones fueron que los participantes sin distincion del aprovechamiento academico demostraron tener la tendencia de "carencia fuerte de conceptos" tanto para el enlace ionico como para el covalente, presentaron dificultad al integrar los conceptos de los enlaces quimicos ionico y covalente que se pusieron de manifiesto al dar los ejemplos. Las preconcepciones erroneas contribuyen en el desarrollo de las concepciones alternativas. Ademas, los participantes no lograron diferenciar los dos enlaces quimicos. Esto implica que reflexionemos sobre la necesidad de revisar tanto las competencias cognoscitivas como la forma de ensenar quimica en el salon de clase. Recomendamos indagar y dar importancia al conocimiento previo de los estudiantes, enfatizar la ensenanza de los conceptos y propiciar el aprendizaje con significado.
Cirugía de los trastornos del comportamiento: el estado del arte
Yampolsky, Claudio; Bendersky, Damián
2014-01-01
Introducción: La cirugía de los trastornos del comportamiento (CTC) se está convirtiendo en un tratamiento más común desde el desarrollo de la neuromodulación. Métodos: Este artículo es una revisión no sistemática de la historia, indicaciones actuales, técnicas y blancos quirúrgicos de la CTC. Dividimos su historia en 3 eras: la primera comienza en los inicios de la psicocirugía y termina con el desarrollo de las tícnicas estereotácticas, cuando comienza la segunda era. Ésta se caracteriza por la realización de lesiones estereotácticas. Nos encontramos transitando la tercera era, que comienza cuando la estimulación cerebral profunda (ECP) comienza a ser usada en CTC. Resultados: A pesar de los errores graves cometidos en el pasado, hoy en día, la CTC está renaciendo. Los trastornos psiquiátricos que se más frecuentemente se tratan con cirugía son: depresión refractaria, trastorno obsesivo-compulsivo y síndrome de Tourette. Además, algunos pacientes con agresividad fueron tratados quirúrgicamente. Hay varios blancos estereotácticos descriptos para estos trastornos. La estimulación vagal puede ser usada también para depresión. Conclusión: Los resultados de la ECP en estos trastornos parecen alentadores. Sin embargo, se necesitan más estudios randomizados para establecer la efectividad de la CTC. Debe tenerse en cuenta que una apropiada selección de pacientes nos ayudará a realizar un procedimiento más seguro así como también a lograr mejores resultados quirúrgicos, conduciendo a la CTC a ser más aceptada por psiquiatras, pacientes y sus familias. Se necesita mayor investigación en varios temas como: fisiopatología de los trastornos del comportamiento, indicaciones de CTC y nuevos blancos quirúrgicos. PMID:25165612
ERIC Educational Resources Information Center
Yate González,Yuly Yinneth; Saenz, Luis Fernando; Bermeo, Johanna Alejandra; Castañeda Chaves, Andrés Fernando
2013-01-01
In this article we report the findings of a two-phase action research study focused on the role of collaborative work in the development of elementary students' writing skills at a Colombian school. This was decided after having identified the students' difficulties in the English classes related to word transfer, literal translation, weak…
ERIC Educational Resources Information Center
Gómez Lobatón, July Carolina
2011-01-01
This pedagogical innovation aims at discovering new ways of interaction that go beyond the unidirectional relationship that is presented in the classrooms most of the times. The innovation considers peers to be active agents in the construction of knowledge and proposes new ways to arrange groups in the classroom so that the arrangement can…
ERIC Educational Resources Information Center
Mireles, S. Raymond
Self-Programmed Counseling, the instructor's guidance, and Self-Programmed Control (SPC), the student's response, was initially developed by Title III Project USTED (United Students and Teachers for Educational Development) for Mexican American students on academic probation to use on a non-credit, special group counseling basis. As part of a…
La dinámica demográfica y la desigualdad educativa en Méxicoa
Giorguli Saucedo, Silvia E.; Vargas Valle, Eunice D.; Ulloa, Viviana Salinas; Hubert, Celia; Potter, Joseph E.
2015-01-01
En este trabajo se presenta una investigación sobre el vínculo entre los procesos educativos y la dinámica demográfica en México. La tradición del pensamiento sobre población y desarrollo ha partido de la hipótesis de que el ritmo de crecimiento poblacional, el tamaño de las familias y la migración influyen sobre la acumulación de capital humano entre la población en edades escolares. Se explora aquí la relación del desempeño educativo de los jóvenes entre 14 y 23 años y la razón de dependencia juvenil, la fecundidad adolescente y la migración interna e internacional; para ello se utilizan datos agregados a escala municipal del año 2000. El análisis incluye indicadores de la oferta educativa municipal basados en estadísticas administrativas de la SEP. PMID:26146427
DOE Office of Scientific and Technical Information (OSTI.GOV)
Nestel, D.; Nemny-Lavy, E.; Alchanatis, V.
The pattern of gas-exchange (CO{sub 2} emission) was investigated for developing Mediterranean fruit fly (medfly) Ceratitis capitata (Wiedemann) pupae incubated at different temperatures. This study was undertaken to explore the usefulness of gas-exchange systems in the determination of physiological age in developing pupae that are mass produced for sterile insect technique projects. The rate of CO{sub 2} emission was measured in a closed flow-through system connected to commercial infrared gas analysis equipment. Metabolic activity (rate of CO{sub 2} emission) was related to pupal eye-color, which is the current technique used to determine physiological age. Eye-color was characterized digitally with 3more » variables (Hue, Saturation and Intensity), and color separated by discriminant analysis. The rate of CO{sub 2} emission throughout pupal development followed a U-shape, with high levels of emission during pupariation, pupal transformation and final pharate adult stages. Temperature affected the development time of pupae, but not the basic CO{sub 2} emission patterns during development. In all temperatures, rates of CO{sub 2} emission 1 and 2 d before adult emergence were very similar. After mid larval-adult transition (e.g., phanerocephalic pupa), digital eye-color was significantly correlated with CO{sub 2} emission. Results support the suggestion that gas-exchange should be explored further as a system to determine pupal physiological age in mass production of fruit flies. (author) [Spanish] En el presente estudio se investigaron los patrones de intercambio gaseoso (emision de CO{sub 2}) en pupas de la mosca de las frutas del Mediterraneo (Ceratitis capitata Wiedemann) incubadas a diferentes temperaturas. El estudio fue realizado con la finalidad de explorar la utilizacion de sistemas de intercambio gaseoso en la determinacion de la edad fisiologica de pupas durante su produccion masiva en proyectos de mosca esteril. La proporcion de emision de CO{sub 2} fue medido en un sistema cerrado de 'flujo a traves del sistema' conectado a un detector infrarrojo de gases. La actividad metabolica de la pupa (emision de CO{sub 2}) fue contrastado al color del ojo de la pupa en desarrollo, que constituye la actual tecnica de determinacion de la edad fisiologica. El color de ojos en pupa fue determinado digitalmente, usando tres variables (Tendencia, Saturacion e Intensidad). Los colores fueron separados utilizando el analisis discriminatorio. Los patrones de emision de CO{sub 2} durante el desarrollo de la pupa sugieren una tendencia de U: una alta actividad metabolica durante la fase inicial de pupacion y transformacion y durante la fase final del adulto. La temperatura de incubacion afecto el tiempo de desarrollo pero no el patron basico de actividad metabolica. La proporcion de emision de CO{sub 2} uno y dos dias antes de la emergencia del adulto fue muy similar para pupas mantenidas en las diversas temperaturas. El color digital del ojo de la pupa se correlaciono significativamente con los patrones de emision de CO{sub 2} detectados a partir de la fase media de la transformacion de larva a adulto. Los resultados soportan la utilizacion de sistemas de intercambio gaseoso como un sistema auxiliar para la determinacion de la edad fisiologica en cria masiva de moscas de la fruta. (author)« less
ERIC Educational Resources Information Center
Abad, José Vicente
2013-01-01
In this article we present the results of a qualitative research study on the pedagogical factors that influence English teaching in four public schools of Medellín, Colombia. Twelve teachers were interviewed regarding three linguistic principles: communicative competence, native language effect, and interlanguage. The data analysis led to the…
ERIC Educational Resources Information Center
Alibakhshi, Goudarz; Dehvari, Najibeh
2015-01-01
English, particularly regarding a foreign language teachers' professional development, has been studied in depth. However, it is not known how Iranian English as a foreign language teachers perceive continuing professional development. This study explored the perceptions of Iranian English as a foreign language teachers of continuing professional…
ERIC Educational Resources Information Center
Correa, Doris
2010-01-01
Drawing on critical, socio-cultural and sociolinguistic theories of writing, text and voice, this ethnographic study examines the challenges that a mature ESL student and her instructors in a university course on Spanish Language Media face as they co-construct a common understanding of academic literacy and voice in an undergraduate General…
Cruz-Sáez, María Soledad; Pascual Jimeno, Aitziber; Wlodarczyk, Anna; Polo-López, Rocío; Echeburúa Odriozola, Enrique
2016-07-19
Introducción: los problemas relacionados con el peso constituyen un problema importante de salud pública debido a su alta prevalencia y a las adversas consecuencias que tienen para la salud.Objetivo: el objetivo principal de este estudio fue analizar si la depresión y la ansiedad tienen un papel mediador en la relación entre la insatisfacción corporal y las conductas de control del peso en chicas adolescentes con sobrepeso.Material y métodos: en el estudio participaron 140 mujeres de 16 a 20 años con sobrepeso. Las participantes tuvieron que cumplimentar la escala de insatisfacción corporal del EDI-2, las escalas de ansiedad y depresión del GHQ-28 y una adaptación de las escalas del EAT survey para evaluar las conductas de control del peso. Para los análisis estadísticos se utilizaron métodos de diferencias de medias, correlaciones y de mediación secuencial.Resultados: las adolescentes con sobrepeso y alta insatisfacción corporal presentaban más sintomatología ansiosa y depresiva, así como mayor cantidad de conductas de control del peso. Los resultados del análisis de mediación secuencial evidencian que el efecto de la insatisfacción corporal en las conductas de control del peso está parcialmente mediado por las variables depresión y ansiedad. Mientras que la sintomatología ansiosa presenta efectos directos e indirectos sobre las conductas de control de peso, la sintomatología depresiva solamente presenta un efecto indirecto.Conclusiones:los resultados del estudio destacan el rol mediador de la sintomatología depresiva y, especialmente, de la ansiedad en el desarrollo de conductas no saludables de control del peso.
Cummins, D
2013-10-22
este artículo discute brevemente la prevalencia de caries, la naturaleza multifactorial de su etiología, el riesgo de caries y el papel y eficacia del fluoruro. Resalta también la investigación sobre el metabolismo bacteriano, que ha aportado conocimientos sobre la defensa natural oral contra la caries y la base para el desarrollo de una nueva tecnología para la prevención diaria y el tratamiento de la caries. Por último, se resume la evidencia que respalda que la tecnología complementa y mejora la eficacia anti-caries de la crema dental con fluoruro. los datos globales muestran que a pesar de la exitosa introducción del fluoruro, la caries dental es una enfermedad prevalente. La experiencia de caries depende del balance entre el consumo de azúcares, la higiene oral y el uso del fluoruro. Hay tres conceptos científicos que son fundamentales en las nuevas mediciones para detectar, tratar y monitorear la caries: (1) la caries dental es un proceso dinámico, (2) la caries dental es un proceso continuo de etapas que van desde reversible (pre-clínica) hasta irreversible (lesiones clínicamente detectables), y (3) el proceso de la caries es un balance de factores patológicos y protectores que pueden modularse para el manejo de la caries. El fluoruro funciona como factor protector al detener y revertir el proceso de la caries, pero el fluoruro no previene los factores patológicos que inician el proceso. Se ha identificado una tecnología novedosa, basada en arginina y un compuesto insoluble de calcio, que está dirigida a la placa dental para prevenir la iniciación del proceso de caries al reducir los factores patológicos. Como los mecanismos de acción de la arginina y el fluoruro son altamente complementarios, se ha desarrollado un nuevo dentífrico que combina la arginina y el fluoruro, y se ha probado clínicamente que brinda una prevención superior contra la caries. Copyright © 2013 Elsevier Ltd. All rights reserved.
La Resonancia J/$$\\psi$$ y Sus Implicaciones Para La Masa Del W (in Spanish)
DOE Office of Scientific and Technical Information (OSTI.GOV)
Sanchez-Hernandez, Alberto
Es un placer agradecer a mi asesor el doctor Heriberto Castilla Valdez por brindarme sus conocimientos, experiencia y paciencia en el desarrollo de esta tesis; tambien quiero agradecer al profesor H.E. Fisk, por su apoyo econemico en mi estancia en Fermilab. De igual forma agradezco a los doctores Arturo Fernandez Telles, Miguel Angel Perez Angen y Rebeca Juarez Wisozka quienes me introdujeron al campo de la fisica experimental de altas energfas. Agradezco tambien a Maribel Rios Cruz, Ruben Flores Mendieta, Juan Morales Corona, Fabiola Vazquez Valencia, Salvador Carrillo Moreno y Cecilia Uribe Estrada por su amistad y compaiierismo durante elmore » desarrollo de mi maestria. Un especial agradecimiento a Ian Adam y Kina Denisenko por su valiosa ayuda, comentarios y discusiones durante mi estancia en Fermilab. Por ultimo quisiera agradecer a mis profesores, amigos y familiares quienes siempre me apoyaron y alentaron y al Consejo N acional de Ciencia y Tecnologfa asf como al Departamento de Fisica de Cinvestav por su apoyo econemlco.« less
NASA Astrophysics Data System (ADS)
López, A.; Giménez Benitez, S.; Fernández, L.
El presente trabajo, es una revisión crítica de la astronomía en la cultura Mocoví, aportando a lo realizado previamente por Lehmann Nistche (Lehmann Nistche, 1924 y 1927) el resultado de nuestro trabajo de campo. Un mayor conocimiento de las cosmovisiones de las etnias de esta área es fundamental para una mejor comprensión de la dispersión de las ideas cosmológicas entre los pueblos aborígenes americanos, dada la importancia del corredor chaqueño como conexión entre las altas culturas andinas, la mesopotamia y la región pampeana (Susnik, 1972). Para ello se realiza una comparación con otras cosmovisiones del área americana. Nuestro aporte se enmarca dentro de las actuales líneas de trabajo mundialmente en desarrollo en Astronomía en la Cultura.
NASA Technical Reports Server (NTRS)
Chen, Y. S.; Farmer, R. C.
1992-01-01
A particulate two-phase flow CFD model was developed based on the FDNS code which is a pressure based predictor plus multi-corrector Navier-Stokes flow solver. Turbulence models with compressibility correction and the wall function models were employed as submodels. A finite-rate chemistry model was used for reacting flow simulation. For particulate two-phase flow simulations, a Eulerian-Lagrangian solution method using an efficient implicit particle trajectory integration scheme was developed in this study. Effects of particle-gas reaction and particle size change to agglomeration or fragmentation were not considered in this investigation. At the onset of the present study, a two-dimensional version of FDNS which had been modified to treat Lagrangian tracking of particles (FDNS-2DEL) had already been written and was operational. The FDNS-2DEL code was too slow for practical use, mainly because it had not been written in a form amenable to vectorization on the Cray, nor was the full three-dimensional form of FDNS utilized. The specific objective of this study was to reorder to calculations into long single arrays for automatic vectorization on the Cray and to implement the full three-dimensional version of FDNS to produce the FDNS-3DEL code. Since the FDNS-2DEL code was slow, a very limited number of test cases had been run with it. This study was also intended to increase the number of cases simulated to verify and improve, as necessary, the particle tracking methodology coded in FDNS.
ERIC Educational Resources Information Center
Rativa Murillo, Hollman Alejandro
2013-01-01
Despite some school efforts to offer students the best second language learning, English language lessons are often taught with an overuse of the mother tongue. Hence, an action research project was conducted in order to discover how to adapt some features of the Sheltered Instruction Observation Protocol (SIOP) component: Lesson delivery, for the…
ERIC Educational Resources Information Center
Correa Díaz, Ana María
2012-01-01
With the new approach to guide the learning process of students with a model based on the development of competences, and in comparison with the traditional lecture-based learning, it is necessary to start working with the teaching modalities that help to achieve this objective. With that in mind, the aim of the study reported in this article was…
ERIC Educational Resources Information Center
de Celis, Margarita
This Child Development Associate (CDA) training module, the thirteenth in a series of 16, provides creative experiences with arts and crafts for young children. Designed for preschool teachers and paraprofessional trainees, the Spanish text offers a variety of craft activities. A list of materials necessary, step-by-step directions and…
ERIC Educational Resources Information Center
de Celis, Margarita
This Child Development Associate (CDA) training module, the twelfth in a series of 16, is designed for preschool teachers and paraprofessional trainees and contains (in four separate sections) games, stories, songs and rhymes in Spanish that can be used in a bilingual, multicultural classroom setting. The module, written in Spanish, offers…
Una propuesta para el desarrollo de un arreglo de síntesis de apertura
NASA Astrophysics Data System (ADS)
Arnal, E. M.
Los estudios llevados a cabo en la transición del hidrógeno neutro a λ~21-cm han contribuído a incrementar nuestro conocimiento acerca de las propiedades globales del medio interestelar, sea este galáctico o extragaláctico. Avances en este campo han sido provocados, a menudo, por la puesta en servicio de radiotelescopios que poseen una mayor resolución angular. Aquí se presenta una propuesta para desarrollar un nuevo instrumento, un interferómetro, que permitirá abrir nuevas líneas de investigación. Este instrumento combinará la técnica de síntesis de apertura con la de espectroscopía de correlación digital, para alcanzar una resolución angular de 1' y un campo de visión de ~1o.7.
McChesney, P.J.
1999-01-01
El McVCO es un generador de frecuencias basado en un microcontrolador que reemplaza al oscilador controlado por voltaje (VCO) utilizado en telemetría analógica de datos sísmicas. Acepta señales de baja potencia desde un sismómetro y produce una señal subportadora modulada en frecuencia adecuada para enlaces telefónicos o vía radio a un lugar remoto de recolección de datos. La frecuencia de la subportadora y la ganancia pueden ser seleccionadas mediante un interruptor. Tiene la opción de poder operar con dos canales para la observación con ganancia alta y baja. El McVCO fue diseñado con el propósito de mejorar la telemetría analógica de las señales dentro de la Pacific Northwest Seismograph Network (PNSN) (Red Sismográfica del Noroeste del Pacífico). Su desarrollo recibió el respaldo del Programa de Geofísica de la Universidad de Washington y del "Volcano Hazards and Earthquake Hazards programs of the United States Geological Survey (USGS) (Programa de Investigaciones de Riesgos Volcánicos y Programa de Investigaciones de Riesgos Sísmicos de los EEUU). Cientos de instrumentos se han construido e instalado. Además de utilizarlo el PNSN, el McVCO es usado por el Observatorio Vulcanológico de Alaska para monitorear los volcanes aleutianos y por el USGS Volcano Disaster Assistance Program (Programa de Ayuda en las Catástrofes Volcánicas del USGS) para responder a crisis volcánicas en otros países. Este manual cubre el funcionamiento del McVCO, es una referencia técnica para aquellos que necesitan saber con más detalle cómo funciona el McVCO, y cubre una serie de temas que requieren un trato explícito o que derivan del despliegue del instrumento.
Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.
Warren, John F; Aldave, Anthony J; Srinivasan, M; Thonar, Eugene J; Kumar, Abha B; Cevallos, Vicky; Whitcher, John P; Margolis, Todd P
2003-11-01
To further characterize the role of the carbohydrate sulfotransferase (CHST6) gene in macular corneal dystrophy (MCD) through identification of causative mutations in a cohort of affected patients from southern India. Genomic DNA was extracted from buccal epithelium of 75 patients (51 families) with MCD, 33 unaffected relatives, and 48 healthy volunteers. The coding region of the CHST6 gene was evaluated by means of polymerase chain reaction amplification and direct sequencing. Subtyping of MCD into types I and II was performed by measuring serum levels of antigenic keratan sulfate. Seventy patients were classified as having type I MCD, and 5 patients as having type II MCD. Analysis of the CHST6 coding region in patients with type I MCD identified 11 homozygous missense mutations (Leu22Arg, His42Tyr, Arg50Cys, Arg50Leu, Ser53Leu, Arg97Pro, Cys102Tyr, Arg127Cys, Arg205Gln, His249Pro, and Glu274Lys), 2 compound heterozygous missense mutations (Arg93His and Ala206Thr), 5 homozygous deletion mutations (delCG707-708, delC890, delA1237, del1748-1770, and delORF), and 2 homozygous replacement mutations (ACCTAC 1273 GGT, and GCG 1304 AT). One patient with type II MCD was heterozygous for the C890 deletion mutation, whereas 4 possessed no CHST6 coding region mutations. A variety of previously unreported mutations in the coding region of the CHST6 gene are associated with type I MCD in a cohort of patients in southern India. An improved understanding of the genetic basis of MCD allows for earlier, more accurate diagnosis of affected individuals, and may provide the foundation for the development of novel disease treatments.
ERIC Educational Resources Information Center
Picón Jácome, Édgar
2012-01-01
In this article I present some findings of an action research study intended to find out to what extent a teacher-student partnership in writing assessment could promote high school students' autonomy. The study was conducted in a U.S. school. Two main action strategies in the assessment process were the use of symbols as the form of feedback…
Vitamina D y riesgo de preeclampsia: revisión sistemática y metaanálisis.
Serrano-Díaz, Norma Cecilia; Gamboa-Delgado, Edna Magaly; Domínguez-Urrego, Clara Lucía; Vesga-Varela, Andrea Liliana; Serrano-Gómez, Sergio Eduardo; Quintero-Lesmes, Doris Cristina
2018-05-01
Introducción. Cada vez son más los hallazgos sobre la relación entre las concentraciones de vitamina D en el ser humano y diversas condiciones clínicas. Hay una gran cantidad de estudios que informan sobre dicha asociación, especialmente con complicaciones obstétricas, incluidas la preeclampsia y la diabetes mellitus de la gestación, entre otras, pero sus resultados todavía no son definitivos, por lo que se requieren estudios de intervención de calidad que confirmen la relación de la vitamina D con dichos resultados.Objetivo. Revisar la información plasmada en estudios en torno al papel de la vitamina D materna y el desarrollo de la preeclampsia.Materiales y métodos. La metodología usada siguió las recomendaciones de la guía Cochrane para la elaboración de revisiones sistemáticas y de la guía del grupo Meta-analysis of Observational Studies in Epidemiology (MOOSE) para los metaanálisis. La búsqueda incluyó estudios observacionales y ensayos clínicos controlados.Resultados. Los niveles bajos de vitamina D, medida con el examen de 25-hidroxivitamina D, son comunes en el embarazo. Los resultados de esta revisión sistemática y del metaanálisis sugieren una asociación inversa entre los niveles de vitamina D y el desarrollo de preeclampsia. Hubo heterogeneidad en los estudios en cuanto a su diseño, población y ubicación geográfica, así como a las definiciones de exposición y resultado. Los ensayos clínicos controlados aleatorizados se excluyeron del metaanálisis.Conclusión. Se encontró una asociación inversa que sugiere que, a mayores concentraciones de vitamina D, menor es la probabilidad de desarrollar preclampsia, a pesar de la heterogeneidad de la medida global en este tipo de análisis.
El Proyecto Gémini: informe actualizado y técnica de observación
NASA Astrophysics Data System (ADS)
Sahade, J.; Lapasset, E.; Levato, H.
Se describirá la situación actual en lo que se refiere al desarrollo del Proyecto Gémini en cuanto a su estructura, faz constructiva y programación general. Se informará sobre los planes a desarrollar en el tiempo de verificación científica y puesta a punto del instrumental, a partir de la primera imagen que se obtenga con el telescopio Gemini Norte. Se presentará, además, el plan operativo para observar con los telescopios Gemini tal cual está concebido hasta la fecha, describiéndose el proceso desde el mismo momento en que un investigador decide presentar una propuesta para observar con uno de los telescopios, hasta el archivo y derechos de propiedad sobre los datos. Se decribe también el ``soft" denominado Observing Tool (OT) que es clave en la planificación científica de Gemini y que puede ser utilizado ``off-line" en cualquier PC con un entorno windows.
Inverse problem in hydrogeology
NASA Astrophysics Data System (ADS)
Carrera, Jesús; Alcolea, Andrés; Medina, Agustín; Hidalgo, Juan; Slooten, Luit J.
2005-03-01
The state of the groundwater inverse problem is synthesized. Emphasis is placed on aquifer characterization, where modelers have to deal with conceptual model uncertainty (notably spatial and temporal variability), scale dependence, many types of unknown parameters (transmissivity, recharge, boundary conditions, etc.), nonlinearity, and often low sensitivity of state variables (typically heads and concentrations) to aquifer properties. Because of these difficulties, calibration cannot be separated from the modeling process, as it is sometimes done in other fields. Instead, it should be viewed as one step in the process of understanding aquifer behavior. In fact, it is shown that actual parameter estimation methods do not differ from each other in the essence, though they may differ in the computational details. It is argued that there is ample room for improvement in groundwater inversion: development of user-friendly codes, accommodation of variability through geostatistics, incorporation of geological information and different types of data (temperature, occurrence and concentration of isotopes, age, etc.), proper accounting of uncertainty, etc. Despite this, even with existing codes, automatic calibration facilitates enormously the task of modeling. Therefore, it is contended that its use should become standard practice. L'état du problème inverse des eaux souterraines est synthétisé. L'accent est placé sur la caractérisation de l'aquifère, où les modélisateurs doivent jouer avec l'incertitude des modèles conceptuels (notamment la variabilité spatiale et temporelle), les facteurs d'échelle, plusieurs inconnues sur différents paramètres (transmissivité, recharge, conditions aux limites, etc.), la non linéarité, et souvent la sensibilité de plusieurs variables d'état (charges hydrauliques, concentrations) des propriétés de l'aquifère. A cause de ces difficultés, le calibrage ne peut êtreséparé du processus de modélisation, comme c'est le cas dans d'autres cas de figure. Par ailleurs, il peut être vu comme une des étapes dans le processus de détermination du comportement de l'aquifère. Il est montré que les méthodes d'évaluation des paramètres actuels ne diffèrent pas si ce n'est dans les détails des calculs informatiques. Il est montré qu'il existe une large panoplie de techniques d'inversion : codes de calcul utilisables par tout-un-chacun, accommodation de la variabilité via la géostatistique, incorporation d'informations géologiques et de différents types de données (température, occurrence, concentration en isotopes, âge, etc.), détermination de l'incertitude. Vu ces développements, la calibration automatique facilite énormément la modélisation. Par ailleurs, il est souhaitable que son utilisation devienne une pratique standardisée. Se sintetiza el estado del problema inverso en aguas subterráneas. El énfasis se ubica en la caracterización de acuíferos, donde los modeladores tienen que enfrentar la incertidumbre del modelo conceptual (principalmente variabilidad temporal y espacial), dependencia de escala, muchos tipos de parámetros desconocidos (transmisividad, recarga, condiciones limitantes, etc), no linealidad, y frecuentemente baja sensibilidad de variables de estado (típicamente presiones y concentraciones) a las propiedades del acuífero. Debido a estas dificultades, no puede separarse la calibración de los procesos de modelado, como frecuentemente se hace en otros campos. En su lugar, debe de visualizarse como un paso en el proceso de enten dimiento del comportamiento del acuífero. En realidad, se muestra que los métodos reales de estimación de parámetros no difieren uno del otro en lo esencial, aunque sí pueden diferir en los detalles computacionales. Se discute que existe amplio espacio para la mejora del problema inverso en aguas subterráneas: desarrollo de códigos amigables alusuario, acomodamiento de variabilidad a través de geoestadística, incorporación de información geológica y diferentes tipos de datos (temperatura, presencia y concentración de isótopos, edad, etc), explicación apropiada de incertidumbre, etc. A pesar de esto, aún con los códigos existentes, la calibración automática facilita enormemente la tarea de modelado. Por lo tanto, se sostiene que su uso debería de convertirse en práctica standard.
Solving Kinetic Equations on GPU’s
2011-01-01
7 Acknowledgments 23 8 Appendix: CUDA pseudo-codes 27 ∗Dipartimento di Matematica del Politecnico di Milano Piazza Leonardo da Vinci 32, 20133 Milano...PERFORMING ORGANIZATION NAME(S) AND ADDRESS(ES) Dipartimento di Matematica del Politecnico di Milano Piazza Leonardo da Vinci 32, 20133 Milano, Italy 8
ERIC Educational Resources Information Center
United Nations Children's Fund, Santiago (Chile). Oficina Regional para les Americas.
One of every two children in developing nations does not complete primary school and four out of ten adults do not read or write. Of these ten, six are women. There were 44 million illiterate adults in Latin America in 1985, and of the 66 million school age children, 8.5 million were not in school. Thirty million of these children lived in…
Cano, Luz Helena; Acosta, María Natalia; Pulido, Adriana
2018-05-01
Introducción. La detección temprana del riesgo de problemas emocionales y del comportamiento en niños puede contribuir al desarrollo de estrategias que promuevan la salud mental desde la primera infancia. En Colombia no existe una herramienta validada para dicha detección.Objetivos. Seleccionar, adaptar y establecer la validez de criterio de una escala de tamización de problemas emocionales y del comportamiento en niños menores de seis años.Materiales y métodos. A partir de una revisión de la literatura y un consenso de expertos, se seleccionó la herramienta Early Childhood Screening Assessment (ECSA). Posteriormente, se llevó a cabo su adaptación lingüística y se determinó la validez de criterio mediante una curva de características de recibidor-operador (Receiver Operating Characteristic, ROC), y se la comparó con el cuestionario Child Behavior Checklist (CBCL 1,5-5). En el estudio participaron 206 cuidadores de niños entre el año y medio y los seis años de edad de la ciudad de Tunja y el municipio de Sopó.Resultados. La puntuación del ECSA presentó una buena correlación con la puntuación t total del CBCL 1,5-5 (ro de Spearman=0,75; p<0,01). La escala ECSA tuvo una sensibilidad de 86 % y una especificidad de 82 % al establecer un punto de corte de 24 para la población estudiada.Conclusión. En este primer estudio de adaptación y validación de la versión en español de la escala ECSA, se detectaron buenos valores de sensibilidad y especificidad para la tamización de problemas emocionales y del comportamiento en la primera infancia.
Valero Gaspar, Teresa; Del Pozo de la Calle, Susana; Ruiz Moreno, Emma; Ávila Torres, Osé Manuel; Varela-Moreiras, Gregorio; Cuadrado Vives, Carmen
2016-11-29
Introducción: a finales del siglo xx, no se conocía con precisión si la comida del comedor escolar contribuía adecuadamente a la dieta de la población infantil. Además, este servicio complementario no se contemplaba en el proyecto educativo del centro pese a considerarse fundamental en todas sus dimensiones.Objetivo: describir el origen y desarrollo del programa de comedores escolares de la Comunidad de Madrid (CM) en 15 años desde su implantación.Métodos: se elaboró una normativa a cumplir por las empresas de restauración, y que contemplaba aspectos nutricionales y de composición y variedad de los menús, que se utilizó en los concursos para acceder a la prestación del servicio de comedor escolar, publicados en los años 2001, 2002, 2005, 2009 y 2013. Además se realizaron visitas acreditadas a los centros sin previo aviso para verifi car el cumplimiento de la documentación aportada durante el concurso.Resultados: los criterios más actuales sobre programación y elaboración de menús escolares se recogen en el Pliego de Prescripciones Técnicas del año 2013 (C-504/001-2013). Un 92% de las empresas de restauración superaron los cinco concursos habidos en los 15 años de funcionamiento. Hasta el año 2014, se han realizado 755 visitas, revisándose un total de 574 centros.Conclusiones: el programa de comedores escolares de la CM, desde su implementación pionera en España, ha contribuido a la mejora del servicio complementario de comedor. En estos años se han ido incluyendo nuevos requisitos dietéticos y nutricionales que han logrado menús cada vez más ajustados a las recomendaciones de la población escolar.
NASA Astrophysics Data System (ADS)
Ramos Pastrana, Nilsa
El Senado Academico del Recinto de Rio Piedras de la Universidad de Puerto Rico aprobo en el ano academico 2005-2006 la Certificacion 46, que contiene los lineamientos de un nuevo bachillerato. Este nuevo bachillerato introdujo cambios significativos en el curriculo tradicional. Entre ellos se encuentra la reduccion del componente de educacion general y el de Ciencias Biologicas en particular. La reduccion de creditos en el componente de Ciencias Biologicas ha obligado a reevaluar el concepto de cultura cientifica que desarrollan esos cursos. El proposito del estudio consistio en auscultar las percepciones de los profesores de las Facultades de Administracion de Empresas, Humanidades, Ciencias Sociales, Ciencias Naturales, Educacion y Estudios Generales del Recinto de Rio Piedras de la Universidad de Puerto Rico en torno al concepto de cultura cientifica, los contenidos disciplinares del curso de Ciencias Biologicas y la reduccion de creditos en el nuevo bachillerato. Las preguntas que guiaron la investigacion fueron: ¿cuales son las percepciones que tienen los profesores de las Facultades de Administracion de Empresas, Ciencias Sociales, Estudios Generales, Ciencias Naturales, Humanidades y Educacion, en torno al concepto de cultura cientifica y los contenidos disciplinares del curso de Ciencias Biologicas? ¿cuales son las percepciones que tienen los profesores de Ciencias Biologicas en torno al concepto cultura cientifica y los contenidos disciplinares del curso de Ciencias Biologicas? ¿existen diferencias significativas por facultad, genero, experiencia, rango y nombramiento en las percepciones que tienen los profesores del Recinto de Rio Piedras de la Universidad de Puerto Rico sobre los elementos que caracterizan la cultura cientifica y los contenidos biologicos que deben tener los egresados del Recinto? ¿que implicaciones curriculares tienen estos testimonios en el desarrollo del concepto de cultura cientifica en el nuevo bachillerato? Para realizar la investigacion se utilizo una metodologia cuantitativa y la herramienta para lograrlo fue una encuesta. La encuesta se analizo estadisticamente mediante analisis de frecuencias y por cientos, prueba ANOVA, prueba t, pruebas Post Hoc de Tukey y de Levene. Tambien se realizo nuevamente una prueba de confiabilidad mediante el alfa de Cronbach. Los resultados reflejaron que los profesores de las Facultades de Administracion de Empresas, Ciencias Sociales, Ciencias Naturales, Educacion, Humanidades, Estudios Generales y el Departamento de Ciencias Biologicas tienen una percepcion muy positiva del concepto de cultura cientifica, los contenidos curriculares de Ciencias Biologicas y del nuevo bachillerato.
Estudio participativo para el desarrolllo de un instrumento de observación de violencia escolar
Medina Santiago, Nilda G.; Rivera, Tania Cruz; Rodríguez, Maryanes Trenche; Báez Ávila, Loggina S.
2018-01-01
La violencia en las escuelas es reconocida como un problema de salud pública a nivel mundial que impacta negativamente el proceso de enseñanza-aprendizaje. Sin embargo, en Puerto Rico las estadísticas oficiales y los medios de comunicación generalmente se enfocan en hechos aislados de violencia extrema donde se utilizan armas o se destruye propiedad y no recogen formas de violencia más comunes que suelen ocurrir a diario en las escuelas. En este estudio se utilizó el Instrumento de Observación de Violencia Escolar (INOVE), preparado con el insumo de las comunidades escolares participantes del Proyecto VIAS (Violence and Asthma Health Disparity Network) de la Universidad del Este (UNE), para recopilar información acerca de las características de la violencia en dos escuelas puertorriqueñas. Entre los hallazgos del estudio se destacan diferencias por sexo en cuanto a categorías de violencia observadas y la observación de agresividad en juegos e interacciones entre estudiantes. Los datos recopilados han servido de base para la toma de decisiones en cuanto a la prevención de la violencia en las escuelas participantes y tienen implicaciones para el desarrollo de estrategias y programas de prevención. PMID:29643972
Ysunza, Alberto M; Diez-Urdanivia, Silvia; Pérez-Gil, Sara E
2017-12-01
Resumen: En este artículo presentamos el proyecto de capacitación llevado a cabo en comunidades de la sierra y costa de Oaxaca, México, desde 1991, por el Centro de Capacitación Integral para Promotores Comunitarios (CECIPROC). La decisión de hacer este trabajo en Oaxaca responde a que ese estado ocupa uno de los primeros lugares de marginación y de desnutrición en menores de 5 años. El objetivo es describir un modelo de capacitación y compartir parte de las experiencias derivadas, tanto del modelo como del trabajo realizado en las distintas áreas (nutrición y alimentación, salud comunitaria, ecología y etnobotánica, y educación y organización), por promotores mujeres y hombres en sus comunidades. La experiencia obtenida en 24 años muestra la factibilidad técnica y social del proyecto en el ámbito de la salud, el reconocimiento social del proyecto del CECIPROC como un organismo civil que ha aportado alternativas como solución a la problemática de salud, el hacer suyo el proyecto por algunos promotores y los diferentes obstáculos a los que se ha enfrentado. Enfatizamos el hecho de que la situación socioeconómica y política prevaleciente en el estado de Oaxaca es una limitante para el buen desarrollo de los programas colectivos de salud, e insistimos en la necesidad de compartir nuestras experiencias para que puedan ser utilizadas en la planificación y ejecución de otros proyectos.
MÁRQUEZ, LILLIAN ARVELO; SANTIAGO, NILDA G. MEDINA
2015-01-01
This article aims to describe the experience of Proyecto VIAS - RIMI (Violence & Asthma - Research Infrastructure in Minority Institutions) of Universidad del Este in Puerto Rico to achieve one of its main objectives: the development and promotion of mentoring in research. It describes the way the project has operationalized the mentoring process to empower mentees, as well as the innovative ways in which university professors have received training to become better mentors. The authors argue that mentoring has been fundamental to achieve the goals of the students who have participated in the project and recommend continuing such initiatives in academia. PMID:27066161
DOE Office of Scientific and Technical Information (OSTI.GOV)
Caceres, C.; Wornoayporn, V.; Islam, S.M.
The operational use of Mediterranean fruit fly (medfly) Ceratitis capitata (Wiedemann), genetic sexing strains in Sterile Insect Technique applications can be maximized by developing methods for effective shipment of eggs. This would enable a central production facility to maintain the relevant mother stocks and large colonies to supply eggs to satellite centers that would mass produce only males for irradiation and release. In order to achieve this, the survival of medfly embryos of different ages was assessed after storage at 5, 10, 15, 20, and 25 deg. C in water for different periods of time. Survival was affected by allmore » 3 variables, i.e., embryo age, water temperature, and length of storage. Storage of embryos at any temperature for 120 h resulted in almost no survival. Controlling the age of the embryo at the time of the temperature treatment is crucial for the success of this procedure. Embryos collected between 0 to 12 h after oviposition and pre-incubated at 25 deg. C for 12 h provide a suitable 72 h window for shipment when maintained between 10 to 15 deg. C. Under these conditions, no significant reductions in survival during all the developmental stages were observed. (author) [Spanish] El uso operacional de cepas de la mosca del mediterraneo Ceratitis capitata (Wiedemann) en las cuales es posible separar los sexos a traves de mecanismos geneticos para su utilizacion en la Tecnica del Insecto Esteril (TIE), puede ser maximizado con el desarrollo de metodos efectivos para el envio y transporte de huevos. Esto permite que un laboratorio de produccion centralizada mantenga las respectivas colonias responsables por la produccion de huevos para este abastecer laboratorios satelites responsables por la produccion masiva de solamente machos para subsiguiente irradiacion y liberacion. Para ser posible esta alternativa fue evaluada la supervivencia de embriones de diferentes edades despues de su almacenamiento en agua a 5, 10, 15, 20 y 25 deg. C por diferentes periodos de tiempo. La supervivencia fue afectada por las 3 variables evaluadas, la edad del embrion, la temperatura del agua y el periodo de almacenamiento. El almacenamiento de los embriones a cualquier temperatura por 120 horas dio como resultado la casi no supervivencia. Una edad controlada de los embriones a tratar es crucial para el exito de este protocolo. Embriones colectados entre 0 a 12 horas despues de la oviposicion y su previa incubacion a 25 deg. C por 12 horas brinda un margen de hasta de 72 horas de duracion del almacenamiento y transporte, siempre y cuando estos se mantengan en una temperatura de entre 10 a 15{sup o}C. En estas condiciones, fue registrada una reduccion no significante de la supervivencia de los diferentes estados de desarrollo. (author)« less
Seligmann, Hervé
2016-01-01
In mitochondria, secondary structures punctuate post-transcriptional RNA processing. Recently described transcripts match the human mitogenome after systematic deletions of every 4th, respectively every 4th and 5th nucleotides, called delRNAs. Here I explore predicted stem-loop hairpin formation by delRNAs, and their associations with delRNA transcription and detected peptides matching their translation. Despite missing 25, respectively 40% of the nucleotides in the original sequence, del-transformed sequences form significantly more secondary structures than corresponding randomly shuffled sequences, indicating biological function, independently of, and in combination with, previously detected delRNA and thereof translated peptides. Self-hybridization decreases delRNA abundances, indicating downregulation. Systematic deletions of the human mitogenome reveal new, unsuspected coding and structural informations. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.
NASA Astrophysics Data System (ADS)
Pintos Ganón, Reina; Fernández, Julio Angel
2008-07-01
We present in this work the development of astronomy in Uruguay since the colony times up to the present, stressing in particular those aspects related to the formal as well as informal teaching of astronomy. The first antecedents of astronomical studies in our country go back to the beginnings of the XVIIIth century related to the scientific expeditions from Europe coming to our shores. The teaching of astronomy was generalized at the high school level as soon as the end of the XIXth century, while itsintroduction at the university level happened much later, around the middle of the last century. We analyze the current situation of this subject, its problems, and some measures to strengthen its development. Se presenta en este trabajo el desarrollo de la astronomía en el Uruguay desde la época colonial hasta el presente, destacando en particular los aspectos vinculados a su enseñanza tanto formal como informal. Los primeros antecedentes de estudios astronómicos datan de la época colonial relacionados con las expediciones científicas del Viejo Mundo que llegaban a nuestras costas. La enseñanza de la Astronomía se generalizó en el ámbito de los estudios secundarios ya a fines del siglo XIX, mientras que en la Universidad su arribo fue mucho más tardío, a mediados del siglo pasado. Se analiza la situación actual de esta disciplina, sus problemas, y algunas medidas para fortalecer su desarrollo. Apresentamos, neste trabalho, o desenvolvimento da Astronomia no Uruguai desde a época colonial até o presente, destacando em particular os aspectos vinculados ao seu ensino tanto formal quanto informal. Os primeiros antecedentes de estudos astronômicos em nosso país datam da época colonial relacionados com as expedições científicas do Velho Mundo que chegavam às nossas costas. O ensino da Astronomia se generalizou no âmbito dos estudos secundários já no final do século XIX, enquanto que sua introdução na universidade foi muito mais tardia, em meados do século passado. Se analisa a situação atual dessa disciplina, seus problemas, e algumas medidas para fortalecer seu desenvolvimento.
Osorio-Parraguez, Paulina; Espinoza, Adriana
2016-06-01
En el presente artículo se da a conocer una estrategia de intervención llevada a cabo con adultos mayores en la comuna de Paredones, sexta región de Chile, con posterioridad al terremoto y tsunami del 27 de febrero 2010 en Chile, en el contexto de una investigación sobre fortalezas y vulnerabilidades desplegadas por este grupo etario, con posterioridad a un desastre natural. Se presenta una descripción del desarrollo metodológico de la intervención y de los sustentos teóricos y conceptuales en los que se basa. Como resultado de este proceso, se propone una estrategia que trabaje a través de la identificación de las propias experiencias y fortalezas de los sujetos. De tal forma se minimizan los efectos negativos de los determinantes sociales de la salud (como la edad y el lugar de residencia) en contexto de crisis; permitiendo a los adultos mayores fortalecer sus recursos individuales y colectivos, en pro de su bienestar psicosocial. © The Author(s) 2015.
Expresiones de afecto de madres bilingües, Bilingual mothers' expressions of affect
Shiro, Martha
2015-01-01
En la interacción de 10 madres bilingües con sus hijos de 30 meses se analiza la expresión de afectividad en L1 y en L2. Se identificaron las expresiones de emoción, volición y actitud epistémica en 30 interacciones espontáneas: i. 10 madres (español L1) hablando en L1; ii. 10 madres (español L1) hablando en inglés L2; y iii. 10 madres (inglés L1) hablando en L1. Los resultados sugieren que los usos de L2 difieren de los de L1 (inglés o español): la expresión de volición y actitud epistémica se asemeja al inglés L1, mientras que la expresión de las emociones se acerca al español L1. Estos hallazgos permiten explicar los usos del lenguaje expresivo de los bilingües y ayudan a determinar sus efectos en el desarrollo del lenguaje PMID:25844004
Rodríguez, Yarimar Rosa; Díaz, Nelson Varas
2008-01-01
El proceso de estigmatización asume una devaluación de la persona debido a una característica o marca que haya sido identificada socialmente y que permita que se le describa como diferente. Desde que se desató la epidemia del VIH/SIDA, vivir con la enfermedad ha sido señalado de manera social como una marca estigmatizante. Las manifestaciones de dicha estigmatización se han documentado entre profesionales de la salud. Este estigma puede afectar los servicios de salud que las personas que viven con VIH/SIDA reciben de estos profesionales. Los objetivos de esta investigación fueron explorar: 1) la percepción que tienen estudiantes y profesionales de la salud sobre su nivel de competencia para ofrecer servicios a personas que viven con VIH/SIDA, 2) las opiniones de éstos sobre el tipo de adiestramiento profesional recibido y la necesidad del mismo, y 3) la manifestación de actitudes estigmatizantes como indicadores de necesidad de adiestramiento profesional. La muestra total del estudio estuvo compuesta por 80 de diversas profesiones de la salud. Los resultados reflejan que algunos/as de los/as participantes han recibido formación en VIH pero ésta no ha sido suficiente para contrarrestar las nociones estigmatizantes. Discutimos las implicaciones de los resultados para investigaciones futuras y el desarrollo de intervenciones con vías de minimizar las nociones estigmatizantes en los escenarios de salud.
Curioso, Walter H.; Blas, Magaly M.; Kurth, Ann E.; Klausner, Jeffrey D.
2010-01-01
Avances tecnológicos innovadores como Internet, computadoras personales de bolsillo, teléfonos celulares y otros equipos son un arsenal en crecimiento en el esfuerzo de impedir y controlar el VIH y otras infecciones de transmisión sexual (ITS). A pesar que existe una diversidad de tecnologías de información y comunicación en diferentes etapas de desarrollo para la prevención del VIH e ITS, la investigación en esta área se encuentra aún en crecimiento, y el impacto en la incidencia de enfermedad, las evaluaciones con diseños rigurosos y los estudios económicos todavía son muy limitados. Sin embargo, algunas de estas evidencias son prometedoras y poseen un gran potencial para su uso en nuestro medio. En este artículo hemos realizado una revisión sistemática de la literatura relacionada con el uso de la tecnología aplicada a la prevención y control del VIH e ITS. De ser usada apropiadamente, esta tecnología podría mejorar la vigilancia del VIH y otras ITS, diagnóstico, notificación de parejas, prevención, manejo clínico, y capacitación de profesionales de la salud. PMID:26339254
A small great history of the sister Societies of Developmental Biology in Spain and Portugal.
Palmeirim, Isabel; Aréchaga, Juan
2009-01-01
We revise the historical evolution of the societies devoted to Developmental Biology from the early activities of the Institut International dEmbryologie (IIE), founded in 1911, with particular emphasis on the more recent constitution of the Spanish Sociedad Española de Biología del Desarrollo (SEBD), founded in 1994, and the Portuguese Sociedade Portuguesa de Biologia do Desenvolvimento (SPBD), founded in 2006. We also describe the role played by The International Journal of Developmental Biology (IJDB) in the constitution of the SEBD and its projection and support to international Developmental Biology societies and individual researchers in the world, according to its mission to be a non-for-profit publication for scientists, by scientists.
Desarrollo de una intervención grupal para la prevención del VIH en parejas heterosexuales.
Pérez-Jiménez, David; Escabí Montalvo, Aracelis; Del Carmen Cabrera Aponte, María
2010-01-01
HIV preventive efforts with heterosexual couples are almost nonexistent. We designed a group intervention based on the Information-Motivation-Behavioral Skills model with the aim of increasing male condom use and promoting the practice of mutual masturbation as a safer sex alternative. We carried out a pilot study with four couples to evaluate the feasibility of the intervention and the aspects of content and format that needed to be modified. Findings reflect that participants were very satisfied with the intervention and they found it entertaining and innovative. They were very comfortable with its format, as well as with the activities. The findings confirm the feasibility of this intervention and the need to direct preventive efforts to this population.
Dual Coding Theory, Word Abstractness, and Emotion: A Critical Review of Kousta et al. (2011)
ERIC Educational Resources Information Center
Paivio, Allan
2013-01-01
Kousta, Vigliocco, Del Campo, Vinson, and Andrews (2011) questioned the adequacy of dual coding theory and the context availability model as explanations of representational and processing differences between concrete and abstract words. They proposed an alternative approach that focuses on the role of emotional content in the processing of…
Varas-Díaz, Nelson; Neilands, Torsten B.; Guilamo-Ramos, Vincent; Cintrón Bou, Francheska N.
2009-01-01
El estigma relacionado con el VIH/SIDA continúa siendo un obstáculo para la prevención primaria y secundaria del VIH. Las consecuencias para las personas que viven con la enfermedad han sido muy documentadas y continúan siendo una gran preocupación para las personas que proveen servicios de salud y para aquellas que investigan el tema. Estas consecuencias son preocupantes cuando el estigma emana de profesionales de la salud porque se puede limitar el acceso a los servicios. Uno de los principales obstáculos para la investigación del estigma relacionado con el VIH en Puerto Rico es la falta de instrumentos cuantitativos para evaluar las manifestaciones del estigma entre profesionales de la salud. El objetivo principal de este estudio fue desarrollar y probar las propiedades psicométricas de una escala sobre el estigma relacionado con el VIH/SIDA culturalmente apropiada para personas que proveen servicios de salud puertorriqueñas y desarrollar una versión corta de la escala que pudiera usarse en escenarios clínicos con tiempo limitado. El instrumento desarrollado estuvo basado en evidencia cualitativa recopilada entre profesionales y estudiantes de profesiones de la salud puertorriqueños/as (n=80) y administrado a una muestra de 421 profesionales de la salud en adiestramiento. La escala contenía 12 dimensiones del estigma relacionado con el VIH/SIDA. El análisis cuantitativo corroboró 11 de ellas, teniendo como resultado un instrumento con validez y confiabilidad satisfactoria. Estas dimensiones, a su vez, fueron subcomponentes de un factor de estigma general superior. PMID:20333258
GPS, punto de contacto entre la Astronomía y otras disciplinas
NASA Astrophysics Data System (ADS)
Perdomo, R.
En los primeros años de la pasada década, un grupo de Astrónomos de La Plata iniciaron trabajos de investigación en Geodesia Satelital. En esta presentación se propone repasar sus principales logros y situarlos en el contexto del desarrollo de la disciplina a nivel mundial. Por entonces las aplicaciones prácticas de la disciplina eran indirectas y solo evidentes para los especialistas. Los errores del Posicionamiento Satelital eran de varios metros y en posicionamiento relativo, del orden de medio metro. Estos resultados se lograban al cabo de varios días de medición continuada. En los años siguientes, el sistema GPS alcanzó su nivel operacional y produjo una revolución tanto en lo relacionado con los tiempos de medición como con las precisiones. El grupo de La Plata se desarrolló simultáneamente con GPS, lo que posibilitó su participación actual en diversos temas vigentes: aplicaciones de alta precisión para la materialización de sistemas terrestres de referencia, monitoreo de movimientos de la corteza, contribución con servicios internacionales para la determinación de movimientos tectónicos globales y regionales, monitoreo de la ionósfera a partir de la propagación de las señales, determinación de la ondulación del geoide a escala local, etc. También se generaron muchas aplicaciones prácticas algunas en tiempo real: navegación, apoyo a imágenes aéreas o satelitales, aplicaciones a la agricultura, catastro y ordenamiento territorial, apoyo a relevamientos geofísicos, etc.
Experiencias y avatares en la instalación local del programa ATLAS
NASA Astrophysics Data System (ADS)
Merlo, D. C.; Milone, L. A.
In this paper we briefly describe the steps required for installation of AT- LAS code by Robert Kurucz. Subsequently, we summarize its implementa- tion and its comparison with our code MAPCOR, finding agreement on the structures of pressure when we look deeper layers, but some discrepancies in outer layers due to its limitations. FULL TEXT IN SPANISH
Neuroimagen en la enfermedad de Alzheimer: nuevas perspectivas
Becker, James T.
2012-01-01
Introducción y desarrollo En los próximos 50 años vamos a presenciar un incremento significativo de la población mayor de 65 años y por lo tanto va a aumentar, considerablemente, el número de individuos con riesgo de desarrollar demencias neurodegenerativas, especialmente la enfermedad de Alzheimer (EA). Las estrategias actuales de tratamiento farmacológico y no farmacológico se han centrado en las fases sintomáticas de esta enfermedad y, gradualmente, vamos teniendo una mayor comprensión de los posibles factores de riesgo del síndrome clínico. Conclusiones Los estudios de neuroimagen han sido muy útiles para mostrar los cambios estructurales del envejecimiento normal y patológico, así como también los factores de riesgo para la EA. Los tratamientos apropiados de los factores de riesgo y su posible combinación con tratamientos específicos para la EA podrían prolongar el período presintomático de la EA y, por tanto, mejorar la calidad de vida y disminuir la carga para el paciente, la familia y la sociedad. PMID:20517866
Desarrollo de un receptor polarimétrico en banda S para aplicación en estudios radioastronómicos
NASA Astrophysics Data System (ADS)
Barberis, C. M.; Bava, J. A.; Sanz, A. J.
Desde el punto de vista tecnológico, el objetivo principal de este proyecto es desarrollar un cabezal de receptor en la frecuencia de 3.3 GHz, con una temperatura del sistema de 60 K y un ancho de banda de 140 MHz. El mismo será instalado en el foco primario de un reflector parabólico de 30 metros de diámetro que funcionará como radiómetro en el IAR. El receptor es del tipo polarimétrico, con lo cual permite la posibilidad de obtener las componentes de polarización lineal y circular. Para tal fin el cabezal constará de dos ramas receptoras que amplificarán la señal y la trasladarán a una frecuencia menor, (frecuencia intermedia), permitiendo de esa forma un mejor transporte de la señal a la sala de control para su posterior procesamiento. El receptor, además de tener características polarimétricas, podrá ser usado en el contínuo y en la línea, utilizando las ventajas observacionales y de procesamiento de señal que actualmente posee el IAR.
NASA Astrophysics Data System (ADS)
Kulkarni, Himanshu; Vijay Shankar, P. S.; Deolankar, S. B.; Shah, Mihir
Watershed development programmes provide an opportunity for sustainable management strategies, although currently, they remain largely `supply-side' mechanisms of water resources development. Hydrogeological conditions, community participation and status of groundwater usage are important in evolving strategies on `demand-side' groundwater management. Neemkheda aquifer is a typical low-storage, low-hydraulic conductivity aquifer from a watershed in the dryland regions of Madhya Pradesh State of central India. A shallow unconfined aquifer, it consists of an upper coarse, calcareous sandstone unit underlain by a fine-grained sandstone unit. A `well commune' of seven wells is poised to test the concept of joint groundwater management, wherein wells are mechanisms of tapping a common water source, the Neemkheda aquifer. The strategy for systematic groundwater management in the Neemkheda well commune is based upon the relationship between Transmissivity (T) and Storage coefficient (S), i.e. aquifer diffusivity, and its variation within the aquifer. Wells within a high diffusivity domain tend to dewater more quickly than wells within a low diffusivity domain. A well-use schedule during the dry season, based upon aquifer diffusivity forms the basis of the groundwater management concept. The distribution of local aquifer diffusivities governs the relationship between local and regional aquifer depletion times and forms the basis of the groundwater management exercise being proposed for the Neemkheda aquifer. Los programas de desarrollo de una cuenca hídrica son una oportunidad para el uso de estrategias de gestión sostenible, aunque hoy en día estas siguen siendo principalmente mecanismos para el desarrollo de recursos hídricos con énfasis en la ``oferta''. Las condiciones hidrogeológicas, la participación comunitaria y la condición de utilización del agua subterránea, son importantes en el desarrollo de estrategias para la gestión del agua subterránea, desde el punto de vista de la ``demanda''. El acuífero de Neemkheda es un acuífero típico de almacenamiento bajo y conductividad hidráulica baja, perteneciente a una cuenca hídrica ubicada en las regiones secas del Estado de Madhya Pradesh, en la parte central de India. Un acuífero de tipo libre, somero, formado por una unidad superior de arenisca calcárea de grano grueso, subyacida por una unidad de arenisca de grano fino. Un campo de pozos comunitario compuesto por siete pozos, pone a prueba el concepto de gestión conjunta del agua subterránea, dentro del cual los pozos son mecanismos para usar una fuente de agua común: El acuífero de Neemkheda. La estrategia usada para la gestión sistemática del agua subterránea, en el campo de pozos comunitario de Neemkheda, se basa en la relación existente entre Transmisividad (T) y Coeficiente de Almacenamiento (S), es decir en la Difusividad del Acuífero y en su variación observada dentro del mismo acuífero. Los pozos cuya difusividad esta dentro de un rango alto, tienden a experimentar un descenso en su nivel mas rápidamente que aquellos pozos con una difusividad baja. El concepto de gestión de agua subterránea se basa en un programa especial de operación para cada pozo durante la estación seca, el cual a su vez se basa en la difusividad del acuífero. La distribución de difusividades locales del acuífero rige las relaciones entre las épocas de descensos de nivel en el acuífero a escala regional y local, y además constituyen la base del ejercicio de la gestión del agua subterránea que se esta proponiendo para el acuífero de Neemkheda. Les programmes de développement des bassins versants offrent une occasion de développer des stratégies pour une gestion durable, bien qu' à présent elles restent en grande mesure `le terme source' dans le mécanisme de développement de la ressource en eau. Les conditions hydrogéologiques, la participation de la communauté et l'usage des eaux souterraines sont importants pour le `terme demande' dans les stratégies de gestion des eaux souterraines. L'aquifère de Neemkheda presents des caractéristiques typiques pour un bassin versant dans les régions arides de l'état Madhya Pradesh de l'Inde centrale en ce qui concerne les faible valeurs de la conductivité hydraulique et du coéfficient d'emmagasinement. Il s'agit d'un aquifère phrèatique dont la partie supérieure est constitué par des grès calcaire qui restent sur des grés plus fins. Afin d'essayer le concept de gestion integrée, on a réalisé dans l'aquifère de Neemkheda un captage ayant sept forages qui forment la ressource en eau communale. La stratégie de la gestion systématique du captage est basée sur la relation entre la transmissivité (T), le coéfficient d'emmagasinement (S), donc la diffusivité hydraulique ainsi que sa variation spatiale. Les puits forés dans les zones à grande diffusivité tendent à s'assècher plus vite que ceux creusés dans des zones à faible diffusivité. Le concept de la gestion des eaux souterraines est donc basé sur la distribution spatiale des diffusivités. À partir de ce concept on a développé un programme d'exploitation des forages pendant les saisons sèches. La relation entre les temps d' épuissment locaux et régionaux est determiné par la distribution spatiale de la diffusivitée et forme la base de l'exercice sur la gestion des eaux proposée pour l'aquifère de Neemkheda.
Desarrollo de una intervención grupal para la prevención del VIH en parejas heterosexuales1
Pérez-Jiménez, David; Escabí Montalvo, Aracelis; del Carmen Cabrera Aponte, María
2012-01-01
HIV preventive efforts with heterosexual couples are almost nonexistent. We designed a group intervention based on the Information-Motivation-Behavioral Skills model with the aim of increasing male condom use and promoting the practice of mutual masturbation as a safer sex alternative. We carried out a pilot study with four couples to evaluate the feasibility of the intervention and the aspects of content and format that needed to be modified. Findings reflect that participants were very satisfied with the intervention and they found it entertaining and innovative. They were very comfortable with its format, as well as with the activities. The findings confirm the feasibility of this intervention and the need to direct preventive efforts to this population. PMID:23847716
Molina Villaverde, Raquel
2016-06-03
El cáncer es un problema sanitario de primera magnitud a escala mundial. Su tratamiento es uno de los mayores campos de innovación y desarrollo en medicina. La visión del cáncer como una enfermedad sistémica, heterogénea y de una elevada complejidad hace que los enfermos deban recibir una atención oncológica de calidad, proporcionada por equipos multidisciplinares altamente cualificados. Además de la gran incidencia de malnutrición en estos pacientes, la intervención nutricional precoz puede mejorar su pronóstico, aumentar la calidad de vida y disminuir la tasa de complicaciones de la enfermedad. Por ello, es necesaria una estrecha colaboración entre el oncólogo y el experto en nutrición.
Srivastava, Rishi; Singh, Mohar; Bajaj, Deepak; Parida, Swarup K.
2016-01-01
Development and large-scale genotyping of user-friendly informative genome/gene-derived InDel markers in natural and mapping populations is vital for accelerating genomics-assisted breeding applications of chickpea with minimal resource expenses. The present investigation employed a high-throughput whole genome next-generation resequencing strategy in low and high pod number parental accessions and homozygous individuals constituting the bulks from each of two inter-specific mapping populations [(Pusa 1103 × ILWC 46) and (Pusa 256 × ILWC 46)] to develop non-erroneous InDel markers at a genome-wide scale. Comparing these high-quality genomic sequences, 82,360 InDel markers with reference to kabuli genome and 13,891 InDel markers exhibiting differentiation between low and high pod number parental accessions and bulks of aforementioned mapping populations were developed. These informative markers were structurally and functionally annotated in diverse coding and non-coding sequence components of genome/genes of kabuli chickpea. The functional significance of regulatory and coding (frameshift and large-effect mutations) InDel markers for establishing marker-trait linkages through association/genetic mapping was apparent. The markers detected a greater amplification (97%) and intra-specific polymorphic potential (58–87%) among a diverse panel of cultivated desi, kabuli, and wild accessions even by using a simpler cost-efficient agarose gel-based assay implicating their utility in large-scale genetic analysis especially in domesticated chickpea with narrow genetic base. Two high-density inter-specific genetic linkage maps generated using aforesaid mapping populations were integrated to construct a consensus 1479 InDel markers-anchored high-resolution (inter-marker distance: 0.66 cM) genetic map for efficient molecular mapping of major QTLs governing pod number and seed yield per plant in chickpea. Utilizing these high-density genetic maps as anchors, three major genomic regions harboring each of pod number and seed yield robust QTLs (15–28% phenotypic variation explained) were identified on chromosomes 2, 4, and 6. The integration of genetic and physical maps at these QTLs mapped on chromosomes scaled-down the long major QTL intervals into high-resolution short pod number and seed yield robust QTL physical intervals (0.89–2.94 Mb) which were essentially got validated in multiple genetic backgrounds of two chickpea mapping populations. The genome-wide InDel markers including natural allelic variants and genomic loci/genes delineated at major six especially in one colocalized novel congruent robust pod number and seed yield robust QTLs mapped on a high-density consensus genetic map were found most promising in chickpea. These functionally relevant molecular tags can drive marker-assisted genetic enhancement to develop high-yielding cultivars with increased seed/pod number and yield in chickpea. PMID:27695461
NASA Astrophysics Data System (ADS)
Delgado, Isabel C.
Los modelos de eensenanza y aprendizaje constructivistas conceptualizan el aprendizaje como un proceso activo. El modelo de Aprendizaje Basado en Proyectos (ABPr) se distingue por una serie de componentes, entre los cuales se destaca el aspecto colaborativo y cooperativo como un reto al momento de su implantacion. Son pocas las investigaciones que se concentran en este aspecto del modelo. En este estudio, se analizaron las diversas interacciones que surgen durante la implantacion de una unidad curricular sobre el tema de Geologia de Puerto Rico, la cual se diseno con el modelo ABPr cuyo enfoque es orientacion a proyectos. Particularmente, se examinaron las interacciones sociales que surgen entre los pares y entre pares y docente durante el proceso de planificacion y desarrollo de los productos finales, al igual que las interacciones entre los estudiantes y el material didactico en estas etapas del modelo. La investigacion es de tipo cualitativo e incorpora como diseno el estudio de caso. Las diversas interacciones constituyen la unidad de analisis. En el estudio participaron 19 estudiantes de 9no grado, a quienes se organizaron en 5 grupos colaborativos por temas de interes (Pangea, Placas tectonicas, Volcanes, Tsunamis y Terremotos). Las tecnicas que se utilizaron para recopilar los datos fueron: observaciones participativas, grupos focales y analisis de documentos (cuadernos reflexivos y respuestas de los estudiantes a la pregunta central del proyecto). Para el analisis de los datos se aplico la teoria de actividad (CHAT) que concentra la unidad de analisis en la actividad humana en un contexto particular. Los resultados del estudio senalan que las interacciones entre pares, entre pares y docente, asi como entre estudiantes y material didactico son fundamentales en el proceso de aprendizaje. Una mayor interaccion entre pares durante las etapas de planificar y desarrollar los productos finales de la unidad, promueve una mejor comprension de los conceptos de la unidad, segun evidencia los productos finales del ABPr. La interaccion con el docente es muy importante para mediar los conflictos y desacuerdos que surgen como parte de las interacciones entre pares. Por lo tanto, el uso de diversas estrategias de andamiaje por parte del docente durante las reuniones de los grupos colaborativos es esencial para el exito del modelo ABPr.
Petersen, Michael B; Grigoriadou, Maria; Koutroumpe, Maria; Kokotas, Haris
2012-07-01
Non-syndromic hearing loss is one of the most common hereditary determined diseases in human, and the disease is a genetically heterogeneous disorder. Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of non-syndromic recessive hearing impairment in many countries and are largely dependent on ethnic groups. Due to the high frequency of the c.35delG GJB2 mutation in the Greek population, we have previously suggested that Greek patients with sensorineural, non-syndromic deafness should be tested for the c.35delG mutation and the coding region of the GJB2 gene should be sequenced in c.35delG heterozygotes. Here we present on the clinical and molecular genetic evaluation of a family suffering from prelingual, sensorineural, non-syndromic deafness. A novel c.247_249delTTC (p.F83del) GJB2 mutation was detected in compound heterozygosity with the c.35delG GJB2 mutation in the proband and was later confirmed in the father, while the mother was homozygous for the c.35delG GJB2 mutation. We conclude that compound heterozygosity of the novel c.247_249delTTC (p.F83del) and the c.35delG mutations in the GJB2 gene was the cause of deafness in the proband and his father. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.
RODRÍGUEZ, Yarimar ROSA; DÍAZ, Nelson VARAS
2009-01-01
El proceso de estigmatización asume una devaluación de la persona debido a una característica o marca que haya sido identificada socialmente y que permita que se le describa como diferente. Desde que se desató la epidemia del VIH/SIDA, vivir con la enfermedad ha sido señalado de manera social como una marca estigmatizante. Las manifestaciones de dicha estigmatización se han documentado entre profesionales de la salud. Este estigma puede afectar los servicios de salud que las personas que viven con VIH/SIDA reciben de estos profesionales. Los objetivos de esta investigación fueron explorar: 1) la percepción que tienen estudiantes y profesionales de la salud sobre su nivel de competencia para ofrecer servicios a personas que viven con VIH/SIDA, 2) las opiniones de éstos sobre el tipo de adiestramiento profesional recibido y la necesidad del mismo, y 3) la manifestación de actitudes estigmatizantes como indicadores de necesidad de adiestramiento profesional. La muestra total del estudio estuvo compuesta por 80 de diversas profesiones de la salud. Los resultados reflejan que algunos/as de los/as participantes han recibido formación en VIH pero ésta no ha sido suficiente para contrarrestar las nociones estigmatizantes. Discutimos las implicaciones de los resultados para investigaciones futuras y el desarrollo de intervenciones con vías de minimizar las nociones estigmatizantes en los escenarios de salud. PMID:20011236
Curioso, Walter H.; García, Patricia J.; Castillo, Greta M.; Blas, Magaly M.; Perez-Brumer, Amaya; Zimic, Mirko
2011-01-01
RESUMEN Para mejorar la salud global y bienestar de una población se requiere de recursos humanos capacitados, no solo en el campo de la medicina y salud, sino también en el campo de la informática. Desafortunadamente, los programas de entrenamiento e investigación en informática biomédica en países en desarrollo son escasos y poco documentados. El objetivo del presente trabajo es reportar los resultados del primer Taller Internacional de Expertos en Informática para la región andina que se llevó a cabo en marzo de 2010 en Lima y que incluye la descripción de nueve casos de estudio procedentes de instituciones de América Latina. En el taller participaron 23 expertos latinoamericanos, quienes discutieron la necesidad de entrenamiento e investigación multidisciplinaria en informática biomédica en áreas prioritarias para América Latina. Además, se estableció la Red QUIPU debido a la necesidad de ampliar y consolidar una red de investigación y entrenamiento a nivel regional y global. PMID:21152740
Dual coding theory, word abstractness, and emotion: a critical review of Kousta et al. (2011).
Paivio, Allan
2013-02-01
Kousta, Vigliocco, Del Campo, Vinson, and Andrews (2011) questioned the adequacy of dual coding theory and the context availability model as explanations of representational and processing differences between concrete and abstract words. They proposed an alternative approach that focuses on the role of emotional content in the processing of abstract concepts. Their dual coding critique is, however, based on impoverished and, in some respects, incorrect interpretations of the theory and its implications. This response corrects those gaps and misinterpretations and summarizes research findings that show predicted variations in the effects of dual coding variables in different tasks and contexts. Especially emphasized is an empirically supported dual coding theory of emotion that goes beyond the Kousta et al. emphasis on emotion in abstract semantics. 2013 APA, all rights reserved
Ortega-García, J.A.; López-Hernández, F.A.; Sobrino-Najul, E.; Febo, I.; Fuster-Soler, J.L.
2016-01-01
Introducción Medio Ambiente y Cáncer Pediátrico (CP) en la Región de Murcia (RM) es un proyecto de investigación, cuya principal meta es el desarrollo de una cuidadosa historia ambiental pediátrica (HAP) y el uso de sistemas de información geográfica (SIG) para crear mapas de incidencia y analizar la distribución geográfica del CP en la RM. El objetivo es presentar la metodología, el estudio descriptivo y los primeros resultados sobre la incidencia espacial y temporal del CP en la RM (España). Material y métodos Estudio descriptivo y de georreferenciación de todos los casos de CP menores de 15 años, diagnosticados entre el 1 de enero de 1998 y el 31 de diciembre de 2009. Se han asociado a cada caso tres direcciones postales, durante el embarazo, en el período posnatal y en el momento del diagnóstico. También se han utilizado las siguientes variables: sexo, fechas de nacimiento y diagnóstico y el diagnóstico patológico. Resultados No se observa un incremento en la tendencia de la incidencia del CP. La tasa cruda de incidencia fue de 14,3 casos por 100.000 niños menores de 15 años. La razón de incidencia estandarizada es más elevada en el noroeste de la RM. El 30% tienen un domicilio previo al diagnóstico distinto al del embarazo. Conclusiones La integración de la información temporal y espacial de la HAP en un SIG permitirá la identificación y el estudio de conglomerados espacio-temporales a través de un sistema de vigilancia medioambiental que ayude a ponderar la importancia de los factores de riesgo asociados. PMID:21315667
NASA Astrophysics Data System (ADS)
Barbosa Loureda, Oswaldo; Sobral de Araújo, Jéssyca B.
2008-12-01
Education is a field that needs development. For such purposes, there are various methods and tools that suggest ideas in favor of the improvement of the Brazilian people in the pedagogical, psychological and cultural aspects. Teaching is an act that demands a lot of care and responsibility; the behavior and performance of an individual in the society is the result of way that people was educated. However, the area of hard sciences demands a special attention, because the acquired knowledge is essential for the personal development of the individual and the technological future of the country. As an alternative or complementary tool for education it is suggested the use of aerospace element, since they show a vast amount of subjects qualitatively dealing with abilities of great importance for the future professional life of the students. A new Race happens, however this time the goal is not the Moon, but knowledge. El área educacional es un campo que necesita desarrollo. Para esto se dispone de diversos métodos y medios que pueden implantar ideas en pro del avance del pueblo brasilero en los aspectos pedagógicos, psicológicos y culturales. Alfabetizar es un acto que exige mucho cuidado y responsabilidad; el comportamento y desempeño de un individuo en la sociedad es el resultado de la manera en que fue educado. En particular, el área de ciencias exactas exige especial atención, pues los conocimientos adquiridos son imprescindibles para el desarrollo personal del individuo y también para el futuro tecnológico del País. Como medio alternativo o complementar de enseñanza se sugiere el uso de elementos aeroespaciales, debido a que compreende una vasta cantidad de disciplinas cualitativamente involucradas en la adquisición de habilidades de gran importancia para su vida profesional futura. Una nueva Carrera está em marcha, sin embargo esta vez la meta no es la Luna, sino el conocimiento. A área educacional é um campo que necessita de desenvolvimento. Para tal, dispõe-se de diversos métodos e meios que vêm implantar idéias em prol do avanço do povo brasileiro nos aspectos pedagógicos, psicológicos e culturais. Alfabetizar é um ato que exige muito cuidado e responsabilidade; o comportamento e desempenho de um indivíduo na sociedade é resultado da maneira com que ele foi instruído. Contudo, a área de exatas exige especial atenção, pois os conhecimentos adquiridos são imprescindíveis para o desenvolvimento pessoal do individuo, assim como para o futuro tecnológico do País. Como meio alternativo ou complementar de ensino é sugerido o uso de elementos aeroespaciais, devido ao fato de comportar uma vasta quantidade e qualidade de disciplinas envolvidas respectivamente com competências de grande importância para sua vida profissional futura. Uma nova Corrida acontece, porém dessa vez a meta não é a Lua e sim o conhecimento.
Reacciones de intercambio de carga
NASA Astrophysics Data System (ADS)
Errea, L. F.
Se discute la validez de diversas metodologías y su aplicación al estudio de procesos de intercambio de carga electrónico entre iones y blancos atómicos y moleculares. Para energías de impacto entre 0.05 y 5 eV / amu se emplea el método cuántico de la Coordenada de Reacción Común (CRC). A mayores energías, se utiliza el método semiclásico iconal con un desarrollo de la función de onda dinámica en estados moleculares adiabáticos, modificados con un factor de traslación común (FTC). Estos estados pueden obtenerse con cálculos ab initio o empleando potenciales modelo. Cuando la ionización compite con la transferencia de carga, la inclusión de pseudoestados en estos desarrollos permite calcular simultáneamente las secciones eficaces de ambos procesos. Otra técnica utilizada es el método estadístico CTMC. En el tratamiento de colisiones ión-molécula (diatómica) contrastamos la aplicabilidad de distintos métodos, desde la llamada aproximación Franck-Condon hasta un desarrollo en estados vibrónicos, pasando por la aproximación súbita vibro-rotacional, obteniéndose secciones eficaces de captura electrónica total y a estados individuales, así como secciones de excitación vibracional a estados ligados y del continuo (disociación). En todos los casos es necesario calcular superficies de energía y los correspondientes acoplamientos dinámicos entre los estados. La aplicación de estos métodos permite determinar el grado de contaminación de los haces por estados metaestables en un experimento dado, el cambio en los resultados con diferentes isótopos, la importancia de procesos de doble captura, seguida de explosión culombiana, todo ello con precisión comparable a la de medidas experimentales, para sistemas de interés en distintos tipos de plasmas.
Validity of a parent-report measure of vocabulary and grammar for Spanish-speaking toddlers.
Thal, D; Jackson-Maldonado, D; Acosta, D
2000-10-01
The validity of the Fundación MacArthur Inventario del Desarrollo de Habilidades Comunicativas: Palabras y Enunciados (IDHC:PE) was examined with twenty 20- and nineteen 28-month-old, typically developing, monolingual, Spanish-speaking children living in Mexico. One measure of vocabulary (number of words) and two measures of grammar (mean of the three longest utterances and grammatical complexity score) from the IDHC:PE were compared to behavioral measures of vocabulary (number of different words from a language sample and number of objects named in a confrontation naming task) and one behavioral measure of grammar (mean length of utterance from a language sample). Only vocabulary measures were assessed in the 20-month-olds because of floor effects on the grammar measures. Results indicated validity for assessing expressive vocabulary in 20-month-olds and expressive vocabulary and grammar in 28-month-olds.
Marchman, Virginia A; Martine-Sussmann, Carmen
2002-10-01
The validity of two analogous caregiver/parent report measures of early language development in young children who are learning both English and Spanish is examined. Caregiver/parent report indices of vocabulary production and grammar were obtained for 26 children using the MacArthur Communicative Development Inventory: Words & Sentences (CDI; Fenson et al., 1994) and the Inventario del Desarrollo de Habilidades Comunicativas: Palabras y Enunciados (IDHC; Jackson-Maldonado, Bates, & Thal, 1992). Scores were significantly correlated with analogous laboratory measures in both English and Spanish, including a real-object naming task and spontaneous language use during free-play. The findings offer evidence that the CDI and IDHC provide valid assessments of early language milestones in young English- and Spanish-speaking children. Factors that may influence the validity of these tools for use with this population are also discussed.
RETOS EN LA INTERVENCIÓN CON ADOLESCENTES PUERTORRIQUEÑOS/AS QUE MANIFIESTAN COMPORTAMIENTO SUICIDA*
Vélez, Yovanska Duarté; Dávila, Paloma Torres; Hernández, Samariz Laboy
2015-01-01
Presentamos un estudio de caso de una adolescente puertorriqueña con comportamiento suicida. Esta comenzó una Terapia Socio Cognitivo-Conductual para el Comportamiento Suicida (TSCC-CS) de tipo ambulatorio luego de una hospitalización por intento suicida. La TSCC-CS incorpora una perspectiva ecológica y de desarrollo a la terapia cognitivo-conductual. Inicialmente mostró baja autoestima y severos síntomas depresivos y de ansiedad. Al finalizar el tratamiento, manifestó un cambio significativo en su sintomatología clínica y evidenció una mejoría en sus destrezas de manejo. No presentó ideas suicidas durante meses previos, ni durante el seguimiento. El análisis de este caso permitió realizar cambios en el protocolo de tratamiento, particularmente en las sesiones de familia y de comunicación con el fin de aumentar la viabilidad del tratamiento. PMID:26702337
DOE Office of Scientific and Technical Information (OSTI.GOV)
Jones, J.
The Department of Energy of the United States of America works to guarantee provisions of safe energy, reliable and economically accessible to support to one developing economy and to protect the atmosphere. These suggestions and ideas to increase the energy efficiency in their house represent simple ways in which our citizens can contribute to preserve the atmosphere at world-wide level, to reduce the level of contamination of the air and to reserve our natural resources for future generations. [Spanish] El Departamento de Energa de los Estados Unidos de America trabaja para garantizar suministros de energa seguros, confiables y econmicamente accesiblesmore » para apoyar a una economa en desarrollo y proteger el medio ambiente. Estas sugerencias e ideas para aumentar la eficiencia energetica en su casa representan maneras sencillas en que nuestros ciudadanos pueden contribuir a preservar el medio ambiente a nivel mundial, a reducir el nivel de contaminacin del aire y a reservar nuestros recursos naturales para las generaciones futuras.« less
DOE Office of Scientific and Technical Information (OSTI.GOV)
Trocki, L.K.
1989-09-01
The expected economic benefits from development of a geothermal power plant at Platanares in the Department of Copan, Honduras are evaluated in this report. The economic benefits of geothermal plants ranging in size from a 10-MW plant in the shallow reservoir to a 20-, 30-, 55-, or 110-MW plant in the assumed deeper reservoir were measured by computing optimal expansion plans for each size of geothermal plant. Savings are computed as the difference in present value cost between a plan that contains no geothermal plant and one that does. Present value savings in millions of 1987 dollars range from $25more » million for the 10-MW plant to $110 million for the 110-MW plant -- savings of 6% to 25% over the time period 1988 through 2008. 8 refs., 9 figs., 6 tabs.« less
Transboundry air pollution along the United States - Mexico Border
DOE Office of Scientific and Technical Information (OSTI.GOV)
Applegate, H.G.
1984-01-01
Data from the four border state agencies in the United States (Arizona Department of Health Services, California Air Resources Board, New Mexico Health and Environment Department and Texas Air Control Board) plus the Subsecretaria de Mejoramiento Del Ambiente and its successor Secretaria de Desarrollo Urbano y Ecologia in Mexico have been gathered for the past 20 years. In addition, county and city agencies in the United States plus universities in both countries have contributed data for various periods of time. These data are stored in a data bank at the University of Texas at El Paso and updated periodically. Thismore » paper is a distillation of the above data. Transfrontier air pollution has been documented only in El Paso/Cd. Juarez and San Diego/Tijuana along the southern border of the united states. Health effects have been documented only in El Paso/Cd. Juarez.« less
Tian, Ziqiang; Wen, Shiwang; Zhang, Yuefeng; Shi, Xinqiang; Zhu, Yonggang; Xu, Yanzhao; Lv, Huilai; Wang, Guiying
2017-01-01
Lung adenocarcinoma (LUAD) is the primary subtype in lung cancer, which is the leading cause of cancer-related death worldwide. This study aimed to investigate the aberrant expression profiling of long non-coding RNA (lncRNA) in TNM I stage (stage I) LUAD. The lncRNA/mRNA/miRNA expression profiling of stage I LUAD and adjacent non-tumor tissues from 4 patients were measured by RNA-sequencing. Total of 175 differentially expressed lncRNAs (DELs), 1321 differentially expressed mRNAs (DEMs) and 94 differentially expressed microRNAs (DEMIs) were identified in stage I LUAD. DEMI-DEM regulatory network consisted of 544 nodes and 1123 edge; miR-200 family members had high connectivity with DEMs. In DEL-DEM co-expression network, CDKN2B-AS1, FENDRR and LINC00312 had the high connectivity with DEMs, which co-expressed with 105, 63 and 61 DEMs, respectively. DEL-DEMI-DEM network depicted the links among DELs, DEMI and DEMs. Identified DEMs were significantly enriched in cell adhesion molecules, focal adhesion and tight junction of Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways; and enriched in cell adhesion, angiogenesis and regulation of cell proliferation of Gene Ontology biological processes. Quantitative real-time polymerase chain reaction results were generally consistent with our bioinformatics analyses. LINC00312 and FENDRR had diagnostic value for LUAD patients in The Cancer Genome Atlas database. Our study might lay the foundation for illumination of pathogenesis of LUAD and identification of potential therapeutic targets and novel diagnosis biomarkers for LUAD patients. PMID:28881680
Evolution of Nucleotide Punctuation Marks: From Structural to Linear Signals.
El Houmami, Nawal; Seligmann, Hervé
2017-01-01
We present an evolutionary hypothesis assuming that signals marking nucleotide synthesis (DNA replication and RNA transcription) evolved from multi- to unidimensional structures, and were carried over from transcription to translation. This evolutionary scenario presumes that signals combining secondary and primary nucleotide structures are evolutionary transitions. Mitochondrial replication initiation fits this scenario. Some observations reported in the literature corroborate that several signals for nucleotide synthesis function in translation, and vice versa. (a) Polymerase-induced frameshift mutations occur preferentially at translational termination signals (nucleotide deletion is interpreted as termination of nucleotide polymerization, paralleling the role of stop codons in translation). (b) Stem-loop hairpin presence/absence modulates codon-amino acid assignments, showing that translational signals sometimes combine primary and secondary nucleotide structures (here codon and stem-loop). (c) Homopolymer nucleotide triplets (AAA, CCC, GGG, TTT) cause transcriptional and ribosomal frameshifts. Here we find in recently described human mitochondrial RNAs that systematically lack mono-, dinucleotides after each trinucleotide (delRNAs) that delRNA triplets include 2x more homopolymers than mitogenome regions not covered by delRNA. Further analyses of delRNAs show that the natural circular code X (a little-known group of 20 translational signals enabling ribosomal frame retrieval consisting of 20 codons {AAC, AAT, ACC, ATC, ATT, CAG, CTC, CTG, GAA, GAC, GAG, GAT, GCC, GGC, GGT, GTA, GTC, GTT, TAC, TTC} universally overrepresented in coding versus other frames of gene sequences), regulates frameshift in transcription and translation. This dual transcription and translation role confirms for X the hypothesis that translational signals were carried over from transcriptional signals.
Actividad Solar Desde EL Espacio
NASA Astrophysics Data System (ADS)
Rovira, M. G.
1990-11-01
RESUMEN. Se describen los principales descubrimientos realizados por los arti+iciales con instrumentos dedicados a la observaci6n del Sol, durante los dos ultimos ciclos de su acti vi dad. La observaci6n el espacio ha permitido cubrir todas las zonas del espectro no observables desde tierra1 desde el ultravioleta hasta la radiaci6n gamma. Se hace referencia, en particular, a los resultados producidos por los dos grandes observatorios: el Skylab y el SMM. Este ultimo incluy6 un conjunto de instrumentos especialmente coordinados para observar en detalle las fulguraciones solares. Es un resumen para astr6nomos no especializados en la fisica solar, en el que se muestra que la gran riqueza del material observacional acumulado ha resuelto problemas preexistentes y, al mismo tiempo, ha abierto numerosos interrogantes a los que se buscar respuesta con la instrumentaci6n en desarrollo. Finalmente, se mencionan las caracteristicas de los proyectados para la pr6xima decada. : The main discoveries performed by artificial satellites instrumented for the observation of the Sun, during the last two cycles of its activity, are described. The space observations allowed of almost all the spectral regions which are not observable from the ground, from the ultraviolet to the gamma radiation. In particular, we ref er' to the two large solar space observatories: the Skylab and the SMM. The last one included a set 0+ coordinated instruments to observe in detail the solar flares. This is a summary for astronomers not dedicated to solar physics, where we show that the of observational material have solv# d many of the preexistent problems but, at the ame time, it opened many new questions to which the improved instrumentation will try to answer. , the characteristics of the satellites planned the next decade are mentioned. Key : SUN-ACTIVITY - SUN-CORONA - SUN-X-RAYS
Vizuet Vega, Norma Isela; Shamah Levy, Teresa; Gaona Pineda, Elsa Berenice; Cuevas Nasu, Lucía; Méndez Gómez-Humarán, Ignacio
2016-07-19
Introducción: la anemia es un factor de riesgo en la población infantil con consecuencias graves para su crecimiento y desarrollo. Los programas de ayuda alimentaria pueden contribuir a su prevención y control. Objetivo: estudiar la adherencia al consumo de suplementos y su relación con la prevalencia de anemia en niños menores de tres años de edad en San Luis Potosí, México beneficiarios del programa PROSPERA.Métodos: se realizó un análisis comparativo en niños de 12 a 36 meses que consumen diferentes suplementos alimenticios: 414 pertenecientes al grupo de intervención y 334 al de comparación. Se midió la hemoglobina (Hb) por Hemocue clasificando como anémicos a quienes tuvieron valores <110 g/l. Se aplicaron pruebas de t de Student y X2. Se estimaron efectos de intervención mediante el método de diferencias en diferencias y un puntaje de adherencia al consumo de suplementos.Resultados: al final del estudio la prevalencia de anemia disminuyó 11.2 pp en el grupo de intervención y 8.7 pp en el de comparación; la interacción del puntaje de adherencia por suplemento y etapa de observación mostró que la adherencia al consumo de Bebida láctea + Vitaniño reduce el riesgo de presentar anemia (p = 0,14). El consumo de Nutrisano + Vitaniño se asoció con menor riesgo (0,2), ambos con respecto al consumo de Nutrisano.Conclusiones: el programa PROSPERA tuvo efectos importantes en la disminución de las prevalencias de anemia. Se recomienda llevar a cabo acciones para mejorar la adherencia al consumo de suplementos alimenticios, a fIn de mejorar la efectividad de los programas.
Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome.
Natsuga, Ken; Nishie, Wataru; Shinkuma, Satoru; Nakamura, Hideki; Matsushima, Yoichiro; Tatsuta, Aya; Komine, Mayumi; Shimizu, Hiroshi
2011-01-01
Kindler syndrome (KS) is a rare, inherited skin disease characterized by blister formation and generalized poikiloderma. Mutations in KIND1, which encodes kindlin-1, are responsible for KS. c.1089del/1089+1del is a recurrent splice-site deletion mutation in KS patients. To elucidate the effects of c.1089del/1089+1del at the mRNA and protein level. Two KS patients with c.1089del/1089+1del were included in this study. Immunofluorescence analysis of KS skin samples using antibodies against the dermo-epidermal junction proteins was performed. Exon-trapping experiments were performed to isolate the mRNA sequences transcribed from genomic DNA harbouring c.1089del/1089+1del. β1 integrin activation in HeLa cells transfected with truncated KIND1 cDNA was analyzed. Immunofluorescence study showed positive expression of kindlin-1 in KS skin with c.1089del/1089+1del mutation. We identified the exon-8-skipped in-frame transcript as the main product among multiple splicing variants derived from that mutation. HeLa cells transfected with KIND1 cDNA without exon 8 showed impaired β1 integrin activation. Exon-8-coding amino acids are located in the FERM F2 domain, which is conserved among species, and the unstructured region between F2 and the pleckstrin homology domain. This study suggests that exon-8-skipped truncated kindlin-1 is functionally defective and does not compensate for the defects of KS, even though kindlin-1 expression in skin is positive. Copyright © 2010 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.
ESTIGMA Y VIH/SIDA ENTRE PADRES/MADRES Y ADOLESCENTES PUERTORRIQUEÑOS/AS
Pérez, Grace Rosado; Reyes, Glendalys Rivera; Villanueva, Victoria Larrieux; Torres, Gilliam J. Torres; Díaz, Elba Betancourt; Varas-Díaz, Nelson; Villaruel, Antonia
2016-01-01
La comunicación entre padres/madres y adolescentes sobre el tema de la sexualidad es importante para el desarrollo de la salud de personas jóvenes. Dicha comunicación puede verse negativamente impactada por actitudes estigmatizantes hacia el tema del VIH/SIDA. El objetivo de este estudio fue identificar actitudes estigmatizantes hacia el VIH/SIDA entre padres/madres y adolescentes puertorriqueños/as. Este esfuerzo es parte del Proyecto Cuídalos, dirigido a probar una intervención en formato electrónico que busca aumentar la comunicación sobre sexualidad y salud entre padres/madres y adolescentes mediante un diseño experimental con 458 diadas de padres/madres y adolescentes de 13 a 17 años. Para propósitos de este artículo reportamos estadísticas descriptivas sobre estigma hacia el VIH/SIDA con la información recopilada en la medición basal. Tanto adultos/as como adolescentes mostraron actitudes estigmatizantes hacia el VIH/SIDA. A la luz de los resultados es necesario continuar desarrollando intervenciones para la reducción de estigma en esta población. Los/as padres/madres pueden ser un recurso invaluable para reducir el estigma en los/as jóvenes, y prevenir conductas sexuales de riesgo e infecciones. PMID:27099649
Acidic gases and nitrate and sulfate particles in the atmosphere in the city of Guadalajara, México.
Saldarriaga-Noreña, Hugo; Waliszewski, Stefan; Murillo-Tovar, Mario; Hernández-Mena, Leonel; de la Garza-Rodríguez, Iliana; Colunga-Urbina, Edith; Cuevas-Ordaz, Rosalva
2012-05-01
Atmospheric concentrations of nitrous acid, nitric acid, nitrate and sulfate particles were obtained in this study from April to June 2008 in the center of the city of Guadalajara, while concentrations of ozone, sulfur dioxide, nitrogen dioxide and meteorological parameters (temperature and relative humidity), were acquired by the Secretaría del Medio Ambiente para el Desarrollo Sustentable del Estado de Jalisco (SEMADES). The results showed that nitric acid (2.7 μg m(-3)) was 2.7 times higher than nitrous acid (1.0 μg m(-3)). The sulfur dioxide (SO(2)) concentration indicated an opposite trend to sulfate (SO(4) (2-)), with the average concentration of SO(2) (6.9 μg m(-3)) higher in almost the entire period of study. The sulfur conversion ratio (Fs, 24.9%) and nitrogen conversion ratio (Fn, 6.2%), were revealed to be similar to that reported in other urban areas during warm seasons. It is also noted that ozone is not the main oxidizer of nitrogen dioxide and sulfur dioxide. This determination was made by taking into account the slightly positively correlation determined for Fn (r(2) = 0.084) and Fs (r(2) = 0.092) with ozone that perhaps suggests there are other oxidizing species such as the radical OH, which are playing an important role in the processes of atmospheric oxidation in this area.
Sequence variations of the bovine prion protein gene (PRNP) in native Korean Hanwoo cattle
Choi, Sangho
2012-01-01
Bovine spongiform encephalopathy (BSE) is one of the fatal neurodegenerative diseases known as transmissible spongiform encephalopathies (TSEs) caused by infectious prion proteins. Genetic variations correlated with susceptibility or resistance to TSE in humans and sheep have not been reported for bovine strains including those from Holstein, Jersey, and Japanese Black cattle. Here, we investigated bovine prion protein gene (PRNP) variations in Hanwoo cattle [Bos (B.) taurus coreanae], a native breed in Korea. We identified mutations and polymorphisms in the coding region of PRNP, determined their frequency, and evaluated their significance. We identified four synonymous polymorphisms and two non-synonymous mutations in PRNP, but found no novel polymorphisms. The sequence and number of octapeptide repeats were completely conserved, and the haplotype frequency of the coding region was similar to that of other B. taurus strains. When we examined the 23-bp and 12-bp insertion/deletion (indel) polymorphisms in the non-coding region of PRNP, Hanwoo cattle had a lower deletion allele and 23-bp del/12-bp del haplotype frequency than healthy and BSE-affected animals of other strains. Thus, Hanwoo are seemingly less susceptible to BSE than other strains due to the 23-bp and 12-bp indel polymorphisms. PMID:22705734
NASA Astrophysics Data System (ADS)
Rodriguez Plaza, Evelyn
El proposito de esta investigacion fue identificar los componentes de la preparacion en ciencia que deben recibir los estudiantes del Bachillerato en Artes en Educacion Elemental, Nivel Primario, de acuerdo a los documentos que dirigen la reforma de la educacion cientifica en Puerto Rico. Tambien, se identificaron los componentes de los cursos que forman parte de la preparacion en ciencia de estos estudiantes. Se compararon los componentes de la preparacion en ciencia y los componentes de los cursos para determinar congruencias y discrepancias. Con los datos recopilados se identificaron los componentes de los cursos de una secuencia curricular para la preparacion en ciencia de los candidatos a maestros del nivel elemental primario. La secuencia curricular que se propone en esta investigacion incluye cursos de contenido cientifico y de metodologia en la ensenanza de la ciencia disenados para satisfacer las necesidades de los candidatos. Se recomienda que en los procesos para el diseno, la implantacion y la evaluacion de estos cursos participen profesores de ciencia, profesores de educacion y maestros del nivel elemental primario. Todos los cursos de la secuencia curricular deben tener un enfoque constructivista. Las experiencias educativas que se incluyan en los cursos deben aspirar a desarrollar en los candidatos los atributos de la cultura cientifica y actitudes positivas hacia la ciencia y hacia la ensenanza de esta disciplina. El modelaje por parte de los profesores que ensenen los cursos de la secuencia curricular es fundamental en el desarrollo profesional de los candidatos. Se recomienda que en los cursos de contenido cientifico se estudien los conceptos y los conocimientos cientificos que forman parte del curriculo de Kindergarten a tercer grado de forma integrada y con una profundidad universitaria. Estos cursos deben tener un enfoque interdisciplinario e incluir el estudio de la naturaleza de la ciencia y un componente de laboratorio para desarrollar los procesos de la ciencia y las destrezas de la investigacion cientifica. En los cursos de metodologia en la ensenanza de la ciencia se deben estudiar los modelos, los metodos, las estrategias y las tecnicas mas efectivas para la ensenanza y el aprendizaje de la ciencia, asi como las tecnicas de avaluacion.
Identification of Genetic Defects Underlying FXII Deficiency in Four Unrelated Chinese Patients.
Yang, Lihong; Wang, Yingyu; Zhou, Jianpin; Cheng, Xiaoli; Hao, Xiuping; Xie, Haixiao; Jin, Yanhui; Wang, Mingshan
2016-01-01
Congenital factor XII (FXII) dexFB01;ciency is a rare autosomal recessive disorder, characterized by a great variability in its clinical manifestations. In this study, we screened for mutations in the F12 gene of 4 unrelated patients with FXII coagulant activity <10% of that of normal human plasma. To investigate the molecular defects in these FXII-deficient patients, we performed FXII mutation screening. By sequencing all coding exons as well as xFB02;anking intronic regions of the F12 gene, 6 different mutations, including 3 missense mutations (Gly341Arg, Glu502Lys and Gly542 Ser), 1 insertion (7142insertC) and 2 deletions (5741-5742 delCA and 6753-6755delACA), were identixFB01;ed on the F12 gene. Three of them (Gly341Arg, 5741-5742delCA and 6753-6755delACA) are reported here for the first time. Computer-based algorithms predicted these missense mutations to be deleterious. This study has increased our knowledge of the mutational spectrum underlying FXII deficiency. © 2016 S. Karger AG, Basel.
Álvarez, Cristian; Ramírez-Campillo, Rodrigo; Vallejos-Rojas, Andrea; Jaramillo-Gallardo, Javiera; Salas Bravo, Carlos; Cano-Montoya, Johnattan; Celis-Morales, Carlos
2016-03-25
Introducción: obesidad e inactividad física son importantes factores de riesgo para el desarrollo de hipertensión en adultos. No obstante, hay poca evidencia sobre el efecto de estos factores de riesgo en el desarrollo de hipertensión en población infantil. Objetivo: investigar la asociación del estado nutricional, niveles de actividad física y etnicidad con niveles de hipertensión en escolares entre 6 y 13 años de edad. Métodos: un total de 418 escolares de ascendencia étnica europea (n = 311) y mapuche (n = 107) fueron participantes de este estudio transversal. Se midió el peso, talla, índice de masa corporal (IMC) y presión arterial, utilizando protocolos estandarizados. Resultados: no se encontraron diferencias significativas en IMC, estado nutricional y presión arterial entre niños con ascendencia europea y mapuche. No obstante, la prevalencia de prehipertensión (21,3% vs. 11,1%) e hipertensión (28,9% vs. 18,6%) fue significativamente mayor en escolares mapuches en comparación con europeos, respectivamente. Escolares con ascendencia mapuche tienen un mayor riesgo de desarrollar prehipertensión o hipertensión que escolares con ascendencia europea (OR: 1,92 [1,19 a 3,06], p < 0,01). La prevalencia de hipertensión aumenta significativamente en ambos grupos étnicos con el incremento de IMC y bajos niveles de actividad física. Conclusiones: el riesgo de desarrollar prehipertensión o hipertensión es mayor en población infantil ascendiente de mapuches que ascendiente de europeos y este riesgo se ve acentuado con el incremento de obesidad y bajos niveles de actividad física.
"A Constant Transit of Finding": Fantasy as Realisation in "Pan's Labyrinth"
ERIC Educational Resources Information Center
Clark, Roger; McDonald, Keith
2010-01-01
This article considers Guillermo Del Toro's "Pan's Labyrinth" as a text which utilises key codes and conventions of children's literature as a means of encountering the trauma of Fascism. The article begins by placing "Pan's Labyrinth" at a contextual crossroads involving fairy tale and a Spanish cinematic tradition and…
ERIC Educational Resources Information Center
Nava Gómez, Guadalupe Nancy; García, Hilda
2012-01-01
This study focused on investigating whether the teachers' geographical distribution influences their attitudes towards their students' use of code switching. The study was guided by the following research question: Are there differences between teachers' opinions of the north elementary schools and teachers' opinions of the south elementary…
76 FR 68788 - Notice of Lodging of Consent Decree Under the Clean Water Act
Federal Register 2010, 2011, 2012, 2013, 2014
2011-11-07
... (``Dupont'') violations of (1) Sections 301(a), 309(b) and (d), and 402 of the Federal Water Pollution... Regulations Governing the Control of Water Pollution, 7 Del. Admin. Code Sec. 7201. The United States and... DEPARTMENT OF JUSTICE Notice of Lodging of Consent Decree Under the Clean Water Act Notice is...
Koc, Arzuhan; Batar, Bahadir; Celik, Ozlem; Onaran, Ilhan; Tasan, Ertugrul; Sultuybek, Gonul Kanigur
2014-07-01
Hashimoto thyroiditis (HT) is a chronic inflammatory autoimmune disease of thyroid gland affected by interaction of multiple genes and various cytokines. Variants in the genes coding for the NFKB and IKB proteins can be potentially involved in the development of the inflammatory diseases. NFKB, a key transcription factor of the regulation of immune responses, is interesting candidate for association studies about autoimmune disorder. The aim of the present study was to investigate the relationship between NFKB1 and NFKBIA (NFKB1 inhibitor gene) polymorphisms, and the risk of HT in a Turkish Population in the context of IL-6 serum levels which may contribute to susceptibility to the disease. We analyzed the distribution of NFKB1-94ins/del ATTG and NFKBIA 3'UTR A→G polymorphisms using PCR-RFLP method and IL-6 serum levels using ELISA method in 120 HT patients and 190 healthy controls in Turkish population. Although, there was no statistical significant difference in distribution of the genotypes and alleles of NFKB1-94ins/del ATTG or NFKBIA 3'UTR A→G polymorphisms in patients and control subjects as single, ins/ins/GG combined genotype had protective effect on the disease when compared to ins/ins/AG combined genotype as combined genotypes of both polymorphisms. In addition to this finding, IL-6 serum levels in HT patients with del/del genotype were significantly higher than in patients with del/ins genotype (p<0.001). According to the combined genotype analysis of NFKB1-94ins/del ATTG and NFKBIA 3'UTR A→G polymorphisms, IL-6 levels were also higher in patients with del/del genotype when at least one G allele existing (p=0.007). Therefore, our findings suggest that the functional promoter NFKB1-94ins/del ATTG polymorphism was significantly associated with population HT disease through acting by directly modulating IL-6 serum levels. Copyright © 2014 Elsevier GmbH. All rights reserved.
EJERCICIO Y LA DETECCION DEL MAL AGUDO DE MONTAÑA GRAVE
Garófoli, Adrián; Montoya, Paola; Elías, Carlos; Benzo, Roberto
2012-01-01
El Mal Agudo de Montaña (MAM) es un conjunto de síntomas inespecíficos padecidos por sujetos que ascienden rápidamente desde baja a alta altura sin adecuada aclimatación. Usualmente es autolimitado, pero las formas graves (edema pulmonar y cerebral) pueden causar la muerte. La hipoxemia exagerada en reposo está relacionada con el desarrollo de MAM pero su valor predictivo es limitado. Dado que el ejercicio en altura se acompaña de mayor hipoxemia y síntomas, postulamos el valor predictivo de un simple test de ejercicio para pronosticar MAM grave. Se estudió el valor predictivo de la saturación de oxígeno en reposo y ejercicio submáximo a 2 700m y 4 300m en 63 sujetos que ascendían al cerro Aconcagua (6 962m). Se consideró desaturación de oxígeno con ejercicio a una disminución >=5% respecto al reposo. Se utilizó la escala de Lake-Louise para establecer la presencia de MAM grave. 6 sujetos presentaron MAM grave (9.5%) y requirieron evacuación. La saturación de oxígeno en reposo a 2 700m no fue significativa para clasificar sujetos que luego desarrollaron MAM grave. Por el contrario, la asociación de desaturación durante el ejercicio a 2 700m más la saturación inapropiada en reposo a 4 300m fue significativa para clasificar a los sujetos que desarrollaron MAM grave con un valor predictivo positivo de 80% y un valor predictivo negativo del 97%. Nuestros resultados son relevantes para el montañismo y sugieren la adición de un simple test de ejercicio en la predicción del MAM grave. PMID:20228017
San Mauro Martín, Ismael; Cevallos, Vanesa; Pina Ordúñez, Diana; Garicano Vilar, Elena
2016-07-19
Introducción: existen alteraciones frecuentes en la alimentación de la población infantil femenina, y especialmente en atletas de deportes estéticos por la presión ejercida para mantener un cuerpo.Objetivos: evaluar los aspectos nutricionales, antropométricos y la percepción del peso de niñas que realizan gimnasia rítmica frente a un grupo control.Métodos: estudio descriptivo comparativo. Se compararon 25 niñas gimnastas con 25 niñas no gimnastas (control). Se realizó una valoración antropométrica, mediante protocolo ISAK, y nutricional, mediante un registro dietético de siete días; así como una valoración cuantitativa y cualitativa de la ingesta alimentaria, mediante el software DIAL. Se rellenó un cuestionario de hábitos y sobre la percepción de su peso corporal.Resultados: los datos antropométricos no presentaron diferencias significativas entre ambos grupos, excepto en los pliegues cutáneos y el porcentaje de grasa, el cual era estadísticamente inferior en gimnastas. La ingesta energética (1.413 ± 283 Kcal/día) de las gimnastas era inferior a la recomendada por la Food and Nutrition Board de acuerdo a su edad. La distribución de los macronutrientes cumplía con los valores normales establecidos (10-30% proteínas, 45-65% hidratos, 20-35% grasas). El 32% de las gimnastas y el 36,4% de las niñas control consideraron que les gustaría pesar menos.Conclusión: teniendo en cuenta la intensa actividad de las gimnastas, sus requerimientos energéticos deberían ajustarse a ello, ya que esto contribuirá a su desarrollo y crecimiento y a una mejor ejecución del ejercicio. En la muestra estudiada, el consumo de alimentos de las gimnastas se aleja de una alimentación equilibrada. No se observaron comportamientos diferentes en la percepción del peso entre ambos grupos.
Moléculas orgánicas no-rígidas
NASA Astrophysics Data System (ADS)
Senent Díez, M. L.
Se destaca la importancia del estudio espectroscópico ab initio de una serie de moléculas no-rígidas detectadas en el medio interestelar (acetona, dimetil-eter, etanol, metanol, metilamina, ldots), así como los últimos avances del desarrollo de la metodología para el tratamiento teórico de estas especies. Se describe, a modo de ejemplo, el análisis del espectro roto-torsional de la molécula de glicoaldehido que ha sido recientemente detectada en el centro Galáctico Sagitario B2 (N) [1]. Esta especie presenta dos movimientos de gran amplitud que interaccionan, descansan en el Infrarrojo Lejano y le confiere propiedades no-rígidas. La molécula puede existir en posiciones cis y trans y presenta cinco confórmeros estables, tres de simetría Cs (I, II y IV) y un doble mínimo trans de simetría C1 (III) . La conformación favorita, I, presenta simetría Cs y se estabiliza por la formación de un puente de hidrógeno entre los grupos OH y C=O. Los mínimos secundarios II, III, y IV se han determinado a 1278.2 cm-1 (trans, Cs), 1298.8 cm-1 (trans, C1) y 1865.2 cm-1 (cis, Cs) con cálculos MP4/cc-pVQZ que incluyen sustituciones triples. Para determinar que vibraciones interaccionan con las torsiones, se ha realizado un análisis armónico en los mínimos. Las frecuencias fundamentales armónicas correspondientes al mínimo I se han calculado en 213.4 cm-1 (torsión C-C) y 425.7 cm-1 (torsión OH). Es de esperar que tan sólo dos vibraciones, la flexión del grupo C-C-O y el aleteo del hidrógeno del grupo aldehídico puedan desplazar el espectro torsional de la molécula aislada. Para determinar el espectro torsional, se ha determinado la superficie de potencial en dos dimensiones mediante el cálculo ab initio de las geometrías y energías de 74 conformaciones seleccionadas. Estas últimas se han ajustado a un doble serie de Fourier. A partir de la PES y de los parámetros cinéticos del Hamiltoniano vibracional se han obtenido frecuencias e intensidades. Las frecuencias fundamentales se han calculado en 208.0 cm-1 (torsión C-C) y 349.9 cm-1 (torsión OH). Se discute el método de cálculo que se ha empleado para la clasificación de los niveles. Los niveles rotacionales se han determinado empleando el método desarrollado para el estudio del ácido acético [2]. Se emplean la base de funciones rotacionales de [3]. A partir de los niveles se han determinado las constantes rotacionales y las constantes de distorsión centrífuga que se comparan con las experimentales de Herbst et al [3].
Li, Chuan; Li, Lin; Zhang, Jie; Alexov, Emil
2012-01-01
The Gauss-Seidel method is a standard iterative numerical method widely used to solve a system of equations and, in general, is more efficient comparing to other iterative methods, such as the Jacobi method. However, standard implementation of the Gauss-Seidel method restricts its utilization in parallel computing due to its requirement of using updated neighboring values (i.e., in current iteration) as soon as they are available. Here we report an efficient and exact (not requiring assumptions) method to parallelize iterations and to reduce the computational time as a linear/nearly linear function of the number of CPUs. In contrast to other existing solutions, our method does not require any assumptions and is equally applicable for solving linear and nonlinear equations. This approach is implemented in the DelPhi program, which is a finite difference Poisson-Boltzmann equation solver to model electrostatics in molecular biology. This development makes the iterative procedure on obtaining the electrostatic potential distribution in the parallelized DelPhi several folds faster than that in the serial code. Further we demonstrate the advantages of the new parallelized DelPhi by computing the electrostatic potential and the corresponding energies of large supramolecular structures. PMID:22674480
Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome
Ausavarat, Surasawadee; Leoyklang, Petcharat; Vejchapipat, Paisarn; Chongsrisawat, Voranush; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk
2009-01-01
Peutz-Jeghers syndrome (PJS), a rare autosomal dominant inherited disorder, is characterized by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. Patients with this syndrome have a predisposition to a variety of cancers in multiple organs. Mutations in the serine/threonine kinase 11 (STK11) gene have been identified as a major cause of PJS. Here we present the clinical and molecular findings of two unrelated Thai individuals with PJS. Mutation analysis by Polymerase Chain Reaction-sequencing of the entire coding region of STK11 revealed two potentially pathogenic mutations. One harbored a single nucleotide deletion (c.182delG) in exon 1 resulting in a frameshift leading to premature termination at codon 63 (p.Gly61AlafsX63). The other carried an in-frame 9-base-pair (bp) deletion in exon 7, c.907_915del9 (p.Ile303_Gln305del). Both deletions were de novo and have never been previously described. This study has expanded the genotypic spectrum of the STK11 gene. PMID:19908348
Lenarduzzi, S; Morgutti, M; Crovella, S; Coiana, A; Rosatelli, M C
2014-11-14
Cystic fibrosis (CF) is a common recessive genetic disease caused by mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. More than 1800 different mutations have been described to date. Here, we report 3 novel mutations in CFTR in 3 Italian CF patients. To detect and identify 36 frequent mutations in Caucasians, we used the INNO-LiPA CFTR19 and INNO-LiPA CFTR17+Tn Update kits (Innogenetics; Ghent, Belgium). Our first analysis did not reveal both of the responsible mutations; thus, direct sequencing of the CFTR gene coding region was performed. The 3 patients were compound heterozygous. In one allele, the F508del (c.1521_1523delCTT, p.PHE508del) mutation in exon 11 was observed in each case. For the second allele, in patient No.1, direct sequencing revealed an 11-base pair deletion (GAGGCGATACT) in exon 14 (c.2236_2246del; pGlu746Alafs*29). In patient No. 2, direct sequencing revealed a nonsense mutation at nucleotide 3892 (c.3892G>T) in exon 24. In patient No. 3, direct sequencing revealed a deletion of cytosine in exon 27 (c.4296delC; p.Asn1432Lysfs*16). These 3 novel mutations indicate the production of a truncated protein, which consequently results in a non-functional polypeptide.
Oliveira, Renata Marques de; Duarte, Alexandre Freitas; Alves, Domingos; Furegato, Antonia Regina Ferreira
2016-08-29
to develop a mobile app for research on the use of tobacco among psychiatric patients and the general population. applied research with the technological development of an app for data collection on an Android tablet. For its development, we considered three criteria: data security, benefits for participants and optimization of the time of researchers. We performed tests with twenty fictitious participants and a final test with six pilots. the app collects data, stores them in the database of the tablet and export then to an Excel spreadsheet. calculator, stopwatch, offline operation, branching logic, field validation and automatic tabulation. the app prevents human error, increases the quality of the data by validating them during the interview, allows the performing of automatic tabulation and makes the interviews less tiring. Its success may encourage the use of this and other computational resources by nurses as a research tool. desenvolver aplicativo mobile para pesquisa sobre o uso de tabaco entre pacientes psiquiátricos e a população geral. pesquisa aplicada com o desenvolvimento tecnológico de um aplicativo para coleta de dados em tablet Android. Para seu desenvolvimento, consideraram-se três critérios: segurança dos dados, benefícios para os participantes e otimização do tempo dos pesquisadores. Testes com 20 participantes fictícios e teste final com seis pilotos. o aplicativo coleta os dados, armazena-os no banco de dados do tablet e os exporta para planilha Excel. Recursos: calculadora; cronômetro; funcionamento off-line, lógica de ramificação, validação de campos e tabulação automática. o aplicativo previne erros humanos e aumenta a qualidade dos dados ao validá-los durante a entrevista, permite realizar tabulação automática e torna as entrevistas menos cansativas. Seu sucesso poderá incentivar o uso desse e outros recursos computacionais pelos enfermeiros, como ferramenta de pesquisa. desarrollar aplicativo móvil para hacer investigación sobre el uso de tabaco entre pacientes psiquiátricos y la población en general. investigación aplicada con el desarrollo tecnológico de un aplicativo para recolección de datos en tablet Android. Para su desarrollo, se consideraron tres criterios: seguridad de los datos, beneficios para los participantes y optimización del tiempo de los investigadores. Se realizaron pruebas con 20 participantes ficticios y un test piloto final. los datos del aplicativo almacenados en el banco de datos del tablet son exportados para planilla Excel. Recursos: calculadora, cronómetro, funcionamiento off-line, lógica de ramificación, validación de campos y tabulación automática. el aplicativo evita errores humanos y aumenta la calidad de los datos al validarlos durante la entrevista, también permite realizar una tabulación automática y torna las entrevistas menos agotadoras. Su éxito incentivará su uso y el de otros recursos computacionales por parte de los enfermeros, como herramienta de investigación.
ERIC Educational Resources Information Center
Vigliocco, Gabriella; Kousta, Stavroula; Vinson, David; Andrews, Mark; Del Campo, Elena
2013-01-01
In Kousta, Vigliocco, Vinson, Andrews, and Del Campo (2011), we presented an embodied theory of semantic representation, which crucially included abstract concepts as internally embodied via affective states. Paivio (2013) took issue with our treatment of dual coding theory, our reliance on data from lexical decision, and our theoretical proposal.…
Andersen, Gitte; Wegner, Lise; Rose, Christian Schack; Xie, Jianxin; Zhu, Hao; Larade, Kevin; Johansen, Anders; Ek, Jakob; Lauenborg, Jeannet; Drivsholm, Thomas; Borch-Johnsen, Knut; Damm, Peter; Hansen, Torben; Bunn, H. Franklin; Pedersen, Oluf
2011-01-01
Recent data show that homozygous Ncb5or−/− knockout mice present with an early-onset nonautoimmune diabetes phenotype. Furthermore, genome-wide scans have reported linkage to the chromosome 6q14.2 region close to the human NCB5OR. We therefore considered NCB5OR to be a biological and positional candidate gene and examined the coding region of NCB5OR in 120 type 2 diabetic patients and 63 patients with maturity-onset diabetes of the young using denaturing high-performance liquid chromatography. We identified a total of 22 novel nucleotide variants. Three variants [IVS5+7del(CT), Gln187Arg, and His223Arg] were genotyped in a case-control design comprising 1,246 subjects (717 type 2 diabetic patients and 529 subjects with normal glucose tolerance). In addition, four rare variants were investigated for cosegregation with diabetes in multiplex type 2 diabetic families. The IVS5+7del (CT) variant was associated with common late-onset type 2 diabetes; however, we failed to relate this variant to any diabetes-related quantitative traits among the 529 control subjects. Thus, variation in the coding region of NCB5OR is not a major contributor in the pathogenesis of nonautoimmune diabetes. PMID:15504981
Observation and analysis of pellet material del B drift on MAST
DOE Office of Scientific and Technical Information (OSTI.GOV)
Garzotti, L.; Baylor, Larry R; Kochi, F.
2010-01-01
Pellet material deposited in a tokamak plasma experiences a drift towards the low field side of the torus induced by the magnetic field gradient. Plasma fuelling in ITER relies on the beneficial effect of this drift to increase the pellet deposition depth and fuelling efficiency. It is therefore important to analyse this phenomenon in present machines to improve the understanding of the del B induced drift and the accuracy of the predictions for ITER. This paper presents a detailed analysis of pellet material drift in MAST pellet injection experiments based on the unique diagnostic capabilities available on this machine andmore » compares the observations with predictions of state-of-the-art ablation and deposition codes.« less
Germán Díaz, Marta; Moreno Villares, José Manuel; Gomis Muñoz, Pilar
2016-07-19
Introducción: la nutrición parenteral domiciliaria se ha convertido en un punto clave en el tratamiento de pacientes con fracaso intestinal crónico. A pesar de los importantes avances que se han producido en las últimas décadas, tanto en los accesos vasculares, como en las soluciones empleadas, las infecciones asociadas a catéter venoso central siguen constituyendo una de las complicaciones más importantes. Dentro de las estrategias para la prevención o el tratamiento de estas infecciones se encuentra el empleo de sellados con antisépticos, como el etanol o la taurolidina, o de antibióticos.Objetivo: el objetivo de este artículo es revisar la evidencia disponible sobre el empleo de sellados con antisépticos o antibióticos en el manejo de pacientes pediátricos con nutrición parenteral domiciliaria.Material y métodos: el uso de sellados con etanol o taurolidina para prevenir el desarrollo de infecciones asociadas a catéter central estaría indicado en pacientes con nutrición parenteral domiciliaria que hayan tenido más de una infección en el año anterior o que se consideren pacientes de riesgo. Los sellados con antibióticos están indicados en el tratamiento de bacteriemias asociadas a catéter central producidas por S. coagulasa-negativo o gramnegativos, asociados a un tratamiento sistémico, siempre que sea posible, con el fin de salvar el catéter. Se debería llevar a cabo la retirada del mismo cuando existan signos de infección del punto de entrada o del trayecto subcutáneo, o cuando el germen responsable de la infección sea S. aureus o Cándida.Conclusión: a pesar de que la fuerza de la evidencia sobre la eficacia del sellado en la prevención o el tratamiento de infecciones asociadas al catéter es limitada, tanto en el niño como en el adulto, cada vez existen más datos a usar esta alternativa en pacientes con nutrición parenteral domiciliaria en los que la atención y salvaguarda de los catéteres es primordial.
Detección automática de NEOs en imágenes CCD utilizando la transformada de Hough
NASA Astrophysics Data System (ADS)
Ruétalo, M.; Tancredi, G.
El interés y la dedicación por los objetos que se acercan a la órbita de la Tierra (NEOs) ha aumentado considerablemente en los últimos años, tanto que se han iniciado varias campañas de búsqueda sistemática para aumentar la población identificada de éstos. El uso de placas fotográficas e identificación visual está siendo sustituído, progresivamente, por el uso de cámaras CCD y paquetes de detección automática de los objetos en las imágenes digitales. Una parte muy importante para la implementación exitosa de un programa automatizado de detección de este tipo es el desarrollo de algoritmos capaces de identificar objetos de baja relación señal-ruido y con requerimientos computacionales no elevados. En el presente trabajo proponemos la utilización de la transformada de Hough (utilizada en algunas áreas de visión artificial) para detectar automáticamente trazas, aproximadamente rectilíneas y de baja relación señal-ruido, en imágenes CCD. Desarrollamos una primera implementación de un algoritmo basado en ésta y lo probamos con una serie de imágenes reales conteniendo trazas con picos de señales de entre ~1 σ y ~3 σ por encima del nivel del ruido de fondo. El algoritmo detecta, sin inconvenientes, la mayoría de los casos y en tiempos razonablemente adecuados.
Elastoplasticidad anisotropa de metales en grandes deformaciones
NASA Astrophysics Data System (ADS)
Caminero Torija, Miguel Angel
El objetivo de este trabajo es el desarrollo de modelos y algoritmos numericos que simulen el comportamiento del material bajo estas condiciones en el contexto de programas de elementos finitos, dando como resultado predicciones mas precisas de los procesos de conformado y deformacion plastica en general. Para lograr este objetivo se han desarrollado diversas tareas destinadas a mejorar las predicciones en tres aspectos fundamentales. El primer aspecto consiste en la mejora de la descripcion del endurecimiento cinematico anisotropo en pequenas deformaciones, lo cual se ha realizado a traves de modelos y algoritmos implicitos de superficies multiples. Ha sido estudiada la consistencia de este tipo de modelos tanto si estan basados en una regla implicita similar a la de Mroz o en la regla de Prager. Ademas se han simulado los ensayos de Lamba y Sidebottom, obteniendo, en contra de la creencia general, muy buenas predicciones con la regla de Prager. Dichos modelos podrian ser extendidos de forma relativamente facil para considerar grandes deformaciones a traves de procedimientos en deformaciones logaritmicas, similares a los desarrollados en esta tesis y detallados a continuacion. El segundo aspecto consiste en la descripcion de la anisotropia elastoplastica inicial. Esto se ha conseguido mediante el desarrollo de modelos y algoritmos para plasticidad anisotropa en grandes deformaciones, bien ignorando la posible anisotropia elastica, bien considerandola simultaneamente con la anisotropia plastica. Para ello ha sido necesario desarrollar primero un nuevo algoritmo de elastoplasticidad anisotropa en pequenas deformaciones consistentemente linealizado y sin despreciar ningun termino, de tal forma que se conserve la convergencia cuadratica de los metodos de Newton. Este algoritmo en pequenas deformaciones ha servido para realizar la correccion plastica de dos algoritmos en grandes deformaciones. El primero de estos algoritmos es una variacion del clasico algoritmo de Eterovic y Bathe para incluir la posibilidad de plasticidad anisotropa con endurecimiento mixto. Este primer algoritmo esta restringido a casos de isotropia elastica. La isotropia elastica es una hipotesis bastante habitual en plasticidad anisotropa y tiene la ventaja de que permite el uso de formulaciones mixtas u/p. El segundo algoritmo, mas complejo y general, incluye la posibilidad de elasticidad anisotropa, plasticidad anisotropa y endurecimiento mixto. Este algoritmo supone una contribucion importante ya que esta basado en hipotesis comunmente aceptadas y utilizadas en elastoplasticidad isotropa: descomposicion multiplicativa del gradiente de deformaciones en parte elastica y parte plastica, descripcion hiperelastica sencilla en funcion de deformaciones logaritmicas e integracion exponencial que conserva el volumen. Ademas, la estructura final del algoritmo es modular y relativamente sencilla, consistiendo en un pre- y un postprocesador geometrico y una correccion plastica realizada en pequenas deformaciones. El algoritmo esta consistentemente linealizado para conservar la convergencia cuadratica asintotica de los metodos de Newton y la forma final que toma dicha linealizacion es similar al caso de isotropia elastoplastica implementado; consiste en el modulo tangente algoritmico de pequenas deformaciones sobre el que se aplica una transformacion para convertirlo en el de grandes deformaciones. Todos estos modelos han sido implementados en un codigo propio de elementos finitos denominado DULCINEA, el cual tiene formulaciones lagrangianas totales y actualizadas para grandes deformaciones. Una de las tareas necesarias para poder realizar las simulaciones, ha sido el estudio e implementacion de diferentes elementos que no sufran el bloqueo volumetrico severo que se observa en formulaciones estandar basadas en desplazamientos. Este bloqueo se debe a la condicion de quasi-incompresibilidad que imponen los modelos de plasticidad desviadores y consiste en una respuesta exageradamente rigida de la solucion obtenida por el metodo de los elementos finitos estandar. Entre los elementos implementados cabe destacar el basado en la formulacion mixta u/p, que contiene una interpolacion adicional de grados de libertad de presion. Estos grados de libertad adicionales habitualmente son internos al elemento en mecanica de solidos. En este trabajo se ha desarrollado e implementado en DULCINEA una familia de elementos tridimensionales mixtos en grandes deformaciones que incluye el caso particular BMIX 27/27/4, basado en la formulacion u/p, constituido por 27 nudos, con 27 puntos de integracion estandar y 4 grados de libertad de presiones, y que pasa la condicion Inf-Sup o de Babuska-Brezzi. Sin embargo, se ha observado que la formulacion u/p presenta ciertas limitaciones bajo las hipotesis conjuntas de anisotropia elastica y anisotropia plastica. (Abstract shortened by UMI.)
NASA Astrophysics Data System (ADS)
Pintado, O. I.; Santillán, L.; Marquetti, M. E.
All images obtained with a telescope are distorted by the instrument. This distorsion is known as instrumental profile or instrumental broadening. The deformations in the spectra could introduce large errors in the determination of different parameters, especially in those dependent on the spectral lines shapes, such as chemical abundances, winds, microturbulence, etc. To correct this distortion, in some cases, the spectral lines are convolved with a Gaussian function and in others the lines are widened with a fixed value. Some codes used to calculate synthetic spectra, as SYNTHE, include this corrections. We present results obtained for the spectrograph REOSC and EBASIM of CASLEO.
Yan, Xukun; Zhang, Tianyu; Wang, Zhengmin; Jiang, Yi; Chen, Yan; Wang, Hongyan; Ma, Duan; Wang, Lei; Li, Huawei
2011-12-20
Waardenburg syndrome type II (WS2) is associated with syndromic deafness. A subset of WS2, WS2A, accounting for approximately 15% of patients, is attributed to mutations in the microphthalmia-associated transcription factor (MITF) gene. We examined the genetic basis of WS2 in a large Chinese family. All 9 exons of the MITF gene, the single coding exon (exon 2) of the most common hereditary deafness gene GJB2 and the mitochondrial DNA (mtDNA) 12S rRNA were sequenced. A novel heterozygous mutation c.[742_743delAAinsT;746_747delCA] in exon 8 of the MITF gene co-segregates with WS2 in the family. The MITF mutation results in a premature termination codon and a truncated MITF protein with only 247 of the 419 wild type amino acids. The deaf proband had this MITF gene heterozygous mutation as well as a c.[109G>A]+[235delC] compound heterozygous pathogenic mutation in the GJB2 gene. No pathogenic mutation was found in mtDNA 12S rRNA in this family. Thus, a novel compound heterozygous mutation, c.[742_743delAAinsT;746_747delCA] in MITF exon 8 was the key genetic reason for WS2 in this family, and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband. Copyright © 2011. Published by Elsevier Ltd.
Serious game development as a strategy for health promotion and tackling childhood obesity.
Dias, Jéssica David; Mekaro, Marcelo Shinyu; Cheng Lu, Jennifer Kaon; Otsuka, Joice Lee; Fonseca, Luciana Mara Monti; Zem-Mascarenhas, Silvia Helena
2016-08-15
to develop and assess a serious game on healthy eating and physical activity to promote health and tackle childhood obesity. a descriptive, applied and methodological study.For the development of the game, the following steps were taken: conceptualization, pre-production with the development of the game documentation, prototyping, production and assessment of thecomputer and health experts. a prototype has been developed up to beta version. The game was positively assessed both in terms of gameplay and mechanics, and in relation to the content presented, standing out as a powerful strategy for health promotion. The information from the assessment phase contributed to the settings in the software in order to make it available in the future for the target population of this research. The greatest advantage of the proposed game is the fact that it is an open educational resource. the expert assessments showed that the game has great educational potential and it is considered suitable for future application to the target audience.The serious game can become a technological teaching resource available for use in schools and health facilities, and can also be reused for the production of other educational games by accessing its source code. desenvolver e avaliar um serious game (Jogo sério) sobre alimentação saudável e exercício físico para promoção da saúde e auxílio ao enfrentamento da obesidade infantil. estudo descritivo, aplicado e metodológico. Para o desenvolvimento do jogo, foram percorridas as seguintes etapas: conceituação, pré-produção com desenvolvimento da documentação do jogo, prototipagem, produção e avaliação de especialistas de computação e saúde. desenvolveu-se um protótipo até a versão beta. O jogo foi avaliado positivamente tanto em relação à jogabilidade e mecânica, quanto em relação ao conteúdo apresentado, destacando-se como uma estratégia potente para a promoção de saúde. As informações oriundas da fase de avaliação serviram de subsídio para adequações no software com a finalidade de disponibilizá-lo futuramente à população alvo da pesquisa. O grande diferencial do jogo proposto é o fato do mesmo ser um recurso educacional aberto. as avaliações com especialistas demonstraram que o jogo tem grande potencial educacional e considerado adequado para a aplicação futura com o público-alvo. O serious game pode ser um recurso didático tecnológico acessível para uso em escolas e unidades de saúde, além de poder ser reutilizado para a produção de outros jogos educacionais através do acesso de seu código fonte. desarrollar y evaluar un serious game (Juego serio) sobre alimentación saludable y ejercicio físico para la promoción de la salud y ayudar en el enfrentamiento de la obesidad infantil. estudio descriptivo, aplicado y metodológico. Para el desarrollo del juego, se iniciaron los siguientes pasos: conceptualización, pre-producción con el desarrollo de la documentación del juego, creación de prototipos, producción y evaluación por expertos informáticos y en salud. un prototipo se ha desarrollado hasta la versión beta. El juego se evaluó positivamente tanto en términos de jugabilidad y mecánica como en relación con el contenido presentado, destacándose como una poderosa estrategia para la promoción de la salud. La información de la fase de evaluación contribuyó a los ajustes en el software con el fin de que esté disponible en el futuro para la población objetivo de esa investigación. La gran vantaja del juego propuesto es el hecho de que es un recurso educativo abierto. las evaluaciones de los expertos mostraron que el juego tiene un gran potencial educativo y es considerado adecuado para la aplicación futura para el público objetivo. El serious game puede convertirse en un recurso para la enseñanza tecnológica disponible para uso en las escuelas y en los centros de salud, y también puede ser reutilizado para la producción de otros juegos educativos mediante el acceso a su código fuente.
Grande Covián, F; Rof Carballo, J; Jiménez García, F; Morata Cernuda, A
2014-09-01
El estudio clínico del estado nutritivo de un grupo de niños en edad escolar, habitantes de un suburbio madrileño revela la existencia, relativamente rara, de signos carenciales específicos, que contrasta vivamente con el considerable retraso que se observa en su desarrollo somático. Los hechos parecen demostrar que el problema nutritivo de estos niños es sobre todo un problema cuantitativo. El retraso de la evolución está en relación con la insuficiencia global de la dieta y con el déficit de calcio que es probablemente el elemento individual con mayor grado de carencia en las dietas. La anemia que presenta el 98% de los niños no parece deberse únicamente a una deficiencia de hierro porque la dieta parece tener una cantidad adecuada; probablemente esté más en relación con el exiguo contenido de proteínas animales de la ración.
Validity of a parent vocabulary checklist for young Spanish speaking children of Mexican immigrants.
Guiberson, Mark
2008-01-01
The primary objective of the current investigation was to examine the concurrent and predictive validity of a parent vocabulary checklist with young Spanish speaking children of Mexican immigrants. This study implemented a longitudinal approach. Nineteen families participated when children were 15-16 months of age, and then again at 30-32 months of age. The Spanish version of the MacArthur Communicative Development Inventory (Inventarios del Desarrollo de Habilidades Communicativas, INV) and spontaneous language samples collected during naturalistic play were used to examine the relationship between observed and reported vocabulary. Vocabulary reported through the INV-II and vocabulary observed at 30-32 months were significantly correlated, suggesting that the INV-II captures a valid representation of vocabulary at this age. Comparatively, vocabulary reported on the INV-I, was not correlated with observed vocabulary at 15-16 months of age or reported or observed vocabulary at 30-32 months of age. These results suggest that the INV-I, when used with 14-16-month-olds, demonstrates limited concurrent and predictive validity. Implications for the clinical use of the INV-I and INV-II are presented.
Fernald, Lia C H; Hidrobo, Melissa
2011-05-01
We examined the effects of Ecuador's Bono de Desarrollo Humano (BDH)--an unconditional cash transfer program that was rolled-out using a randomized design--on health and development outcomes in very young children. Communities that were randomly assigned to the treatment group began receiving the BDH in 2004 and those randomly assigned to the comparison group began receiving benefits two years later. Families enrolled in the BDH received a monthly cash stipend ($15USD) representing an approximate 6-10% increase in household income. Participants analyzed in this study are children aged 12-35 months from treatment (n = 797) and comparison (n = 399) communities in rural and urban Ecuador. Main outcomes measured were language skills (the Fundación MacArthur Inventorio del Desarollo de Habilidades Comunicativas-Breve), height-for-age z-score, and hemoglobin concentration. Results indicate that in rural areas, being randomized to receive the BDH in very early childhood led to significantly better performance on the number of words a child was saying, and on the probability that the child was combining two or more words. There were no significant effects on language development for children in urban areas and there were no effects on height-for-age z-score or hemoglobin concentration in rural or urban areas. A limited number of potential pathways with respect to cognitive/language stimulation, health behaviors, and parenting quality were also explored. Findings indicate that compared to children in comparison areas, rural children in treatment areas were more likely to have received vitamin A or iron supplementation and have been bought a toy in the past six months. This study provides evidence for significant benefits of an unconditional cash transfer program for language development in very young children in rural areas. Copyright © 2011 Elsevier Ltd. All rights reserved.
[Transgressive Conducts in the Academic Environment].
Campo-Cabal, Gerardo
2012-01-01
This article presents a historical review, from an ethic standpoint, of the national legislation that rules the practice of Medicine in Colombia; ity also refers to the deontological code and the Colombian psychiatric code as well as to the commitment of the Health Faculty of the Universidad del Valle regarding ethical conducts. Ethics is introduced as an original innate faculty, resulting from cognitive development and learning while being also a manifestation of underlying biological processes or a result of the interaction of different models. The teaching-learning process is a situation in which teachers and students get together in order to acquire competences that are to be ethically expressed. Empirical studies have shown transgressive forms of behavior in teachers, students and academic administrators throughout the world; in addition, the mass media expose transgressions committed by other social groups such as politicians, financiers, clergymen, researchers, etc. Firstly proposed as a problem-solving strategy is the acceptance of the very existence of transgressions, followed by the conformation of a committee aimed at principle-identification for, subsequently, undertaking eductional and following-up actions, while administering sanctions when necessary. The proposal for adopting problem-solving strategies for the Faculty of Health of the Universidad del Valle is also presented. Copyright © 2012 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.
NASA Astrophysics Data System (ADS)
Ferreres Sabater, Agustin
Cualquier sistema electronico que incluya un procesado o tratamiento de la senal, y ademas, algun tipo de actuador mecanico generalmente necesita, como minimo, dos tensiones diferentes de alimentacion. Excluyendo los sistemas de alimentacion distribuida, la solucion tecnica mas utilizada para proporcionar dos o mas tensiones consiste en las fuentes de alimentacion multisalida. En una fuente de alimentacion multisalida los diferentes circuitos que conforman cada salida comparten un mismo transformador de potencia optimizando coste, masa, y volumen. Las ventajas obtenidas con este procedimiento tienen en su contra el efecto que sobre cada salida individual provocan las demas en su conjunto debido, principalmente, a los efectos de los elementos parasitos de los componentes. Un cambio de carga en una de las salidas produce un transitorio que es visto por todas las demas como un efecto de impedancia cruzada, y al final del transitorio, la tension de cada salida es diferente respecto a la que tenian antes del transitorio. Este ultimo resultado se conoce como regulacion cruzada. La disminucion de los efectos de la regulacion cruzada ha sido objeto de estudio durante los ultimos anos. El objetivo ha sido el desarrollo de distintas estrategias que permiten, desde disminuir los efectos de la regulacion cruzada hasta los niveles deseables, a eliminarla completamente. El resultado final suele suponer una penalizacion sobre el diseno del sistema directamente proporcional al grado de regulacion a conseguir en las distintas salidas. Entre las soluciones propuestas para eliminar la regulacion cruzada las tecnicas de post-regulacion se han consolidado como la opcion mas aceptada ya que, pueden aplicarse a cualquier convertidor y no suponen ninguna complejidad adicional a la hora de plantear el diseno. En esta Tesis Doctoral se abordara el estudio de la tecnica conocida como postregulacion mediante transformador controlado, que si bien se ha empleado en convertidores resonantes, su modelizacion, y aplicacion en convertidores PWM, esta aun por estudiar y valorar. El primer Capitulo consiste en una breve introduccion al problema de la regulacion cruzada y la impedancia cruzada para posteriormente describir las tecnicas de post-regulacion actualmente mas empleadas, con especial atencion al post-regulador con transformador controlado. El Capitulo segundo trata del estudio de las caracteristicas estaticas del postregulador con transformador controlado. Partiendo de los estudios disponibles sobre el postregulador se plantean mejoras en su modo de actuacion y se discuten tres alternativas diferentes para controlar el transformador. Las dos primeras consisten en emplear un convertidor auxiliar Boost en sus dos modos de funcionamiento, continuo y discontinuo. La tercera consiste en controlar el transformador con una tension PWM directamente, sin filtrado. Finalmente se comprueba experimentalmente, para el estado estacionario, el funcionamiento del post-regulador para cada uno de los tres metodos de control. El Capitulo tercero trata de la dinamica de la salida controlada con el post-regulador cuando este emplea un convertidor auxiliar tipo Boost. Mediante la tecnica de promediado de variables de estado se propone el modelo de pequena senal, tanto para el modo continuo como para el modo discontinuo de funcionamiento del convertidor auxiliar. Los resultados mas significativos de esta seccion son las expresiones analiticas de las impedancias cruzadas y de la impedancia de la salida post-regulada. Como complemento al modelo de pequena senal se plantea un modelo de gran senal implementado sobre el simulador Pspice. Con este nuevo modelo se reproducen los resultados obtenidos con el modelo de pequena senal y ademas es posible simular los transitorios en las tensiones de salida ante cambios de carga. La modelizacion del convertidor cuando el transformador se controla con una tension PWM sin filtrar es el objetivo del Capitulo 4. En las secciones siguientes del Capitulo se plantea el correspondiente modelo de gran senal aplicado a un nuevo prototipo experimental, de mayor tension de entrada y mayores corrientes de salida. El final del Capitulo contrasta los resultados experimentales con los teoricos confirmando la utilidad del modelo de gran senal como una herramienta basica de diseno. Finalmente, en el Capitulo 5, se presentan las conclusiones y la valoracion de los diferentes estudios plateados a lo largo de la Tesis Doctoral.
PREFACE: FLUIDOS 2010: XI Meeting on Recent Advances in the Physics of Fluids and their Applications
NASA Astrophysics Data System (ADS)
Bove, Italo; Cabeza, Cecilia; Martí, Arturo C.; Sarasúa, Gustavo
2011-04-01
The papers published in this volume of the Journal of Physics: Conference Series were selected from the manuscripts submitted to the XI Meeting on Recent Advances in the Physics of Fluids and their Applications (FLUIDOS2010), which was held in Colonia del Sacramento, Uruguay, 3-5 November 2010. FLUIDOS takes place every two years, usually in November, with the aim of gathering together researchers from all areas of the Physics of Fluids, to update themselves on the latest technical developments and applications, share knowledge and stimulate new ideas. This 11th meeting continues the successful experience of the previous ones which were held in different Argentinian cities. For the first time, the meeting was celebrated in Uruguay, more specifically, in the peaceful town of Colonia del Sacramento, designated a World Heritage Site by UNESCO. The conference presented an outstanding program of papers covering the most recent advances in Physics of Fluids in the following areas: General Fluid Dynamics General and non-Newtonian Flows Magnetohydrodynamics Electrohydrodynamics and Plasmas Hydraulics, Thermohydraulics and Multiple Phase Flows A website with full details of the conference program, abstracts and other information can be found at http://fluidos2010.fisica.edu.uy. We would like to thank all the participants, especially those who contributed with talks, posters and manuscripts, for making FLUDOS2010 such a successful conference. Our thanks also go to our colleagues for their support and encouragement, particularly in the refereeing of papers. We would like to acknowledge additional financial support from Comisión Sectorial de Investigación Científica (Universidad de la República, Uruguay), Programa de Desarrollo de las Ciencias Básicas (Uruguay) and the Centro Latinoamericano de Física (CLAF). Our thanks are extended to the local government of Colonia del Sacramento. The next FLUIDOS conference will be held in November 2013, in Buenos Aires, Argentina. We anticipate enjoying another successful FLUIDOS meeting to be held in one of the main cultural centres of the continent. Italo Bove, Cecilia Cabeza, Arturo C Martí, and Gustavo SarasúaEditors
Yunta, Eduardo Rodríguez
2010-01-01
El presente artículo reflexiona desde los 4 principios de la bioética el uso comercial de organismos genéticamente modificados. Se cuestiona fundamentalmente la falta de transferencia de tecnología entre el mundo desarrollado y en desarrollo y el que el presente sistema de patentamiento de organismos vivos modificados fomenta intereses comerciales y no da debida importancia al desarrollo sostenible de la agricultura y ganadería en los países en desarrollo, donde más se necesita. Se reflexiona sobre la importancia que tiene evaluar los riesgos antes de introducirse en el mercado organismos genéticamente modificados y la necesidad de regulación en los países.
Cho, Kwang-Soo; Yun, Bong-Kyoung; Yoon, Young-Ho; Hong, Su-Young; Mekapogu, Manjulatha; Kim, Kyung-Hee; Yang, Tae-Jin
2015-01-01
We report the chloroplast (cp) genome sequence of tartary buckwheat (Fagopyrum tataricum) obtained by next-generation sequencing technology and compared this with the previously reported common buckwheat (F. esculentum ssp. ancestrale) cp genome. The cp genome of F. tataricum has a total sequence length of 159,272 bp, which is 327 bp shorter than the common buckwheat cp genome. The cp gene content, order, and orientation are similar to those of common buckwheat, but with some structural variation at tandem and palindromic repeat frequencies and junction areas. A total of seven InDels (around 100 bp) were found within the intergenic sequences and the ycf1 gene. Copy number variation of the 21-bp tandem repeat varied in F. tataricum (four repeats) and F. esculentum (one repeat), and the InDel of the ycf1 gene was 63 bp long. Nucleotide and amino acid have highly conserved coding sequence with about 98% homology and four genes—rpoC2, ycf3, accD, and clpP—have high synonymous (Ks) value. PCR based InDel markers were applied to diverse genetic resources of F. tataricum and F. esculentum, and the amplicon size was identical to that expected in silico. Therefore, these InDel markers are informative biomarkers to practically distinguish raw or processed buckwheat products derived from F. tataricum and F. esculentum. PMID:25966355
Zahorakova, Daniela; Rosipal, Robert; Hadac, Jan; Zumrova, Alena; Bzduch, Vladimir; Misovicova, Nadezda; Baxova, Alice; Zeman, Jiri; Martasek, Pavel
2007-01-01
Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder in females, is caused mainly by de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Here we report mutation analysis of the MECP2 gene in 87 patients with RTT from the Czech and Slovak Republics, and Ukraine. The patients, all girls, with classical RTT were investigated for mutations using bi-directional DNA sequencing and conformation sensitive gel electrophoresis analysis of the coding sequence and exon/intron boundaries of the MECP2 gene. Restriction fragment length polymorphism analysis was performed to confirm the mutations that cause the creation or abolition of the restriction site. Mutation-negative cases were subsequently examined by multiple ligation-dependent probe amplification (MLPA) to identify large deletions. Mutation screening revealed 31 different mutations in 68 patients and 12 non-pathogenic polymorphisms. Six mutations have not been previously published: two point mutations (323T>A, 904C>T), three deletions (189_190delGA, 816_832del17, 1069delAGC) and one deletion/inversion (1063_1236del174;1189_1231inv43). MLPA analysis revealed large deletions in two patients. The detection rate was 78.16%. Our results confirm the high frequency of MECP2 mutations in females with RTT and provide data concerning the mutation heterogeneity in the Slavic population.
Estereotipos Sexuales y su Relación con Conductas Sexuales Riesgosas1,2,3
Pérez-Jiménez, David; Orengo-Aguayo, Rosaura E.
2012-01-01
Resumen Los estereotipos sexuales son creencias generalmente aceptadas y poco cuestionadas que podrían contribuir a cómo los hombres y las mujeres debemos expresar nuestra sexualidad. Los objetivos de este estudio eran identificar cuántos hombres y mujeres heterosexuales en Puerto Rico endosaban ciertos estereotipos acerca de la sexualidad masculina y femenina y explorar la relación entre el endoso de estos estereotipos sexuales y las actitudes hacia el condón masculino y su uso en relaciones sexuales vaginales Llevamos a cabo un estudio descriptivo-correlacional mediante el cual le administramos dos escalas, una sobre sexualidad masculina y otra sobre sexualidad femenina a un grupo de 429 personas heterosexuales. Encontramos que los hombres endosaron estereotipos sexuales masculinos y femeninos más que las mujeres y que estos tienden a tener una visión más conservadora respecto a la sexualidad femenina que la que tienen sobre su propia sexualidad. Las mujeres, por otra parte, tienden a ver su propia sexualidad y la sexualidad masculina en términos menos estereotipados y más equitativos. También encontramos que a mayor endoso de creencias tradicionales sobre la sexualidad masculina y femenina, peor la actitud hacia el uso del condón masculino. Sin embargo, el endosar estereotipos sexuales masculinos y/o femeninos no se relacionó con el uso del condón. Estos hallazgos contradicen la literatura que sugiere que estos estereotipos sexuales y de género resultan en conductas sexuales de alto riesgo, lo cual tiene implicaciones importantes para el desarrollo e implementación de programas de prevención. PMID:24575164
Díaz, Toni; Ficapal-Cusí, Pilar; Aguilar-Martínez, Alicia
2016-07-19
Introducción: a pesar de la relevancia nutricional del desayuno para el desarrollo y su asociación a un mejor aprendizaje y rendimiento escolar, numerosos estudios ponen en evidencia que en muchos casos se omite o se hace mal.Objetivo: determinar la calidad del desayuno de estudiantes de entre 10 y 16 años con intención de determinar en qué momento sería conveniente realizar programas educativos sobre la importancia de esta comida y cómo mejorar su calidad.Método: estudio observacional, descriptivo y transversal a partir de un cuestionario con preguntas cerradas acerca de los hábitos de alimentación en el desayuno en estudiantes de educación primaria y secundaria.Resultados y conclusión: solo el 18,5% de los estudiantes realiza un desayuno de buena calidad y su mala calidad va aumentando progresivamente con los cursos y se asocia al hecho de desayunar solo. En ambos niveles educativos los alimentos más consumidos en casa pertenecen al grupo de los lácteos y los cereales, mientras que en el centro escolar, el bocadillo resulta el desayuno más habitual; no obstante se observan diferencias entre primaria y secundaria en cuanto al consumo de fruta y bebidas azucaradas, entre otros.Conclusión: sería interesante valorar la instauración de programas de desayuno escolar incluyendo en ellos no solo a estudiantes de primaria, sino también, y especialmente, a adolescentes pues son estos quienes omiten esta comida en mayor proporción. Las intervenciones deberían orientarse a corregir las desviaciones más habituales observadas en cada uno de los niveles educativos.
Martínez-Baena, Alejandro; Mayorga-Vega, Daniel; Viciana, Jesús
2016-07-19
Introducción: el aumento de la motivación hacia la Educación Física podría resultar un elemento esencial para propiciar un incremento en la condición física saludable de los escolares. La ausencia de estudios en población española hace necesario el desarrollo de esta línea de investigación.Objetivos: el objetivo del presente estudio fue examinar la asociación entre la motivación hacia la Educación Física y los niveles de condición física saludable en adolescentes de Educación Secundaria Obligatoria.Métodos: un total de 294 escolares (167 varones y 127 mujeres), de 13 a 16 años de edad cumplimentaron la versión española de la Escala de Locus Percibido de Causalidad en Educación Física y realizaron las pruebas de condición física saludable de la Batería ALPHA-Fitness de Alta Prioridad.Resultados: los resultados del estudio mostraron una asociación positiva entre tener una alta motivación hacia la Educación Física y presentar una mayor capacidad cardiorrespiratoria, tanto en niños como en niñas (p < 0,05). En cambio, no se encontró una asociación entre la motivación hacia la Educación Física y el sobrepeso o fuerza muscular.Conclusiones: existe una asociación positiva entre la motivación hacia la Educación Física y la capacidad cardiorrespiratoria. Por tanto, con el objetivo de que los alumnos presenten una capacidad cardiorespiratoria saludable, los profesores de Educación Física deberían promover la motivación hacia la Educación Física.
USDA-ARS?s Scientific Manuscript database
A trans-complemented CSF- JE chimeric viral replicon was constructed using an infectious cDNA clone of the CSF virus (CSFV) Alfort/187 strain. The E2 gene of CSFV Alfort/187 strain was deleted and the resultant plasmid pA187delE2 was inserted by a fragment containing the region coding for a truncate...
Batissoco, Ana Carla; Abreu-Silva, Ronaldo Serafim; Braga, Maria Cristina Célia; Lezirovitz, Karina; Della-Rosa, Valter; Alfredo, Tabith; Otto, Paulo Alberto; Mingroni-Netto, Regina Célia
2009-02-01
Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point mutations in the GJB2 gene (connexin 26) and two deletions in the GJB6 gene (connexin 30), del(GJB6-D13S1830) and del(GJB6-D13S1854), are reported to account for 50% of recessive deafness. Aiming at establishing the frequencies of GJB2 mutations and GJB6 deletions in the Brazilian population, we screened 300 unrelated individuals with hearing impairment, who were not affected by known deafness related syndromes. We firstly screened the most frequently reported mutations, c.35delG and c.167delT in the GJB2 gene, and del(GJB6-D13S1830) and del(GJB6-D13S1854) in the GJB6 gene, through specific techniques. The detected c.35delG and c.167delT mutations were validated by sequencing. Other mutations in the GJB2 gene were screened by single-strand conformation polymorphism and the coding region was sequenced when abnormal patterns were found. Pathogenic mutations in GJB2 and GJB6 genes were detected in 41 individuals (13.7%), and 80.5% (33/41) presented these mutations in homozygosis or compound heterozygosis, thus explaining their hearing defect. The c.35delG in the GJB2 gene was the most frequent mutation (37/300; 12.4%), detected in 23% familial and 6.2% the sporadic cases. The second most frequent mutation (1%; 3/300) was the del(GJB6-D13S1830), always found associated with the c.35delG mutation. Nineteen different sequence variations were found in the GJB2 gene. In addition to the c.35delG mutation, nine known pathogenic alterations were detected c.167delT, p.Trp24X, p.Val37Ile, c.176_191del16, c.235delC, p.Leu90Pro, p.Arg127His, c.509insA, and p.Arg184Pro. Five substitutions had been previously considered benign polymorphisms: c.-15C>T, p.Val27Ile, p.Met34Thr, p.Ala40Ala, and p.Gly160Ser. Two previously reported mutations of unknown pathogenicity were found (p.Lys168Arg, and c.684C>A), and two novel substitutions, p.Leu81Val (c.G241C) and p.Met195Val (c.A583G), both in heterozygosis without an accompanying mutation in the other allele. None of these latter four variants of undefined status was present in a sample of 100 hearing controls. The present study demonstrates that mutations in the GJB2 gene and del(GJB6 D13S1830) are important causes of hearing impairment in Brazil, thus justifying their screening in a routine basis. The diversity of variants in our sample reflects the ethnic heterogeneity of the Brazilian population.
Las ideologias, las ciencias naturales y sus implicaciones en la educacion cientifica
NASA Astrophysics Data System (ADS)
Lozada Roldan, Sandra
Este estudio ausculto las concepciones epistemologicas de los docentes de ciencia del nivel secundario con relacion a las ideologias y las ciencias naturales. Tambien examino las posiciones de los docentes ante asuntos publicos relacionados a la ciencia. Para propositos de este estudio se diseno y se valido el cuestionario con el cual se obtuvieron los resultados. La investigacion es de tipo cuantitativa y se utilizo como diseno la encuesta. El cuestionario se administro en varias actividades de desarrollo profesional para maestros de ciencia. Un total de 78 maestros del nivel secundario respondieron el cuestionario. Para analizar los datos obtenidos se utilizaron estadisticas descriptivas como la distribucion de frecuencia y el porciento. Ademas se establecieron codigos y categorias para describir las posiciones de los maestros ante asuntos publicos relacionados a la ciencia. Los analisis demostraron que entre los docentes participantes de este estudio prevalecen ciertas concepciones epistemologicas adecuadas acerca de las ciencias naturales, a la luz de la literatura consultada. Entre estas concepciones se destacan las siguientes: a) la filosofia materialista de las ciencias naturales, b) la naturaleza tentativa y constructivista del conocimiento cientifico, c) el uso de una metodologia que garantiza cierto grado de objetividad y con el que se justifican y validan los enunciados cientificos y d) la funcion instrumental del conocimiento cientifico. Sin embargo, entre los docentes participantes de este estudio prevalecen ciertas concepciones epistemologicas erroneas acerca de las ciencias naturales, a la luz de la literatura consultada. Entre estas concepciones se destacan las siguientes: a) tendencia inductivista en el que las teorias cientificas comienzan con observaciones que establecen generalizaciones, b) secuencia jerarquica de la metodologia cientifica. Ademas, entre los docentes participantes de este estudio prevalecen concepciones epistemologicas adecuadas acerca de las ideologias, a la luz de la literatura consultada. Entre estas concepciones se destacan las siguientes: a) la funcion de las ideologias y b) la ausencia de validez ante el conocimiento cientifico. Sin embargo, en cuanto a considerar las ciencias naturales como una ideologia mas conocida como cientificismo, no hubo consistencia en las respuestas de los participantes por lo que no es posible afirmarlo o negarlo. Los hallazgos tambien revelaron que entre los docentes participantes hubo posiciones a favor y en contra para las dos situaciones sobre asuntos publicos relacionados a la ciencia que se presentaron. Estas posiciones fueron justificadas con argumentos cientificos y argumentos ideologicos, entre estos, los morales y los economicos. Con este dato se puede afirmar el uso de las ideologias en asuntos publicos relacionados a la ciencia.
Estudio de la formación de galaxias espirales en un modelo de agregación jerárquica
NASA Astrophysics Data System (ADS)
Tissera, P.; Saiz, A.; Dominguez-Tenreiro, R.
El estudio de formación de galaxias espirales ha llevado al desarrollo de numerosos modelos teóricos (e.g. White & Rees 1978). En la actualidad, el modelo más aceptado predice la formación de una galaxia espiral a partir del colapso disipativo del gas en el pozo de potencial de un halo oscuro, conservando su momento angular específco (Fall & Efstathiou 1980). En los últimos años, ha sido posible realizar simulaciones numéricas hidrodinámicas, las cuales describen la evolución conjunta de la materia oscura y los bariones. Estos experimentos han señalado la dificultad de formar estructuras discoidales con propiedades consistentes con las observaciones, en modelos de agregación jerárquica. El problema principal se origina en la pérdida catastrófica de momento angular de la componente disipativa, durante el proceso de ensamblaje de los objetos, a través de la fusión de subestructura (Navarro & Steinmetz 1997). Estos experimentos no incluían procesos de formación estelar. En este trabajo, se expondrán resultados de simulaciones hidrodinámicas cosmológicas, incluyendo formación estelar (Tissera et al 1997), donde ha sido posible reproducir objetos discoidales con contrapartida observacional. El elemento fundamental ha sido la formación de bulbos estelares, los cuales han evitado la pérdida catastrófica de momento angular de los bariones. Se encontró que los discos exponenciales puramente gaseosos son altamente inestables y suceptibles de generar barras, responsables de la pérdida de momento angular y la caída violenta del gas hacia la región central. Estas inestabilidades son fácilmente inducidas durante interacciones y fusiones con objetos vecinos (Barnes & Hernquist 1996). Un bulbo estelar (o un objeto masivo y compacto) estabiliza el disco ante perturbaciones externas, asegurándole un potencial simétrico (Sellwood & Moore 1998, Van der Bosch 1998). En este caso, el gas en el disco no pierde completamente su momento angular intrínseco durante las fusiones, sino que, las sobrevive aportando una contribución distinta de cero, a partir de la cual el disco se regenera acretando en una segunda etapa, gas del halo de acuerdo al modelo tradicional de Fall & Efstathiou.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Vera, T.; Abraham, S.; Oviedo, A.
The integration of the sterile insect technique (SIT) in the management of the South American fruit fly Anastrepha fraterculus (Wiedemann) (Diptera: Tephritidae) is a promising alternative to chemically-based control in those areas where it is sympatric with Ceratitis capitata (Wiedemann) (Diptera: Tephritidae) or other tephritid species for which the SIT is being used. Implementation of the SIT requires the development of a cost effective mass-rearing protocol. In this work, we present demographic and quality control parameters for the A. fraterculus strain reared at the Estacion Experimental Agroindustrial Obispo Colombres, Tucuman, Argentina. Considering the rearing cage as the reproduction unit, wemore » observed that fecundity is optimal during the first 3 weeks after the onset of oviposition. Fertility was constant during this period. During 2003 and 2004, some improvements were made to the existing rearing protocol, which resulted in increased larval viability, pupal weight, and adult emergence. Current weekly egg production is 1 million per week. These eggs are used to maintain the colony and to assess quality parameters. Finally, research needs leading to improved yields and fly quality are discussed. (author) [Spanish] La integracion de la Tecnica del Insecto Esteril (TIE) en el combate integrado de la mosca Sudamericana de la fruta, Anastrepha fraterculus (Wiedemann) (Diptera: Tephritidae), es una alternativa interesante para reemplazar al control quimico en aquellas zonas donde esta especie es simpatrica con Ceratitis capitata (Wiedemann) (Diptera: Tephritidae) u otros tefritidos para los que ya se utiliza la TIE. La implementacion de la TIE requiere del desarrollo de un protocolo de cria masiva que sea costo-efectivo. En este trabajo presentamos parametros demograficos y de control de calidad de la cepa criada en la Estacion Experimental Agroindustrial Obispo Colombres, Tucuman, Argentina. Considerando a la jaula de cria como unidad reproductiva, se observo que la fecundidad es optima durante las tres primeras semanas de iniciada la oviposicion y que la fertilidad se mantiene constante durante ese periodo. Durante 2003-2004 se implementaron mejoras en el protocolo de cria existente lo que resulto en un incremento de la viabilidad larvaria, del peso de pupas y del porcentaje de emergencia de adultos. La produccion actual semanal es de un millon de huevos. Los mismos son utilizados para mantener la colonia y realizar distintos estudios de calidad de esta cepa. Por ultimo, se sugieren necesidades de investigacion para alcanzar mejores rendimientos. (author)« less
Evaluation of the Training Component of the Servicio National de Desarrollo de la Comunidad.
ERIC Educational Resources Information Center
Buschman, Mel; Thullen, Manfred
Since 1970, the Servicio National de Desarrollo de la Comunidad (SNDC) has been in existence as an autonomous decentralized government agency. Its main effort has been to integrate Bolivia's 3.4 million rural inhabitants, the "campesinos," into the mainstream of national socioeconomic programs through self-help development projects at…
A Research Program in Computer Technology
1976-07-01
K PROGRAM VERIFICATION 12 [Shaw76b] Shaw, M., W. A. Wulf, and R. L. London, Abstraction and Verification ain Aiphard: Iteration and Generators...millisecond trame of speech: pitch, gain, and 10 k -parameters (often called reflection coefficients). The 12 parameters from each frame are encoded into...del rey, CA 90291 Program Code 3D30 & 3P1O I,%’POLLING OFFICE NAME AND ADDRESS 12 REPORT DATE Defense Advanced Research Projects Agency July 1976 1400
1982-12-01
Sequence dj Estimate of the Desired Signal DEL Sampling Time Interval DS Direct Sequence c Sufficient Statistic E/T Signal Power Erfc Complimentary Error...Namely, a white Gaussian noise (WGN) generator was added. Also, a statistical subroutine was added in order to assess performance improvement at the...reference code and then passed through a correlation detector whose output is the sufficient 1 statistic , e . Using a threshold device and the sufficient
Chen, Yong; Yang, Fuwei; Zheng, Hexin; Zhu, Ganghua; Hu, Peng; Wu, Weijing
2015-12-01
To explore the molecular etiology of two pedigrees affected with type II Waardenburg syndrome (WS2) and to provide genetic diagnosis and counseling. Blood samples were collected from the proband and his family members. Following extraction of genomic DNA, the coding sequences of PAX3, MITF, SOX10 and SNAI2 genes were amplified with PCR and subjected to DNA sequencing to detect potential mutations. A heterozygous deletional mutation c.649_651delAGA in exon 7 of the MITF gene has been identified in all patients from the first family, while no mutation was found in the other WS2 related genes including PAX3, MITF, SOX10 and SNAI2. The heterozygous deletion mutation c.649_651delAGA in exon 7 of the MITF gene probably underlies the disease in the first family. It is expected that other genes may also underlie WS2.
Substantial advantage of a combined Bayesian and genotyping approach in testosterone doping tests.
Schulze, Jenny Jakobsson; Lundmark, Jonas; Garle, Mats; Ekström, Lena; Sottas, Pierre-Edouard; Rane, Anders
2009-03-01
Testosterone abuse is conventionally assessed by the urinary testosterone/epitestosterone (T/E) ratio, levels above 4.0 being considered suspicious. A deletion polymorphism in the gene coding for UGT2B17 is strongly associated with reduced testosterone glucuronide (TG) levels in urine. Many of the individuals devoid of the gene would not reach a T/E ratio of 4.0 after testosterone intake. Future test programs will most likely shift from population based- to individual-based T/E cut-off ratios using Bayesian inference. A longitudinal analysis is dependent on an individual's true negative baseline T/E ratio. The aim was to investigate whether it is possible to increase the sensitivity and specificity of the T/E test by addition of UGT2B17 genotype information in a Bayesian framework. A single intramuscular dose of 500mg testosterone enanthate was given to 55 healthy male volunteers with either two, one or no allele (ins/ins, ins/del or del/del) of the UGT2B17 gene. Urinary excretion of TG and the T/E ratio was measured during 15 days. The Bayesian analysis was conducted to calculate the individual T/E cut-off ratio. When adding the genotype information, the program returned lower individual cut-off ratios in all del/del subjects increasing the sensitivity of the test considerably. It will be difficult, if not impossible, to discriminate between a true negative baseline T/E value and a false negative one without knowledge of the UGT2B17 genotype. UGT2B17 genotype information is crucial, both to decide which initial cut-off ratio to use for an individual, and for increasing the sensitivity of the Bayesian analysis.
SnoRNA Snord116 (Pwcr1/MBII-85) Deletion Causes Growth Deficiency and Hyperphagia in Mice
Ding, Feng; Li, Hong Hua; Zhang, Shengwen; Solomon, Nicola M.; Camper, Sally A.; Cohen, Pinchas; Francke, Uta
2008-01-01
Prader-Willi syndrome (PWS) is the leading genetic cause of obesity. After initial severe hypotonia, PWS children become hyperphagic and morbidly obese, if intake is not restricted. Short stature with abnormal growth hormone secretion, hypogonadism, cognitive impairment, anxiety and behavior problems are other features. PWS is caused by lack of expression of imprinted genes in a ∼4 mb region of chromosome band 15q11.2. Our previous translocation studies predicted a major role for the C/D box small nucleolar RNA cluster SNORD116 (PWCR1/HBII-85) in PWS. To test this hypothesis, we created a ∼150 kb deletion of the >40 copies of Snord116 (Pwcr1/MBII-85) in C57BL/6 mice. Snord116del mice with paternally derived deletion lack expression of this snoRNA. They have early-onset postnatal growth deficiency, but normal fertility and lifespan. While pituitary structure and somatotrophs are normal, liver Igf1 mRNA is decreased. In cognitive and behavior tests, Snord116del mice are deficient in motor learning and have increased anxiety. Around three months of age, they develop hyperphagia, but stay lean on regular and high-fat diet. On reduced caloric intake, Snord116del mice maintain their weight better than wild-type littermates, excluding increased energy requirement as a cause of hyperphagia. Normal compensatory feeding after fasting, and ability to maintain body temperature in the cold indicate normal energy homeostasis regulation. Metabolic chamber studies reveal that Snord116del mice maintain energy homeostasis by altered fuel usage. Prolonged mealtime and increased circulating ghrelin indicate a defect in meal termination mechanism. Snord116del mice, the first snoRNA deletion animal model, reveal a novel role for a non-coding RNA in growth and feeding regulation. PMID:18320030
Fort Casamartina, Eduard; Arribas Hortiguela, Lorena; Bleda Pérez, Carmen; Muñoz Sánchez, Carme; Peiro Martínez, Imma; Perayre Badía, María; Clopés Estela, Ana
2016-06-03
Durante la última década, el conocimiento de nuevos mecanismos implicados en el desarrollo del cáncer ha permitido el diseño de nuevos fármacos para su tratamiento y la mayor parte de ellos son fármacos que se administran por vía oral. Uno de los principales problemas de los pacientes oncohematológicos es la desnutrición, que suele tener causas multifactoriales (de la propia enfermedad, de los pacientes y de los diferentes tratamientos administrados). Para minimizar el impacto de la desnutrición es necesaria una intervención nutricional, ya sea adaptando la dieta o mediante la instauración de soporte nutricional artificial, en función de la gravedad de cada caso. En cualquier paciente que esté recibiendo un tratamiento oncológico hay que evaluar las posibles interacciones que pueden existir con el soporte nutricional instaurado, ya sea dieta oral, suplementación oral o nutrición enteral. Estas interacciones pueden disminuir la eficacia, aumentar la toxicidad de los tratamientos o producir déficits nutricionales. Se detallan las principales interacciones que se pueden producir, las interacciones entre los tratamientos oncológicos y el soporte nutricional.
Reyes-Rodríguez, Mae Lynn; García, Marissa; Silva, Yormeri; Sala, Margarita; Quaranta, Michela; Bulik, Cynthia M.
2016-01-01
Resumen El objetivo de este estudio fue desarrollar fotonovelas, un tipo de novela gráfica popular en la población latina, para crear conciencia y educar sobre los trastornos de la conducta alimentaria (TCA). Cuatro caricaturas ilustradas y guiones adaptados para adultos y adolescentes de ambos sexos fueron presentados en discusiones focales y en una entrevista de profundidad. Diecisiete latinos adultos (14 mujeres; 3 hombres) y 10 adolescentes (9 féminas; 1 varón) participaron en el estudio. Los participantes encontraron las fotonovelas interesantes y que captaban más la atención que los folletos tradicionales. El uso del espanglish y la clarificación de las diferencias entre los TCA fueron sugeridos por las adolescentes femeninas. Los adultos varones sugirieron cambiar el título, que se enfocara en las consecuencias en la salud de los TCA para que llame la atención en los hombres a leer la historia. Basado en la aceptación encontrada en este estudio, la fotonovela pudiera ser una avenida prometedora para crear conciencia y educar a la comunidad latina sobre los TCA en los Estados Unidos. PMID:27313838
[Concentration of thyrotropic hormone and free thyroxin in children with Down's syndrome].
Jiménez-López, V; Arias, A; Arata-Bellabarba, G; Vivas, E; Delgado, M C; Paoli, M
2001-06-01
The incidence of hypothyroidism is higher among children with Down syndrome than among children in the general population. The frequency of hypothyroidism is higher in the areas of endemic goiter than in other areas. The aim of this paper was to study the concentrations of TSH and FT4 in children with Down syndrome residents of Mérida, a region of Venezuelan Andes. At the Centro de Estudio y Prevención del Retardo Mental y Alteraciones en el Desarrollo (CEPREMAD), the thyroid function was studied in 48 children (1 month to 6 years old), who had Down syndrome, and in 123 healthy children of similar ages. All the children were referred to the Center for thyroid function evaluation. Two (4.2%) of the 48 children with Down syndrome had congenital hypothyroidism and 22 (45.8%) had subclinical hypothyroidism (high concentration of thyrotropin-TSH). Among the control children, only 14% had elevated levels of TSH. There were no differences in relation to the gender. In conclusion in children with Down syndrome, the frequency of high concentrations of TSH was three times higher than the frequency among the healthy children. The frequency of hypothyroidism was similar to that found in areas without endemic goiter.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Keyser, David; Flores-Espino, Francisco; Uriarte, Caroline
This is a Spanish translation of 'User Guide for the International Jobs and Economic Development Impacts Model.' The International Jobs and Economic Development Impacts (I-JEDI) model is a freely available economic model that estimates gross economic impacts from wind, solar, and geothermal energy projects for several different countries. Building on the original JEDI model, which was developed for the United States, I-JEDI was developed under the USAID Enhancing Capacity for Low Emission Development Strategies (EC-LEDS) program to support countries in assessing economic impacts of LEDS actions in the energy sector. I-JEDI estimates economic impacts by characterizing the construction and operationmore » of energy projects in terms of expenditures and the portion of these expenditures made within the country of analysis. These data are then used in a country-specific input-output (I-O) model to estimate employment, earnings, gross domestic product (GDP), and gross output impacts. Total economic impacts are presented as well as impacts by industry. This user guide presents general information about how to use I-JEDI and interpret results as well as detailed information about methodology and model limitations.« less
Federal Register 2010, 2011, 2012, 2013, 2014
2011-08-09
... Fundacion Para La Educacion Y El Desarrollo Social, Cali, Colombia; c/o Inversiones Corporativas LTDA., Cali, Colombia; c/o Inversiones Sardi Alzate S.C.S., Cali, Colombia; c/o Outsourcing De Operaciones S.A., Bogota... La Educacion Y El Desarrollo Social, Cali, Colombia; c/o Inversiones Corporativas LTDA., Cali...
Reflexión bioética sobre el uso de organismos genéticamente modificados
Yunta, Eduardo Rodríguez
2011-01-01
El presente artículo reflexiona desde los 4 principios de la bioética el uso comercial de organismos genéticamente modificados. Se cuestiona fundamentalmente la falta de transferencia de tecnología entre el mundo desarrollado y en desarrollo y el que el presente sistema de patentamiento de organismos vivos modificados fomenta intereses comerciales y no da debida importancia al desarrollo sostenible de la agricultura y ganadería en los países en desarrollo, donde más se necesita. Se reflexiona sobre la importancia que tiene evaluar los riesgos antes de introducirse en el mercado organismos genéticamente modificados y la necesidad de regulación en los países. PMID:21927675
Bradshaw, Debbie; Groenewald, Pamela; Bourne, David E.; Mahomed, Hassan; Nojilana, Beatrice; Daniels, Johan; Nixon, Jo
2006-01-01
OBJECTIVE: To review the quality of the coding of the cause of death (COD) statistics and assess the mortality information needs of the City of Cape Town. METHODS: Using an action research approach, a study was set up to investigate the quality of COD information, the accuracy of COD coding and consistency of coding practices in the larger health subdistricts. Mortality information needs and the best way of presenting the statistics to assist health managers were explored. FINDINGS: Useful information was contained in 75% of death certificates, but nearly 60% had only a single cause certified; 55% of forms were coded accurately. Disagreement was mainly because routine coders coded the immediate instead of the underlying COD. An abridged classification of COD, based on causes of public health importance, prevalent causes and selected combinations of diseases was implemented with training on underlying cause. Analysis of the 2001 data identified the leading causes of death and premature mortality and illustrated striking differences in the disease burden and profile between health subdistricts. CONCLUSION: Action research is particularly useful for improving information systems and revealed the need to standardize the coding practice to identify underlying cause. The specificity of the full ICD classification is beyond the level of detail on the death certificates currently available. An abridged classification for coding provides a practical tool appropriate for local level public health surveillance. Attention to the presentation of COD statistics is important to enable the data to inform decision-makers. PMID:16583080
Bradshaw, Debbie; Groenewald, Pamela; Bourne, David E; Mahomed, Hassan; Nojilana, Beatrice; Daniels, Johan; Nixon, Jo
2006-03-01
To review the quality of the coding of the cause of death (COD) statistics and assess the mortality information needs of the City of Cape Town. Using an action research approach, a study was set up to investigate the quality of COD information, the accuracy of COD coding and consistency of coding practices in the larger health subdistricts. Mortality information needs and the best way of presenting the statistics to assist health managers were explored. Useful information was contained in 75% of death certificates, but nearly 60% had only a single cause certified; 55% of forms were coded accurately. Disagreement was mainly because routine coders coded the immediate instead of the underlying COD. An abridged classification of COD, based on causes of public health importance, prevalent causes and selected combinations of diseases was implemented with training on underlying cause. Analysis of the 2001 data identified the leading causes of death and premature mortality and illustrated striking differences in the disease burden and profile between health subdistricts. Action research is particularly useful for improving information systems and revealed the need to standardize the coding practice to identify underlying cause. The specificity of the full ICD classification is beyond the level of detail on the death certificates currently available. An abridged classification for coding provides a practical tool appropriate for local level public health surveillance. Attention to the presentation of COD statistics is important to enable the data to inform decision-makers.
ITAS - A Better Way of Coding.
1980-03-01
ray tube, eliminates the tedium and time delays associated with conventional language programing. G ! vii SECTION I The Problem Our objective was to...8217 Input Gan+ Delay •Del ay Gai Figure 1 - An Itagram of a first order recursive digital filter. 3 ktmuIeN PAM NO FILMED MAR Using a light pen, the user... the computer in a positive active role, i.e. the user has to determine why an answer is wrong and take action to correct the fault. This is accomplished
Puerto Rico, humedales [Puerto Rico, wetlands
Adams, D. Briane; Hefner, John M.; Dopazo, Teresa
1999-01-01
La isla de Puerto Rico, localizada al noreste del Mar Caribe y sus islas principales, Vieques, Culebra e Isla de Mona, poseen humedales en abundancia . El clima subtropical, la lluvia abundante y las complejas formas topográficas y geológicas de estas islas dan origen a los humedales, que varían desde los raros e inusuales bosques cubiertos por nubes en las tierras altas, hasta los extensos manglares, yerbas marinas y arrecifes de coral a lo largo de las costas Norte y Sur. Sin embargo, los humedales en Puerto Rico han disminuido en los últimos siglos como resultado del aumento en el desarrollo agrícola, poblacional y turístico. Algunos tipos de humedales como los bosques de palo de pollo (Pterocarpus officinalis) se han reducido a sólo unos pocos remanentes (figura 1).Biológicamente hablando, los humedales de las islas están entre las áreas más productivas. Los humedales asociados con el bosque pluvial en las tierras altas del interior de Puerto Rico contienen varias plantas raras y especies de animales que no se encuentran en otras partes de la Isla. El agua de escorrentía proveniente de los humedales en las partes altas de la Isla proveen una fuente de agua que utilizan varias ciudades para abasto público. Los humedales costeros como los mangles, los colchones de yerbas marinas y los arrecifes de coral proveen áreas para la reproducción y crianza de varios peces, crustáceos y otras especies en la cadena alimenticia (López y otros, 1988). De esta manera, los humedales costeros contribuyen a la productividad biológica de las aguas llanas del mar alrededor de las islas . Los humedales también estabilizan las costas atrapando y reteniendo sedimentos no consolidados y amortiguan la acción de las olas y de las tormentas que tienen el potencial de causar daños en la zona.El valor de los humedales de Puerto Rico para la vida silvestre está muy bien documentado . Por ejemplo, las salinas de Cabo Rojo, en la costa suroeste, proveen áreas para el descanso y la alimentación de cientos de aves migratorias en ruta entre Norte y Suramérica. Antes del drenaje de los humedales costeros para propósitos agrícolas, pantanos de agua dulce como los de la Laguna Cartagena, Laguna Guánica y Ciénaga El Anegado proveían hábitat a más de 1 00 especies de aves residentes y migratorias . Los humedales de las tierras altas del área central son el último refugio de la cotorra puertorriqueña, una especie en peligro de extinción. Aún los humedales del área metropolitana de San Juan (Laguna La Torrecilla, Torrecilla Baja, Laguna de Piñones hasta Punta Vacía Talega) proveen un hábitat excelente para la vida silvestre, mantienen criaderos de peces de alto valor económico y proveen recreación y oportunidades educativas a la población urbana.Treintiocho especies de vertebrados, moluscos y crustáceos, y 46 especies de aves, algunos raros o en peligro de extinción como la mariquita, el alcatraz, el pato dominicano, el pato silbón y la paloma cabeciblanca han sido observados en el área . También las playas asociadas con estos humedales urbanos proveen sitios de anidaje para las tortugas carey de concha y tinglar, ambas en peligro de extinción (Del Llano y otros, 1986).
2006-05-25
desempeño económico en las áreas rurales. Bogotá: Universidad Externado de Colombia & Fondo Financiero de Proyectos de Desarrollo. 1997. Bilyeu, Elisabeth...Ediciones B Colombia, S.A.. 2004. Presidencia República de Colombia. Plan Nacional de Desarrollo 2002-2006: Hacia un Estado Comunitario. Bogotá
[Acute myocardial infarction with ST-segment elevation: Code I].
Borrayo-Sánchez, Gabriela; Rosas-Peralta, Martín; Pérez-Rodríguez, Gilberto; Ramírez-Árias, Erick; Almeida-Gutiérrez, Eduardo; Arriaga-Dávila, José de Jesús
2018-01-01
Code infarction is a timely strategy for the treatment of acute myocardial infarction (AMI) with elevation of the ST segment. This strategy has shown an increase in survival and quality of life of patients suffering from this event around the world. The processes of management and disposition aimed at the reduction of time for effective and timely reperfusion are undoubtedly a continuous challenge. In the Instituto Mexicano del Seguro Social (IMSS) the mortality due to AMI has been reduced more than 50%, which is a historical situation that deserves much attention. Nonetheless, the continuous improvement and a wider coverage of this strategy in our country are the key factors that will outline a change in the natural history of the leading cause of death in Mexico. This review focuses on current strategies for the management of patients with acute myocardial infarction.
Corella Aznar, Elena Guadalupe; Ayerza Casas, Ariadna; Samper Villagrasa, Pilar; Rodríguez Vigil, Carmen; Jiménez Montañés, Lorenzo; Calvo Escribano, Carlota; Labarta Aizpun, José Ignacio
2016-06-30
Introducción: los supervivientes de leucemia aguda (LA) infantil presentan un riesgo incrementado de alteraciones metabólicas y cardiovasculares que aumentan su morbimortalidad a largo plazo.Objetivo: estimar la prevalencia de obesidad, resistencia a la insulina, dislipemia e hipertensión arterial como factores de riesgo cardiometabólico (FRCM) en un grupo de supervivientes de LA infantil, y analizar las posibles causas asociadas a su desarrollo.Material y métodos: estudio observacional retrospectivo en 47 supervivientes de LA tratados en un periodo de 4 años, que recibieron seguimiento durante 10 años.Resultados: el 40% de los participantes presentaron al menos un FRCM durante el seguimiento, siendo la dislipemia (aumento LDL) el más frecuente (38,3%), seguido de obesidad/sobrepeso (31,9%) y HTA sistólica (23,4%). El sexo femenino se estableció como factor de riesgo parael desarrollo de todos ellos (RR 1,6; RR 3,16; RR 1,69; p < 0,05). Ningún superviviente desarrolló diabetes mellitus, pero sí resistencia a la insulina el 19,4%. Los pacientes con leucemias de peor pronóstico presentaron mayor riesgo de desarrollar obesidad, resistencia a la insulina y aumento de LDL (RR 3,56; RR 4,08; RR 2,53; p < 0,05). Los pacientes tratados con trasplante de progenitores hematopoyéticos presentaron mayor riesgo de obesidad, aumento de LDL e HTA sistólica (RR 2,86; RR 2,39; RR 3,12; p<0,05). La radioterapia se asoció de igual modo con un incremento de resistencia a la insulina e hipertensión arterial sistólica (RR 2,47; RR 2,53; p < 0,05).Conclusiones: existe un aumento en la prevalencia de obesidad/sobrepeso, dislipemia, resistencia a la insulina y alteración de la tensión arterial sistólica en supervivientes de leucemia aguda infantil a lo largo del tiempo, especialmente en aquellos con enfermedades y tratamientos más agresivos.
1997-03-01
extraregional sponsor of Alianza para el Desarrollo Sostenible (Sustainable Development Alliance - ALIDES), along with United States and Canada. ALIDES is...more stable the government the better the country will be able to solve its environmental problems. 42 Glossary ALIDES Alianza para el Desarrollo ... Sostenible (Sustainable Development Alliance) C Centigrade CFCs Chlorofluorocarbons BECC Border Environment Cooperation Commission BNC Binational
The c.64_80del SMIM1 allele is segregating in the Hutterite population.
Coghlan, Gail; Zelinski, Teresa
2016-04-01
The high-incidence red blood cell (RBC) antigen Vel is coded by SMIM1 (small-membrane molecule 1 gene), where a homozygous 17 base pair deletion underlies the majority of Vel- phenotypes. Because anti-Vel has been reported to cause severe hemolytic transfusion reactions and periodically hemolytic disease of the newborn and fetus, identification of individuals negative for Vel is clinically important. RBCs from the members of a large three-generation Hutterite family were serologically determined to be Vel+(w) . Genomic DNA from these family members was polymerase chain reaction amplified and analyzed for SMIM1 polymorphisms by either Sanger sequencing or restriction fragment length polymorphisms. SMIM1 genotyping was also conducted on DNA from an additional 104 Hutterites. All family members whose RBCs weakly expressed the Vel antigen were found to be heterozygous for the c.64_80del mutation in SMIM1. Of the 104 additional Hutterite samples, four were found to be heterozygous for the same SMIM1 mutation. After emigrating to the United States and Canada, the Hutterite population has expanded dramatically. Alleles that initially entered the population have been maintained within the population. The c.64_80del null allele of SMIM1 is one such allele, thus having implications for transfusion medicine and child or maternal health. © 2015 AABB.
Coppola, Federico; Campbell, Juan Iaconis; Herrero, Juan Manuel; Volpe, Emilio; Cersosimo, Tito
2017-01-01
Resumen Introducción: Los meningiomas Grado II tienen un comportamiento biológico más agresivo que los Grado I. A partir del año 2007, con los nuevos criterios de clasificación, la incidencia de meningiomas atípicos reportada aumentó hasta un 35%. Objetivo: Establecer diferencias entre los Meningiomas Grado I y II de la clasificación de la OMS, en lo que respecta a: grados de resección de Simpson, localización tumoral, necesidad de reintervención, tratamiento adyuvante, evolución y mortalidad. Métodos: Estudio retrospectivo de 63 pacientes operados entre el periodo 2009-2015. Variables analizadas: sexo, edad, grado histológico, localización, grado de resección quirúrgica, radioterapia adyuvante, mortalidad y evolución. Resultados: Se analizaron 63 pacientes: 51 Grado I y 12 Grado II de la clasificación de la OMS. La distribución por sexo no mostró diferencias entre meningiomas benignos y atípicos. Tampoco el grupo etario de presentación; mediana de 57 años. Un 55% de los meningiomas benignos se localizaron fuera de la base del cráneo versus el 91,6% de los meningiomas atípicos (P = 0.02). En el 74,5% de los meningiomas benignos se logró una resección total (Simpson I-II-III) versus el 58.3% para los atípicos (P = 0.3). Se reintervinieron el 33,3% de meningiomas atípicos en comparación con el 9.8% de los benignos (P = 0.03). Tuvieron una buena evolución el 86,2% de los benignos vs el 53,8% de los GII (P = 0.01). Realizaron radioterapia adyuvante el 33,3% de los meningiomas Grado II vs el 1,9% de los Grado I. Conclusiones: Los meningiomas atípicos cerebrales tienen peor pronóstico evolutivo que los Grado I de la OMS. Presentan una mayor tasa de reintervención y se localizan más frecuentemente fuera de la base del cráneo. La localización pareciera ser un factor de riesgo para el desarrollo de meningiomas atípicos. PMID:29142779
Sousa, Fátima Aparecida Emm Faleiros; Silva, Talita de Cássia Raminelli da; Siqueira, Hilze Benigno de Oliveira Moura; Saltareli, Simone; Gomez, Rodrigo Ramon Falconi; Hortense, Priscilla
2016-08-18
to describe acute and chronic pain from the perspective of the life cycle. participants: 861 people in pain. The Multidimensional Pain Evaluation Scale (MPES) was used. in the category estimation method the highest descriptors of chronic pain for children/ adolescents were "Annoying" and for adults "Uncomfortable". The highest descriptors of acute pain for children/adolescents was "Complicated"; and for adults was "Unbearable". In magnitude estimation method, the highest descriptors of chronic pain was "Desperate" and for descriptors of acute pain was "Terrible". the MPES is a reliable scale it can be applied during different stages of development. descrever a dor aguda e a crônica na perspectiva do ciclo vital. Métodos: participaram 861 pessoas com dor. Foi utilizada a Escala Multidimensional de Avaliação da Dor (EMADOR). Resultados: no método da estimação de categoria o descritor da dor crônica de maior atribuição para crianças e adolescentes foi "Chata" e para adultos foi "Desconfortável". Os descritores de maior atribuição para dor aguda em crianças e adolescentes foram "Complicada" e em adultos "Insuportável". No método de estimação de magnitude, o descritor de maior atribuição na dor crônica foi "Atormentadora" e na dor aguda foi "Terrível". a EMADOR é uma escala confiável e pode ser utilizada nas diferentes etapas do desenvolvimento humano. la descripción del dolor agudo y crónico desde las perspectiva del ciclo de vida. participaron 861 personas con dolor. Se utilizó la Escala Multidimensional de Evaluación del Dolor (EMEDOR). en el método de estimación de categoría el descriptor de dolor crónico más alto para niños y adolescentes fue de Molesto y para adultos fue Incómodo. Los descriptores mayores de dolor agudo para niños y adolescentes fueron Complejo y para adultos Insoportable. En el método de estimación de magnitud, el mayor descriptor de dolor crónico fueron Atormentador y el mayor de dolor agudo fue Terrible. la EMEDOR es una escala confiable y puede ser utilizada en diferentes etapas de desarrollo.
Kumar, Rakesh; Mandal, B; Geetanjali, A S; Jain, R K; Jaiwal, P K
2010-08-01
Watermelon bud necrosis virus (WBNV), a member of the genus Tospovirus, family Bunyaviridae is an important viral pathogen in watermelon cultivation in India. The complete genome sequence properties of WBNV are not available. In the present study, the complete M RNA sequence and the genome organisation of a WBNV isolate infecting watermelon in Delhi (WBNV-wDel) were determined. The M RNA was 4,794 nucleotides (nt) long and potentially coded for a movement protein (NSm) of 34.22 kDa (307 amino acids) on the viral sense strand and a Gn/Gc glycoprotein precursor of 127.15 kDa (1,121 amino acids) on the complementary strand. The two open reading frames were separated by an intergenic region of 402 nt. The 5' and 3' untranslated regions were 55 and 47 nt long, respectively, containing complementary termini typical of tospoviruses. WBNV-wDel was most closely related (79.1% identity) to Groundnut bud necrosis virus, an important tospovirus that occurs in several crops in India, and was different (63.3-75.2% identity) from the other cucurbit-infecting tospoviruses known to occur in Taiwan and Japan. Sequence analysis of NSm and Gn/Gc revealed phylogenetic incongruence between WBNV-wDel and another isolate originating from central India (WBNV-Wm-Som isolate). The Wm-Som isolate showed evolutionary divergence from the wDel isolate in the Gn/Gc protein (74.6% identity) potentially due to recombination with the other tospoviruses that are known to occur in India. This is the first report of a comparison of complete sequences of M RNA of WBNV.
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.
Cameron, Jessie M; MacKay, Nevena; Feigenbaum, Annette; Tarnopolsky, Mark; Blaser, Susan; Robinson, Brian H; Schulze, Andreas
2015-09-01
Two siblings with hypertrophic cardiomyopathy and brain atrophy were diagnosed with Complex I deficiency based on low enzyme activity in muscle and high lactate/pyruvate ratio in fibroblasts. Whole exome sequencing results of fibroblast gDNA from one sibling was narrowed down to 190 SNPs or In/Dels in 185 candidate genes by selecting non-synonymous coding sequence base pair changes that were not present in the SNP database. Two compound heterozygous mutations were identified in both siblings in NDUFV2, encoding the 24 kDa subunit of Complex I. The intronic mutation (c.IVS2 + 1delGTAA) is disease causing and has been reported before. The other mutation is novel (c.669_670insG, p.Ser224Valfs*3) and predicted to cause a pathogenic frameshift in the protein. Subsequent investigation of 10 probands with complex I deficiency from different families revealed homozygosity for the intronic c.IVS2 + 1delGTAA mutation in a second, consanguineous family. In this family three of five siblings were affected. Interestingly, they presented with Leigh syndrome but no cardiac involvement. The same genotype had been reported previously in a two families but presenting with hypertrophic cardiomyopathy, trunk hypotonia and encephalopathy. We have identified NDUFV2 mutations in two families with Complex I deficiency, including a novel mutation. The diagnosis of Leigh syndrome expands the clinical phenotypes associated with the c.IVS2 + 1delGTAA mutation in this gene. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Solid Rocket Motor Combustion Instability Modeling in COMSOL Multiphysics
NASA Technical Reports Server (NTRS)
Fischbach, S. R.
2015-01-01
Combustion instability modeling of Solid Rocket Motors (SRM) remains a topic of active research. Many rockets display violent fluctuations in pressure, velocity, and temperature originating from the complex interactions between the combustion process, acoustics, and steady-state gas dynamics. Recent advances in defining the energy transport of disturbances within steady flow-fields have been applied by combustion stability modelers to improve the analysis framework. Employing this more accurate global energy balance requires a higher fidelity model of the SRM flow-field and acoustic mode shapes. The current industry standard analysis tool utilizes a one dimensional analysis of the time dependent fluid dynamics along with a quasi-three dimensional propellant grain regression model to determine the SRM ballistics. The code then couples with another application that calculates the eigenvalues of the one dimensional homogenous wave equation. The mean flow parameters and acoustic normal modes are coupled to evaluate the stability theory developed and popularized by Culick. The assumption of a linear, non-dissipative wave in a quiescent fluid remains valid while acoustic amplitudes are small and local gas velocities stay below Mach 0.2. The current study employs the COMSOL Multiphysics finite element framework to model the steady flow-field parameters and acoustic normal modes of a generic SRM. This work builds upon previous efforts to verify the use of the acoustic velocity potential equation (AVPE) laid out by Campos. The acoustic velocity potential (psi) describing the acoustic wave motion in the presence of an inhomogeneous steady high-speed flow is defined by, del squared psi - (lambda/c) squared psi - M x [M x del((del)(psi))] - 2((lambda)(M)/c + M x del(M) x (del)(psi) - 2(lambda)(psi)[M x del(1/c)] = 0. with M as the Mach vector, c as the speed of sound, and ? as the complex eigenvalue. The study requires one way coupling of the CFD High Mach Number Flow (HMNF) and mathematics module. The HMNF module evaluates the gas flow inside of a SRM using St. Robert's law to model the solid propellant burn rate, slip boundary conditions, and the supersonic outflow condition. Results from the HMNF model are verified by comparing the pertinent ballistics parameters with the industry standard code outputs (i.e. pressure drop, axial velocity, exit velocity). These results are then used by the coefficient form of the mathematics module to determine the complex eigenvalues of the AVPE. The mathematics model is truncated at the nozzle sonic line, where a zero flux boundary condition is self-satisfying. The remaining boundaries are modeled with a zero flux boundary condition, assuming zero acoustic absorption on all surfaces. The one way coupled analysis is perform four times utilizing geometries determined through traditional SRM modeling procedures. The results of the steady-state CFD and AVPE analyses are used to calculate the linear acoustic growth rate as is defined by Flandro and Jacob. In order to verify the process implemented within COMSOL we first employ the Culick theory and compare the results with the industry standard. After the process is verified, the Flandro/Jacob energy balance theory is employed and results displayed.
78 FR 66990 - Additional Designations, Foreign Narcotics Kingpin Designation Act
Federal Register 2010, 2011, 2012, 2013, 2014
2013-11-07
...) [SDNTK] (Linked To: ARRENDADORA TURIN, S.A.; Linked To: DESARROLLOS BIO GAS, S.A. DE C.V.; Linked To: ECA...] (Linked To: BLUE POINT SALT, S.A. DE C.V.; Linked To: DESARROLLOS BIO GAS, S.A. DE C.V.; Linked To: ECA ENERGETICOS, S.A. DE C.V.; Linked To: ORGANIC SALT, S.A. DE C.V.; Linked To: PETRO BIO, S. DE R.L. DE C.V...
Cherkaoui Jaouad, Imane; El Alloussi, Mustapha; Chafai El Alaoui, Siham; Laarabi, Fatima Zahra; Lyahyai, Jaber; Sefiani, Abdelaziz
2015-01-30
Amelogenesis imperfecta represents a group of developmental conditions, clinically and genetically heterogeneous, that affect the structure and clinical appearance of enamel. Amelogenesis imperfecta occurred as an isolated trait or as part of a genetic syndrome. Recently, disease-causing mutations in the FAM20A gene were identified, in families with an autosomal recessive syndrome associating amelogenesis imperfecta and gingival fibromatosis. We report, the first description of a Moroccan patient with amelogenesis imperfecta and gingival fibromatosis, in whom we performed Sanger sequencing of the entire coding sequence of FAM20A and identified a homozygous mutation in the FAM20A gene (c.34_35delCT), already reported in a family with this syndrome. Our finding confirms that the mutations of FAM20A gene are causative for amelogenesis imperfecta and gingival fibromatosis and underlines the recurrent character of the c.34_35delCT in two different ethnic groups.
Vigliocco, Gabriella; Kousta, Stavroula; Vinson, David; Andrews, Mark; Del Campo, Elena
2013-02-01
In Kousta, Vigliocco, Vinson, Andrews, and Del Campo (2011), we presented an embodied theory of semantic representation, which crucially included abstract concepts as internally embodied via affective states. Paivio (2013) took issue with our treatment of dual coding theory, our reliance on data from lexical decision, and our theoretical proposal. Here, we address these different issues and clarify how our findings offer a way to move forward in the investigation of how abstract concepts are represented. 2013 APA, all rights reserved
Revisions to the PETROS 4 Shell Response Code.
1984-02-01
change in the corresponding curvature tensor ’. DD(JLA) ftA cl &y()j * -. ,:"DD2(J,LA) DEL See ZETA 146,156 DELBAR 71 See ZETA 409 DELNOR See EQUIL2...Cleveland, OH 44135 1 AFML (LLN, Dr. Nicholas) 1 Bell Helicopter Textron Wright-Patterson AFB, OH 45433 ATTN: Mr. Nile Fischer P.O. Box 482 I ASD/ENFTV, Mr...2406A 1 Texas A&M University 1000 Western Avenue Dept Aerospace Eng West Lynn, MA 01905 ATTN: Dr. W. Haisler College Station, TX 77843 I Kaman Tempo
Development of the PARVMEC Code for Rapid Analysis of 3D MHD Equilibrium
NASA Astrophysics Data System (ADS)
Seal, Sudip; Hirshman, Steven; Cianciosa, Mark; Wingen, Andreas; Unterberg, Ezekiel; Wilcox, Robert; ORNL Collaboration
2015-11-01
The VMEC three-dimensional (3D) MHD equilibrium has been used extensively for designing stellarator experiments and analyzing experimental data in such strongly 3D systems. Recent applications of VMEC include 2D systems such as tokamaks (in particular, the D3D experiment), where application of very small (delB/B ~ 10-3) 3D resonant magnetic field perturbations render the underlying assumption of axisymmetry invalid. In order to facilitate the rapid analysis of such equilibria (for example, for reconstruction purposes), we have undertaken the task of parallelizing the VMEC code (PARVMEC) to produce a scalable and temporally rapidly convergent equilibrium code for use on parallel distributed memory platforms. The parallelization task naturally splits into three distinct parts 1) radial surfaces in the fixed-boundary part of the calculation; 2) two 2D angular meshes needed to compute the Green's function integrals over the plasma boundary for the free-boundary part of the code; and 3) block tridiagonal matrix needed to compute the full (3D) pre-conditioner near the final equilibrium state. Preliminary results show that scalability is achieved for tasks 1 and 3, with task 2 still nearing completion. The impact of this work on the rapid reconstruction of D3D plasmas using PARVMEC in the V3FIT code will be discussed. Work supported by U.S. DOE under Contract DE-AC05-00OR22725 with UT-Battelle, LLC.
Zhao, Dejian; Lin, Mingyan; Chen, Jian; Pedrosa, Erika; Hrabovsky, Anastasia; Fourcade, H. Matthew; Zheng, Deyou; Lachman, Herbert M.
2015-01-01
We are using induced pluripotent stem cell (iPSC) technology to study neuropsychiatric disorders associated with 22q11.2 microdeletions (del), the most common known schizophrenia (SZ)-associated genetic factor. Several genes in the region have been implicated; a promising candidate is DGCR8, which codes for a protein involved in microRNA (miRNA) biogenesis. We carried out miRNA expression profiling (miRNA-seq) on neurons generated from iPSCs derived from controls and SZ patients with 22q11.2 del. Using thresholds of p<0.01 for nominal significance and 1.5-fold differences in expression, 45 differentially expressed miRNAs were detected (13 lower in SZ and 32 higher). Of these, 6 were significantly down-regulated in patients after correcting for genome wide significance (FDR<0.05), including 4 miRNAs that map to the 22q11.2 del region. In addition, a nominally significant increase in the expression of several miRNAs was found in the 22q11.2 neurons that were previously found to be differentially expressed in autopsy samples and peripheral blood in SZ and autism spectrum disorders (e.g., miR-34, miR-4449, miR-146b-3p, and miR-23a-5p). Pathway and function analysis of predicted mRNA targets of the differentially expressed miRNAs showed enrichment for genes involved in neurological disease and psychological disorders for both up and down regulated miRNAs. Our findings suggest that: i. neurons with 22q11.2 del recapitulate the miRNA expression patterns expected of 22q11.2 haploinsufficiency, ii. differentially expressed miRNAs previously identified using autopsy samples and peripheral cells, both of which have significant methodological problems, are indeed disrupted in neuropsychiatric disorders and likely have an underlying genetic basis. PMID:26173148
Transitions to Peace: Effects on Internal Security Forces in Nicaragua, El Salvador and Guatemala
2008-12-01
and the National Guard, which operated in rural areas.”133 A National Intelligence Directorate supported the 60,000 strong security personnel in...Londoño, Juan Luis, Alejandro Gaviria, and Rodrigo Guerrero eds., Asalto al Desarrollo (Washington, D.C.: Inter-American Development Bank, 2000...Guerrero eds., Asalto al desarrollo . Washington, D.C.: Inter-American Development Bank, 2000. “Saca unimpressed with size of U.S. funding.” Latin
Densidad de desarrollo alta y baja en Puerto Rico
William A. Gould; Sebastian Martinuzzi; Olga M. Ramos Gonzalez
2008-01-01
Este mapa demuestra la distribución de terrenos de alta y baja densidad de desarrollo urbano en Puerto Rico (Martinuzzi et al. 2007). El mapa fue creado mediante el analisis de un mosaico de imagenes de satelite Landsat ETM+ de los años 2000 â 2003. La clasificacion no supervisada ISODATA (âIterative Self-Organizing Data Analysis Techniqueâ) (ERDAS 2003) fue utilizada...
Teamwork: relevance and interdependence of interprofessional education.
Tamayo, M; Besoaín-Saldaña, A; Aguirre, M; Leiva, J
2017-04-27
Determine the perception of university students regarding interprofessional and interdependent work between team members in their inclusion in primary care. Analytical cross-sectional study. The sampling had a probabilistic, stratified random type with 95% confidence and 5% margin of error. Seven-hundred and four students of Public Universities in Santiago (Chile) answered self-administered questionnaire. Ninety-seven point eight of students say that interprofessional work is important; 27.1% of them declare that their university did not seem to show that their study plans were important. The professionals listed as most important in teams are physicians and nurses. Spaces for development and institutional support are key elements to promote interprofessional work. If this competence can involve each academic unit in their different formative spaces there will be a significant contribution to said promotion. Teamwork is a pending task. Determinar la percepción de estudiantes universitarios respecto al trabajo interprofesional e interdependencia entre los miembros del equipo en su inserción en la atención primaria. Estudio de tipo analítico y transversal. El muestreo fue de tipo aleatorio, probabilístico estratificado con un 95% de confianza y un 5% de margen de error. Se utilizó un cuestionario auto-administrado en 704 estudiantes de Universidades del Estado en Santiago de Chile. Un 97,8% de los estudiantes opinan que el trabajo interprofesional es importante; un 27,1% de ellos declara que su universidad no le ha entregado importancia en sus planes de estudios. Los profesionales mencionados como más importantes en el equipo son los médicos y enfermeras. Espacios de desarrollo y respaldo institucional son elementos claves para promover el trabajo interprofesional. Que esta competencia logre involucrar a cada unidad académica en sus diferentes espacios formativos será un aporte significativo en aquello. Trabajo en equipo es una tarea pendiente.
DIABETES MELLITUS COMO FACTOR DE RIESGO DE DEMENCIA EN LA POBLACIÓN ADULTA MAYOR MEXICANA
Silvia, Mejía-Arango; Clemente, y Zúñiga-Gil
2012-01-01
Introduccion La diabetes mellitus y las demencias constituyen dos problemas crecientes de salud entre la población adulta mayor del mundo y en particular de los paises en desarrollo. Hacen falta estudios longitudinales sobre el papel de la diabetes como factor de riesgo para demencia. Objetivo Determinar el riesgo de demencia en sujetos Mexicanos con diabetes mellitus tipo 2. Materiales y Metodos Los sujetos diabéticos libres de demencia pertenecientes al Estudio Nacional de Salud y Envejecimiento en México fueron evaluados a los dos años de la línea de base. Se estudió el papel de los factores sociodemográficos, de otras comorbilidades y del tipo de tratamiento en la conversión a demencia. Resultados Durante la línea de base 749 sujetos (13.8%) tuvieron diabetes. El riesgo de desarrollar demencia en estos individuos fue el doble (RR, 2.08 IC 95%, 1.59–2.73). Se encontró un riesgo mayor en individuos de 80 años y más (RR 2.44 IC 95%, 1.46–4.08), en los hombres (RR, 2.25 IC 95%, 1.46–3.49) y en sujetos con nivel educativo menor de 7 años. El estar bajo tratamiento con insulina incrementó el riesgo de demencia (RR, 2.83, IC 95%, 1.58–5.06). Las otras comorbilidades que aumentaron el riesgo de demencia en los pacientes diabéticos fueron la hipertensión (RR, 2.75, IC 95%, 1.86–4.06) y la depresión (RR, 3.78, 95% IC 2.37–6.04). Conclusión Los sujetos con diabetes mellitus tienen un riesgo mayor de desarrollar demencia, La baja escolaridad y otras comorbilidades altamente prevalentes en la población Mexicana contribuyen a la asociación diabetes-demencia. PMID:21948010
Core, Cynthia; Hoff, Erika; Rumiche, Rosario; Señor, Melissa
2015-01-01
Purpose Vocabulary assessment holds promise as a way to identify young bilingual children at risk for language delay. This study compares 2 measures of vocabulary in a group of young Spanish–English bilingual children to a single-language measure used with monolingual children. Method Total vocabulary and conceptual vocabulary were used to measure mean vocabulary size and growth in 47 Spanish–English bilingually developing children from 22 to 30 months of age based on results from the MacArthur–Bates Communicative Development Inventory (CDI; Fenson et al., 1993) and the Inventario del Desarrollo de Habilidades Comunicativas (Jackson-Maldonado et al., 2003). Bilingual children’s scores of total vocabulary and conceptual vocabulary were compared with CDI scores for a control group of 56 monolingual children. Results The total vocabulary measure resulted in mean vocabulary scores and average rate of growth similar to monolingual growth, whereas conceptual vocabulary scores were significantly smaller and grew at a slower rate than total vocabulary scores. Total vocabulary identified the same proportion of bilingual children below the 25th percentile on monolingual norms as the CDI did for monolingual children. Conclusion These results support the use of total vocabulary as a means of assessing early language development in young bilingual Spanish–English speaking children. PMID:24023382
Core, Cynthia; Hoff, Erika; Rumiche, Rosario; Señor, Melissa
2013-10-01
Vocabulary assessment holds promise as a way to identify young bilingual children at risk for language delay. This study compares 2 measures of vocabulary in a group of young Spanish-English bilingual children to a single-language measure used with monolingual children. Total vocabulary and conceptual vocabulary were used to measure mean vocabulary size and growth in 47 Spanish-English bilingually developing children from 22 to 30 months of age based on results from the MacArthur-Bates Communicative Development Inventory (CDI; Fenson et al., 1993) and the Inventario del Desarrollo de Habilidades Comunicativas ( Jackson-Maldonado et al., 2003). Bilingual children's scores of total vocabulary and conceptual vocabulary were compared with CDI scores for a control group of 56 monolingual children. The total vocabulary measure resulted in mean vocabulary scores and average rate of growth similar to monolingual growth, whereas conceptual vocabulary scores were significantly smaller and grew at a slower rate than total vocabulary scores. Total vocabulary identified the same proportion of bilingual children below the 25th percentile on monolingual norms as the CDI did for monolingual children. These results support the use of total vocabulary as a means of assessing early language development in young bilingual Spanish-English speaking children.
NARSTO fine-particle and ozone assessments.
Hales, Jeremy M
2003-01-01
NARSTO, a tri-national North American consortium for applied tropospheric pollution research, conducts periodic assessments of air-pollution behavior to provide an information interface between the research community and individuals working in policy analysis and air-quality management. The first of these, entitled An Assessment of Tropospheric Ozone Pollution--A North American Perspective, appeared in late 2000 and has been circulated widely throughout the United States, Canada, Mexico, Europe, and South America. The second (currently) entitled NARSTO Assessment of the Atmospheric Science on Particulate Matter, is presently in its third-draft phase and is available for general review. A fourth draft, incorporating comments from the current review stage, will be submitted in January 2002 to a tri-national review committee composed of the Canadian Royal Society, the US National Academy of Sciences, and the Mexican Red de Desarrollo e Investigación de la Calidad del Aire en Grandes Ciudades. Finalization of the document will follow this review, which will conclude in July 2000. Publication is expected in December 2002. These two assessments contain substantial amounts of policy-relevant information, which is of interest to the research community as well as those working in policy analysis and air-quality management. This presentation provides a brief overview of features and findings of the two documents.
NASA Astrophysics Data System (ADS)
dos Santos Leão, Demetrius
2013-07-01
The aim of this article is to present part of the results obtained by the intervention made from the author's Master degree project, which consisted in the development of a set of Astronomy classes for first year of High School students from a private school in the "Distrito Federal", Brasilia, Brazil, making use of a didactical material called mini-planetarium (MP) as the main resource. Using Paulo Freire's contextualization and dialogicity ideas as a theoretical framework guided by these lessons, it was proposed to the students the assembly and application of that resource in a planetarium session. During the project, some subjects such as the apparent trajectory of stars through Brasilia's sky, the location of the cardinal points beginning from the Southern Cross constellation, the color of stars and the stars being seen from a particular place were emphasized. It was found that the students showed an improvement of their understanding about these subjects, as well as a significant excitement with the developed methodology. El objetivo de este trabajo es presentar algunos de los resultados obtenidos en el proyecto de la tesis de maestría del autor, que incluyó el desarrollo de algunas clases de Astronomía, con estudiantes del primer año del bachillerato de una escuela privada del Distrito Federal (Brasilia, Brasil), utilizando como materia prima didáctica el recurso llamado miniplanetario (MP). Utilizando como base teórica orientadora de esas clases las ideas de contextualización y dialógica de Paulo Freire, fue propuesto a los estudiantes el montaje y la utilización de este recurso en una función de planetario. Durante el proyecto, se enfatizaron asuntos tales como la trayectoria aparente de las estrellas del cielo de Brasilia, la ubicación de los puntos cardinales a partir de la constelación de la Cruz del Sur, los colores de las estrellas y las estrellas vistas desde una localidad determinada. Se constató que los estudiantes mostraron una mejora en la comprensión de estas cuestiones y demostraron un gran interés por esta metodología. O objetivo deste artigo é apresentar parte dos resultados obtidos com a intervenção feita como projeto da dissertação de mestrado do autor, que consistiu no desenvolvimento de um conjunto de aulas de Astronomia, com alunos do 1º Ano do Ensino Médio de uma escola da rede privada do Distrito Federal (Brasília, Brasil), empregando como recurso principal um material didático chamado miniplanetário (MP). Utilizando como pressuposto teórico norteador dessas aulas as ideias de contextualização e dialogicidade de Paulo Freire, foi proposta aos estudantes a montagem e utilização desse recurso em uma sessão de planetário. Durante o projeto, enfatizaram-se assuntos como a trajetória aparente das estrelas para o céu de Brasília, a localização dos pontos cardeais a partir da constelação do Cruzeiro do Sul, as cores das estrelas e as estrelas vistas de uma determinada localidade. Apurou-se que os alunos apresentaram melhoria na compreensão desses assuntos, bem como demonstraram expressiva empolgação com essa metodologia desenvolvida.
1979-12-01
Source: Ciencia , Tecnologia , y Desarrollo, Bogota, 2 (1>: 142, February- March, 1978 Many suggestions have been offered as to steps that could be taken...quite sharp. Studies prepared for COLCIENCIAS and FES, for example, have iden- tified the following problem areas ( Ciencia , Technologia, y Desarrollo...representing the official opinion or policy of the United States Government. F:, PREFACE This report analyzes (.& Y the characteristics and capabilities of the
Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome.
Huang, Zhiheng; Miao, Shijian; Wang, Lin; Zhang, Ping; Wu, Bingbing; Wu, Jie; Huang, Ying
2015-11-25
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease characterized by gastrointestinal hamartomatous polyps and mucocutaneous melanin spots. Germline mutation of the serine/threonine kinase 11 (STK11) gene are responsible for PJS. In this study, we investigated the clinical characteristics and molecular basis of the disease in Chinese children with PJS. Thirteen children diagnosed with PJS in our hospital were enrolled in this study from 2011 to 2015, and their clinical data on polyp characteristics, intussusceptions events, family histories, etc. were described. Genomic DNA was extracted from whole-blood samples from each subject, and the entire coding sequence of the STK11 gene was amplified by polymerase chain reaction and analyzed by direct sequencing. The median age at the onset of symptoms was 2 years and 4 months. To date, these children have undergone 40 endoscopy screenings, 17 laparotomies and 9 intussusceptions. Polyps were found in the stomach, duodenum, small bowel, colon and rectum, with large polyps found in 7 children. Mutations were found in eleven children, including seven novel mutations (c.481het_dupA, c.943_944het_delCCinsG, c.397het_delG, c.862 + 1G > G/A, c.348_349het_delGT, and c.803_804het_delGGinsC and c.121_139de l19insTT) and four previously reported mutations (c.658C > C/T, c.890G > G/A, c.1062 C > C/G, and c.290 + 1G > G/A). One PJS patient did not have any STK11 mutations. The polyps caused significant clinical consequences in children with PJS, and mutations of the STK11 gene are generally the cause of PJS in Chinese children. This study expands the spectrum of known STK11 gene mutations.
Hu, Liyan; Diez-Fernandez, Carmen; Rüfenacht, Véronique; Hismi, Burcu Öztürk; Ünal, Özlem; Soyucen, Erdogan; Çoker, Mahmut; Bayraktar, Bilge Tanyeri; Gunduz, Mehmet; Kiykim, Ertugrul; Olgac, Asburce; Pérez-Tur, Jordi; Rubio, Vicente; Häberle, Johannes
2014-12-01
Carbamoyl phosphate synthetase 1 (CPS1) deficiency due to CPS1 mutations is a rare autosomal-recessive urea cycle disorder causing hyperammonemia that can lead to death or severe neurological impairment. CPS1 catalyzes carbamoyl phosphate formation from ammonia, bicarbonate and two molecules of ATP, and requires the allosteric activator N-acetyl-L-glutamate. Clinical mutations occur in the entire CPS1 coding region, but mainly in single families, with little recurrence. We characterized here the only currently known recurrent CPS1 mutation, p.Val1013del, found in eleven unrelated patients of Turkish descent using recombinant His-tagged wild type or mutant CPS1 expressed in baculovirus/insect cell system. The global CPS1 reaction and the ATPase and ATP synthesis partial reactions that reflect, respectively, the bicarbonate and the carbamate phosphorylation steps, were assayed. We found that CPS1 wild type and V1013del mutant showed comparable expression levels and purity but the mutant CPS1 exhibited no significant residual activities. In the CPS1 structural model, V1013 belongs to a highly hydrophobic β-strand at the middle of the central β-sheet of the A subdomain of the carbamate phosphorylation domain and is close to the predicted carbamate tunnel that links both phosphorylation sites. Haplotype studies suggested that p.Val1013del is a founder mutation. In conclusion, the mutation p.V1013del inactivates CPS1 but does not render the enzyme grossly unstable or insoluble. Recurrence of this particular mutation in Turkish patients is likely due to a founder effect, which is consistent with the frequent consanguinity observed in the affected population. Copyright © 2014 Elsevier Inc. All rights reserved.
Li, Xiaoxin; Ma, Xiang; Tao, Yong
2007-06-07
To describe the clinical phenotype of X linked juvenile retinoschisis (XLRS) in 12 Chinese families with 11 different mutations in the XLRS1 (RS1) gene. Complete ophthalmic examinations were carried out in 29 affected males (12 probands), 38 heterozygous females carriers, and 100 controls. The coding regions of the RS1 gene that encodes retinoschisin were amplified by polymerase chain reaction and directly sequenced. Of the 29 male participants, 28 (96.6%) displayed typical foveal schisis. Eleven different RS1 mutations were identified in 12 families; four of these mutations, two frameshift mutations (26 del T of exon 1 and 488 del G of exon 5), and two missense mutations (Asp145His and Arg156Gly) of exon 5, had not been previously described. One non-disease-related polymorphism (NSP): 576C to T (Pro192Pro) change was also newly reported herein. We compared genotypes and observed more severe clinical features in families with the following mutations: frameshift mutation (26 del T) of exon 1, the splice donor site mutation (IVS1+2T to C),or Arg102Gln, Arg209His, and Arg213Gln mutations. Severe XLRS phenotypes are associated with the frameshift mutation 26 del T, splice donor site mutation (IVS1+2T to C), and Arg102Gln, Asp145His, Arg209His, and Arg213Gln mutations. The wide variability in the phenotype in Chinese patients with XLRS and different mutations in the RS1 gene is described. Identification of mutations in the RS1 gene and expanded information on clinical manifestations will facilitate early diagnosis, appropriate early therapy, and genetic counseling regarding the prognosis of XLRS.
Ma, Xiang; Tao, Yong
2007-01-01
Purpose To describe the clinical phenotype of X linked juvenile retinoschisis (XLRS) in 12 Chinese families with 11 different mutations in the XLRS1 (RS1) gene. Methods Complete ophthalmic examinations were carried out in 29 affected males (12 probands), 38 heterozygous females carriers, and 100 controls. The coding regions of the RS1 gene that encodes retinoschisin were amplified by polymerase chain reaction and directly sequenced. Results Of the 29 male participants, 28 (96.6%) displayed typical foveal schisis. Eleven different RS1 mutations were identified in 12 families; four of these mutations, two frameshift mutations (26 del T of exon 1 and 488 del G of exon 5), and two missense mutations (Asp145His and Arg156Gly) of exon 5, had not been previously described. One non-disease-related polymorphism (NSP): 576C to T (Pro192Pro) change was also newly reported herein. We compared genotypes and observed more severe clinical features in families with the following mutations: frameshift mutation (26 del T) of exon 1, the splice donor site mutation (IVS1+2T to C),or Arg102Gln, Arg209His, and Arg213Gln mutations. Conclusions Severe XLRS phenotypes are associated with the frameshift mutation 26 del T, splice donor site mutation (IVS1+2T to C), and Arg102Gln, Asp145His, Arg209His, and Arg213Gln mutations. The wide variability in the phenotype in Chinese patients with XLRS and different mutations in the RS1 gene is described. Identification of mutations in the RS1 gene and expanded information on clinical manifestations will facilitate early diagnosis, appropriate early therapy, and genetic counseling regarding the prognosis of XLRS. PMID:17615541
Pérez Benítez, Carlos I.; Vicente, Benjamin; Zlotnick, Caron; Kohn, Robert; Johnson, Jennifer; Valdivia, Sandra; Rioseco, Pedro
2010-01-01
RESUMEN Durante la década de 1990 en los Estados Unidos (EU), el conocimiento sobre el trastorno de estrés post-traumático (TEPT) evolucionó de estudios específicos en un principio, sobre veteranos de guerra y sobre víctimas de desastres, a estudios epidemiológicos más tarde, sin embargo, la epidemiología del TEPT en países en desarrollo ha sido un área poco estudiada hasta ahora. Los expertos en el área de trauma han propuesto que los sucesos traumáticos que ocurren en la niñez son más perjudiciales para la salud mental que aquellos que ocurren más tarde en la vida. Este trabajo revisa los resultados de un estudio epidemiológico llevado a cabo en Chile. Específicamente, se revisan los resultados sobre las tasas de prevalencia del TEPT, traumas asociados más frecuentemente con él, así como la comorbilidad de este trastorno con otros trastornos psiquiátricos a lo largo de la vida. Igualmente se analizaron las diferencias del TEPT en cada sexo, así como la exposición a traumas en una muestra representativa de chilenos. Además se comparó la prevalencia de trastornos psiquiátricos en personas que sufrieron su primer trauma durante la niñez, durante la edad adulta, o que no reportaron traumas durante su vida. En estos estudios epidemiológicos se usaron módulos del TEPT y trastorno de personalidad antisocial (TPA) de la entrevista diagnóstica siguiendo los criterios del DSM-III-R (DIS–III-R). Para evaluar el resto de los trastornos psiquiátricos se usó la Entrevista Diagnóstica Internacional Compuesta (CIDI). Estos instrumentos fueron administrados en tres ciudades chilenas a 2390 personas mayores de 15 años. Para estimar los errores estándares (EE) debido al diseño de la muestra y a la necesidad de ajuste se usó el método Taylor de linearización seriada. También se usó un análisis de regresión logística para examinar la relación entre el TEPT, los factores demográficos de riesgo y el tipo de trauma. Además se utilizó la regresión logística multivariada para evaluar si la relación entre el TEPT y el sexo pudiera ser explicada por medio de otros factores de riesgo, así como para calcular las tasas y la oportunidad relativa (razón de productos cruzados) de trastornos psiquiátricos a lo largo de la vida. El primer análisis arrojó que la prevalencia de TEPT a lo largo de la vida fue de 4.4% (2.5% para hombres y 6.2% para mujeres). De los hechos traumáticos reportados, la violación sexual tuvo una correlación más alta con el TEPT que los demás hechos traumáticos. Las mujeres tuvieron más probabilidades de experimentar TEPT que los hombres, después de controlar la variable asalto violento. El segundo análisis evidenció que los que habían sufrido traumas a lo largo de la vida tuvieron mayor probabilidad de tener un trastorno psiquiátrico en comparación con aquellos que no reportaron traumas. También se encontró que los que sufrieron su primer trauma durante la infancia tuvieron más probabilidad de desarrollar trastornos de pánico a lo largo de la vida que aquellos que sufrieron su primer trauma en la edad adulta, independientemente del número de traumas que sufrieron y de las diferencias demográficas. Aunque Chile tiene un contexto histórico-cultural y una economía diferente a otros países en los que se ha estudiado anteriormente la epidemiología del TEPT, el presente estudio reflejó tendencias similares a las reportadas en estudios previos. Los hallazgos expuestos enfatizan la importancia de investigar la prevalencia del TEPT, los patrones de comorbilidad del TEPT y las diferencias de sexo en la prevalencia del TEPT en diferentes países. También estos resultados sugieren que los sucesos traumáticos en la infancia (y no en la adultez) pueden estar relacionados con la ocurrencia de trastornos psiquiátricos específicos. PMID:21113425
Quality management systems for fruit fly (Diptera: Tephritidae) sterile insect technique
DOE Office of Scientific and Technical Information (OSTI.GOV)
Caceres, C.; Robinson, A.; McInnis, D.
The papers presented in this issue are focused on developing and validating procedures to improve the overall quality of sterile fruit flies for use in area-wide integrated pest management (AW-IPM) programs with a sterile insect technique (SIT) component. The group was coordinated and partially funded by the Joint FAO/IAEA Programme of Nuclear Techniques in Food and Agriculture, International Atomic Energy Agency, Vienna, Austria, under a five-year Coordinated Research Project (CRP) on 'Quality Assurance in Mass-Reared and Released Fruit Flies for Use in SIT Programmes'. Participants in the CRP from 16 countries came from both basic and applied fields of expertisemore » to ensure that appropriate and relevant procedures were developed. A variety of studies was undertaken to develop protocols to assess strain compatibility and to improve colonization procedures and strain management. Specific studies addressed issues related to insect nutrition, irradiation protocols, field dispersal and survival, field cage behavior assessments, and enhancement of mating competitiveness. The main objective was to increase the efficiency of operational fruit fly programs using sterile insects and to reduce their cost. Many of the protocols developed or improved during the CRP will be incorporated into the international quality control manual for sterile tephritid fruit flies, standardizing key components of the production, sterilization, shipment, handling, and release of sterile insects. (author) [Spanish] Los articulos presentados en este numero se enfocan en el desarrollo y la validacion de procedimientos para mejorar la calidad total de moscas de las frutas esteriles para su uso en programas de manejo integrado de plagas en donde la tecnica del insecto esteril (TIE) es uno de los componentes clave. El grupo fue coordinado y parcialmente financiado por la Division Conjunta de Tecnicas Nucleares para la Alimentacion y la Agricultura de la FAO/OIEA, Viena, Austria, por un periodo de cinco anos bajo el proyecto de Investigacion Coordinada (PIC) sobre 'el Aseguramiento de la Calidad de Moscas de las Frutas Criadas y Liberadas para su Uso en Programas de TIE'. Los participantes en el PIC representan 16 paises con experiencia en campos de investigacion basica y aplicada. Para asegurar que los procedimientos desarrollados fueran apropiados y pertinentes, se realizaron una variedad de estudios para el desarrollo de protocolos para evaluar la compatibilidad y para mejorar los procedimientos de colonizacion y manejo de cepas salvajes. Estudios especificos trataron asuntos relacionados con la nutricion de insectos, los protocolos de irradiacion, la dispersion y supervivencia en el campo, evaluacion del comportamiento en jaulas de campo, y el mejoramiento de la competitividad sexual. Los objetivos fundamentales fueron el aumentar la eficiencia y reducir los costos de los programas operacionales de control de moscas de las frutas donde TIE es utilizada. Muchos de los protocolos desarrollados o mejorados durante el PIC seran incorporados en el Manual Internacional de Control de Calidad para Moscas Estriles de la familia Tephritidae, para estandarizar componentes claves como la produccion, esterilizacion, envio, manejo y liberacion de insectos esteriles. (author)« less
NASA Astrophysics Data System (ADS)
Ferrero, A. M.; Migliazza, M.; Roncella, R.; Segalini, A.
2011-02-01
The town of Campione del Garda (located on the west coast of Lake Garda) and its access road have been historically subject to rockfall phenomena with risk for public security in several areas of the coast. This paper presents a study devoted to the determination of risk for coastal cliffs and the design of mitigation measures. Our study was based on statistical rockfall analysis performed with a commercial code and on stability analysis of rock slopes based on the key block method. Hazard from block kinematics and rock-slope failure are coupled by applying the Rockfall Hazard Assessment Procedure (RHAP). Because of the huge dimensions of the slope, its morphology and the geostructural survey were particularly complicated and demanding. For these reasons, noncontact measurement methods, based on aerial photogrammetry by helicopter, were adopted. A special software program, developed by the authors, was applied for discontinuity identification and for their orientation measurements. The potentially of aerial photogrammetic survey in rock mechanic application and its improvement in the rock mass knowledge is analysed in the article.
Clinical and genetic investigation of families with type II Waardenburg syndrome.
Chen, Yong; Yang, Fuwei; Zheng, Hexin; Zhou, Jianda; Zhu, Ganghua; Hu, Peng; Wu, Weijing
2016-03-01
The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of paired box 3 (PAX3), microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing. The heterozygous mutation, c.649_651delAGA in exon 7 of the MITF gene was detected in the proband and all patients of pedigree 1; however, no pathological mutation of the relevant genes (MITF, SNAI2, SOX10 or PAX3) was detected in pedigrees 2 and 3. The heterozygous mutation c.649_651delAGA in exon 7 of the MITF gene is therefore considered the disease‑causing mutation in pedigree 1. However, there are novel disease‑causing genes in Waardenburg syndrome type II, which require further research.
When Did the Swahili Become Maritime?
Fleisher, Jeffrey; Lane, Paul; LaViolette, Adria; Horton, Mark; Pollard, Edward; Quintana Morales, Eréndira; Vernet, Thomas; Christie, Annalisa; Wynne-Jones, Stephanie
2015-01-01
In this article, we examine an assumption about the historic Swahili of the eastern African coast: that they were a maritime society from their beginnings in the first millennium C.E. Based on historical and archaeological data, we suggest that, despite their proximity to and use of the sea, the level of maritimity of Swahili society increased greatly over time and was only fully realized in the early second millennium C.E. Drawing on recent theorizing from other areas of the world about maritimity as well as research on the Swahili, we discuss three arenas that distinguish first- and second-millennium coastal society in terms of their maritime orientation. These are variability and discontinuity in settlement location and permanence; evidence of increased engagement with the sea through fishing and sailing technology; and specialized architectural developments involving port facilities, mosques, and houses. The implications of this study are that we must move beyond coastal location in determining maritimity; consider how the sea and its products were part of social life; and assess whether the marine environment actively influences and is influenced by broader patterns of sociocultural organization, practice, and belief within Swahili and other societies. [maritime, fishing and sailing, long-distance trade, Swahili, eastern Africa] RESUMEN En este artículo, evaluamos la hipótesis de que los pueblos Swahili de la costa oriental africana fueron una sociedad marítima a partir del primer milenio E.C. Basados en información histórica y arqueológica, proponemos que la asociación de la sociedad Swahili con el mar incrementó considerablemente con el tiempo y se manifestó de una forma significativa particularmente desde principios del segundo milenio E.C. Utilizando teorías recientes sobre maritimidad en otras áreas del mundo, así como investigaciones sobre los Swahili, discutimos tres temas que marcan las diferencias del nivel de orientación marítima de esta sociedad costera entre el primer y segundo milenio. Éstas son la variabilidad y discontinuidad en la localización y permanencia de los asentamientos; evidencia de una conexión mayor con el mar a través de la tecnología de pesca y navegación; y desarrollos arquitectónicos especializados que incluyen instalaciones portuarias, mezquitas, y casas. Las implicaciones de este estudio indican que debemos considerar otros aspectos de una sociedad aparte de su localización costera para determinar su maritimidad. Hay que considerar cómo el mar y sus productos son parte de la vida social y evaluar si existe una influencia recíproca entre el ambiente marítimo y los patrones de organización sociocultural, las prácticas, y las creencias de los Swahili y otras sociedades. [marítimo, pesca y navegación, comercio a larga distancia, Swahili, África Oriental] PMID:25821235
When Did the Swahili Become Maritime?
Fleisher, Jeffrey; Lane, Paul; LaViolette, Adria; Horton, Mark; Pollard, Edward; Quintana Morales, Eréndira; Vernet, Thomas; Christie, Annalisa; Wynne-Jones, Stephanie
2015-03-01
In this article, we examine an assumption about the historic Swahili of the eastern African coast: that they were a maritime society from their beginnings in the first millennium C.E. Based on historical and archaeological data, we suggest that, despite their proximity to and use of the sea, the level of maritimity of Swahili society increased greatly over time and was only fully realized in the early second millennium C.E. Drawing on recent theorizing from other areas of the world about maritimity as well as research on the Swahili, we discuss three arenas that distinguish first- and second-millennium coastal society in terms of their maritime orientation. These are variability and discontinuity in settlement location and permanence; evidence of increased engagement with the sea through fishing and sailing technology; and specialized architectural developments involving port facilities, mosques, and houses. The implications of this study are that we must move beyond coastal location in determining maritimity; consider how the sea and its products were part of social life; and assess whether the marine environment actively influences and is influenced by broader patterns of sociocultural organization, practice, and belief within Swahili and other societies. [ maritime, fishing and sailing, long-distance trade, Swahili, eastern Africa ]. En este artículo, evaluamos la hipótesis de que los pueblos Swahili de la costa oriental africana fueron una sociedad marítima a partir del primer milenio E.C. Basados en información histórica y arqueológica, proponemos que la asociación de la sociedad Swahili con el mar incrementó considerablemente con el tiempo y se manifestó de una forma significativa particularmente desde principios del segundo milenio E.C. Utilizando teorías recientes sobre maritimidad en otras áreas del mundo, así como investigaciones sobre los Swahili, discutimos tres temas que marcan las diferencias del nivel de orientación marítima de esta sociedad costera entre el primer y segundo milenio. Éstas son la variabilidad y discontinuidad en la localización y permanencia de los asentamientos; evidencia de una conexión mayor con el mar a través de la tecnología de pesca y navegación; y desarrollos arquitectónicos especializados que incluyen instalaciones portuarias, mezquitas, y casas. Las implicaciones de este estudio indican que debemos considerar otros aspectos de una sociedad aparte de su localización costera para determinar su maritimidad. Hay que considerar cómo el mar y sus productos son parte de la vida social y evaluar si existe una influencia recíproca entre el ambiente marítimo y los patrones de organización sociocultural, las prácticas, y las creencias de los Swahili y otras sociedades. [ marítimo, pesca y navegación, comercio a larga distancia, Swahili, África Oriental ].
Development of Numerical Tools for the Investigation of Plasma Detachment from Magnetic Nozzles
NASA Technical Reports Server (NTRS)
Sankaran, Kamesh; Polzin, Kurt A.
2007-01-01
A multidimensional numerical simulation framework aimed at investigating the process of plasma detachment from a magnetic nozzle is introduced. An existing numerical code based on a magnetohydrodynamic formulation of the plasma flow equations that accounts for various dispersive and dissipative processes in plasmas was significantly enhanced to allow for the modeling of axisymmetric domains containing three.dimensiunai momentum and magnetic flux vectors. A separate magnetostatic solver was used to simulate the applied magnetic field topologies found in various nozzle experiments. Numerical results from a magnetic diffusion test problem in which all three components of the magnetic field were present exhibit excellent quantitative agreement with the analytical solution, and the lack of numerical instabilities due to fluctuations in the value of del(raised dot)B indicate that the conservative MHD framework with dissipative effects is well-suited for multi-dimensional analysis of magnetic nozzles. Further studies will focus on modeling literature experiments both for the purpose of code validation and to extract physical insight regarding the mechanisms driving detachment.
Aliferis, K; Hellé, S; Gyapay, G; Duchatelet, S; Stoetzel, C; Mandel, J L; Dollfus, H
2012-03-01
Early onset retinal degeneration associated with obesity can present a diagnostic challenge in paediatric ophthalmology practice. Clinical overlap between Bardet-Biedl syndrome (BBS) and Alström syndrome has been described, although the two entities are genetically distinct. To date, 16 genes are known to be associated with BBS (BBS1-16) and only one gene has been identified for Alström syndrome (ALMS1). In collaboration with the French National Center for Sequencing (CNS, Evry), all coding exons and flanking introns were sequenced for 27 ciliopathy genes (BBS1-12, MGC1203, TTC21b, AHI1, NPHP2-8 (NPHP6=BBS14), MKS1(BBS13), MKS3, C2ORF86, SDCCAG8, ALMS1) in 96 patients referred with a clinical diagnosis of BBS. ALMS1 gene analysis included sequencing of all coding exons. BBS known gene mutations were found in 44 patients (36 with two mutations and 8 heterozygous). ALMS1 mutations were found in four cases. The rate of ALMS1 mutations among patients suspected of having BBS was 4.2%. Clinically, all four patients presented early-onset severe retinal degeneration with congenital nystagmus associated with obesity. The difficult early differential diagnosis between the two syndromes is outlined. One mutation had already been reported (c.11310delAGAG/p.R3770fsX) and three were novel (c.2293C > T/p.Q765X, c.6823insA/p.R2275fsX, c.9046delA/p.N3016fsX). Ciliopathy genes sequencing can be very helpful in providing a timely diagnosis in this group of patients, hence appropriate genetic counselling for families and adequate medical follow-up for affected children.
Dias, Miguel de Sousa; Hernan, Imma; Pascual, Beatriz; Borràs, Emma; Mañé, Begoña; Gamundi, Maria José
2013-01-01
Purpose To devise an effective method for detecting mutations in 12 genes (CA4, CRX, IMPDH1, NR2E3, RP9, PRPF3, PRPF8, PRPF31, PRPH2, RHO, RP1, and TOPORS) commonly associated with autosomal dominant retinitis pigmentosa (adRP) that account for more than 95% of known mutations. Methods We used long-range PCR (LR-PCR) amplification and next-generation sequencing (NGS) performed in a GS Junior 454 benchtop sequencing platform. Twenty LR-PCR fragments, between 3,000 and 10,000 bp, containing all coding exons and flanking regions of the 12 genes, were obtained from DNA samples of patients with adRP. Sequencing libraries were prepared with an enzymatic (Fragmentase technology) method. Results Complete coverage of the coding and flanking sequences of the 12 genes assayed was obtained with NGS, with an average sequence depth of 380× (ranging from 128× to 1,077×). Five previous known mutations in the adRP genes were detected with a sequence variation percentage between 35% and 65%. We also performed a parallel sequence analysis of four samples, three of them new patients with index adRP, in which two novel mutations were detected in RHO (p.Asn73del) and PRPF31 (p.Ile109del). Conclusions The results demonstrate that genomic LR-PCR amplification together with NGS is an effective method for analyzing individual patient samples for mutations in a monogenic heterogeneous disease such as adRP. This approach proved effective for the parallel analysis of adRP and has been introduced as routine. Additionally, this approach could be extended to other heterogeneous genetic diseases. PMID:23559859
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
Yan, Denise; Ouyang, Xiaomei; Patterson, D Michael; Du, Li Lin; Jacobson, Samuel G; Liu, Xue-Zhong
2009-12-01
Usher syndrome type II (USH2) is an autosomal recessive disorder characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa (RP). To identify novel mutations and determine the frequency of USH2A mutations as a cause of USH2, we have carried out mutation screening of all 72 coding exons and exon-intron splice sites of the USH2A gene. A total of 20 USH2 American probands of European descent were analyzed using single strand conformational polymorphism (SSCP) and direct sequencing methods. Ten different USH2A mutations were identified in 55% of the probands, five of which were novel mutations. The detected mutations include three missense, three frameshifts and four nonsense mutations, with c.2299delG/p.E767fs mutation, accounting for 38.9% of the pathological alleles. Two cases were homozygotes, two cases were compound heterozygotes and one case had complex allele with three variants. In seven probands, only one USH2A mutation was detected and no pathological mutation was found in the remaining eight individuals. Altogether, our data support the fact that c.2299delG/p.E767fs is indeed the most common USH2A mutation found in USH2 patients of European Caucasian background. Thus, if screening for mutations in USH2A is considered, it is reasonable to screen for the c.2299delG mutation first.
Mutation analysis of 12 genes in Chinese families with congenital cataracts
Sun, Wenmin; Xiao, Xueshan; Li, Shiqiang; Guo, Xiangming
2011-01-01
Purpose To identify mutations in 12 genes in Chinese families with congenital cataracts. Methods Twenty five families with congenital cataracts involved in this study. The coding exons and adjacent intronic regions of 12 genes were analyzed by cycle sequencing, including the alpha A crystallin (CRYAA), alpha B crystallin (CRYAB), beta A1 crystallin (CRYBA1), beta A4 crystallin (CRYBA4), beta B1 crystallin (CRYBB1), beta B2 crystallin (CRYBB2), beta B3 crystallin (CRYBB3), gamma C crystallin (CRYGC), gamma D crystallin (CRYGD), gamma S crystallin (CRYGS), alpha 3 gap junction protein (GJA3), and alpha 8 gap junction protein (GJA8) genes. Novel variants were further evaluated in 96 normal controls. Results Nine mutations were identified in 10 of the 25 families (40%), including 5 novel (c.350_352delGCT in CRYAA, c.205C>T in CRYAB, c.106G>C in CRYGD, c.77A>G in CRYGS, c.1143_1165del23 in GJA3) and 4 known (c.292G>A in CRYAA; c.215+1G>A and c.272_274delGAG in CRYBA1, and c.176C>T in GJA3). All novel mutations were predicted to be pathogenic and were not present in 96 controls. Conclusions Mutations in the 12 genes encoding crystallins and connexins were responsible for 40% Chinese families with congenital cataracts. Our results enriched our knowledge on the molecular basis of congenital cataracts in Chinese population. PMID:21866213
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.
Wang, Juan; Li, Shiqiang; Xiao, Xueshan; Wang, Panfeng; Guo, Xiangming; Zhang, Qingjiong
2010-06-22
To detect paired box gene 3 (PAX3) mutations and associated phenotypes in Chinese patients with Waardenburg syndrome type 1 (WS1). Five unrelated families with suspected WS1 were selected from our Genomic DNA Repository for Hereditary Eye Diseases. The coding and adjacent intronic regions of PAX3 were amplified by polymerase chain reaction and the amplicons were then analyzed by cycle sequencing. Variations detected were further evaluated in available family members as well as one hundred controls with heteroduplex-single strand conformational polymorphism (heteroduplex-SSCP) analysis and/or clone sequencing. Three novel and two known mutations in PAX3 were detected in five patients, respectively: c.567_586+17del (p.Asp189_Gln505delinsGluGlyGlyAlaLeuAlaGly), c.456_459dupTTCC (p.Ile154PhefsX162), c.795_800delCTGGTT (p.Trp266_Phe267del), c.799T>A (p.Phe267Ile), and c.667C>T (p.Arg223X). Two novel mutations proved to be de novo as their parents did not carry the mutations. All five patients with PAX3 mutations had dystopia canthorum and different iris color and fundi between their two eyes. However, none had white forelock, skin hypopigmentation, and deafness. Our findings expand the frequency and spectrum of PAX3 mutations and ethnic-related phenotypes in Chinese patients with WS1. De novo mutations in PAX3 have not been reported before.
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
Wang, Juan; Li, Shiqiang; Xiao, Xueshan; Wang, Panfeng; Guo, Xiangming
2010-01-01
Purpose To detect paired box gene 3 (PAX3) mutations and associated phenotypes in Chinese patients with Waardenburg syndrome type 1 (WS1). Methods Five unrelated families with suspected WS1 were selected from our Genomic DNA Repository for Hereditary Eye Diseases. The coding and adjacent intronic regions of PAX3 were amplified by polymerase chain reaction and the amplicons were then analyzed by cycle sequencing. Variations detected were further evaluated in available family members as well as one hundred controls with heteroduplex-single strand conformational polymorphism (heteroduplex-SSCP) analysis and/or clone sequencing. Results Three novel and two known mutations in PAX3 were detected in five patients, respectively: c.567_586+17del (p.Asp189_Gln505delinsGluGlyGlyAlaLeuAlaGly), c.456_459dupTTCC (p.Ile154PhefsX162), c.795_800delCTGGTT (p.Trp266_Phe267del), c.799T>A (p.Phe267Ile), and c.667C>T (p.Arg223X). Two novel mutations proved to be de novo as their parents did not carry the mutations. All five patients with PAX3 mutations had dystopia canthorum and different iris color and fundi between their two eyes. However, none had white forelock, skin hypopigmentation, and deafness. Conclusions Our findings expand the frequency and spectrum of PAX3 mutations and ethnic-related phenotypes in Chinese patients with WS1. De novo mutations in PAX3 have not been reported before. PMID:20664692
NASA Astrophysics Data System (ADS)
Espinosa Rodriguez, Tulia
Ionic liquids are molten salts which are liquid at room temperature or at low temperatures and present a unique combination of properties. In the present work, we focus on their use as lubricants in complex tribological problems such as the lubrication of metals that slide against themselves, the development of water based lubricants and new self-lubricated surfaces. When it is difficult to reduce friction and wear by lubrication, as in the case of magnesium alloys, ionic liquids are studied as protective coatings precursors. Surface interactions and corrosion processes with protic and aprotic ionic liquids on copper and steel have been determined in order to develop new lubricants and lubricant additives. In the copper/copper contact, all ionic liquids present better tribological performance than the polyalphaolefin synthetic oil, except for the oleate derivative. New protic ionic liquids are not only exceptional lubricants of the steel/sapphire contact as neat lubricants, but when they are used as additives in water, the formation of a boundary layer after water evaporation occurs, thus reducing friction and wear. The formation of this boundary layer on steel under static conditions is described in order to prevent the running-in period with respect to the solution of ionic liquid in water. The best lubricating behaviour for the copper/copper contact and also for the steel/sapphire contact is obtained for the diprotic ammonium dianionic adipate, that has two carboxylate groups in its anion. A higher polarity and a higher number of ammonium protons, carboxylate and hydroxyl groups would give rise to stronger surface interaction with the metal surfaces and more stable boundary films. The tribological performance of new aprotic thiazolium ionic liquids and commercial aprotic imidazolium ionic liquids has been compared as lubricants of the steel/sapphire contact, obtaining the best results for the bis(trifluoromethanesulfonyl)imide derivatives, and also preventing tribocorrosion processes. The formation of a coating layer on magnesium alloys from phosphonate imidazolium ionic liquids by immersion and by chronoamperometry has been described. The new coatings reduce the abrasive wear in the magnesium-aluminium alloy but they are not effective in the magnesium-zinc alloy, which prevent the formation of continuous coatings. Los liquidos ionicos son sales liquidas a temperatura ambiente o bajas temperaturas que presentan excelentes propiedades fisico-quimicas. En el presente trabajo se estudian como lubricantes en problemas tribologicos complejos como la lubricacion de metales contra si mismos, el desarrollo de lubricantes base agua y de nuevas superficies autolubricadas. Cuando no es posible reducir la friccion y desgaste mediante lubricacion, como en las aleaciones de magnesio, los liquidos ionicos se han estudiado como precursores de recubrimientos protectores. Se han determinado las interacciones superficiales y los procesos de corrosion sobre cobre y sobre acero con diferentes liquidos ionicos proticos y aproticos para desarrollar nuevos lubricantes y aditivos. En el contacto cobre/cobre, excepto el liquido ionico protico derivado del oleato, todos los liquidos ionicos estudiados presentan mejor comportamiento tribologico que el lubricante comercial Polialfaolefina 6. En el contacto acero/zafiro, los nuevos liquidos ionicos proticos son buenos lubricantes cuando se utilizan en estado puro, y, como aditivos en agua, generan peliculas adsorbidas sobre la superficie del metal reduciendo la friccion y el desgaste tras la evaporacion del agua. Para evitar el periodo de alta friccion inicial en presencia de agua, se han generado peliculas superficiales de liquido ionico sobre el acero en condiciones estaticas. El mejor comportamiento lubricante tanto en el contacto cobre/cobre como en el contacto acero/zafiro se obtiene para el liquido ionico protico derivado del anion adipato, con dos grupos carboxilicos. Las interacciones de los grupos hidroxilo y carboxilato con la superficie metalica y los puentes de hidrogeno entre cation y anion podrian ser los responsables del buen comportamiento tribologico. Se ha comparado el comportamiento tribologico de los liquidos ionicos aproticos derivados de imidazolio y tiazolio como lubricantes del contacto acero/zafiro, obteniendose los mejores resultados para los derivados del anion bis(trifluorometanosulfonil)imida, que evita a su vez los procesos de tribocorrosion. Se han generado recubrimientos sobre aleaciones de magnesio con tres liquidos ionicos derivados del anion fosfonato, tanto por inmersion como mediante cronoamperometria. Los nuevos recubrimientos reducen el dano superficial por deslizamiento o abrasion de la aleacion magnesio-aluminio pero no de la aleacion magnesio-cinc, que impide la formacion de recubrimientos continuos.
Posukh, Olga L.; Teryutin, Fedor M.; Solovyev, Aisen V.; Klarov, Leonid A.; Romanov, Georgii P.; Gotovtsev, Nyurgun N.; Kozhevnikov, Andrey A.; Kirillina, Elena V.; Sidorova, Oksana G.; Vasilyevа, Lena M.; Fedotova, Elvira E.; Morozov, Igor V.; Bondar, Alexander A.; Solovyevа, Natalya A.; Kononova, Sardana K.; Rafailov, Adyum M.; Sazonov, Nikolay N.; Alekseev, Anatoliy N.; Tomsky, Mikhail I.; Dzhemileva, Lilya U.; Khusnutdinova, Elza K.; Fedorova, Sardana A.
2016-01-01
Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene. Spectrum and allelic frequencies of the GJB2 gene vary significantly among different ethnic groups worldwide. Until now, the spectrum and frequency of the pathogenic variants in exon 1, exon 2 and the flanking intronic regions of the GJB2 gene have not been described thoroughly in the Sakha Republic (Yakutia), which is located in a subarctic region in Russia. The complete sequencing of the non-coding and coding regions of the GJB2 gene was performed in 393 patients with HI (Yakuts—296, Russians—51, mixed and other ethnicities—46) and in 187 normal hearing individuals of Yakut (n = 107) and Russian (n = 80) populations. In the total sample (n = 580), we revealed 12 allelic variants of the GJB2 gene, 8 of which were recessive pathogenic variants. Ten genotypes with biallelic recessive pathogenic variants in the GJB2 gene (in a homozygous or a compound heterozygous state) were found in 192 out of 393 patients (48.85%). We found that the most frequent GJB2 pathogenic variant in the Yakut patients was c.-23+1G>A (51.82%) and that the second most frequent was c.109G>A (2.37%), followed by c.35delG (1.64%). Pathogenic variants с.35delG (22.34%), c.-23+1G>A (5.31%), and c.313_326del14 (2.12%) were found to be the most frequent among the Russian patients. The carrier frequencies of the c.-23+1G>A and с.109G>A pathogenic variants in the Yakut control group were 10.20% and 2.80%, respectively. The carrier frequencies of с.35delG and c.101T>C were identical (2.5%) in the Russian control group. We found that the contribution of the GJB2 gene pathogenic variants in HI in the population of the Sakha Republic (48.85%) was the highest among all of the previously studied regions of Asia. We suggest that extensive accumulation of the c.-23+1G>A pathogenic variant in the indigenous Yakut population (92.20% of all mutant chromosomes in patients) and an extremely high (10.20%) carrier frequency in the control group may indicate a possible selective advantage for the c.-23+1G>A carriers living in subarctic climate. PMID:27224056
Salamanca Duque, Luisa Matilde; Naranjo Aristizábal, María Mercedes; Castro Castro, Ángel Laban; Calle Jaramillo, Guillermo Andrés
2016-01-01
Developmental coordination disorder (DCD) in childhood is an important public health problem, which has important implications for different spheres of development: motor, cognitive, psychosocial and emotional. Therefore, the presence of comorbidity is common, along with other disorders in child development. This article presents a study that determines the association between DCD characteristics with attention deficit and hyperactivity disorder (ADHD) symptoms. To determine the association between DCD characteristics and ADHD symptoms in the city of Manizales, Colombia. Cross-sectional, descriptive and associative study, in a sample of 140 children aged 6-12, randomised in public and private institutions. A structured interview was conducted, along with the questionnaires MINIKID and Cuestionario para Trastorno del Desarrollo de la Coordinación (CTDC). A descriptive univariate analysis was performed on the the sociodemographic characteristics, as well as association tests with χ(2) test, and dependence level with φ coefficient. A statistically significant association was found between the CTDC characteristics with ADHD symptoms (φ=.452; P=.001). An association was found in the studied population between the CTDC characteristics and ADHD symptoms, indicating that children with difficulties in motor performance may also have attention difficulties and hyperactivity. Copyright © 2015 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.
Barrios, Liliana Mondragón
2012-01-01
El propósito de este trabajo es presentar el impacto y la integración que los conocimientos adquiridos en el Programa Internacional de Formación en Ética de la Investigación Biomédica y Psicosocial de la Universidad de Chile han tenido en mi experiencia profesional, en el ámbito de la investigación psicosocial en un Instituto de Salud de México. Para este objetivo, expondré tres áreas en las cuales se ha podido evidenciar tal impacto: trabajo en los comités de ética, desarrollo de programas de académicos en bioética e investigación y publicación sobre ética y bioética. El motivo que me llevó a incursionar en el Programa fue que su enseñanza vincula la investigación psicosocial con la ética y la bioética, lo cual me permitió dirigir este tipo de reflexión hacia problemas como violencia, suicidio, adicciones, depresión y salud mental, y a nuevos campos como los estudios comunitarios, con poblaciones en riesgo o vulnerables, en los cuales las diversas implicaciones son difíciles de indagar.
Barrios, Liliana Mondragón
2012-01-01
El propósito de este trabajo es presentar el impacto y la integración que los conocimientos adquiridos en el Programa Internacional de Formación en Ética de la Investigación Biomédica y Psicosocial de la Universidad de Chile han tenido en mi experiencia profesional, en el ámbito de la investigación psicosocial en un Instituto de Salud de México. Para este objetivo, expondré tres áreas en las cuales se ha podido evidenciar tal impacto: trabajo en los comités de ética, desarrollo de programas de académicos en bioética e investigación y publicación sobre ética y bioética. El motivo que me llevó a incursionar en el Programa fue que su enseñanza vincula la investigación psicosocial con la ética y la bioética, lo cual me permitió dirigir este tipo de reflexión hacia problemas como violencia, suicidio, adicciones, depresión y salud mental, y a nuevos campos como los estudios comunitarios, con poblaciones en riesgo o vulnerables, en los cuales las diversas implicaciones son difíciles de indagar. PMID:22754085
Capture-zone design in an aquifer influenced by cyclic fluctuations in hydraulic gradients
NASA Astrophysics Data System (ADS)
Zawadzki, Willy; Chorley, Don; Patrick, Guy
2002-10-01
Design of a groundwater pumping and treatment system for a wood-treatment facility adjacent to the tidally influenced Fraser River estuary required the development of methodologies to account for cyclic variations in hydraulic gradients. Design of such systems must consider the effects of these cyclic fluctuations on the capture of dissolved-phase contaminants. When the period of the cyclic fluctuation is much less than the travel time of the dissolved contaminant from the source to the discharge point, the hydraulic-gradient variations resulting from these cycles can be ignored. Capture zones are then designed based on the average hydraulic gradient determined using filter techniques on continuous groundwater-level measurements. When the period of cyclic fluctuation in hydraulic gradient is near to or greater than the contaminant travel time, the resulting hydraulic-gradient variations cannot be ignored. In these instances, procedures are developed to account for these fluctuations in the capture-zone design. These include proper characterization of the groundwater regime, assessment of the average travel time and period of the cyclic fluctuations, and numerical techniques which allow accounting for the cyclic fluctuations in the design of the capture zone. Résumé. L'étude d'un système de pompage et de traitement de l'eau souterraine d'une usine de traitement du bois proche de l'estuaire de la rivière Fraser, influencé par les marées, a nécessité la mise au point de méthodologies pour prendre en compte les variations cycliques de gradients hydrauliques. L'étude de tels systèmes doit considérer les effets de ces variations cycliques sur l'extraction des contaminants en phase dissoute. Lorsque la période des variations cycliques est très inférieure au temps de parcours du contaminant dissous entre la source et le point d'émergence, les variations du gradient hydraulique résultant de ces cycles peuvent être ignorées. Les zones d'extraction sont alors réalisées sur la base du gradient hydraulique moyen déterminé au moyen de techniques de filtrage sur des mesures continues de la piézométrie. Lorsque la période de la fluctuation cyclique dans le gradient hydraulique est proche de ou supérieure au temps de parcours du contaminant, les variations résultantes de gradient hydraulique ne peuvent plus être ignorées. Dans ces cas-là, des procédures ont été mises au point pour prendre en compte ces fluctuations dans la conception de la zone d'extraction. Celles-ci prennent en considération la caractérisation propre du régime de la nappe, l'évaluation du temps de parcours moyen et de la période des fluctuations cycliques, et des techniques numériques qui permettent de considérer les fluctuations cycliques dans la conception de la zone d'extraction. Resumen. El diseño de un sistema de bombeo y tratamiento de aguas subterráneas para una instalación de manufactura de madera que está próxima al estuario del río Fraser, sometido a la influencia de las mareas, ha requerido el desarrollo de metodologías para tener en cuenta las variaciones cíclicas de los gradientes hidráulicos. El diseño de tales sistemas debe considerar los efectos de las fluctuaciones cíclicas en la captura de contaminantes en fase disuelta. Cuando el período de la fluctuación cíclica es mucho menor que el tiempo de tránsito del contaminante disuelto entre el punto de entrada y el de descarga, se puede ignorar las variaciones del gradiente hidráulico provocadas por dichos ciclos. Las zonas de captura se diseñan entonces en función del gradiente hidráulico promedio, que se determina mediante técnicas de filtrado de medidas continuas del nivel piezométrico. Cuando el período de la fluctuación cíclica del gradiente hidráulico es comparable o mayor que el tiempo de tránsito del contaminante, no puede ignorarse las variaciones resultantes en el gradiente hidráulico. En ese caso, se tiene que desarrollar procedimientos para contar con las fluctuaciones en el diseño de las zonas de captura. Ello implica una adecuada caracterización del régimen de las aguas subterráneas, el establecimiento del tiempo de tránsito y del período de las fluctuaciones cíclicas, y el uso de técnicas numéricas que permitan incluirlas en el diseño de la zona de captura.
NASA Astrophysics Data System (ADS)
Mayor, E.; Velasco, A. M.; Martín, I.; Lavín, C.
Los estados Rydberg moleculares han suscitado en los últimos años un creciente interés entre los espectroscopistas experimentales, motivado en parte por el desarrollo de nuevas técnicas espectroscópicas capaces de investigar estos estados altamente excitados electrónicamente. Los procesos de fotoabsorción que implican estados Rydberg en los derivados halogenados del metano son de gran importancia, debido a su abundancia en la atmósfera y a sus implicaciones medioambientales. Por ello, la obtención de datos relativos a sus fuerzas de oscilador es de gran interés. En este trabajo se aborda el estudio de dichas propiedades para las moléculas isovalentes CF3Cl y CF3Br. Ambas moléculas presentan idéntica estructura electrónica para el estado fundamental por lo que se espera que sus espectros Rydberg presenten grandes similitudes, en ausencia de perturbaciones. Por ello y dada la escasez de datos relativos a fuerzas de oscilador, hemos establecido la corrección de nuestros resultados en base a las analogías esperadas en las intensidades espectrales correspondientes a transiciones análogas. Por otro lado, Novak y col. [1] han encontrado experimentalmente un marcado carácter atómico en el espectro correspondiente a estas moléculas, siendo muy similar a los de los átomos de Cl y Br. Por ello en el presente trabajo, además de establecer la comparación entre ambas moléculas hemos buscado las similitudes con sus respectivos halógenos. Los cálculos relativos a las especies moleculares se han realizado utilizando la Metodología Molécular de Orbítales de Defecto Cuántico (MQDO) [2], mientras que para el estudio de los átomos de Cl y Br se empleó la versión relativista del método (RQDO) [3].
Carvalho, Lilian Regina de; Évora, Yolanda Dora Martinez; Zem-Mascarenhas, Silvia Helena
2016-08-29
to assess the usability of a digital learning technology prototype as a new method for minimally invasive monitoring of intracranial pressure. descriptive study using a quantitative approach on assessing the usability of a prototype based on Nielsen's ten heuristics. Four experts in the area of Human-Computer interaction participated in the study. the evaluation delivered eight violated heuristics and 31 usability problems in the 32 screens of the prototype. the suggestions of the evaluators were critical for developing an intuitive, user-friendly interface and will be included in the final version of the digital learning technology. avaliar a usabilidade de um protótipo educacional digital sobre um novo método para monitoração da pressão intracraniana de forma minimamente invasivo para enfermeiros e médicos. estudo descritivo com abordagem quantitativa sobre a avaliação de usabilidade de um protótipo com base nas dez Heurísticas de Nielsen. Participaram quatro especialistas da área de Interação Humano Computador. a avaliação resultou em oito heurísticas violadas e 31 problemas de usabilidade nas 32 telas do protótipo. as sugestões dos avaliadores foram cruciais para o desenvolvimento de uma interface amigável e intuitiva e serão consideradas na versão final da tecnologia educacional digital. evaluar la usabilidad de un prototipo educacional digital sobre un nuevo método para monitorización de la presión intracraneal, de manera mínimamente invasiva. estudio descriptivo con abordaje cuantitativo sobre la evaluación de usabilidad de un prototipo con base en las diez reglas Heurísticas de Nielsen. Participaron cuatro especialistas del área de Interacción Humana Computador. la evaluación resultó en ocho reglas heurísticas violadas y 31 problemas de usabilidad en las 32 pantallas del prototipo. las sugestiones de los evaluadores fueron cruciales para el desarrollo de una interfaz amigable e intuitiva y éstas serán consideradas en la versión final de la tecnología educacional digital.
Tlili, Abdelaziz; Al Mutery, Abdullah; Kamal Eddine Ahmad Mohamed, Walaa; Mahfood, Mona; Hadj Kacem, Hassen
2017-11-01
Mutations in the gap junction protein beta 2 (GJB2) gene are responsible for more cases of nonsyndromic recessive hearing loss than any other gene. The purpose of our study was to evaluate the prevalence of GJB2 mutations among affected individuals from United Arab Emirates (UAE). There were 50 individuals diagnosed with hereditary hearing loss and 120 healthy individuals enrolled in the study. The Sanger sequencing method was used to screen the GJB2 coding region in all affected individuals. The c.-1G>A variant was determined by the polymerase chain reaction-restriction fragment length polymorphism method in normal individuals. Nine cases with bi-allelic mutations and three cases with mono-allelic mutations were detected in 12 out of 50 patients (24%). The homozygous mutation c.35delG was identified as the cause of hearing loss in six participants (12%). The mutation c.506G>A was identified in three affected individuals (6%). The allelic frequency (14%) and low percentage of individuals that were homozygous (2%) for the c.35delG mutation suggest that there are other genes responsible for nonsyndromic deafness in the UAE population. The results reported here are a preliminary step in collecting epidemiological data regarding autosomal recessive nonsyndromic hearing loss related to GJB2 gene mutations among the UAE population. The c.35delG mutation of the GJB2 gene is the most frequently seen causative mutation in the UAE and is followed by the p.Cys169Tyr mutation.
Çelebi, Mehmet; Sereci, Mark; Boroschek, Ruben; Carreño, Rodrigo; Bonelli, Patricio
2013-01-01
Following the 27 February 2010 (Mw = 8.8) Offshore Maule, Chile earthquake, a temporary, 16-channel, real-time data streaming array was installed in a recently constructed building in Viña del Mar to capture its responses to aftershocks. The cast-in-place, reinforced concrete building is 16 stories high, with 3 additional basement levels, and has dual system comprising multiple structural walls and perimeter frames. This building was not damaged during the main-shock, but other buildings of similar design in Viña del Mar and other parts of Chile were damaged, although none collapsed. Dynamic characteristics of the building identified from the low-amplitude (PGA of about 2 Gal) response recordings of aftershocks are found to compare well with those determined from modal analyses using a design level FEM model. Distinct “major-axes” translational and torsional fundamental frequencies, as well as frequencies of secondary modes, are identified. Evidence of beating is consistently observed in the response data for each earthquake. Results do not match well with U.S. code formulas.
Syrén, Marie-Louise; Tedeschi, Silvana; Cesareo, Laila; Bellantuono, Rosa; Colussi, Giacomo; Procaccio, Mirella; Alì, Anna; Domenici, Raffaele; Malberti, Fabio; Sprocati, Monica; Sacco, Michele; Miglietti, Nunzia; Edefonti, Alberto; Sereni, Fabio; Casari, Giorgio; Coviello, Domenico A; Bettinelli, Alberto
2002-07-01
The SLC12A3 gene encodes the thiazide-sensitive Na-Cl co-transporter (NCCT) expressed in the apical membrane of the distal convoluted tubule of the kidney. Inactivating mutations of this gene are responsible for Gitelman syndrome (GS), a disorder inherited as an autosomal recessive trait. We searched for SLC12A3 gene mutations in 21 Italian patients with the clinical and biochemical features of GS (hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and the absence of nephrocalcinosis). All coding regions with their intron-exon boundaries were analyzed using PCR and SSCP techniques followed by sequencing analysis. We identified 21 different mutations evenly distributed throughout the gene without any mutation hot-spot. Fifteen are novel variants, including 12 missense mutations, one deletion, one deletion-insertion and one splice site mutation: R158Q, T163M, W172R, G316V, G374V, G463E, A464T, S615W, V677M, R852S, R958G, C985Y, 2114-2120delACCAAGT, 2144-2158delGCCTTCTACTCGGATinsTG, and 531-2A>G. Copyright 2002 Wiley-Liss, Inc.
Clinical and genetic investigation of families with type II Waardenburg syndrome
CHEN, YONG; YANG, FUWEI; ZHENG, HEXIN; ZHOU, JIANDA; ZHU, GANGHUA; HU, PENG; WU, WEIJING
2016-01-01
The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of paired box 3 (PAX3), microphthalmia-associated transcription factor (MITF), sex-determining region Y-box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing. The heterozygous mutation, c.649_651delAGA in exon 7 of the MITF gene was detected in the proband and all patients of pedigree 1; however, no pathological mutation of the relevant genes (MITF, SNAI2, SOX10 or PAX3) was detected in pedigrees 2 and 3. The heterozygous mutation c.649_651delAGA in exon 7 of the MITF gene is therefore considered the disease-causing mutation in pedigree 1. However, there are novel disease-causing genes in Waardenburg syndrome type II, which require further research. PMID:26781036
Role of PAHO/WHO in eHealth Capacity Building in the Americas: Analysis of the 2011-2015 period.
Novillo-Ortiz, David; D'Agostino, Marcelo; Becerra-Posada, Francisco
2016-08-01
Political will and adoption of measures toward the use of eHealth have been steadily increasing, facilitating mobilization of resources necessary to adopt and implement digital services that will make it possible to improve access, expand coverage, and increase financial efficiency of health care systems. Adoption of the Strategy and Plan of Action on eHealth of the Pan American Health Organization (PAHO) in 2011 by all Member States in the Region of the Americas has led the Region to major progress in this regard, including the following: creation of knowledge networks and development of information sources, establishment of eHealth sustainability models, support for development of electronic health records, promotion of standards on health data and related technologies that ensure exchange of information, use of mobile devices to improve health, and improvement in quality of care through telemedicine. This article details the main actions carried out by PAHO with regard to eHealth, specifically by the office of Knowledge Management, Bioethics, and Research in the 2011-2015 period (first period of implementation of the PAHO eHealth strategy and plan of action), which include research and capacity-building activities, development of technical guidelines, and formation of knowledge networks. RESUMEN La voluntad política y la adopción de medidas en relación con el uso de la eSalud han ido en aumento de forma constante, favoreciendo la movilización de los recursos necesarios a fin de adoptar y poner en marcha servicios digitales que permitan mejorar el acceso, ampliar la cobertura y aumentar la eficiencia financiera de los sistemas de atención de salud. Con la aprobación de la Estrategia y Plan de Acción de eSalud de la Organización Panamericana de la Salud (OPS) en 2011 por todos los Estados Miembros de la Región de las Américas, se han realizado importantes avances a este respecto en la Región, entre los que se destacan: la creación de redes de conocimiento y desarrollo de fuentes de información, el establecimiento de modelos de sostenibilidad en materia de eSalud, el apoyo al desarrollo de los registros electrónicos de salud, la promoción de normas sobre datos de salud y tecnologías conexas que garanticen el intercambio de información, la utilización de los dispositivos móviles para mejorar la salud y la mejora de la calidad asistencial por medio de la telemedicina. El presente artículo detalla las principales acciones ejecutadas por la OPS en eSalud, específicamente por la Oficina de Gestión del Conocimiento, Bioética e Investigación en el período comprendido entre 2011 y 2015 (primer período de implementación de la estrategia y plan de acción de eSalud de la OPS), entre las que se encuentran actividades de investigación y desarrollo de capacidad, la creación de lineamientos técnicos y la construcción de redes de conocimiento.
Molina, Carlos Federico; Arango, Catalina María; Sepúlveda, Hernán
2018-05-01
Introducción. La leche materna es esencial para el desarrollo del ser humano, pero puede contener sustancias tóxicas provenientes de la contaminación ambiental, especialmente en las áreas mineras.Objetivo. Determinar la prevalencia de la contaminación con mercurio de la leche materna de mujeres lactantes residentes en los municipios con explotación minera de oro.Materiales y métodos. Se hizo un estudio transversal de 150 madres lactantes de cuatro municipios mineros de Antioquia (El Bagre, Segovia, Remedios y Zaragoza), a quienes se les hizo una encuesta sobre factores sociodemográficos, ocupacionales y ambientales relacionados con el mercurio, y se les tomaron muestras de leche materna, de orina y de cabello. Se calculó el promedio de la concentración de mercurio y las prevalencias municipales de contaminación.Resultados. El promedio de la concentración de mercurio en la leche materna fue de 2,5 (± desviación estándar 9,2) μg/L. La prevalencia de muestras de leche materna con niveles altos de mercurio fue de 11,7 %.Conclusión. En este estudio se evidencia un grave problema en las regiones mineras auríferas de Antioquia por el efecto de la contaminación con mercurio en sectores de la población más vulnerable.
Tummala, Hemanth; Fleming, Stewart; Hocking, Paul M.; Wehner, Daniel; Naseem, Zahid; Ali, Manir; Inglehearn, Christopher F.; Zhelev, Nikolai; Lester, Douglas H.
2011-01-01
Background The GNB3 gene is expressed in cone but not rod photoreceptors of vertebrates, where it acts as the β transducin subunit in the colour visual transduction process. A naturally occurring mutation ‘D153del’ in the GNB3 gene causes the recessively inherited blinding phenotype retinopathy globe enlarged (rge) disease in chickens. GNB3 is however also expressed in most other vertebrate tissues suggesting that the D153del mutation may exert pathological effects that outlie from eye. Principal Findings Recombinant studies in COS-7 cells that were transfected with normal and mutant recombinant GNB3 constructs and subjected to cycloheximide chase showed that the mutant GNB3d protein had a much shorter half life compared to normal GNB3. GNB3 codes for the Gβ3 protein subunit that, together with different Gγ and Gα subunits, activates and regulates phosphorylation cascades in different tissues. As expected, the relative levels of cGMP and cAMP secondary messengers and their activated kinases such as MAPK, AKT and GRK2 were also found to be altered significantly in a tissue specific manner in rge chickens. Histochemical analysis on kidney tissue sections, from rge homozygous affected chickens, showed the chickens had enlargement of the glomerular capsule, causing glomerulomegaly and tubulointerstitial inflammation whereas other tissues (brain, heart, liver, pancreas) were unaffected. Significance These findings confirm that the D153del mutation in GNB3 gene targets GNB3 protein to early degradation. Lack of GNB3 signalling causes reduced phosphorylation activity of ERK2 and AKT leading to severe pathological phenotypes such as blindness and renal abnormalities in rge chickens. PMID:21887213
NASA Astrophysics Data System (ADS)
Carlo Ponzo, Felice; Ditommaso, Rocco; Nigro, Antonella; Nigro, Domenico S.; Iacovino, Chiara
2017-04-01
After the Mw 6.0 mainshock of August 24, 2016 at 03.36 a.m. (local time), with the epicenter located between the towns of Accumoli (province of Rieti), Amatrice (province of Rieti) and Arquata del Tronto (province of Ascoli Piceno), several activities were started in order to perform some preliminary evaluations on the characteristics of the recent seismic sequence in the areas affected by the earthquake. Ambient vibration acquisitions have been performed using two three-directional velocimetric synchronized stations, with a natural frequency equal to 0.5Hz and a digitizer resolution of equal to 24bit. The activities are continuing after the events of the seismic sequence of October 26 and October 30, 2016. In this paper, in order to compare recorded and code provision values in terms of peak (PGA, PGV and PGD), spectral and integral (Housner Intensity) seismic parameters, several preliminary analyses have been performed on accelerometric time-histories acquired by three near fault station of the RAN (Italian Accelerometric Network): Amatrice station (station code AMT), Norcia station (station code NRC) and Castelsantangelo sul Nera station (station code CNE). Several comparisons between the elastic response spectra derived from accelerometric recordings and the elastic demand spectra provided by the Italian seismic code (NTC 2008) have been performed. Preliminary results retrieved from these analyses highlight several apparent difference between experimental data and conventional code provision. Then, the ongoing seismic sequence appears compatible with the historical seismicity in terms of integral parameters, but not in terms of peak and spectral values. It seems appropriate to reconsider the necessity to revise the simplified design approach based on the conventional spectral values. Acknowledgements This study was partially funded by the Italian Department of Civil Protection within the project DPC-RELUIS 2016 - RS4 ''Seismic observatory of structures and health monitoring'' and by the "Centre of Integrated Geomorphology for the Mediterranean Area - CGIAM" within the Framework Agreement with the University of Basilicata "Study, Research and Experimentation in the Field of Analysis and Monitoring of Seismic Vulnerability of Strategic and Relevant Buildings for the purposes of Civil Protection and Development of Innovative Strategies of Seismic Reinforcement".
Arsenic contamination of groundwater: Mitigation strategies and policies
NASA Astrophysics Data System (ADS)
Alaerts, Guy J.; Khouri, Nadim
Contamination of groundwater by arsenic from natural geochemical sources is at present a most serious challenge in the planning of large-scale use of groundwater for drinking and other purposes. Recent improvements in detection limits of analytical instruments are allowing the correlation of health impacts such as cancer with large concentrations of arsenic in groundwater. However, there are at present no known large-scale technological solutions for the millions of people-mostly rural-who are potentially affected in developing countries. An overall framework of combating natural resource degradation is combined with case studies from Chile, Mexico, Bangladesh and elsewhere to arrive at a set of strategic recommendations for the global, national and local dimensions of the arsenic ``crisis''. The main recommendations include: the need for flexibility in the elaboration of any arsenic mitigation strategy, the improvement and large-scale use of low-cost and participatory groundwater quality testing techniques, the need to maintain consistent use of key lessons learned worldwide in water supply and sanitation and to integrate arsenic as just one other factor in providing a sustainable water supply, and the following of distinct but communicable tracks between arsenic-related developments and enhanced, long-term, sustainable water supplies. La contamination des eaux souterraines par l'arsenic provenant de sources naturelles est actuellement un sujet des plus graves dans l'organisation d'un recours à grande échelle des eaux souterraines pour la boisson et d'autres usages. De récentes améliorations dans les limites de détection des équipements analytiques permettent de corréler les effets sur la santé tels que le cancer à de fortes concentrations en arsenic dans les eaux souterraines. Toutefois, il n'existe pas actuellement de solutions technologiques à grande échelle connues pour des millions de personnes, surtout en zones rurales, qui sont potentiellement affectées dans les pays en développement. Un cadre d'ensemble pour lutter contre la dégradation naturelle des ressources est associé à des études de cas au Chili, au Mexique, au Bangladesh et ailleurs afin d'établir un ensemble de recommandations stratégiques pour les dimensions globale, nationale et locale de la «crise» de l'arsenic. Les principales recommandations sont les suivantes: le besoin d'une flexibilité pour élaborer une stratégie de diminution de l'arsenic, l'amélioration et l'utilisation à grande échelle de techniques peu coûteuses et associant les populations pour tester la qualité de l'eau souterraine, le besoin de maintenir un usage logique des leçons clés acquises de par le monde pour l'alimentation en eau et la santé publique, celui d'intégrer l'arsenic simplement comme un autre facteur pour assurer une alimentation durable en eau, et pour suivre des pistes distinctes mais communicables entre les développements liés à l'arsenic et les alimentations durables en eau mises en valeurs à long terme. La contaminación de las aguas subterráneas con arsénico procedente de fuentes geoquímicas naturales es actualmente uno de los retos principales de la planificación a gran escala de las aguas subterráneas para uso de boca y otros fines. Las recientes mejoras en los límites de detección del instrumental analítico permiten correlacionar impactos en la salud tales como el cáncer con concentraciones elevadas de arsénico en las aguas subterráneas. Sin embargo, a fecha de hoy no existen soluciones tecnológicas de gran escala para millones de personas-población principalmente rural-que están potencialmente afectadas en los países en vías de desarrollo. Se combina un enfoque general para combatir la degradación de los recursos naturales con estudios concretos de Chile, México, Bangladesh y cualquier otro lugar que permita obtener un conjunto de recomendaciones estratégicas para las dimensiones global, nacional y local de la ``crisis'' del arsénico. Las recomendaciones principales incluyen la necesidad de flexibilizar la elaboración de cualquier estrategia de mitigación del arsénico la mejora y uso a gran escala de técnicas de muestreo de las aguas subterráneas que sean económicas y participativas; la necesidad de mantener un uso coherente de las lecciones clave aprendidas a nivel mundial en el suministro y saneamiento del agua y de integrar el arsénico como otro factor más en la consecución de un suministro sustentable de agua; y el seguimiento de trazas distintas pero comunicables entre los desarrollos relacionados con el arsénico y los abastecimientos de agua sustentables a largo plazo.
Rodríguez-Hidalgo, Antonio; Saladié, Palmira; Ollé, Andreu; Arsuaga, Juan Luis; Bermúdez de Castro, José María; Carbonell, Eudald
2017-04-01
Zooarcheological research is an important tool in reconstructing subsistence, as well as for inferring relevant aspects regarding social behavior in the past. The organization of hunting parties, forms of predation (number and rate of animals slaughtered), and the technology used (tactics and tools) must be taken into account in the identification and classification of hunting methods in prehistory. The archeological recognition of communal hunting reflects an interest in evolutionary terms and their inherent implications for anticipatory capacities, social complexity, and the development of cognitive tools, such as articulated language. Late and Middle Paleolithic faunal assemblages in Europe have produced convincing evidence of communal hunting of large ungulates allowing for the formation of hypotheses concerning the skills of Neanderthals anatomically modern humans as social predators. However, the emergence of this cooperative behavior is not currently understood. Here, faunal analysis, based on traditional/long-established zooarcheological methods, of nearly 25,000 faunal remains from the "bison bone bed" layer of the TD10.2 sub-unit at Gran Dolina, Atapuerca (Spain) is presented. In addition, other datasets related to the archeo-stratigraphy, paleo-landscape, paleo-environmental proxies, lithic assemblage, and ethno-archeological information of communal hunting have been considered in order to adopt a holistic approach to an investigation of the subsistence strategies developed during deposition of the archeological remains. The results indicate a monospecific assemblage heavily dominated by axial bison elements. The abundance of anthropogenic modifications and the anatomical profile are in concordance with early primary access to carcasses and the development of systematic butchering focused on the exploitation of meat and fat for transportation of high-yield elements to somewhere out of the cave. Together with a catastrophic and seasonal mortality pattern, the results indicate the procurement of bison by communal hunting as early as circa 400 kyr. This suggests that the cognitive, social, and technological capabilities required for successful communal hunting were at least fully developed among the pre-Neanderthal paleodeme of Atapuerca during the Lower Paleolithic. Similarly, the early existence of mass communal hunting as a predation technique informs our understanding of the early emergence of predatory skills similar to those exhibited by modern communal hunters. La zooarqueología es una importante herramienta para la reconstrucción de la subsistencia y también para inferir aspectos relevantes del comportamiento social en el pasado. En este trabajo presentamos el análisis faunístico del llamado "lecho de huesos de bisonte", contenido en la subunidad TD10.2 del yacimiento Gran Dolina (Atapuerca, España). La composición taxonómica y perfil anatómico indican un conjunto monoespecífico fuertemente dominado por elementos del esqueleto axial de bisonte (Bison sp.). Las características y abundancia de las modificaciones antrópicas revelan un acceso primario e inmediato a las carcasas, así como el desarrollo de un procesado carnicero sistemático dirigido a la explotación de la carne y grasa, y a la preparación para el transporte de elementos de alto rendimiento hacia algún lugar fuera de la cavidad. Esas características unidas a un perfil de mortalidad catastrófico y estacional, sugieren la obtención de los bisontes mediante caza comunal. La frecuencia, localización e intensidad de las mordeduras de carnívoro en los restos indica un fuerte saqueo de las carcasas de bisonte una vez abandonadas éstas por los homininos en el yacimiento. La suma de decisiones antrópicas sobre el transporte y el posterior saqueo por carnívoros de los despojos abandonados resulta en un conjunto interpretado como lugar de matanza y procesamiento carnicero de bisontes carroñeados posteriormente por las fieras. Las analogías etnográficas, etnohistóricas y arqueológicas nos han permitido interpretar el "lecho de huesos de bisonte" como cazadero utilizado durante varios eventos estacionales de caza comunal en los que rebaños completos de bisontes fueron sacrificados para ser explotados intensamente por los homininos que ocuparon la cueva. El repetido uso estacional de un punto en el territorio para el desarrollo de tareas específicas muestra ciertas similitudes con el patrón logístico de gestión de los recursos. En el mismo sentido, la existencia temprana de la caza comunal como táctica depredatoria nos informa sobre la emergencia de habilidades cognitivas, tecnológicas y sociales similares a aquellas exhibidas por otros cazadores comunales modernos en un momento tan temprano como el Pleistoceno medio. Copyright © 2017 Elsevier Ltd. All rights reserved.
Novel germline PALB2 truncating mutations in African-American breast cancer patients
Zheng, Yonglan; Zhang, Jing; Niu, Qun; Huo, Dezheng; Olopade, Olufunmilayo I.
2011-01-01
Background It has been demonstrated that PALB2 acts as a bridging molecule between the BRCA1 and BRCA2 proteins and is responsible for facilitating BRCA2-mediated DNA repair. Truncating mutations in the PALB2 gene have been reported to be enriched in Fanconi anemia and breast cancer patients in various populations. Methods We evaluated the contribution of PALB2 germline mutations in 279 African-American breast cancer patients including 29 patients with a strong family history, 29 patients with a moderate family history, 75 patients with a weak family history, and 146 non-familial or sporadic breast cancer cases. Results After direct sequencing of all the coding exons, exon/intron boundaries, 5′UTR and 3′UTR of PALB2, three (1.08%; 3 in 279) novel monoallelic truncating mutations were identified: c.758dupT (exon4), c.1479delC (exon4) and c.3048delT (exon 10); together with 50 sequence variants, 27 of which are novel. None of the truncating mutations were found in 262 controls from the same population. Conclusions PALB2 mutations are present in both familial and non-familial breast cancer among African-Americans. Rare PALB2 mutations account for a small but substantial proportion of breast cancer patients. PMID:21932393
Hernández-Juárez, Aideé Alejandra; Lugo-Trampe, José de Jesús; Campos-Acevedo, Luis Daniel; Lugo-Trampe, Angel; Treviño-González, José Luis; de-la-Cruz-Ávila, Israel; Martínez-de-Villarreal, Laura Elia
2014-12-01
Mutations in the DFNB1 locus are the most common cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) worldwide. The aim of this study was to identify the most frequent mutations in patients with ARNSHL who reside in Northeastern Mexico. We determined the nucleotide sequence the coding region of GJB2 of 78 patients with ARNSHL. Polymerase chain reaction assays were used to detect the GJB2 IVS1+1G>A mutation and deletions within GJB6. GJB2 mutations were detected in 9.6% of the alleles, and c.35delG was the most frequent. Six other less-frequent mutations were detected, including an extremely rare variant (c.645_648delTAGA), a novel mutation (c.35G>A), and one of possible Mexican origin (c.34G>T). GJB6 deletions and GJB2 IVS1+1G>A were not detected. These data suggest that mutations in the DFNB1 locus are a rare cause of ARNSHL among the population of Northeastern Mexico. This confirms the genetic heterogeneity of this condition and indicates that further research is required to determine the other mechanisms of pathogenesis of ARNSHL in Mexicans. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.
Ramírez de Arellano, A; Coca, A; de la Figuera, M; Rubio-Terrés, C; Rubio-Rodríguez, D; Gracia, A; Boldeanu, A; Puig-Gilberte, J; Salas, E
2013-10-01
A clinical–genetic function (Cardio inCode®) was generated using genetic variants associated with coronary heart disease (CHD), but not with classical CHD risk factors, to achieve a more precise estimation of the CHD risk of individuals by incorporating genetics into risk equations [Framingham and REGICOR (Registre Gironí del Cor)]. The objective of this study was to conduct an economic analysis of the CHD risk assessment with Cardio inCode®, which incorporates the patient’s genetic risk into the functions of REGICOR and Framingham, compared with the standard method (using only the functions). A Markov model was developed with seven states of health (low CHD risk, moderate CHD risk, high CHD risk, CHD event, recurrent CHD, chronic CHD, and death). The reclassification of CHD risk derived from genetic information and transition probabilities between states was obtained from a validation study conducted in cohorts of REGICOR (Spain) and Framingham (USA). It was assumed that patients classified as at moderate risk by the standard method were the best candidates to test the risk reclassification with Cardio inCode®. The utilities and costs (€; year 2011 values) of Markov states were obtained from the literature and Spanish sources. The analysis was performed from the perspective of the Spanish National Health System, for a life expectancy of 82 years in Spain. An annual discount rate of 3.5 % for costs and benefits was applied. For a Cardio inCode® price of €400, the cost per QALY gained compared with the standard method [incremental cost-effectiveness ratio (ICER)] would be €12,969 and €21,385 in REGICOR and Framingham cohorts, respectively. The threshold price of Cardio inCode® to reach the ICER threshold generally accepted in Spain (€30,000/QALY) would range between €668 and €836. The greatest benefit occurred in the subgroup of patients with moderate–high risk, with a high-risk reclassification of 22.8 % and 12 % of patients and an ICER of €1,652/QALY and €5,884/QALY in the REGICOR and Framingham cohorts, respectively. Sensitivity analyses confirmed the stability of the study results. Cardio inCode® is a cost-effective risk score option in CHD risk assessment compared with the standard method.
Biogas at 4000 m above Sea Level: The pioneering work of Tecnologías en Desarrollo
NASA Astrophysics Data System (ADS)
Beckman, J. E.; Campero, O.
2008-06-01
In this article we describe a series of projects designed to supply families in rural Bolivia with heat for their cooking needs using simple technology to derive biogas from a mixture of animal manure and water. The novelty is that the adaptation of the anaerobic fermentation process to the climatic conditions at 4000 m above sea level has, for the first time, yielded reliable systems that can be maintained by their users. In addition, the non-governmental organization Tecnologías en Desarrollo} has implemented latrines which act as auxiliary supply for the biogenerators, and solar heated showers, all of which go to augmenting the quality of life in the arduous surroundings of the Bolivian Altiplano.
Fontanesi, Luca; Scotti, Emilio; Colombo, Michela; Beretti, Francesca; Forestier, Lionel; Dall'Olio, Stefania; Deretz, Séverine; Russo, Vincenzo; Allain, Daniel; Oulmouden, Ahmad
2010-07-01
In the domestic rabbit (Oryctolagus cuniculus), classical genetic studies have identified five alleles at the Extension locus: ED (dominant black), ES (steel, weaker version of ED), E (wild type, normal extension of black), eJ(Japanese brindling, mosaic distribution of black and yellow) and e (non-extension of black, yellow/red with white belly). Sequencing almost the complete coding sequence (CDS) of the rabbit MC1R gene, we recently identified two in-frame deletions associated with dominant black (c.280_285del6; alleles ED or ES) and recessive red (c.304_333del30; allele e) coat colours. It remained to characterize the eJallele whose phenotypic effect is similar to the Orange and Sex-linked yellow loci of cat and Syrian hamster. We sequenced the whole CDS in 25 rabbits of different coat colours including 10 Japanese and 10 Rhinelander (tricolour) rabbits and identified another 6 bp-in frame deletion flanked by a G > A transition in 5' (c.[124G>A;125_130del6]) that was present in all animals with Japanese brindling coat colour and pattern. These mutations eliminate two amino acids in the first transmembrane domain and, in addition, cause an amino acid substitution at position 44 of the wild type sequence. Genotyping 371 rabbits of 31 breeds with different coat colour this allele (eJ) was present in homozygous state in Japanese, Rhinelander and Dutch tricolour rabbits only (except one albino rabbit). Rabbits with eJ/eJ genotype were non fixed at the non-agouti mutation we previously identified in the ASIP gene. Segregation in F1 and F2 families confirmed the order of dominance already determined by classical genetic experiments with a possible dose effect evident comparing eJ/eJ and eJ/e animals. MC1R mRNA was expressed in black hair skin regions only. The c.[124A;125_130del6] allele may be responsible for a MC1R variant determining eumelanin production in the black areas. However, the mechanism determining the presence of both red and black hairs in the same animal seems more complex. Expression analyses of the c.[124A;125_130del6] allele suggest that MC1R transcription may be regulated epigenetically in rabbits with the Japanese brindling phenotype. Further studies are needed to clarify this issue.
Sequías Hidrológicas en la República Argentina y su relación con Variables Macroclimáticas
NASA Astrophysics Data System (ADS)
Díaz, Erica Betiana
2016-07-01
Una adecuada planificación y gestión requiere un conocimiento de la distribución temporal y espacial de los recursos hídricos. Una amenaza que afecta al desarrollo y aprovechamiento de los recursos hídricos, y para las cuales la ingeniería debe dar soluciones, son las situaciones de extremos hidrológicos como inundaciones o sequías. Siendo estas últimas un fenómeno hidrológico extremo de gran complejidad del cual aún se conoce poco. Con el objetivo de identificar y caracterizar temporal y espacialmente las sequías hidrológicas en Argentina, esta tesis abordó en primera instancia, la identificación y caracterización de sequías desde el punto de vista hidrológico, abarcando el mayor período de tiempo y espacio, en función de los datos de caudales disponibles. Con el fin de predecir eventos plurianuales de sequías hidrológicas en el mediano y largo plazo se generaron, a través del análisis espectral y armónico de las series históricas de caudales observados, series sintéticas que reproducen las componentes periódicas plurianuales más significativas de las series observadas. Además, para lograr un avance en el conocimiento de los fenómenos climáticos que conducen a las sequías hidrológicas, se identificaron las variables macroclimáticas que tienen una mayor correlación con los caudales escurridos en las distintas cuencas. Esta tesis comprende el estudio de 14 cuencas hidrográficas argentinas, pertenecientes a los ríos Colorado, Mendoza, San Juan, Atuel, Ctalamochita, Anizacate, Xanaes, Suquía, Dulce, Juramento, Salado, Paraná, Bermejo y Pilcomayo. Los resultados a los que se abordaron en esta tesis son de relevancia para la gestión de los recursos hídricos ya que usos tales como el abastecimiento humano, el riego y la producción energética, entre otros, pueden ser seriamente afectados por la ocurrencia de manera simultánea de sequías severas en cuencas que aportan a una región y zonas vecinas.
A participatory approach to integrated aquifer management: The case of Guanajuato State, Mexico
NASA Astrophysics Data System (ADS)
Sandoval, Ricardo
Guanajuato State, located in central Mexico, with less than 2% of the country's area, has almost 17,000 deep water wells, from which nearly 4,000 cubic hectometers (hm3) per year are being extracted, more than 1,000 hm3 over the estimated renewable yield. Since, in Mexico, water is administered under federal jurisdiction by the National Water Commission (CNA, for its Spanish acronym), the state government faces the challenge of ensuring its population's economic development without formal means of intervention. Being thus limited to apply mandatory policies and measures, the state water program has focused on the implementation of a two-sided strategy. First, basic hydrogeological studies and mathematical groundwater hydrodynamic models were developed upon a comprehensive survey of existing wells and a general revision of the state's geological framework. Second, a structure for water user's participation in water management actions was promoted (from the dissemination of information to the implementation of pilot efficient water use projects) with financial, technical and political support from the state. Simultaneously, a coordinated effort towards the completion of the water user's registry was performed with the federal authority along with other supporting measures such as training and monitoring programs. In this paper, a general overview of the project's achievements and challenges is presented. L'État de Guanajuato, situé dans la partie centrale du Mexique, avec moins de 2% de la surface du pays, a près de 17 000 puits profonds, d'où sont extraits près de 4 000 hm3 par an, soit plus de 1 000 hm3 de plus que le débit renouvelable estimé. Comme au Mexique l'eau est administrée dans le cadre d'une juridiction fédérale, le gouvernement de l'État fait tout son possible pour assurer le développement de sa population sans moyens formels d'intervention. Étant ainsi limité à appliquer des politiques et des mesures de recommandations, le programme Eau de l'État s'est appliqué à développer une stratégie sur deux plans. Tout d'abord, des études hydrogéologiques de base et des modèles mathématiques d'écoulement et de transport de nappe ont été réalisés à partir d'un suivi d'ensemble des puits existants et d'une révision générale du contexte géologique de l'État. Ensuite, on a soutenu une structure de participation des usagers de l'eau aux actions de gestion de l'eau, à partir de la dissémination de l'information pour la mise en place de projets pilotes efficaces d'utilisation de l'eau, avec des aides financières, techniques et politiques de l'État. Simultanément, un effort coordonné en vue de l'achèvement de l'enregistrement des usagers de l'eau a été fait avec l'autorité fédérale, en même temps que d'autres mesures de soutien, telles que des programmes de formation et des campagnes de surveillance. Cet article présente une vue d'ensemble des réalisations de projets et des défis. Resumen El Estado de Guanajuato, situado en el centro de México, ocupa menos del 2% de la superficie del país. Tiene casi 17.000 pozos profundos, de los cuales se extrae cerca de 4.000 hm3/a, lo que supone un exceso de 1.000 hm3/a respecto a la recarga anual. Puesto que el agua es administrada a nivel federal en México, el gobierno del Estado afronta el reto de asegurar el desarrollo de la población sin disponer de medios formales de intervención. Dadas las limitaciones para aplicar políticas y medidas reguladoras, el programa del agua en el Estado tiene como objetivo principal la implantación de una doble estrategia. Por un lado, desarrollar estudios hidrogeológicos básicos y modelos matemáticos de flujo y transporte de los acuíferos, basándose en una campaña exhaustiva de pozos existentes y en una revisión del marco geológico del Estado. Por otro lado, promover-con soporte financiero, técnico y político-una estructura de participación de los usuarios en las acciones de gestión, incluyendo desde la difusión de la información hasta la implantación de proyectos piloto para un uso eficiente del agua. Simultáneamente, se ha llevado a cabo un esfuerzo coordinado con la autoridad federal para completar el registro de usuarios del agua, además de promover otras medidas de ayuda, como programas de capacitación y campañas de muestreo. En este artículo, se ofrece una visión general de los logros y retos del proyecto.
Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.
Hershkovitz, Eli; Parvari, Ruti; Diaz, George A; Gorodischer, Rafael
2004-12-01
Hypoparathyroidism, retardation, and dysmorphism (HRD) is a newly recognized genetic syndrome, described in patients of Arab origin. The syndrome consists of permanent congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and profound global developmental delay. The patients are susceptible to severe infections including life-threatening pneumococcal infections especially during infancy. The main dysmorphic features are microcephaly, deep-set eyes or microphthalmia, ear abnormalities, depressed nasal bridge, thin upper lip, hooked small nose, micrognathia, and small hands and feet. A single 12-bp deletion (del52-55) in the second coding exon of the tubulin cofactor E (TCFE) gene, located on the long arm of chromosome 1, is the cause of HRD among Arab patients. Early recognition and therapy of hypocalcemia is important as is daily antibiotic prophylaxis against pneumococcal infections.
Identification of new mutations in primary hyperoxaluria type 1 (PH1).
von Schnakenburg, C; Rumsby, G
1998-01-01
Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). The AGXT gene, which codes for the 392 amino acid protein, has been mapped to chromosome 2q37.3. In order to identify new mutations in the AGXT gene we studied 79 PH1 patients using single strand conformation polymorphism analysis. In addition to a cluster of new mutations in exon 7 we report five novel mutations in exons 2, 4, 5, 9 and 10. These are T444C, G640A, G690A, 1008-1010delGCG and G1171A. These five new mutations contribute to our knowledge of the AGXT gene. Their possible consequences for PH1 phenotype and enzyme activity are discussed.
NASA Astrophysics Data System (ADS)
Wilson, L. G.; Matlock, W. G.; Jacobs, K. L.
The 1995 Water Consumer Protection Act of Tucson, Arizona, USA (hereafter known as the Act) was passed following complaints from Tucson Water customers receiving treated Central Arizona Project (CAP) water. Consequences of the Act demonstrate the uncertainties and difficulties that arise when the public is asked to vote on a highly technical issue. The recharge requirements of the Act neglect hydrogeological uncertainties because of confusion between "infiltration" and "recharge." Thus, the Act implies that infiltration in stream channels along the Central Wellfield will promote recharge in the Central Wellfield. In fact, permeability differences between channel alluvium and underlying basin-fill deposits may lead to subjacent outflow. Additionally, even if recharge of Colorado River water occurs in the Central Wellfield, groundwater will become gradually salinized. The Act's restrictions on the use of CAP water affect the four regulatory mechanisms in Arizona's 1980 Groundwater Code as they relate to the Tucson Active Management Area: (a) supply augmentation; (b) requirements for groundwater withdrawals and permitting; (c) Management Plan requirements, particularly mandatory conservation and water-quality issues; and (d) the requirement that all new subdivisions use renewable water supplies in lieu of groundwater. Political fallout includes disruption of normal governmental activities because of the demands in implementing the Act. Résumé La loi de 1995 sur la protection des consommateurs d'eau de Tucson (Arizona, États-Unis) a été promulguée à la suite des réclamations des consommateurs d'eau de Tucson alimentés en eau traitée à partir à la station centrale d'Arizona (CAP). Les conséquences de cette loi montrent les incertitudes et les difficultés qui apparaissent lorsque le public est appeléà voter sur un problème très technique. Les exigences de la loi en matière de recharge négligent les incertitudes hydrogéologiques du fait de la confusion entre "infiltration" et "recharge". C'est ainsi que la loi laisse entendre que l'infiltration à partir des lits de rivières le long du champ captant central favorise la recharge de cette zone. En réalité, les différences de perméabilité entre les alluvions du lit et les dépôts sous-jacents remplissant le bassin peuvent provoquer un écoulement sous-jacent. En outre, même si une recharge par l'eau de la rivière Colorado se produit dans cette zone, la nappe sera progressivement salifiée. Les restrictions imposées par la loi quant à l'utilisation de l'eau de la station centrale d'Arizona affectent les quatre outils réglementaires du Code des eaux souterraines de l'Arizona de 1980, en ce qu'ils concernent la zone de gestion active de Tucson: (a) l'augmentation de l'approvisionnement (b) les conditions requises pour les prélèvements d'eau souterraine et les autorisations; (c) les conditions requises pour le plan de gestion, en particulier la pérennité du concessionnaire et les résultats en matière de qualité de l'eau et (d) la condition que tous les nouveaux districts aient recours à des ressources en eau renouvelables à la place de l'eau souterraine. Les demandes concernant la mise en oeuvre de la loi ont conduit jusqu'à l'arrêt des activités normales des instances politiques. Resumen El Acta de Protección de los Usuarios de Agua de Tucson, Arizona (EE.UU.) de 1995 (el Acta) se aprobó a raíz de las quejas de los usuarios de agua de Tucson que recibían agua tratada por el Proyecto de Arizona Central (CAP). Las consecuencias del Acta demuestran las incertidumbres y dificultades que se producen cuando se le pide al público que vote sobre temas muy técnicos. Los requerimientos de recarga del Acta desprecian incertidumbres hidrogeológicas al confundir entre "infiltración" y "recarga". Así, el Acta dice que la infiltración en los canales de los arroyos a lo largo del Campo de Producción Central aumentará la recarga a dicho campo. De hecho, la diferencia de permeabilidad entre el canal aluvial y los depósitos de relleno subyacentes puede provocar descarga subyacente. Además, incluso si el Río Colorado recargase este Campo Central, el agua subterránea se salinizaría progresivamente. Las restricciones del Acta sobre el uso del agua del CAP afectan los cuatro mecanismos legales del Código de Aguas Subterráneas de Arizona de 1980 relacionados con el Área de Gestión Activa de Tucson: (a) aumento del suministro; (b) requisitos y permisos para la extracción de aguas subterráneas (c) necesidades del Plan de Gestión, particularmente la conservación obligatoria y temas de calidad de aguas; y (d) la obligación de que todas las nuevas subdivisiones usen agua con suministro renovable en lugar de subterránea. Como problemas adicionales se incluye la perturbación de las actividades políticas normales como consecuencia de las demandas para aprobar y poner en marcha el Acta.
NASA Astrophysics Data System (ADS)
Darroz, Luiz Marcelo; Heineck, Renato; Samudio Pérez, Carlos Ariel
2011-12-01
In this report, the development of a methodological proposal which approaches basic concepts of astronomy-grounded pedagogically on Meaningful Learning is described. The proposal, which consists of four meetings, was developed by teachers and academics of the course of Professor in Physics of the University of Passo Fundo (UPF), through an extension course to a group of highschool students of a public school of the town of Passo Fundo, RS. The work was focused into basic concepts of astronomy. The signs of Meaningful Learning have been obtained by means of research and evaluation tools that were applied at the end of each meeting. The evaluation of the proposal has been conducted by means of a final questionnaire which was answered by the participants at the end ofthe development of activities. By means of the results obtained from the different instruments, and the comments made by the participants during the activities and by means of the high rates of approval obtained in the final questionnaire, we think that the proposal reached the established goals and it may be repeated with the certainty of success. En este relato se describe una propuesta de desarrollo metodológico que aborda conceptos básicos de astronomía fundamentada pedagógicamente en el Aprendizaje Significativo. La propuesta que comprende cuatro encuentros, fue desarrollada por profesores y académicos del curso de Licenciatura en Física de la Universidad de Passo Fundo (UPF), a través de un curso de extensión para un grupo de Liceo del 6º año de una Escuela Pública de la ciudad de Passo Fundo/RS. El trabajo tuvo como eje principal los "conceptos básicos de astronomía". Los indicios de Aprendizaje Significativo fueron obtenidos por instrumentos de pesquisa y evaluación, siempre aplicados después de cada encuentro. La evaluación de la propuesta fue hecha a través de un cuestionario final y contestado por los participantes al finalizar el desarrollo de actividades. Por los resultados obtenidos en diferentes momentos, por los comentarios efectuados por los participantes durante las actividades y por los altos índices de aprobación al final de la etapa, consideramos que la propuesta atingió los objetivos establecidos y puede ser repetida con certeza de éxito. Neste relato, descreve-se o desenvolvimento de uma proposta metodológica que aborda conceitos básicos de astronomia fundamentada pedagogicamente na Aprendizagem Significativa. A proposta, que compreende quatro encontros, foi desenvolvida por professores e acadêmicos do curso de Licenciatura em Física da Universidade de Passo Fundo (UPF), através de um curso de extensão, a um grupo de dez estudantes do ensino médio de uma escola pública da cidade de Passo Fundo, RS. O trabalho centrou-se em conceitos básicos de astronomia. Os indícios da aprendizagem significativa foram obtidos por instrumentos de pesquisa e avaliação aplicados ao término de cada encontro. A avaliação da proposta foi efetuada através de um questionário final respondido pelos participantes ao término do desenvolvimento das atividades. Pelos resultados obtidos nos diferentes instrumentos, pelos comentários efetuados pelos participantes durante as atividades e pelos altos índices de aprovação alcançados no questionário final, consideramos que a proposta atingiu os objetivos estabelecidos e pode ser repetida com convicção de sucesso.
Cheng, Hui; Li, Jinfeng; Zhang, Hong; Cai, Binhua; Gao, Zhihong
2017-01-01
Compared with other members of the family Rosaceae, the chloroplast genomes of Fragaria species exhibit low variation, and this situation has limited phylogenetic analyses; thus, complete chloroplast genome sequencing of Fragaria species is needed. In this study, we sequenced the complete chloroplast genome of F. × ananassa ‘Benihoppe’ using the Illumina HiSeq 2500-PE150 platform and then performed a combination of de novo assembly and reference-guided mapping of contigs to generate complete chloroplast genome sequences. The chloroplast genome exhibits a typical quadripartite structure with a pair of inverted repeats (IRs, 25,936 bp) separated by large (LSC, 85,531 bp) and small (SSC, 18,146 bp) single-copy (SC) regions. The length of the F. × ananassa ‘Benihoppe’ chloroplast genome is 155,549 bp, representing the smallest Fragaria chloroplast genome observed to date. The genome encodes 112 unique genes, comprising 78 protein-coding genes, 30 tRNA genes and four rRNA genes. Comparative analysis of the overall nucleotide sequence identity among ten complete chloroplast genomes confirmed that for both coding and non-coding regions in Rosaceae, SC regions exhibit higher sequence variation than IRs. The Ka/Ks ratio of most genes was less than 1, suggesting that most genes are under purifying selection. Moreover, the mVISTA results also showed a high degree of conservation in genome structure, gene order and gene content in Fragaria, particularly among three octoploid strawberries which were F. × ananassa ‘Benihoppe’, F. chiloensis (GP33) and F. virginiana (O477). However, when the sequences of the coding and non-coding regions of F. × ananassa ‘Benihoppe’ were compared in detail with those of F. chiloensis (GP33) and F. virginiana (O477), a number of SNPs and InDels were revealed by MEGA 7. Six non-coding regions (trnK-matK, trnS-trnG, atpF-atpH, trnC-petN, trnT-psbD and trnP-psaJ) with a percentage of variable sites greater than 1% and no less than five parsimony-informative sites were identified and may be useful for phylogenetic analysis of the genus Fragaria. PMID:29038765
Ferrari, Eleonora; Monzani, Romina; Villella, Valeria R; Esposito, Speranza; Saluzzo, Francesca; Rossin, Federica; D'Eletto, Manuela; Tosco, Antonella; De Gregorio, Fabiola; Izzo, Valentina; Maiuri, Maria C; Kroemer, Guido; Raia, Valeria; Maiuri, Luigi
2017-01-12
Cystic fibrosis (CF), the most common lethal monogenic disease in Caucasians, is characterized by recurrent bacterial infections and colonization, mainly by Pseudomonas aeruginosa, resulting in unresolved airway inflammation. CF is caused by mutations in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which functions as a chloride channel in epithelial cells, macrophages, and other cell types. Impaired bacterial handling by macrophages is a feature of CF airways, although it is still debated how defective CFTR impairs bacterial killing. Recent evidence indicates that a defective autophagy in CF macrophages leads to alterations of bacterial clearance upon infection. Here we use bone marrow-derived macrophages from transgenic mice to provide the genetic proof that defective CFTR compromises both uptake and clearance of internalized Pseudomonas aeruginosa. We demonstrate that the proteostasis regulator cysteamine, which rescues the function of the most common F508del-CFTR mutant and hence reduces lung inflammation in CF patients, can also repair the defects of CF macrophages, thus restoring both bacterial internalization and clearance through a process that involves upregulation of the pro-autophagic protein Beclin 1 and re-establishment of the autophagic pathway. Altogether these results indicate that cysteamine restores the function of several distinct cell types, including that of macrophages, which might contribute to its beneficial effects on CF.
Parvari, R; Moses, S; Shen, J; Hershkovitz, E; Lerner, A; Chen, Y T
1997-01-01
Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen-debranching enzyme (AGL). The overall incidence of the disease is about 1:100,000 life births in the USA; however, it is unusually frequent among North African Jews in Israel (prevalence 1:5,400, carrier prevalence 1:35). All North African Jewish GSD III patients examined have both liver and muscle involvement. While all patients showed the characteristic features related to the liver enzyme deficiency, the peripheral muscular impairment varied from minimal to severe, with neuromuscular involvement. A single mutation in the AGL gene, the deletion of T at position 4,455 (4,455delT) in homozygous form, was found in this patient population. The mutation 4,455delT results in the change of 17 amino acids at the carboxy terminus of the AGL protein (1,486-1,502) and truncation of the last 30 amino acids of the normal AGL 1,532 amino acids. The mutation appears to be ethnic specific as it was not seen in 18 patients of different ethnic origins. This is the first report of a mutation in the AGL gene affecting a considerable number of GSD III patients in a defined population.
Ferrari, Eleonora; Monzani, Romina; Villella, Valeria R; Esposito, Speranza; Saluzzo, Francesca; Rossin, Federica; D'Eletto, Manuela; Tosco, Antonella; De Gregorio, Fabiola; Izzo, Valentina; Maiuri, Maria C; Kroemer, Guido; Raia, Valeria; Maiuri, Luigi
2017-01-01
Cystic fibrosis (CF), the most common lethal monogenic disease in Caucasians, is characterized by recurrent bacterial infections and colonization, mainly by Pseudomonas aeruginosa, resulting in unresolved airway inflammation. CF is caused by mutations in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which functions as a chloride channel in epithelial cells, macrophages, and other cell types. Impaired bacterial handling by macrophages is a feature of CF airways, although it is still debated how defective CFTR impairs bacterial killing. Recent evidence indicates that a defective autophagy in CF macrophages leads to alterations of bacterial clearance upon infection. Here we use bone marrow-derived macrophages from transgenic mice to provide the genetic proof that defective CFTR compromises both uptake and clearance of internalized Pseudomonas aeruginosa. We demonstrate that the proteostasis regulator cysteamine, which rescues the function of the most common F508del-CFTR mutant and hence reduces lung inflammation in CF patients, can also repair the defects of CF macrophages, thus restoring both bacterial internalization and clearance through a process that involves upregulation of the pro-autophagic protein Beclin 1 and re-establishment of the autophagic pathway. Altogether these results indicate that cysteamine restores the function of several distinct cell types, including that of macrophages, which might contribute to its beneficial effects on CF. PMID:28079883
De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.
Chen, Kaitian; Zong, Ling; Liu, Min; Zhan, Yuan; Wu, Xuan; Zou, Wenting; Jiang, Hongyan
2014-06-01
Waardenburg syndrome is a rare genetic disorder, inherited as an autosomal dominant trait. The condition is characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. The de novo mutation in the SOX10 gene, responsible for Waardenburg syndrome type II, is rarely seen. The present study aimed to identify the genetic causes of Waardenburg syndrome type II in a Chinese family. Clinical and molecular evaluations were conducted in a Chinese family with Waardenburg syndrome type II. A novel SOX10 heterozygous c.259-260delCT mutation was identified. Heterozygosity was not observed in the parents and sister of the proband, indicating that the mutation has arisen de novo. The novel frameshift mutation, located in exon 3 of the SOX10 gene, disrupted normal amino acid coding from Leu87, leading to premature termination at nucleotide 396 (TGA). The high mobility group domain of SOX10 was inferred to be partially impaired. The novel heterozygous c.259-260delCT mutation in the SOX10 gene was considered to be the cause of Waardenburg syndrome in the proband. The clinical and genetic characterization of this family would help elucidate the genetic heterogeneity of SOX10 in Waardenburg syndrome type II. Moreover, the de novo pattern expanded the mutation data of SOX10. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.
Your Child's Development: 9 Months
... Child's Development: 9 Months Print en español El desarrollo de su hijo: 9 meses Nine-month-olds ... item in each hand at the same time Social and Emotional Development might be fearful of strangers ...
Your Child's Development: 15 Months
... Things That Help Feelings Expert Answers Q&A Movies & More for Teens Teens ... español El desarrollo de su hijo: 15 meses Toddlers this age are learning to express themselves to get what they want. ...
AB067. X-linked adrenoleukodystrophy: Phenotype and genotype in Vietnamese patients
Nguyen, Khanh Ngoc; Nguyen, Ha Thu; Can, Ngoc Thi Bich; Bui, Thao Phuong; Nobuyuki, Shimozawa; Vu, Huynh Anh; Do, Mai Thi Thanh; Vu, Dung Chi
2017-01-01
Background X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. This disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency. Objective is to identify phenotype and genotype in Vietnamese patients with X-ALD. Methods Genomic DNA from 20 Vietnamese patients from 18 unrelated families was extracted using standard procedures from the peripheral blood leukocytes. Mutation analysis of ABCD1 was performed using polymerase chain reaction (PCR) and DNA direct sequencing. Results We identified 17 different mutations of ABCD1 in 20 patients including missense mutations (2/17), deletion (4/17), frameshift mutation (1/17) and splice site mutation (1/17). Of which, six novel mutations including c.1202G>T (p.Arg401Trp); c.1208T>A (p.Met403Lys); IVS8+28-551bp del; c.1668G>C (p.Q556H); c.292_296delTCGGC (p.S98RfsX95); and the extent of deletion included between IVS1+505 and IVS2+1501, containing whole the exon 2 (4243bp), plus insertion of 79bp from BAP31 and 8bp from unknown origin in this deleted region were identified in six unrelated patients. Eleven reported mutations including c.796G>A (p.Gly266Arg); c.1628C>T (p.Pro543Leu); c.1553G>A (p.Arg518Gln); c.1552 C>T (p.Arg518Trp); c.854G>C (p.R285P); c.1825G>A (p.E609K); c.1415_1416delAG (p.Q472RfsX83) and c.46-53del insG, c.1553G>A (p.Arg518Gln), c.1946-1947insA (p.Asp649fsX733), c.1978C>T (p.Arg660Trp) were identified in 14 patients from 12 families. Most of patients (17/20) presented cerebral ALD type with/without adrenal insufficiency and only 3 patients presented Addison type. Conclusions Mutation analysis of ABCD1 gene helped confirmation of diagnosis of X-ALD, genetic counselling and prenatal diagnosis but could not be used to predict the specific phenotype of X-ALD.
A novel germline PALB2 deletion in Polish breast and ovarian cancer patients.
Dansonka-Mieszkowska, Agnieszka; Kluska, Anna; Moes, Joanna; Dabrowska, Michalina; Nowakowska, Dorota; Niwinska, Anna; Derlatka, Pawel; Cendrowski, Krzysztof; Kupryjanczyk, Jolanta
2010-02-02
PALB2 protein was recently identified as a partner of BRCA1 and BRCA2 which determines their proper function in DNA repair. Initially, the entire coding sequence of the PALB2 gene with exon/intron boundaries was evaluated by the PCR-SSCP and direct sequencing methods on 70 ovarian carcinomas. Sequence variants of interest were further studied on enlarged groups of ovarian carcinomas (total 339 non-consecutive ovarian carcinomas), blood samples from 334 consecutive sporadic and 648 consecutive familial breast cancer patients, and 1310 healthy controls from central Poland. Ten types of sequence variants were detected, and among them four novel polymorphisms: c.2996+58T>C in intron 9; c.505C>A (p.L169I), c.618T>G (p.L206L), both in exon 4; and c.2135C>T (A712V) in exon 5 of the PALB2 gene. Another two polymorphisms, c.212-58A>C and c.2014G>C (E672Q) were always detected together, both in cancer (7.5% of patients) and control samples (4.9% of controls, p = 0.2). A novel germline truncating mutation, c.509_510delGA (p.R170fs) was found in exon 4: in 2 of 339 (0.6%) unrelated ovarian cancer patients, in 4 of 648 (0.6%) unrelated familial breast cancer patients, and in 1 of 1310 controls (0.08%, p = 0.1, p = 0.044, respectively). One ovarian cancer patient with the PALB2 mutation had also a germline nonsense mutation of the BRCA2 gene. The c.509_510delGA is a novel PALB2 mutation that increases the risk of familial breast cancer. Occurrence of the same PALB2 alteration in seven unrelated women suggests that c.509_510delGA (p.R170fs) is a recurrent mutation for Polish population.
Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm
García Castaño, Alejandro; Pérez de Nanclares, Gustavo; Madariaga, Leire; Aguirre, Mireia; Madrid, Alvaro; Nadal, Inmaculada; Navarro, Mercedes; Lucas, Elena; Fijo, Julia; Espino, Mar; Espitaletta, Zilac; Castaño, Luis; Ariceta, Gema
2013-01-01
The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride channel protein ClC-Kb, in a cohort of 26 affected patients from 23 families. The diagnostic algorithm was: first, detection of the p.Ala204Thr mutation; second, detecting large deletions or duplications by Multiplex Ligation-dependent Probe Amplification and Quantitative Multiplex PCR of Short Fluorescent Fragments; and third, sequencing of the coding and flanking regions of the whole CLCNKB gene. In our genetic diagnosis, 20 families presented with the p.Ala204Thr mutation. Of those, 15 patients (15 families) were homozygous (57.7% of overall patients). Another 8 patients (5 families) were compound heterozygous for the founder mutation together with a second one. Thus, 3 patients (2 siblings) presented with the c. -19-?_2053+? del deletion (comprising the entire gene); one patient carried the p.Val170Met mutation (exon 6); and 4 patients (3 siblings) presented with the novel p.Glu442Gly mutation (exon 14). On the other hand, another two patients carried two novel mutations in compound heterozygosis: one presented the p.Ile398_Thr401del mutation (exon 12) associated with the c. -19-?_2053+? del deletion, and the other one carried the c.1756+1G>A splice-site mutation (exon 16) as well as the already described p.Ala210Val change (exon 7). One case turned out to be negative in our genetic screening. In addition, 51 relatives were found to be heterozygous carriers of the described CLCNKB mutations. In conclusion, different mutations cause type III Bartter syndrome in Spain. The high prevalence of the p.Ala204Thr in Spanish families thus justifies an initial screen for this mutation. However, should it not be detected further investigation of the CLCNKB gene is warranted in clinically diagnosed families. PMID:24058621
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.
García Castaño, Alejandro; Pérez de Nanclares, Gustavo; Madariaga, Leire; Aguirre, Mireia; Madrid, Alvaro; Nadal, Inmaculada; Navarro, Mercedes; Lucas, Elena; Fijo, Julia; Espino, Mar; Espitaletta, Zilac; Castaño, Luis; Ariceta, Gema
2013-01-01
The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride channel protein ClC-Kb, in a cohort of 26 affected patients from 23 families. The diagnostic algorithm was: first, detection of the p.Ala204Thr mutation; second, detecting large deletions or duplications by Multiplex Ligation-dependent Probe Amplification and Quantitative Multiplex PCR of Short Fluorescent Fragments; and third, sequencing of the coding and flanking regions of the whole CLCNKB gene. In our genetic diagnosis, 20 families presented with the p.Ala204Thr mutation. Of those, 15 patients (15 families) were homozygous (57.7% of overall patients). Another 8 patients (5 families) were compound heterozygous for the founder mutation together with a second one. Thus, 3 patients (2 siblings) presented with the c. -19-?_2053+? del deletion (comprising the entire gene); one patient carried the p.Val170Met mutation (exon 6); and 4 patients (3 siblings) presented with the novel p.Glu442Gly mutation (exon 14). On the other hand, another two patients carried two novel mutations in compound heterozygosis: one presented the p.Ile398_Thr401del mutation (exon 12) associated with the c. -19-?_2053+? del deletion, and the other one carried the c.1756+1G>A splice-site mutation (exon 16) as well as the already described p.Ala210Val change (exon 7). One case turned out to be negative in our genetic screening. In addition, 51 relatives were found to be heterozygous carriers of the described CLCNKB mutations. In conclusion, different mutations cause type III Bartter syndrome in Spain. The high prevalence of the p.Ala204Thr in Spanish families thus justifies an initial screen for this mutation. However, should it not be detected further investigation of the CLCNKB gene is warranted in clinically diagnosed families.
A novel mutation in SCN9A in a child with congenital insensitivity to pain.
Shorer, Zamir; Wajsbrot, Einav; Liran, Tamir-Hostovsky; Levy, Jacov; Parvari, Ruti
2014-01-01
[corrected] Congenital insensitivity to pain (CIP) is a rare condition in which patients have no pain perception and anosmia but are otherwise essentially normal (OMIM 243000). The recent discovery of the genetic defects underlying 3 monogenic pain disorders has provided additional and important insights about some components of human pain. Genetic studies in families demonstrating recessively inherited channelopathy-associated insensitivity to pain have identified nonsense mutations that result in truncation of the voltage-gated sodium channel type IX subunit (SCN9A), a 113.5-kb gene comprising coding 26 exons. Here we describe a patient with CIP with a new mutation in SCN9A not described yet. All exons were sequenced. All 26 coding exons were sequenced and two changes were identified in homozygosity in exon 10: c.1126 A > C causing K376Q and c.1124delG causing p.G375Afs* frame shift. We report a novel, loss-of-function mutation in homozygosity that causes congenital insensitivity to pain and provide a comprehensive clinical description of the patient. This contributes to the clinical and neurophysiological characteristic of the sodium channel Nav1.7 channelopathy and expand our genetic knowledge which might provide more accurate and comprehensive clinical electrophysiological and genetic information. Copyright © 2014 Elsevier Inc. All rights reserved.
Delaney, Nigel F.; Marx, Christopher J.
2012-01-01
Understanding evolutionary dynamics within microbial populations requires the ability to accurately follow allele frequencies through time. Here we present a rapid, cost-effective method (FREQ-Seq) that leverages Illumina next-generation sequencing for localized, quantitative allele frequency detection. Analogous to RNA-Seq, FREQ-Seq relies upon counts from the >105 reads generated per locus per time-point to determine allele frequencies. Loci of interest are directly amplified from a mixed population via two rounds of PCR using inexpensive, user-designed oligonucleotides and a bar-coded bridging primer system that can be regenerated in-house. The resulting bar-coded PCR products contain the adapters needed for Illumina sequencing, eliminating further library preparation. We demonstrate the utility of FREQ-Seq by determining the order and dynamics of beneficial alleles that arose as a microbial population, founded with an engineered strain of Methylobacterium, evolved to grow on methanol. Quantifying allele frequencies with minimal bias down to 1% abundance allowed effective analysis of SNPs, small in-dels and insertions of transposable elements. Our data reveal large-scale clonal interference during the early stages of adaptation and illustrate the utility of FREQ-Seq as a cost-effective tool for tracking allele frequencies in populations. PMID:23118913
Diana, Anna; Polizzi, Angela Maria; Santostasi, Teresa; Ratclif, Luigi; Pantaleo, Maria Giuseppina; Leonetti, Giuseppina; Iusco, Danila Rosa; Gallo, Crescenzio; Conese, Massimo; Manca, Antonio
2016-06-01
Few mutations in cis have been annotated for F508del homozygous patients. Southern Italy patients who at a first analysis appeared homozygous for the F508del mutation (n=63) or compound heterozygous for the F508del and another mutation in the cystic fibrosis transmembrane conductance regulator gene (n=155) were searched for the A238V mutation in exon 6. The allelic frequency of the complex allele [A238V;F508del] was 0.04. When the whole data set was used (comprised also of 56 F508del/F508del and 34 F508del/other mutation controls), no differences reached the statistical significance in the clinical parameters, except chloride concentrations which were lower in [A238V;F508del]/other mutation compared with F508del/other mutation (P=0.03). The two study groups presented less complications than the control groups. Within the minimal data set (34 F508del/F508del, 27 F508del/other mutation, 4 [A238V;F508del]/F508del cases and 5 [A238V;F508del]/other mutation cases); that is, presenting all the variables in each patient, forced expiratory volume in 1 s and forced vital capacity presented a trend to lower levels in the study groups in comparison with the F508del/F508del group, and C-reactive protein approximated statistically significant higher levels in the [A238V;F508del]/other mutation as compared with F508del/F508del patients (P=0.09). The analysis of statistical dependence among the variables showed a significant anticorrelation between chloride and body mass index in the [A238V;F508del]/other mutation group. In conclusion, the complex allele [A238V;F508del] seems to be associated with less general complications than in the control groups, on the other hand possibly giving a worse pulmonary phenotype and higher systemic/local inflammatory response. These findings have implications for the correct recruitment and clinical response of F508del patients in the clinical trials testing the new etiological drugs for cystic fibrosis.
77 FR 31032 - National Institute on Aging; Notice of Closed Meetings
Federal Register 2010, 2011, 2012, 2013, 2014
2012-05-24
... applications. Place: Marina del Rey Hotel, 13534 Bali Way, Marina del Rey, CA 90292. Contact Person: Bita... applications. Place: Marina del Rey Hotel, 13534 Bali Way, Marina del Rey, CA 90292. Contact Person: Ramesh... and evaluate grant applications. Place: Marina del Rey Hotel, 13534 Bali Way, Marina del Rey, CA 90292...
Una Red de Expertos en Salud Ambiental de Niños (2015)
Unidades Pediátricas de Especialidad en Salud Ambiental (PEHSU) tiene expertos en pediatria, alergias e inmunologia, desarrollo neural, toxicologia, y otras, ya que existen varios factores que afectan la salud de los ninos.
Your Child's Development: 1.5 Years (18 Months)
... 5 Years (18 Months) Print en español El desarrollo de su hijo: 1,5 años (18 meses) ... takes off some clothes scribbles with a crayon Social and Emotional Development begins to engage in pretend ...
Rizzoli-Córdoba, Antonio; Martell-Valdez, Liliana; Delgado-Ginebra, Ismael; Villasís-Keever, Miguel Ángel; Reyes-Morales, Hortensia; O'Shea-Cuevas, Gabriel; Aceves-Villagrán, Daniel; Carrasco-Mendoza, Joaquín; Villagrán-Muñoz, Víctor Manuel; Halley-Castillo, Elizabeth; Vargas-López, Guillermo; Muñoz-Hernández, Onofre
Evaluación del Desarrollo Infantil or Child Development Evaluation (CDE) test, a screening tool designed and validated in Mexico, classifies child development as normal (green) or abnormal (developmental lag or yellow and risk of delay or red). Population-based results of child development level with this tool are not known. The objective of this work was to evaluate the developmental level of children aged 1-59 months living in poverty (PROSPERA program beneficiaries) through application of the CDE test. CDE tests were applied by specifically trained and standardized personnel to children <5 years old who attended primary care facilities for a scheduled appointment for nutrition, growth and development evaluation from November 2013 to May 2014. There were 5,527 children aged 1-59 months who were evaluated; 83.8% (n=4,632) were classified with normal development (green) and 16.2% (n=895) as abnormal: 11.9% (n=655) as yellow and 4.3% (n=240) as red. The proportion of abnormal results was 9.9% in children <1 year of age compared with 20.8% at 4 years old. The most affected areas according to age were language at 2 years (9.35%) and knowledge at 4 years old (11.1%). Gross motor and social areas were more affected in children from rural areas; fine motor skills, language and knowledge were more affected in males. The proportion of children with abnormal results is similar to other population-based studies. The highest rate in older children reinforces the need for an early-based intervention. The different pattern of areas affected between urban and rural areas suggests the need for a differentiated intervention. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.
Guiberson, Mark; Rodríguez, Barbara L; Dale, Philip S
2011-10-01
The purpose of the current study was to examine the concurrent validity and classification accuracy of 3 parent report measures of language development in Spanish-speaking toddlers. Forty-five Spanish-speaking parents and their 2-year-old children participated. Twenty-three children had expressive language delays (ELDs) as determined through multiple sources of information, and 22 had typical language development (TD). Parents completed the Spanish version of the Ages and Stages Questionnaire (Spanish ASQ; Squires, Potter, & Bricker, 1999) and the short-form of the Inventarios del Desarrollo de Habilidades Comunicativas Palabras y Enunciados (INV-II; Jackson-Maldonado, Bates, & Thal, 1992; Jackson-Maldonado et al., 2003), which is the Spanish version of the MacArthur-Bates Communicative Development Inventories Words and Sentences form, and reported children's 3 longest utterances (M3L-W). Children were administered the Preschool Language Scale, Fourth Edition, Spanish Edition (SPLS-4; Zimmerman, Steiner, & Pond, 2002) at early childhood centers. All 3 parent report measures were significantly correlated with the SPLS-4, establishing their concurrent validity. Children with ELDs scored significantly lower than TD children on all 3 parent report measures. The Spanish ASQ demonstrated less than desirable levels of sensitivity and specificity; both the short-form INV-II and M3L-W measures demonstrated favorable sensitivity and specificity. Of these measures, M3L-W demonstrated the strongest classification accuracy qualities, including sensitivity, negative predictive value, and area under the receiver operating characteristics curve. The short-form INV-II and M3L-W demonstrated highly satisfactory classification accuracy of ELDs, but M3L-W demonstrated slightly stronger accuracy. These results indicate that these measures may be useful in screening for ELDs in Spanish-speaking toddlers.
33 CFR 80.1118 - Marina Del Rey, CA.
Code of Federal Regulations, 2010 CFR
2010-07-01
... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Marina Del Rey, CA. 80.1118...
33 CFR 80.1118 - Marina Del Rey, CA.
Code of Federal Regulations, 2012 CFR
2012-07-01
... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2012-07-01 2012-07-01 false Marina Del Rey, CA. 80.1118...
33 CFR 80.1118 - Marina Del Rey, CA.
Code of Federal Regulations, 2013 CFR
2013-07-01
... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2013-07-01 2013-07-01 false Marina Del Rey, CA. 80.1118...
33 CFR 80.1118 - Marina Del Rey, CA.
Code of Federal Regulations, 2011 CFR
2011-07-01
... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2011-07-01 2011-07-01 false Marina Del Rey, CA. 80.1118...
33 CFR 80.1118 - Marina Del Rey, CA.
Code of Federal Regulations, 2014 CFR
2014-07-01
... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2014-07-01 2014-07-01 false Marina Del Rey, CA. 80.1118...
8th Argentinean Bioengineering Society Conference (SABI 2011) and 7th Clinical Engineering Meeting
NASA Astrophysics Data System (ADS)
Meschino, Gustavo Javier; Ballarin, Virginia L.
2011-12-01
In September 2011, the Eighteenth Edition of the Argentinean Bioengineering Society Conference (SABI 2011) and Seventh Clinical Engineering Meeting were held in Mar del Plata, Argetina. The Mar del Plata SABI Regional and the School of Engineering of the Universidad Nacional de Mar del Plata invited All bioengineers, engineers, physicists, mathematicians, biologists, physicians and health professionals working in the field of Bioengineering to participate in this event. The overall objectives of the Conference were: To provide discussion of scientific research results in Bioengineering and Clinical Engineering. To promote technological development experiences. To strengthen the institutional and scientific communication links in the area of Bioengineering, mainly between Universities of Latin America. To encourage students, teachers, researchers and professionals to establish exchanges of experiences and knowledge. To provide biomedical engineering technology solutions to the society and contributing ideas for low cost care. Conference photograph Conference photograph Conference photograph Conference photograph EXECUTIVE COMMITTEE SABI 2011 Chair Dra Virginia L Ballarin Universidad Nacional de Mar del Plata Co-Chair Dra Teresita R Cuadrado Universidad Nacional de Mar del Plata - CONICET Local Comittee Dr Gustavo Abraham Universidad Nacional de Mar del Plata - CONICET Dra Josefina Ballarre Universidad Nacional de Mar del Plata - CONICET Dr Eduardo Blotta Universidad Nacional de Mar del Plata Dra Agustina Bouchet Universidad Nacional de Mar del Plata Dr Marcel Brun Universidad Nacional de Mar del Plata Dra Silvia Ceré Universidad Nacional de Mar del Plata - CONICET Dra Mariela Azul Gonzalez Universidad Nacional de Mar del Plata - CONICET Dra Lucia Isabel Passoni Universidad Nacional de Mar del Plata Dr Juan Ignacio Pastore Universidad Nacional de Mar del Plata - CONICET Dra Adriana Scandurra Universidad Nacional de Mar del Plata SCIENTIFIC ADVISORY COMMITTEE President Dr Gustavo Meschino Universidad Nacional de Mar del Plata Comittee Dr Gustavo Abraham Universidad Nacional de Mar del Plata - CONICET Mg Rubén Acevedo Universidad Nacional de Entre Ríos Ing Pablo Agüero Universidad Nacional de Mar del Plata Ing Mariela Ambrustolo Universidad Nacional de Mar del Plata Dr Ricardo Armentano Universidad Favaloro Dra Virginia L Ballarin Universidad Nacional de Mar del Plata Dra Josefina Ballarre Universidad Nacional de Mar del Plata - CONICET Dr Eduardo Blotta Universidad Nacional de Mar del Plata Ing Marco Benalcázar Universidad Nacional de Mar del Plata Mg Freddy Geovanny Benalcázar Palacios Escuela Superior Politécnica de Chimborazo, Ecuador Dr Roberto Boeri Universidad Nacional de Mar del Plata - CONICET - INTEMA Dra Agustina Bouchet Universidad Nacional de Mar del Plata Dr Ariel Braidot Universidad Nacional de Entre Ríos Dr Marcel Brun Universidad Nacional de Mar del Plata Dra Silvia Ceré Universidad Nacional de Mar del Plata - CONICET Ing Fernando Clara Universidad Nacional de Mar del Plata Dr Raúl Correa Prado Universidad Nacional de San Juan Bioing Pablo Cortez Universidad Nacional de Mar del Plata Dra Teresita R Cuadrado Universidad Nacional de Mar del Plata - CONICET Ing Eduardo De Forteza Universidad Favaloro Dra Mariana Del Fresno Universidad Nacional del Centro de la Provincia de Buenos Aires Dr Martín Diaz Informática Médica Hospital Aleman de Buenos Aires - GIBBA Ing Julio César Doumecq Universidad Nacional de Mar del Plata Mg Ana María Echenique Universidad Nacional de San Juan Bioing Pedro Escobar Universidad Nacional del Centro, Olavarría, Pcia de Buenos Aires Dr Fernando Daniel Farfán Universidad Nacional de Tucumán Dr Carmelo Felice Universidad Nacional de Tucumán - CONICET Dr Elmer Fernández Universidad Católica de Córdoba - CONICET Ing José Flores Universidad Nacional de Entre Ríos Dr Arturo Gayoso Universidad Nacional de Mar del Plata Dra Bioing Agustina Garcés Universidad Nacional de San Juan ¬- CONICET Bioing Luciano Gentile Universidad Favaloro Mg María Eugenia Gómez Universidad Nacional de San Juan Dr Claudio González Universidad Nacional de Mar del Plata Mg Esteban González Universidad Nacional de Mar del Plata Dra Mariela A Gonzalez Universidad Nacional de Mar del Plata - CONICET Dr Juan Pablo Graffigna Universidad Nacional de San Juan Dra Myriam Herrera Universidad Nacional de Tucumán - CONICET Dr Roberto Hidalgo Universidad Nacional de Mar del Plata Dr Roberto Isoardi Fundación Escuela de Medicina Nuclear de Mendoza - CNEA Dra Susana Jerez Universidad Nacional de Tucumán Dr Eric Laciar Universidad Nacional de San Juan - CONICET Bioing Roberto Leonarduzzi Universidad Nacional de Entre Ríos Mg Norberto Lerendegui Instituto Tecnológico de Buenos Aires Dra Natalia López Universidad Nacional de San Juan - CONICET Dra Rossana Madrid Universidad Nacional de Tucuman - CONICET Ing Florencia Montini Ballarin Universidad Nacional de Mar del Plata - CONICET Dra Emilce Moler Universidad Nacional de Mar del Plata Dr Jorge Castiñieira Moreira Universidad Nacional de Mar del Plata Dr Silvia Murialdo Universidad Nacional de Mar del Plata - CIC Dr Juan Manuel Olivera Universidad Nacional de Tucumán Dra Lucia Isabel Passoni Universidad Nacional de Mar del Plata Dr Juan Ignacio Pastore Universidad Nacional de Mar del Plata - CONICET Dra María Elisa Pérez Universidad Nacional de San Juan Mg Franco M Pessana Universidad Favaloro Dr Julio Politti Universidad Nacional de Tucumán Dr Marcelo Risk Universidad Nacional de Buenos Aires - CONICET Ing Raúl Rivera Universidad Nacional de Mar del Plata Mg Luis Rocha Universidad Nacional de Tucumán - SIPROSA Dra Silvia Rodrigo Universidad Nacional de San Juan Dra Viviana Rotger Universidad Nacional de Tucumán Dr Leonardo Rufiner Universidad Nacional de Entre Rios - CONICET Dra Estela Ruiz Universidad Nacional de Tucumán Dr Martín Santiago Universidad Nacional del Centro de la Provincia de Buenos Aires Dra Adriana Scandurra Universidad Nacional de Mar del Plata Ing Graciela Secreto Universidad Favaloro Mg Pablo Solarz Universidad Nacional de Tucumán Mg Carolina Tabernig Universidad Nacional de Entre Ríos Ing Ricardo Taborda Universidad Nacional de Córdoba Dra María Eugenia Torres Universidad Nacional de Entre Ríos - CONICET Ing Juan Carlos Tulli Universidad Nacional de Mar del Plata Dr Gerardo Tusman Hospital Privado de Comunidad, Mar del Plata Dr Santiago Urquiza Universidad Nacional de Mar del Plata Mg Andrés Valdez Universidad Nacional de San Juan Dr Máximo Valentinuzzi INSIBIO - CONICET - Universidad Nacional de Tucumán
Two Desmin Gene Mutations Associated with Myofibrillar Myopathies in Polish Families
Berdynski, Mariusz; Sikorska, Agata; Filipek, Slawomir; Redowicz, Maria Jolanta; Kaminska, Anna; Zekanowski, Cezary
2014-01-01
Desmin is a muscle-specific intermediate filament protein which forms a network connecting the sarcomere, T tubules, sarcolemma, nuclear membrane, mitochondria and other organelles. Mutations in the gene coding for desmin (DES) cause skeletal myopathies often combined with cardiomyopathy, or isolated cardiomyopathies. The molecular pathomechanisms of the disease remain ambiguous. Here, we describe and comprehensively characterize two DES mutations found in Polish patients with a clinical diagnosis of desminopathy. The study group comprised 16 individuals representing three families. Two mutations were identified: a novel missense mutation (Q348P) and a small deletion of nine nucleotides (A357_E359del), previously described by us in the Polish population. A common ancestry of all the families bearing the A357_E359del mutation was confirmed. Both mutations were predicted to be pathogenic using a bioinformatics approach, including molecular dynamics simulations which helped to rationalize abnormal behavior at molecular level. To test the impact of the mutations on DES expression and the intracellular distribution of desmin muscle biopsies were investigated. Elevated desmin levels as well as its atypical localization in muscle fibers were observed. Additional staining for M-cadherin, α-actinin, and myosin heavy chains confirmed severe disruption of myofibrill organization. The abnormalities were more prominent in the Q348P muscle, where both small atrophic fibers as well large fibers with centrally localized nuclei were observed. We propose that the mutations affect desmin structure and cause its aberrant folding and subsequent aggregation, triggering disruption of myofibrils organization. PMID:25541946
Burmester, James K; Bell, Lauren N; Cross, Deanna; Meyer, Patrick; Yale, Steven H
2016-10-01
Menetrier's disease (MD) is a rare disease with unknown aetiology, characterized by hypertrophic folds within the fundus and body of the stomach. We investigated mutations of the candidate genes SMAD4, BMPR1A, TGF-α, and PDX1 within a family with MD. A large 4-generation family with MD was identified. This family had 5 cases of MD, 1 case of MD and juvenile polyposis syndrome (JPS) and 3 cases of JPS. Participants provided saliva for DNA extraction and completed a health questionnaire designed to assess conditions that may be found in patients with MD. Following pedigree analysis, we sequenced the coding regions of the SMAD4 and BMPR1A genes and the regulatory regions of the TGF-α and PDX1 genes in affected and non-affected family members. No mutations were identified in the sequenced regions of BMPR1A, TGF-α, or PDX1. A dominant 1244_1247delACAG mutation of SMAD4 was identified in each of the subjects with JPS as well as in each of the subjects with MD. Although this mutation segregated with disease, there were also unaffected/undiagnosed carriers. The 1244_1247delACAG mutation of SMAD4 is the cause of JPS and the likely cause of MD in a large family initially diagnosed with MD. Copyright © 2016 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.
Jiang, Y; Chen, H-C; Su, X; Thompson, P A; Liu, X; Do, K-A; Wierda, W; Keating, M J; Plunkett, W
2016-09-02
Approximately 10-20% of chronic lymphocytic leukemia (CLL) patients exhibit del(11q22-23) before treatment, this cohort increases to over 40% upon progression following chemoimmunotherapy. The coding sequence of the DNA damage response gene, ataxia-telangiectasia-mutated (ATM), is contained in this deletion. The residual ATM allele is frequently mutated, suggesting a relationship between gene function and clinical response. To investigate this possibility, we sought to develop and validate an assay for the function of ATM protein in these patients. SMC1 (structural maintenance of chromosomes 1) and KAP1 (KRAB-associated protein 1) were found to be unique substrates of ATM kinase by immunoblot detection following ionizing radiation. Using a pool of eight fluorescence in situ hybridization-negative CLL samples as a standard, the phosphorylation of SMC1 and KAP1 from 46 del (11q22-23) samples was analyzed using normal mixture model-based clustering. This identified 13 samples (28%) that were deficient in ATM function. Targeted sequencing of the ATM gene of these samples, with reference to genomic DNA, revealed 12 somatic mutations and 15 germline mutations in these samples. No strong correlation was observed between ATM mutation and function. Therefore, mutation status may not be taken as an indicator of ATM function. Rather, a direct assay of the kinase activity should be used in the development of therapies.
Moriyama, Takaya; Yang, Yung-Li; Nishii, Rina; Ariffin, Hany; Liu, Chengcheng; Lin, Ting-Nien; Yang, Wenjian; Lin, Dong-Tsamn; Yu, Chih-Hsiang; Kham, Shirley; Pui, Ching-Hon; Evans, William E; Jeha, Sima; Relling, Mary V; Yeoh, Allen Eng-Juh; Yang, Jun J
2017-09-07
Prolonged exposure to thiopurines (eg, mercaptopurine [MP]) is essential for curative therapy in acute lymphoblastic leukemia (ALL), but is also associated with frequent dose-limiting hematopoietic toxicities, which is partly explained by inherited genetic polymorphisms in drug metabolizing enzymes (eg, TPMT ). Recently, our group and others identified germ line genetic variants in NUDT15 as another major cause of thiopurine-related myelosuppression, particularly in Asian and Hispanic people. In this article, we describe 3 novel NUDT15 coding variants (p.R34T, p.K35E, and p.G17_V18del) in 5 children with ALL enrolled in frontline protocols in Singapore, Taiwan, and at St. Jude Children's Research Hospital. Patients carrying these variants experienced significant toxicity and reduced tolerance to MP across treatment protocols. Functionally, all 3 variants led to partial to complete loss of NUDT15 nucleotide diphosphatase activity and negatively influenced protein stability. In particular, the p.G17_V18del variant protein showed extremely low thermostability and was completely void of catalytic activity, thus likely to confer a high risk of thiopurine intolerance. This in-frame deletion was only seen in African and European patients, and is the first NUDT15 risk variant identified in non-Asian, non-Hispanic populations. In conclusion, we discovered 3 novel loss-of-function variants in NUDT15 associated with MP toxicity, enabling more comprehensive pharmacogenetics-based thiopurine dose adjustments across diverse populations. © 2017 by The American Society of Hematology.
NASA Astrophysics Data System (ADS)
Martins, Bruno Andrade; Langhi, Rodolfo
2012-12-01
This paper presents one of the concepts of Astronomy and its consequent failure in teaching this topic in high school, even when the official documents point out the necessity of Astronomy teaching at this school level. Among the spontaneous conceptions in Astronomy that high school students carry with them, even after the end of the school, we emphasized in this research the Moon phases. The development of different strategies in relation to traditional methods, aimed to teaching-learning process on this topic was considered in this study. These strategies were devised based on the reference frame of the Meaningful Learning, as elaborated by Ausubel. The proposals presented here include the active participation of students in experimental activities and other didactic activities, for their continuous evaluation during the process. These activities finished with a Comics elaboration about the Moon phases. Therefore, the objective of this paper is to present a proposal for differentiated teaching activity about Moon phases supported by the theoretical principles of Meaningful Learning at Physics classes. Este texto foca um dos conteúdos de Astronomia e a consequente falha no ensino deste tema no ensino médio, apesar de os documentos oficiais apresentarem a necessidade de se trabalhar a Astronomia neste nível de ensino. Dentre as concepções alternativas em Astronomia que os alunos do ensino médio carregam consigo, mesmo após o término dos estudos, destacamos, nesta pesquisa, o fenômeno das fases da Lua. O desenvolvimento de estratégias diferenciadas em relação ao ensino tradicional, visando o processo de ensino-aprendizagem sobre este tema, foi contemplado neste trabalho como um dos resultados obtidos sob a luz dos referenciais da aprendizagem significativa, fundamentados em Ausubel. Segundo a proposta aqui apresentada, a participação ativa dos alunos na execução de uma atividade experimental e outras atividades didáticas, que visam sua contínua avaliação durante o processo, culmina com a elaboração de uma história em quadrinhos envolvendo as fases da Lua. Portanto, o objetivo deste trabalho é apresentar uma proposta de atividade didática diferenciada sustentada pelos princípios teóricos da aprendizagem significativa aplicada ao ensino das fases da Lua durante as aulas de Física no ensino médio. En este trabajo se presenta uno de los contenidos de la Astronomía y el evidente fracaso en la enseñanza del tema en la escuela secundaria, a pesar del hecho que los documentos oficiales apuntan para la necesidad de trabajar contenidos de Astronomía en este nivel. Entre los conceptos alternativos en Astronomía que los alumnos secundarios llevan consigo, aún después de terminados los estudios, destacamos aquí el fenómeno de las fases de la Luna. El desarrollo de diferentes estrategias en relación con los métodos tradicionales, dirigidas al proceso de enseñanza-aprendizaje en este tema fue considerado en este trabajo como uno de los resultados obtenidos a la luz de los referenciales del aprendizaje significativo, tal como fueron fundamentados por Ausubel. Según la propuesta que aquí se presenta, la participación activa de los estudiantes en la ejecución de una actividad experimental y otras actividades educativas destinadas a la evaluación continua durante el proceso culminó en la elaboración de una historieta respecto de las fases de la Luna. Por lo tanto, el objetivo de este trabajo es presentar una propuesta de actividad de enseñanza diferenciada con el apoyo de los principios teóricos del aprendizaje significativo aplicado a la enseñanza de las fases de la luna durante las clases de física del ciclo secundario.
Spatial patterns of carbon, biodiversity, deforestation threat, and REDD+ projects in Indonesia
Murray, Josil P; Grenyer, Richard; Wunder, Sven; Raes, Niels; Jones, Julia PG
2015-01-01
There are concerns that Reduced Emissions from Deforestation and forest Degradation (REDD+) may fail to deliver potential biodiversity cobenefits if it is focused on high carbon areas. We explored the spatial overlaps between carbon stocks, biodiversity, projected deforestation threats, and the location of REDD+ projects in Indonesia, a tropical country at the forefront of REDD+ development. For biodiversity, we assembled data on the distribution of terrestrial vertebrates (ranges of amphibians, mammals, birds, reptiles) and plants (species distribution models for 8 families). We then investigated congruence between different measures of biodiversity richness and carbon stocks at the national and subnational scales. Finally, we mapped active REDD+ projects and investigated the carbon density and potential biodiversity richness and modeled deforestation pressures within these forests relative to protected areas and unprotected forests. There was little internal overlap among the different hotspots (richest 10% of cells) of species richness. There was also no consistent spatial congruence between carbon stocks and the biodiversity measures: a weak negative correlation at the national scale masked highly variable and nonlinear relationships island by island. Current REDD+ projects were preferentially located in areas with higher total species richness and threatened species richness but lower carbon densities than protected areas and unprotected forests. Although a quarter of the total area of these REDD+ projects is under relatively high deforestation pressure, the majority of the REDD+ area is not. In Indonesia at least, first-generation REDD+ projects are located where they are likely to deliver biodiversity benefits. However, if REDD+ is to deliver additional gains for climate and biodiversity, projects will need to focus on forests with the highest threat to deforestation, which will have cost implications for future REDD+ implementation. Los Patrones Espaciales del Carbono, la Biodiversidad, la Amenaza de Deforestación y los Proyectos REDD+ en Indonesia Resumen Actualmente hay preocupación por que las Emisiones Reducidas de la Deforestación y Degradación del Bosque (REDD+, en inglés) puedan fallar en la entrega de co–beneficios potenciales de la biodiversidad si se enfocan en áreas de alto carbono. Exploramos los traslapes espaciales entre los stocks de carbono, la biodiversidad, las amenazas proyectadas de deforestación y la ubicación de proyectos REDD+ en Indonesia, un país tropical a la vanguardia del desarrollo REDD+. Para la biodiversidad, reunimos datos sobre la distribución de vertebrados terrestres (hábitats de anfibios, mamíferos, aves y reptiles) y plantas (modelos de distribución de especies para ocho familia). Después investigamos la congruencia entre las diferentes medidas de la riqueza de la biodiversidad y los stocks de carbono en la escala nacional y sub–nacional. Finalmente mapeamos proyectos REDD+ activos e investigamos la densidad de carbono y la riqueza potencial de la biodiversidad y modelamos presiones de deforestación dentro de estos bosques en relación con áreas protegidas y no protegidas. Hubo poco traslape interno entre los diferentes hotspots (el 10% más rico de las celdas) de riqueza de especies. Tampoco hubo congruencia espacial consecuente entre los stocks de carbono y las medidas de la biodiversidad: una correlación negativa débil en la escala nacional enmascaró las relaciones altamente variables y no-lineales isla por isla. Los proyectos REDD+ actuales estuvieron ubicados preferencialmente en áreas con una riqueza total de especies y con una riqueza de especies amenazadas más altas pero con densidades de carbono más bajas que en las áreas protegidas y los bosques sin protección. Aunque un cuarto del área total de estos proyectos REDD+ está bajo una presión de deforestación relativamente alta, la mayoría del área REDD+ no lo está. Por lo menos en Indonesia, los proyectos REDD+ de primera generación están ubicados en donde tengan probabilidad de entregar beneficios para la biodiversidad. Sin embargo, si se espera que REDD+ entregue beneficios adicionales para el clima y la biodiversidad, los proyectos necesitarán enfocarse en los bosques con la mayor amenaza de deforestación, lo que tendrá implicaciones de costo para la implementación futura de REDD+. PMID:25864538
NASA Astrophysics Data System (ADS)
Giovannini, Odilon; Pellenz, Daiana; Catelli, Francisco
2014-07-01
This work presents the elaboration of an answer to the question "Is the dark side of the moon ever illuminated by the sun?", in which issues related to the students' conceptions, how they arise, and the core elements that constitute a "good answer" are considered. These issues are initially elaborated from a literature review of the research in the field; then, and also based on this review, a didactic model that involves the relative motions of the Earth - Moon - Sun system is proposed. A description of the application of this model in a learning environment within middle school students is described. This work confirms the students' initial concepts described in the literature; on the other hand, the questions asked by students during the activity provide evidence that meaningful learning, at least to some degree, has occurred. Este trabalho apresenta a elaboração de uma resposta à pergunta "O lado escuro da Lua nunca apanha sol?" na qual são consideradas questões relacionadas às concepções iniciais dos alunos, de onde elas surgem e os elementos centrais que constituem uma "boa resposta". Essas questões são tratadas, inicialmente, a partir de uma revisão da literatura sobre pesquisas na área e, em seguida, também com base nessa revisão, um objeto modelo didático que envolve os movimentos relativos do sistema Terra - Lua - Sol é proposto. Uma descrição detalhada da aplicação deste modelo em um ambiente de aprendizagem com alunos do ensino fundamental é relatada. As concepções iniciais apresentadas na literatura se confirmam e os questionamentos feitos pelos estudantes por ocasião da aplicação do modelo fornecem indícios de que uma aprendizagem significativa, pelo menos em algum grau, ocorreu. El artículo se presenta el desarrollo de una respuesta a la pregunta "¿El lado oscuro de la luna nunca toma sol?", en la que se consideran algunas cuestiones vinculadas que se refieren a las concepciones iniciales de los estudiantes, dónde surgen y los elementos básicos que componen una "respuesta correcta". Estas cuestiones se tratan inicialmente a partir de una revisión bibliográfica de la investigación en el área; seguidamente, y también sobre la base de ésta revisión, se propone un modelo didáctico que ejemplifica los movimientos relativos del sistema Tierra - Luna - Sol. Se describe a continuación una aplicación de este modelo en un entorno de aprendizaje con alumnos del ciclo primario. Los conceptos iniciales presentados en la literatura se confirman y las cuestiones planteadas por los estudiantes durante la implementación del modelo proporcionan evidencia de que se ha producido un aprendizaje significativo, al menos en cierta medida.
Mitzelfelt, Katie A.; Limphong, Pattraranee; Choi, Melinda J.; Kondrat, Frances D. L.; Lai, Shuping; Kolander, Kurt D.; Kwok, Wai-Meng; Dai, Qiang; Grzybowski, Michael N.; Zhang, Huali; Taylor, Graydon M.; Lui, Qiang; Thao, Mai T.; Hudson, Judith A.; Barresi, Rita; Bushby, Kate; Jungbluth, Heinz; Wraige, Elizabeth; Geurts, Aron M.; Benesch, Justin L. P.; Riedel, Michael; Christians, Elisabeth S.; Minella, Alex C.; Benjamin, Ivor J.
2016-01-01
Mutations of HSPB5 (also known as CRYAB or αB-crystallin), a bona fide heat shock protein and molecular chaperone encoded by the HSPB5 (crystallin, alpha B) gene, are linked to multisystem disorders featuring variable combinations of cataracts, cardiomyopathy, and skeletal myopathy. This study aimed to investigate the pathological mechanisms involved in an early-onset myofibrillar myopathy manifesting in a child harboring a homozygous recessive mutation in HSPB5, 343delT. To study HSPB5 343delT protein dynamics, we utilize model cell culture systems including induced pluripotent stem cells derived from the 343delT patient (343delT/343delT) along with isogenic, heterozygous, gene-corrected control cells (WT KI/343delT) and BHK21 cells, a cell line lacking endogenous HSPB5 expression. 343delT/343delT and WT KI/343delT-induced pluripotent stem cell-derived skeletal myotubes and cardiomyocytes did not express detectable levels of 343delT protein, contributable to the extreme insolubility of the mutant protein. Overexpression of HSPB5 343delT resulted in insoluble mutant protein aggregates and induction of a cellular stress response. Co-expression of 343delT with WT prevented visible aggregation of 343delT and improved its solubility. Additionally, in vitro refolding of 343delT in the presence of WT rescued its solubility. We demonstrate an interaction between WT and 343delT both in vitro and within cells. These data support a loss-of-function model for the myopathy observed in the patient because the insoluble mutant would be unavailable to perform normal functions of HSPB5, although additional gain-of-function effects of the mutant protein cannot be excluded. Additionally, our data highlight the solubilization of 343delT by WT, concordant with the recessive inheritance of the disease and absence of symptoms in carrier individuals. PMID:27226619
Proyecto para la medición sistemática de seeing en CASLEO
NASA Astrophysics Data System (ADS)
Fernández Lajus, E.; Forte, J. C.
La calidad del seeing astronómico es ciertamente uno de los parámetros mas importantes que caracterizan el sitio de un observatorio. Por tanto se desea determinar si el alto valor de seeing observado con el telescopio de 2.15 m se debe a efectos internos y/o del entorno a la cupula o si se debe simplemente al seeing propio del lugar. El actual mecanismo de refrigeración del espejo primario del 2.15, parece haber mejorado notablemente la calidad del seeing. Sin embargo se hace necesario saber hasta que punto el valor del seeing puede ser mejorado. La primera etapa del proyecto consistió en la puesta a punto del telescopio emplazado para este propósito y la adquisición de las primeras medidas tentativas de seeing.
ERIC Educational Resources Information Center
LaGreca, Nancy
2012-01-01
This study explores the intertextuality between Aurora Caceres's "La rosa muerta" (1914) and the novel "Del amor, del dolor y del vicio" (1898) by her ex-husband, Enrique Gomez Carrillo. Caceres strategically mentions Gomez Carrillo's novel in "La rosa muerta" to invite a reading of her work in dialogue with his. Both narratives follow the sexual…
Yanovski, J A; Diament, A L; Sovik, K N; Nguyen, T T; Li, H; Sebring, N G; Warden, C H
2000-06-01
Little is known about genes that affect childhood body weight. The objective of this study was to examine the association between alleles of the mitochondrial uncoupling protein 2 (UCP2) gene and obesity because UCP2 may influence energy expenditure. We related UCP2 genotype to body composition and resting energy expenditure in 105 children aged 6-10 y. Overweight children and nonoverweight children of overweight parents were genotyped for a 45-base pair deletion/insertion (del/ins) in 3'-untranslated region of exon 8 and for an exon 4 C to T transition. Eighty-nine children were genotyped for the exon 8 allele: 50 children had del/del, 33 had del/ins, and 6 had ins/ins. Mean (+/-SD) body mass index (BMI; in kg/m(2)) was greater for children with del/ins (24.1 +/- 5.9) than for children with del/del (20.4 +/- 4.8; P < 0.001). BMI of ins/ins children (23.7 +/- 7.8) was not significantly different from that of del/ins children. A greater BMI in del/ins children was independent of race and sex. Body composition was also different according to UCP2 genotype. All body circumferences and skinfold thicknesses examined were significantly greater in del/ins than in del/del children. Body fat mass as determined by dual-energy X-ray absorptiometry was also greater in del/ins than in del/del children (P < 0.005). For 104 children genotyped at exon 4, no significant differences in BMI or body composition were found among the 3 exon 4 genotypes. Neither resting energy expenditure nor respiratory quotient were different according to UCP2 exon 4 or exon 8 genotype. The exon 8 ins/del polymorphism of UCP2 appears to be associated with childhood-onset obesity. The UCP2/UCP3 genetic locus may play a role in childhood body weight.
Plouff, Donald
2000-01-01
Gravity observations are directly made or are obtained from other sources by the U.S. Geological Survey in order to prepare maps of the anomalous gravity field and consequently to interpret the subsurface distribution of rock densities and associated lithologic or geologic units. Observations are made in the field with gravity meters at new locations and at reoccupations of previously established gravity "stations." This report illustrates an interactively-prompted series of steps needed to convert gravity "readings" to values that are tied to established gravity datums and includes computer programs to implement those steps. Inasmuch as individual gravity readings have small variations, gravity-meter (instrument) drift may not be smoothly variable, and acommodations may be needed for ties to previously established stations, the reduction process is iterative. Decision-making by the program user is prompted by lists of best values and graphical displays. Notes about irregularities of topography, which affect the value of observed gravity but are not shown in sufficient detail on topographic maps, must be recorded in the field. This report illustrates ways to record field notes (distances, heights, and slope angles) and includes computer programs to convert field notes to gravity terrain corrections. This report includes approaches that may serve as models for other applications, for example: portrayal of system flow; style of quality control to document and validate computer applications; lack of dependence on proprietary software except source code compilation; method of file-searching with a dwindling list; interactive prompting; computer code to write directly in the PostScript (Adobe Systems Incorporated) printer language; and high-lighting the four-digit year on the first line of time-dependent data sets for assured Y2K compatibility. Computer source codes provided are written in the Fortran scientific language. In order for the programs to operate, they first must be converted (compiled) into an executable form on the user's computer. Although program testing was done in a UNIX (tradename of American Telephone and Telegraph Company) computer environment, it is anticipated that only a system-dependent date-and-time function may need to be changed for adaptation to other computer platforms that accept standard Fortran code.d del iliscipit volorer sequi ting etue feum zzriliquatum zzriustrud esenibh ex esto esequat.
ERIC Educational Resources Information Center
Mattenella, L. E.; Velazco, J. W.
1992-01-01
This article briefly describes the development of bibliographic retrieval systems in the Instituto de Beneficio di Minerales (IN BE MI) in Salta, Argentina, using the Mini-micro CDS/ISIS software developed by Unesco. (LRW)
North America - The Energy Picture II
2006-01-01
Desarrollo Urbano), of the National Urban System ( Sistema Urbano Nacional), and of the specific urban North America – The Energy Picture II...and guide for participants in international electricity trade. In January 2005, the Group released a companion to the 2002 electricity report, the
Richard's, María M; Introzzi, Isabel; Zamora, Eliana; Vernucci, Santiago
2017-01-01
Inhibition is one of the main executive functions, because of its fundamental role in cognitive and social development. Given the importance of reliable and computerized measurements to assessment inhibitory performance, this research intends to analyze the internal and external criteria of validity of a computerized conjunction search task, to evaluate the role of perceptual inhibition. A sample of 41 children (21 females and 20 males), aged between 6 and 11 years old (M = 8.49, SD = 1.47), intentionally selected from a private management school of Mar del Plata (Argentina), middle socio-economic level were assessed. The Conjunction Search Task from the TAC Battery, Coding and Symbol Search tasks from Wechsler Intelligence Scale for Children were used. Overall, results allow us to confirm that the perceptual inhibition task form TAC presents solid rates of internal and external validity that make a valid measurement instrument of this process.
[Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene].
Li, Hongbo; Zhang, Xu; Li, Zhenyue; Chen, Jing; Lu, Yu; Jia, Jingjie; Yuan, Huijun; Han, Dongyi
2012-05-01
To analyze the clinical and genetic features of a patient with Treacher Collins syndrome (TCS), and identify the mutation in TCOF1 gene. The medical history was taken, and general physical examinations and otological examinations were conducted in this patient. Genomic DNA was extracted from this patient and his parents and complete TCOF1 gene coding exons were amplified by specific PCR primers. Direct sequencing was carried out to identify the mutations. The raw data was analyzed with GeneTool software and molecular biological website. We detected a heterozygous c. 1639 delAG mutation in exon 11 of TCOF1, which resulted in a truncated protein lacking normal function. This mutation is a novel mutation and the second case identified in exon 11 of in TCS. TCS patient reported in this study has unique clinical phenotype. TCOF1 gene mutation is the specific risk factor.
Maekawa, Tomoki; Hosur, Kavita; Abe, Toshiharu; Kantarci, Alpdogan; Ziogas, Athanasios; Wang, Baomei; Van Dyke, Thomas E; Chavakis, Triantafyllos; Hajishengallis, George
2015-09-16
Del-1 is an endothelial cell-secreted anti-inflammatory protein. In humans and mice, Del-1 expression is inversely related to that of IL-17, which inhibits Del-1 through hitherto unidentified mechanism(s). Here we show that IL-17 downregulates human endothelial cell expression of Del-1 by targeting a critical transcription factor, C/EBPβ. Specifically, IL-17 causes GSK-3β-dependent phosphorylation of C/EBPβ, which is associated with diminished C/EBPβ binding to the Del-1 promoter and suppressed Del-1 expression. This inhibitory action of IL-17 can be reversed at the GSK-3β level by PI3K/Akt signalling induced by D-resolvins. The biological relevance of this regulatory network is confirmed in a mouse model of inflammatory periodontitis. Intriguingly, resolvin-D1 (RvD1) confers protection against IL-17-driven periodontal bone loss in a Del-1-dependent manner, indicating an RvD1-Del-1 axis against IL-17-induced pathological inflammation. The dissection of signalling pathways regulating Del-1 expression provides potential targets to treat inflammatory diseases associated with diminished Del-1 expression, such as periodontitis and multiple sclerosis.
[Quality dimensions focused on the healthcare protocol Infarction Code (Código Infarto)].
Arriaga-Dávila, Jesús; Pérez-Rodríguez, Gilberto; Borrayo-Sánchez, Gabriela
2017-01-01
The Código Infarto (Infarction Code) strategy is part of the comprehensive care program "A Todo Corazón" (To All Heart), whose aim is to reinforce the prevention and health care of cardiovascular diseases. Mexico faces a big challenge, since it is the country with greater mortality secondary to acute myocardial infarction (AMI) in the first 30 days in patients of 45 years or older (28% compared with 7.9% of the average). In addition, Mexico's population has a high prevalence of risk factors (hypertension, diabetes, tobacco use, dyslipidemias, overweight, and obesity). It is for these reasons that 18 months ago the Instituto Mexicano del Seguro Social (IMSS) implemented the first care protocol for patients with AMI, called Código Infarto, whose main aim is to guarantee the diagnosis and treatment of patients with AMI, so that they can receive, once they are admitted at IMSS emergency rooms, primary angioplasty in less than 90 minutes, or fibrinolytic therapy in less than 30 minutes. The quality focus in the Código Infarto strategy has six main dimensions: security, effectiveness, its focus on the patient, opportune, efficient, and [it offers] equitable [treatment]. The implementation of Código Infarto in IMSS is the first institutional strategy to face the leading cause of death in our country and it has produced up until now very encouraging results.
Chandramohan, Bathrachalam; Renieri, Carlo; La Manna, Vincenzo; La Terza, Antonietta
2015-01-01
The objectives of the present study were to characterize the MC1R gene, its transcripts and the single nucleotide polymorphisms (SNPs) associated with coat color in alpaca. Full length cDNA amplification revealed the presence of two transcripts, named as F1 and F2, differing only in the length of their 5'-terminal untranslated region (UTR) sequences and presenting a color specific expression. Whereas the F1 transcript was common to white and colored (black and brown) alpaca phenotypes, the shorter F2 transcript was specific to white alpaca. Further sequencing of the MC1R gene in white and colored alpaca identified a total of twelve SNPs; among those nine (four silent mutations (c.126C>A, c.354T>C, c.618G>A, and c.933G>A); five missense mutations (c.82A>G, c.92C>T, c.259A>G, c.376A>G, and c.901C>T)) were observed in coding region and three in the 3'UTR. A 4 bp deletion (c.224 227del) was also identified in the coding region. Molecular segregation analysis uncovered that the combinatory mutations in the MC1R locus could cause eumelanin and pheomelanin synthesis in alpaca. Overall, our data refine what is known about the MC1R gene and provides additional information on its role in alpaca pigmentation.
Meyer, Thomas; Pankuweit, Sabine; Richter, Anette; Maisch, Bernhard; Ruppert, Volker
2013-09-15
Hypertrophic cardiomyopathy (HCM) is a cardiovascular disease with autosomal dominant inheritance caused by mutations in genes coding for sarcomeric and/or regulatory proteins expressed in cardiomyocytes. In a small cohort of HCM patients (n=8), we searched for mutations in the two most common genes responsible for HCM and found four missense mutations in the MYH7 gene encoding cardiac β-myosin heavy chain (R204H, M493V, R719W, and R870H) and three mutations in the myosin-binding protein C3 gene (MYBPC3) including one missense (A848V) and two frameshift mutations (c.3713delTG and c.702ins26bp). The c.702ins26bp insertion resulted from the duplication of a 26-bp fragment in a 54-year-old female HCM patient presenting with clinical signs of heart failure due to diastolic dysfunction. Although such large duplications (>10 bp) in the MYBPC3 gene are very rare and have been identified only in 4 families reported so far, the identical duplication mutation was found earlier in a Dutch patient, demonstrating that it may constitute a hitherto unknown founder mutation in central European populations. This observation underscores the significance of insertions into the coding sequence of the MYBPC3 gene for the development and pathogenesis of HCM. © 2013 Elsevier B.V. All rights reserved.
Kwon, Dong H; Sandler, S G; Flegel, Willy A
2017-09-01
DEL red blood cells (RBCs) type as D- by routine serologic methods and are transfused routinely, without being identified as expressing a very weak D antigen, to D- recipients. DEL RBCs are detected only by adsorption and elution of anti-D or by molecular methods. Most DEL phenotypes have been reported in population studies conducted in East Asia, although DEL phenotypes have been detected also among Caucasian individuals. Approximately 98 percent of DEL phenotypes in East Asians are associated with the RHD*DEL1 or RHD*01EL.01 allele. The prevalence of DEL phenotypes has been reported among D- Han Chinese (30%), Japanese (28%), and Korean (17%) populations. The prevalence of DEL phenotypes is significantly lower among D- Caucasian populations (0.1%). Among the 3-5 percent of African individuals who are D-, there are no reports of the DEL phenotype. Case reports from East Asia indicate that transfusion of DEL RBCs to D- recipients has been associated with D alloimmunization. East Asian immigrants constitute 2.1 percent of the 318.9 million persons residing in the United States, and an estimated 2.8 percent are blood donors. Using these statistics, we estimate that 68-683 units of DEL RBCs from donors of East Asian ancestry are transfused as D- annually in the United States. Given the reports from East Asia of D alloimmunization attributed to transfusion of DEL RBCs, one would expect an occasional report of D alloimmunization in the United States following transfusion of DEL RBCs to a D- recipient. If such cases do occur, the most likely reason that they are not detected is the absence of active post-transfusion monitoring for formation of anti-D.
Modelo analítico del efecto de PRS sobre satélites GPS
NASA Astrophysics Data System (ADS)
Meza, A.; Brunini, C.; Usandivaras, J. C.
El sistema GPS (Global Position System) es, hoy en día, la herramienta de navegación y posicionamiento más potente y lo será sin duda en la próxima década. Gran parte de su valiosa utilidad se debe a la alta precisión que permite lograr y ésta, a su vez, depende, entre otras causas, de la precisión con que se conocen las órbitas de los satélites. La presión de radiación solar (PRS) fija el límite de la precisión con que pueden calcularse en la actualidad las efemérides satelitarias. El objetivo de este trabajo es proponer una mejor resolución de este fenómeno. El modelo analítico aquí presentado, se basa en el análisis del comportamiento de los residuos de un ajuste por mínimos cuadrados en el que se utiliza el modelo de PRS propuesto por Beutler. El mismo consiste en un modelo determinista del fenómeno con dos parámetros libres. Los resultados obtenidos ponen de manifiesto que, aún después de aplicar dichos parámetros, prevalecen en los residuos efectos semidiurnos en las componentes radial,tangencial y normal. Estos resultados obtenidos se comparan con los de un trabajo desarrollado por el Instituto de Berne (Beutler et al., 1994), en el que se utilizaron como pseudo-observaciones las órbitas precisas del IGS (CODE). El intervalo de integración escogido por este centro fueron las semanas 680 y 681. En resumen se tienen arcos de 14 días para todos los satélites, donde las efemérides precisas de los mismos para los 14 días fueron utilizados como pseudo-observaciones. El modelo de fuerza que empleó dicho centro fue básicamente el tradicional en lo que respecta al modelo de las fuerzas gravitacionales, y para la PRS utilizo el modelo standard de Beutler. Los parámetros de este modelo junto con las 6 condiciones iniciales (posición y velocidad) fueron ajustados por el método general de mínimos cuadrados. Los residuos en la componente radial, tangencial y normal, para los satélites con un buen comportamiento, presentan una componente semidiurna. El modelo analítico planteado en este trabajo, predice el comportamiento de los residuos que se observan en las publicaciones más recientes. Esto abre el camino para plantear una estimación distinta de las incógnitas del problema, basado en el método de colocación por mínimos cuadrados. Ello requiere modelar estadísticamente la señal debida a las componentes de la PRS que no son tomadas en cuenta en el modelo determinista.
Universal Health Coverage through Community Nursing Services: China vs. Hong Kong.
Chan, Wai Yee; Fung, Ita M; Chan, Eric
2017-01-30
this article looks at how the development of community nursing services in China and Hong Kong can enhance universal health coverage. literature and data review have been utilized in this study. nursing services have evolved much since the beginning of the nursing profession. The development of community nursing services has expanded the scope of nursing services to those in need of, not just hospital-level nursing care, but more holistic care to improve health and quality of life. despite the one-country-two-systems governance and the difference in population and geography, Hong Kong and China both face the aging population and its complications. Community nursing services help to pave the road to Universal Health Coverage. este artigo analisa a forma como o desenvolvimento de serviços de enfermagem comunitários na China e Hong Kong pode melhorar a cobertura universal de saúde. literatura e revisão de dados foram utilizados neste estudo. serviços de enfermagem têm evoluído muito desde o início da profissão de enfermagem. O desenvolvimento dos serviços de enfermagem da comunidade ampliou o escopo dos serviços de enfermagem, para aqueles que precisam não apenas de cuidados de enfermagem de nível de hospital, mas cuidados mais holísticos para melhorar a saúde e qualidade de vida. apesar de ser "um-país-dois-sistemas" de governo, e as diferenças de população e geografia, Hong Kong e China enfrentam o envelhecimento da população e suas complicações. Os serviços de enfermagem da comunidade ajudam a pavimentar o caminho para a cobertura de saúde universal. este artículo analiza cómo el desarrollo de los servicios de enfermería comunitaria en China y Hong Kong pueden expandir la cobertura universal de salud. revisión de datos y literatura han sido utilizados en este estudio. los servicios de enfermería han evolucionado mucho desde el comienzo de la profesión. El desarrollo de los servicios de enfermería comunitaria han ampliado el alcance de los servicios de enfermería a las personas que necesitan, no sólo en cuidados de enfermería en el hospital, sino también en una atención más integral para mejorar la salud y calidad de vida. a pesar del tipo de gobierno "un país, dos sistemas" y las diferencias de población y geografía, Hong Kong y China se enfrentan al envejecimiento de la población y sus complicaciones. Los servicios de enfermería comunitaria ayudan a allanar el camino hacia la cobertura universal de salud.
Yanovski, J.A.; Diament, A.L.; Sovik, K.N.; Nguyen, T.T.; Li, H.; Sebring, N.G.; Warden, C.H.
2015-01-01
Background Little is known about genes affecting childhood body weight. Objective To examine alleles of the mitochondrial uncoupling protein-2 (UCP2) gene for association with obesity, since UCP2 may influence energy expenditure. Design We related UCP2 genotype to body composition, and to resting energy expenditure, in 105 children aged 6–10y. Overweight children and non-overweight children of overweight parents were genotyped for a 45 bp deletion/insertion (del/ins) in 3’ UTR of exon 8 and for an exon 4 C to T transition. Results 89 children were genotyped for the exon 8 allele: 50 children had del/del, 33 del/ins, and 6 ins/ins. Body mass index (BMI) was greater for del/ins (24.1 ± 5.9 kg/m2) than for del/del (20.4 ± 4.8 kg/m2, p<0.001). BMI of ins/ins (23.7 ± 7.8 kg/m2) was not different from del/ins. This effect was independent of race and gender (ANOVAs, p< 0.05). Body composition was also different according to UCP2 genotype. All body circumferences and skin fold thicknesses examined were significantly greater in del/ins than in del/del. DXA body fat mass (p<0.005) was also greater in del/ins than del/del. For 104 children genotyped at exon 4, no significant differences in BMI or body composition were found among the three exon 4 genotypes. Neither resting energy expenditure nor respiratory quotient were different according to UCP2 exon 4 or exon 8 genotype. Conclusion The exon 8 ins/del polymorphism of UCP2 appears to be associated with childhood-onset obesity. The UCP2/UCP3 genetic locus may play a role in childhood body weight. PMID:10837279
Descriptions of Selected Career-Related College Language Courses
ERIC Educational Resources Information Center
Knodel, Arthur J.; And Others
1977-01-01
Seven courses or programs at different colleges emphasizing specific career applications of languages are described. They include: Technical French; Spanish for Law Enforcement and Correctional Personnel; Executive German; Proyecto Desarrollo Economico; Spanish for Medical Professions; Elements of Foreign Language, and Business French and Business…
[Health, environment and sustainable development in Mexico].
1998-09-01
This article is based on "Salud, ambiente y desarrollo humano sostenible: el caso de México," a document prepared in June 1997 by the Comité Técnico Nacional para el Desarrollo Sostenible. It opens with information regarding the epidemiologic and demographic changes that have taken place in Mexico, such as the decrease in communicable diseases, the rise in noncommunicable diseases, and the less conspicuous increase in lesions resulting from accidents or acts of violence. This is followed by a discussion of priority problems and problems of lesser magnitude in environmental health, specifically those relating to water and air quality, as well as disposal of household and dangerous wastes. Finally, it proposes three areas of intervention in light of the structural problems detected: the absence of an integrated information system covering the area of health, environment, and development; the absence of channels of communication within and between institutions and sectors, and the lack of coordination in planning and implementing programs and actions in this field.
Lurry, Dee L.; Reutter, David C.; Wells, Frank C.; Rivera, M.C.; Munoz, A.
1998-01-01
La Oficina del Estudio Geologico de los Estados Unidos (U.S. Geological Survey, 0 USGS) ha monitoreado la calidad del agua de la cuenca del Rio Grande (Rio Bravo del Norte) desde 1995 como parte de la rediseiiada Red Nacional para Contabilizar la Calidad del Agua de los Rios (National Stream Quality Accounting Network, o NASOAN) (Hooper and others, 1997). EI programa NASOAN fue diseiiado para caracterizar las concentraciones y el transporte de sedimento y constituyentes quimicos seleccionados, encontrados en los grandes rios de los Estados Unidos - incluyendo el Misisipi, el Colorado y el Columbia, ademas del Rio Grande. En estas cuatro cuencas, el USGS opera actualmente (1998) una red de 40 puntos de muestreo pertenecientes a NASOAN, con un enfasis en cuantificar el flujo en masa (la cantidad de material que pasa por la estacion, expresado en toneladas por dial para cada constituyente. Aplicacando un enfoque consistente, basado en la cuantificacion de flujos en la cuenca del Rio Grande, el programa NASOAN esta generando la informacion necesaria para identificar fuentes regionales de diversos contaminantes, incluyendo sustancias qui micas agricolas y trazas elementos en la cuenca. EI efecto de las grandes reservas en el Rio Grande se puede observar segun los flujos de constituyentes discurren a 10 largo del rio. EI analisis de los flujos de constituyentes a escala de la cuenca proveera los medios para evaluar la influencia de la actividad humana sobre las condiciones de calidad del agua del Rio Grande.
Modelo semi-empírico de protuberancia solar a partir del diagnóstico de densidades
NASA Astrophysics Data System (ADS)
Cirigliano, D.; Vial, J. C.; Rovira, M.
A partir de la observación del espectro del quintuplete de C III alrededor de 1175 Å, se ha realizado el diagnóstico de la densidad y presión electrónica, basado en el cálculo del cociente de las intensidades observadas. Una vez establecida la densidad electrónica, y con el cálculo de las velocidades Doppler, hemos investigado el flujo de masa en la protuberancia en función de la temperatura. Estableciendo como hipótesis la conservación del número de partículas que ingresan y salen del cuerpo de la protuberancia, se investiga la variación del área de un tubo de flujo semi-empírico en función de la temperatura. A partir de dicho diagnóstico, se examina el comportamiento del radio del tubo magnético en función de la temperatura, los que dan cuenta de la abertura de las líneas de campo magnético que confinan el plasma y de la divergencia del campo magnético en diferentes alturas de la atmósfera solar.
Yin, C Cameron; Tang, Guilin; Lu, Gary; Feng, Xiaoli; Keating, Michael J; Medeiros, L Jeffrey; Abruzzo, Lynne V
2015-08-01
Deletion 20q (Del(20q)), a common cytogenetic abnormality in myeloid neoplasms, is rare in chronic lymphocytic leukemia. We report 64 patients with chronic lymphocytic leukemia and del(20q), as the sole abnormality in 40, a stemline abnormality in 21, and a secondary abnormality in 3 cases. Fluorescence in situ hybridization (FISH) analysis revealed an additional high-risk abnormality, del(11q) or del(17p), in 25/64 (39%) cases. In most cases, the leukemic cells showed atypical cytologic features, unmutated IGHV (immunoglobulin heavy-chain variable region) genes, and ZAP70 positivity. The del(20q) was detected only after chemotherapy in all 27 cases with initial karyotypes available. With a median follow-up of 90 months, 30 patients (47%) died, most as a direct consequence of chronic lymphocytic leukemia. Eight patients developed a therapy-related myeloid neoplasm, seven with a complex karyotype. Combined morphologic and FISH analysis for del(20q) performed in 12 cases without morphologic evidence of a myeloid neoplasm localized the del(20q) to the chronic lymphocytic leukemia cells in 5 (42%) cases, and to myeloid/erythroid cells in 7 (58)% cases. The del(20q) was detected in myeloid cells in all 4 cases of myelodysplastic syndrome. In aggregate, these data indicate that chronic lymphocytic leukemia with del(20q) acquired after therapy is heterogeneous. In cases with morphologic evidence of dysplasia, the del(20q) likely resides in the myeloid lineage. However, in cases without morphologic evidence of dysplasia, the del(20q) may represent clonal evolution and disease progression. Combining morphologic analysis with FISH for del(20q) or performing FISH on immunomagnetically selected sub-populations to localize the cell population with this abnormality may help guide patient management.
Yin, C. Cameron; Tang, Guilin; Lu, Gary; Feng, Xiaoli; Keating, Michael J.; Medeiros, L. Jeffrey; Abruzzo, Lynne V.
2015-01-01
Del(20q), a common cytogenetic abnormality in myeloid neoplasms, is rare in chronic lymphocytic leukemia. We report 64 patients with chronic lymphocytic leukemia and del(20q), as the sole abnormality in 40, a stemline abnormality in 21, and a secondary abnormality in 3 cases. FISH analysis revealed an additional high-risk abnormality, del(11q) or del(17p), in 27/64 (42%) cases. In most cases, the leukemic cells showed atypical cytologic features, unmutated IGHV genes and ZAP70 positivity. The del(20q) was detected only after chemotherapy in all 27 cases with initial karyotypes available. With a median follow-up of 90 months, 30 patients (47%) died, most as a direct consequence of chronic lymphocytic leukemia. Eight patients developed a therapy-related myeloid neoplasm, seven with a complex karyotype. Combined morphologic and FISH analysis for del(20q) performed in 12 cases without morphologic evidence of a myeloid neoplasm localized the del(20q) to the chronic lymphocytic leukemia cells in 5 (42%) cases, and to myeloid/erythroid cells in 7 (58)% cases. The del(20q) was detected in myeloid cells in all 4 cases of myelodysplastic syndrome. In aggregate, these data indicate that chronic lymphocytic leukemia with del(20q) acquired after therapy is heterogeneous. In cases with morphologic evidence of dysplasia, the del(20q) likely resides in the myeloid lineage. However, in cases without morphologic evidence of dysplasia, the del(20q) may represent clonal evolution and disease progression. Combining morphologic analysis with FISH for del(20q) or performing FISH on immunomagnetically-selected subpopulations to localize the cell population with this abnormality may help guide patient management. PMID:25953391
Globalizacion y Educacion (Globalization and Education).
ERIC Educational Resources Information Center
Estudios, Sobre Educacion, 2001
2001-01-01
This journal issue introduces key points in education from a humanistic and interdisciplinary perspective. Articles are in Spanish (one article is in English) and each one contains a brief abstract in English. Research studies included are: "Globalizacion, Desarrollo y Pobreza (Reflexiones desde la Libertad)" (Juan Jose Toribio);…
ERIC Educational Resources Information Center
Soberanes, Juan F. Millan, Ed.
2000-01-01
This collection of Spanish language papers on adult literacy education includes the following: "Sistematizacion: Un Instrumento Pedagogico en los Proyectos de Desarrollo Sustenable" [Systematization: A Pedagogic Instrument in Projects of Sustainable Development] (Joao Francisco de Souza); "Estudio Cualitativo de la Investigacion…
Increasing Naval Security Cooperation between the U.S., Chile and Peru
2009-03-01
del Mar: La Marina de Guerra en la historia del Perú (Lima: Marina de Guerra del Perú, 1994), 184. 108 Ibid., 188. 109 Ibid., 191-193. 42 “the...La Marina de Guerra en la historia del Perú, 205. 111 Ibid. 112 Ibid., 210. 113 Ibid., 229. 114 Ibid., 230. 115 Ibid., 246. 43 contributed to...la Puente Brunke, Los Hombres del Mar: La Marina de Guerra en la historia del Perú, 252. 117 Ibid., 264. 118 Ibid., 302. 119 Ibid., 342. 44
Brown, Natalie; Finnon, Rosemary; Manning, Grainne; Bouffler, Simon; Badie, Christophe
2015-11-01
Leukaemia is the prevailing neoplastic disorder of the hematopoietic system. Epidemiological analyses of the survivors of the Japanese atomic bombings show that exposure to ionising radiation (IR) can cause leukaemia. Although a clear association between radiation exposure and leukaemia development is acknowledged, the underlying mechanisms remain incompletely understood. A hemizygous deletion on mouse chromosome 2 (del2) is a common feature in several mouse strains susceptible to radiation-induced acute myeloid leukaemia (rAML). The deletion is an early event detectable 24h after exposure in bone marrow cells. Ultimately, 15-25% of exposed animals develop AML with 80-90% of cases carrying del2. Molecular mapping of leukaemic cell genomes identified a minimal deleted region (MDR) on chromosome 2 (chr2) in which a tumour suppressor gene, Sfpi1 is located, encoding the transcription factor PU.1, essential in haematopoiesis. The remaining copy of Sfpi1 has a point mutation in the coding sequence for the DNA-binding domain of the protein in 70% of rAML, which alters a single CpG sequence in the codon for arginine residue R235. In order to identify chr2 deletions and Sfpi.1/PU.1 loss, we performed array comparative genomic hybridization (aCGH) on a unique panel of 79rAMLs. Using a custom made CGH array specifically designed for mouse chr2, we analysed at unprecedentedly high resolution (1.4M array- 148bp resolution) the size of the MDR in low LET and high-LET induced rAMLs (32 X-ray- and 47 neutron-induced). Sequencing of Sfpi1/PU.1DNA binding domain identified the presence of R235 point mutations, showing no influence of radiation quality on R235 type or frequency. We identified for the first time rAML cases with complex del2 in a subset of neutron-induced AMLs. This study allowed us to re-define the MDR to a much smaller 5.5Mb region (still including Sfpi1/PU.1), identical regardless of radiation quality. Crown Copyright © 2015. Published by Elsevier B.V. All rights reserved.
Gu, Liqiang; Yu, Jun; Wang, Qing; Xu, Bin; Ji, Liechen; Yu, Lin; Zhang, Xipeng; Cai, Hui
2018-05-03
The present study aimed to investigate potential prognostic long noncoding RNAs (lncRNAs) associated with colorectal cancer (CRC). An mRNA‑seq dataset obtained from The Cancer Genome Atlas was employed to identify the differentially expressed lncRNAs (DELs) between CRC patients with good and poor prognoses. Subsequently, univariate and multivariate Cox regression analyses were conducted to analyze the prognosis‑associated lncRNAs among all DELs. In addition, a risk scoring system was developed according to the expression levels of the prognostic lncRNAs, which was then applied to a training set and an independent testing set. Furthermore, the co‑expressed genes of prognostic lncRNAs were screened using a Multi‑Experiment Matrix online tool for construction of lncRNA‑gene networks. Finally, Kyoto Encyclopedia of Genes and Genomes pathway and Gene Ontology (GO) function enrichment analyses were performed on genes in the lncRNA‑gene networks using KOBAS, GOATOOLS and ClusterProfiler. The present study identified 82 DELs, of which long intergenic nonprotein coding RNA 2159, RP11‑452L6.6, RP11‑894P9.1 and RP11‑69M1.6, and whey acidic protein four‑disulfide core domain 21 (WFDC21P) were reported to be independently associated with the prognosis of patients with CRC. A 5‑lncRNA signature‑based risk scoring system was developed, which may be used to classify patients into low‑ and high‑risk groups with significantly different recurrence‑free survival times in the training and testing sets (P<0.05). Co‑expressed genes of WFDC21P or RP11‑69M1.6 were utilized to construct the lncRNA‑gene networks. Genes in the networks were significantly enriched in 'tight junction', 'focal adhesion' and 'regulation of actin cytoskeleton' pathways, and numerous GO terms associated with 'reactive oxygen species metabolism' and 'nitric oxide metabolism'. The present study proposed a 5‑lncRNA signature‑based risk scoring system for predicting the prognosis of patients with CRC, and revealed the associated signaling pathways and biological processes. The results of the present study may help improve prognostic evaluation in clinical practice.
Del-1 Expression as a Potential Biomarker in Triple-Negative Early Breast Cancer.
Lee, Soo Jung; Lee, Jeeyeon; Kim, Wan Wook; Jung, Jin Hyang; Park, Ho Yong; Park, Ji-Young; Chae, Yee Soo
2018-01-01
A differential diagnostic role for plasma Del-1 was proposed for early breast cancer (EBC) in our previous study. We examined tumoral Del-1 expression and analyzed its prognostic impact among patients with EBC. Del-1 mRNA expression was assessed in breast epithelial and cancer cells. Meanwhile, the tumoral expression of Del-1 was determined based on tissue microarrays and immunohistochemistry results from 440 patients. While a high Del-1 mRNA expression was found in all the breast cancer cell lines, the expression was significantly higher in MDA-MB-231. Tumoral expression of Del-1 was also significantly associated with a negative expression of estrogen receptor or progesterone receptor, and low expression of Ki-67, particularly in the case of triple-negative breast cancer (TNBC) (p < 0.036). Furthermore, a correlation was found between Del-1 expression and an aggressive histological grade, nuclear mitosis, and polymorphism, suggesting a possible role in tumor progression. In the survival analysis, a worse distant disease-free survival trend was noted for the group overexpressing Del-1. While all the investigated breast cancer cell lines exhibited Del-1 expression, the expression rate and intensity were specifically prominent in TNBC. In addition, based on its relationship to an unfavorable histology and worse survival trend, Del-1 could act as a molecular target in TNBC patients. © 2018 S. Karger AG, Basel.
Braun, Thorsten; de Botton, Stéphane; Taksin, Anne-Laure; Park, Sophie; Beyne-Rauzy, Odile; Coiteux, Valérie; Sapena, Rosa; Lazareth, Anne; Leroux, Geneviève; Guenda, Khaled; Cassinat, Bruno; Fontenay, Michaela; Vey, Norbert; Guerci, Agnès; Dreyfus, François; Bordessoule, Dominique; Stamatoullas, Aspasia; Castaigne, Sylvie; Terré, Christine; Eclache, Virginie; Fenaux, Pierre; Adès, Lionel
2011-07-01
Isolated 20q deletion is common in MDS and considered of good prognosis, but no large series have been reported. We compared characteristics of 62 MDS patients with isolated del 20q, 36 patients with del 20q and other cytogenetic abnormalities, and 1335 MDS patients without del20q. Significant differences between MDS with isolated del 20q and patients without del 20q were lower platelet count (mean 144 vs. 196 G/l, p=0.005), lower marrow blast count (mean 3.9% vs. 5.6%, p=0.0008), and higher reticulocyte count (mean 72.5 vs. 51.7 G/l, p=0.04). Ten (16%) patients with isolated del 20q had Hb>12 g/dl and platelets <100 G/l, compared to 7.3% of patients without del 20q (p=0.025). Review of marrow slides of those 10 patients showed that could be readily identified as MDS prior to cytogenetics. Fourteen percent of patients with isolated del 20q progressed to AML compared to 11% with one and 24% with several additional abnormalities. Median survival was 54 months in patients with isolated del 20q, not reached and 12 months for del 20q with one and several additional abnormalities, respectively (p=0.035) confirming the favorable prognosis of del 20q without complex abnormalities. Copyright © 2011 Elsevier Ltd. All rights reserved.
Produccion Gaseosa del Cometa Halley: Erupciones Y Fotodisociacion del Radical OH
NASA Astrophysics Data System (ADS)
Silva, A. M.; Mirabel, I. F.
1990-11-01
RESUMEN:En este trabajo informamos la detecci6n de 20 erupciones en la li'nea de =18cm (1667MHz) del radical OH en el Cometa Halley.Las observaciones incluyen todos los monitoreos existentes y se extienden desde 120 dias antes del perihelio hasta 90 dias despues.Se detectan bruscos crecimientos en el flujo medido,hasta un factor 1O,seguidos por decaimientos lentos asociados con la fotodisociaci6n del OH. Se obtuvieron valores para el tiempo de vida fotoquimico del OH y del H2O basandose en el modelo desarrollado previamente por Silva(1988). Esos tiempos de vida estan de acuerdo con predicciones teoricas y con las observaciones en el Ultravioleta, y los resultados, los que son fuertemente dependientes de la velocidad heliocentrica del Coineta (variando hasta un factor 6), han sido calculados para varios rangos de velocidad entre +28 y -28 km/seg. Key wo'L :
DOE Office of Scientific and Technical Information (OSTI.GOV)
Lee, Seung-Hwan; Kim, Dong-Young; Jing, Feifeng
Developmental endothelial locus-1 (Del-1) is an endogenous anti-inflammatory molecule that is highly expressed in the lung and the brain and limits leukocyte migration to these tissues. We previously reported that the expression of Del-1 is positively regulated by p53 in lung endothelial cells. Although several reports have implicated the altered expression of Del-1 gene in cancer patients, little is known about its role in tumor cells. We here investigated the effect of Del-1 on the features of human lung carcinoma cells. Del-1 mRNA was found to be significantly decreased in the human lung adenocarcinoma cell lines A549 (containing wild typemore » of p53), H1299 (null for p53) and EKVX (mutant p53), compared to in human normal lung epithelial BEAS-2B cells and MRC-5 fibroblasts. The decrease of Del-1 expression was dependent on the p53 activity in the cell lines, but not on the expression of p53. Neither treatment with recombinant human Del-1 protein nor the introduction of adenovirus expressing Del-1 altered the expression of the apoptosis regulators BAX, PUMA and Bcl-2. Unexpectedly, the adenovirus-mediated overexpression of Del-1 gene into the lung carcinoma cell lines promoted proliferation and invasion of the lung carcinoma cells, as revealed by BrdU incorporation and transwell invasion assays, respectively. In addition, overexpression of the Del-1 gene enhanced features of epithelial–mesenchymal transition (EMT), such as increasing vimentin while decreasing E-cadherin in A549 cells, and increases in the level of Slug, an EMT-associated transcription regulator. Our findings demonstrated for the first time that there are deleterious effects of high levels of Del-1 in lung carcinoma cells, and suggest that Del-1 may be used as a diagnostic or prognostic marker for cancer progression, and as a novel therapeutic target for lung carcinoma. - Highlights: • Developmental Endothelial Locus-1 (Del-1) expression is downregulated in human lung cancer cells. • Overexpression of the Del-1 gene potentiates proliferation and invasion of lung carcinoma cells. • Del-1 may be used as a diagnostic or prognostic marker for lung cancer progression.« less
Klotzsche - von Ameln, Anne; Cremer, Sebastian; Hoffmann, Jedrzej; Schuster, Peggy; Khedr, Sherif; Korovina, Irina; Troulinaki, Maria; Neuwirth, Ales; Sprott, David; Chatzigeorgiou, Antonios; Economopoulou, Matina; Orlandi, Alessia; Hain, Andreas; Zeiher, Andreas M.; Deussen, Andreas; Hajishengallis, George; Dimmeler, Stefanie; Chavakis, Triantafyllos; Chavakis, Emmanouil
2017-01-01
We have recently identified endothelial cell-secreted developmental endothelial locus-1 (Del-1) as an endogenous inhibitor of β2-integrin–dependent leukocyte infiltration. Del-1 was previously also implicated in angiogenesis. Here, we addressed the role of endogenously produced Del-1 in ischemia-related angiogenesis. Intriguingly, Del-1–deficient mice displayed increased neovascularization in two independent ischemic models (retinopathy of prematurity and hind-limb ischemia), as compared to Del-1–proficient mice. On the contrary, angiogenic sprouting in vitro or ex vivo (aortic ring assay) and physiological developmental retina angiogenesis were not affected by Del-1 deficiency. Mechanistically, the enhanced ischemic neovascularization in Del-1-deficiency was linked to higher infiltration of the ischemic tissue by CD45+ hematopoietic and immune cells. Moreover, Del-1-deficiency promoted β2-integrin–dependent adhesion of hematopoietic cells to endothelial cells in vitro, and the homing of hematopoietic progenitor cells and of immune cell populations to ischemic muscles in vivo. Consistently, the increased hind limb ischemia-related angiogenesis in Del-1 deficiency was completely reversed in mice lacking both Del-1 and the β2-integrin LFA-1. Additionally, enhanced retinopathy-associated neovascularization in Del-deficient mice was reversed by LFA-1 blockade. Our data reveal a hitherto unrecognized function of endogenous Del-1 as a local inhibitor of ischemia-induced angiogenesis by restraining LFA-1–dependent homing of pro-angiogenic hematopoietic cells to ischemic tissues. Our findings are relevant for the optimization of therapeutic approaches in the context of ischemic diseases. PMID:28447099
Fuchs-Telem, D; Nousbeck, J; Singer, A; McGrath, J A; Sarig, O; Sprecher, E
2014-04-01
Kindler syndrome (KS) is a rare autosomal recessive skin disorder, which was recently reclassified as a subtype of epidermolysis bullosa. Despite the fact that loss-of-function mutations in the FERMT1 gene, encoding kindlin-1, have been shown to cause the syndrome in numerous patients, a small number of typical cases of KS in which FERMT1 mutations could not be identified has raised the possibility that the disorder may be genetically heterogeneous. To assess two highly consanguineous families with clinical characteristics of KS. In the first family, a hitherto unreported deletion (c.137-140delTAGT) in FERMT1 was detected, which is predicted to lead to premature termination of translation. However, direct sequencing of the coding region of FERMT1 failed to disclose any pathogenic change in the second family. To confirm the possibility that the disease in this family may be due to a mutation in another gene, we used homozygosity mapping, and found that all affected family members share a segment of homozygosity on 20p12.3, spanning the FERMT1 gene. Accordingly, a large and highly unusual deletion (g.-711-1241del) spanning the putative FERMT1 promoter sequence and the first noncoding exon of the gene was found to cosegregate with the disease phenotype in this family, and to prevent transcription of the gene, as attested by the lack of FERMT1 message in the skin of a patient. The present data provide evidence in support of genetic homogeneity in KS. © 2014 British Association of Dermatologists.
Abaci, Ayhan; Wood, Kent; Demir, Korcan; Büyükgebiz, Atilla; Böber, Ece; Kopp, Peter
2010-01-01
To study the case of a 2 10/12-year-old boy who had growth failure and delayed bone maturation. We reviewed the history, which revealed that he had had polyuria, polydipsia, lack of weight gain, and frequent vomiting since the age of 5 months. On physical examination, his height was 86 cm (-1.93 standard deviation [SD]), his weight 10.5 kg (-2.67 SD), and he had motor and mental retardation. His maternal great-grandfather also had polyuria and polydipsia (but not diabetes mellitus), suggesting X-linked nephrogenic diabetes insipidus as the underlying cause. The patient underwent a water deprivation-desmopressin test. The coding region of the AVPR2 gene was amplified by polymerase chain reaction and submitted to direct sequence analysis. The water deprivation test confirmed the diagnosis of diabetes insipidus, and administration of desmopressin did not diminish his water secretion. Direct sequencing of the AVPR2 gene revealed a novel deletion of adenine at position 222 (222delA) in exon 2. This mutation is predicted to lead to a frameshift beginning at amino acid 75 and a premature stop codon at position 115 (FS75>115X). His height and weight, as well as his motor skills, improved after initiation of therapy with hydrochlorothiazide and amiloride. Growth delay can be associated with diabetes insipidus. The X-linked nephrogenic diabetes insipidus in this boy is caused by a novel mutation in the AVPR2 gene that is predicted to truncate the receptor protein.
El moho forma parte del medio ambiente natural. Afuera del hogar, el moho juega un papel en la naturaleza al desintegrar materias organicas tales como las hojas que se han caido o los arboles muertos. El moho puede crecer adentro del hogar cuando las espor
DOE Office of Scientific and Technical Information (OSTI.GOV)
Pallavicini, Marco
1995-01-01
Oggetto di questa tesi è la misura di alcune caratteristiche fisiche ( massa, larghezza, e larghezza parziale in p - p) degli stati 3 Pi e 3 A del charmonio, - overo del sistema legato di un quark "charm" e del suo antiquark-, nell'ambito dell'esperimento E-760, installato nell'accumulatore di antiprotoni del Fermilab (U.S.A).
Gong, Chenrui; Du, Qingzhang; Xie, Jianbo; Quan, Mingyang; Chen, Beibei; Zhang, Deqiang
2018-01-01
Short insertions and deletions (InDels) are one of the major genetic variants and are distributed widely across the genome; however, few investigations of InDels have been conducted in long-lived perennial plants. Here, we employed a combination of RNA-seq and population resequencing to identify InDels within differentially expressed (DE) genes underlying wood formation in a natural population of Populus tomentosa (435 individuals) and utilized InDel-based association mapping to detect the causal variants under additive, dominance, and epistasis underlying growth and wood properties. In the present paper, 5,482 InDels detected from 629 DE genes showed uneven distributions throughout all 19 chromosomes, and 95.9% of these loci were diallelic InDels. Seventy-four InDels (positive false discovery rate q ≤ 0.10) from 68 genes exhibited significant additive/dominant effects on 10 growth and wood-properties, with an average of 14.7% phenotypic variance explained. Potential pleiotropy was observed in one-third of the InDels (representing 24 genes). Seven genes exhibited significantly differential expression among the genotypic classes of associated InDels, indicating possible important roles for these InDels. Epistasis analysis showed that overlapping interacting genes formed unique interconnected networks for each trait, supporting the putative biochemical links that control quantitative traits. Therefore, the identification and utilization of InDels in trees will be recognized as an effective marker system for molecular marker-assisted breeding applications, and further facilitate our understanding of quantitative genomics. PMID:29403506
Radio-Observaciones del OH EN la Coma del Cometa Halley Desde EL Hemisferio Sur
NASA Astrophysics Data System (ADS)
Silva, A. M.; Bajaja, E.; Morras, R.; Cersosimo, J. C.; Martin, M. C.; Arnal, E. M.; Poppel, W. G. L.; Colomb, F. R.; Mazzaro, J.; Olalde, J. C.; Boriakoff, V.; Mirabel, I. F.
1987-05-01
Se utilizó una antena de 30 metros del Instituto Argentino de Radioastronomía para observaciones diarias Cf ebrero a abril de 1986) de la transición en 1667 MHz ( λ = 18 cm) del OH en la coma del cometa Halley. De las observaciones realizadas se concluye: 1) El número promedio de moléculas de OH en la coma durante 37 días de observación fue de (8.9±3.5)x1034 moléculas, lo que implica una tasa de producción promedio de OH de 1.8x1029 moléculas seg-1 y consecuentemente una pérdida de masa promedio de 17±6 toneladas seg-1 . Este valor está de acuerdo con las mediciones realizadas por las sondas Vega y Giotto. 2) El monitoreo desde el lAR revela la existencia de variaciones bruscas en los flujos de absorción del OH. Estas variaciones son consistentes con los modelos que representan la producción gaseosa a partir de ejecciones y/o desprendimientos discretos de materia congelada del núcleo. 3) Las variaciones en la densidad de flujo son consistentes con las estimaciones de los tiem- pos de vida medios del H2O y del OH en presencia del campo de radiación solar. 4) Se encuentra una correlación entre la intensidad del flujo absorbido y anisotropías en Ia dinamica de la coma.
The influence of faults in basin-fill deposits on land subsidence, Las Vegas Valley, Nevada, USA
NASA Astrophysics Data System (ADS)
Burbey, Thomas
2002-07-01
The role of horizontal deformation caused by pumping of confined-aquifer systems is recognized as contributing to the development of earth fissures in semiarid regions, including Las Vegas Valley, Nevada. In spite of stabilizing water levels, new earth fissures continue to develop while existing ones continue to lengthen and widen near basin-fill faults. A three-dimensional granular displacement model based on Biot's consolidation theory (Biot, MA, 1941, General theory of three-dimensional consolidation. Jour. Applied Physics 12:155-164) has been used to evaluate the nature of displacement in the vicinity of two vertical faults. The fault was simulated as (1) a low-permeability barrier to horizontal flow, (2) a gap or structural break in the medium, but where groundwater flow is not obstructed, and (3) a combination of conditions (1) and (2). Results indicate that the low-permeability barrier greatly enhances horizontal displacement. The fault plane also represents a location of significant differential vertical subsidence. Large computed strains in the vicinity of the fault may suggest high potential for failure and the development of earth fissures when the fault is assumed to have low permeability. Results using a combination of the two boundaries suggest that potential fissure development may be great at or near the fault plane and that horizontal deformation is likely to play a key role in this development. Résumé. On considère que la déformation horizontale provoquée par un pompage dans un aquifère captif joue un rôle dans le développement des fissures du sol en régions semi-arides, comme la vallée de Las Vegas (Nevada). Malgré des niveaux d'eau stabilisés, de nouvelles fissures du sol continuent de se développer en longueur et en largeur au voisinage de failles dans les bassins sédimentaires. Un modèle de déplacement granulaire tri-dimensionnel, basé sur la théorie de la consolidation de Biot (Biot, M A, 1941, General theory of three-dimensional consolidation. Jour. Applied Physics 12:155-164), a été utilisé pour évaluer la nature du déplacement au voisinage de deux failles verticales. La faille a été simulée comme 1) une barrière de faible perméabilité pour l'écoulement horizontal, 2) une rupture structurale dans le milieu, mais sans obstruction de l'écoulement, et 3) une combinaison des deux précédentes conditions. Les résultats indiquent que la barrière de faible perméabilité favorise fortement le déplacement horizontal. Le plan de faille constitue aussi un lieu de subsidence différentielle verticale significative. Les fortes contraintes calculées au voisinage de la faille laissent penser qu'il existe un fort potentiel de rupture et le développement de fissures du sol quand on suppose que la faille possède une faible perméabilité. Les résultats utilisant une combinaison des deux conditions suggèrent que le développement potentiel de fissures peut être grand sur ou à proximité du plan de faille et que la déformation horizontale joue vraisemblablement un rôle clé dans ce développement. Resumen. Se conoce la contribución que la deformación horizontal causada por el bombeo de sistemas acuíferos confinados tienen en el desarrollo de fisuras en regiones semiáridas, como es el caso del Valle de Las Vegas (Nevada, Estados Unidos de América). A pesar de la estabilización de los niveles, se continúa desarrollando nuevas fisuras, mientras las ya existentes se alargan y ensanchan cerca de las fallas de relleno de cuenca. Se ha utilizado un modelo tridimensional de desplazamiento granular basado en la teoría de consolidación de Biot (Biot, M.A., 1941. General theory of three-dimensional consolidation. J. Applied Physics, 12: 155-164) para evaluar la naturaleza del desplazamiento junto a dos fallas verticales. Se ha simulado cada falla como (1) una barrera de baja permeabilidad al flujo horizontal, (2) un hueco o ruptura estructural en el medio pero sin obstrucción al flujo de aguas subterráneas, y (3) una combinación de las dos condiciones anteriores. Los resultados indican que la barrera de baja permeabilidad incrementa enormemente el desplazamiento horizontal. El plano de falla también representa una situación de subsidencia diferencial vertical significativa. Los valores elevados que se han calculado para la deformación en la proximidad de la falla pueden sugerir que existe un alto potencial de fallo y desarrollo de fisuras cuando se supone que la falla posee una baja permeabilidad. Si se combinan los dos contornos, los resultados sugieren que el desarrollo potencial de fisuras puede ser mayor en o cerca de el plano de falla, y que es probable que la deformación horizontal desempeñe un papel clave en él.
DOT National Transportation Integrated Search
2004-06-01
The DelTrac deployment experience included both successes and unmet challenges. Programmatically, the DelTrac approach to managing ITS has been successful at creating a great deal of integration and cooperation between organizations at DelDOT. Stakeh...
An Annotated Bibliography of Latin American Military Journals.
1965-12-01
CABALLERIA Y UNIDADES BLINDADAS) REVISTA DE INFANTERIA REVISTA DE INGENIERIA MILITÄR (Organo de la Academia Politecnica Militär) REVISTA DEL...Appendix--continued ■84- PERU BOLETIN DEL MINISTERIO DE GUERRA Y MARINA (Continued as MEMORIAL DEL EJERCITO) INFANTERIA INGENIERIA REVISTA DEL
Stanton, Bruce A.; Coutermarsh, Bonita; Barnaby, Roxanna; Hogan, Deborah
2015-01-01
Background P. aeruginosa is an opportunistic pathogen that chronically infects the lungs of 85% of adult patients with Cystic Fibrosis (CF). Previously, we demonstrated that P. aeruginosa reduced wt-CFTR Cl secretion by airway epithelial cells. Recently, a new investigational drug VX-809 has been shown to increase F508del-CFTR Cl secretion in human bronchial epithelial (HBE) cells, and, in combination with VX-770, to increase FEV1 (forced expiratory volume in 1 second) by an average of 3-5% in CF patients homozygous for the F508del-CFTR mutation. We propose that P. aeruginosa infection of CF lungs reduces VX-809 + VX-770- stimulated F508del-CFTR Cl secretion, and thereby reduces the clinical efficacy of VX-809 + VX-770. Methods and Results F508del-CFBE cells and primary cultures of CF-HBE cells (F508del/F508del) were exposed to VX-809 alone or a combination of VX-809 + VX-770 for 48 hours and the effect of P. aeruginosa on F508del-CFTR Cl secretion was measured in Ussing chambers. The effect of VX-809 on F508del-CFTR abundance was measured by cell surface biotinylation and western blot analysis. PAO1, PA14, PAK and 6 clinical isolates of P. aeruginosa (3 mucoid and 3 non-mucoid) significantly reduced drug stimulated F508del-CFTR Cl secretion, and plasma membrane F508del-CFTR. Conclusion The observation that P. aeruginosa reduces VX-809 and VX-809 + VX-770 stimulated F508del CFTR Cl secretion may explain, in part, why VX-809 + VX-770 has modest efficacy in clinical trials. PMID:26018799
Stanton, Bruce A; Coutermarsh, Bonita; Barnaby, Roxanna; Hogan, Deborah
2015-01-01
P. aeruginosa is an opportunistic pathogen that chronically infects the lungs of 85% of adult patients with Cystic Fibrosis (CF). Previously, we demonstrated that P. aeruginosa reduced wt-CFTR Cl secretion by airway epithelial cells. Recently, a new investigational drug VX-809 has been shown to increase F508del-CFTR Cl secretion in human bronchial epithelial (HBE) cells, and, in combination with VX-770, to increase FEV1 (forced expiratory volume in 1 second) by an average of 3-5% in CF patients homozygous for the F508del-CFTR mutation. We propose that P. aeruginosa infection of CF lungs reduces VX-809 + VX-770- stimulated F508del-CFTR Cl secretion, and thereby reduces the clinical efficacy of VX-809 + VX-770. F508del-CFBE cells and primary cultures of CF-HBE cells (F508del/F508del) were exposed to VX-809 alone or a combination of VX-809 + VX-770 for 48 hours and the effect of P. aeruginosa on F508del-CFTR Cl secretion was measured in Ussing chambers. The effect of VX-809 on F508del-CFTR abundance was measured by cell surface biotinylation and western blot analysis. PAO1, PA14, PAK and 6 clinical isolates of P. aeruginosa (3 mucoid and 3 non-mucoid) significantly reduced drug stimulated F508del-CFTR Cl secretion, and plasma membrane F508del-CFTR. The observation that P. aeruginosa reduces VX-809 and VX-809 + VX-770 stimulated F508del CFTR Cl secretion may explain, in part, why VX-809 + VX-770 has modest efficacy in clinical trials.
Guanais, Frederico C.
2015-01-01
Objetivos. Examiné los efectos combinados del acceso a la atención primaria mediante el Programa de Salud Familiar (PSF) y las transferencias condicionadas de dinero en efectivo del Programa Bolsa Familia (PBF) sobre la mortalidad infantil posneonatal (MIPN) en Brasil. Métodos. Empleé un análisis ecológico longitudinal usando datos en panel de 4 583 municipios brasileños de 1998 al 2010, con 54 253 observaciones en total. Estimé modelos de regresión de efectos fijos por mínimos cuadrados ordinarios, con la tasa de MIPN como la variable dependiente y el PSF, el PBF y sus interacciones como las principales variables independientes de interés. Resultados. La asociación de una mayor cobertura del PSF con una menor tasa de MIPN se volvió más fuerte conforme aumentaba la cobertura del PBF. En los promedios de todas las demás variables, cuando la cobertura de PBF era 25%, la MIPN predicha fue 5,24 (intervalo de confianza [IC] de 95% = 4,95, 5,53) para una cobertura del PSF de 0%, y de 3,54 (IC de 95% = 2,77, 4,31) para una cobertura del PSF de 100%. Cuando la cobertura del PBF era de 60%, la MIPN predicha fue 4,65 (IC de 95% = 4,36, 4,94) para una cobertura del PSF de 0%, y de 1,38 (IC de 95% = 0,88, 1,89) para una cobertura del PSF de 100%. Conclusiones. El efecto del PSF depende de la ampliación del PBF. Para las poblaciones empobrecidas y subatendidas, la combinación de intervenciones tanto del lado de la oferta como del lado de la demanda podría ser necesaria para mejorar los resultados en salud.
NASA Astrophysics Data System (ADS)
Davila Montanez, Melissa
Esta investigacion de naturaleza cualitativa se ocupo de realizar un analisis de contenido documental de los Documentos Normativos del Programa de Ciencias en el area de biologia de la escuela superior del sistema de educacion publica de Puerto Rico del periodo 1993-2012. Los documentos analizados fueron: Guia Curricular, 1995; Marco Curricular, 2003; Estandares de Excelencia, 1996, 2000 y Estandares de Contenido y Expectativas de Grado, 2007. Se indago si hubo cambios en significados en los Componentes Estructurales: Naturaleza de la ciencia, Paradigmas para la ensenanza de la ciencia, Funcion del curriculo formal, Mision de la ensenanza de la ciencia; Contenidos, destrezas y competencias, Estrategias de ensenanza y Evaluacion/Assessment del aprendizaje. El analisis sugiere que no hubo cambios sustanciales en los significados de los Componentes Estructurales. Los documentos estudiados muestran mayormente caracteristicas similares, aunque los documentos mas recientes eran mas descriptivos, explicativos y especificos.
Chung, W Joon; Goeckeler-Fried, Jennifer L; Havasi, Viktoria; Chiang, Annette; Rowe, Steven M; Plyler, Zackery E; Hong, Jeong S; Mazur, Marina; Piazza, Gary A; Keeton, Adam B; White, E Lucile; Rasmussen, Lynn; Weissman, Allan M; Denny, R Aldrin; Brodsky, Jeffrey L; Sorscher, Eric J
2016-01-01
Small molecules that correct the folding defects and enhance surface localization of the F508del mutation in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) comprise an important therapeutic strategy for cystic fibrosis lung disease. However, compounds that rescue the F508del mutant protein to wild type (WT) levels have not been identified. In this report, we consider obstacles to obtaining robust and therapeutically relevant levels of F508del CFTR. For example, markedly diminished steady state amounts of F508del CFTR compared to WT CFTR are present in recombinant bronchial epithelial cell lines, even when much higher levels of mutant transcript are present. In human primary airway cells, the paucity of Band B F508del is even more pronounced, although F508del and WT mRNA concentrations are comparable. Therefore, to augment levels of "repairable" F508del CFTR and identify small molecules that then correct this pool, we developed compound library screening protocols based on automated protein detection. First, cell-based imaging measurements were used to semi-quantitatively estimate distribution of F508del CFTR by high content analysis of two-dimensional images. We evaluated ~2,000 known bioactive compounds from the NIH Roadmap Molecular Libraries Small Molecule Repository in a pilot screen and identified agents that increase the F508del protein pool. Second, we analyzed ~10,000 compounds representing diverse chemical scaffolds for effects on total CFTR expression using a multi-plate fluorescence protocol and describe compounds that promote F508del maturation. Together, our findings demonstrate proof of principle that agents identified in this fashion can augment the level of endoplasmic reticulum (ER) resident "Band B" F508del CFTR suitable for pharmacologic correction. As further evidence in support of this strategy, PYR-41-a compound that inhibits the E1 ubiquitin activating enzyme-was shown to synergistically enhance F508del rescue by C18, a small molecule corrector. Our combined results indicate that increasing the levels of ER-localized CFTR available for repair provides a novel route to correct F508del CFTR.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Pallavicini, Marco
1995-01-01
Oggetto di questa tesi e la misura di alcune caratteristiche fisiche (massa, larghezza, e larghezza parziale in p -more » $$\\bar{p}$$) degli stati 3P 1 e 3P 2 del charmonio, -ovvero del sistema legato di un quark "charm" e del suo antiquark-, nell'amito dell'esperimento E-760, installato nell'accumulatore di antiprotoni del Fermilab.« less
Regulation and Function of TIFAB in Myelodysplastic Syndrome
2013-06-01
genomic alteration in MDS is deletion of chromosome 5q (del(5q)). MDS patients with an isolated del(5q) presenting with anemia, neutropenia , and...is deletion of chromosome 5q (del(5q)). MDS patients with an isolated del(5q) presenting with anemia, neutropenia , and elevated platelets associated
NASA Astrophysics Data System (ADS)
Müller, Dora
2007-11-01
The author of this memoir Dora Müller (born 1920) belongs - as well as Kurt Gödel-to the German minority playing an important role in the past life of Brno. The marriage of his son included her among the Gödels collaterals. She was chemist, but also pianist, historician, participant of antinacist movement and iniciator of Czech-German understanding after war. Following her personal experiences, remembrances of Gödels relatives and documental materials, she evokes the atmosphere of broader family milieu of Kurt Gödel.
Resolving the Orientation of Cylinders and Cuboids from Projected Area Measurements
2016-05-01
fabs ( e1 ) + Ay * fabs ( e2...Az * fabs ( e3 ) - A_xy; 90 g = Ax * fabs ( e4 ) + Ay * fabs ( e5 ) + Az * fabs ( e6 ) - A_xz; 91 h = Ax * fabs ( e7 ) + Ay * fabs ( e8 ) + Az * fabs ( e9...b23 * h; 128 del_r = b31 * f + b32 * g + b33 * h; 129 130 p -= del_p; 131 y -= del_y; 132 r -= del_r; 133 134 if ( fabs ( del_p ) < TOL && fabs (
Del Piccolo, Lidia; de Haes, Hanneke; Heaven, Cathy; Jansen, Jesse; Verheul, William; Bensing, Jozien; Bergvik, Svein; Deveugele, Myriam; Eide, Hilde; Fletcher, Ian; Goss, Claudia; Humphris, Gerry; Kim, Young-Mi; Langewitz, Wolf; Mazzi, Maria Angela; Mjaaland, Trond; Moretti, Francesca; Nübling, Matthias; Rimondini, Michela; Salmon, Peter; Sibbern, Tonje; Skre, Ingunn; van Dulmen, Sandra; Wissow, Larry; Young, Bridget; Zandbelt, Linda; Zimmermann, Christa; Finset, Arnstein
2011-02-01
To present a method to classify health provider responses to patient cues and concerns according to the VR-CoDES-CC (Del Piccolo et al. (2009) [2] and Zimmermann et al. (submitted for publication) [3]). The system permits sequence analysis and a detailed description of how providers handle patient's expressions of emotion. The Verona-CoDES-P system has been developed based on consensus views within the "Verona Network of Sequence Analysis". The different phases of the creation process are described in detail. A reliability study has been conducted on 20 interviews from a convenience sample of 104 psychiatric consultations. The VR-CoDES-P has two main classes of provider responses, corresponding to the degree of explicitness (yes/no) and space (yes/no) that is given by the health provider to each cue/concern expressed by the patient. The system can be further subdivided into 17 individual categories. Statistical analyses showed that the VR-CoDES-P is reliable (agreement 92.86%, Cohen's kappa 0.90 (±0.04) p<0.0001). Once validity and reliability are tested in different settings, the system should be applied to investigate the relationship between provider responses to patients' expression of emotions and outcome variables. Research employing the VR-CoDES-P should be applied to develop research-based approaches to maximize appropriate responses to patients' indirect and overt expressions of emotional needs. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.
Skorczyk, Anna; Flisikowski, Krzysztof; Switonski, Marek
2012-05-01
Numerous mutations of the human melanocortin receptor type 4 (MC4R) gene are responsible for monogenic obesity, and some of them appear to be associated with predisposition or resistance to polygenic obesity. Thus, this gene is considered a functional candidate for fat tissue accumulation and body weight in domestic mammals. The aim of the study was comparative analysis of chromosome localization, nucleotide sequence, and polymorphism of the MC4R gene in two farmed species of the Canidae family, namely the Chinese raccoon dog (Nycterutes procyonoides procyonoides) and the arctic fox (Alopex lagopus). The whole coding sequence, including fragments of 3'UTR and 5'UTR, shows 89% similarity between the arctic fox (1276 bp) and Chinese raccoon dog (1213 bp). Altogether, 30 farmed Chinese raccoon dogs and 30 farmed arctic foxes were searched for polymorphisms. In the Chinese raccoon dog, only one silent substitution in the coding sequence was identified; whereas in the arctic fox, four InDels and two single-nucleotide polymorphisms (SNPs) in the 5'UTR and six silent SNPs in the exon were found. The studied gene was mapped by FISH to the Chinese raccoon dog chromosome 9 (NPP9q1.2) and arctic fox chromosome 24 (ALA24q1.2-1.3). The obtained results are discussed in terms of genome evolution of species belonging to the family Canidae and their potential use in animal breeding.
Software Development for Asteroid and Variable Star Research
NASA Astrophysics Data System (ADS)
Sweckard, Teaghen; Clason, Timothy; Kenney, Jessica; Wuerker, Wolfgang; Palser, Sage; Giles, Tucker; Linder, Tyler; Sanchez, Richard
2018-01-01
The process of collecting and analyzing light curves from variable stars and asteroids is almost identical. In 2016 a collaboration was created to develop a simple fundamental way to study both asteroids and variable stars using methods that would allow the process to be repeated by middle school and high school students.Using robotic telescopes at Cerro Tololo (Chile), Yerkes Observatory (US), and Stone Edge Observatory (US) data were collected on RV Del and three asteroids. It was discovered that the only available software program which could be easily installed on lab computers was MPO Canopus. However, after six months it was determined that MPO Canopus was not an acceptable option because of the steep learning curve, lack of documentation and technical support.Therefore, the project decided that the best option was to design our own python based software. Using python and python libraries we developed code that can be used for photometry and can be easily changed to the user's needs. We accomplished this by meeting with our mentor astronomer, Tyler Linder, and in the beginning wrote two different programs, one for asteroids and one for variable stars. In the end, though, we chose to combine codes so that the program would be capable of performing photometry for both moving and static objects.The software performs differential photometry by comparing the magnitude of known reference stars to the object being studied. For asteroids, the image timestamps are used to obtain ephemeris of the asteroid from JPL Horizons automatically.
Correa, Bruna R.; Bettoni, Fabiana; Koyama, Fernanda C.; Navarro, Fabio C.P.; Perez, Rodrigo O.; Mariadason, John; Sieber, Oliver M.; Strausberg, Robert L.; Simpson, Andrew J.G.; Jardim, Denis L.F.; Reis, Luiz Fernando L.; Parmigiani, Raphael B.; Galante, Pedro A.F.; Camargo, Anamaria A.
2014-01-01
We carried out a mutational analysis of 3,594 genes coding for cell surface proteins (Surfaceome) in 23 colorectal cancer cell lines, searching for new altered pathways, druggable mutations and mutated epitopes for targeted therapy in colorectal cancer. A total of 3,944 somatic non-synonymous substitutions and 595 InDels, occurring in 2,061 (57%) Surfaceome genes were catalogued. We identified 48 genes not previously described as mutated in colorectal tumors in the TCGA database, including genes that are mutated and expressed in >10% of the cell lines (SEMA4C, FGFRL1, PKD1, FAM38A, WDR81, TMEM136, SLC36A1, SLC26A6, IGFLR1). Analysis of these genes uncovered important roles for FGF and SEMA4 signaling in colorectal cancer with possible therapeutic implications. We also found that cell lines express on average 11 druggable mutations, including frequent mutations (>20%) in the receptor tyrosine kinases AXL and EPHA2, which have not been previously considered as potential targets for colorectal cancer. Finally, we identified 82 cell surface mutated epitopes, however expression of only 30% of these epitopes was detected in our cell lines. Notwithstanding, 92% of these epitopes were expressed in cell lines with the mutator phenotype, opening new venues for the use of “general” immune checkpoint drugs in this subset of patients. PMID:25193853
Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients.
Amr, Khalda; Messaoud, Olfa; El Darouti, Mohamad; Abdelhak, Sonia; El-Kamah, Ghada
2014-01-01
Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease characterized by hyperphotosensitivity, DNA repair defects and a predisposition to skin cancers. The most frequently occurring type worldwide is the XP group A (XPA). There is a close relationship between the clinical features that ranged from severe to mild form and the mutational site in XPA gene. The aim of this study is to carry out the mutational analysis in Egyptian patients with XP-A. This study was carried out on four unrelated Egyptian XP-A families. Clinical features were examined and direct sequencing of the coding region of XPA gene was performed in patients and their parents. Direct sequencing of the whole coding region of the XPA gene revealed the identification of two homozygous nonsense mutations: (c.553C >T; p.(Gln185)) and (c.331G>T; p.(Glu111)), which create premature, stop codon and a homodeletion (c.374delC: p.Thr125Ilefs 15) that leads to frameshift and premature translation termination. We report the identification of one novel XPA gene mutation and two known mutations in four unrelated Egyptian families with Xermoderma pigmentosum. All explored patients presented severe neurological abnormalities and have mutations located in the DNA binding domain. This report gives insight on the mutation spectrum of XP-A in Egypt. This would provide a valuable tool for early diagnosis of this severe disease. © 2013 Elsevier B.V. All rights reserved.
Felício, V; Ramalho, A S; Igreja, S; Amaral, M D
2017-03-01
Even with advent of next generation sequencing complete sequencing of large disease-associated genes and intronic regions is economically not feasible. This is the case of cystic fibrosis transmembrane conductance regulator (CFTR), the gene responsible for cystic fibrosis (CF). Yet, to confirm a CF diagnosis, proof of CFTR dysfunction needs to be obtained, namely by the identification of two disease-causing mutations. Moreover, with the advent of mutation-based therapies, genotyping is an essential tool for CF disease management. There is, however, still an unmet need to genotype CF patients by fast, comprehensive and cost-effective approaches, especially in populations with high genetic heterogeneity (and low p.F508del incidence), where CF is now emerging with new diagnosis dilemmas (Brazil, Asia, etc). Herein, we report an innovative mRNA-based approach to identify CFTR mutations in the complete coding and intronic regions. We applied this protocol to genotype individuals with a suspicion of CF and only one or no CFTR mutations identified by routine methods. It successfully detected multiple intronic mutations unlikely to be detected by CFTR exon sequencing. We conclude that this is a rapid, robust and inexpensive method to detect any CFTR coding/intronic mutation (including rare ones) that can be easily used either as primary approach or after routine DNA analysis. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Renieri, Carlo; La Terza, Antonietta
2015-01-01
The objectives of the present study were to characterize the MC1R gene, its transcripts and the single nucleotide polymorphisms (SNPs) associated with coat color in alpaca. Full length cDNA amplification revealed the presence of two transcripts, named as F1 and F2, differing only in the length of their 5′-terminal untranslated region (UTR) sequences and presenting a color specific expression. Whereas the F1 transcript was common to white and colored (black and brown) alpaca phenotypes, the shorter F2 transcript was specific to white alpaca. Further sequencing of the MC1R gene in white and colored alpaca identified a total of twelve SNPs; among those nine (four silent mutations (c.126C>A, c.354T>C, c.618G>A, and c.933G>A); five missense mutations (c.82A>G, c.92C>T, c.259A>G, c.376A>G, and c.901C>T)) were observed in coding region and three in the 3′UTR. A 4 bp deletion (c.224 227del) was also identified in the coding region. Molecular segregation analysis uncovered that the combinatory mutations in the MC1R locus could cause eumelanin and pheomelanin synthesis in alpaca. Overall, our data refine what is known about the MC1R gene and provides additional information on its role in alpaca pigmentation. PMID:25685836
NASA Astrophysics Data System (ADS)
Liu, Meng; Liu, Yuan; Hui, Min; Song, Chengwen; Cui, Zhaoxia
2017-03-01
Clip domain serine proteases (cSPs) and their homologs (SPHs) play an important role in various biological processes that are essential components of extracellular signaling cascades, especially in the innate immune responses of invertebrates. Here, polymorphisms of PtcSP and PtSPH from the swimming crab Portunus trituberculatus were investigated to explore their association with resistance/susceptibility to Vibrio alginolyticus. Polymorphic loci were identified using Clustal X, and characterized with SPSS 16.0 software, and then the significance of genotype and allele frequencies between resistant and susceptible stocks was determined by a χ 2 test. A total of 109 and 77 single nucleotide polymorphisms (SNPs) were identified in the genomic fragments of PtcSP and PtSPH, respectively. Notably, nearly half of PtSPH polymorphisms were found in the non-coding exon 1. Fourteen SNPs investigated were significantly associated with susceptibility/resistance to V. alginolyticus ( P <0.05). Among them, eight SNPs were observed in introns, and one synonymous, four non-synonymous SNPs and one ins-del were found in coding exons. In addition, five simple sequence repeats (SSRs) were detected in intron 3 of PtcSP. Although there was no statistically significant difference of allele frequencies, the SSRs showed different polymorphic alleles on the basis of the repeat number between resistant and susceptible stocks. After further validation, polymorphisms investigated here might be applied to select potential molecular markers of P. trituberculatus with resistance to V. alginolyticus.
La Educacion Continua de Profesionales de la Salud--Un Modelo para su Desarrollo
ERIC Educational Resources Information Center
Stensland, Per G.
1974-01-01
The author suggests a framework for planning and evaluating continuing education, giving attention to the learner, his objectives, and the learning process; these components are discussed in determining the special characteristics of the continuing education of professional health workers, and a model program is presented. The article is in…
The Colombian Remote Sensing Program,
refer to are: Plan de Integracion Nacional, (PIN), Programa de Desarrollo Rural Integrado, (DRI), Plan Nacional de Alimentacion y Nutricion (PAN) and... Politica Nacional de Ciencia y Tecnologia. The goals and organization of the program are presented in the last part of this report, together with the description of those activities deemed necessary for performing them.
Ensayos de Plantacion Estadisticamente Validos
C. B. Briscoe
1961-01-01
En la America Latina se plantan cada ano mas de cien millones de abolitos y por lo menos deberian plantar diez veces esta cantidad. El control y desarrollo racional de un programa de tal magnitud requieren que se establezcan y se interpreten sayos de plantacion cuidadosamente planeados. Dichos ensayos cuidadosamente planeados rediran resultados estadistacamente validos...
Effectiveness of an Intervention Program for Improving School Atmosphere: Some Results
ERIC Educational Resources Information Center
Sanchez, A. M.; Rivas, M. T.; Trianes, M. V.
2006-01-01
This work describes the results of the "Programa de Desarrollo Social y Afectivo" [Social and Affective Development Program] (Trianes & Munoz, 1994; Trianes, 1996), under way during four years at a public school in a disadvantaged area Malaga, earmarked for special educational resources. The intervention is meant to improve classroom…
F-35 Force Development Evaluation and Weapons School Beddown Environmental Impact Statement
2011-05-01
deficiencias encontradas después del despliegue del sistema; ♦ explora medios no materiales (por ejemplo, tácticas) para satisfacer requisitos...del adecuado desempeño del avión en combate al proporcionar entrenamiento, información sobre las capacidades operativas y nuevos requisitos. Además
Gonzálezy, Armando Ulloa; Monge, Melba de la Cruz Barrantes
2009-01-01
Este trabajo describe la situación de la bioética en Nicaragua, caracterizando las circunstancias y el contexto de las actividades de educación médica y las unidades prestadoras de servicios de salud. El desarrollo de un nuevo modelo de atención integral en salud, la implementación de políticas de salud que garanticen a la población el mayor acceso y gratuidad a los servicios, y los cambios acontecidos en los cuidados médicos, debidos en parte al reconocimiento creciente de una mayor autonomía de los pacientes y al uso creciente de nuevas tecnologías médicas, hace que se presenten algunas limitantes y dilemas en las unidades asistenciales y entre el personal de salud. La bioética en Nicaragua tiene un desarrollo incipiente: no está institucionalizada ni se han previsto los mecanismos formales que permitan resolver los problemas éticamente complejos, por lo tanto, constituye un gran reto por parte de las instituciones educativas y rectoras de la salud. PMID:20352016
Arroyo, Hiram V; Mantilla Uribe, Blanca P; Contreras Rengifo, Adolfo; Westphal, Marcia F; Mendes, Rosilda
2016-09-01
Los "Centros Colaboradores" de la Organización Mundial de la Salud (OMS) son instituciones designadas para prestar apoyo estratégico en el desarrollo de los objetivos y la ejecución de las actividades de la OMS, y para generar capacidad institucional en países y regiones. En las Américas existen ocho Centros Colaboradores directamente relacionados a la promoción de la salud. Cuatro centros se ubican en Norteamérica y los otros cuatro en América Latina. El propósito de este artículo es describir los Centros Colaboradores de la Región de América Latina. Los centros han sido importantes en el desarrollo de la agenda de promoción de la salud de la región, la consolidación de la estrategia de entornos saludables y el fortalecimiento de las redes académicas y profesionales de promoción de la salud. © The Author(s) 2015.
Perk Ablation Ameliorates Myelination in S63del-Charcot–Marie–Tooth 1B Neuropathy
Musner, Nicolò; Sidoli, Mariapaola; Zambroni, Desireè; Del Carro, Ubaldo; Ungaro, Daniela; D’Antonio, Maurizio; Feltri, Maria L.
2016-01-01
In peripheral nerves, P0 glycoprotein accounts for more than 20% of myelin protein content. P0 is synthesized by Schwann cells, processed in the endoplasmic reticulum (ER) and enters the secretory pathway. However, the mutant P0 with S63 deleted (P0S63del) accumulates in the ER lumen and induces a demyelinating neuropathy in Charcot–Marie–Tooth disease type 1B (CMT1B)–S63del mice. Accumulation of P0S63del in the ER triggers a persistent unfolded protein response. Protein kinase RNA-like endoplasmic reticulum kinase (PERK) is an ER stress sensor that phosphorylates eukaryotic initiation factor 2 alpha (eIF2alpha) in order to attenuate protein synthesis. We have shown that increasing phosphophorylated-eIF2alpha (P-eIF2alpha) is a potent therapeutic strategy, improving myelination and motor function in S63del mice. Here, we explore the converse experiment: Perk haploinsufficiency reduces P-eIF2alpha in S63del nerves as expected, but surprisingly, ameliorates, rather than worsens S63del neuropathy. Motor performance and myelin abnormalities improved in S63del//Perk+/− compared with S63del mice. These data suggest that mechanisms other than protein translation might be involved in CMT1B/S63del neuropathy. In addition, Perk deficiency in other cells may contribute to demyelination in a non–Schwann-cell autonomous manner. PMID:27095827
McGraw, K L; Zhang, L M; Rollison, D E; Basiorka, A A; Fulp, W; Rawal, B; Jerez, A; Billingsley, D L; Lin, H-Y; Kurtin, S E; Yoder, S; Zhang, Y; Guinta, K; Mallo, M; Solé, F; Calasanz, M J; Cervera, J; Such, E; González, T; Nevill, T J; Haferlach, T; Smith, A E; Kulasekararaj, A; Mufti, G; Karsan, A; Maciejewski, J P; Sokol, L; Epling-Burnette, P K; Wei, S; List, A F
2015-01-01
Nonsynonymous TP53 exon 4 single-nucleotide polymorphism (SNP), R72P, is linked to cancer and mutagen susceptibility. R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. Myelodysplastic syndrome (MDS) with chromosome 5q deletion is characterized by erythroid hypoplasia arising from lineage-specific p53 accumulation resulting from ribosomal insufficiency. We hypothesized that apoptotically diminished R72P C-allele may influence predisposition to del(5q) MDS. Bone marrow and blood DNA was sequenced from 705 MDS cases (333 del(5q), 372 non-del(5q)) and 157 controls. Genotype distribution did not significantly differ between del(5q) cases (12.6% CC, 38.1% CG, 49.2% GG), non-del(5q) cases (9.7% CC, 44.6% CG, 45.7% GG) and controls (7.6% CC, 37.6% CG, 54.8% GG) (P=0.13). Allele frequency did not differ between non-del(5q) and del(5q) cases (P=0.91) but trended towards increased C-allele frequency comparing non-del(5q) (P=0.08) and del(5q) (P=0.10) cases with controls. Median lenalidomide response duration increased proportionate to C-allele dosage in del(5q) patients (2.2 (CC), 1.3 (CG) and 0.89 years (GG)). Furthermore, C-allele homozygosity in del(5q) was associated with prolonged overall and progression-free survival and non-terminal interstitial deletions that excluded 5q34, whereas G-allele homozygozity was associated with inferior outcome and terminal deletions involving 5q34 (P=0.05). These findings comprise the largest MDS R72P SNP analysis. PMID:25768405
Martínez Carrión, José Miguel; Cámara, Antonio D; Pérez-Castroviejo, Pedro María
2016-12-12
Objetivo: analizar la geografía del estado nutricional en España y su evolución entre mediados del siglo xixy comienzos del siglo xx, etapa previa a la transición nutricional con alta prevalencia de malnutrición.Métodos: se utilizan datos antropométricos agregados (promedios provinciales de estatura) del reclutamiento militar en 1858 y 1913, así como promedios provinciales de estatura y peso procedentes de una revisión realizada entre 119.571 soldados en 1903-1906. Con estos datos se elaboran cartografía y estadísticos descriptivos.Resultados: los parámetros antropométricos de los españoles se situaban entre los valores de complexión más bajos de Europa antes de la transición nutricional. Entre 1858 y 1913, la altura media creció solo 1,43 cm. En ese periodo hubo cambios significativos en la geografía antropométrica marcados por la configuración de una polaridad nutricional a las puertas de la I Guerra Mundial: las provincias del centro y del sur de país exhiben mayor incidencia de la malnutrición crónica que las provincias del arco Noreste, que disfrutan de ventaja relativa en términos nutricionales.Conclusión:las desigualdades territoriales que configuraron una geografía polarizada del estado nutricional en España pueden asociarse en parte a los cambios ambientales del periodo, caracterizados por el inicio de la modernización y la industrialización y, asimismo, por la privación derivada de las crisis agrarias, las enfermedades y el relativo atraso tecnológico. Se destaca la relevancia de la historia antropométrica para el estudio de los niveles de vida en poblaciones del pasado y del proceso de transición nutricional.
Dusatkova, Petra; Pfäffle, Roland; Brown, Milton R; Akulevich, Natallia; Arnhold, Ivo J P; Kalina, Maria A; Kot, Karolina; Krzisnik, Ciril; Lemos, Manuel C; Malikova, Jana; Navardauskaite, Ruta; Obermannova, Barbora; Pribilincova, Zuzana; Sallai, Agnes; Stipancic, Gordana; Verkauskiene, Rasa; Cinek, Ondrej; Blum, Werner F; Parks, John S; Austerlitz, Frederic; Lebl, Jan
2016-03-01
Two variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) in the PROP1 gene are the most common genetic causes of recessively inherited combined pituitary hormones deficiency (CPHD). Our objective was to analyze in detail the origin of the two most prevalent variants. In the multicentric study were included 237 patients with CPHD and their 15 relatives carrying c.[301_302delAG];[301_302delAG] or c.[150delA];[150delA] or c.[301_302delAG];[ 150delA]. They originated from 21 different countries worldwide. We genotyped 21 single-nucleotide variant markers flanking the 9.6-Mb region around the PROP1 gene that are not in mutual linkage disequilibrium in the general populations--a finding of a common haplotype would be indicative of ancestral origin of the variant. Haplotypes were reconstructed by Phase and Haploview software, and the variant age was estimated using an allelic association method. We demonstrated the ancestral origin of both variants--c.[301_302delAG] was carried on 0.2 Mb-long haplotype in a majority of European patients arising ~101 generations ago (confidence interval 90.1-116.4). Patients from the Iberian Peninsula displayed a different haplotype, which was estimated to have emerged 23.3 (20.1-29.1) generations ago. Subsequently, the data indicated that both the haplotypes were transmitted to Latin American patients ~13.8 (12.2-17.0) and 16.4 (14.4-20.1) generations ago, respectively. The c.[150delA] variant that was carried on a haplotype spanning about 0.3 Mb was estimated to appear 43.7 (38.4-52.7) generations ago. We present strong evidence that the most frequent variants in the PROP1 gene are not a consequence of variant hot spots as previously assumed, but are founder variants.
Dusatkova, Petra; Pfäffle, Roland; Brown, Milton R; Akulevich, Natallia; Arnhold, Ivo JP; Kalina, Maria A; Kot, Karolina; Krzisnik, Ciril; Lemos, Manuel C; Malikova, Jana; Navardauskaite, Ruta; Obermannova, Barbora; Pribilincova, Zuzana; Sallai, Agnes; Stipancic, Gordana; Verkauskiene, Rasa; Cinek, Ondrej; Blum, Werner F; Parks, John S; Austerlitz, Frederic; Lebl, Jan
2016-01-01
Two variants (c.[301_302delAG][301_302delAG] and c.[150delA][150delA]) in the PROP1 gene are the most common genetic causes of recessively inherited combined pituitary hormones deficiency (CPHD). Our objective was to analyze in detail the origin of the two most prevalent variants. In the multicentric study were included 237 patients with CPHD and their 15 relatives carrying c.[301_302delAG][301_302delAG] or c.[150delA][150delA] or c.[301_302delAG][ 150delA]. They originated from 21 different countries worldwide. We genotyped 21 single-nucleotide variant markers flanking the 9.6-Mb region around the PROP1 gene that are not in mutual linkage disequilibrium in the general populations – a finding of a common haplotype would be indicative of ancestral origin of the variant. Haplotypes were reconstructed by Phase and Haploview software, and the variant age was estimated using an allelic association method. We demonstrated the ancestral origin of both variants – c.[301_302delAG] was carried on 0.2 Mb-long haplotype in a majority of European patients arising ~101 generations ago (confidence interval 90.1–116.4). Patients from the Iberian Peninsula displayed a different haplotype, which was estimated to have emerged 23.3 (20.1–29.1) generations ago. Subsequently, the data indicated that both the haplotypes were transmitted to Latin American patients ~13.8 (12.2–17.0) and 16.4 (14.4–20.1) generations ago, respectively. The c.[150delA] variant that was carried on a haplotype spanning about 0.3 Mb was estimated to appear 43.7 (38.4–52.7) generations ago. We present strong evidence that the most frequent variants in the PROP1 gene are not a consequence of variant hot spots as previously assumed, but are founder variants. PMID:26059845
NASA Astrophysics Data System (ADS)
Gonzalez Rivera, Maria M.
Se investigo el efecto de los mapas conceptuales sobre el dominio del proceso de fotosintesis en estudiantes universitarios. La investigacion utilizo dos estrategias: mapas conceptuales individuales y mapas conceptuales colaborativos, con el fin de investigar si existen diferencias significativas en el dominio del proceso de fotosintesis. El analisis de los datos incluyo aspectos cualitativos y cuantitativos. Se desprende del estudio que el 80% de los estudiantes describen la utilizacion de los mapas conceptuales como una experiencia beneficiosa. El 70% de los estudiantes expreso que los mapas conceptuales son utiles en el aprendizaje del proceso de fotosintesis y el 61% indico que facilitan la comprension de los conceptos. Los hallazgos mas importantes del analisis cuantitativo indican que los estudiantes que utilizaron los mapas conceptuales mejoraron significativamente su desempeno en la posprueba global. Se utilizo la prueba Mann-Whitney para investigar si existian diferencias significativas en la posprueba y preprueba global, el valor de W = 1945.0, para un valor p de 0.00, lo cual establece diferencias significativas. Para determinar si existian diferencias significativas entre la posprueba y preprueba del grupo individual, se realizo la prueba nuevamente. El valor de W correspondio a 490.5, que es significativo, con un valor p de 0.00. Se concluye que existen diferencias significativas entre la ejecucion de la posprueba y preprueba del grupo individual. Los datos proveen suficiente evidencia para sostener que los estudiantes que utilizaron la estrategia de mapas conceptuales individuales mejoraron el dominio del proceso de fotosintesis significativamente. Se realizo nuevamente la prueba para los resultados de posprueba y preprueba del grupo colaborativo. El valor de W correspondio a 446 con un valor p de 0.00. Se concluyo que existen diferencias significativas entre la ejecucion de la posprueba y preprueba del grupo colaborativo. Finalmente, se efectuo una prueba Mann-Whitney comparando la posprueba de ambos grupos. El valor de W fue de a 777, para un valor p de 0.2782. Aunque las puntuaciones de las pospruebas del grupo colaborativo fueron mayores que las puntuaciones de la posprueba del grupo individual, la diferencia no fue estadisticamente significativa.
Rah, HyungChul; Jeon, Young Joo; Choi, Youngsok; Shim, Sung Han; Yoon, Tae Ki; Choi, Dong Hee; Cha, Sun Hee; Kim, Nam Keun
2012-11-01
The aim of our study was to investigate whether methylenetetrahydrofolate reductase (MTHFR) gene variant (MTHFR 677C>T) and thymidylate synthase (TS) gene variants (TS enhancer region [TSER] and TS 1494del6) confer a risk for premature ovarian failure (POF). We genotyped 136 POF patients and 236 controls among Korean women for the three single nucleotide polymorphism sites using polymerase chain reaction restriction fragment length polymorphism analysis. Differences in the MTHFR 677C>T, TSER, and TS 1494del6 genotype frequencies between POF patients and controls were compared, and odds ratios (ORs) and 95% CIs were determined as a measure of the strength of the association between genotypes and POF. The MTHFR 677CT and CT + TT variant genotypes were more frequent in POF patients than in controls (OR, 2.249; 95% CI, 1.317-3.843; and OR, 2.132; 95% CI, 1.268-3.585, respectively). The combined genotype frequencies of MTHFR 677CT + TT/TSER 3R3R and 677CT + TT/TS 1494del6 del6/del6 were higher in patients than in controls (OR, 2.300; 95% CI, 1.219-4.337; and OR, 3.314; 95% CI, 1.623-6.767, respectively). The T-3R-del6 and T-2R-del6 (MTHFR 677C>T/TSER/TS 1494del6) haplotypes were more frequent in patients (OR, 1.450; 95% CI, 1.050-2.002; and OR, 2.911; 95% CI, 1.191-7.117, respectively), whereas the C-2R-del6 haplotype was less frequent in patients (OR, 0.372; 95% CI, 0.152-0.912). The T-del6 (MTHFR 677/TS 1494del6) haplotype frequency was higher among patients (OR, 1.653; 95% CI, 1.206-2.266), whereas the C-del6 haplotype frequency was lower among patients (OR, 0.700; 95% CI, 0.516-0.950). We did not find an association between TSER or TS 1494del6 polymorphisms and POF. Our data suggest that the MTHFR 677T allele may increase the risk for POF, which could lead to the development of novel genetic markers for predicting the risk of POF in patients.
Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications.
Muranen, Taru A; Greco, Dario; Fagerholm, Rainer; Kilpivaara, Outi; Kämpjärvi, Kati; Aittomäki, Kristiina; Blomqvist, Carl; Heikkilä, Päivi; Borg, Ake; Nevanlinna, Heli
2011-09-20
Checkpoint kinase 2 (CHEK2) is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about twofold. We investigated gene copy-number aberrations and gene-expression profiles that are typical for breast tumors of CHEK2 1100delC-mutation carriers. In total, 126 breast tumor tissue specimens including 32 samples from patients carrying CHEK2 1100delC were studied in array-comparative genomic hybridization (aCGH) and gene-expression (GEX) experiments. After dimensionality reduction with CGHregions R package, CHEK2 1100delC-associated regions in the aCGH data were detected by the Wilcoxon rank-sum test. The linear model was fitted to GEX data with R package limma. Genes whose expression levels were associated with CHEK2 1100delC mutation were detected by the bayesian method. We discovered four lost and three gained CHEK2 1100delC-related loci. These include losses of 1p13.3-31.3, 8p21.1-2, 8p23.1-2, and 17p12-13.1 as well as gains of 12q13.11-3, 16p13.3, and 19p13.3. Twenty-eight genes located on these regions showed differential expression between CHEK2 1100delC and other tumors, nominating them as candidates for CHEK2 1100delC-associated tumor-progression drivers. These included CLCA1 on 1p22 as well as CALCOCO1, SBEM, and LRP1 on 12q13. Altogether, 188 genes were differentially expressed between CHEK2 1100delC and other tumors. Of these, 144 had elevated and 44, reduced expression levels.Our results suggest the WNT pathway as a driver of tumorigenesis in breast tumors of CHEK2 1100delC-mutation carriers and a role for the olfactory receptor protein family in cancer progression. Differences in the expression of the 188 CHEK2 1100delC-associated genes divided breast tumor samples from three independent datasets into two groups that differed in their relapse-free survival time. We have shown that copy-number aberrations of certain genomic regions are associated with CHEK2 mutation 1100delC. On these regions, we identified potential drivers of CHEK2 1100delC-associated tumorigenesis, whose role in cancer progression is worth investigating. Furthermore, poorer survival related to the CHEK2 1100delC gene-expression signature highlights pathways that are likely to have a role in the development of metastatic disease in carriers of the CHEK2 1100delC mutation.
Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications
2011-01-01
Introduction Checkpoint kinase 2 (CHEK2) is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about twofold. We investigated gene copy-number aberrations and gene-expression profiles that are typical for breast tumors of CHEK2 1100delC-mutation carriers. Methods In total, 126 breast tumor tissue specimens including 32 samples from patients carrying CHEK2 1100delC were studied in array-comparative genomic hybridization (aCGH) and gene-expression (GEX) experiments. After dimensionality reduction with CGHregions R package, CHEK2 1100delC-associated regions in the aCGH data were detected by the Wilcoxon rank-sum test. The linear model was fitted to GEX data with R package limma. Genes whose expression levels were associated with CHEK2 1100delC mutation were detected by the bayesian method. Results We discovered four lost and three gained CHEK2 1100delC-related loci. These include losses of 1p13.3-31.3, 8p21.1-2, 8p23.1-2, and 17p12-13.1 as well as gains of 12q13.11-3, 16p13.3, and 19p13.3. Twenty-eight genes located on these regions showed differential expression between CHEK2 1100delC and other tumors, nominating them as candidates for CHEK2 1100delC-associated tumor-progression drivers. These included CLCA1 on 1p22 as well as CALCOCO1, SBEM, and LRP1 on 12q13. Altogether, 188 genes were differentially expressed between CHEK2 1100delC and other tumors. Of these, 144 had elevated and 44, reduced expression levels. Our results suggest the WNT pathway as a driver of tumorigenesis in breast tumors of CHEK2 1100delC-mutation carriers and a role for the olfactory receptor protein family in cancer progression. Differences in the expression of the 188 CHEK2 1100delC-associated genes divided breast tumor samples from three independent datasets into two groups that differed in their relapse-free survival time. Conclusions We have shown that copy-number aberrations of certain genomic regions are associated with CHEK2 mutation 1100delC. On these regions, we identified potential drivers of CHEK2 1100delC-associated tumorigenesis, whose role in cancer progression is worth investigating. Furthermore, poorer survival related to the CHEK2 1100delC gene-expression signature highlights pathways that are likely to have a role in the development of metastatic disease in carriers of the CHEK2 1100delC mutation. PMID:21542898
Recent advances on the encoding and selection methods of DNA-encoded chemical library.
Shi, Bingbing; Zhou, Yu; Huang, Yiran; Zhang, Jianfu; Li, Xiaoyu
2017-02-01
DNA-encoded chemical library (DEL) has emerged as a powerful and versatile tool for ligand discovery in chemical biology research and in drug discovery. Encoding and selection methods are two of the most important technological aspects of DEL that can dictate the performance and utilities of DELs. In this digest, we have summarized recent advances on the encoding and selection strategies of DEL and also discussed the latest developments on DNA-encoded dynamic library, a new frontier in DEL research. Copyright © 2016 Elsevier Ltd. All rights reserved.
Development and applications of groundwater remediation technologies in the USA
NASA Astrophysics Data System (ADS)
Barcelona, Michael J.
2005-03-01
The future of the development and application of groundwater remediation technologies will unfold in an atmosphere of heightened public concern and attention. Cleanup policy will undergo incremental change towards more comprehensive efforts which account for the impact of remediation on nearby resources. Newly discovered contaminants will cause the re-examination of "mature" technologies since they may be persistent, mobile and difficult to treat in-situ. Evaluations of the effectiveness of remedial technologies will eventually include by-product formation, geochemical consequences and sustainability. Long-term field trials of remedial technologies alone can provide the data necessary to support claims of effectiveness. Dans le futur, le développement et les applications des technologies de traitement des eaux souterraines seront déroulés en tenant compte de l'inquiétude et l'attention croissante de l'opinion publique. La politique de nettoyage va subir un changement vers des efforts plus compréhensifs qui prendront en compte l'impact du traitement sur les ressources voisines. Les nouveaux contaminants seront persistants, mobiles et difficile de traiter in situ; par conséquence ils vont provoquer la reexamination des technologies consacrées. L'évaluation de l'efficacité des technologies de traitement doit considérer l'apparition des produits secondaires ainsi que les conséquences géochimiques et le développement durable. Seulement les essais in situ, pendant des longues périodes sur les technologies peuvent fournir les éléments nécessaires pour démontrer leur efficacité. El futuro del desarrollo y de la aplicación de las tecnologías para la recuperación del agua subterránea, se revelará en una atmósfera de gran atención e interés público elevado. La política de limpieza sufrirá un cambio adicional hacia esfuerzos más tangibles, los cuales incluyan el impacto de la recuperación en los recursos circundantes. Los contaminantes recientemente descubiertos causarán la revisión de las tecnologías "maduras", pues aquellos pueden ser persistentes, móviles y difíciles para tratar in situ. Las evaluaciones de la efectividad de las tecnologías de recuperación, incluirán eventualmente la formación de subproductos, consecuencias geoquímicas y la sostenibilidad. Las experiencias de campo de largo plazo, que se han hecho aplicando tecnologías de recuperación, pueden por si solas suministrar los datos necesarios para soportar las afirmaciones sobre su efectividad.
A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.
Akoury, Elie; El Zir, Elie; Mansour, Ahmad; Mégarbané, André; Majewski, Jacek; Slim, Rima
2011-11-01
To identify the genetic defect in a Lebanese family with two sibs diagnosed with Usher Syndrome. Exome capture and sequencing were performed on DNA from one affected member using Agilent in solution bead capture, followed by Illumina sequencing. This analysis revealed the presence of a novel homozygous 5-bp deletion, in Clarin 1 (CLRN1), a known gene responsible for Usher syndrome type III. The deletion is inherited from both parents and segregates with the disease phenotype in the family. The 5-bp deletion, c.301_305delGTCAT, p.Val101SerfsX27, is predicted to result in a frameshift and protein truncation after 27 amino acids. Sequencing all the coding regions of the CLRN1 gene in the proband did not reveal any other mutation or variant. Here we describe a novel deletion in CLRN1. Our data support previously reported intra familial variability in the clinical features of Usher syndrome type I and III.
Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.
Li, Aijun; Li, Bingzhen; Wu, Lemeng; Yang, Liping; Chen, Ningning; Ma, Zhizhong
2015-04-01
To identiy the disease causing mutation in a Chinese family presenting with early-onset cataract and dental anomalies. A specific Hereditary Eye Disease Enrichment Panel (HEDEP) (personalized customization by MyGenostics, Baltimore, MD) based on targeted exome capture technology was used to collect the protein coding regions of 30 early-onset cataract associated genes, and high throughput sequencing was done with Illumina HiSeq 2000 platform. The identified variant was confirmed with Sanger sequencing. A novel deletion in exon 4 (c.852delG) of NHS gene was identified; the identified 1 bp deletion altered the reading frame and was predicted to result in a premature stop codon after the addition of twelve novel amino acid (p.S285PfsX13). This mutation co-segregated in affected males and obligate female carriers, but was absent in 100 matched controls. Our findings broaden the spectrum of NHS mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Suárez, D. Orozco; Ramos, A. Asensio; Bueno, J. Trujillo, E-mail: dorozco@iac.es
Proving the magnetic configuration of solar spicules has hitherto been difficult due to the lack of spatial resolution and image stability during off-limb ground-based observations. We report spectropolarimetric observations of spicules taken in the He i 1083 nm spectral region with the Tenerife Infrared Polarimeter II at the German Vacuum Tower Telescope of the Observatorio del Teide (Tenerife, Canary Islands, Spain). The data provide the variation with geometrical height of the Stokes I, Q, U, and V profiles, whose encoded information allows the determination of the magnetic field vector by means of the HAZEL inversion code. The inferred results showmore » that the average magnetic field strength at the base of solar spicules is about 80 gauss, and then it decreases rapidly with height to about 30 gauss at a height of 3000 km above the visible solar surface. Moreover, the magnetic field vector is close to vertical at the base of the chromosphere and has mid-inclinations (about 50°) above 2 Mm height.« less
CHEK2*1100delC homozygosity in the Netherlands—prevalence and risk of breast and lung cancer
Huijts, Petra EA; Hollestelle, Antoinette; Balliu, Brunilda; Houwing-Duistermaat, Jeanine J; Meijers, Caro M; Blom, Jannet C; Ozturk, Bahar; Krol-Warmerdam, Elly MM; Wijnen, Juul; Berns, Els MJJ; Martens, John WM; Seynaeve, Caroline; Kiemeney, Lambertus A; van der Heijden, Henricus F; Tollenaar, Rob AEM; Devilee, Peter; van Asperen, Christi J
2014-01-01
The 1100delC mutation in the CHEK2 gene has a carrier frequency of up to 1.5% in individuals from North-West Europe. Women heterozygous for 1100delC have an increased breast cancer risk (odds ratio 2.7). To explore the prevalence and clinical consequences of 1100delC homozygosity in the Netherlands, we genotyped a sporadic breast cancer hospital-based cohort, a group of non-BRCA1/2 breast cancer families, and breast tumors from a tumor tissue bank. Three 1100delC homozygous patients were found in the cohort of 1434 sporadic breast cancer patients, suggesting an increased breast cancer risk for 1100delC homozygotes (odds ratio 3.4, 95% confidence interval 0.4–32.6, P=0.3). Another 1100delC homozygote was found in 592 individuals from 108 non-BRCA1/2 breast cancer families, and two more were found after testing 1706 breast tumors and confirming homozygosity on their wild-type DNA. Follow-up data was available for five homozygous patients, and remarkably, three of them had developed contralateral breast cancer. A possible relationship between 1100delC and lung cancer risk was investigated in 457 unrelated lung cancer patients but could not be confirmed. Due to the small number of 1100delC homozygotes identified, the breast cancer risk estimate associated with this genotype had limited accuracy but is probably higher than the risk in heterozygous females. Screening for CHEK2 1100delC could be beneficial in countries with a relatively high allele frequency. PMID:23652375
Hashemi, Mohammad; Danesh, Hiva; Bizhani, Fatemeh; Mokhtari, Mojgan; Bahari, Gholamreza; Tabasi, Farhad; Taheri, Mohsen
2018-03-01
Recurrent spontaneous abortion (RSA) is a common health problem affecting women of reproductive age. Altered expression of vascular endothelial growth factor ( VEGF ) has been associated with spontaneous abortion. The present case-control study aimed to evaluate the impact of the 18-bp insertion/deletion (ins/del) polymorphism (rs35569394) in the promoter region of the VEGF gene on idiopathic RSA. Genomic DNA from 93 patients with RSA and 93 healthy fertile women of southeastern Iran was isolated using the salting-out method. Genotyping of the rs35569394 variant was performed by a polymerase chain reaction (PCR) method. The findings indicated that the VEGF 18-bp ins/del variant significantly increased the risk of RSA under codominant (ins/ins vs. del/del; OR=2.85, 95% CI=1.31-6.22, P=0.019), dominant (del/ins+ins/ins vs. del/del; OR=2.19, 95% CI=1.20-4.01, P=0.015) and allelic (ins vs. del; OR=1.90, 95% CI=1.25-2.88, P=0.003) inheritance models. In summary, the findings propose a significant association between the VEGF 18-bp ins/del polymorphism and risk of RSA in a sample of the southeast Iranian population. Further studies on larger sample sizes and different ethnicities are required to validate the present findings.
Bello, Luca; Campadello, Paola; Barp, Andrea; Fanin, Marina; Semplicini, Claudio; Sorarù, Gianni; Caumo, Luca; Calore, Chiara; Angelini, Corrado; Pegoraro, Elena
2016-09-01
We performed a 1-year longitudinal study of Six Minute Walk Test (6MWT), North Star Ambulatory Assessment (NSAA), and timed function tests in Becker muscular dystrophy (BMD). Skeletal muscle dystrophin was quantified by immunoblot. We grouped deletions ending on exon 45 ("del 45-x", n = 28) or 51 ("del x-51", n = 10); isolated exon 48 deletion ("del 48", n = 10); and other mutations (n = 21). Only patients in the "del 45-x" or "other" groups became non-ambulatory (n = 5, log-rank p = n.s.) or unable to run (n = 22, p < 0.001). All measures correlated positively with dystrophin quantity and negatively with age, and were significantly more impaired in the "del 45-x" and "other" groups. After one year, NSAA score decreased significantly (-0.9 ± 1.6, p < 0.001); in the "del 45-x" group, both NSAA (-1.3 ± 1.7, p = 0.001) and 6MWT (-12 ± 31 m, p = 0.059) decreased. We conclude that patients with "del x-51" or "del 48" mutations have mild or asymptomatic BMD, while "del 45-x" mutations cause comparatively severe weakness, and functional deterioration in 1 year. Furthermore, exon 51 skipping could be more effective than exon 45 skipping in Duchenne muscular dystrophy.
Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes.
Nagel, Jord H A; Peeters, Justine K; Smid, Marcel; Sieuwerts, Anieta M; Wasielewski, Marijke; de Weerd, Vanja; Trapman-Jansen, Anita M A C; van den Ouweland, Ans; Brüggenwirth, Hennie; van I Jcken, Wilfred F J; Klijn, Jan G M; van der Spek, Peter J; Foekens, John A; Martens, John W M; Schutte, Mieke; Meijers-Heijboer, Hanne
2012-04-01
CHEK2 1100delC is a moderate-risk cancer susceptibility allele that confers a high breast cancer risk in a polygenic setting. Gene expression profiling of CHEK2 1100delC breast cancers may reveal clues to the nature of the polygenic CHEK2 model and its genes involved. Here, we report global gene expression profiles of a cohort of 155 familial breast cancers, including 26 CHEK2 1100delC mutant tumors. In line with previous work, all CHEK2 1100delC mutant tumors clustered among the hormone receptor-positive breast cancers. In the hormone receptor-positive subset, a 40-gene CHEK2 signature was subsequently defined that significantly associated with CHEK2 1100delC breast cancers. The identification of a CHEK2 gene signature implies an unexpected biological homogeneity among the CHEK2 1100delC breast cancers. In addition, all 26 CHEK2 1100delC tumors classified as luminal intrinsic subtype breast cancers, with 8 luminal A and 18 luminal B tumors. This biological make-up of CHEK2 1100delC breast cancers suggests that a relatively limited number of additional susceptibility alleles are involved in the polygenic CHEK2 model. Identification of these as-yet-unknown susceptibility alleles should be aided by clues from the 40-gene CHEK2 signature.
Unidades del paisaje de Puerto Rico: la influencia del clima, el substrato y la topografia
William Gould; Michael E. Jimenez; Gary Potts; Maya Quinones; Sebastian Martinuzzi
2008-01-01
El mapa de unidades del paisaje de Puerto Rico representa variaciones climaticas, topograficas y del substrato mediante la integracion de seis zonas climaticas (Ewel y Whitmore, 1973), seis substratos (Bawiec, 2001; USGS, 2005), cinco posiciones topograficas, o topoformas (Martinuzzi et al. 2007), y cuerpos de agua (USGS 2005). Los substratos representan el conjunto...
Prodhan, P; Gossett, J M; Rycus, P T; Gupta, P
2015-11-01
The study objective was to evaluate outcomes among children with del22q11 (DiGeorge) syndrome supported on ECMO for heart disease. The ELSO registry database was queried to include all children <18 years undergoing heart surgery for either common atrio-ventricular canal, tetralogy of Fallot, truncus arteriosus or transposition of the great vessels and interrupted aortic arch and requiring ECMO, from 1998-2011. The outcomes evaluated included mortality, ECMO duration and length of hospital stay in patients with del22q11 syndrome and with no del22q11 syndrome. Eighty-eight ECMO runs occurred in children with del22q11 syndrome while 2694 ECMO runs occurred in children without del22q11 syndrome. For patients with heart defects receiving ECMO, del22q11 syndrome did not confer a significant mortality risk or an increased risk of infectious complications before or while on ECMO support. Neither the duration of ECMO nor mechanical ventilation prior to ECMO deployment were prolonged in patients with del22q11 syndrome compared to the controls. © The Author(s) 2015.
NASA Astrophysics Data System (ADS)
Lin, Nian-Feng; Tang, Jie; Han, Feng-Xiang
2001-02-01
Since ancient times, water resources, mainly from melting snow in the high mountains, have nourished a large area of an oasis in the Kashi Plain in the western Terim Basin, China. In the last half-century, however, the rapid growth of population and the overexploitation of water, soil, and biological resources have led to drought, salinization, and desertification in the area, and consequently have hindered the development of sustainable agriculture. In this study, groundwater reservoirs with sustainable water supplies equivalent to 44.65×108 m3/year were identified, which has made it possible to implement several projects in the area to improve the ecological and agricultural environment. Three strategies are proposed for the integrated development and management of both surface-water and groundwater resources in the area. Résumé. Depuis des temps anciens, les ressources en eaux, provenant surtout de la fonte des neiges en montagne, ont alimenté une large part d'une oasis de la plaine de Kashi, dans le bassin occidental de Terim (Chine). Au cours des derniers cinquante ans, toutefois, l'accroissement rapide de la population et la surexploitation de l'eau, des sols et des ressources biologiques ont provoqué la sécheresse, la salinisation et la désertification de la région cela a eu pour conséquence d'entraver le développement d'une agriculture durable. Cette étude identifie les réserves en eau souterraine, susceptibles de fournir durablement 44,65×108 m3/an, ce qui a permis de réaliser plusieurs projets dans cette région pour améliorer l'environnement écologique et agricole. Trois stratégies sont proposées pour le développement intégré et la gestion simultanée des ressources en eau de surface et en eau souterraine de cette région. Resumen. Los recursos hídricos, procedentes fundamentalmente del deshielo en alta montaña, han nutrido desde tiempo inmemorial una gran área de un oasis situado en las llanuras de Kashi, en la cuenca occidental de Terim (China). Sin embargo, en la última mitad de siglo, el rápido aumento de población y la sobreexplotación de los recursos hídricos, pedológicos y biológicos han producido la sequía, salinización y desertificación en la zona, y, por consiguiente, han obstaculizado el desarrollo de una agricultura sostenible. En este estudio, se identificaron reservorios de agua subterránea con unos recursos equivalentes a 44,65×108 m3/a, hecho que ha permitido establecer varios proyectos en el área para mejorar el medio ambiente ecológico y agrícola. Se proponen tres estrategias para el desarrollo integrado y la gestión en la zona, tanto de los recursos superficiales como de los subterráneos.
Varga, Elizabeth; Chao, Elizabeth C; Yeager, Nicholas D
2015-09-01
Next-generation sequencing (NGS) technology is increasingly utilized to identify therapeutic targets for patients with malignancy. This technology also has the capability to reveal the presence of constitutional genetic alterations, which may have significant implications for patients and their family members. Here we present the case of a 23 year old Caucasian patient with recurrent undifferentiated sarcoma who had NGS-based tumor analysis using an assay which simultaneously analyzed the entire coding sequence of 236 cancer-related genes (3769 exons) plus 47 introns from 19 genes often rearranged or altered in cancer. Pathogenic alterations were reported in tumor as the predicted protein alterations, BRCA2 "R645fs*15″ and MLH1 "E694*". Because constitutional BRCA2 and MLH1 gene mutations are associated with Hereditary Breast Ovarian Cancer Syndrome (HBOCS) and Lynch syndrome respectively, sequence analysis of DNA isolated from peripheral blood was performed. The presence of the alterations, BRCA2 c.1929delG and MLH1 c.2080G>T, corresponding to the previously reported predicted protein alterations, were confirmed by Sanger sequencing in the constitutional DNA. An additional DNA finding was reported in this analysis, MLH1 c.2081A>C at the neighboring nucleotide. Further evaluation of the family revealed that all alterations were paternally inherited and the two MLH1 substitutions were in cis, more appropriately referred to as MLH1 c.2080_2081delGAinsTC, which is classified as a variant of uncertain significance. This case illustrates important considerations related to appropriate interpretation of NGS tumor results and follow-up of patients with potentially deleterious constitutional alterations.
Zheng, Jun; Liu, Hong; Wang, Yuquan; Wang, Lanfen; Chang, Xiaoping; Jing, Ruilian; Hao, Chenyang; Zhang, Xueyong
2014-01-01
In this study, TaTEF-7A, a member of the transcript elongation factor gene family, and its flanking sequences were isolated. TaTEF-7A was located on chromosome 7A and was flanked by markers Xwmc83 and XP3156.3. Subcellular localization revealed that TaTEF-7A protein was localized in the nucleus. This gene was expressed in all organs, but the highest expression occurred in young spikes and developing seeds. Overexpression of TaTEF-7A in Arabidopsis thaliana produced pleiotropic effects on vegetative and reproductive development that enhanced grain length, silique number, and silique length. No diversity was found in the coding region of TaTEF-7A, but 16 single nucleotide polymorphisms and Indels were detected in the promoter regions of different cultivars. Markers based on sequence variations in the promoter regions (InDel-629 and InDel-604) were developed, and three haplotypes were identified based on those markers. Haplotype–trait association analysis of the Chinese wheat mini core collection revealed that TaTEF-7A was significantly associated with grain number per spike. Phenotyping of near-isogenic lines (NILs) confirmed that TaTEF-7A increases potential grain yield and yield-related traits. Frequency changes in favoured haplotypes gradually increased in cultivars released in China from the 1940s. Geographic distributions of favoured haplotypes were characterized in six major wheat production regions worldwide. The presence of Hap-7A-3, the favoured haplotype, showed a positive correlation with yield in a global set of breeding lines. These results suggest that TaTEF-7A is a functional regulatory factor for grain number per spike and provide a basis for marker-assisted selection. PMID:25056774
Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation
Li, Tao; Zhang, Zhao-jing; Ma, Xin; Lv, Xue; Xiao, Hai; Guo, Qian-nan; Liu, Hong-yan; Wang, Hong-dan; Wu, Dong; Lou, Gui-yu; Wang, Xin; Zhang, Chao-yang; Liao, Shi-xiu
2017-01-01
Abstract Background: Patients with Duchenne muscular dystrophy (DMD) usually have severe and fatal symptoms. At present, there is no effective treatment for DMD, thus it is very important to avoid the birth of children with DMD by effective prenatal diagnosis. We identified a de novo DMD gene mutation in a Chinese family, and make a prenatal diagnosis. Methods: First, multiplex ligation-dependent probe amplification (MLPA) was applied to analyze DMD gene exon deletion/duplication in all family members. The coding sequences of 79 exons in DMD gene were analyzed by Sanger sequencing in the patient; and then according to DMD gene exon mutation in the patient, DMD gene sequencing was performed in the family members. On the basis of results above, the pathogenic mutation in DMD gene was identified. Results: MLPA showed no DMD gene exon deletion/duplication in all family members. Sanger sequencing revealed c.2767_2767delT [p.Ser923LeufsX26] mutation in DMD gene of the patient. Heterozygous deletion mutation (T/-) at this locus was observed in the pregnant woman and her mother and younger sister. The analyses of amniotic fluid samples indicated negative Y chromosome sex-determining gene, no DMD gene exon deletion/duplication, no mutations at c.2767 locus, and the inherited maternal X chromosome different from that of the patient. Conclusion: The pathogenic mutation in DMD gene, c.2767_2767delT [p.Ser923LeufsX26], identified in this family is a de novo mutation. On the basis of specific conditions, it is necessary to select suitable methods to make prenatal diagnosis more effective, accurate, and economic. PMID:29390271
Bosch, Jason; Noubiap, Jean Jacques N; Dandara, Collet; Makubalo, Nomlindo; Wright, Galen; Entfellner, Jean-Baka Domelevo; Tiffin, Nicki; Wonkam, Ambroise
2014-11-01
Mutations in the GJB2 gene, encoding connexin 26, could account for 50% of congenital, nonsyndromic, recessive deafness cases in some Caucasian/Asian populations. There is a scarcity of published data in sub-Saharan Africans. We Sanger sequenced the coding region of the GJB2 gene in 205 Cameroonian and Xhosa South Africans with congenital, nonsyndromic deafness; and performed bioinformatic analysis of variations in the GJB2 gene, incorporating data from the 1000 Genomes Project. Amongst Cameroonian patients, 26.1% were familial. The majority of patients (70%) suffered from sensorineural hearing loss. Ten GJB2 genetic variants were detected by sequencing. A previously reported pathogenic mutation, g.3741_3743delTTC (p.F142del), and a putative pathogenic mutation, g.3816G>A (p.V167M), were identified in single heterozygous samples. Amongst eight the remaining variants, two novel variants, g.3318-41G>A and g.3332G>A, were reported. There were no statistically significant differences in allele frequencies between cases and controls. Principal Components Analyses differentiated between Africans, Asians, and Europeans, but only explained 40% of the variation. The present study is the first to compare African GJB2 sequences with the data from the 1000 Genomes Project and have revealed the low variation between population groups. This finding has emphasized the hypothesis that the prevalence of mutations in GJB2 in nonsyndromic deafness amongst European and Asian populations is due to founder effects arising after these individuals migrated out of Africa, and not to a putative "protective" variant in the genomic structure of GJB2 in Africans. Our results confirm that mutations in GJB2 are not associated with nonsyndromic deafness in Africans.
Razmara, Ehsan; Bitarafan, Fatemeh; Esmaeilzadeh-Gharehdaghi, Elika; Almadani, Navid; Garshasbi, Masoud
2018-03-01
Targeted next-generation sequencing (NGS) provides a consequential opportunity to elucidate genetic factors in known diseases, particularly in profoundly heterogeneous disorders such as non-syndromic hearing loss (NSHL). Hearing impairments could be classified into syndromic and non-syndromic types. This study intended to assess the significance of mutations in these genes to the autosomal recessive/dominant non-syndromic genetic load among Iranian families. Two families were involved in this research and two patients were examined by targeted next-generation sequencing. Here we report two novel mutations in the MYO7A and EYA1 genes in two patients detected by targeted NGS. They were confirmed by Sanger sequencing and quantitative real-time PCR techniques. In this investigation, we identified a novel mutation in MYO7A , c.3751G>C, p.A1251P, along with another previously identified mutation (c.1708C>T) in one of the cases. This mutation is located in the MYTH4 protein domain which is a pivotal domain for the myosin function. Another finding in this research was a novel de-novo deletion which deletes the entire EYA1 coding region (EX1-18 DEL). Mutations in EYA1 gene have been found in branchiootorenal (BOR) syndrome. Interestingly the patient with EYA1 deletion did not show any other additional clinical implications apart from HL. This finding might argue for the sole involvement of EYA1 function in the mechanism of hearing. This investigation exhibited that the novel mutations in MYO7A , c.3751G>C, p.A1251P, and EYA1 , EX1-18 DEL, were associated with NSHL. Our research increased the mutation spectrum of hearing loss in the Iranian population.
Puiggros, Anna; Venturas, Marta; Salido, Marta; Blanco, Gonzalo; Fernandez-Rodriguez, Concepción; Collado, Rosa; Valiente, Alberto; Ruiz-Xivillé, Neus; Carrió, Ana; Ortuño, Francisco José; Luño, Elisa; Calasanz, María José; Ardanaz, María Teresa; Piñán, María Ángeles; Talavera, Elisabet; González, María Teresa; Ortega, Margarita; Marugán, Isabel; Ferrer, Ana; Gimeno, Eva; Bellosillo, Beatriz; Delgado, Julio; Hernández, José Ángel; Hernández-Rivas, Jesús María; Espinet, Blanca
2014-09-01
Deletion of 13q14 as the sole abnormality is a good prognostic marker in chronic lymphocytic leukemia (CLL). Nonetheless, the prognostic value of reciprocal 13q14 translocations [t(13q)] with related 13q losses has not been fully elucidated. We described clinical and biological characteristics of 25 CLL patients with t(13q), and compared with 62 patients carrying interstitial del(13q) by conventional G-banding cytogenetics (CGC) [i-del(13q)] and 295 patients with del(13q) only detected by fluorescence in situ hybridization (FISH) [F-del(13q)]. Besides from the CLL FISH panel (D13S319, CEP12, ATM, TP53), we studied RB1 deletions in all t(13q) cases and a representative group of i-del(13q) and F-del(13q). We analyzed NOTCH1, SF3B1, and MYD88 mutations in t(13q) cases by Sanger sequencing. In all, 25 distinct t(13q) were described. All these cases showed D13S319 deletion while 32% also lost RB1. The median percentage of 13q-deleted nuclei did not differ from i-del(13q) patients (73% vs. 64%), but both were significantly higher than F-del(13q) (52%, P < 0.001). Moreover, t(13q) patients showed an increased incidence of biallelic del(13q) (52% vs. 11.3% and 14.9%, P < 0.001) and higher rates of concomitant 17p deletion (37.5% vs. 8.6% and 7.2%, P < 0.001). RB1 involvement was significantly higher in the i-del(13q) group (79%, P < 0.001). Two t(13q) patients (11.8%) carried NOTCH1 mutations. Time to first treatment in t(13q) and i-del(13q) was shorter than F-del(13q) (67, 44, and 137 months, P = 0.029), and preserved significance in the multivariate analysis. In conclusion, t(13q) and del(13q) patients detected by CGC constitute a subgroup within the 13q-deleted CLL patients associated with a worse clinical outcome. © 2014 Wiley Periodicals, Inc.
se cuenta con los fondos necesarios para efectuar el Programa PIA para el 2018. We do, on occasion Observatorio Inter-Americano de Cerro Tololo es el centro nacional de los Estados Unidos para el desarrollo de unos 400 kms al norte de Santiago. Los telescopios se ubican en la cima de Cerro Tololo, a 90 kms al
ERIC Educational Resources Information Center
Phillips, Carol Brunson, Ed.
A study guide for the Child Development Associate (CDA) Professional Preparation Program, this Spanish-language guidebook contains essential information on the basics of good professional practice for early childhood educators. It includes self-study activities, checklists, and resources for additional information. Unit 1 provides an overview of…
ERIC Educational Resources Information Center
Boletin del Centro Nacional de Documentacion e Informacion Educativa, 1971
1971-01-01
This article discusses the education provisions established in the Argentine Plan for Development and Security (1971-1975). The statements on educational development call for a diagnostic study of the current cultural and educational situation, the establishment of objectives and strategies, goals for each level of education, steps for the…
Katz, Gregorio; Corona, Edgar; Lazcano-Ponce, Eduardo
2016-08-01
This paper describes an innovative institution, Capacitación y Desarrollo Integral AC (CADI - Comprehensive Training and Development), created in Mexico to develop evidence-based interventions grounded in the principles of inclusion, independence, social and health equity that promote the well-being of persons with intellectual developmental disorder older than 14 years.
Comunicado de prensa de la EPA: El Alcalde José Carlos Aponte Dalmau del Municipio de Carolina es nombrado a formar parte del Comité Asesor de Gobiernos Locales de la EPA a nivel de todos los Estados Unidos
Adank, Muriel A; Verhoef, Senno; Oldenburg, Rogier A; Schmidt, Marjanka K; Hooning, Maartje J; Martens, John W M; Broeks, Annegien; Rookus, Matti; Waisfisz, Quinten; Witte, Birgit I; Jonker, Marianne A; Meijers-Heijboer, Hanne
2013-05-01
The CHEK2∗1100delC mutation confers a relative risk of two for breast cancer (BC) in the general population. This study aims to explore the excess cancer risk due to the CHEK2∗1100delC mutation within a familial non-BRCA1/2 breast cancer setting. Cancer incidences were compared between first degree relatives of 107 familial breast cancer patients positive for the CHEK2∗1100delC mutation (CHEK2 positive families) and first degree relatives of 314 familial breast cancer patients without the CHEK2∗1100delC mutation (CHEK2 negative families). All families were derived from the same pool of familial non-BRCA1/2 breast cancer families (n=2554). Medical information of 2188 first degree relatives of these families was analysed for cancer risk. CHEK2∗1100delC status of relatives was unknown. Increased breast cancer risk (hazard ratio (HR) 2.0 (95% confidence interval (CI): 1.4-2.7), p<0.001) was observed in sisters of CHEK2∗1100delC positive index cases compared to sisters of CHEK2∗1100delC negative index cases. HR was 1.6 (95% CI: 1.0-2.4) for mothers of CHEK2 positive versus negative index cases (p=0.041). For second primary breast cancers HR was increased in CHEK2∗1100delC positive index cases (HR 2.1, 95% CI: 1.3-3.3, p=0.003) and their sisters (HR 2.6, 95% CI: 1.1-6.1, p=0.025). There is an excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive non-BRCA1/2 familial breast cancer patients compared to non-CHEK2∗1100delC familial breast cancer relatives. Genotyping for the CHEK2∗1100delC mutation in a familial breast cancer setting contributes to optimal clinical surveillance in countries in which this mutation is prevalent. Carriers and female relatives are eligible for stringent breast surveillance programs. Copyright © 2013 Elsevier Ltd. All rights reserved.
Meng, Xin; Wang, Yiting; Wang, Xiaomeng; Wrennall, Joe A; Rimington, Tracy L; Li, Hongyu; Cai, Zhiwei; Ford, Robert C; Sheppard, David N
2017-03-03
Cystic fibrosis (CF) is caused by mutations that disrupt the plasma membrane expression, stability, and function of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl - channel. Two small molecules, the CFTR corrector lumacaftor and the potentiator ivacaftor, are now used clinically to treat CF, although some studies suggest that they have counteracting effects on CFTR stability. Here, we investigated the impact of these compounds on the instability of F508del-CFTR, the most common CF mutation. To study individual CFTR Cl - channels, we performed single-channel recording, whereas to assess entire CFTR populations, we used purified CFTR proteins and macroscopic CFTR Cl - currents. At 37 °C, low temperature-rescued F508del-CFTR more rapidly lost function in cell-free membrane patches and showed altered channel gating and current flow through open channels. Compared with purified wild-type CFTR, the full-length F508del-CFTR was about 10 °C less thermostable. Lumacaftor partially stabilized purified full-length F508del-CFTR and slightly delayed deactivation of individual F508del-CFTR Cl - channels. By contrast, ivacaftor further destabilized full-length F508del-CFTR and accelerated channel deactivation. Chronic (prolonged) co-incubation of F508del-CFTR-expressing cells with lumacaftor and ivacaftor deactivated macroscopic F508del-CFTR Cl - currents. However, at the single-channel level, chronic co-incubation greatly increased F508del-CFTR channel activity and temporal stability in most, but not all, cell-free membrane patches. We conclude that chronic lumacaftor and ivacaftor co-treatment restores stability in a small subpopulation of F508del-CFTR Cl - channels but that the majority remain destabilized. A fuller understanding of these effects and the characterization of the small F508del-CFTR subpopulation might be crucial for CF therapy development. © 2017 by The American Society for Biochemistry and Molecular Biology, Inc.
Carranza, Hernán; Vargas, Carlos; Otero, Jorge; Corrales-Rodriguez, Luis; Martín, Claudio; Reguart, Noemí; Archila, Pilar; Rodríguez, July; Cuello, Mauricio; Ortíz, Carlos; Franco, Sandra; Rolfo, Christian; Rosell, Rafael
2016-01-01
Background Germline alterations in the proapoptotic protein Bcl-2-like 11 (BIM) can have a crucial role in diverse tumors. To determine the clinical utility of detecting BIM deletion polymorphisms (par4226 bp/ par363 bp) in EGFR positive non-small-cell lung cancer (NSCLC) we examined the outcomes of patients with and without BIM alterations. Results BIM deletion was present in 14 patients (15.7%). There were no significant differences between patients with and without BIM-del in clinical characteristics or EGFR mutation type; however, those with BIM-del had a worse overall response rate (ORR) to erlotinib (42.9% vs. 73.3% in patients without BIM-del; p=0.024) as well as a significantly shorter progression-free survival (PFS) (10.8 BIM-del+ vs. 21.7 months for patients without BIM-del; p=0.029) and overall survival (OS) (15.5 BIM-del+ vs. 34.0 months for patients without BIM-del; p=0.035). Multivariate Cox regression analysis showed that BIM-del+ was an independent indicator of shorter PFS (HR 3.0; 95%CI 1.2-7.6; p=0.01) and OS (HR 3.4; 95%CI 1.4-8.3; p=0.006). Methods We studied 89 NSCLC Hispanic patients with EGFR mutation who were treated with erlotinib between January 2009 and November 2014. BIM deletion polymorphisms (BIM-del) was analyzed by PCR in formalin-fixed paraffin-embedded (FFPE) tissues of tumor biopsies. We retrospectively analyzed clinical characteristics, response rate, toxicity, and outcomes among patients with and without BIM-del. Conclusions The incidence of BIM-del found in Hispanic patients is similar to that previously described in Asia. This alteration is associated with a poor clinical response to erlotinib and represents an independent prognostic factor for patients who had NSCLC with an EGFR mutation. PMID:27926478
Cardona, Andrés F; Rojas, Leonardo; Wills, Beatriz; Arrieta, Oscar; Carranza, Hernán; Vargas, Carlos; Otero, Jorge; Corrales-Rodriguez, Luis; Martín, Claudio; Reguart, Noemí; Archila, Pilar; Rodríguez, July; Cuello, Mauricio; Ortíz, Carlos; Franco, Sandra; Rolfo, Christian; Rosell, Rafael; on behalf of the CLICaP
2016-09-19
Germline alterations in the proapoptotic protein Bcl-2-like 11 (BIM) can have a crucial role in diverse tumors. To determine the clinical utility of detecting BIM deletion polymorphisms (par4226 bp/ par363 bp) in EGFR positive non-small-cell lung cancer (NSCLC) we examined the outcomes of patients with and without BIM alterations. BIM deletion was present in 14 patients (15.7%). There were no significant differences between patients with and without BIM-del in clinical characteristics or EGFR mutation type; however, those with BIM-del had a worse overall response rate (ORR) to erlotinib (42.9% vs. 73.3% in patients without BIM-del; p=0.024) as well as a significantly shorter progression-free survival (PFS) (10.8 BIM-del+ vs. 21.7 months for patients without BIM-del; p=0.029) and overall survival (OS) (15.5 BIM-del+ vs. 34.0 months for patients without BIM-del; p=0.035). Multivariate Cox regression analysis showed that BIM-del+ was an independent indicator of shorter PFS (HR 3.0; 95%CI 1.2-7.6; p=0.01) and OS (HR 3.4; 95%CI 1.4-8.3; p=0.006). We studied 89 NSCLC Hispanic patients with EGFR mutation who were treated with erlotinib between January 2009 and November 2014. BIM deletion polymorphisms (BIM-del) was analyzed by PCR in formalin-fixed paraffin-embedded (FFPE) tissues of tumor biopsies. We retrospectively analyzed clinical characteristics, response rate, toxicity, and outcomes among patients with and without BIM-del. The incidence of BIM-del found in Hispanic patients is similar to that previously described in Asia. This alteration is associated with a poor clinical response to erlotinib and represents an independent prognostic factor for patients who had NSCLC with an EGFR mutation.
El uso de la neuromodulación para el tratamiento del temblor
Bendersky, Damián; Ajler, Pablo; Yampolsky, Claudio
2014-01-01
Introducción: El temblor puede ser un desorden incapacitante y el tratamiento de primera línea para estos pacientes es farmacológico. Sin embargo, este tratamiento puede llevar a una reducción satisfactoria del temblor en sólo el 50% de los pacientes con temblor esencial. La talamotomía era el tratamiento de elección para el temblor refractario al tratamiento médico hasta que comenzó a utilizarse la estimulación cerebral profunda (ECP) del núcleo ventral intermedio (Vim) del tálamo. En la actualidad, raramente se realiza la talamotomía. Métodos: Este artículo es una revisión no sistemática de las indicaciones, resultados, parámetros de programación y técnica quirúrgica de la ECP del Vim para el tratamiento del temblor. Resultados: Aunque los resultados clínicos son similares usando la talamotomía o la ECP del Vim, la primera causa más efectos adversos que la última. Además, la ECP puede ser usada bilateralmente, mientras que la talamotomía tiene un alto riesgo de causar disartria cuando se realiza de ambos lados. La ECP del Vim logró una adecuada mejoría del temblor en varias series de pacientes con temblor causado por temblor esencial, enfermedad de Parkinson o esclerosis múltiple. Además del Vim, hay otros blancos que están siendo usados por varios autores, tales como la zona incerta y las radiaciones prelemniscales. Conclusión: La ECP del Vim es un tratamiento útil para el temblor incapacitante refractario al tratamiento médico. Es esencial realizar una precisa selección de pacientes, así como utilizar una técnica quirúrgica correcta. Aún se desconoce el mejor blanco estereotáctico para el temblor, aunque el Vim es el más usado. PMID:25165613
Pérez-Flores, Juan Emmanuel; Chávez-Tostado, Mariana; Larios-Del-Toro, Youné Elizabeth; García-Rentería, Jesús; Rendrón-Félix, Jorge; Salazar-Parra, Marcela; Irusteta-Jiménez, Leire; Michel-Espinoza, Luis Rodrigo; Márquez-Valdez, Aída Rebeca; Cuesta-Márquez, Lisbeth; Álvarez-Villaseñor, Andrea Socorro; Fuentes-Orozco, Clotilde; González Ojeda, Alejandro
2016-07-19
Introducción: la desnutrición intrahospitalaria se ha descrito hace más de 70 años como un problema frecuente. En México se reportan cifras de entre el 20% al 50%; sin embargo no se ha estudiado su prevalencia ni su asociación con la morbilidad y mortalidad hospitalaria.Objetivos: evaluar el estado nutricional y su relación con la morbimortalidad hospitalaria en pacientes mexicanos.Métodos: cohorte prospectiva de pacientes que ingresaron en un hospital de referencia para una estancia hospitalaria mayor de 5 días. Se capturó peso, talla, índice de masa corporal (IMC), estado nutricional de acuerdo con la valoración global subjetiva (VGS) a su ingreso y egreso hospitalario, así como diagnóstico médico, complicaciones y mortalidad. Los datos fueron analizados mediante la prueba T de Student, prueba Chi-cuadrado y prueba Exacta de Fisher.Resultados: se incluyeron 610 pacientes en total, con un promedio de edad de 50,8 ± 17,32 años, 267 mujeres (43,8%) y 343 hombres (56,2%). Del total, 154 fueron catalogados con sospecha de desnutrición o desnutrición (pacientes expuestos, 25,2%) y 456 bien nutridos (pacientes no expuestos, 74,8%), con una relación de 1 a 3. La morbilidad total de la cohorte tuvo un RR = 2,70, IC 95 % (2,06-3,55) y la mortalidad con un RR = 2,64, IC 95% (1,74-4,0), siendo ambas estadísticamente significativas (p = 0,001).Conclusiones: el diagnóstico de desnutrición al ingreso hospitalario constituye un factor de riesgo para el desarrollo de complicaciones y mortalidad. Este padecimiento al ingreso en comparación con el paciente que no presenta desnutrición incrementó el riesgo de mortalidad hasta en 2.64 veces.
La salud en personas con discapacidad intelectual en España: estudio europeo POMONA-II
Martínez-Leal, Rafael; Salvador-Carulla, Luis; Gutiérrez-Colosía, Mencía Ruiz; Nadal, Margarida; Novell-Alsina, Ramón; Martorell, Almudena; González-Gordón, Rodrigo G.; Mérida-Gutiérrez, M. Reyes; Ángel, Silvia; Milagrosa-Tejonero, Luisa; Rodríguez, Alicia; García-Gutiérrez, Juan C.; Pérez-Vicente, Amado; García-Ibáñez, José; Aguilera-Inés, Francisco
2011-01-01
Introducción Estudios internacionales demuestran que existe un patrón diferenciado de salud y una disparidad en la atención sanitaria entre personas con discapacidad intelectual (DI) y población general. Objetivo Obtener datos sobre el estado de salud de las personas con DI y compararlos con datos de población general. Pacientes y métodos Se utilizó el conjunto de indicadores de salud P15 en una muestra de 111 sujetos con DI. Los datos de salud encontrados se compararon según el tipo de residencia de los sujetos y se utilizó la Encuesta Nacional de Salud 2006 para comparar estos datos con los de la población general. Resultados La muestra con DI presentó 25 veces más casos de epilepsia y el doble de obesidad. Un 20% presentó dolor bucal, y existió una alta presencia de problemas sensoriales, de movilidad y psicosis. Sin embargo, encontramos una baja presencia de patologías como la diabetes, la hipertensión, la osteoartritis y la osteoporosis. También presentaron una menor participación en programas de prevención y promoción de la salud, un mayor número de ingresos hospitalarios y un uso menor de los servicios de urgencia. Conclusiones El patrón de salud de las personas con DI difiere del de la población general, y éstas realizan un uso distinto de los servicios sanitarios. Es importante el desarrollo de programas de promoción de salud y de formación profesional específicamente diseñados para la atención de personas con DI, así como la implementación de encuestas de salud que incluyan datos sobre esta población. PMID:21948011
Mitigating the effect of development on bats in England with derogation licensing.
Stone, Emma Louise; Jones, Gareth; Harris, Stephen
2013-12-01
The Convention on Biological Diversity has catalyzed worldwide awareness of threats to biological diversity and stimulated global conservation strategies. These have led to national and international legislation and have generated debate about the most effective conservation actions. Under the EU Habitats Directive, all member states are obliged to establish a system for strict protection of species listed in Annex IV(a), which includes all bats. In England, this obligation has resulted in legislation that allows for derogation from strict protection under license, provided activities are undertaken to mitigate any potential negative effects on bat numbers. We used an evidence-based approach to assess the cost-effectiveness of mitigation strategies and the English bat-derogation licensing process as a whole. We analyzed data from 389 bat derogation licenses issued in England from 2003 to 2005 relating to 1776 roosts and 15 species to determine the nature and extent of development and mitigation activities and their effects on bats. Overall the effects of licensed activities on roosts were negative. Despite the level of protection afforded to bats, the majority (68%) of roosts for which derogation licenses were issued were destroyed. There were species-specific differences in the probability of roosts being destroyed, and impacts on roosts did not reflect a species' conservation status. Information provided by licensees was inadequate and inconsistent. Most licensees (67%) failed to submit postdevelopment reports, and postdevelopment monitoring was conducted at only 19% of sites. Despite a minimum of £4.13 million spent on mitigation structures for bats from 2003 to 2005, it was unclear whether the licensing process meets EU obligations. On the basis of our results, we believe there is a need to overhaul the licensing process, to establish a comprehensive, standardized postdevelopment monitoring system, and to demonstrate that mitigation is commensurate with Britain's legal obligations. Mitigando el Efecto del Desarrollo sobre los Murciélagos en Inglaterra con Licencias de Derogación. © 2013 Society for Conservation Biology.
Max Brödel: his art, legacy, and contributions to neurosurgery through medical illustration.
Patel, Smruti K; Couldwell, William T; Liu, James K
2011-07-01
Max Brödel is considered the father of modern medical illustration. This report reviews his contributions to neurosurgery as a medical illustrator. Max Brödel, a young artist from Leipzig, Germany, was hired at Johns Hopkins Hospital in 1894, where he illustrated an operative textbook of gynecology for Howard A. Kelly. Although Brödel did not have any formal medical training, he quickly acquired knowledge of anatomy, pathology, physiology, and surgery. Brödel's extraordinary illustrations were characterized by an aerial perspective that conveyed the surgeon's operative viewpoint and precise surgical anatomy. He masterfully incorporated tissue realism with cross-sectional anatomy to accentuate concepts while maintaining topographical accuracy. Brödel's reputation spread quickly and resulted in collaborations with prominent surgeons, such as Cushing, Halsted, and Dandy. Cushing, who also possessed artistic talent, became a pupil of Brödel and remained a very close friend. In 1911, Brödel was appointed the director of the Department of Art as Applied to Medicine at Johns Hopkins, the first academic department of its kind in the world. For the next several decades, he trained generations of renowned medical illustrators. Just as Osler, Halsted, and Cushing passed their skills and knowledge to future leaders of medicine and surgery, Brödel did the same for the field of medical illustration. The advancement of neurosurgical education has been greatly facilitated by Max Brödel's artistic contributions. His unique ability to synthesize art and medicine resulted in timeless illustrations that remain indispensable to surgeons. The art produced by his legacy of illustrators continues to flourish in neurosurgical literature today.
Schulze, Jenny Jakobsson; Lundmark, Jonas; Garle, Mats; Skilving, Ilona; Ekström, Lena; Rane, Anders
2008-07-01
Testosterone abuse is conventionally assessed by the urinary testosterone/epitestosterone (T/E) ratio, levels above 4.0 being considered suspicious. The large variation in testosterone glucuronide (TG) excretion and its strong association with a deletion polymorphism in the uridine diphospho-glucuronosyl transferase (UGT) 2B17 gene challenge the accuracy of the T/E ratio test. Our objective was to investigate whether genotype-based cutoff values will improve the sensitivity and specificity of the test. This was an open three-armed comparative study. A total of 55 healthy male volunteers with either two, one, or no allele [insertion/insertion, insertion/deletion, or deletion/deletion (del/del)] of the UGT2B17 gene was included in the study. A single im dose of 500 mg testosterone enanthate was administered. Urinary excretion of TG after dose and the T/E ratio during 15 d were calculated. The degree and rate of increase in the TG excretion rate were highly dependent on the UGT2B17 genotype with a 20-fold higher average maximum increase in the insertion/insertion group compared with the del/del group. Of the del/del subjects, 40% never reached the T/E ratio of 4.0 on any of the 15 d after the dose. When differentiated cutoff levels for the del/del (1.0) and the other genotypes (6.0) were applied, the sensitivity increased substantially for the del/del group, and false positives in the other genotypes were eliminated. Consideration of the genetic variation in disposition of androgens will improve the sensitivity and specificity of the testosterone doping test. This is of interest not only for combating androgen doping in sports, but also for detecting and preventing androgen abuse in society.
Montgomery, M D; Bylund, D B
2010-02-01
The alpha(2C)-adrenoceptor has multiple functions, including inhibiting release of noradrenaline from presynaptic nerve terminals. A human alpha(2C) polymorphism, Del322-325, a potential risk factor for heart failure, has been reported to exhibit reduced signalling in CHO cells. To further understand the role of the Del322-325 polymorphism on receptor signalling, we attempted to replicate and further study the reduced signalling in HEK293 cells. Human alpha(2C) wild-type (WT) and Del322-325 adrenoceptors were stably transfected into HEK293 cells. Radioligand binding was performed to determine affinities for both receptors. In intact cells, inhibition of forskolin-stimulated cyclic AMP production by WT and Del322-325 clones with a range of receptor densities (200-2320 fmol.mg(-1) protein) was measured following agonist treatment. Noradrenaline, brimonidine and clonidine exhibited similar binding affinities for WT and Del322-325. Brimonidine and clonidine also had similar efficacies and potencies for both receptors for the inhibition of cyclic AMP production at all receptor densities tested. A linear regression analysis comparing efficacy and potency with receptor expression levels showed no differences in slopes between WT and Del322-325. The alpha(2C) WT and Del322-325 adrenoceptors exhibited similar binding properties. Additionally, inhibition of cyclic AMP production by Del322-325 was similar to that of WT over a range of receptor densities. Therefore, in intact HEK293 cells, the alpha(2C)-Del322-325 polymorphism does not exhibit reduced signalling to adenylyl cyclase and may not represent a clinically important phenotype.
Mirror Coronograph for Argentina (MICA). Primera Luz
NASA Astrophysics Data System (ADS)
Stenborg, G.; Epple, A.; Schwenn, R.; Francile, C.; Rovira, M.
En Julio de 1997 se terminó con la primera parte de la instalación del ``Coronógrafo de Espejo para la Argentina'' en la estación de altura Carlos U. Cesco (El Leoncito), gracias al esfuerzo de la gente del Max Planck Institut für Aeronomie (Alemania), del OAFA y del IAFE. Dicho coronógrafo forma parte de un programa de ciencia bilateral entre Alemania y Argentina. El propósito del mismo, en conjunción con otros telescopios solares y terrestres, es contribuir a un mejor entendimiento de cuestiones fundamentales de la física solar. Para ello, ya está observando la corona de emisión en el verde (Fe XIV), rojo (Fe X) y Hα entre 1.05 y 2 radios solares aproximadamente. El diseño del instrumento, el cual fuera ya presentado en esta misma reunión en La Plata en 1996, es esencialmente similar al del telescopio LASCO-C1 a bordo del Solar Heliospheric Observatory (SOHO). La adquisición de datos se realiza con un CCD de 1280x1024 pixels, codificando en 12 bits, pudiendo ser el mismo operado en forma remota. En esta reunión presentaremos algunas de las observaciones realizadas durante la puesta a punto del instrumento en el período julio-setiembre de 1997. Asimismo expondremos cómo y por qué sus resultados complementarán a los de su par en el espacio.
Monsiváis, María Guadalupe Moreno; Guzmán, Ma. Guadalupe Interial; Flores, Paz Francisco Sauceda; Arreola, Leticia Vázquez
2012-01-01
Resumen En el presente trabajo se muestra la importancia de entrenar al personal de enfermería para mejorar la documentación en el expediente electrónico. Se eligió el manejo del dolor por ser un área prioritaria; una alta proporción de pacientes en período post operatorio cursa con dolor, por lo tanto, la documentación debe ser útil para la toma de decisiones clínicas. Se implementó un programa de entrenamiento denominado “Manejo del Dolor” dirigido al personal de enfermería. Se utilizó la tecnología de la información como herramienta para fortalecer el conocimiento con base en la revisión sistemática de la literatura; el personal de enfermería participante seleccionó la mejor evidencia; posteriormente se trabajó en la transferencia de este conocimiento a la práctica a través del diseño de un protocolo para el manejo del dolor. Se concluye que el conocimiento del manejo del dolor es fundamental para que enfermería documente con mayor precisión sus intervenciones. PMID:24199106
Fernández Castillo, Rafael; Cañadas de la Fuente, Gustavo R; Cañadas de la Fuente, Guillermo A; De la Fuente Solana, Emilia Inmaculada; Esteban de la Rosa, Rafael José; Bravo Soto, Juan
2016-07-19
Introducción: la obesidad y el sobrepeso presentan efectos adversos sobre la salud, lo que contribuye a la aparición de enfermedades metabólicas y cardiovasculares que ponen en peligro la integridad del injerto.Objetivo: investigar la influencia del IMC pretrasplante renal sobre el funcionamiento del injerto renal al año de trasplante mediante el estudio de cuatro métodos distintos de medir la filtración glomerular.Material y métodos: en este trabajo se ha seguido a 1.336 pacientes de ambos sexos trasplantados renales; se les realizaron mediciones pretrasplante y postrasplante de parámetros bioquímicos, mediciones antropométricas y función renal mediante medidas de filtrado glomerular.Resultados: a mayor índice de masa corporal pretrasplante se produce una disminución del filtrado glomerular medido por cuatro métodos distintos, así como mayor porcentaje de rechazos.Conclusiones: un IMC elevado pretrasplante contribuye a la disfunción del injerto, a una disminución del filtrado glomerular y a complicaciones del injerto en el primer año postrasplante.
Espectroscopia del Cometa Halley
NASA Astrophysics Data System (ADS)
Naranjo, O.; Fuenmayor, F.; Ferrin, L.; Bulka, P.; Mendoza, C.
1987-05-01
Se reportan observaciones espectroscópicas del cometa Halley. Los espectros fueron tomados usando el espectrógrafo del telescopio reflector de 1 metro del Observatorio Nacional de Venezuela. Se utilizó óptica azul, con una red de difracción de 600 lineas/min, obteniéndose una dispersión de 74.2 A/mm y una resolución de 2.5 A, en el rango espectral de 3500 a 6500 A. Seis placas fueron tomadas con emulsión IIa-O y dos con IIa-D. Los tiempos de exposición fueron entre 10 y 150 minutos. El cometa se encontraba entre 0.70 y 1.04 UA del Sol, y entre 1.28 y 0.73 UA de la Tierra. Las emisiones más prominentes en el espectro, son las del CN, C2, y C3. Otras emisiones detectadas corresponden a CH, NH2 y Na. Los espectros muestran un fuerte continuo, indicando un contenido significativo de polvo. Se detectó mayor intensidad del contínuo, en la dirección anti solar, lo cual es evidencia de la cola de polvo.
Sosa-Rubí, Sandra G; Salinas-Rodríguez, Aarón; Galárraga, Omar
2016-01-01
Objetivo Estimar el efecto del Seguro Popular (SP) sobre la incidencia del gasto catastrófico en salud (GCS) y sobre el gasto de bolsillo en salud (GBS) en el mediano plazo. Material y métodos Con base en la Encuesta de Evaluación del Seguro Popular (2005–2008), se analizaron los resultados del efecto del SP en la cohorte rural para dos años de seguimiento (2006 y 2008) y en la cohorte urbana para un año (2008). Resultados A nivel conglomerado no se detectaron efectos del SP. A nivel hogar se encontró que el SP tiene un efecto protector en el GCS y en el GBS en consulta externa y hospitalización en zonas rurales; y efectos significativos en la reducción de GBS en consulta externa en zonas urbanas. Conclusiones El SP se muestra como un programa efectivo para proteger a los hogares contra gastos de bolsillo por motivos de salud en el mediano plazo. PMID:22282205
[Trattamento del disturbo da uso di alcol da un punto di vista psicologico].
Coriale, Giovanna; Fiorentino, Daniela; De Rosa, Francesca; Solombrino, Simona; Scalese, Bruna; Ciccarelli, Rosaria; Attilia, Fabio; Vitali, Mario; Musetti, Alessia; Fiore, Marco; Ceccanti, Mauro
2018-01-01
RIASSUNTO. L'elaborazione del piano di trattamento rappresenta un momento molto delicato e complesso del processo terapeutico del disturbo da abuso di alcol (DUA). È la fase in cui le informazioni raccolte da un'équipe di professionisti (medici, psicologi e assistenti sociali) (modello bio-psico-sociale del DUA) vengono messe insieme per decidere il percorso terapeutico più adatto. Per quanto riguarda la parte psicologica, è di notevole importanza scegliere un trattamento clinico in grado di ridurre al minimo la mancata adesione al trattamento e, per i soggetti che rimangono in trattamento, di garantirne l'efficacia. Se da una parte, le tecniche psicoanalitiche e comportamentali hanno fornito le basi della terapia psicologica dell'alcolismo, dall'altra, gli approcci basati sull'evidenza scientifica sono stati elaborati a partire dai principi del colloquio motivazionale e della terapia cognitivo-comportamentale. In questo articolo viene fornita una panoramica dei trattamenti che sono risultati più efficaci nel trattare il DUA e delle modalità temporali più adeguate per monitorare l'efficacia del trattamento.
CHEK2 1100delC and male breast cancer in the Netherlands.
Wasielewski, Marijke; den Bakker, Michael A; van den Ouweland, Ans; Meijer-van Gelder, Marion E; Portengen, Henk; Klijn, Jan G M; Meijers-Heijboer, Hanne; Foekens, John A; Schutte, Mieke
2009-07-01
Mutations in the breast cancer susceptibility genes BRCA1, BRCA2, and CHEK2 are known risk factors for female breast cancer. Mutations in BRCA1 and BRCA2 also are associated with male breast cancer (MBC). Similarly, it had been suggested in the original CHEK2 identification report that the CHEK2 1100delC mutation confers an increased risk for MBC. Here, we have evaluated the risk of CHEK2 1100delC for MBC by genotyping CHEK2 1100delC in 23 familial and 71 unselected Dutch MBC cases. None of the 23 familial MBC cases carried the CHEK2 1100delC mutation. In contrast, CHEK2 1100delC was present in 3 of the 71 (4.2%) unselected MBC cases, which was significantly more prevalent than the 1.1% Dutch population frequency assessed in 1,692 individuals (P = 0.05, OR = 4.1, 95% CI 1.2-14.3). Our data suggest that, in the Netherlands, CHEK2 1100delC is associated with an increased risk for MBC.
Murgiano, Leonardo; Jagannathan, Vidhya; Piffer, Christian; Diez-Prieto, Inmaculada; Bolcato, Marilena; Gentile, Arcangelo; Drögemüller, Cord
2016-12-05
Renal syndromes are occasionally reported in domestic animals. Two identical twin Tyrolean Grey calves exhibited weight loss, skeletal abnormalities and delayed development associated with kidney abnormalities and formation of uroliths. These signs resembled inherited renal tubular dysplasia found in Japanese Black cattle which is associated with mutations in the claudin 16 gene. Despite demonstrating striking phenotypic similarities, no obvious presence of pathogenic variants of this candidate gene were found. Therefore further analysis was required to decipher the genetic etiology of the condition. The family history of the cases suggested the possibility of an autosomal recessive inheritance. Homozygosity mapping combined with sequencing of the whole genome of one case detected two associated non-synonymous private coding variants: A homozygous missense variant in the uncharacterized KIAA2026 gene (g.39038055C > G; c.926C > G), located in a 15 Mb sized region of homozygosity on BTA 8; and a homozygous 1 bp deletion in the molybdenum cofactor sulfurase (MOCOS) gene (g.21222030delC; c.1881delG and c.1782delG), located in an 11 Mb region of homozygosity on BTA 24. Pathogenic variants in MOCOS have previously been associated with inherited metabolic syndromes and xanthinuria in different species including Japanese Black cattle. Genotyping of two additional clinically suspicious cases confirmed the association with the MOCOS variant, as both animals had a homozygous mutant genotype and did not show the variant KIAA2026 allele. The identified genomic deletion is predicted to be highly disruptive, creating a frameshift and premature termination of translation, resulting in severely truncated MOCOS proteins that lack two functionally essential domains. The variant MOCOS allele was absent from cattle of other breeds and approximately 4% carriers were detected among more than 1200 genotyped Tyrolean Grey cattle. Biochemical urolith analysis of one case revealed the presence of approximately 95% xanthine. The identified MOCOS loss of function variant is highly likely to cause the renal syndrome in the affected animals. The results suggest that the phenotypic features of the renal syndrome were related to an early onset form of xanthinuria, which is highly likely to lead to the progressive defects. The identification of the candidate causative mutation thus enables selection against this pathogenic variant in Tyrolean Grey cattle.
Lai, Frank Pui-Ling; Lau, Sin-Ting; Wong, John Kwong-Leong; Gui, Hongsheng; Wang, Reeson Xu; Zhou, Tingwen; Lai, Wing Hon; Tse, Hung-Fat; Tam, Paul Kwong-Hang; Garcia-Barcelo, Maria-Mercedes; Ngan, Elly Sau-Wai
2017-07-01
Hirschsprung disease is caused by failure of enteric neural crest cells (ENCCs) to fully colonize the bowel, leading to bowel obstruction and megacolon. Heterozygous mutations in the coding region of the RET gene cause a severe form of Hirschsprung disease (total colonic aganglionosis). However, 80% of HSCR patients have short-segment Hirschsprung disease (S-HSCR), which has not been associated with genetic factors. We sought to identify mutations associated with S-HSCR, and used the clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 gene editing system to determine how mutations affect ENCC function. We created induced pluripotent stem cell (iPSC) lines from 1 patient with total colonic aganglionosis (with the G731del mutation in RET) and from 2 patients with S-HSCR (without a RET mutation), as well as RET +/- and RET -/- iPSCs. IMR90-iPSC cells were used as the control cell line. Migration and differentiation capacities of iPSC-derived ENCCs were analyzed in differentiation and migration assays. We searched for mutation(s) associated with S-HSCR by combining genetic and transcriptome data from patient blood- and iPSC-derived ENCCs, respectively. Mutations in the iPSCs were corrected using the CRISPR/Cas9 system. ENCCs derived from all iPSC lines, but not control iPSCs, had defects in migration and neuronal lineage differentiation. RET mutations were associated with differentiation and migration defects of ENCCs in vitro. Genetic and transcriptome analyses associated a mutation in the vinculin gene (VCL M209L) with S-HSCR. CRISPR/Cas9 correction of the RET G731del and VCL M209L mutations in iPSCs restored the differentiation and migration capacities of ENCCs. We identified mutations in VCL associated with S-HSCR. Correction of this mutation in iPSC using CRISPR/Cas9 editing, as well as the RET G731del mutation that causes Hirschsprung disease with total colonic aganglionosis, restored ENCC function. Our study demonstrates how human iPSCs can be used to identify disease-associated mutations and determine how they affect cell functions and contribute to pathogenesis. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.
International Celestial Reference Frame (ICRF): mantenimiento y extensión
NASA Astrophysics Data System (ADS)
Ma, C.; Arias, E. F.; Eubanks, T.; Fey, A. L.; Gontier, A.-M.; Jacobs, C. S.; Sovers, O. J.; Archinal, B. A.; Charlot, P.
A partir de enero de 1998 el sistema de referencia celeste convencional está representado por el International Celestial Reference System (ICRS) y materializado a través de las coordenadas VLBI del conjunto de radiofuentes extragalácticas que conforman el International Celestial Reference Frame (ICRF). La primera realización del ICRF, fue elaborada en 1995 por un grupo de expertos designado por la IAU, la que encomendó al International Earth Rotation Service el mantenimiento del ICRS, del ICRF y del vínculo con marcos de referencia en otras frecuencias. Una primera extensión del ICRF se realizó entre abril y junio de 1999, con el objetivo primario de proveer posiciones de radiofuentes extragalácticas observadas a partir de julio de 1995 y de mejorar las posiciones de las fuentes ``candidatas" con la inclusión de observaciones adicionales. Objetivos secundarios fueron monitorear a las radiofuentes para verificar que siguen siendo adecuadas para realizar al ICRF y mejorar las técnicas de análisis de datos. Como resultado del nuevo análisis se obtuvo una solución a partir de la cual se construyó la primera extensión del ICRF, denominada ICRF - Ext.1. Ella representa al ICRS, sus fuentes de definición se mantienen con las mismas posiciones y errores que en la primera realización del ICRF; las demás radiofuentes tienen coordenadas mejor determinadas que en ICRF; el marco de referencia se densificó con el agregado de 59 nuevas radiofuentes.
Estimaciones de Prevalencia del VIH por Género y Grupo de Riesgo en Tijuana, México: 2006
Iñiguez-Stevens, Esmeralda; Brouwer, Kimberly C.; Hogg, Robert S.; Patterson, Thomas L.; Lozada, Remedios; Magis-Rodriguez, Carlos; Elder, John P.; Viani, Rolando M.; Strathdee, Steffanie A.
2010-01-01
OBJETIVO Estimar la prevalencia del VIH en adultos de 15-49 años de edad en Tijuana, México - en la población general y en subgrupos de riesgo en el 2006. METODOS Se obtuvieron datos demográficos del censo Mexicano del 2005, y la prevalencia del VIH se obtuvo de la literatura. Se construyó un modelo de prevalencia del VIH para la población general y de acuerdo al género. El análisis de sensibilidad consistió en estimar errores estándar del promedio-ponderado de la prevalencia del VIH y tomar derivados parciales con respecto a cada parámetro. RESULTADOS La prevalencia del VIH es 0.54%(N = 4,347) (Rango: 0.22%–0.86%, (N = 1,750–6,944)). Esto sugiere que 0.85%(Rango: 0.39%–1.31%) de los hombres y 0.22%(Rango: 0.04%–0.40%) de las mujeres podrían ser VIH-positivos. Los hombres que tienen sexo con hombres (HSH), las trabajadoras sexuales usuarias de drogas inyectables (MTS-UDI), MTS-noUDI, mujeres UDI, y los hombres UDI contribuyeron las proporciones más elevadas de personas infectadas por el VIH. CONCLUSIONES El número de adultos VIH-positivos entre subgrupos de riesgo en la población de Tijuana es considerable, marcando la necesidad de enforcar las intervenciones de prevención en sus necesidades específicas. El presente modelo estima que hasta 1 en cada 116 adultos podrían ser VIH-positivos. PMID:19685824
Forensic applicability of multi-allelic InDels with mononucleotide homopolymer structures.
Zhang, Shu; Zhu, Qiang; Chen, Xiaogang; Zhao, Yuancun; Zhao, Xiaohong; Yang, Yiwen; Gao, Zehua; Fang, Ting; Wang, Yufang; Zhang, Ji
2018-04-27
Insertion/deletion polymorphisms (InDels), which possess the characteristics of low mutation rates and a short amplicon size, have been regarded as promising markers for forensic DNA analysis. InDels can be classified as bi-allelic or multi-allelic, depending on the number of alleles. Many studies have explored the use of bi-allelic InDels in forensic applications, such as individual identification and ancestry inference. However, multi-allelic InDels have received relatively little attention. In this study, InDels with 2-6 alleles and a minor allele frequency ≥0.01, in Chinese Southern Han (CHS), were retrieved from the 1000 Genomes Project Phase III. Based on the structural analysis of all retrieved InDels, 17 multi-allelic markers with mononucleotide homopolymer structures were selected and combined in one multiplex PCR reaction system. Sensitivity, species specificity and applicability in forensic case work of the multiplex were analyzed. A total of 218 unrelated individuals from a Chinese Han population were genotyped. The combined discriminatory power (CDP), the combined match probability (CMP) and the cumulative probability of exclusion (CPE) were 0.9999999999609, 3.91E-13 and 0.9956, respectively. The results demonstrated that this InDel multiplex panel was highly informative in the investigated population and most of the 26 populations of the 1000 Genomes Project. The data also suggested that multi-allelic InDel markers with monomeric base pair expansions are useful for forensic applications. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.
NASA Technical Reports Server (NTRS)
Sandor, Brad J.; Clancy, R. Todd; Rusch, David W.; Randall, Cora E.; Eckman, Richard S.; Siskind, David S.; Muhleman, Duane O.
1997-01-01
The first microwave measurements of an electronically excited molecular species in the Earth's atmosphere are presented. Local thermodynamic equilibrium (LTE) rotational line emission from mesospheric O2(1-del(sub g)) was observed at a frequency of 255.01794 GHz (lambda is approx. 1.2 mm), employing the National Radio Astronomy Observatory (NRAO) millimeter facility at Kitt Peak, Arizona (32 N, 111 W). The pressure broadened line shapes of the O2(1-del(sub g)) spectra, which were obtained in January and April 1992 and in January and November 1993, are inverted to retrieve O2(1-del(sub g)) mixing profiles over the 50-70 km altitude region. The observed daytime abundances exceed ozone abundances in the lower mesosphere, which are separately retrieved with coincident O3 spectral line (249.7886 GHz) observations. The January and November 1993 observations are binned into 20-60 min time intervals to study O2(1-del(sub g)) diurnal behavior. Derived abundances of O2(1-del(sub g)) between 50 and 70 km for the four observation dates are 9%, 31%, 3%, and 26%, respectively, each +/- 10% higher than predicted, based on the simple photochemistry of lower mesospheric O2(1-del(sub g)). Modeled variation of [O2(1-del(sub g))] with time of day agrees with observed variation in that the observed difference between model and data abundances is constant throughout the daylight hours of each observation date. Model underprediction Of [02(lAg)] is consistent with similar model underprediction of mesospheric [O3]. A perturbation to the photochemical model that forces decreased ozone chemical loss brings brings both model [O3] and [O2(1-del(sub g))] into agreement with the observations. O2(1-del(sub g)) abundances derived from these 1.2 mm observations agree with [O2(1-del(sub g))] values derived from comparable SME observations of the 1.27 micrometers emission, with assumption of a 3880 sec O2(1-del(sub g)) radiative lifetime. The 6800 sec O2(1-del(sub g)) radiative lifetime proposed by Mlynczak and Nesbitt is ruled out by the similar comparison.
Aquifer overexploitation: what does it mean?
NASA Astrophysics Data System (ADS)
Custodio, Emilio
2002-02-01
Groundwater overexploitation and aquifer overexploitation are terms that are becoming common in water-resources management. Hydrologists, managers and journalists use them when talking about stressed aquifers or some groundwater conflict. Overexploitation may be defined as the situation in which, for some years, average aquifer ion rate is greater than, or close to the average recharge rate. But rate and extent of recharge areas are often very uncertain. Besides, they may be modified by human activities and aquifer development. In practice, however, an aquifer is often considered as overexploited when some persistent negative results of aquifer development are felt or perceived, such as a continuous water-level drawdown, progressive water-quality deterioration, increase of ion cost, or ecological damage. But negative results do not necessarily imply that ion is greater than recharge. They may be simply due to well interferences and the long transient period that follow changes in the aquifer water balance. Groundwater storage is depleted to some extent during the transient period after ion is increased. Its duration depends on aquifer size, specific storage and permeability. Which level of "aquifer overexploitation" is advisable or bearable, depends on the detailed and updated consideration of aquifer-development effects and the measures implemented for correction. This should not be the result of applying general rules based on some indirect data. Monitoring, sound aquifer knowledge, and calculation or modelling of behaviour are needed in the framework of a set of objectives and policies. They should be established by a management institution, with the involvement of groundwater stakeholders, and take into account the environmental and social constraints. Aquifer overexploitation, which often is perceived to be associated with something ethically bad, is not necessarily detrimental if it is not permanent. It may be a step towards sustainable development. Actually, the term aquifer overexploitation is mostly a qualifier that intends to point to a concern about the evolution of the aquifer-flow system in some specific, restricted points of view, but without a precise hydrodynamic meaning. Implementing groundwater management and protection measures needs quantitative appraisal of aquifer evolution and effects based on detailed multidisciplinary studies, which have to be supported by reliable data. Resumé. La surexploitation de l'eau souterraine et la surexploitation des nappes sont des termes qui deviennent d'usage commun en gestion de l'eau. Plusieurs hydrologues, aménageurs et journalistes en font usage quand on parle d'une nappe exploitée intensivement et qui présente des situations conflictives. On peut définir la surexploitation comme étant la situation dans laquelle l'extraction moyenne d'eau souterraine est plus grande ou proche de la recharge moyenne pendant quelques années. Mais le taux ansi que la surface de cette recharge sont souvent tres incertains et peuvent changer dûs a des activitées humaines et à l'exploitation de la nappe elle-méme. Du point de vue pratique on souvent considère qu'il y a surexploitation quand on observe or on s'aperçoit de certains résultats négatifs de l'exploitation, tels qu'une diminution continue du niveau de l'eau, une detérioration de sa qualité, une augmentation du coût d' extraction, ou dommages écologiques. Mais ces effets négatifs n' impliquent pas nécessairement que l'extraction soit plus grande que la recharge. Ils peuvent étre simplement le résultat d'interférences ou d'une longue période transitoire qui suivent les changements dans les termes du bilan hydrique. Cette période transitoire a une durée que dépend de la taille de la nappe, et de son coefficient d' emmagasinement et de sa perméabilité. Les extractions d'eau de la nappe comportent une diminution de l'emmagasinement d'eau souterraine pendant le période transitoire. A fin de pouvoir décider du degré de "surexploitation de la nappe" conseillé ou admisible on a besoin de la description detaillée et à jour des effets de l'exploitation et des mesures de correction adoptées. Cette décision ne peut pas étre prise uniquement à partir de regles générales et l'appui de quelques observations indirectes. On a besoin de controle, d'une bonne connaissance de la nappe, et de calculer ou modeliser le comportement, en faisant appel à l'ensemble des objectifs et politiques établies par une institution de gestion, avec l'implication des personnes qui sont intéressées par l'eau souterraine, et tenant compte des conditions environmentales et sociales. La surexploitation de nappes, qui souvent est associée a quelque chose éthiquement nocive, n'est pas necessairement ainsi pendant un certain temps, et peut être une étape dans l'évolution vers un développement durable. Réellement la designation de surexploitation de nappes est surtout un adjectif que a pour but de qualifier une évolution préoccupante sous certains points de vue, mais sans une signification hydrodynamique précise. Pour adopter des mesures de gestion et protection, on a besoin de l'évaluation quantitative de l'évolution de la nappe et de ses effets, ce qui doit déboucher sur des études detaillées dans un contexte multidisciplinaire, et sur de bonnes données. Resumen. La sobreexpolotación del agua subterránea y la sobreexplotacion de acuíferos son conceptos que se están convirtiendo en términos de uso común en gestión hídrica. Muchos hidrólogos, gestores y periodistas las usan para referirse a un acuífero explotado intensamente o que presenta situaciones conflictivas. La sobreexplotación se puede definir como la situación en la que durante varios años la extracción media de agua subterránea de un acuífero supera o se aproxima a la recarga media. Pero la tasa y también la superficie sobre la que se realiza esta recarga son a menudo muy inciertas, y pueden cambiar por actividades humanas y por la propia explotación del acuífero. Sin embargo, en la práctica se suele considerar que hay sobreexplotación cuando se observan o se perciben ciertos resultados negativos de la explotación, tales como un descenso continuado del nivel del agua, un deterioro de su calidad, un encarecimiento del agua extraída, o daños ecológicos. Pero estos efectos no están necesariamente relacionados con el hecho de que la extracción sea mayor que la recarga, puesto que pueden ser simplemente el resultado de interferencias o del dilatado período transitorio que sigue a los cambios en los términos del balance de agua, y cuya duración depende del tamaño del acuífero, y de su permeabilidad y coeficiente de almacenamiento. Las extracciones del acuífero suponen una disminución del almacenamiento de agua subterránea durante este periodo transitorio. Para decidir que grado de "sobreexplotación del acuífero" es aconsejable o admisible hace falta la consideración detallada y actualizada de los efectos de la explotación y las medidas de corrección que se adopten. Para esa decisión no basta con reglas generales y el apoyo de algunas observaciones indirectas. Se necesitan observaciones de control, buen conocimiento del acuífero y cálculos o modelación del comportamiento, y todo ello en el marco de un conjunto de objetivos y políticas establecidas por una institución de gestión, con la implicación de aquellos que tienen un interés en el agua subterránea, y teniendo en cuenta los condicionantes ambientales y sociales. La sobreexplotación de acuíferos, que con frecuencia suele asociarse a algo éticamente malo, no tiene por qué ser necesariamente así durante cierto tiempo, sino una etapa en la evolución hacia un desarrollo sustentable. En la realidad la designación de sobreexplotación de acuíferos es principalmente un adjetivo que trata de calificar a una evolución preocupante bajo determinados puntos de vista, sin que tenga una significación hidrodinámica precisa. Para adoptar medidas de gestión y de protección se necesita la evaluación cuantitativa de la evolución del acuífero y sus efectos, que se derivan de estudios de detalle en un contexto multidisciplinar y de datos fiables.
ERIC Educational Resources Information Center
Ministerio de Educacion Nacional, Bogota (Colombia). Centro Nacional de Documentacion e Informacion Pedagogica.
In fulfillment of the Colombian National Government's educational policy aimed toward improving the rural population's level of living, two fundamental projects have been implemented. These projects have led to the creation of schools, the continuous extension of grades, and the creation of "Concentraciones de Desarrollo Rural." They…
1989-08-01
Venezuela. Fundacion La Salle de 6200. 54 pp. Ciencias Naturales . Caracas, Venezuela. 951 pp. Deue], D.G., and j.R. Clark. 1968. The Coln, P.L. 1982...Baltimore, Md. 05 pp. Colombia. Instituto de Desarrollo de los Recursos Naturales , Bogota, Colombia. 391 pp. Goodyear, C.P. 1988. The Gulf of Mexico fishery
ERIC Educational Resources Information Center
Mora, Alberto; Trejo, Paulina; Roux, Ruth
2014-01-01
This article analyzes the professional development of two English language teachers in a Mexican language center. In particular, it explores the interplay between professional development, identity and agency, and the part played by English language teaching certificates in all of these. Drawing on a case study methodology, which included the use…
ERIC Educational Resources Information Center
Moore, Shirley G.
Among studies that have examined the relationship between parenting styles and children's development of social skills, the research of Diana Baumrind is noteworthy. In several studies, she has identified authoritarian, permissive, and authoritative parenting styles, which differ on the dimensions of nurturance and parental control. Authoritarian…
La Violencia y el Desarrollo de los Ninos (Violence and Young Children's Development). ERIC Digest.
ERIC Educational Resources Information Center
Wallach, Lorraine B.
This digest examines the developmental consequences for children who are the victims of or witnesses to family and community violence. A baby's ability to trust depends upon the family's ability to provide consistent caregiving, which is compromised when the infant's family lives in a community wracked by violence. When they reach toddlerhood,…
ERIC Educational Resources Information Center
McClellan, Diane E.; Katz, Lilian G.
The best childhood predictor of later adult adaptation is the adequacy with which a child gets along with other children. Because social development begins in the early years, it is appropriate that early childhood programs include regular formal and informal assessment of children's acquisition of social competence. This digest presents the…
Uso de terreno urbano y rural en Puerto Rico
Sebastian Martinuzzi; William A. Gould; Olga M. Ramos Gonzalez; Maya Quinones; Michael E. Jimenez
2008-01-01
El Proyecto de Analisis de Gap de Puerto Rico (PRGAP) (Gould et al. 2008) desarrollo tres usos de terrenos para Puerto Rico: Urbano, Suburbano, y Rural (Martinuzzi et al. 2007). Estas regiones tambien pueden ser consideradas como urbano, densamente-poblado rural, y escasamente-poblado rural, o como urbano y area silvestre con una interfase de area silvestre-urbana. La...
ERIC Educational Resources Information Center
Neuman, Susan B.; Copple, Carol; Bredekamp, Sue
This Spanish language edition of "Learning To Read and Write: Developmentally Appropriate Practices for Young Children," presents effective research-based strategies for promoting children's literacy learning in preschool, kindergarten, and elementary classrooms and infant/toddler settings. Including classroom photos and children's work,…
Katz, Gregorio; Corona, Edgar
2016-01-01
This paper describes an innovative institution, Capacitación y Desarrollo Integral AC (CADI – Comprehensive Training and Development), created in Mexico to develop evidence-based interventions grounded in the principles of inclusion, independence, social and health equity that promote the well-being of persons with intellectual developmental disorder older than 14 years. PMID:29093910
Tierra del Fuego, Argentina, South America
NASA Technical Reports Server (NTRS)
1991-01-01
The Mitre Peninsula is the easternmost tip of Tierra del Fuego, Argentina, (54.5S, 65.5W). Early winter snow can be seen on this south tip of the Andes Mountains. These same mountains continue underwater to Antarctica. The Strait of Magellan, separating the South American mainland from Tierra del Fuego is off the scene to the north and west, but the Strait of LeMaire, separating Tierra del Fuego from the Isla de los Estados can be seen.
Información general sobre el Índice UV que proporciona un pronóstico del riesgo esperado de sobreexposición a la radiación ultravioleta (UV) del sol. El índice UV va acompañado de recomendaciones para protegerse del sol.
Le Henaff, Carole; Faria Da Cunha, Mélanie; Hatton, Aurélie; Tondelier, Danielle; Marty, Caroline; Collet, Corinne; Zarka, Mylène; Geoffroy, Valérie; Zatloukal, Kurt; Laplantine, Emmanuel; Edelman, Aleksander; Sermet-Gaudelus, Isabelle; Marie, Pierre J
2016-04-01
Patients with cystic fibrosis (CF) display low bone mass and alterations in bone formation. Mice carrying the F508del genetic mutation in the cystic fibrosis conductance regulator (Cftr) gene display reduced bone formation and decreased bone mass. However, the underlying molecular mechanisms leading to these skeletal defects are unknown, which precludes the development of an efficient anti-osteoporotic therapeutic strategy. Here we report a key role for the intermediate filament protein keratin 8 (Krt8), in the osteoblast dysfunctions in F508del-Cftr mice. We found that murine and human osteoblasts express Cftr and Krt8 at low levels. Genetic studies showed that Krt8 deletion (Krt8(-/-)) in F508del-Cftr mice increased the levels of circulating markers of bone formation, corrected the expression of osteoblast phenotypic genes, promoted trabecular bone formation and improved bone mass and microarchitecture. Mechanistically, Krt8 deletion in F508del-Cftr mice corrected overactive NF-κB signaling and decreased Wnt-β-catenin signaling induced by the F508del-Cftr mutation in osteoblasts. In vitro, treatment with compound 407, which specifically disrupts the Krt8-F508del-Cftr interaction in epithelial cells, corrected the abnormal NF-κB and Wnt-β-catenin signaling and the altered phenotypic gene expression in F508del-Cftr osteoblasts. In vivo, short-term treatment with 407 corrected the altered Wnt-β-catenin signaling and bone formation in F508del-Cftr mice. Collectively, the results show that genetic or pharmacologic targeting of Krt8 leads to correction of osteoblast dysfunctions, altered bone formation and osteopenia in F508del-Cftr mice, providing a therapeutic strategy targeting the Krt8-F508del-CFTR interaction to correct the abnormal bone formation and bone loss in cystic fibrosis. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
Herrera, Alex F; Mei, Matthew; Low, Lawrence; Kim, Haesook T; Griffin, Gabriel K; Song, Joo Y; Merryman, Reid W; Bedell, Victoria; Pak, Christine; Sun, Heather; Paris, Tanya; Stiller, Tracey; Brown, Jennifer R; Budde, Lihua E; Chan, Wing C; Chen, Robert; Davids, Matthew S; Freedman, Arnold S; Fisher, David C; Jacobsen, Eric D; Jacobson, Caron A; LaCasce, Ann S; Murata-Collins, Joyce; Nademanee, Auayporn P; Palmer, Joycelynne M; Pihan, German A; Pillai, Raju; Popplewell, Leslie; Siddiqi, Tanya; Sohani, Aliyah R; Zain, Jasmine; Rosen, Steven T; Kwak, Larry W; Weinstock, David M; Forman, Stephen J; Weisenburger, Dennis D; Kim, Young; Rodig, Scott J; Krishnan, Amrita; Armand, Philippe
2017-01-01
Purpose Double-hit lymphomas (DHLs) and double-expressor lymphomas (DELs) are subtypes of diffuse large B-cell lymphoma (DLBCL) associated with poor outcomes after standard chemoimmunotherapy. Data are limited regarding outcomes of patients with relapsed or refractory (rel/ref) DEL or DHL who undergo autologous stem-cell transplantation (ASCT). We retrospectively studied the prognostic impact of DEL and DHL status on ASCT outcomes in patients with rel/ref DLBCL. Methods Patients with chemotherapy-sensitive rel/ref DLBCL who underwent ASCT at two institutions and in whom archival tumor material was available were enrolled. Immunohistochemistry for MYC, BCL2, and BCL6 and fluorescence in situ hybridization (FISH) for MYC were performed. In cases with MYC rearrangement or copy gain, FISH for BCL2 and BCL6 was also performed. Results A total of 117 patients were included; 44% had DEL and 10% had DHL. DEL and DHL were associated with inferior progression-free survival (PFS), and DHL was associated with poorer overall survival (OS). The 4-year PFS in patients with DEL compared with those with non-DEL was 48% versus 59% ( P = .049), and the 4-year OS was 56% versus 67% ( P = .10); 4-year PFS in patients with DHL compared with those with non-DHL was 28% versus 57% ( P = .013), and 4-year OS was 25% versus 61% ( P = .002). The few patients with concurrent DEL and DHL had a poor outcome (4-year PFS, 0%). In multivariable models, DEL and DHL were independently associated with inferior PFS, whereas DHL and partial response ( v complete response) at transplant were associated with inferior OS. Conclusion DEL and DHL are both associated with inferior outcomes after ASCT in patients with rel/ref DLBCL. Although ASCT remains a potentially curative approach, these patients, particularly those with DHL, are a high-risk subset who should be targeted for investigational strategies other than standard ASCT.
Herrera, Alex F.; Mei, Matthew; Low, Lawrence; Kim, Haesook T.; Griffin, Gabriel K.; Song, Joo Y.; Merryman, Reid W.; Bedell, Victoria; Pak, Christine; Sun, Heather; Paris, Tanya; Stiller, Tracey; Brown, Jennifer R.; Budde, Lihua E.; Chan, Wing C.; Chen, Robert; Davids, Matthew S.; Freedman, Arnold S.; Fisher, David C.; Jacobsen, Eric D.; Jacobson, Caron A.; LaCasce, Ann S.; Murata-Collins, Joyce; Nademanee, Auayporn P.; Palmer, Joycelynne M.; Pihan, German A.; Pillai, Raju; Popplewell, Leslie; Siddiqi, Tanya; Sohani, Aliyah R.; Zain, Jasmine; Rosen, Steven T.; Kwak, Larry W.; Weinstock, David M.; Forman, Stephen J.; Weisenburger, Dennis D.; Kim, Young; Rodig, Scott J.; Krishnan, Amrita
2017-01-01
Purpose Double-hit lymphomas (DHLs) and double-expressor lymphomas (DELs) are subtypes of diffuse large B-cell lymphoma (DLBCL) associated with poor outcomes after standard chemoimmunotherapy. Data are limited regarding outcomes of patients with relapsed or refractory (rel/ref) DEL or DHL who undergo autologous stem-cell transplantation (ASCT). We retrospectively studied the prognostic impact of DEL and DHL status on ASCT outcomes in patients with rel/ref DLBCL. Methods Patients with chemotherapy-sensitive rel/ref DLBCL who underwent ASCT at two institutions and in whom archival tumor material was available were enrolled. Immunohistochemistry for MYC, BCL2, and BCL6 and fluorescence in situ hybridization (FISH) for MYC were performed. In cases with MYC rearrangement or copy gain, FISH for BCL2 and BCL6 was also performed. Results A total of 117 patients were included; 44% had DEL and 10% had DHL. DEL and DHL were associated with inferior progression-free survival (PFS), and DHL was associated with poorer overall survival (OS). The 4-year PFS in patients with DEL compared with those with non-DEL was 48% versus 59% (P = .049), and the 4-year OS was 56% versus 67% (P = .10); 4-year PFS in patients with DHL compared with those with non-DHL was 28% versus 57% (P = .013), and 4-year OS was 25% versus 61% (P = .002). The few patients with concurrent DEL and DHL had a poor outcome (4-year PFS, 0%). In multivariable models, DEL and DHL were independently associated with inferior PFS, whereas DHL and partial response (v complete response) at transplant were associated with inferior OS. Conclusion DEL and DHL are both associated with inferior outcomes after ASCT in patients with rel/ref DLBCL. Although ASCT remains a potentially curative approach, these patients, particularly those with DHL, are a high-risk subset who should be targeted for investigational strategies other than standard ASCT. PMID:28034071
Peng, Yaqin; Liu, Baoming; Hou, Jinlin; Sun, Jian; Hao, Ran; Xiang, Kuanhui; Yan, Ling; Zhang, Jiangbo; Zhuang, Hui; Li, Tong
2015-01-01
Mutations in HBV core promoter (CP) are suggested to affect viral replication and disease progression. We investigated CP deletion/insertion mutations (Del/Ins) in hepatitis B e antigen (HBeAg)-positive chronic hepatitis B (CHB) patients before and during antiviral treatment. Direct and clone sequencings were used for detection of CP Del/Ins in 12 patients. The dynamic changes of CP Del/Ins were tracked in these cases until week 48 of treatment. The effects of Del/Ins on CP activities and hepatitis B X protein (HBx) were analysed using luciferase assay and sequence comparison, respectively. Furthermore, 292 untreated HBeAg-positive CHB cases were also analysed. Twelve cases with multi-peak PCR direct sequencing electropherograms at baseline were confirmed to have CP Del/Ins by clone sequencing, with detection rates varying from 14.8% to 93.3% of clones analysed. Follow-up studies showed the detection rates of CP Del/Ins in patients decreased from 100% (12/12) at baseline to 16.7% (2/12) at week 48 of treatment (P<0.001), in parallel with a decline in HBV DNA, hepatitis B surface antigen (HBsAg), alanine aminotransferase (ALT) and aspartate transaminase (AST) levels along with an increase in HBeAg loss. Luciferase assay results showed distinct promoter activities among Del/Ins-harbouring CP sequences. Importantly, 71.8% (148/206) of Del/Ins sequences potentially resulted in HBx carboxy-terminal truncations. CP Del/Ins mutations were also found in 27.4% (80/292) of untreated cases. Naturally occurring complex of CP Del/Ins mutants existed in untreated HBeAg-positive CHB patients. These mutations would affect HBV transcription activities and integrity of HBx, which might correlate with disease progression. Their prevalence decreases on antiviral therapy in parallel with the decline in HBV DNA, HBsAg and ALT and AST levels.
Gonzales, Gustavo F.; Zevallos, Alisson; Gonzales-Castañeda, Cynthia; Nuñez, Denisse; Gastañaga, Carmen; Cabezas, César; Naeher, Luke; Levy, Karen; Steenland, Kyle
2015-01-01
RESUMEN El presente artículo es una revisión sobre la contaminación del agua, el aire y el efecto del cambio climático en la salud de la población peruana. Uno de los principales contaminantes del aire es el material particulado menor de 2,5 μ (PM 2,5), en la ciudad de Lima, anualmente 2300 muertes prematuras son atribuibles a este contaminante. Otro problema es la contaminación del aire domiciliario por el uso de cocinas con combustible de biomasa, donde la exposición excesiva a PM 2,5 dentro de las casas es responsable de aproximadamente 3000 muertes prematuras anuales entre adultos, con otro número desconocido de muertes entre niños debido a infecciones respiratorias. La contaminación del agua tiene como principales causas los desagües vertidos directamente a los ríos, minerales (arsénico) de varias fuentes, y fallas de las plantas de tratamiento. En el Perú, el cambio climático puede impactar en la frecuencia y severidad del fenómeno de El Niño oscilación del sur (ENSO) que se ha asociado con un incremento en los casos de enfermedades como cólera, malaria y dengue. El cambio climático incrementa la temperatura y puede extender las áreas afectadas por enfermedades transmitidas por vectores, además de tener efecto en la disponibilidad del agua y en la contaminación del aire. En conclusión, el Perú, pasa por una transición de factores de riesgo ambientales, donde coexisten riesgos tradicionales y modernos, y persisten los problemas infecciosos y crónicos, algunos de los cuales se asocian con problemas de contaminación de agua y de aire. PMID:25418656
Younis, Rania H.; Cao, Wei; Lin, Ruxian; Xia, Ronghui; Liu, Zhenqiu; Edelman, Martin J.; Mei, Yuping; Mao, Li; Ren, Hening
2012-01-01
Objective Lung cancer remains number one cause of cancer related deaths worldwide. Cell cycle deregulation plays a major role in the pathogenesis of Non-Small Cell Lung Cancer (NSCLC). CDC25A represents a critical cell cycle regulator that enhances cell cycle progression. In this study we aimed to investigate the role of a novel CDC25A transcriptional variant, CDC25AQ110del, on the regulation of the CDC25A protein, and its impact on prognosis of NSCLC patients. Methodology/Principal Findings Here we report a novel CDC25A transcript variant with codon 110 (Glutamine) deletion, that we termed CDC25AQ110del in NSCLC cells. In 9 (75%) of the 12 NSCLC cell lines, CDC25AQ110del expression accounted for more than 20% of the CDC25A transcripts. Biological effects of CDC25AQ110del were investigated in H1299 and HEK-293F cells using UV radiation, flowcytometry, cyclohexamide treatment, and confocal microscopy. Compared to CDC25Awt, CDC25AQ110del protein had longer half-life; cells expressing CDC25AQ110del were more resistant to UV irradiation and showed more mitotic activity. Taqman-PCR was used to quantify CDC25AQ110del expression levels in 88 primary NSCLC tumor/normal tissue pairs. In patients with NSCLC, Kaplan Meier curves showed tumors expressing higher levels of CDC25AQ110del relative to the adjacent lung tissues to have significantly inferior overall survival (P = .0018). Significance Here we identified CDC25AQ110del as a novel transcriptional variant of CDC25A in NSCLC. The sequence-specific nature of the abnormality could be a prognostic indicator in NSCLC patients as well as a candidate target for future therapeutic strategies. PMID:23071577
DOE Office of Scientific and Technical Information (OSTI.GOV)
Fang, Xu-Qian; Liu, Xiang-Fan; Yao, Ling
Highlights: •A novel FAK splicing mutation identified in breast tumor. •FAK-Del33 mutation promotes cell migration and invasion. •FAK-Del33 mutation regulates FAK/Src signal pathway. -- Abstract: Focal adhesion kinase (FAK) regulates cell adhesion, migration, proliferation, and survival. We identified a novel splicing mutant, FAK-Del33 (exon 33 deletion, KF437463), in both breast and thyroid cancers through colony sequencing. Considering the low proportion of mutant transcripts in samples, this mutation was detected by TaqMan-MGB probes based qPCR. In total, three in 21 paired breast tissues were identified with the FAK-Del33 mutation, and no mutations were found in the corresponding normal tissues. When introducedmore » into a breast cell line through lentivirus infection, FAK-Del33 regulated cell motility and migration based on a wound healing assay. We demonstrated that the expression of Tyr397 (main auto-phosphorylation of FAK) was strongly increased in FAK-Del33 overexpressed breast tumor cells compared to wild-type following FAK/Src RTK signaling activation. These results suggest a novel and unique role of the FAK-Del33 mutation in FAK/Src signaling in breast cancer with significant implications for metastatic potential.« less
Factors associated with poor sleep quality in women with cancer.
Mansano-Schlosser, Thalyta Cristina; Ceolim, Maria Filomena
2017-03-02
to analyze the factors associated with poor sleep quality, its characteristics and components in women with breast cancer prior to surgery for removing the tumor and throughout the follow-up. longitudinal study in a teaching hospital, with a sample of 102 women. The following were used: a questionnaire for sociodemographic and clinical characterization, the Pittsburgh Sleep Quality Index; the Beck Depression Inventory; and the Herth Hope Scale. Data collection covered from prior to the surgery for removal of the tumor (T0) to T1, on average 3.2 months; T2, on average 6.1 months; and T3, on average 12.4 months. Descriptive statistics and the Generalized Estimating Equations model were used. depression and pain contributed to the increase in the score of the Pittsburgh Sleep Quality Index, and hope, to the reduction of the score - independently - throughout follow-up. Sleep disturbances were the component with the highest score throughout follow-up. the presence of depression and pain, prior to the surgery, contributed to the increase in the global score of the Pittsburgh Sleep Quality Index, which indicates worse quality of sleep throughout follow-up; greater hope, in its turn, influenced the reduction of the score of the Pittsburgh Sleep Quality Index. analizar los factores asociados a la mala calidad del sueño, sus características y componentes en mujeres con cáncer de mama, antes de la cirugía de retirada del tumor y a lo largo del seguimiento. estudio longitudinal, en hospital universitario con muestra de 102 mujeres. Fueron utilizados: un cuestionario de caracterización sociodemográfica y clínica; el Índice de Calidad del Sueño de Pittsburgh; el Inventario de Depresión de Beck; y la Escala de Esperanza de Herth. La recolección comprendió los momentos: antes de la cirugía de retirada del tumor (T0), en (T1) en promedio 3,2 meses, en (T2) en promedio 6,1 meses y en (T3) en promedio 12,4 meses. Se utilizó estadística descriptiva y el modelo de Ecuaciones de Estimación Generalizada. la depresión y el dolor contribuyeron para el aumento del puntaje del Índice de Calidad del Sueño de Pittsburgh y la esperanza para la reducción del puntaje, de manera independiente, a lo largo del seguimiento. Los trastornos del sueño fueron el componente con puntuación más elevada, a lo largo del seguimiento. la presencia de la depresión y del dolor, previos a la cirugía, contribuyeron para el aumento del puntaje global del Índice de Calidad del Sueño de Pittsburgh, lo que indica peor calidad del sueño, a lo largo del seguimiento y, la mayor esperanza, a su vez, influenció en la reducción del puntaje del Índice de Calidad del Sueño de Pittsburgh. analisar os fatores associados à má qualidade do sono, suas características e componentes em mulheres com câncer de mama antes da cirurgia de retirada do tumor e ao longo do seguimento. estudo longitudinal, em hospital universitário com amostra de 102 mulheres. Foram utilizados: questionário de caracterização sociodemográfica e clínica, Índice de Qualidade do Sono de Pittsburgh; Inventário de Depressão de Beck; Escala de Esperança de Herth. Coleta compreendeu antes da cirurgia de retirada do tumor (T0) em T1, em média 3,2 meses; T2, em média 6,1 meses; T3, em média 12,4 meses. Utilizou-se estatística descritiva e o modelo de Equações de Estimação Generalizada. a depressão e a dor contribuíram para o aumento do escore do Índice de Qualidade de Sono de Pittsburgh, e a esperança, para a redução do escore, de maneira independente, ao longo do seguimento. Os transtornos do sono foram o componente com pontuação mais elevada, ao longo do seguimento. a presença de depressão e de dor, previamente à cirurgia, contribuiu para o aumento do escore global do Índice de Qualidade do Sono de Pittsburgh, o que indica pior qualidade do sono, ao longo do seguimento e, a maior esperança, por sua vez, influenciou na redução do escore do Índice de Qualidade do Sono de Pittsburgh.
NASA Astrophysics Data System (ADS)
Marrero, Analía; Tudurí, Adriana; Pérez, Laura; Cuña, Caroline; Muniz, Pablo; Lopes Figueira, Rubens; Michaelovitch de Mahiques, Michel; Alves de Lima Ferreira, Paulo; Pittauerová, Daniela; Hanebuth, Till; García Rodríguez, Felipe
2014-12-01
El Río de la Plata (RdlP) presenta significativas variaciones naturales (hidrodinámicas y oceanográficas) asociadas a diferentes condiciones climáticas. El propósito de este trabajo es inferir los cambios de aportes continentales de sedimentos y su relación con las variaciones hidrológicas del Río de la Plata, a través del análisis de proxies sedimentológicos y geoquímicos en testigos de sedimentos de la plataforma interna uruguaya que registran los últimos 100 años, aproximadamente. A partir de la datación por 210Pb de dos testigos de sedimentos (GeoB 13813-4 y BAR1) se reconstruyó la geocronología del ambiente, y se relacionó con datos de las forzantes climáticas Pacific Decadal Oscillation, El Niño/La Niña Southern Oscillation, Atlantic Multidecadal Oscillation, y las anomalías hidrológicas de los ríos Paraná y Uruguay. Los valores más positivos y estables del Southern Oscillation Index, los cuales corresponden a fases La Niña, se observan en el periodo correspondiente entre 1910-1970, respecto al resto de la serie, donde se aprecia una mayor variabilidad y una tendencia hacia valores más negativos (eventos El Niño). Se hicieron dendrogramas (clustering) jerárquicos para ambos testigos. Para el testigo GeoB 13813-4, se utilizó la relación Ca/Ti y la granulometría, mientras que para BAR1 se recurrió a variables granulométricas y la tasa de sedimentación. El mayor aporte continental hacia la región de la plataforma adyacente al Río de la Plata registrado a partir del año 1970, podría ser el factor principal de los agrupamientos observados en los clusters para ambos testigos. Las agrupaciones mostraron una diferenciación en la década de 1970, lo que estaría asociado al aumento de los caudales de los ríos Paraná y Uruguay, durante las últimas tres décadas del siglo XX. Por otra parte se observa que la granulometría del testigo BAR1 presentó un mayor tamaño de grano y más variabilidad que en el caso del testigo GeoB 13813-4. También se determinó una mayor acumulación de sedimentos a través del tiempo en el cinturón de barro del Río de la Plata (plataforma continental adyacente), comparado con aquel registrado en la Barra del Indio (límite entre zona intermedia y externa del estuario). Estas diferencias podrían estar relacionadas con la influencia del Río de la Plata, el cual genera un ambiente altamente dinámico sobre la Barra del Indio y un ambiente más estable sobre el cinturón de barro en la plataforma continental.
2013-05-22
Estado Mayor del Ejército de EE. UU. en cumplimiento parcial de los requisitos para la obtención del grado de MAESTRÍA EN CIENCIAS Y ARTES...MILITARES Estudios Generales Por MAYOR FELIPE CÉSPEDES TEJERA, EJÉRCITO NACIONAL DOMINICANO Licenciado en Ciencias Sociales, Universidad...ANSI Std. Z39.18 ii MAESTRÍA EN ARTES Y CIENCIAS MILITARES PÁGINA DE APROBACIÓN DE LA TESIS Nombre del Candidato: Mayor Felipe Céspedes Tejera
2007-10-01
AD_________________ Award Number: DAMD17-03-1-0774 TITLE: CHEK2 *1100delC Variant and BRCA1/2...NUMBER CHEK2 *1100delC Variant and BRCA1/2-Negative Familial Breast Cancer - A Family- Based Genetic Association Study 5b. GRANT NUMBER DAMD17...association between the CHEK2 *1100delC gene variant and breast cancer among BRCA1/2-negative families. Vital to DNA replication and normal growth of breast
Bliznetz, Elena A; Lalayants, Maria R; Markova, Tatiana G; Balanovsky, Oleg P; Balanovska, Elena V; Skhalyakho, Roza A; Pocheshkhova, Elvira A; Nikitina, Natalya V; Voronin, Sergey V; Kudryashova, Elena K; Glotov, Oleg S; Polyakov, Alexander V
2017-01-01
Although mutations in the GJB2 gene sequence make up the majority of variants causing autosomal-recessive non-syndromic hearing loss, few large deletions have been shown to contribute to DFNB1 deafness. Currently, genetic testing for DFNB1 hearing loss includes GJB2 sequencing and DFNB1 deletion analysis for two common large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854). Here, we report frequency in Russia, clinical significance and evolutionary origins of a 101 kb deletion, del(GJB2-D13S175), recently identified by us. In multiethnic cohort of 1104 unrelated hearing loss patients with biallelic mutations at the DFNB1 locus, the del(GJB2-D13S175) allele frequency of up to 0.5% (11/2208) was determined and this allele was shown to be predominantly associated with profound sensorineural hearing loss. Additionally, eight previously unpublished GJB2 mutations were described in this study. All patients carrying del(GJB2-D13S175) were of the Ingush ancestry. Among normal hearing individuals, del(GJB2-D13S175) was observed in Russian Republic of Ingushetia with a carrier rate of ~1% (2/241). Analysis of haplotypes associated with the deletion revealed a common founder in the Ingushes, with age of the deletion being ~3000 years old. Since del(GJB2-D13S175) was missed by standard methods of GJB2 analysis, del(GJB2-D13S175) detection has been added to our routine testing strategy for DFNB1 hearing loss. PMID:28405014
Do, Bao Anh Julie; Lands, Larry C; Saint-Martin, Christine; Mascarella, Marco A; Manoukian, John J; Daniel, Sam J; Nguyen, Lily H P
2014-07-01
Numerous authors have sought to describe genotype-phenotype correlations in cystic fibrosis (CF), notably to pancreatic insufficiency and lung disease. However, few studies have focused on the association between the F508del genotype and response to sinus surgery. The objective of this study is to assess the effect of the F508del genotype on sinonasal disease severity and outcomes following functional endoscopic sinus surgery (FESS) in a pediatric population. A retrospective chart review of 153 children with CF seen at a tertiary care pediatric hospital from 1995 to 2008 was performed. Patients were classified into one of three groups according to F508del genotype, either as homozygous, heterozygous or not carrying a F508del mutation. The sinonasal disease phenotype of the three groups was compared based on clinical and radiological findings, extent of endoscopic sinus surgery and rate of revision surgery. The relationship between the F508del genotype and pancreatic insufficiency was confirmed (p<0.05). There was no association between the F508del genotype and increased need for FESS (p=0.75). Moreover, no association was established between F508del homozygosity and presence of nasal polyps, Lund-Mackay score, extent of surgery or length of postoperative hospitalization. The rates of revision surgery did not differ significantly among the three genotypes analyzed (p=0.59). There is no clear association between the F508del genotype and an increased need for FESS, extent of surgery, or revision surgery. Given the phenotypic variability of sinonasal disease in patients with CF, a prospective study is needed to better understand outcomes following FESS and the contribution of gene modifiers to this effect. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.
Cosson, Adrien; Chapiro, Elise; Belhouachi, Nabila; Cung, Hong-Anh; Keren, Boris; Damm, Frederik; Algrin, Caroline; Lefebvre, Christine; Fert-Ferrer, Sandra; Luquet, Isabelle; Gachard, Nathalie; Mugneret, Francine; Terre, Christine; Collonge-Rame, Marie-Agnes; Michaux, Lucienne; Rafdord-Weiss, Isabelle; Talmant, Pascaline; Veronese, Lauren; Nadal, Nathalie; Struski, Stephanie; Barin, Carole; Helias, Catherine; Lafage, Marina; Lippert, Eric; Auger, Nathalie; Eclache, Virginie; Roos-Weil, Damien; Leblond, Veronique; Settegrana, Catherine; Maloum, Karim; Davi, Frederic; Merle-Beral, Helene; Lesty, Claude; Nguyen-Khac, Florence
2014-08-01
Deletions of the long arm of chromosome 14 [del(14q)] are rare but recurrently observed in mature B-cell neoplasms, particularly in chronic lymphocytic leukemia (CLL). To further characterize this aberration, we studied 81 cases with del(14q): 54 of CLL and 27 of small lymphocytic lymphoma (SLL), the largest reported series to date. Using karyotype and fluorescence in situ hybridization (FISH), the most frequent additional abnormality was trisomy 12 (tri12), observed in 28/79 (35%) cases, followed by del13q14 (12/79, 15%), delTP53 (11/80, 14%) delATM (5/79, 6%), and del6q21 (3/76, 4%). IGHV genes were unmutated in 41/53 (77%) patients, with a high frequency of IGHV1-69 (21/52, 40%). NOTCH1 gene was mutated in 14/45 (31%) patients. There was no significant difference in cytogenetic and molecular abnormalities between CLL and SLL. Investigations using FISH and SNP-array demonstrated the heterogeneous size of the 14q deletions. However, a group with the same del(14)(q24.1q32.33) was identified in 48% of cases. In this group, tri12 (P = 0.004) and NOTCH1 mutations (P = 0.02) were significantly more frequent than in the other patients. In CLL patients with del(14q), median treatment-free survival (TFS) was 27 months. In conclusion, del(14q) is associated with tri12 and with pejorative prognostic factors: unmutated IGHV genes (with over-representation of the IGHV1-69 repertoire), NOTCH1 mutations, and a short TFS. © 2014 Wiley Periodicals, Inc.
A Rice PECTATE LYASE-LIKE Gene Is Required for Plant Growth and Leaf Senescence1[OPEN
Leng, Yujia; Yang, Yaolong; Ren, Deyong; Dai, Liping; Wang, Yuqiong; Chen, Long; Tu, Zhengjun; Gao, Yihong; Zhu, Li; Hu, Jiang; Gao, Zhenyu; Guo, Longbiao; Lin, Yongjun
2017-01-01
To better understand the molecular mechanisms behind plant growth and leaf senescence in monocot plants, we identified a mutant exhibiting dwarfism and an early-senescence leaf phenotype, termed dwarf and early-senescence leaf1 (del1). Histological analysis showed that the abnormal growth was caused by a reduction in cell number. Further investigation revealed that the decline in cell number in del1 was affected by the cell cycle. Physiological analysis, transmission electron microscopy, and TUNEL assays showed that leaf senescence was triggered by the accumulation of reactive oxygen species. The DEL1 gene was cloned using a map-based approach. It was shown to encode a pectate lyase (PEL) precursor that contains a PelC domain. DEL1 contains all the conserved residues of PEL and has strong similarity with plant PelC. DEL1 is expressed in all tissues but predominantly in elongating tissues. Functional analysis revealed that mutation of DEL1 decreased the total PEL enzymatic activity, increased the degree of methylesterified homogalacturonan, and altered the cell wall composition and structure. In addition, transcriptome assay revealed that a set of cell wall function- and senescence-related gene expression was altered in del1 plants. Our research indicates that DEL1 is involved in both the maintenance of normal cell division and the induction of leaf senescence. These findings reveal a new molecular mechanism for plant growth and leaf senescence mediated by PECTATE LYASE-LIKE genes. PMID:28455404
A Rice PECTATE LYASE-LIKE Gene Is Required for Plant Growth and Leaf Senescence.
Leng, Yujia; Yang, Yaolong; Ren, Deyong; Huang, Lichao; Dai, Liping; Wang, Yuqiong; Chen, Long; Tu, Zhengjun; Gao, Yihong; Li, Xueyong; Zhu, Li; Hu, Jiang; Zhang, Guangheng; Gao, Zhenyu; Guo, Longbiao; Kong, Zhaosheng; Lin, Yongjun; Qian, Qian; Zeng, Dali
2017-06-01
To better understand the molecular mechanisms behind plant growth and leaf senescence in monocot plants, we identified a mutant exhibiting dwarfism and an early-senescence leaf phenotype, termed dwarf and early-senescence leaf1 ( del1 ). Histological analysis showed that the abnormal growth was caused by a reduction in cell number. Further investigation revealed that the decline in cell number in del1 was affected by the cell cycle. Physiological analysis, transmission electron microscopy, and TUNEL assays showed that leaf senescence was triggered by the accumulation of reactive oxygen species. The DEL1 gene was cloned using a map-based approach. It was shown to encode a pectate lyase (PEL) precursor that contains a PelC domain. DEL1 contains all the conserved residues of PEL and has strong similarity with plant PelC. DEL1 is expressed in all tissues but predominantly in elongating tissues. Functional analysis revealed that mutation of DEL1 decreased the total PEL enzymatic activity, increased the degree of methylesterified homogalacturonan, and altered the cell wall composition and structure. In addition, transcriptome assay revealed that a set of cell wall function- and senescence-related gene expression was altered in del1 plants. Our research indicates that DEL1 is involved in both the maintenance of normal cell division and the induction of leaf senescence. These findings reveal a new molecular mechanism for plant growth and leaf senescence mediated by PECTATE LYASE-LIKE genes. © 2017 American Society of Plant Biologists. All Rights Reserved.
Expendable Bathythermograph (XBT) Measurements in the Western Alboran Sea, October 1982
1983-08-01
aircraft, shore- based radar, and shore- based meteorological stations cooperated in an intense measurement effort. As one part of this effort USNS BARTLETT...de Castillejo (1972). Contribucion a1 Conocimiento del mar de Alboran: III. Variaciones del Remolino Anticiclonico. Boletin del Institute Espanol
Gómez, Luis Alberto; Montoya, Gladis; Rivera, Hernán Mauricio; Hernández, Juan Carlos
2017-04-01
Introducción. El virus del Zika (ZIKV) es un flavivirus con envoltura, transmitido a los seres humanos principalmente por el vector Aedes aegypti. La infección por ZIKV se ha asociado con un gran neurotropismo y con efectos neuropáticos, como el síndrome de Guillain-Barré en el adulto y la microcefalia fetal y posnatal, así como con un síndrome de infección congénita similar al producido por el virus de la rubéola (RV).Objetivo. Comparar las estructuras moleculares de la proteína de envoltura E del virus del Zika (E-ZIKV) y de la E1 del virus de la rubéola (E1-RV), y plantear posibles implicaciones en el neurotropismo y en las alteraciones del sistema nervioso asociadas con el ZIKV.Materiales y métodos. La secuencia de aminoácidos de la proteína E-ZIKV (PDB: 5iZ7) se alineó con la de la glucopreteína E1 del virus de la rubéola (PDB: 4ADG). Los elementos de la estructura secundaria se determinaron usando los programas Vector NTI Advance®, DSSP y POSA, así como herramientas de gestión de datos (AlignX®). Uno de los criterios principales de comparación y alineación fue la asignación de residuos estructuralmente equivalentes, con más de 70 % de identidad.Resultados. La organización estructural de la proteína E-ZIKV (PDB: 5iZ7) fue similar a la de E1-RV (PDB: 4ADG) (70 a 80 % de identidad), y se observó una correspondencia con la estructura definida para las glucoproteínas de fusión de membrana de clase II de los virus con envoltura. E-ZIKV y E1-RV exhibieron elementos estructurales de fusión muy conservados en la región distal del dominio II, asociados con la unión a los receptores celulares de entrada del virus de la rubéola (glucoproteína de mielina del oligodendrocito, Myelin Oligodendrocyte Glycoprotein, MOG), y con los receptores celulares Axl del ZIKV y de otros flavivirus.Conclusión. La comparación de las proteínas E-ZIKV y E1-RV es un paso necesario hacia la definición de otros factores moleculares determinantes del neurotropismo y la patogenia del ZIKV, el cual puede contribuir a generar estrategias de diagnóstico, prevención y tratamiento de las complicaciones neurológicas inducidas por el ZIKV.
ERIC Educational Resources Information Center
Granados Beltrán, Carlo
2013-01-01
Many of the actions of Colombia's National Programme for the Development of Foreign Languages (Programa Nacional de Desarrollo de Lenguas Extranjeras--PNDLE) have been carried out in elementary and secondary education, but there is not much information about its impact in institutions of higher education. The aim of this article is to present the…
ERIC Educational Resources Information Center
Moreno Garcia, Teresa, Ed.
2001-01-01
This Spanish- and Portuguese-language bulletin presents articles covering child development programs with varying degrees of parent involvement. As explained in the bulletin's opening editorial, the articles focus on the keys to good parenting, influences such as the programs environmental context, goals and methods on the degree and manner of…
Predicting Argentine Jet Fuel Prices
2007-03-01
en Argentina. El Salvador University, IDICSO. Área Recursos Energéticos y Planificación para el Desarrollo . August 2004. 14 August 2006.http...economics, engineering, and the social and biological sciences (Kutner, 2005:2), but successful application of this method requires not only a deep...iikkiii y εββββ +++++= ,,22,110 ... , (3.1) where y represents the dependent variable (in our case
ERIC Educational Resources Information Center
Rauscher, Frances H.
Several studies have examined the effects of music instruction on children's abilities in other disciplines. Other studies have explored the effects of listening to music on adults' spatial abilities. Noting that these two sets of findings have been confused, leading to claims that listening to music can improve children's academic abilities, this…
ERIC Educational Resources Information Center
Ponce, Juan; Bedi, Arjun S.
2010-01-01
Throughout Latin America, conditional cash transfer (CCT) programs play an important role in social policy. These programs aim to influence the accumulation of human capital, as well as reduce poverty. In terms of educational outcomes, a number of impact evaluation studies have shown that such programs have led to an increase in school enrollment,…
Impact of U.S. Foreign Policy and Assistance in El Salvador
2012-05-03
forestry and environmental education, community organization and economic development, rural health and sanitation and youth development. USAID’s...The compact includes $88 million for technical assistance and financial services to farmers and rural businesses, $100 million to strengthen...Report, February 27, 2009. 31FUSADES (Fundación Salvadoreña para el Desarrollo Económico y Social). 2003. Oportunidad, seguridad, legitimidad
ERIC Educational Resources Information Center
Bergen, Doris
Although pretend play has long been part of the early childhood curriculum, recent emphasis on accountability in education seems to have led to a decline in the general understanding of the contribution that high-quality play can make to children's cognitive development in the early years. This Spanish-language Digest defines the cluster of…
ERIC Educational Resources Information Center
Zierer, Ernesto
This monograph discusses the problem of the language barrier in scientific and technological development in terms of several parameters describing the flow of scientific information from one language to another. The numerical values of the language barrier parameters of the model are calculated in the field of information on second language…
ERIC Educational Resources Information Center
Trujeque Moreno, Eva Estefania; Encinas Prudencio, Fátima; Thomas-Ruzic, Maria
2015-01-01
This article presents a multi-theoretical model to address processes of "authorship development" in the English as a foreign language teaching profession. Working within a sociocultural perspective of second-language teacher education, the authors examined six experienced nonnative English-speaking teacher-researchers. Perceptions of…
ERIC Educational Resources Information Center
Amar Amar, Jose Juan
In Latin America and the Caribbean, 240 million people, or 50 percent of the population, live in poverty. This report, written in Spanish, summarizes research by the Proyecto Costa Atlantica into the effects of such widespread poverty on the cognitive and social development of children. After an introduction on the general responses of the…
ERIC Educational Resources Information Center
Echeverri Acosta, Luz Marina; McNulty Ferri, Maria
2010-01-01
This paper reports an action research project which examined the foreign language reading comprehension of public school eighth graders who experienced a directed reading-thinking approach with strategies for comprehension and application. The strategies used were prediction, prior knowledge, graphic organizers, and questions. Data analyzed…
ERIC Educational Resources Information Center
Linke, Hildegard
2000-01-01
Seeks to justify the educational practice of dialogue and its contributions to community development. Contends that the central element and cause of dialogue is constituted within the non-formal educational process. States that Paulo Freire emphasizes the role of words and its basis as a creative synthesis of theory and practice. (BT)
ERIC Educational Resources Information Center
Melendez Alicea, Juan
1992-01-01
Presents steps taken in designing, justifying, and implementing an experimental study designed to investigate the effectiveness of distance education as a methodology for developing thinking skills. A discussion reviews major findings of the study by comparing student experiences from multimedia distance education and student experiences from…
USDA-ARS?s Scientific Manuscript database
En este articulo se reporta por primera vez para el Peru una especies del genero Nielsonia Young, 1977, de material procedente del Departamento de Tumbes. El genero ha sido reportada anteriormente de Ecuador, como unico registro para Sudamerica, y America Central. El unico especimen hembra encontra...
33 CFR 110.65 - Indian River Bay, Del.
Code of Federal Regulations, 2012 CFR
2012-07-01
... 33 Navigation and Navigable Waters 1 2012-07-01 2012-07-01 false Indian River Bay, Del. 110.65 Section 110.65 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY ANCHORAGES ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing...
Pastoral del Nino: Bringing the Abundant Life to Paraguayan Children
ERIC Educational Resources Information Center
Austin, Ann Berghout; Aquino, Cyle; Burro, Elizabeth
2007-01-01
Pastoral del Nino is transforming children's lives in rural Paraguay. Part of Pastoral Social (Catholic Social Services), Pastoral del Nino's primary focus is to bring "vida en abundancia" (the abundant life) to families by ensuring that mothers survive childbirth and children reach their first birthdays. In addition, the organization…
Calidad del aire interior en las escuelas
EPA ha desarrollado el Programa de Herramientas de Calidad del Aire Interior para las Escuelas para reducir la exposición a los contaminantes ambientales en las mismas a través de la adopción voluntaria de las prácticas para manejar la calidad del aire int
2013-06-13
Estado Mayor del Ejército de EE. UU. En cumplimiento parcial de los requisitos para la obtención del grado de MAESTRÍA EN CIENCIAS Y ARTES MILITARES...Estudios Generales Por WALTER D. HERNANDEZ CARVAJAL, MAYOR DEL EJÉRCITO DE HONDURAS Licenciado en Ciencias Militares...Form 298 (Rev. 8-98) Prescribed by ANSI Std. Z39.18 ii MAESTRÍA EN ARTES Y CIENCIAS MILITARES PÁGINA DE APROBACIÓN DE LA TESIS Nombre del
Resultados del relevamiento de HI en el Cielo Austral: 3. Relevamiento de Nubes de Alta Velocidad
NASA Astrophysics Data System (ADS)
Morras, R.; Bajaja, E.; Arnal, E. M.; Pöppel, W. G. L.
Los resultados del relevamiento de HI del Hemisferio Austral fueron reprocesados con el fin de incrementar su sensibilidad. Así, se utilizó esta nueva base de datos con el fin de obtener un nuevo relevamiento de Nubes de Alta Velocidad en el cielo austral. El ruido r.m.s. alcanzado es de 0.015-0.020 K, con una resolución espectral de 8 km/seg. El cubrimiento espacial del relevamiento mejora en un factor 16 al realizado por Bajaja et al (1985).
Multi-InDel Analysis for Ancestry Inference of Sub-Populations in China
Sun, Kuan; Ye, Yi; Luo, Tao; Hou, Yiping
2016-01-01
Ancestry inference is of great interest in diverse areas of scientific researches, including the forensic biology, medical genetics and anthropology. Various methods have been published for distinguishing populations. However, few reports refer to sub-populations (like ethnic groups) within Asian populations for the limitation of markers. Several InDel loci located very tightly in physical positions were treated as one marker by us, which is multi-InDel. The multi-InDel shows potential as Ancestry Inference Marker (AIM). In this study, we performed a genome-wide scan for multi-InDels as AIM. After examining the FST distributions in the 1000 Genomes Database, 12 candidates were selected and validated for eastern Asian populations. A multiplexed assay was developed as a panel to genotype 12 multi-InDel markers simultaneously. Ancestry component analysis with STRUCTURE and principal component analysis (PCA) were employed to estimate its capability for ancestry inference. Furthermore, ancestry assignments of trial individuals were conducted. It proved to be very effective when 210 samples from Han and Tibetan individuals in China were tested. The panel consisting of multi-InDel markers exhibited considerable potency in ancestry inference, and was suggested to be applied in forensic practices and genetic population studies. PMID:28004788
NASA Technical Reports Server (NTRS)
Wakahara, M.; Neff, A. W.; Malacinski, G. M.
1984-01-01
Several media were tested for the extent to which they promoted high fertilization efficiencies in ovulated, stripped Xenopus eggs. One medium was selected for maintaining eggs in a 'delayed fertilization' (DelF) condition. DelF eggs displayed several unusual characteristics, including shift of the center of gravity, prominent sperm entrance site, and occasional polyspermy. The frequency of normal pattern formation varied according to the length of time eggs were maintained in the DelF condition. Various developmental abnormalities were observed during gastrulation, neurulation, and organogenesis. Most abnormalities appeared, however, to be related to morphogenesis of the endoderm. Primordial germ cell (PGC) development was examined in DelF eggs which displayed normal external morphological features at the swimming tadpole stage. PGC counts were usually normal in short-duration (eg, 5 hr) DelF eggs, but frequently substantially reduced or completely diminished in longer-duration (eg, 25h) tadpoles. Six spawnings were compared and shown to exhibit considerable variability in fertility, morphogenesis, and PGC development. Yolk platelet shifts and developmental parameters were examined in two additional spawnings. The subcortical cytoplasm in which the germ plasm is normally localized appeared to be disrupted in longer duration DelF eggs. That observation may account for low PGC counts in DelF tadpoles.
Nonmutagenic carcinogens induce intrachromosomal recombination in dividing yeast cells.
Schiestl, R H
1993-12-01
A large number of animal and human carcinogens without apparent genotoxic activity exist (nonmutagenic carcinogens) that are difficult or impossible to detect with the currently used short-term tests. Because of the association of carcinogenesis with genome rearrangement, a system selecting for intrachromosomal recombination (DEL recombination) that results in genome rearrangement has been constructed in the yeast Saccharomyces cerevisiae. Because DEL recombination is under different genetic control than interchromosomal recombination and meiotic recombination, it is probably due to a different mechanism. It has been found that DEL recombination is readily inducible by 10 mutagenic carcinogens and 17 nonmutagenic carcinogens that are not detectable (false negatives) with the Ames assay. In addition, three out of four mutagens that do not cause cancer (false positives in the Ames assay) do not induce DEL recombination. DEL recombination is inducible by UV only in dividing cells but not in cells synchronized in the G1 or G2 phase of the cell cycle. Interchromosomal recombination, on the other hand, is inducible in G1 but not in G2. The nonmutagenic carcinogens induce DEL recombination only in actively growing cells, which may give some indication as to their mechanism. Further characterization of the mechanism involved in induction of DEL recombination may contribute to the understanding of the biological activity of nonmutagenic carcinogens.
Li, Juan; Prins, Daniel; Park, Hyun Jung; Grinfeld, Jacob; Gonzalez-Arias, Carlos; Loughran, Stephen; Dovey, Oliver M; Klampfl, Thorsten; Bennett, Cavan; Hamilton, Tina L; Pask, Dean C; Sneade, Rachel; Williams, Matthew; Aungier, Juliet; Ghevaert, Cedric; Vassiliou, George S; Kent, David G; Green, Anthony R
2018-02-08
Somatic mutations in the endoplasmic reticulum chaperone calreticulin (CALR) are detected in approximately 40% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). Multiple different mutations have been reported, but all result in a +1-bp frameshift and generate a novel protein C terminus. In this study, we generated a conditional mouse knockin model of the most common CALR mutation, a 52-bp deletion. The mutant novel human C-terminal sequence is integrated into the otherwise intact mouse CALR gene and results in mutant CALR expression under the control of the endogenous mouse locus. CALR del/+ mice develop a transplantable ET-like disease with marked thrombocytosis, which is associated with increased and morphologically abnormal megakaryocytes and increased numbers of phenotypically defined hematopoietic stem cells (HSCs). Homozygous CALR del/del mice developed extreme thrombocytosis accompanied by features of MF, including leukocytosis, reduced hematocrit, splenomegaly, and increased bone marrow reticulin. CALR del/+ HSCs were more proliferative in vitro, but neither CALR del/+ nor CALR del/del displayed a competitive transplantation advantage in primary or secondary recipient mice. These results demonstrate the consequences of heterozygous and homozygous CALR mutations and provide a powerful model for dissecting the pathogenesis of CALR-mutant ET and PMF. © 2018 by The American Society of Hematology.
Evaluación de la utilidad diagnóstica de la versión española del cuestionario al informador «AD8»☆
Pardo, C. Carnero; de la Vega Cotarelo, R.; Alcalde, S. López; Aparicio, C. Martos; Carrillo, R. Vílchez; Gavilán, E. Mora; Galvin, J.E.
2012-01-01
Introducción El AD8 es un cuestionario al informador breve que puede ser autoaplicado y facilita la identificación de deterioro cognitivo (DC); nuestro objetivo es evaluar la utilidad diagnóstica (UD) de una versión española. Material y métodos Estudio transversal en una muestra clínica de díadas paciente/ informador, 330 sujetos con sospecha de DC o demencia (DEM) y 71 controles. Se ha evaluado la consistencia interna (α de Cronbach) y la validez (correlaciones parciales con estadio GDS, Fototest e índice funcional [IF]). La UD se ha evaluado para no DC vs DC (GDS 3–4) por medio del área bajo la curva ROC (aROC) y se ha considerado mejor punto de corte aquel que hacía máximo el índice de Youden. Resultados En la muestra, 105 no tenían DC, 99 tenían DC sin DEM y 203 DEM. La consistencia interna es alta (α 0,90, IC del 95%, 0,89–0,92), al igual que las correlaciones con GDS (r = 0,72, p < 0,001), Fototest (r = −0,61, p < 0,001) e IF (r = 0,59, p < 0,001). El aROC del AD8 es 0,90 (IC del 95%, 0,86–0,93), sin diferencia significativa con la del Fototest (aROC 0,93, IC del 95%, 0,89–0,96); el mejor punto de corte es 3/4 con sensibilidad de 0,93 (IC del 95%, 0,88–0,96), especificidad de 0,81 (IC del 95%, 0,72–0,88) y el 88,8% de las clasificaciones correctas. El uso conjunto de AD8 y Fototest mejora de forma significativa la UD de ambos (aROC 0,96, IC del 95%, 0,93–0,98, p < 0,05). Conclusiones La versión española del AD8 conserva las cualidades psicométricas y la UD de la versión original; su uso combinado con el Fototest mejora de forma significativa la UD de ambos. PMID:22652137
Ren, Hong Yu; Grove, Diane E.; De La Rosa, Oxana; Houck, Scott A.; Sopha, Pattarawut; Van Goor, Fredrick; Hoffman, Beth J.; Cyr, Douglas M.
2013-01-01
Cystic fibrosis (CF) is a fatal genetic disorder associated with defective hydration of lung airways due to the loss of chloride transport through the CF transmembrane conductance regulator protein (CFTR). CFTR contains two membrane-spanning domains (MSDs), two nucleotide-binding domains (NBDs), and a regulatory domain, and its channel assembly requires multiple interdomain contacts. The most common CF-causing mutation, F508del, occurs in NBD1 and results in misfolding and premature degradation of F508del-CFTR. VX-809 is an investigational CFTR corrector that partially restores CFTR function in people who are homozygous for F508del-CFTR. To identify the folding defect(s) in F508del-CFTR that must be repaired to treat CF, we explored the mechanism of VX-809 action. VX-809 stabilized an N-terminal domain in CFTR that contains only MSD1 and efficaciously restored function to CFTR forms that have missense mutations in MSD1. The action of VX-809 on MSD1 appears to suppress folding defects in F508del-CFTR by enhancing interactions among the NBD1, MSD1, and MSD2 domains. The ability of VX-809 to correct F508del-CFTR is enhanced when combined with mutations that improve F508del-NBD1 interaction with MSD2. These data suggest that the use of VX-809 in combination with an additional CFTR corrector that suppresses folding defects downstream of MSD1 may further enhance CFTR function in people with F508del-CFTR. PMID:23924900
Ren, Hong Yu; Grove, Diane E; De La Rosa, Oxana; Houck, Scott A; Sopha, Pattarawut; Van Goor, Fredrick; Hoffman, Beth J; Cyr, Douglas M
2013-10-01
Cystic fibrosis (CF) is a fatal genetic disorder associated with defective hydration of lung airways due to the loss of chloride transport through the CF transmembrane conductance regulator protein (CFTR). CFTR contains two membrane-spanning domains (MSDs), two nucleotide-binding domains (NBDs), and a regulatory domain, and its channel assembly requires multiple interdomain contacts. The most common CF-causing mutation, F508del, occurs in NBD1 and results in misfolding and premature degradation of F508del-CFTR. VX-809 is an investigational CFTR corrector that partially restores CFTR function in people who are homozygous for F508del-CFTR. To identify the folding defect(s) in F508del-CFTR that must be repaired to treat CF, we explored the mechanism of VX-809 action. VX-809 stabilized an N-terminal domain in CFTR that contains only MSD1 and efficaciously restored function to CFTR forms that have missense mutations in MSD1. The action of VX-809 on MSD1 appears to suppress folding defects in F508del-CFTR by enhancing interactions among the NBD1, MSD1, and MSD2 domains. The ability of VX-809 to correct F508del-CFTR is enhanced when combined with mutations that improve F508del-NBD1 interaction with MSD2. These data suggest that the use of VX-809 in combination with an additional CFTR corrector that suppresses folding defects downstream of MSD1 may further enhance CFTR function in people with F508del-CFTR.
Manipulating proteostasis to repair the F508del-CFTR defect in cystic fibrosis.
Esposito, Speranza; Tosco, Antonella; Villella, Valeria R; Raia, Valeria; Kroemer, Guido; Maiuri, Luigi
2016-12-01
Cystic fibrosis (CF) is a lethal monogenic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that entails the (diagnostic) increase in sweat electrolyte concentrations, progressive lung disease with chronic inflammation and recurrent bacterial infections, pancreatic insufficiency, and male infertility. Therapies aimed at restoring the CFTR defect have emerged. Thus, a small molecule which facilitates chloride channel opening, the potentiator Ivacaftor, has been approved for the treatment of CF patients bearing a particular class of rare CFTR mutations. However, small molecules that directly target the most common misfolded CFTR mutant, F508del, and improve its intracellular trafficking in vitro, have been less effective than expected when tested in CF patients, even in combination with Ivacaftor. Thus, new strategies are required to circumvent the F508del-CFTR defect. Airway and intestinal epithelial cells from CF patients bearing the F508del-CFTR mutation exhibit an impressive derangement of cellular proteostasis, with oxidative stress, overactivation of the tissue transglutaminase (TG2), and disabled autophagy. Proteostasis regulators such as cysteamine can rescue and stabilize a functional F508del-CFTR protein through suppressing TG2 activation and restoring autophagy in vivo in F508del-CFTR homozygous mice, in vitro in CF patient-derived cell lines, ex vivo in freshly collected primary patient's nasal cells, as well as in a pilot clinical trial involving homozygous F508del-CFTR patients. Here, we discuss how the therapeutic normalization of defective proteostasis can be harnessed for the treatment of CF patients with the F508del-CFTR mutation.
Genetic modifiers of CHEK2*1100delC associated breast cancer risk
Muranen, Taru A.; Greco, Dario; Blomqvist, Carl; Aittomäki, Kristiina; Khan, Sofia; Hogervorst, Frans; Verhoef, Senno; Pharoah, Paul D.P.; Dunning, Alison M.; Shah, Mitul; Luben, Robert; Bojesen, Stig E.; Nordestgaard, Børge G.; Schoemaker, Minouk; Swerdlow, Anthony; García-Closas, Montserrat; Figueroa, Jonine; Dörk, Thilo; Bogdanova, Natalia V.; Hall, Per; Li, Jingmei; Khusnutdinova, Elza; Bermisheva, Marina; Kristensen, Vessela; Borresen-Dale, Anne-Lise; Peto, Julian; dos Santos Silva, Isabel; Couch, Fergus J.; Olson, Janet E.; Hillemans, Peter; Park-Simon, Tjoung-Won; Brauch, Hiltrud; Hamann, Ute; Burwinkel, Barbara; Marme, Frederik; Meindl, Alfons; Schmutzler, Rita K.; Cox, Angela; Cross, Simon S.; Sawyer, Elinor J.; Tomlinson, Ian; Lambrechts, Diether; Moisse, Matthieu; Lindblom, Annika; Margolin, Sara; Hollestelle, Antoinette; Martens, John W.M.; Fasching, Peter A.; Beckmann, Matthias W.; Andrulis, Irene L.; Knight, Julia A.; Anton-Culver, Hoda; Ziogas, Argyrios; Giles, Graham G.; Milne, Roger L.; Brenner, Hermann; Arndt, Volker; Mannermaa, Arto; Kosma, Veli-Matti; Chang-Claude, Jenny; Rudolph, Anja; Devilee, Peter; Seynaeve, Caroline; Hopper, John L.; Southey, Melissa C.; John, Esther M.; Whittemore, Alice S.; Bolla, Manjeet K.; Wang, Qin; Michailidou, Kyriaki; Dennis, Joe; Easton, Douglas F.; Schmidt, Marjanka K.; Nevanlinna, Heli
2016-01-01
Purpose CHEK2*1100delC is a founder variant in European populations conferring a 2–3 fold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100delC is modified by other genetic factors in a multiplicative fashion. We have investigated this empirically using data from the Breast Cancer Association Consortium (BCAC). Methods With genotype data of 39,139 (624 1100delC carriers) BC patients and 40,063 (224) healthy controls from 32 BCAC studies, we analyzed the combined risk effects of CHEK2*1100delC and 77 common variants in terms of a polygenic risk score (PRS) and pairwise interaction. Results The PRS conferred an odds ratio (OR) of 1.59 [95% CI 1.21–2.09] per standard deviation for BC for CHEK2*1100delC carriers and 1.58 [1.55–1.62] for non-carriers. No evidence for deviation from the multiplicative model was found. The OR for the highest quintile of the PRS was 2.03 [0.86–4.78] for CHEK2*1100delC carriers placing them to the high risk category according to UK NICE guidelines. OR for the lowest quintile was 0.52 [0.16–1.74], indicating life-time risk close to population average. Conclusion Our results confirm the multiplicative nature of risk effects conferred by CHEK2*1100delC and the common susceptibility variants. Furthermore, the PRS could identify the carriers at a high life-time risk for clinical actions. PMID:27711073
Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
Muranen, Taru A; Greco, Dario; Blomqvist, Carl; Aittomäki, Kristiina; Khan, Sofia; Hogervorst, Frans; Verhoef, Senno; Pharoah, Paul D P; Dunning, Alison M; Shah, Mitul; Luben, Robert; Bojesen, Stig E; Nordestgaard, Børge G; Schoemaker, Minouk; Swerdlow, Anthony; García-Closas, Montserrat; Figueroa, Jonine; Dörk, Thilo; Bogdanova, Natalia V; Hall, Per; Li, Jingmei; Khusnutdinova, Elza; Bermisheva, Marina; Kristensen, Vessela; Borresen-Dale, Anne-Lise; Investigators, Nbcs; Peto, Julian; Dos Santos Silva, Isabel; Couch, Fergus J; Olson, Janet E; Hillemans, Peter; Park-Simon, Tjoung-Won; Brauch, Hiltrud; Hamann, Ute; Burwinkel, Barbara; Marme, Frederik; Meindl, Alfons; Schmutzler, Rita K; Cox, Angela; Cross, Simon S; Sawyer, Elinor J; Tomlinson, Ian; Lambrechts, Diether; Moisse, Matthieu; Lindblom, Annika; Margolin, Sara; Hollestelle, Antoinette; Martens, John W M; Fasching, Peter A; Beckmann, Matthias W; Andrulis, Irene L; Knight, Julia A; Investigators, kConFab/Aocs; Anton-Culver, Hoda; Ziogas, Argyrios; Giles, Graham G; Milne, Roger L; Brenner, Hermann; Arndt, Volker; Mannermaa, Arto; Kosma, Veli-Matti; Chang-Claude, Jenny; Rudolph, Anja; Devilee, Peter; Seynaeve, Caroline; Hopper, John L; Southey, Melissa C; John, Esther M; Whittemore, Alice S; Bolla, Manjeet K; Wang, Qin; Michailidou, Kyriaki; Dennis, Joe; Easton, Douglas F; Schmidt, Marjanka K; Nevanlinna, Heli
2017-05-01
CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100delC is modified by other genetic factors in a multiplicative fashion. We have investigated this empirically using data from the Breast Cancer Association Consortium (BCAC). Using genotype data from 39,139 (624 1100delC carriers) BC patients and 40,063 (224) healthy controls from 32 BCAC studies, we analyzed the combined risk effects of CHEK2*1100delC and 77 common variants in terms of a polygenic risk score (PRS) and pairwise interaction. The PRS conferred odds ratios (OR) of 1.59 (95% CI: 1.21-2.09) per standard deviation for BC for CHEK2*1100delC carriers and 1.58 (1.55-1.62) for noncarriers. No evidence of deviation from the multiplicative model was found. The OR for the highest quintile of the PRS was 2.03 (0.86-4.78) for CHEK2*1100delC carriers, placing them in the high risk category according to UK NICE guidelines. The OR for the lowest quintile was 0.52 (0.16-1.74), indicating a lifetime risk close to the population average. Our results confirm the multiplicative nature of risk effects conferred by CHEK2*1100delC and the common susceptibility variants. Furthermore, the PRS could identify carriers at a high lifetime risk for clinical actions.Genet Med advance online publication 06 October 2016.
Women's legal knowledge: a case study of Mexican urban dwellers.
Rivera Izabal, L M
1995-06-01
In Mexico, the nongovernmental organization Sevisio, Desarrollo y Paz, A.C. (SEDEPAC) is helping poor women acquire legal knowledge in an economic climate characterized by the increased feminization of poverty brought about by the Structural Adjustment Program. The Mexican legal system is grounded in a patriarchal tradition, and the codified laws continue to favor men. Women were not granted full citizenship until 1953, and discrimination against women was not addressed in Mexican law until 1974 as the country prepared to host the First UN International Women's Conference. However, legal advances are not being applied in the family or in larger society where men remain in power. Mexico also distinguishes between private law and public law. Because domestic violence falls in the realm of private law, authorities are loathe to follow-up on women's complaints in this area. Since its founding in 1983, SEDEPAC has applied a gender perspective to its activities and programs. SEDEPAC held its first women's legal workshop in 1987 and realized that most poor women have no knowledge of existing laws or their rights, that alternative legal services for women are scarce, that existing laws must be changed, and that the authoritarian and conservative legal system helps maintain cultural stereotypes. Since then, SEDEPAC has held annual workshops, follow-up meetings, and training sessions and has provided counseling. The main topics addressed are women's social conditions; violence and the penal code; civil rights, power, and dependency; women's bodies and reproductive rights; and women's organization and leadership. The workshops use techniques of popular education such as group participation and use of gossip as a communication tool. The workshops have changed participants' lives and led to the formation of an independent Popular Defenders' Coordination.
EPA has developed a technology transfer handbook for the EMPACT Paso del Norte Project. The EMPACT Paso del Norte Environmental Monitoring Project is a mobile vehicle emissions project that involves the international community of El Paso, TX; Sundland Park, NM; and Juarez, Mexico...
33 CFR 110.65 - Indian River Bay, Del.
Code of Federal Regulations, 2013 CFR
2013-07-01
... 33 Navigation and Navigable Waters 1 2013-07-01 2013-07-01 false Indian River Bay, Del. 110.65... ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing... State highway bridge across Indian River Inlet; thence 174°, 600 feet; thence 264°, 800 feet; thence 354...
33 CFR 110.65 - Indian River Bay, Del.
Code of Federal Regulations, 2010 CFR
2010-07-01
... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Indian River Bay, Del. 110.65... ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing... State highway bridge across Indian River Inlet; thence 174°, 600 feet; thence 264°, 800 feet; thence 354...
33 CFR 110.65 - Indian River Bay, Del.
Code of Federal Regulations, 2011 CFR
2011-07-01
... 33 Navigation and Navigable Waters 1 2011-07-01 2011-07-01 false Indian River Bay, Del. 110.65... ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing... State highway bridge across Indian River Inlet; thence 174°, 600 feet; thence 264°, 800 feet; thence 354...
33 CFR 110.65 - Indian River Bay, Del.
Code of Federal Regulations, 2014 CFR
2014-07-01
... 33 Navigation and Navigable Waters 1 2014-07-01 2014-07-01 false Indian River Bay, Del. 110.65... ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing... State highway bridge across Indian River Inlet; thence 174°, 600 feet; thence 264°, 800 feet; thence 354...
63. G.F.H., photographer July 30, 1932 DEL NORTE COUNTY, SECTION ...
63. G.F.H., photographer July 30, 1932 DEL NORTE COUNTY, SECTION A, HIGHWAY 1. 1-DN A #124, STA. 164=00 SHOWING DRAINAGE CONDITIONS, G.F.H., 7-30-32. - Redwood National & State Parks Roads, California coast from Crescent City to Trinidad, Crescent City, Del Norte County, CA
Analisis espacial de las areas protegidas terrestres de Puerto Rico
M. Quinones; W.A. Gould; J. Castro-Prieto; S. Martinuzzi
2013-01-01
En este mapa de investigacion describimos las areas protegidas terrestres de Puerto Rico basado en elementos naturales y antropogenicos del paisaje. Utilizamos datos geoespaciales para calcular la extension y representatividad de elementos del paisaje dentro de las areas protegidas de Puerto Rico, i.e., cobertura del terreno (Gould et al. 2007), asentamientos urbanos...
Defense.gov - Dignity, Honor, Respect - For the Fallen
combat operation passes through Dover Air Force Base, Del. The responsibility, and honor, of preparing Operations Center. Stories Dignified Transfer Pays Tribute to Fallen DOVER AIR FORCE BASE, Del., March 12 vehicle to the Air Force Mortuary Affairs Operations Center at Dover Air Force Base, Del. Story Center
Ecuadorean-Peruvian Rivalry in the Upper Amazon,
1978-01-01
8217 y el Ecuador. Documentos anexos a la Memoria del Per. Madrid, 1903. Vol. III, Document 86- p. 216 ff. 2. Jorge W. Villacres Moscoso, Historia...AMISTAD Y LIMITES ENTRE PERU Y ECUADOR Los Gobiernos del Peru’ y del Ecuador, deseando dar solucior. a la cuestic~n de Ifmites que por largo tiempo los
USDA-ARS?s Scientific Manuscript database
Los ácaros constituyen un grupo abundante y diverso que ocupa diferentes hábitats en árboles frutales y la estructura y disposición del follaje y ramas del mango, contribuyen significativamente a que se presente gran diversidad de ácaros benéficos y dañinos asociados a esta especie frutal. En Colomb...
33 CFR 334.110 - Delaware Bay off Cape Henlopen, Del.; naval restricted area.
Code of Federal Regulations, 2011 CFR
2011-07-01
..., Del.; naval restricted area. 334.110 Section 334.110 Navigation and Navigable Waters CORPS OF....110 Delaware Bay off Cape Henlopen, Del.; naval restricted area. (a) The area. Beginning at a point on... regulations in this section shall be enforced by the Commandant, Fourth Naval District, and such agencies as...
[Recommendations to improve the scientific communication process in the Revista Médica del IMSS].
Álvarez, Ivón
2016-01-01
In order to improve the position of the Revista Médica del Instituto Mexicano del Seguro Social among the different journals, in this editorial we enumerate a series of recommendations to ameliorate the practices of the different actors who participate in the scientific communication process of this journal.
Modeling landscapes and past vegetation patterns of New Mexico's Rio Del Oso Valley
Richard D. Periman
2005-01-01
Humans have interacted with the landscape and ecosystem of New Mexico's Rio del Oso Valley for thousands of years. Throughout the Holocene, various cultures have dramatically affected and altered the Rio del Oso. An interdisciplinary research approach, incorporating geomorphology, paleobotany, archaeology, and history, provides a broad range of methodologies and...
Chandran, Divya; Rickert, Joshua; Huang, Yingxiang; Steinwand, Michael A; Marr, Sharon K; Wildermuth, Mary C
2014-04-09
In plants, the activation of immunity is often inversely correlated with growth. Mechanisms that control plant growth in the context of pathogen challenge and immunity are unclear. Investigating Arabidopsis infection with the powdery mildew fungus, we find that the Arabidopsis atypical E2F DEL1, a transcriptional repressor known to promote cell proliferation, represses accumulation of the hormone salicylic acid (SA), an established regulator of plant immunity. DEL1-deficient plants are more resistant to pathogens and slightly smaller than wild-type. The resistance and size phenotypes of DEL1-deficient plants are due to the induction of SA and activation of immunity in the absence of pathogen challenge. Moreover, Enhanced Disease Susceptibility 5 (EDS5), a SA transporter required for elevated SA and immunity, is a direct repressed target of DEL1. Together, these findings indicate that DEL1 control of SA levels contributes to regulating the balance between growth and immunity in developing leaves. Copyright © 2014 Elsevier Inc. All rights reserved.
[La diagnosi del disturbo da uso di alcol dal punto di vista psicologico].
Coriale, Giovanna; Fiorentino, Daniela; Porrari, Raffaella; Battagliese, Gemma; Capriglione, Ida; Cereatti, Federica; Iannuzzi, Silvia; Mauri, Benilde; Galli, Domenica; Fiore, Marco; Attilia, Maria Luisa; Ceccanti, Mauro
2018-01-01
RIASSUNTO. Il disturbo da uso di alcol (DUA) è uno dei disturbi psichiatrici più comuni nella popolazione generale. Il DUA è caratterizzato da un pattern di bere eccessivo, che si mantiene nonostante gli effetti negativi che l'alcol ha sul funzionamento lavorativo, sulla salute, sulle problematiche legali, sull'educazione e sulla vita sociale. Attualmente, il modello bio-psico-sociale è quello che spiega meglio il DUA. Infatti, molte ricerche hanno fornito evidenze su come il DUA sia una patologia multidimensionale. Variabili biologiche, psicologiche e socio-culturali entrano in gioco nell'eziologia, nella natura, nel mantenimento e nel cambiamento nel tempo del disturbo. La fase diagnostica è un momento importante del processo di cura, perché il successo del trattamento dipende in larga misura dall'esattezza e dall'adeguatezza della diagnosi. La diagnosi clinica si basa su una valutazione globale del funzionamento del paziente e utilizza il colloquio e gli strumenti psicometrici come mezzo di raccolta di informazioni. Questo articolo fornirà una panoramica delle dimensioni psicologiche più importanti da valutare e sui migliori strumenti psicometrici da usare per una diagnosi adeguata.
H2O Nucleation Around Noble Metal Cations
NASA Astrophysics Data System (ADS)
Calaminici, Patrizia; Oropeza Alfaro, Pavel; Juarez Flores, Martin; Köster, Andreas; Beltran, Marcela; Ulises Reveles, J.; Khanna, Shiv N.
2008-03-01
First principle electronic structure calculations have been carried out to investigate the ground state geometry, electronic structure and binding energy of noble metal cations (H2O)n^+ clusters containing up to 10 H2O molecules. The calculations are performed with the density functional theory code deMon2k [1]. Due to the very flat potential energy surface of these systems special care to the numerical stability of energy and gradient calculation must be taken.Comparison of the results obtained with Cu^+, Ag^+ and Au^+ will be shown. This investigation provides insight into the structural arrangement of the water molecules around these metals and a microscopic understanding of the observed incremental binding energy in the case of the gold cation based on collision induced dissociation experiments. [1] A.M. Köster, P. Calaminici, M.E. Casida, R. Flores-Moreno, G. Geudtner, A. Goursot, T. Heine, A. Ipatov, F. Janetzko, J. Martin del Campo, S. Patchkovski, J.U. Reveles, A. Vela and D.R. Salahub, deMon2k, The deMon Developers, Cinvestav, 2006
Tang, Z; Diamond, M A; Chen, J-M; Holly, T A; Bonow, R O; Dasgupta, A; Hyslop, T; Purzycki, A; Wagner, J; McNamara, D M; Kukulski, T; Wos, S; Velazquez, E J; Ardlie, K; Feldman, A M
2007-10-01
The goal of this experiment was to identify the presence of genetic variants in the adenosine receptor genes and assess their relationship to infarct size in a population of patients with ischemic cardiomyopathy. Adenosine receptors play an important role in protecting the heart during ischemia and in mediating the effects of ischemic preconditioning. We sequenced DNA samples from 273 individuals with ischemic cardiomyopathy and from 203 normal controls to identify the presence of genetic variants in the adenosine receptor genes. Subsequently, we analyzed the relationship between the identified genetic variants and infarct size, left ventricular size, and left ventricular function. Three variants in the 3'-untranslated region of the A(1)-adenosine gene (nt 1689 C/A, nt 2206 Tdel, nt 2683del36) and an informative polymorphism in the coding region of the A3-adenosine gene (nt 1509 A/C I248L) were associated with changes in infarct size. These results suggest that genetic variants in the adenosine receptor genes may predict the heart's response to ischemia or injury and might also influence an individual's response to adenosine therapy.
BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.
Ruiz-Flores, Pablo; Sinilnikova, Olga M; Badzioch, Michael; Calderon-Garcidueñas, A L; Chopin, Sandrine; Fabrice, Odefrey; González-Guerrero, J F; Szabo, Csilla; Lenoir, Gilbert; Goldgar, David E; Barrera-Saldaña, Hugo A
2002-12-01
The entire coding regions of BRCA1 and BRCA2 were screened for mutations by heteroduplex analysis in 51 Mexican breast cancer patients. One BRCA1 and one BRCA2 truncating mutation each was identified in the group of 32 (6%) early-onset breast cancer patients (< or =35 years). Besides these two likely deleterious mutations, eight rare variants of unknown significance, mostly in the BRCA2 gene, were detected in six of 32 (19%) early-onset breast cancer cases and in three of 17 (18%) site-specific breast cancer families, one containing a male breast cancer case. No mutations or rare sequence variants have been identified in two additional families including each an early-onset breast cancer case and an ovarian cancer patient. The two truncating mutations (BRCA1 3857delT; BRCA2 2663-2664insA) and six of the rare variants have never been reported before and may be of country-specific origin. The majority of the alterations appeared to be distinct, with only one of them being observed in more than one family. Copyright 2002 Wiley-Liss, Inc.
Valdes, Natalia; Soto, Paola; Cottet, Luis; Alarcon, Paula; Gonzalez, Alex; Castillo, Antonio; Corsini, Gino; Tello, Mario
2015-01-01
Janthinobacterium lividum is a Gram-negative bacterium able to produce violacein, a pigment with antimicrobial and antitumor properties. Janthinobacterium lividum colonizes the skin of some amphibians and confers protection against fungal pathogens. The mechanisms underlying this association are not well understood. In order to identify the advantages for the bacterium to colonize amphibian skin we sequenced Janthinobacterium lividum strain MTR, a strain isolated from Cajón del Maipo, Chile. The strain has capnophilic behavior, with growth favored by high concentrations (5 %) of carbon dioxide. Its genome is 6,535,606 bp in size, with 5,362 coding sequences and a G + C content of 62.37 %. The presence of genes encoding for products that participate in the carbon fixation pathways (dark CAM pathways), and the entire set of genes encoding for the enzymes of the glyoxylate cycle may explain the capnophilic behavior and allow us to propose that the CO2 secreted by the skin of amphibians is the signal molecule that guides colonization by Janthinobacterium lividum.
[Trends of adolescent injury and poisoning mortality].
Celis, Alfredo; Gómez-Lomelí, Zoila; Armas, Jesús
2003-01-01
To describe the external causes of death and mortality trends due to injuries and poisoning in Mexican adolescents, from 1979 to 1997. This is a descriptive study of deaths occurring in Mexico from 1979 to 1997. Data were abstracted, coded, and entered in electronic format, by Instituto Nacional de Estadística, Geografía e Informática (National Institute of Statistics, Geography, and Informatics, INEGI). Data were analyzed during the second half of year 2000, in Jalisco, at the Research Unit of Epidemiologic and Adolescent Health Services, of Instituto Mexicano del Seguro Social (Mexican Institute of Social Security, IMSS). Injuries and poisoning ranked first as causes of adolescent mortality in Mexico (rate = 13.35/100,000), decreasing 41.4% from 1979 to 1997. However, an increasing trend was observed for homicides and suicides (9.5% y 104.0%, respectively). The most frequent mechanisms of injury were: motor vehicles, firearms, intoxications, suffocation, and drowning. Injuries and poisoning in developing countries show differences from those reported in developed countries. Further studies should be conducted to find preventive measures consistent with the sociocultural and environmental determinants of injuries and poisoning.
Medición de densidades medias de meteoritos: test del método de inmersión
NASA Astrophysics Data System (ADS)
Steren, G.
Se evaluó una técnica simple para medir las densidades medias de meteoritos, basada en el Método de Arquímedes y que utiliza cuentas de vidrio de 40μ en lugar de un fluído esto presenta la ventaja de no ser intrusivo ni químicamente reactivo (D.Britt and G.Consolmagno, 1996, B.A.A.S.28,1106). El estudio, realizado en junio de este año por participantes de la VI Escuela de Verano del Observatorio del Vaticano, empleó 37 muestras de la colección del Observatorio del Vaticano, de las cuales 26 eran Condritas, 1 Pallasita y 1 Howardita; algunas de ellas ya habian sido estudiadas por otras técnicas aunque también se incluyeron muestras no estudiadas anteriormente.
Chivu, Elena Cristina; Artero-Fullana, Ana; Alfonso García, Antonio; Sánchez Juan, Carlos
2016-07-19
Introducción: conociendo la elevada prevalencia de la desnutrición hospitalaria, se hace necesaria su detección precoz. Cuando, por diversos motivos, no es posible realizar una valoración completa del estado nutricional, se recomienda el empleo de herramientas validadas de cribado nutricional. Estas ayudarían a detectar de forma rápida a aquellos pacientes que necesiten de un tratamiento nutricional.Objetivos: determinar la prevalencia del riesgo de desnutrición, en el Hospital General Universitario de Valencia, empleando para ello la herramienta de cribado nutricional HEMAN y comprobar si la implementación de esta herramienta en la práctica clínica, sería lo más adecuado.Métodos: estudio transversal, realizado sobre una muestra de 1.099 pacientes ingresados en un hospital terciario. A todos ellos se les realizó el cribado nutricional HEMAN a las 24-48 horas del ingreso. Las variables cualitativas se compararon mediante Chi-cuadrado, y las cuantitativas mediante el test t de Student.Resultados: la prevalencia del riesgo de desnutrición fue del 33,5%. Los pacientes que resultaron positivos en el cribado (HEMAN ≥ 3), tenían mayor edad que los pacientes normonutridos, referían pérdidas de peso entre el 5-10%, el 55,2% disminuyó su ingesta a menos del 50% de la habitual. Además, ingresaron con patologías consideradas de leves a moderadas. La utilización del método HEMAN como herramienta de cribado, resultó ser práctica y efectiva, y ayudó a disminuir el tiempo empleado con cada paciente encuestado evaluado.Conclusiones: se detectó una elevada prevalencia de riesgo de desnutrición entre los pacientes evaluados, por lo tanto se hace imprescindible la utilización de métodos de cribado nutricional en la rutina diaria del hospital, para ello recomendamos especialmente la utilización del método HEMAN.
Gentzsch, Martina; Ren, Hong Y.; Houck, Scott A.; Quinney, Nancy L.; Cholon, Deborah M.; Sopha, Pattarawut; Chaudhry, Imron G.; Das, Jhuma; Dokholyan, Nikolay V.; Randell, Scott H.
2016-01-01
Cystic fibrosis (CF) is a lethal recessive genetic disease caused primarily by the F508del mutation in the CF transmembrane conductance regulator (CFTR). The potentiator VX-770 was the first CFTR modulator approved by the FDA for treatment of CF patients with the gating mutation G551D. Orkambi is a drug containing VX-770 and corrector VX809 and is approved for treatment of CF patients homozygous for F508del, which has folding and gating defects. At least 30% of CF patients are heterozygous for the F508del mutation with the other allele encoding for one of many different rare CFTR mutations. Treatment of heterozygous F508del patients with VX-809 and VX-770 has had limited success, so it is important to identify heterozygous patients that respond to CFTR modulator therapy. R117H is a more prevalent rare mutation found in over 2,000 CF patients. In this study we investigated the effectiveness of VX-809/VX-770 therapy on restoring CFTR function in human bronchial epithelial (HBE) cells from R117H/F508del CF patients. We found that VX-809 stimulated more CFTR activity in R117H/F508del HBEs than in F508del/F508del HBEs. R117H expressed exclusively in immortalized HBEs exhibited a folding defect, was retained in the ER, and degraded prematurely. VX-809 corrected the R117H folding defect and restored channel function. Because R117 is involved in ion conductance, VX-770 acted additively with VX-809 to restore CFTR function in chronically treated R117H/F508del cells. Although treatment of R117H patients with VX-770 has been approved, our studies indicate that Orkambi may be more beneficial for rescue of CFTR function in these patients. PMID:27402691
Gentzsch, Martina; Ren, Hong Y; Houck, Scott A; Quinney, Nancy L; Cholon, Deborah M; Sopha, Pattarawut; Chaudhry, Imron G; Das, Jhuma; Dokholyan, Nikolay V; Randell, Scott H; Cyr, Douglas M
2016-09-01
Cystic fibrosis (CF) is a lethal recessive genetic disease caused primarily by the F508del mutation in the CF transmembrane conductance regulator (CFTR). The potentiator VX-770 was the first CFTR modulator approved by the FDA for treatment of CF patients with the gating mutation G551D. Orkambi is a drug containing VX-770 and corrector VX809 and is approved for treatment of CF patients homozygous for F508del, which has folding and gating defects. At least 30% of CF patients are heterozygous for the F508del mutation with the other allele encoding for one of many different rare CFTR mutations. Treatment of heterozygous F508del patients with VX-809 and VX-770 has had limited success, so it is important to identify heterozygous patients that respond to CFTR modulator therapy. R117H is a more prevalent rare mutation found in over 2,000 CF patients. In this study we investigated the effectiveness of VX-809/VX-770 therapy on restoring CFTR function in human bronchial epithelial (HBE) cells from R117H/F508del CF patients. We found that VX-809 stimulated more CFTR activity in R117H/F508del HBEs than in F508del/F508del HBEs. R117H expressed exclusively in immortalized HBEs exhibited a folding defect, was retained in the ER, and degraded prematurely. VX-809 corrected the R117H folding defect and restored channel function. Because R117 is involved in ion conductance, VX-770 acted additively with VX-809 to restore CFTR function in chronically treated R117H/F508del cells. Although treatment of R117H patients with VX-770 has been approved, our studies indicate that Orkambi may be more beneficial for rescue of CFTR function in these patients. Copyright © 2016 the American Physiological Society.
NASA Astrophysics Data System (ADS)
Bustos, E.; Velasco, A. M.; Martín, I.; Lavín, C.
Los procesos de fotoionización son de una importancia fundamental [1] y encuentran aplicación en un gran número de contextos científicos: Astrofísica [2], química de las radiaciones, biología. Los investigadores de dichos campos, necesitan de valores de fiables de secciones eficaces para la fotoionización parcial, la Fotoabsorción, así como para los procesos de fotofragmentación en amplios intervalos espectrales, particularmente en estudios de modelización [3-5]. En este trabajo se ha centrado la atención sobre el oxido nítrico, que se ha considerado apropiado y relevante por varios motivos: por el trascendental papel que representa en la física y química de la alta atmosfera [6], aparte de por estar íntimamente relacionado con los problemas de contaminación. Los procesos de recombinación disociativa [7] del NO, donde los estados Rydberg se encuentran directamente implicados, son relevantes, por ejemplo, en las regiones E y F de la ionosfera [7]. En este trabajo se estudia la fotoionización del NO desde el estado fundamental con la versión molecular del método del orbital de defecto cuántico (MQDO). Para ello se calcula el diferencial de las fuerzas de oscilador parciales que constituyen los canales de fotoionización del NO desde el estado fundamental. La continuidad del diferencial de fuerza de oscilador calculada a través del umbral de fotoionización, esto es, en las regiones del espectro discreta y del continua, se adopta como criterio de calidad la escasez de datos comparativos [8].
Caravalí-Meza, Nuris Yohana; Jiménez-Cruz, Arturo; Bacardí-Gascón, Montserrat
2016-03-25
Antecedentes: se ha reportado una asociación entre el aumento del consumo de bebidas azucaradas y varias enfermedades metabólicas. Objetivo: evaluar el efecto del consumo de bebidas azucaradas sobre la obesidad en un periodo de 12 meses en mexicanos de 15 a 19 años. Métodos: el diseño del estudio fue prospectivo, con 12 meses de seguimiento. Se midieron el peso, la talla y la circunferencia de cintura (CC), y se calculó el puntaje z de índice de masa corporal (IMC). Se aplicó un cuestionario sobre consumo de 19 bebidas. Para evaluar la predicción del aumento de IMC y de CC como resultado del consumo de bebidas, se utilizó análisis de regresión logística binomial. Resultados: al final del estudio se evaluó al 89% (1.344). El promedio de edad fue de 15 años, 55% fueron mujeres. La prevalencia de sobre- peso y obesidad al final del estudio fue del 33%. Al final del estudio, un 25% de los participantes consumían más de 50 g de azúcar proveniente de las bebidas. Quienes consumieron 50 g de azúcar o más al día presentaron mayor riesgo de aumentar la CC ≥ 2 cm (RR = 1,19, IC 95%, 1,03-1,39, p = 0,02). Quienes mantuvieron el consumo de bebidas azucaradas durante 12 meses, al compararlo con los que disminuyeron el consumo a 10 g/día, presentaron 71% más probabilidades de aumentar a un puntaje de IMC ≥ 2 (RR = 1,71, IC 95%, 1,03-2,86, p = 0,039). Conclusión: el alto consumo de bebidas azucaradas aumentó las probabilidades de aumentar de peso y de circunferencia de cintura.
Donaldson, Scott H; Pilewski, Joseph M; Griese, Matthias; Cooke, Jon; Viswanathan, Lakshmi; Tullis, Elizabeth; Davies, Jane C; Lekstrom-Himes, Julie A; Wang, Linda T
2018-01-15
Tezacaftor (formerly VX-661) is an investigational small molecule that improves processing and trafficking of the cystic fibrosis transmembrane conductance regulator (CFTR) in vitro, and improves CFTR function alone and in combination with ivacaftor. To evaluate the safety and efficacy of tezacaftor monotherapy and of tezacaftor/ivacaftor combination therapy in subjects with cystic fibrosis homozygous for F508del or compound heterozygous for F508del and G551D. This was a randomized, placebo-controlled, double-blind, multicenter, phase 2 study (NCT01531673). Subjects homozygous for F508del received tezacaftor (10 to 150 mg) every day alone or in combination with ivacaftor (150 mg every 12 h) in a dose escalation phase, as well as in a dosage regimen testing phase. Subjects compound heterozygous for F508del and G551D, taking physician-prescribed ivacaftor, received tezacaftor (100 mg every day). Primary endpoints were safety through Day 56 and change in sweat chloride from baseline through Day 28. Secondary endpoints included change in percent predicted FEV 1 (ppFEV 1 ) from baseline through Day 28 and pharmacokinetics. The incidence of adverse events was similar across treatment arms. Tezacaftor (100 mg every day)/ivacaftor (150 mg every 12 h) resulted in a 6.04 mmol/L decrease in sweat chloride and 3.75 percentage point increase in ppFEV 1 in subjects homozygous for F508del, and a 7.02 mmol/L decrease in sweat chloride and 4.60 percentage point increase in ppFEV 1 in subjects compound heterozygous for F508del and G551D from baseline through Day 28 (P < 0.05 for all). These results support continued clinical development of tezacaftor (100 mg every day) in combination with ivacaftor (150 mg every 12 h) in subjects with cystic fibrosis. Clinical trial registered with www.clinicaltrials.gov (NCT01531673).
Gu, Juan; Sun, An-Yuan; Wang, Xue-Dong; Shao, Chao-Peng; Li, Zheng; Huang, Li-Hua; Pan, Zhao-Lin; Wang, Qing-Ping; Sun, Guang-Ming
2014-04-01
The characteristics of the D antigen are important as they influence the immunogenicity of D variant cells. Several studies on antigenic sites have been reported in normal D positive, weak D and partial D cases, including a comprehensive analysis of DEL types in Caucasians. The aim of this study was to assess D antigen density and epitopes on the erythrocyte surface of Asian type DEL phenotypic individuals carrying the RHD1227A allele in the Chinese population. A total of 154 DEL phenotypic individuals carrying the RHD1227A allele were identified through adsorption and elution tests and polymerase chain reaction analysis with sequence-specific primers in the Chinese population. D antigen density on the erythrocyte surface of these individuals was detected using a flow cytometric method. An erythrocyte sample with known D antigen density was used as a standard. Blood samples from D-negative and D-positive individuals were used as controls. In addition, D antigen epitopes on the erythrocyte surface of DEL individuals carrying the RHD1227A allele were investigated with 18 monoclonal anti-D antibodies specific for different D antigen epitopes. The means of the median fluorescence intensity of D antigen on the erythrocyte membrane surface of D-negative, D-positive and DEL individuals were 2.14±0.25, 193.61±11.43 and 2.45±0.82, respectively. The DEL samples were estimated to have approximately 22 D antigens per cell. The samples from all 154 DEL individuals reacted positively with 18 monoclonal anti-D antibodies specific for different D antigen epitopes. In this study, D antigen density on the erythrocyte surface of DEL individuals carrying the RHD1227A allele was extremely low, there being only very few antigenic molecules per cell, but the D antigen epitopes were grossly complete.
Plonis, J; Kalniete, D; Nakazawa-Miklasevica, M; Irmejs, A; Vjaters, E; Gardovskis, J; Miklasevics, E
2015-12-01
Our objective was to determine: 1) whether the checkpoint kinase 2 ( CHEK2 ) del5395 (g.27417113-27422508 del, NC_000022.11) is a founder mutation in the Latvian population, 2) if there is an association between CHEK2 del5395 mutation and cancer risk, and 3) and whether the CHEK2 del5395 mutation impacts cancer predisposition in Chernobyl disaster liquidators (the civil and military personnel who were called upon to deal with consequences of the 1986 nuclear disaster) as well as geriatric populations. We recruited 438 breast cancer patients, 568 colorectal cancer patients, 399 ovarian cancer patients, 419 prostate cancer patients, 526 healthy blood donors, 480 Chernobyl disaster liquidators and 444 geriatric cancer-free participants. DNA samples were isolated from blood samples and subjected to multiplex polymerase chain reaction (PCR). The truncation of del5395 was estimated by fragment size of the multiplex PCR.All groups were compared to the healthy blood donors using Fisher's exact test. All p values were two-sided and the odds ratios (OR) calculated by two-by-two table. In cancer groups, the del5395 mutation was most frequently observed in the ovarian cancer group (1.00%, OR = 1.32). In control groups, the del5395 mutation was most frequent (0.76%) in the healthy donors, which exceeded its frequency in the Chernobyl liquidators group and the geriatric group by 0.01 and 0.08%, respectively. For all groups, the OR appeared to be >1 only in ovarian cancer patients. However, OR rates showed no statistical significance in either cancer or control groups, with the p value fluctuating within the range of 0.39-1.00. The CHEK2 gene del5395 is a founder mutation in the Latvian population, which, however, does not have a direct impact on genetic predisposition toward colorectal, breast, ovarian and prostate cancer.
Weyl fermions in a family of Gödel-type geometries with a topological defect
NASA Astrophysics Data System (ADS)
Garcia, G. Q.; Oliveira, J. R. De S.; Furtado, C.
In this paper, we study Weyl fermions in a family of Gödel-type geometries in Einstein general relativity. We also consider that these solutions are embedded in a topological defect background. We solve the Weyl equation and find the energy eigenvalues and eigenspinors for all three cases of Gödel-type geometries where a topological defect is passing through them. We show that the presence of a topological defect in these geometries contributes to the modification of the spectrum of energy. The energy zero modes for all three cases of the Gödel geometries are discussed.
Observaciones del CH interestelar y el continuo en 3,3 GHz
NASA Astrophysics Data System (ADS)
Olano, C. A.; Combi, J. A.; Pöppel, W.; Benaglia, P.; Sanz, A. J.; Bava, J. A.
Se informa sobre el proyecto que se lleva a cabo en el IAR con el propósito de observar las líneas hiperfinas del estado fundamental del CH y el continuo en la banda de 3,3 GHz. El nuevo receptor construído en nuestro laboratorio para tal fin se instaló sobre uno de los radiotelescopios, funcionando conjuntamente con los sistemas de procesamiento actuales del IAR. Los resultados de las primeras observaciones, realizadas tanto en las líneas espectrales como en el continuo sobre fuentes conocidas, fueron satisfactorios.
Study of Aerospace Materials, Coatings, Adhesions and Processes. Aircraft Icing Processes. Volume 2.
1984-09-14
la direccio’n del eje de la son - da. DATOS ELECTRICOS Rint’erna 20.26 . R(OC) =5.35 Q R(22 0 C).. 5.93 Q R(100 0 C) 7.43 . Roperacio’n... son las constantes de calibraci6n propias del sensor. 1INT A FN. de Informe I-231/S10/84.076Pg. . La temperatura de funcionamiento se deterrnin6 por l...funcionamiento del sensor, T la temperatura ambiente, la densidad y v la velocidad. A, B y n son las constantes de cal- z braci6n propias del
Contribución al flujo infrarrojo de las estrellas Be de la recombinación dielectrónica del MgII
NASA Astrophysics Data System (ADS)
Cruzado, A.; di Rocco, H.; Ringuelet, A.
Para evaluar la contribución del proceso de recombinación dielectrónica del átomo de MgII al exceso de flujo infrarrojo observado en las estrellas Be, calculamos la energía emitida en las líneas originadas por este proceso. Se evaluaron los efectos de las condiciones físicas del medio, como la temperatura electrónica y la densidad electrónica, sobre el flujo emitido. Se consideró también la influencia de una posible opacidad.
Yu, Jiang-Yong; Yu, Si-Fan; Wang, Shu-Hang; Bai, Hua; Zhao, Jun; An, Tong-Tong; Duan, Jian-Chun; Wang, Jie
2016-03-21
Epidermal growth factor receptor (EGFR) mutations, including a known exon 19 deletion (19 del) and exon 21 L858R point mutation (L858R mutation), are strong predictors of the response to EGFR tyrosine kinase inhibitor (EGFR-TKI) treatment in lung adenocarcinoma. However, whether patients carrying EGFR 19 del and L858R mutations exhibit different responsiveness to EGFR-TKIs and what are the potential mechanism for this difference remain controversial. This study aimed to investigate the clinical outcomes of EGFR-TKI treatment in patients with EGFR 19 del and L858R mutations and explore the genetic heterogeneity of tumors with the two mutation subtypes. Of 1127 patients with advanced lung adenocarcinoma harboring EGFR 19 del or L858R mutations, 532 received EGFR-TKI treatment and were included in this study. EGFR 19 del and L858R mutations were detected by using denaturing high-performance liquid chromatography (DHPLC). T790M mutation, which is a common resistant mutation on exon 20 of EGFR, was detected by amplification refractory mutation system (ARMS). Next-generation sequencing (NGS) was used to explore the genetic heterogeneity of tumors with EGFR 19 del and L858R mutations. Of the 532 patients, 319 (60.0%) had EGFR 19 del, and 213 (40.0%) had L858R mutations. The patients with EGFR 19 del presented a significantly higher overall response rate (ORR) for EGFR-TKI treatment (55.2% vs. 43.7%, P = 0.017) and had a longer progression-free survival (PFS) after first-line EGFR-TKI treatment (14.4 vs. 11.4 months, P = 0.034) compared with those with L858R mutations. However, no statistically significant difference in overall survival (OS) was observed between the two groups of patients. T790M mutation status was analyzed in 88 patients before EGFR-TKI treatment and 134 after EGFR-TKI treatment, and there was no significant difference in the co-existence of T790M mutation with EGFR 19 del and L858R mutations before EGFR-TKI treatment (5.6% vs. 8.8%, P = 0.554) or after treatment (24.4% vs. 35.4%, P = 0.176). In addition, 24 patients with EGFR 19 del and 19 with L858R mutations were analyzed by NGS, and no significant difference in the presence of multiple somatic mutations was observed between the two genotypes. Patients with EGFR 19 del exhibit longer PFS and higher ORR compared with those with L858R mutations. Whether the heterogeneity of tumors with EGFR 19 del and L858R mutations contribute to a therapeutic response difference needs further investigation.
USSR Report, International Affairs.
1986-08-19
the Soviet Union? /Answer/ First, some clarification. Our department concerns itself with ques - tions of cooperation with the countries of Tropical...not very understandable how the right-wingers, es - pecially the neo-fascists, were able to "win over" voters to their side. ■ <.,■,.<■;■>■ .U...determine the nation’s development in years to come. FOOTNOTES 1. ESTRATEGIA , Mexico City, 1984, No 56; Plan Nacional de Desarrollo 1983- 1988
ERIC Educational Resources Information Center
Bruera, Ricardo
From a spiritualistic point of view, this discussion offers a vision of education for the 1980s focusing on the restoration of formal teaching and the revaluation of the school. Emphasis is given to exploration of relationships between personal autonomy, intelligence, teaching, learning, and an epistemologically based curriculum. It is argued that…