Deconstructing Normalisation: Clearing the Way for Inclusion.

ERIC Educational Resources Information Center

Culham, Andrew; Nind, Melanie

2003-01-01

This paper considers two major movements affecting the lives of people with intellectual disabilities: normalization and inclusion. It reviews the aims, processes, and outcomes of the normalization and social role valorization movement and explores its compatibility with inclusion. Lessons from normalization are applied to the inclusion movement.…

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.

Cambios históricos en el aporte terrígeno de la cuenca del Río de la Plata sobre la plataforma interna Uruguaya

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.

Alvarado score in the diagnostic of pain in the right lower quadrant.

PubMed

Lada, Paul Eduardo

2017-09-08

Acute appendicitis neither suspected nor diagnosed could develop a perforation or otherwise it would take to removing of a normal appendix. Utilization of a clinical score system for aided diagnosis of this pathology and can reduce a negative appendicitis. National Clinicas Hospital. Córdoba. Argentina. Prospective and protocolized study. 594 patients were studied between October 2002 and December 2013. 312 males and 282 females their age average was 26.2 years. Alvarado score was realized in all patients when they entered. According clinic and second valoration with the score surgical exploration was decided in 574 patients. The remaining 20 were excluded due to other pathology. The diagnosis in acute appendicitis was confirmed by surgical finding and histopathologic studies. In surgical finding we showed 594 patients (91,28 %) had acute appendicitis. There was no operative mortality. Respects morbidity there was 1,74 % of medical and 13,93 % of surgical complications. The anatomo-pathologic report showed a normal cecal appendix in 50. The incidence of negative appendicectomy was about 8.71 %. The utilization of score related to the surgical and anatomo-pathologic finding confirmed it was appreciable from 6 points to acute appendicitis diagnosis.   RESUMENAntecedentes: La apendicitis aguda no sospechada y diagnosticada puede evolucionar hacia la perforación, ó por el contrario conduce a la remoción de un apéndice normal. Objetivo: La utilización de un  sistema  de Score, desde un  punto de vista clínico, para el diagnóstico de esta patología y lograr disminuir las apendicetomías negativas.Lugar de Aplicación: Hospital Nacional de Clínicas. Córdoba. (Argentina)Diseño: Estudio prospectivo y protocolizado.Material y Métodos: Comprende a 594 pacientes estudiados entre octubre de 2002 y diciembre del 2013. De ellos, 312 eran del sexo masculino y 282 del femenino, con una edad promedio de 26,2 años de edad. A todos los pacientes se les realizo al ingreso el Score de Alvarado. En base a la clínica y a una segunda valoración con el Score se decidió la exploración quirúrgica en 574 pacientes. De los 20 restantes, fueron excluidos por otra patología. El diagnóstico de apendicitis aguda fue confirmado por los hallazgos quirúrgicos y la  anatomía patológica.Resultados: En los hallazgos operatorios se encontró en 524 pacientes (91,28%) que tenían una apendicitis aguda. No hubo mortalidad postoperatoria. En relación a la morbilidad hubo un 1,74 % de complicaciones médicas y un 13,93 % de las quirúrgicas. El informe anatomopatológico mostró en 50 pacientes un apéndice cecal normal. Por lo tanto la incidencia de las apendicetomías negativas fue del 8,71%. Conclusiones: La utilización del Score en relación a los hallazgos quirúrgicos y anatomopatológicos confirma que fue sensible a partir de 6 puntos para el diagnóstico de apendicitis aguda.

[National Academy of Medicine, one hundred and fifty-four academic year].

PubMed

Mansilla-Olivares, Armando

2017-01-01

El incalculable valor que atesora la Academia Nacional de Medicina, su enorme influencia y repercusión sobre la toma de decisiones médico-científico-epidemiológicas, radica única y exclusivamente en el dominio del conocimiento, la mente científica y el talento de todos y cada uno de sus miembros, desde su fundación en 1864 hasta nuestros días.

H3+: superficies de energía potencial, estados y transiciones rovibracionales

NASA Astrophysics Data System (ADS)

Aguado, M. Paniagua Y. A.

Hemos calculado varias superficies globales de energía potencial para el estado fundamental y excitados del sistema H3+ en más de ocho mil geometrías diferentes usando una base (9s 3p 1d)/[4s 3p 1d] en cada átomo de Hidrógeno y mediante un método de cálculo de interacción de configuraciones completa (FCI). Hemos ajustado las superficies a formas analíticas del tipo Aguado y Paniagua con un error promedio menor de 50 cm-1 y menor en el pozo de potencial del estado fundamental. Finalmente hemos calculado y analizado los niveles vibracionales para los dos estados electrónicos más bajos, siendo la desviación respecto de los mejores valores publicados, tanto experimentales como teóricos, de unos pocos números de onda.

Estructura orbital en el Problema Restringido Rectilíneo Isósceles

NASA Astrophysics Data System (ADS)

Orellana, R. B.

Para definir problemas en Mecánica Celeste se utilizan diferentes parámetros. El conocimiento de la dinámica del problema para valores particulares de estos parámetros nos permite entender el comportamiento en casos más generales. El Problema Restringido Rectilíneo Isósceles puede ser considerado como el caso límite del Problema de Sitnikov cuando la excentricidad tiende a uno o como el Problema Isósceles cuando la masa central tiende a cero. Se ha compactificado el espacio de fases y analizado la dinámica en el límite. Esto ha permitido separar el espacio de fases en diferentes regiones dependiendo de las clases de órbitas.

Autoguía para el telescopio 2,15 mts de CASLEO

NASA Astrophysics Data System (ADS)

Aballay, J. A.; Casagrande, A. R.; Pereyra, P. F.; Marún, A. H.

Se está desarrollando un sistema de autoguía para el telescopio de 2,15 mts. El mismo se realizará aprovechando el Offset Guider. Al ocular móvil de éste se vinculará alguna cámara digital (ST4-ST7-CH250) para lograr la visión del objeto. El funcionamiento del equipo será el siguiente: primero, dadas las coordenadas del objeto a observar, se tomarán las coordenadas del telescopio para que, a través de una base de datos, se determine un campo de objetos que sirvan para la cámara de visión, luego, la PC obtendrá el offset entre la estrella de observación y la estrella seleccionada como guía, este valor será trasladado a los motores que posicionarán en forma automática el ocular. Una vez que la estrella es visualizada en la cámara (monitor de PC ) se correrá el programa que guiará el telescopio automáticamente.

Valores, Creencias Y Objectivos: Base del programa de la Escuela Experimental P.K. Yonge. (Values, Beliefs and Objectives: The Basis of Experimental Schools P.K. Yonge's Program.)

ERIC Educational Resources Information Center

Florida Univ., Gainesville. Coll. of Education.

The values, beliefs, and objectives that form the core of the program at the Experimental School P.K. Yonge in the University of Florida are presented in this paper which is written in Spanish. This experimental school serves approximately 900 students from grades one through twelve. The function of the school is to conduct research to solve…

PubMed

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.

Curva de aprendizaje en la colocación de tornillos pediculares percutáneos mínimamente invasivos

PubMed Central

Landriel, Federico; Hem, Santiago; Rasmussen, Jorge; Vecchi, Eduardo; Yampolsky, Claudio

2018-01-01

Resumen Objetivo: El objetivo de este estudio fue estimar la curva de aprendizaje necesaria para la correcta colocación de tornillos transpediculares percutáneos (TTP). Introducción: Los TTP son la forma de instrumentación más utilizada en el tratamiento quirúrgico de lesiones espinales que requieren estabilización. Métodos: Evaluamos retrospectivamente la inserción de 422 TTP (T5 a S1) en 75 pacientes operados entre 2013–2016, bajo guía fluoroscópica bidimensional. El cirujano 1 colocó siempre los tornillos del lado derecho y el cirujano 2, la totalidad del lado izquierdo. El posicionamiento y ruptura pedicular fue determinando con la clasificación tomográfica de Gertzbein. Se comparó la precisión en la colocación de TTP de nuestra serie con una tasa de ruptura de 8,08% (rango de 0,67-20,83%), valor de referencia obtenido de un meta-análisis propio. Resultados: De los 422 TTP, 395 fueron insertados en el pedículo sin violación de su cortical (Grado 1 = 93,6%), 27 (6,4%) rompieron la pared pedicular, de los cuales el 3,8% fue Grado 2, el 1,65% Grado 3 y sólo el 0,9% Grado 4. El Cirujano 1, presentó una tasa se ruptura global de 6,6%, alcanzando valores estándares de precisión al colocar 74 TTP; el Cirujano 2 presentó una tasa de ruptura de 6,1%, alcanzando valores de referencia a los 64 TTP; la diferencia entre ambos no fue estadísticamente significativa (P = 0,9009). Conclusión: En la serie evaluada se evidenció que se necesitan colocar aproximadamente 70 TTP para lograr resultados en términos de exactitud intrapedicular comparables con lo reportado por cirujanos experimentados en esta técnica mínimamente invasiva. PMID:29900033

A comparison of estimated and calculated effective porosity

NASA Astrophysics Data System (ADS)

Stephens, Daniel B.; Hsu, Kuo-Chin; Prieksat, Mark A.; Ankeny, Mark D.; Blandford, Neil; Roth, Tracy L.; Kelsey, James A.; Whitworth, Julia R.

Effective porosity in solute-transport analyses is usually estimated rather than calculated from tracer tests in the field or laboratory. Calculated values of effective porosity in the laboratory on three different textured samples were compared to estimates derived from particle-size distributions and soil-water characteristic curves. The agreement was poor and it seems that no clear relationships exist between effective porosity calculated from laboratory tracer tests and effective porosity estimated from particle-size distributions and soil-water characteristic curves. A field tracer test in a sand-and-gravel aquifer produced a calculated effective porosity of approximately 0.17. By comparison, estimates of effective porosity from textural data, moisture retention, and published values were approximately 50-90% greater than the field calibrated value. Thus, estimation of effective porosity for chemical transport is highly dependent on the chosen transport model and is best obtained by laboratory or field tracer tests. Résumé La porosité effective dans les analyses de transport de soluté est habituellement estimée, plutôt que calculée à partir d'expériences de traçage sur le terrain ou au laboratoire. Les valeurs calculées de la porosité effective au laboratoire sur trois échantillons de textures différentes ont été comparées aux estimations provenant de distributions de taille de particules et de courbes caractéristiques sol-eau. La concordance était plutôt faible et il semble qu'il n'existe aucune relation claire entre la porosité effective calculée à partir des expériences de traçage au laboratoire et la porosité effective estimée à partir des distributions de taille de particules et de courbes caractéristiques sol-eau. Une expérience de traçage de terrain dans un aquifère de sables et de graviers a fourni une porosité effective calculée d'environ 0,17. En comparaison, les estimations de porosité effective de données de texture, de teneur en eau et les valeurs publiées étaient environ 50 à 90% plus fortes que la valeur calibrée sur le terrain. Ainsi, l'estimation de la porosité effective pour le transport en solution dépend fortement du modèle de transport utilisé et est préférable lorsqu'elle est obtenue à partir d'expériences de traçage de laboratoire ou de terrain. Resumen La porosidad efectiva en el análisis del transporte de solutos se suele estimar, en lugar de calcularse a partir de ensayos de trazadores en el campo o el laboratorio. Los valores calculados de la porosidad efectiva en el laboratorio en tres muestras de distintas texturas se compararon con las estimaciones realizadas a partir de las distribuciones de tamaño de partículas y de las curvas características suelo-agua. El ajuste fue bastante pobre y parece que no existe una relación clara entre los valores de la porosidad efectiva calculados mediante los tres métodos. Un ensayo de trazadores en el campo, en un acuífero formado por arenas y gravas, dio lugar a un valor de porosidad efectiva calculado de 0.17. Las estimaciones realizadas a partir de los datos de textura, humedad retenida y valores publicados eran entre un 50-90 por ciento mayores que el valor calibrado en el ensayo de campo. Así, la estimación del valor de la porosidad efectiva para el transporte químico depende mucho del modelo de transporte seleccionado y es mejor si se obtiene a partir de ensayos de laboratorio o de campo.

PubMed

Beas, Renato; Anduaga-Beramendi, Alexander; Maticorena-Quevedo, Jesus; Mayta-Tristán, Percy

2018-03-26

Objetivo: Identificar los factores asociados al Síndrome de Burnout (SB) en trabajadores de salud del Perú en el año 2014.Métodos: Estudio transversal analítico mediante un análisis secundario de la Encuesta Nacional de Usuarios de Salud del año 2014 en Perú. El SB fue medido mediante el Maslach Burnout Inventory - Human Services Survey (MBI-HSS). Se realizó un análisis descriptivo, también un análisis bivariado y multivariado calculando los valores de p y los OR crudos y ajustados mediante Regresión Logística.Resultados: La prevalencia del SB en los profesionales de la salud fue 2,8%, encontrándose asociadas las variables: género, tiempo en el sector salud, horas de trabajo e ingreso mensual total.Conclusiones: Se encontró que los factores asociados al SB en el personal de Perú en el año 2014 fueron el género, el tiempo en el sector salud, las horas de trabajo y el ingreso mensual total.

[Competence in biocentric ethics.

PubMed

Stepke, Fernando Lolas

2012-07-01

ResumenEste artículo explora el origen y la conceptualización de la bioética en tanto ética biocéntrica, definida por el pionero Fritz Jahr como un imperativo hipotético que llama a respetar la vida en todas sus formas. Tras describirla como proceso social, procedimiento técnico y producto académico, se enumeran y comentan algunas competencias que debieran presidir el empleo del discurso bioético en cualquier punto del complejo social "investigación médica": miembros de comités de ética de investigación, investigadores, empresarios, administradores. Cada uno de estos grupos, en su "cultura epistémica" propia, define y explicita los principios básicos en tanto expresión de valores y leyes generales.

Uso Del Condón en Adolescentes Nahuas, un Modelo Explicativo.

PubMed

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.

Physiological adaptation of maternal plasma volume during pregnancy: a systematic review and meta-analysis.

PubMed

de Haas, S; Ghossein-Doha, C; van Kuijk, S M J; van Drongelen, J; Spaanderman, M E A

2017-02-01

To describe the physiological pattern of gestational plasma volume adjustments in normal singleton pregnancy and compare this with the pattern in pregnancies complicated by pregnancy-induced hypertension, pre-eclampsia or fetal growth restriction. We performed a meta-analysis of the current literature on plasma volume adjustments during physiological and complicated pregnancies. Literature was retrieved from PubMed (NCBI) and EMBASE (Ovid) databases. Included studies reported both reference plasma volume measurements (non-pregnant, prepregnancy or postpartum) and measurements obtained during predetermined gestational ages. Mean differences bet ween the reference and pregnancy plasma volume measurements were calculated for predefined intervals of gestational age using a random-effects model described by DerSimonian and Laird. Thirty studies were included in the meta-analysis with publication dates ranging from 1934 to 2007. Plasma volume increased in the first weeks of pregnancy, with the steepest increase occurring during the second trimester. Plasma volume continued to increase in the third trimester with a pooled maximum increase of 1.13 L (95% CI, 1.07-1.19 L), an increase of 45.6% (95% CI, 43.0-48.1%) in physiological pregnancies compared with the reference value. The plasma volume expansion in gestational hypertensive and growth-restricted pregnancies was 0.80 L (95% CI, 0.59-1.02 L), an increase of 32.3% (95% CI, 23.6-41.1%) in the third trimester, a smaller increase than in physiological pregnancies (P < 0.0001). During physiological pregnancy, plasma volume increases by, on average, more than 1 L as compared with non-pregnant conditions. In pregnancies complicated by pregnancy-induced hypertension, pre-eclampsia or fetal growth restriction, plasma volume increase in the third trimester is 13.3% lower than in normal pregnancy. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. Adaptación fisiológica del volumen del plasma materno durante el embarazo: una revisi\\xF3n sistemática y metaanálisis RESUMEN OBJETIVO: Describir el patrón fisiológico de los cambios en el volumen del plasma gestacional en embarazos normales con feto único y compararlo con el patrón en los embarazos complicados por hipertensión gestacional, preeclampsia o restricción del crecimiento fetal. MÉTODOS: Se realizó un metaanálisis de la literatura actual sobre los cambios en el volumen de plasma durante embarazos complicados y fisiológicos. La literatura se obtuvo de las bases de datos PubMed (NCBI) y EMBASE (Ovid). Los estudios incluidos mencionaban tanto mediciones de referencia del volumen plasmático (no embarazada, antes del embarazo o después del parto) como mediciones tomadas a edades gestacionales predeterminadas. Se calcularon las medias de las diferencias entre las mediciones de referencia y las del embarazo para el volumen plasmático a intervalos predefinidos de la edad gestacional, utilizando un modelo de efectos aleatorios descrito por DerSimonian y Laird. En el metaanálisis se incluyeron treinta estudios con fechas de publicación entre 1934 y 2007. El volumen plasmático aumentó en las primeras semanas de embarazo y el mayor incremento se produjo durante el segundo trimestre. El volumen de plasma continuó aumentando en el tercer trimestre con un aumento combinado máximo de 1,13L (IC 95%, 1,7-1,19 L), lo que supone un aumento del 45,6% (IC 95%, 43,0-48,1%) en embarazos fisiológicas en comparación con el valor de referencia. El aumento del volumen plasmático en los embarazos con hipertensión y con crecimiento intrauterino restringido fue de 0,80L (IC 95%, 0,59-1,02 L), lo que supone un aumento del 32,3% (IC 95%, 23,6-41,1%) en el tercer trimestre, y un incremento menor que en los embarazos fisiológicos (P <0,0001). Durante el embarazo fisiológico el volumen de plasma aumenta, en promedio, más de 1L, en comparación con el de las no embarazadas. En los embarazos complicados por hipertensión gestacional, preeclampsia o restricción del crecimiento fetal, el aumento del volumen plasmático en el tercer trimestre es un 13,3% menor que en el embarazo normal. :meta : ,、。 : meta。PubMed(NCBI)EMBASE(Ovid)。(、)。DerSimonianLaird,。 : Meta30,19342007。,。,1.13 L(95% CI,1.07~1.19 L),,45.6%(95% CI,43.0%~48.1%)。0.80 L(95%CI,0.59~1.02 L),32.3%(95% CI,23.6%~41.1%),(P<0.0001)。 : ,,1 L。、,13.3%。. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

[Not Available].

PubMed

De Arriba Muñoz, Antonio; López Úbeda, Marta; Rueda Caballero, Carmen; Labarta Aizpún, José Ignacio; Ferrández Longás, Ángel

2016-07-19

Introducción: saber diagnosticar y tratar la obesidad se ha convertido en el mayor reto del siglo XXI, debido al aumento de su prevalencia.Objetivos: determinar los valores de normalidad de perímetro abdominal (PA) e índice de masa corporal (IMC) según edad y sexo en población española sana.Métodos: estudio longitudinal observacional realizado entre 1980 y 2014. Se incluyeron 165 niños y 169 niñas recién nacidas, recogiendo datos de forma anual hasta los 18 años (74 varones y 92 mujeres), y posteriormente a los 28 años (42 varones y 45 mujeres). Se realizó medición de peso, longitud/talla y perímetro abdominal. Se calcularon los percentiles (P3, P10, P25, P50, P75, P90, P97) de IMC y PA según edad y sexo.Resultados: se presentan datos evolutivos de IMC y PA durante la infancia, destacando cómo aumentan los valores entre los 18 y 28 años de los percentiles superiores al p50, sobre todo en mujeres. Existe una correlación positiva en relación al PA entre el valor obtenido a los 3 años con el valor de los 18 años y de los 28 años tanto en varones (r = 0,722 y r = 0,605, p = 0,000, respectivamente) como en mujeres(r = 0,922, r = 0,857, p = 0,000, respectivamente). Y entre los 18 y 28 años (r = 0,731, p = 0,000 para varones y r = 0,961, p = 0,000 para mujeres).Conclusión: se presentan valores de normalidad de PA e IMC según edad y sexo, que podrán utilizarse como herramienta de referencia para identificar a personas con riesgo de desarrollar enfermedades cardiovasculares o diabetes.

[Not Available].

PubMed

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.

?`Es necesario calcular detalladamente funciones de partición atómicas?

NASA Astrophysics Data System (ADS)

Milone, L. A.; Merlo, D. C.

Basándonos en extensos y precisos cómputos de funciones de partición realizados por nosotros para distintos átomos, se muestra que en el cálculo u obtención de ciertas magnitudes (notablemente la presión electrónica, la abundancia de un elemento deducida a partir de un estado fuertemente ionizado, etc.) el error porcentual que se comete es pequeño (inferior a 1 %) si se adopta, como valor de la función de partición, el peso estadístico del término correspondiente al estado fundamental del átomo. Esta notable simplificación acelera el cálculo, por ejemplo, de un modelo de atmósfera estelar, sin disminuir la precisión de los resultados.

Competencias en ética biocéntrica

PubMed Central

Stepke, Fernando Lolas

2013-01-01

Resumen Este artículo explora el origen y la conceptualización de la bioética en tanto ética biocéntrica, definida por el pionero Fritz Jahr como un imperativo hipotético que llama a respetar la vida en todas sus formas. Tras describirla como proceso social, procedimiento técnico y producto académico, se enumeran y comentan algunas competencias que debieran presidir el empleo del discurso bioético en cualquier punto del complejo social “investigación médica”: miembros de comités de ética de investigación, investigadores, empresarios, administradores. Cada uno de estos grupos, en su “cultura epistémica” propia, define y explicita los principios básicos en tanto expresión de valores y leyes generales. PMID:23459767

Newborns' temperature submitted to radiant heat and to the Top Maternal device at birth.

PubMed

Albuquerque, Rosemeire Sartori de; Mariani, Corintio; Bersusa, Ana Aparecida Sanches; Dias, Vanessa Macedo; Silva, Maria Izabel Mota da

2016-08-08

to compare the axillar temperatures of newborns that are put immediately after birth in skin-to-skin contact under the Top Maternal device, as compared to those in a radiant heat crib. comparatives observational study of the case-control type about temperature of 60 babies born at the Obstetric Center and Normal Delivery Center of a public hospital of the municipality of Sao Paulo, being them: 29 receiving assistance in heated crib and 31 in skin-to skin contact, shielded by a cotton tissue placed on mother's thorax, called Top Maternal. the temperature of the babies of the skin-to-skin contact group presented higher values in a larger share of the time measures verified, as compared to those that were placed in radiant heat crib, independently from the place of birth. Differences between the two groups were not statistically significant. the study contributes to generate new knowledge, supporting the idea of keeping babies with their mothers immediately after birth protected with the Maternal Top, without harming their wellbeing, as it keeps the axillar temperature in recommendable levels. comparar a temperatura axilar dos recém-nascidos acomodados - imediatamente após o nascimento - em contato pele a pele, sob o Top Maternal, em berço de calor radiante. estudo comparativo observacional do tipo Caso-Controle sobre a temperatura de 60 bebês nascidos no Centro Obstétrico e Centro de Parto Normal de um hospital público do município de São Paulo, sendo: 29 assistidos em berço aquecido e 31 em contato pele a pele, protegidos por uma malha de algodão colocada sobre o tórax da mãe, denominada Top Maternal. a temperatura dos bebês do grupo de contato pele a pele teve maior valor na maioria dos tempos verificados comparada à dos que foram colocados em berço de calor radiante, independentemente do local de nascimento. A diferença entre os grupos não foi estatisticamente significante. o estudo contribui com a geração de um novo conhecimento que sustenta a manutenção dos bebês com suas mães imediatamente após o nascimento por meio do contato pele a pele protegidos pelo Top Maternal, sem prejuízos ao seu bem-estar, uma vez que a temperatura axilar se manteve em níveis recomendáveis. comparar la temperatura axilar de los recién nacidos (Rn) acomodados, inmediatamente después del nacimiento, en contacto piel con piel, bajo el Top Maternal, en cuna de calor radiante. estudio comparativo observacional del tipo Caso Control sobre la temperatura de 60 bebés nacidos en el Centro Obstétrico y Centro de Parto Normal de un hospital público del municipio de Sao Paulo, siendo: 29 asistidos en cuna calentada y 31 en contacto piel con piel, protegidos por un tejido de algodón colocado sobre el tórax de la madre, denominado Top Maternal. la temperatura de los bebés del grupo de contacto piel con piel fue más alta en la mayoría de los tiempos verificados, ello comparado con los que fueron colocados en cuna de calor radiante, independientemente del local de nacimiento. La diferencia entre los grupos no fue estadísticamente significativa. el estudio contribuye con la generación de un nuevo conocimiento que sustenta que se debe mantener a los bebés con sus madres inmediatamente después del nacimiento por medio del contacto piel con piel protegidos por el Top Maternal, sin perjuicios a su bienestar, una vez que la temperatura axilar se mantuvo en niveles recomendables.

Delayed fertilization of anuran amphibian (Xenopus) eggs leads to reduced numbers of primordial germ cells

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.

Un asteroide proveniente de la Luna

NASA Astrophysics Data System (ADS)

Tancredi, G.

El descubrimiento de un débil objeto en movimiento por el telescopio Spacewatch (un instrumento dedicado a la búsqueda de Asteroides Cercanos a la Tierra) en 1991, ha generado una gran controversia en la comunidad planetaria. El objeto, denominado 1991 VG, tiene elementos orbitales llamativamente similares a los de la Tierra, lo que ha llevado a B. G. Marsden a aventurar:``El objeto podría ser una nave espacial en retorno (IAUC 5387)". Luego de analizar las características dinámicas de 1991 VG y las diferentes hipótesis sobre su origen, favorecemos la alternativa de que el objeto es un gran fragmento de material eyectado de la Luna durante un reciente impacto (en las últimas decenas de miles de años). El hallazgo en 1983 en la Antártida de meteoritos con composición tipo lunar, confirma la posibilidad de que material de la superficie del satélite puede ser eyectado a velocidades superiores a la de escape del sistema Tierra-Luna y alcance órbitas heliocéntricas. Los elementos orbitales de 1991 VG corresponden a los valores alcanzados por partículas que apenas escapan de la gravedad lunar y entran en órbitas heliocéntricas a través del punto Lagrangiano exterior del sistema Tierra-Sol.

Ajuste de parámetros libres en teorías de campos camaleones a partir de espectros de nubes moleculares galácticas y experimentos terrestres

NASA Astrophysics Data System (ADS)

Teppa Pannia, F. A.; Landau, S. J.

Resultados recientes, basados en el análisis de espectros moleculares de nubes galácticas a través del método del amoníaco, han arrojado nuevos límites sobre la variación del parámetro adimensional μ=m_e /m_p. Los resultados indican Δ μ/μ = (μ_{obs}-μ_{lab})/μ_{lab}= (2.2± 0.4_{est} ±0.3_{sist}) times 10 ^{-8}, en acuerdo con una variación no nula de dicha cantidad (Levshakov et al. 2010). En este trabajo, motivado por los datos astronómicos, estudiamos la solución lineal del modelo teórico fenomenológico de campo escalar camaleón, presentado por Mota y Shaw (2007), que predice variaciones en μ. Con el fin de cotejar estas predicciones con los resultados observacionales, utilizamos datos de experimentos terrestres que testean violaciones al Principio de Equivalencia para analizar el valor de los parámetros libres presentes en el modelo. El trabajo realizado muestra que la solución estudiada no se puede ajustar a los datos experimentales, sugiriendo que el modelo lineal debe ser descartado para explicar las observaciones astronómicas. FULL TEXT IN SPANISH

PubMed

Bueno Vargas, Pilar; Manzano Martín, Manuel; López-Aliaga, Inmaculada; López Pedrosa, José M ª

2016-09-20

Introducción: la gestación y lactancia están relacionadas con pérdidas temporales en la densidad mineral ósea (DMO) materna. Una suplementación con calcio podría resultar beneficiosa para evitar la pérdida de masa ósea del esqueleto materno. Otros nutrientes como los prebióticos han sido identificados como responsables de un incremento en la absorción de minerales, pudiendo condicionar la mineralización ósea.Objetivo: estudiar el efecto de la suplementación de la dieta materna con el prebiótico inulina enriquecida con oligofructosa, durante la gestación y la lactancia sobre el contenido mineral óseo (CMO) y la DMO al final del periodo de lactancia.Métodos: las ratas gestantes fueron alimentadas con dieta estándar (grupo CC), dieta fortificada en calcio (grupo Ca) o enriquecida con el prebiótico inulina enriquecida con oligofructosa (grupo Pre) hasta el final del periodo de lactancia. Posteriormente se evaluó el CMO y DMO por absorciometría de rayos X (DEXA) y el pH del contenido cecal.Resultados:en términos generales, el grupo Pre presenta los mayores valores absolutos de CMO y DMO de entre los tres grupos, siendo en la tibia significativamente diferentes en los grupos CC y Pre frente al grupo Ca. El pH del contenido cecal del grupo Pre es significativamente inferior al de los grupos CC y Ca.Conclusión:la suplementación con inulina enriquecida con oligofructosa, en condiciones nutricionales no deficientes en calcio, durante la gestación y la lactancia, ejerce una protección del esqueleto materno en las ratas y puede ser considerada como una estrategia nutricional para proteger la masa ósea materna en el periodo perinatal.

Bio-refinery approach for spent coffee grounds valorization.

PubMed

Mata, Teresa M; Martins, António A; Caetano, Nídia S

2018-01-01

Although normally seen as a problem, current policies and strategic plans concur that if adequately managed, waste can be a source of the most interesting and valuable products, among which metals, oils and fats, lignin, cellulose and hemicelluloses, tannins, antioxidants, caffeine, polyphenols, pigments, flavonoids, through recycling, compound recovery or energy valorization, following the waste hierarchy. Besides contributing to more sustainable and circular economies, those products also have high commercial value when compared to the ones obtained by currently used waste treatment methods. In this paper, it is shown how the bio-refinery framework can be used to obtain high value products from organic waste. With spent coffee grounds as a case study, a sequential process is used to obtain first the most valuable, and then other products, allowing proper valorization of residues and increased sustainability of the whole process. Challenges facing full development and implementation of waste based bio-refineries are highlighted. Copyright © 2017 Elsevier Ltd. All rights reserved.

Estudio de la fotoabsorción y fotoionización de la molécula de alta relevancia atmosférica no a través de los estados Rydberg con la metodología MQDO

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].

DISYUNTIVAS EN LAS CONCEPCIONES SOBRE AUTONOMÍA Y BENEFICENCIA QUE AFECTAN LA TERAPÉUTICA DEL INTENTO SUICIDA1

PubMed Central

Mondragón, Liliana; Monroy, Zuraya; Ito, Ma. Emily; Medina-Mora, Dra. Ma. Elena

2010-01-01

El objetivo del trabajo es conocer las disyuntivas entre los principios de beneficencia y autonomía, que se presentan en la relación médico-paciente, durante la terapéutica del intento de suicidio. La investigación se realizó en dos hospitales psiquiátricos de la Ciudad de México. La muestra incluyó a tres sujetos con intento de suicidio, mayores de 18 años, que eran atendidos en consulta externa a causa de una lesión autoinfligida en el último año, y a tres psiquiatras que trataban a estos pacientes. La información se obtuvo previo consentimiento informado en entrevistas individuales. Se llevó a cabo un análisis de discurso argumentado para encontrar los significados que los participantes otorgaron a los principios bioéticos y las posibles disyuntivas entre éstos. Las discordancias entre la beneficencia y la autonomía estuvieron relacionadas con el beneficio del tratamiento, el respeto por los valores y las creencias de los pacientes, entre otros. Este trabajo presenta consideraciones éticas relevantes en el escenario clínico, al ofrecer al psiquiatra un análisis bioético que le permita actuar de acuerdo con la beneficencia y respetando la autonomía del paciente frente a casos de intento de suicidio y, de esta forma procurar una mejor atención para ellos. PMID:20830214

DISYUNTIVAS EN LAS CONCEPCIONES SOBRE AUTONOMÍA Y BENEFICENCIA QUE AFECTAN LA TERAPÉUTICA DEL INTENTO SUICIDA.

PubMed

Mondragón, Liliana; Monroy, Zuraya; Ito, Ma Emily; Medina-Mora, Dra Ma Elena

2010-06-01

El objetivo del trabajo es conocer las disyuntivas entre los principios de beneficencia y autonomía, que se presentan en la relación médico-paciente, durante la terapéutica del intento de suicidio.La investigación se realizó en dos hospitales psiquiátricos de la Ciudad de México. La muestra incluyó a tres sujetos con intento de suicidio, mayores de 18 años, que eran atendidos en consulta externa a causa de una lesión autoinfligida en el último año, y a tres psiquiatras que trataban a estos pacientes. La información se obtuvo previo consentimiento informado en entrevistas individuales. Se llevó a cabo un análisis de discurso argumentado para encontrar los significados que los participantes otorgaron a los principios bioéticos y las posibles disyuntivas entre éstos.Las discordancias entre la beneficencia y la autonomía estuvieron relacionadas con el beneficio del tratamiento, el respeto por los valores y las creencias de los pacientes, entre otros. Este trabajo presenta consideraciones éticas relevantes en el escenario clínico, al ofrecer al psiquiatra un análisis bioético que le permita actuar de acuerdo con la beneficencia y respetando la autonomía del paciente frente a casos de intento de suicidio y, de esta forma procurar una mejor atención para ellos.

Efectos Especiales de Anclaje (Estudio sobre Regresiones de Juicios Condicionales). Parte 2: Invariancia del Juicio No-Condicional Como Valor Estandar Para el Juicio Condicional (Special Effects of Anchoring (Study of Regression of Conditional Judgements) Part 2: Invariance of Unconditional Judgments as Standard Value for the Conditional Judgment). Publication No. 31.

ERIC Educational Resources Information Center

Lopez Alonso, A. O.

From the best-fit lines corresponding to sets of families of conditional judgements, the constant stimulus family and the constant condition family, both defined for a same scale object, the coordinate values of the point of intersection of both lines (indifference point) are obtained. These values are studied in relation to the mean values of the…

Accuracy of a pediatric early warning score in the recognition of clinical deterioration.

PubMed

Miranda, Juliana de Oliveira Freitas; Camargo, Climene Laura de; Nascimento, Carlito Lopes; Portela, Daniel Sales; Monaghan, Alan

2017-07-10

to evaluate the accuracy of the version of the Brighton Pediatric Early Warning Score translated and adapted for the Brazilian context, in the recognition of clinical deterioration. a diagnostic test study to measure the accuracy of the Brighton Pediatric Early Warning Score for the Brazilian context, in relation to a reference standard. The sample consisted of 271 children, aged 0 to 10 years, blindly evaluated by a nurse and a physician, specialists in pediatrics, with interval of 5 to 10 minutes between the evaluations, for the application of the Brighton Pediatric Early Warning Score for the Brazilian context and of the reference standard. The data were processed and analyzed using the Statistical Package for the Social Sciences and VassarStats.net programs. The performance of the Brighton Pediatric Early Warning Score for the Brazilian context was evaluated through the indicators of sensitivity, specificity, predictive values, area under the ROC curve, likelihood ratios and post-test probability. the Brighton Pediatric Early Warning Score for the Brazilian context showed sensitivity of 73.9%, specificity of 95.5%, positive predictive value of 73.3%, negative predictive value of 94.7%, area under Receiver Operating Characteristic Curve of 91.9% and the positive post-test probability was 80%. the Brighton Pediatric Early Warning Score for the Brazilian context, presented good performance, considered valid for the recognition of clinical deterioration warning signs of the children studied. avaliar a acurácia da versão traduzida e adaptada do Brighton Paediatric Early Warning Score para o contexto brasileiro, no reconhecimento da deterioração clínica. estudo de teste diagnóstico para medir a acurácia do Brighton Paediatric Early Warning Score, para o contexto brasileiro, em relação a um padrão de referência. A amostra foi composta por 271 crianças de 0 a 10 anos, avaliadas de forma cega por uma enfermeira e um médico, especialistas em pediatria, com intervalo de 5 a 10 minutos entre as avaliações, para aplicação do Brighton Paediatric Early Warning Score, para o contexto brasileiro e do padrão de referência. Os dados foram processados e analisados nos programas Statistical Package for the Social Sciences e VassarStats.net. O desempenho do Brighton Paediatric Early Warning Score para o contexto brasileiro foi avaliado por meio dos indicadores de sensibilidade, especificidade, valores preditivos, área sob a curva ROC, razões de probabilidades e probabilidade pós-teste. o Brighton Paediatric Early Warning Score para o contexto brasileiro apresentou sensibilidade de 73,9%, especificidade de 95,5%, valor preditivo positivo de 73,3%, valor preditivo negativo de 94,7%, área sob a Receiver Operating Characteristic Curve de 91,9% e a probabilidade pós-teste positivo foi de 80%. o Brighton Paediatric Early Warning Score, para o contexto brasileiro, apresentou bom desempenho, considerado válido para o reconhecimento de sinais de alerta de deterioração clínica das crianças estudadas. evaluar la precisión de la versión traducida y adaptada del Brighton Paediatric Early Warning Score para el contexto brasileño, en el reconocimiento de la deterioración clínica. estudio de test diagnóstico para medir la precisión del Brighton Paediatric Early Warning Score para el contexto brasileño, en relación a un estándar de referencia. La muestra estuvo compuesta por 271 niños de 0 a 10 años, evaluadas de forma ciega por especialistas en pediatría, una enfermera y un médico, con intervalo de 5 a 10 minutos entre las evaluaciones, para aplicación del Brighton Paediatric Early Warning Score para el contexto brasileño. Los datos fueron procesados y analizados en los programas Statistical Package for the Social Sciences y VassarStats.net. El desempeño del Brighton Paediatric Early Warning Score para el contexto brasileño fue evaluado por medio de los indicadores de sensibilidad, especificidad, valores predictivos, área debajo de la curva ROC, razones de probabilidades y probabilidad postest. el Brighton Paediatric Early Warning Score para el contexto brasileño presentó sensibilidad de 73,9%, especificidad de 95,5%, valor predictivo positivo de 73,3%, valor predictivo negativo de 94,7%, área bajo la Receiver Operating Characteristic Curve de 91,9% y la probabilidad postest positivo fue de 80%. el Brighton Paediatric Early Warning Score para el contexto brasileño, presentó buen desempeño, considerado válido para el reconocimiento de señales de alerta de deterioración clínica de los niños estudiados.

Four SNPs and Systemic Level of FOXP3 in Smokers and Patients with Chronic Obstructive Pulmonary Disease.

PubMed

Chu, Shuyuan; Zhong, Xiaoning; Zhang, Jianquan; Lai, Xiaoying; Xie, Jiajun; Li, Yu

2016-12-01

Forkhead box P3 (FOXP3) is the essential transcription factor for the function of regulatory T-cell (Treg). However, the gene mutation of FOXP3 in patients with chronic obstructive pulmonary disease (COPD) at different stages has not been reported. We aim to investigate four single nucleotide polymorphisms (SNPs) and the mRNA expression of FOXP3 in smokers with normal lung function and smokers with COPD at different stages. FOXP3 mRNA expression and SNPs in FOXP3 were assessed in nonsmokers with normal lung function (N), smokers with normal lung function (S), smokers with COPD in the Global Initiative for Chronic Obstructive Lung Disease (GOLD) 1 or 2 grade (COPD 1-2), and smokers with COPD in GOLD 3 or 4 grade (COPD 3-4). In peripheral blood sample, FOXP3 mRNA was assessed using real-time quantitative PCR and SNPs were analyzed by TaqMan PCR. FOXP3 mRNA level in peripheral blood sample was decreased when COPD was aggravated. The frequency of FOXP3 rs5902434 genotype del/del and allele del are lower in COPD 1-2 and COPD 3-4 than that in N or S. The rs5902434 genotype del/del and allele del were, respectively, associated with decreased risk of COPD and lung function decline. The rs5902434 genotypic distribution was correlated with FOXP3 mRNA level. In conclusion, both FOXP3 rs5902434 genotypes and alleles were differently distributed in COPD patients and smokers with normal lung function. The distribution of del/del genotype was associated with systemic expression of FOXP3 mRNA. More research is needed to explore the role of FOXP3 gene polymorphism in immunoinflammation of COPD.

Comparación de la efectividad de ranibizumab intravítreo para el tratamiento del edema macular diabético en ojos vitrectomizados y no vitrectomizados.

PubMed

Koyanagi, Yoshito; Yoshida, Shigeo; Kobayashi, Yoshiyuki; Kubo, Yuki; Yamaguchi, Muneo; Nakama, Takahito; Nakao, Shintaro; Ikeda, Yasuhiro; Ohshima, Yuji; Ishibashi, Tatsuro; Sonoda, Kohhei

2017-07-11

Objetivo: Comparar la efectividad de ranibizumab intravítreo (RIV) para el tratamiento del edema macular diabético (EMD) en ojos con y sin vitrectomía previa. Procedimientos: Evaluamos de manera prospectiva la mejor agudeza visual corregida (MAVC) y el grosor macular central (GMC) tras el tratamiento con RIV durante 6 meses. Resultados: No se observaron diferencias significativas en la MAVC o GMC inicial en ninguno de los dos grupos. En el grupo no vitrectomizado (n = 15), los cambios medios en la MAVC y GMC hasta el sexto mes de tratamiento con respecto al valor inicial resultaron significativos (p < 0,01). En el grupo vitrectomizado (n = 10), se observó una mejora más lenta, y la mejora media en la MAVC no resultó significativa (p = 0,5), aunque la media en la disminución del GMC sí que lo fue (p < 0,05). No se observaron diferencias significativas en los cambios medios en la MAVC y el GMC entre ambos grupos a los 6 meses del tratamiento. Conclusiones: La diferencia en la efectividad de RIV entre ambos grupos no resultó significativa. Ranibizumab intravítreo puede ser una opción de tratamiento incluso en pacientes vitrectomizados con EMD. © 2017 S. Karger AG, Basel.

[In Process Citation].

PubMed

López-Fuenzalida, Antonio; Rodríguez Canales, Carolina; Reyes Ponce, Álvaro; Contreras Molina, Ángela; Fernández Quezada, Javiera; Aguirre Polanco, Carolina

2016-03-25

Introducción: dado el incremento del sobrepeso y obesidad infantil, es relevante estudiar no solo las consecuencias metabólicas, sino también aquellas de índole musculoesqueléticas que pueden afectar la funcionalidad motriz, como es el pie plano, en esta población. Objetivo: identificar la asociación entre el estado nutricional y la prevalencia de pie plano en niños y niñas chilenos de 6 a 10 años. Métodos: el z-score del índice de masa corporal (IMC) y el registro y análisis de las huellas plantares según la metodología de Hernández-Corvo fue llevado a cabo en 388 escolares (52,3% niñas). Un test de diferencia para dos proporciones fue utilizado para evaluar las diferencias entre los grupos. Se considera una significancia estadística con p ≤ 0,05. Resultados: la prevalencia del exceso de peso fue de más del 40%. Esta prevalencia fue más alta en las niñas (47,8%) que en los niños (42,7%). La prevalencia de pie plano en todos los niños fue del 17%, presentando valores más elevados el pie derecho (18,3%) que el izquierdo (15,7%). Hay un incremento significativo de la prevalencia de pie plano en los niños obesos en relación con los niños con sobrepeso y normopeso. Conclusión: el estado nutricional está asociado con incrementos en la prevalencia de pie plano en niños. En la población infantil de 6 a 10 años de edad, la obesidad está asociada con la alteración morfológica del pie.

Estimación de pequeñas perturbaciones en satélites geocéntricos como un problema inverso

NASA Astrophysics Data System (ADS)

Zadunaisky, P. E.

El movimiento geocéntrico de un satélite artificial es simulado automáticamente por un sistema de ecuaciones diferenciales de segundo orden que incluyen dos funciones perturbadoras. La primera representa el segundo término del potencial gravitatorio de la Tierra y la segunda corresponde al frenado atmosférico. Asumiendo como conocidas, por hipótesis o por mediciones, la posición y velocidad del satélite en instantes sucesivos se estiman las perturbaciones a intervalos sucesivos por un método determinístico. Para ilustrar el método y comprobar la precisión de nuestros resultados hemos simulado dos ejemplos incluyendo valores conocidos de las perturbaciones que luego comparamos con los resultados de nuestro método. El método puede aplicarse por ejemplo para el intervalo de una revolución satelital lo cual permitiría el diseño inmediato de una maniobra correctiva de la órbita satelital.

Adaptación al español y validación de criterio de una escala para la tamización de problemas emocionales y del comportamiento en la primera infancia.

PubMed

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.

DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q).

PubMed

Bamforth, J S; Lin, C C

1997-12-31

DK phocomelia (von Voss-Cherstvoy syndrome) is a rare condition characterized by radial ray defects, occipital encephalocoele, and urogenital abnormalities. Lubinsky et al. [1994: Am J Med Genet 52:272-278] pointed out similarities between this and the del(13q) syndrome. To date, all reported cases of DK phocomelia have been apparently normal chromosomally. We report on a case of DK phocomelia in which the proposita had normal lymphocyte chromosomes, but was mosaic in fibroblasts for del(13)(q12). Fibroblast chromosomes studies on other cases of DK phocomelia have not been reported: this raises the possibility that some cases of DK phocomelia may be somatic mosaics for del(13)(q12).

Variaciones seculares de período en las RR Lyrae de ω~Centauri

NASA Astrophysics Data System (ADS)

Marraco, H. G.; Milesi, G. E.

Utilizando 689 observaciones de 35 estrellas RR Lyrae del cúmulo globular ω Centauri hemos obtenido nuevas determinaciones de sus períodos y sus correspondientes variaciones seculares. Las observaciones fueron obtenidas de la literatura con la excepción de un grupo 66 determinaciones que se presentan por vez primera aquí. Utilizando el parámetro testigo σ descripto en Marraco & Muzzio (Publ. Astron. Soc. Pacific 92, 700, 1980), hemos realizado un ajuste bidimensional en P y β (donde β es la variación secular del período). Con este fin la totalidad de las 689 observaciones fueron llevadas a un sistema fotométrico común. Para esto se realizó un cuidadoso análisis de los numerosos errores en la identificación de las estrellas de las series de comparación. Los resultados de los ajustes bidimensionales fueron analizados utilizando técnicas de procesamiento de imágenes. Con este fin el parámetro de ajuste σ fue representado como función de P y β. En las imágenes resultantes se buscaron los mínimos y al menor de ellos se lo aceptó como período instantáneo verdadero y su variación secular β. La determinación precisa de cada parámetro se realizó mediante ajuste de gaussianas y se determinaron sus errores. A modo de ejemplo la variable #8 fue analizada en una matriz de 501 × 501 elementos representando el parámetro σ para valores comprendidos entre 0,521034 < P < 0,521534 dias y -150×10-10 < β < +150×10-10 dias/dia. El mejor período instantáneo (correspondiente a la época DJ=2.426.908) y su variación secular son P = 0,5212859±0,0000001 días y β 14,012±,010×10-10 días/día respectivamente. Con estos valores el parámetro testigo resulta σ= 0,127 . Si no se tiene en cuenta la variación secular del período y se busca aquél de mejor ajuste para β = 0, se obtiene P = 0,5212960 días, pero entonces el parámetro de ajuste resulta tan alto como σ = 0,23 .

Attenuation of Ultraviolet Radiation by Dust in Interstellar Clouds

NASA Astrophysics Data System (ADS)

Escalante, V.

1994-07-01

Se han obtenido soluciones de la ecuación de transporte para la dispersión coherente, no conservativa y anisotrópica para estimar la precisión de métodos aproximados, usados en modelos de nubes en que la luz es atenuada principalmente por el polvo. En los cálculos se ha aplicado el metodo de armónicos esféricos para distintos parámetros del polvo. Se ha explorado la posibilidad de descubrir cambios en las caracterísiticas del polvo mediante observaciones de regiones fotodisociadas. Se muestra que para altos valores del albedo de dispersión simple y del parametro de asimetria de Ia función de fase que son adecuados para el polvo galáctico, no es posible determinar variaciones de más de un factor de 2 en el cociente de gas a polvo. Solutions to the transfer equation for coherent, non-conservative, anisotropic scattering have been obtained in order to estimate the accuracy of approximate methods used in models of clouds where light is attenuated mostly by dust. In the calculations the spherical harmonic method has been applied for different grain parameters. The possibility of discovering changes of dust characteristics through observations of photodissociation regions has been considered. It is shown that for the high values of the single scattering albedo and the asymmetry parameter of the phase function for redistribution that appear to be appropriate for galactic dust, it is not possible to determine variations of more than a factor of 2 in the gas to dust ratio.

Desarrollo de un instrumento para medir percepciones sobre el contexto de construccion del conocimiento cientifico de estudiantes universitarios de nuevo ingreso

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.

Puerto Rico, humedales [Puerto Rico, wetlands

USGS Publications Warehouse

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).

CHEK2*1100delC Variant and BRCA1/2-Negative Familial Breast Cancer - A Family-Based Genetic Association Study

DTIC Science & Technology

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

Estructura espacial de las órbitas caóticas en un modelo autoconsistente de galaxia elíptica

NASA Astrophysics Data System (ADS)

Muzzio, J. C.

Hemos logrado construir modelos autoconsistentes de sistemas estelares utilizando una aproximación cuadrupolar para el potencial. Esto nos permite determinar órbitas y exponentes de Lyapunov de objetos que tienen posiciones y velocidades equivalentes a las que se obtienen de la funcón de distribución del sistema. La distribución espacial de las órbitas caóticas exhibe considerable estructura y, lo que es más importante aún, los valores de los exponentes de Lyapunov calculados sobre intervalos finitos de tiempo, muestran una fuerte correlación con el comportamiento de la órbita en esos mismos intervalos, por lo que permiten reconocer distintos subsistemas con diferentes distribuciones espaciales.

SnoRNA Snord116 (Pwcr1/MBII-85) Deletion Causes Growth Deficiency and Hyperphagia in Mice

PubMed Central

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

PubMed

López, Ana Cristina; Cecchetto, Eugenio; Aguirre, Ana Noemí; Ontiveros, Marina Celeste; Roitter, Claudia Valentina; Garcia, Adelaida Judith; Bernet, Jorgelina; Aguirre, Jorge Alberto

2018-03-23

El objetivo del estudio fue describir características clínicas, sociodemográficas y hábitos en adultos con diabetes mellitus y estudiar su asociación con la calidad de vida relacionada con la salud. Se seleccionó una muestra de 311 pacientes del Programa de Diabetes de una obra social universitaria, de la provincia de Córdoba. Se analizaron los datos a como proporciones y los componentes físico y mental del cuestionario SF-36® . El 57,4% alcanzó un nivel de instrucción terciario o universitario. La hipertensión arterial fue el factor de riesgo cardiovascular más prevalente (86,8%), seguida por dislipemia (50,6%) y obesidad (46,5%). El 24,8% tenía complicación macrovascular y el 29% microvascular. En el componente físico (CF) de calidad de vida las mujeres tuvieron una chance 4,2 veces mayor de reportar un valor inferior en relación a los varones. Entre los 50 y los 70 años se triplicó y los mayores de  70 años tuvieron 4 veces peor una puntuación en el CF respecto a los más jóvenes. Las complicaciones macro y microvasculares y los que reportaron menos de 2 hábitos de vida saludables tuvieron el doble de chances de puntuar por debajo del promedio general en el CF. La asociación entre complicaciones y peor calidad de vida es un motivo más para alcanzar un buen control metabólico, optimizar el manejo de factores de riesgo, evitando o retrasando la aparición de complicaciones.

[Not Available].

PubMed

López-Fuenzalida, Antonio; Valdés-Badilla, Pablo; Herrera-Valenzuela, Tomás; Rodríguez Canales, Carolina; Reyes Ponc, Álvaro; Arriaza Ardiles, Enrique; Durán Agüero, Samuel

2016-06-30

Introducción: la categorización del estado nutricional a través del índice de masa corporal (IMC) es uno de los recursos de valoración clínica más utilizados en el síndrome metabólico (SM). Sin embargo, es desconocida su capacidad para identificar las diferencias en la composición corporal.Objetivo: determinar si las variaciones en el estado nutricional se reflejan en la composición corporal en mujeres con SM e identificar la concordancia de clasificación del riesgo cardiometabólico entre el estado nutricional e índices antropométricos.Material y métodos: la muestra incluyó 136 mujeres (edad 42 ± 3,5 años) con SM. Se evaluó el estado nutricional, masa muscular, masa adiposa, perímetro de cintura (PC), índice cintura-cadera (ICC) e índice cintura-estatura (ICE). Se compararon los valores de composición corporale índices antropométricos; adicionalmente se determinó la concordancia clasificatoria del riesgo cardiometabólico entre los índices y el IMC.Resultados: solo la edad (p = 0,358), estatura (p = 0,209) y porcentaje de adiposidad (p = 0,234) no mostraron diferencias significativas entre los grupos. La mejor concordancia clasificatoria del riesgo cardiometabólico se observó en el PC > 88 cm (94,9%) e ICE ≥ 0,5 (94,1%) al categorizar el IMC en normopeso vs. exceso de peso; mientras que el PC > 88 cm obtuvo mejor concordancia separando al grupo en normopeso-sobrepesovs. obesidad (85,3%), aunque la sensibilidad y especificidad fueron más homogéneas con el ICC ≥ 0,85.Conclusión: el IMC no logra identificar las variaciones de la adiposidad corporal en mujeres con SM agrupadas según su estado nutricional. El IMC presenta mejor sensibilidad que especificidad respecto a los índices considerados para determinar riesgo cardiometabólico en mujeres con SM.

Cytogenetic and molecular predictors of response in patients with myeloid malignancies without del[5q] treated with lenalidomide

PubMed Central

2012-01-01

Background While lenalidomide (LEN) shows high efficacy in myelodysplastic syndromes (MDS) with del[5q], responses can be also seen in patients presenting without del[5q]. We hypothesized that improved detection of chromosomal abnormalities with new karyotyping tools may better predict response to LEN. Design and methods We have studied clinical, molecular and cytogenetic features of 42 patients with MDS, myeloproliferative neoplasms (MPN), MDS/MPN overlap syndromes and secondary acute myeloid leukemia (sAML) without del[5q] by metaphase cytogenetics (MC) who underwent therapy with LEN. Results Fluorescence in situ hybridization (FISH) or single nucleotide polymorphism array (SNP-A)-based karyotyping marginally increased the diagnostic yield over MC, detecting 2/42 (4.8%) additional cases with del[5q], one of whom were responded to LEN. Responses were more often observed in patients with a normal karyotype by MC (60% vs abnormal MC; 17%, p = .08) and those with gain of chromosome 8 material by either of all 3 karyotyping methods (83% vs all other chromosomal abnormalities; 44% p = .11). However, 5 out of those 6 patients received combined LEN/AZA therapy and it may also suggest those with gain of chromosome 8 material respond well to AZA. The addition of FISH or SNP-A did not improve the predictive value of normal cytogenetics by MC. Mutational analysis of TET2, UTX, CBL, EZH2, ASXL1, TP53, RAS, IDH1/2, and DNMT-3A was performed on 21 of 41 patients, and revealed 13 mutations in 11 patients, but did not show any molecular markers of responsiveness to LEN. Conclusions Normal karyotype and gain of chromosome 8 material was predictive of response to LEN in non-del[5q] patients with myeloid malignancies. PMID:22390313

Estudio fotométrico de estrellas tardías de alta luminosidad en 23 cúmulos abiertos

NASA Astrophysics Data System (ADS)

Clariá, J. J.; Piatti, A. E.; Osborn, W.

Se presentan resultados obtenidos en los Observatorios de Cerro Tololo, Kitt Peak, Lowell y Las Campanas, a partir de fotometría UBV y DDO de 54 estrellas tardías de alta luminosidad en 23 cúmulos abiertos. La aplicación de dos criterios fotométricos independientes permite asignar a cada estrella probabilidades de pertenencia a cada agregado. Se encuentra que 32 estrellas son muy probablemente miembros de los cúmulos, mientras que las restantes son objetos del campo. En todos los casos se determinan excesos de color E(B-V) a través de procedimientos fotométricos y espectroscópicos tradicionales. Recientes calibraciones del sistema DDO permiten, además, derivar tipos espectrales MK, temperaturas efectivas, y abundancias superficiales de la muestra examinada. Las metalicidades DDO derivadas se distribuyen entre valores típicos de cúmulos moderadamente pobres en metales ([Fe/H]~=-0.3) y moderadamente ricos ([Fe/H]~=0.2), en tanto que las masas calculadas para las gigantes rojas oscilan entre 1 y 4 masas solares, con una dispersión dentro de cada cúmulo menor que 1 Msolar.

"banca del Fare" Summer School in Alta Langa: «THE Ruins to BE Rebuilt Will BE Our CLASSROOMS». Knowledge from Artisans to New Generations, from Ancient Skills to New Building Techniques

NASA Astrophysics Data System (ADS)

Villata, M.

2017-05-01

"Banca del fare" is an ambitious project proposed by "Cultural Park Alta Langa". It is born to hand ancient knowledges down to young people, as meeting place useful to exchange the development of new construction techniques and at the same time the traditional ones. A program of educational workshops, which constitute the summer school, was organized for increasing communication among different generations. Indeed, the last local craftsmen or artisans are coming out from their employment and there is no training process to ensure the migration of knowledge to young architects. The activities of the school took place for the first time during summer of 2016 in Alta Langa, the southern part of Langhe in Piedmont. The landscape of this area is marked by small rural architectures called "ciabòts" shed all over the countryside. Artisans and students work together to recover these buildings every year. The aim of this landscape heritage's valorization is to relate the restored ciabòt into a network, in order to create a widespread hotels system. Therefore, the essay wants to present the results of "Banca del fare" and to suggest a GIS project that can gather information about numerous "ciabòt" widespread in this territory. The interaction between land development and networking process can ensure the optimal reuse of these rural architectures.

[In Process Citation].

PubMed

Alarcón Hormazábal, Manuel; Delgado Floody, Pedro; Castillo Mariqueo, Lidia; Thuiller Lepelegy, Nicole; Bórquez Becerra, Pablo; Sepúlveda Mancilla, Carlos; Rebolledo Quezada, Sara

2016-03-25

Introducción: existe una alta prevalencia de sedentarismo, sobrepeso y obesidad en jóvenes universitarios. Objetivo: el propósito del estudio fue determinar los efectos de un programa de entrenamiento intervalado de alta intensidad (HIIT) sobre el perfil antropométrico, glicemia basal y VO 2 máx (consumo máximo de oxígeno) de jóvenes sedentarios con malnutrición por exceso. Material y métodos: 6 mujeres y 2 hombres (2 obesos y 6 con sobrepeso) se sometieron a un programa de entrenamiento de alta intensidad de 8 semanas de duración (3 sesiones/semana). Se evaluó en ayuno y posterior a 72 horas de la última intervención; peso, índice de masa corporal (IMC), contorno de cintura (CC), perímetro de cadera y glicemia de basal. El VO 2 máx fue evaluado en condiciones normales previo a la primera sesión. Resultados: las variables de estudio no presentaron cambios significativos (p > 0,05), pero reportaron disminuciones porcentuales. El peso disminuyó un 0,18%, el IMC un 0,27%, el CC 2,67%, el perímetro de cadera un 1,15%, y el VO 2 máx un 0,48%. La glicemia basal presentó la mayor disminución, pasó de 95,13 ± 23,91 a 89,88 ± 12,45 mg/dl (5,52%), estabilizando y mejorando sus niveles en cada uno de los participantes. Conclusiones: el programa de entrenamiento intervalado de alta intensidad fue factible de realizar sin resultados adversos para la salud de los participantes, la glicemia basal mostró la mayor variación, estabilizando sus valores en los participantes, lo que es un indicador positivo dentro del programa. Es necesario seguir investigando sobre esta metodología HIIT y aumentar los tiempos de estudio para ver los cambios que se pueden producir en distintos parámetros metabólicos, antropométricos y físicos en población con malnutrición por exceso.

Physical Properties of the SKYLAB North Polar Coronal Hole with an Extended Base and its MHD Self-Consistent Modelling

NASA Astrophysics Data System (ADS)

Bravo, S.; Ocania, G.

1991-04-01

RESUMEN Con base en las observaciones del Skylab del Sol en rayos X que permitieron r la forma de la frontera del hoyo coronal del polo norte y en las observaciones de l 'z que permitieron derivar un perfil de densidad para el flujo de viento solar (IC ese hoyo, Murno yjackson (1977) concluyeron que se requiere una adici6n t l clc energfa al flujo hasta al menos 5 R8. En este trabajo, recalculamos los perfiles de y de temperatura para el mismo hoyo pero considerando una frontera Cs mas ancha en la base, de acuerdo con las observaciones del coron6metro-K del IIAO, los espectroheliogramas en EUV del OSO-7 y las fotografias de la corona solar cerca de los 4 E)()O A. Se tomaron tambien las incertidumbres en el perfil de densidad electr6nica inl & a las observaciones de luz blanca y se consideraron diversos valores posibles dCl fl 'jo (lC masa 1 UA. Encontramos que las diferencias introducidas no son suficientes par clcsc' la necesidad de una energetizaci6n extensa del viento solar, pero una dC las s posibles muestra una concordancia muy buena con el modelado MHD (l( l flujo con el unico t6rmino adicional de la fuerza de Lorentz en la ecuaci6n de # (). ABSTRACT Based on the near to the Sun boundary of the Skylab north polar coroi ' l estimated from the AS & E X-ray photographs and on the density profile fi-C)I white light data, Munro and Jackson (1977) concluded that substantial energy the solar wind flux is required up to at least 5 Rs. In this paper we recalculate `eloci y and temperature profiles for the same hole but considering a different bo ' ry for flux tube which is larger at its base, according to the HAO K- obser"' (i()I0 , the OSO-7 EUV spectroheliograms and pictures of the solar 4500 A. è take into account the uncertainties inherent in the white light observations () electron density profile and consider different possible values of the solar I .' fltix at 1 AU. We that the differences introduced are not sufficient to discard ii y of an extended energetization of the wind, one of the possibilities allowed for fltix the observational uncertailities shows a very good agreement wi4 an NI Ill) seli'consistent modelling with the only additional term of the Lorentz force in the iiii equation. Key words: SUN-CORONA

Confidence Intervals for Omega Coefficient: Proposal for Calculus.

PubMed

Ventura-León, José Luis

2018-01-01

La confiabilidad es entendida como una propiedad métrica de las puntuaciones de un instrumento de medida. Recientemente se viene utilizando el coeficiente omega (ω) para la estimación de la confiabilidad. No obstante, la medición nunca es exacta por la influencia del error aleatorio, por esa razón es necesario calcular y reportar el intervalo de confianza (IC) que permite encontrar en valor verdadero en un rango de medida. En ese contexto, el artículo plantea una forma de estimar el IC mediante el método de bootstrap para facilitar este procedimiento se brindan códigos de R (un software de acceso libre) para que puedan realizarse los cálculos de una forma amigable. Se espera que el artículo sirva de ayuda a los investigadores de ámbito de salud.

Gay theatre, AIDS, and taboo: reconsidering Robert Chesley.

PubMed

Gavrila, Rebecca

2013-01-01

Theatre was among the first popular culture forms to address HIV/AIDS and did so memorably in such works as The Normal Heart, As Is, Love! Valor! Compassion!, and March of the Falsettos. As a response to criticisms of stage dramas focusing on HIV/AIDS in the main as undifferentiated and melodramatic, the author suggests critical consideration of two works by playwright Robert Chesley. In her analysis of Night Sweats and Jerker, the author argues Chesley offers an alternative perspective that is both liberatory and sex-positive.

Evolución de estrellas enanas blancas en el contexto de una constante de gravitación G variable en el tiempo

NASA Astrophysics Data System (ADS)

Benvenuto, O. G.; Althaus, L. G.; Torres, D. F.

En este trabajo se estudia por primera vez de manera autoconsistente la evolución de las estrellas enanas blancas en el caso de una constante de gravitación G variable en el tiempo. Teniendo en cuenta que: 1) las enanas blancas son en general estrellas muy viejas y 2) su fuente de energía es básicamente de origen térmico y gravitacional, estos objetos son en principio muy adecuados para analizar distintas teorías de gravitación. Los cálculos que aquí presentamos fueron realizados utilizando nuestro código de evolución estelar, el cual calcula la evolución de estrellas enanas blancas por medio del esquema iterativo de Henyey. Dicho código, basado en una descripción física muy detallada, ha sido modificado para tener en cuenta la variación del valor de G. Encontramos que un G variable (decreciente en el tiempo) modifica fuertemente la evolución de las enanas blancas, conduciendo a un rápido enfriamiento de la estrella. Nuestros resultados son comparados con recientes datos observacionales sobre la función de luminosidad de las enanas blancas.

[Not Available].

PubMed

Clavijo-Redondo, Arturo R; Vaquero-Cristóbal, Raquel; López-Miñarro, Pedro A; Esparza-Ros, Francisco

2016-06-30

Introducción: a pesar de que las características antropométricas es uno de los métodos utilizados dentro de la selección de talentos deportivos, son pocos los estudios que han analizado el perfil morfológico del jugador de béisbol de élite.Objetivo: analizar el perfil antropométrico de los jugadores de béisbol de élite nacional de forma global y según el puesto ocupado.Material y métodos: Doscientos diecisiete jugadores de béisbol masculino (edad: 23,87 ± 5,32 años) de la División de Honor española participaron en el presente estudio. A todos ellos se les clasificó según su posición de juego y se les realizó una valoración antropométrica. Posteriormente se calculó su somatotipo, composición corporal, índice de masa corporal (IMC) y sumatorio de seis pliegues.Resultados: los jugadores no mostraron diferencias significativas en función de su posición en el campo en la talla, el peso, los pliegues tríceps, subescapular, bíceps, supraespinal, abdominal y pierna, ni en el sumatorio de seis pliegues o el diámetro biestiloideo. Sí que se encontrarondiferencias significativas en el pliegue del muslo, perímetros del brazo contraído y pierna y diámetros biepicondíleo del húmero y fémur. Tampoco se hallaron diferencias significativas en el IMC, la composición corporal o el somatotipo. Los valores de endomorfia fueron altos, los de mesomorfia altos o medio-altos y los de ectomorfia bajos, siendo la clasificación del somatotipo mesoendomorfo o endomorfo-mesomorfo según la posición de juego.Conclusión: existe una gran homogeneidad en el perfil antropométrico de los jugadores de béisbol según su posición de juego, diferenciándose únicamente en algunas variables antropométricas como perímetros y diámetros.

Combinación de Valores de Longitud del Día (LOD) según ventanas de frecuencia

NASA Astrophysics Data System (ADS)

Fernández, L. I.; Arias, E. F.; Gambis, D.

El concepto de solución combinada se sustenta en el hecho de que las diferentes series temporales de datos derivadas a partir de distintas técnicas de la Geodesia Espacial son muy disimiles entre si. Las principales diferencias, fácilmente detectables, entre las distintas series son: diferente intervalo de muestreo, extensión temporal y calidad. Los datos cubren un período reciente de 27 meses (julio 96-oct. 98). Se utilizaron estimaciones de la longitud del día (LOD) originadas en 10 centros operativos del IERS (International Earth Rotation Service) a partir de las técnicas GPS (Global Positioning System) y SLR (Satellite Laser Ranging). La serie temporal combinada así obtenida se comparó con la solución EOP (Parámetros de la Orientación Terrestre) combinada multi-técnica derivada por el IERS (C04). El comportamiento del ruido en LOD para todas las técnicas mostró ser dependiente de la frecuencia (Vondrak, 1998). Por esto, las series dato se dividieron en ventanas de frecuencia, luego de haberles removido bies y tendencias. Luego, se asignaron diferentes factores de peso a cada ventana discriminando por técnicas. Finalmente estas soluciones parcialmente combinadas se mezclaron para obtener la solución combinada final. Sabemos que la mejor solución combinada tendrá una precisión menor que la precisión de las series temporales de datos que la originaron. Aun así, la importancia de una serie combinada confiable de EOP, esto es, de una precisión aceptable y libre de sistematismos evidentes, radica en la necesidad de una base de datos EOP de referencia para el estudio de fenómenos geofísicos que motivan variaciones en la rotación terrestre.

Presentación del estudio "Links" de hombres que tienes sexo con hombres en Buenos Aires, Argentina.

PubMed

Carballo-Diéguez, Alex; Avila, María M; Balán, Iván C; Marone, Rubén; Pando, María A; Barreda, Victoria

2011-03-01

Estudios previos en Buenos Aires reportaron altas prevalencias de HIV entre HSH, con valores que oscilan entre 9 y 14% durante casi 10 años de continuo testeo. El objetivo principal de este estudio fue la evaluación de factores relacionados al comportamiento de alto riesgo para transmisión del HIV entre HSH entre los que se incluyen el conocimiento y factores emocionales, socioculturales y ambientales. Por otro lado se realizó la estimación de prevalencia e incidencia de HIV utilizando RDS (Respondent Driven Sampling), así como la presencia de otras infecciones de transmisión sexual. Por último se evaluaron los hábitos de testeo para HIV indagando que factores facilitan o impiden su realización. El estudio constó de dos fases, en primer lugar una fase cualitativa y posteriormente una fase cuantitativa con una duración total de 4 años y medio. Durante la fase cualitativa se realizaron 44 entrevistas individuales en profundidad, 8 grupos focales y 10 observaciones etnográficas (hoteles, baños públicos ("teteras"), cines pornográficos, fiestas privadas, dark rooms y discotecas). Durante la fase cuantitativa del estudio se realizó el reclutamiento de 500 participantes que provinieron de la Ciudad Autónoma de Buenos Aires, así como del Gran Buenos Aires. El reclutamiento se comenzó con 16 participantes llamados semillas. Se realizó el diagnóstico de infección por HIV, hepatitis B y C (HBV y HCV), Treponema pallidum, Virus Papiloma Humano (HPV) y Chlamidias. La colaboración establecida entre los grupos de trabajo enfocados en áreas diversas posibilitó el abordaje conjunto de nuevas estrategias de investigación antes no exploradas en nuestro país. Los resultados más relevantes de esta investigación serán progresivamente publicados en sucesivos números de Actualizaciones en SIDA.

[Not Available].

PubMed

Burgos Peláez, Rosa; Cuerda Compes, María Cristina; García-Luna, Pedro P; Martínez Faedo, Ceferino; Mauri Roca, Sílvia; Moreno Villares, José Manuel; Virgili Casas, M Nuria; Wanden-Berghe, Carmina

2016-07-19

Introducción:la nutrición parenteral (NP) a largo plazo puede asociarse a complicaciones graves, con un deterioro importante de la calidad de vida de los pacientes con síndrome de intestino corto (SIC). Teduglutida, un análogo del péptido-2 similar al glucagón, pertenece a una nueva familia terapéutica y representa el primer abordaje no sintomático del SIC. Objetivos: revisar los datos preclínicos y clínicos en cuanto a eficacia y seguridad de teduglutida. Resultados: la aprobación de teduglutida se basó en los resultados de un estudio en fase III de 24 semanas, doble ciego, controlado con placebo (STEPS). Pacientes con fallo intestinal por SIC dependientes de NP ≥ 3 veces/semana durante ≥ 12 meses recibieron 0,05 mg/kg de teduglutida (n = 43) o placebo (n = 43) 1 vez/día. En la semana 24 hubo significativamente más respondedores en el grupo de teduglutida que en el de placebo (63 vs.30%; p = 0,002). La reducción absoluta media del volumen de NP frente al valor basal en la semana 24 fue significativamente mayor con teduglutida (4,4 vs.2,3 l/semana; p < 0,001). La necesidad de NP se redujo ≥ 1 día en la semana 24 en el 54% de pacientes tratados con teduglutida vs.23% con placebo. Del total de pacientes que recibieron teduglutida en los ensayos en fase III (n = 134), el 12% consiguió una autonomía completa de la NP. Por lo general, la administración subcutánea de teduglutida se toleró bien. Conclusiones: se ha demostrado que teduglutida recupera la absorción intestinal y reduce significativamente la dependencia de la NP, consiguiendo incluso la independencia en algunos pacientes.

PubMed

Ferrer Gómez, Mercedes; García Zafra, María Victoria; Cuenca Sánchez, Juan Ramón; Sánchez Romera, Juan Francisco; Aranda García, Ana; Rausell Rausell, Víctor José; Hernández Martínez, Antonio Miguel

2016-09-20

Introducción: en Murcia, y hasta 2010, la administración de la nutrición enteral domiciliaria (NED) dictaba cumplir la regulación marcada en cuanto a los facultativos con competencias para su prescripción.Objetivos: examinar aspectos esenciales de este recurso en el periodo 2007-2010, características de la muestra y evolución del coste, así como perspectivas de futuro.Métodos: estudio del perfil de la población NED en un área de salud específica. Selección de recetas facturadas de productos NED en el conjunto de la Región, clasificación por tipos y análisis de la evolución en importe y en envases para el periodo 2007-2010.Resultados: respecto al perfil de la muestra del Área I de Salud de la Región, la patología, vía de administración y tipo de nutrición más frecuentes resultaron, respectivamente, la enfermedad neurológica, la vía oral y la nutrición no específica. Por otro lado, el gasto sanitario en productos dietoterápicos, en el Servicio Murciano de Salud, aumentó alrededor del 50% entre los años 2007 y 2010. Tanto en envases como en importe, Murcia se sitúa por encima de la media nacional.Conclusiones: el perfil de la muestra no coincide con trabajos publicados en otras regiones. Este dato, junto a la posición de Murcia en gasto dietoterápico, y su evidente tendencia al alza en los años analizados, hace evidente la necesidad de medidas que mejoren la calidad de la NED en la Región de Murcia y, en caso de ser posible, conseguir alcanzar valores nacionales en relación con el consumo medio y el gasto.

Declaratoria del IV Congreso Nacional de Educacion Normal (Declaration of the Fourth National Congress on Normal Education).

ERIC Educational Resources Information Center

El Maestro, Mexico, 1970

1970-01-01

This document is an English-language abstract (approximately 1,500 words) of a desclaration drawn up by the participants of the Fourth Mexican National Congress of Normal Education. The declaration points out the importance of teacher training in the educational system, the fundamental problems presently facing this level of studies and the…

Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.

PubMed

Phulwani, Priya; Bergwitz, Clemens; Jaureguiberry, Graciana; Rasoulpour, Majjid; Estrada, Elizabeth

2011-03-01

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. The patient's mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2-6 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis. Copyright © 2011 Wiley-Liss, Inc.

Hereditary Hypophosphatemic Rickets With Hypercalciuria and Nephrolithiasis—Identification of a Novel SLC34A3/NaPi-IIc Mutation

PubMed Central

Phulwani, Priya; Bergwitz, Clemens; Jaureguiberry, Graciana; Rasoulpour, Majjid; Estrada, Elizabeth

2015-01-01

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. The patient’s mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2–6 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis. PMID:21344632

Distribución del continuo ultravioleta e infrarrojo en estrellas Be

NASA Astrophysics Data System (ADS)

Cruzado, A.; Ringuelet, A.; di Rocco, H.

Estamos interesados en interpretar los excesos de flujo infrarrojo y/o ultravioleta observados en estrellas Be con respecto al de estrellas B normales, así como su posible correlación. Una envoltura rodeando la estrella distingue una estrella Be de una B normal; para explicar las observaciones es necesario entonces tener en cuenta todos los posibles procesos físicos que en ella tienen lugar. Adoptando un modelo atmosférico específico, hemos estudiado el proceso de recombinación dielectrónica de metales como MgII y FeII, teniendo en cuenta la posible influencia de la opacidad del medio en el flujo emitido.

Sviluppi di Ricevitori E di Componentistica Per Banda 3 mm Ad INAF-OA Cagliari

NASA Astrophysics Data System (ADS)

Navarrini, Alessandro

2017-11-01

L'INAF-OA Cagliari (OACa) sta sviluppando un ricevitore criogenico a basso rumore basato su un mixer SSB (Single Side Band) a superconduttore SIS (Superconductor-Insulator-Superconductor) per la banda 3 mm. Il ricevitore, acquistato da IRAM, è stato fortemente modificato per essere adattato al fuoco Gregoriano di SRT (Sardinia Radio Telescope). Lo strumento è caratterizzato da una nuova criogenia a ciclo chiuso 4 K (per evitare l'uso di elio liquido in antenna), da un nuovo oscillatore locale (di tipo ALMA Banda 3) e da un nuovo sistema di controllo e di monitoraggio basato su schede Raspberry ed Arduino sviluppato ad OACa. Verranno presentati i recenti sviluppi sul ricevitore, inclusi i risultati preliminari della misura della temperatura di rumore, che raggiunge un valore pari a Trec=66 K alla frequenza di 86 GHz, nonostante la criogenia non sia ancora ottimizzata. L'INAF-OACa è coinvolto nel progetto AETHRA (Advanced European Technologies for Heterodyne Receivers for Astronomy) nel quadro del programma Radionet/Horizon2020 per il quale sta contribuendo al WP1 (Work Package 1). Lo scopo del WP1 è di sviluppare e costruire un dimostratore di un array di ricevitori a doppia polarizzazione per la banda 3 mm basato su amplificatori criogenici a basso rumore (LNA) in tecnologia a semiconduttore MMIC. Nell'ambito del WP1 l'OACa ha in carico il progetto di un OrthomodeTransducer (OMT) in guida d'onda o in tecnologia planare per la banda 72-116 GHz che sia integrabile con amplificatori MMICs ed adatto all'integrazione in un array da installare nel piano focale di un radiotelescopio. Verranno presentati i design preliminari degli OMT per AETHRA, che sono basati su prototipi sviluppati in passato da OACa.

PubMed

Ramírez-Vélez, Robinson; Triana-Reina, Héctor Reynaldo; Carrillo, Hugo Alejandro; Ramos-Sepúlveda, Jeison Alexander

2016-11-29

Objetivo: evaluar la relación entre la percepción de las barreras para la práctica de la actividad física (AF) con la presencia de obesidad abdominal (OA) en universitarios de Colombia.Métodos :estudio descriptivo y transversal en 5.663 sujetos entre 18 y 30 años de edad (3.348 hombres), pertenecientes a tres ciudades de Colombia. Se midió la circunferencia de cintura (CC) como indicador de OA y el riesgo se clasificó según valores de referencia internacionales. La autopercepción de barreras se determinó con el cuestionario Barriers to Being Active Quiz (BBAQ-21) validado en Colombia. Se calcularon razones de prevalencia (RP) entre cada dominio del cuestionario y clasificación de OA.Resultados: la prevalencia de obesidad abdominal fue del 10,4% con diferencias por sexo (7,3% hombres vs.12,6% mujeres p < 0,01). La "falta de tiempo", la "influencia social" y la "falta de habilidades" fueron las barreras más prevalentes para cesar la práctica de AF en el grupo de entrevistados con OA en ambos sexos. Al comparar los estudiantes con CC saludable, la RP de presentar OA fue mayor en el grupo de mujeres que en hombres en los dominios del cuestionario BBAQ-21 "falta de tiempo" (RP = 1,33 [IC 95% 1,11-1,60]) vs.(RP = 1,14 [IC 95% 1,03-1,26]) y "falta de recursos" (RP = 1, 93 [IC 95% 11,67-2,24])vs. (RP = 1,83 [IC 95% 1,68-1,99]), respectivamente.Conclusión: una mayor autopercepción de las barreras para realizar AF se relacionó con mayor frecuencia en el grupo con OA en universitarios de Colombia.

[Not Available].

PubMed

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.

An "If This, Then that" Formulation of Decisions Related to Social Role Valorization as a Better Way of Interpreting It to People

ERIC Educational Resources Information Center

Wolfensberger, Wolf

2011-01-01

Social Role Valorization is interpreted as a high-order empirical social science theory that informs people about the relation between the social roles that people hold and what happens to them as a result, and how to valorize (improve or defend) the social roles of people at risk of social devaluation. Because Social Role Valorization is not a…

Effect and key factors of byproducts valorization: the case of dairy industry.

PubMed

Banaszewska, A; Cruijssen, F; Claassen, G D H; van der Vorst, J G A J

2014-01-01

Production of many consumer products results in byproducts that contain a considerably large part of nutrients originating from input materials. High production volumes, environmental impact, and nutritional content of byproducts make them an important subject for careful valorization. Valorization allows us to explore the possibility of reusing nutrients in the production of main products, and thus highlights the potential gains that can be achieved. The main aim of this study was to evaluate the added value of cheese whey valorization, and to determine the effect of integral valorization of main products and byproducts on the profit of a dairy producer. Several scenarios and cases were implemented and analyzed using a decision support tool, the integral dairy valorization model. Data originated from the international dairy processor FrieslandCampina (Amersfoort, the Netherlands). The outcomes of scenarios were analyzed with regard to profit and shifts in the production of nonwhey end products, and were validated by company experts. Modeling results showed that the valorization of byproducts is very profitable (24.3% more profit). Furthermore, additional profit can be achieved when 2 valorization processes (main products and byproducts) are integrated. This effect is, however, considerably affected by current capacity and market demand limitations. Significant benefits can be created if demand of whey-based products is increased by 25%. Copyright © 2014 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Gabapentina a dosis de 300 vs. 450 mg como premedicación anestésica para hipertensión reactiva, ansiedad y analgesia.

PubMed

Rascón-Martínez, Dulce María; Guzmán-Sánchez, Joaquín Antonio; Corral-Urdapilleta, Nora Paulina; Arguelles-Uribe, Gema Damaris; Velázquez-Loeza, Jazmín; Soto-Palma, Gustavo; Carrillo-Torres, Orlando

Observar el comportamiento de la gabapentina para aminorar la hipertensión reactiva secundaria a ansiedad y dolor en pacientes sometidos a cirugía oftálmica, así como el consumo de opiáceos entre los grupos. Ensayo clínico controlado aleatorizado y doble ciego que analizó a 125 pacientes divididos en tres grupos: grupo A, gabapentina 300 mg; grupo B, gabapentina 450 mg; grupo C, amaranto en grageas como control 2 horas antes del procedimiento quirúrgico. Se utilizó la prueba de ji al cuadrado para variables sociodemográficas y ANOVA de un factor para variables numéricas continuas. Se consideró como significativo un valor de p < 0.05 para un estudio de dos colas con un poder beta del 80%. La ansiedad y la analgesia transoperatoria y posoperatoria tuvieron diferencias significativas entre los grupos. Se encontró menor consumo de opiáceos en los grupos que usaron gabapentina. La gabapentina por vía oral, 300 o 450 mg, 2 horas antes de la cirugía, reduce el dolor, la ansiedad y el consumo de opiáceos durante el posoperatorio en pacientes sometidos a cirugía oftalmológica. Copyright: © 2018 SecretarÍa de Salud

[Value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness].

PubMed

Sun, Xuejing; Xing, Xinli; He, Qingqing; Zhou, Lin; Zhang, Jing; Zhao, Qing; Hou, Huili; Xi, Zuoming

2017-10-10

To assess the value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness. In this study, 2168 couples with normal hearing were screened for common mutations associated with congenital deafness using real-time fluorescence quantitative PCR. The mutations have included GJB2 c.235delC and c.299_300delAT, SLC26A4 c.2168A>G and c.IVS7-2A>G, and mtDNA 12SrRNA c.1494C>T and c.1555A>G. For couples who have both carried heterozygous mutations of the same gene, genetic counseling and prenatal diagnosis were provided. Among of the 4 336 individuals, 178 (4.06%) were found to carry a mutation. Mutation rate for c.235delC and c.299_300delAT of GJB2 gene, c.IVS7-2 A>G and c.2168 A>G of SLC26A4 gene, c.1555 A>G and c.1494 C>T of DNA 12S rRNA gene were 0.91%, 0.20%, 0.68%, 0.11%, 0.1% and 0.01%, respectively. For six couples who have both carried mutations of the same gene, all fetuses showed a normal karyotype, while DNA sequencing indicated that two fetuses have carried homozygous c.235delC mutation of the GJB2 gene, one carried a heterozygous c.235delC mutation of the GJB2 gene, one carried heterozygous mutation of GJB2 gene (c.299_300delAT), and two have carried a heterozygous mutation of c.IVS7-2A>G of the SLC26A4 gene. Pre-gestational screening for deafness gene mutation can facilitate avoidance the birth of affected children and has a great clinical value for the prevention and intervention of birth defect.

Simulation of regional-scale groundwater flow in the Azul River basin, Buenos Aires Province, Argentina

NASA Astrophysics Data System (ADS)

Varni, Marcelo R.; Usunoff, Eduardo J.

A three-dimensional modular model (MODFLOW) was used to simulate groundwater flow in the Azul River basin, Buenos Aires Province, Argentina, in order to assess the correctness of the conceptual model of the hydrogeological system. Simulated heads satisfactorily match observed heads in the regional water-table aquifer. Model results indicate that: (1) groundwater recharge is not uniform throughout the region but is best represented by three recharge rates, decreasing downgradient, similar to the distribution of soils and geomorphological characteristics; and (2) evapotranspiration rates are larger than previous estimates, which were made by using the Thornthwaite-Mather method. Evapotranspiration rates estimated by MODFLOW agree with results of independent studies of the region. Model results closely match historical surface-flow records, thereby suggesting that the model description of the aquifer-river relationship is correct. Résumé Un modèle modulaire tridimensionnel (MODFLOW) a été utilisé pour simuler les écoulements souterrains dans le bassin de la rivière Azul (Province de Buenos Aires, Argentine), dans le but d'évaluer la justesse du modèle conceptuel du système hydrogéologique. La piézométrie simulée s'ajuste de façon satisfaisante à celle observée pour l'ensemble de la nappe. Les résultats du modèle indiquent que: (1) la recharge de la nappe n'est pas uniforme sur toute la région, mais qu'elle est mieux approchée par trois valeurs différentes, décroissant vers l'aval-gradient, en suivant la même distribution que les sols et les caractéristiques géomorphologiques et (2) l'évapotranspiration est nettement plus importante que prévu initialement à partir de la méthode de Thornthwaite-Mather. Les valeurs d'évapotranspiration fournies par MODFLOW concordent bien avec les résultats d'autres études portant sur la région. Les résultats du modèle reproduisent convenablement les chroniques de débit des écoulements de surface, suggérant ainsi que la description par le modèle des relations rivière-nappe est correcte. Resumen Se ha utilizado el modelo MODFLOW, del Servicio Geológico de los Estados Unidos, para simular el flujo de agua subterránea en la cuenca del arroyo del Azul, Provincia de Buenos Aires, Argentina, con el objeto de evaluar el modelo hidrogeológico conceptual. Los niveles hidráulicos simulados ajustan satisfactoriamente con los niveles observados. Los resultados de la simulación indican que: (1) la recarga no es uniforme, sino que puede caracterizarse con tres zonas en las que sus valores decrecen en la medida en que decrece la pendiente, que guarda similitud con la distribución de suelos y características geomorfológicas y (2) la evapotranspiración sería mayor que la estimada en estudios previos, en los que se utilizó el método de Thornthwaite-Mather. La evapotranspiración estimada mediante la presente simulación concuerda con resultados de varios estudios independientes en la región. Respecto de la relación acuífero-río, existe un muy buen ajuste entre los aportes del acuífero al río simulados y los valores históricos de caudal base.

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

The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility*

PubMed Central

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

Moving towards South-South International Health: debts and challenges in the regional health agenda.

PubMed

Herrero, María Belén

2017-07-01

The aim of this paper is twofold. First, it aims to investigate the increased interest in health as an important dimension of the foreign policy and diplomatic concerns together with the emergence of a new framework for regional health integration and regional health diplomacy. Second, it seeks to understand the role and practices of new regional blocs in the field of health and whether they are conducting to the emergence of new strategies for addressing health regional policies in South America. The regional policy process relates to health as a right. Thus, some practices and processes in social policy are setting new standards for political and social cohesion in the construction of new regionalism. Health crosses national, regional, and global agendas in a multi-directional fashion, rather than via one-way, top-down policy transfer. A special feature of Unasur is upholding regional health sovereignty despite the unique fact that member countries retain national autonomy. Unasur has projected foreign policy that promotes social values in ways that seem innovative. Experience as Unasur shows that regional organisms can become a game changer in global diplomacy and an influential actor in the international agenda. Resumen El objetivo de este artículo es doble. En primer lugar,investigar el creciente interés en la salud como una dimensión importante de la política exterior, en sintonía con el surgimiento de un nuevo marcopara la integración regional y la diplomacia en salud. En segundo lugar, comprender el papel y las prácticas de los nuevos bloques regionales en el campo de la salud y si estasconducena la emergencia de nuevas estrategias para abordar las políticas sanitarias regionales en América del Sur. Los nuevos procesos de integración regional se refieren a la salud como un derecho. Así, algunas prácticas y procesos de la política regional están estableciendo nuevos patrones de cohesión política y social en el avancede un nuevo regionalismo. La salud en este proceso de formulación e implementación de la política regional,atraviesa las agendas nacionales, regionales y globales de forma multidireccional. Un valor agregado de Unasur es su propuesta de avanzar es pos de una mayor soberanía regional en salud, a pesar del hecho de que los países miembros mantienen su autonomía nacional. En este sentido, Unasur ha proyectado una política exterior que promueve principios y valores a partir de un enfoque innovador. El caso de Unasur muestra que los organismos regionales tienen el potencial para cambiar las reglas (y el resultado) del juego en la diplomacia global y convertirse en actores influyentes en la agenda internacional.

A "safe space" for learning and reflection: one school's design for continuity with a peer group across clinical clerkships.

PubMed

Chou, Calvin L; Johnston, C Bree; Singh, Bobby; Garber, Jonathan D; Kaplan, Elizabeth; Lee, Kewchang; Teherani, Arianne

2011-12-01

The value of continuity in medical education, particularly during clerkships, is increasingly recognized. Previous clerkship-based models have described changes that emphasize continuity in patient care, learner supervision, and curriculum. The creation of continuous student peer groups can foster interactions that enhance mutual support through uncomfortable professional transitions during the clerkship years. Here, the authors describe a third-year clerkship model based at the San Francisco Veterans Affairs (VA) Medical Center called VA Longitudinal Rotations (VALOR), designed explicitly to establish a supportive learning environment for small peer groups.Seven groups of medical students (42 total) completed VALOR across three academic years between 2007 and 2009. On clerkships during VALOR, one hour per week was designated for faculty-facilitated sessions amongst peer groups. Students' perceptions of peer group support and overall program satisfaction were determined with immediate post surveys and focus groups at the end of VALOR, and with follow-up surveys 5 to 27 months after completing VALOR. Students strongly valued several elements of VALOR peer groups, including support through clerkship challenges, meeting for facilitated reflection, and appreciating patient experiences across the continuum of care. Students' appreciation for their peer group experiences persisted well after the conclusion of VALOR. VALOR students performed the same as or better than traditional clerkship students on knowledge and skill-based outcomes. The authors demonstrate that their third-year clerkship program using peer groups has built supportive learning networks and facilitated reflection, allowing students to develop critical professional skills. Student communication around patient care was also feasible and highly valued.

Fault kinematics and depocenter evolution of oil-bearing, continental successions of the Mina del Carmen Formation (Albian) in the Golfo San Jorge basin, Argentina

NASA Astrophysics Data System (ADS)

Paredes, José Matildo; Plazibat, Silvana; Crovetto, Carolina; Stein, Julián; Cayo, Eric; Schiuma, Ariel

2013-10-01

Up to 10% of the liquid hydrocarbons of the Golfo San Jorge basin come from the Mina del Carmen Formation (Albian), an ash-dominated fluvial succession preserved in a variably integrated channel network that evolved coeval to an extensional tectonic event, poorly analyzed up to date. Fault orientation, throw distribution and kinematics of fault populations affecting the Mina del Carmen Formation were investigated using a 3D seismic dataset in the Cerro Dragón field (Eastern Sector of the Golfo San Jorge basin). Thickness maps of the seismic sub-units that integrate the Mina del Carmen Formation, named MEC-A-MEC-C in ascending order, and mapping of fluvial channels performed applying geophysical tools of visualization were integrated to the kinematical analysis of 20 main normal faults of the field. The study provides examples of changes in fault throw patterns with time, associated with faults of different orientations. The "main synrift phase" is characterized by NE-SW striking (mean Az = 49°), basement-involved normal faults that attains its maximum throw on top of the volcanic basement; this set of faults was active during deposition of the Las Heras Group and Pozo D-129 formation. A "second synrift phase" is recognized by E-W striking normal faults (mean Az = 91°) that nucleated and propagated from the Albian Mina del Carmen Formation. Fault activity was localized during deposition of the MEC-A sub-unit, but generalized during deposition of MEC-B sub-unit, producing centripetal and partially isolated depocenters. Upward decreasing in fault activity is inferred by more gradual thickness variation of MEC-C and the overlying Lower Member of Bajo Barreal Formation, evidencing passive infilling of relief associated to fault boundaries, and conformation of wider depocenters with well integrated networks of channels of larger dimensions but random orientation. Lately, the Mina del Carmen Formation was affected by the downward propagation of E-W to ESE-WNW striking normal faults (mean Az = 98°) formed during the "third rifting phase", which occurs coeval with the deposition of the Upper Member of the Bajo Barreal Formation. The fault characteristics indicate a counterclockwise rotation of the stress field during the deposition of the Chubut Group of the Golfo San Jorge basin, likely associated to the rotation of Southern South America during the fragmentation of the Gondwana paleocontinent. Understanding the evolution of fault-controlled topography in continental basins allow to infer location and orientation of coeval fluvial systems, providing a more reliable scenario for location of producing oil wells.

Presentación del estudio “Links” de hombres que tienes sexo con hombres en Buenos Aires, Argentina

PubMed Central

Carballo-Diéguez, Alex; Ávila, María M; Balán, Iván C.; Marone, Rubén; Pando, María A.; Barreda, Victoria

2011-01-01

Resumen Estudios previos en Buenos Aires reportaron altas prevalencias de HIV entre HSH, con valores que oscilan entre 9 y 14% durante casi 10 años de continuo testeo. El objetivo principal de este estudio fue la evaluación de factores relacionados al comportamiento de alto riesgo para transmisión del HIV entre HSH entre los que se incluyen el conocimiento y factores emocionales, socioculturales y ambientales. Por otro lado se realizó la estimación de prevalencia e incidencia de HIV utilizando RDS (Respondent Driven Sampling), así como la presencia de otras infecciones de transmisión sexual. Por último se evaluaron los hábitos de testeo para HIV indagando que factores facilitan o impiden su realización. El estudio constó de dos fases, en primer lugar una fase cualitativa y posteriormente una fase cuantitativa con una duración total de 4 años y medio. Durante la fase cualitativa se realizaron 44 entrevistas individuales en profundidad, 8 grupos focales y 10 observaciones etnográficas (hoteles, baños públicos (“teteras”), cines pornográficos, fiestas privadas, dark rooms y discotecas). Durante la fase cuantitativa del estudio se realizó el reclutamiento de 500 participantes que provinieron de la Ciudad Autónoma de Buenos Aires, así como del Gran Buenos Aires. El reclutamiento se comenzó con 16 participantes llamados semillas. Se realizó el diagnóstico de infección por HIV, hepatitis B y C (HBV y HCV), Treponema pallidum, Virus Papiloma Humano (HPV) y Chlamidias. La colaboración establecida entre los grupos de trabajo enfocados en áreas diversas posibilitó el abordaje conjunto de nuevas estrategias de investigación antes no exploradas en nuestro país. Los resultados más relevantes de esta investigación serán progresivamente publicados en sucesivos números de Actualizaciones en SIDA. PMID:25264397

The Political Situation in Paraguay Two Years after the Coup

DTIC Science & Technology

1991-11-01

President Rodriguez attended the inaugurations of Presidents Collor, Menem, Lacalle, Aylwin of Chile, and Paz Zamora of Bolivia. By August 1991, King...other parties are normally involved in the international relations areas. Presidents Rodriguez and Paz Zamorra have visited each other’s capitals, and...FBIS 12 July, 1991, pp. 31-34. 13. Carlos Maria Lezcano and Carlos Martini, " Intervencion Politica de Las Fuerzas Armadas Despues del Golpe del 2 y 3 de

Worldwide Report, Nuclear Development and Proliferation No. 186

DTIC Science & Technology

1983-05-03

normality that at first took a great deal of effort to achieve. 33 C___ ACIRC//TO AGUA VAPOR SECUNt/ CMMWMI CU’CTO AG3UA RMFI(3PACION 1. Nucleo del reactor 6...is used to cool various components of the powerplant, but in any case it is separated from possibly contaminated ele- ments by at least two...Central do Asc6 10. Aqua do ref rigeracibn hay 3 generadorea do vapor) (Procedente en este caso del rio Ebro) 4. Presurizador 11. Transformador (Sirve

Determinación astronómica de la Desviación de la Vertical

NASA Astrophysics Data System (ADS)

Pacheco, A. M.; Podestá, R. C.

A partir de las coordenadas astronómicas de Latitud y Longitud determinadas en la falla geológica de Nikizanga ubicada en las serranías de Pie de Palo, y, en base a un Punto Datum de referencia, se desarrolla la metodología para la determinación de la Desviación de la Vertical, que comprende la reducción de las observaciones astronómicas, transformaciones de coordenadas, aplicación de correcciones y el cálculo definitivo de los valores angulares de la Vertical. Estos estudios se iniciaron a sugerencia del Servicio Internacional de Latitud, International Polar Motion Service (IPMS), con el objeto de obtener en determinados puntos de la Tierra la Desviación de la Vertical y su variación, dentro de la nueva disciplina denominada Astrogeodinámica, con la idea de correlacionar estas variaciones con la predicción de grandes sismos.

Composición química de cúmulos globulares galácticos: metalicidades derivadas a partir de fotometría de Washington

NASA Astrophysics Data System (ADS)

Torres, M. C.; Clariá, J. J.

Se presentan temperaturas efectivas y abundancias de 183 gigantes rojas en 7 cúmulos globulares galácticos, derivadas a partir de fotometría de Washington realizada en Cerro Tololo. Las metalicidades provienen de una calibración que tiene en cuenta la disminución de sensibilidad de algunos índices con la temperatura. Los valores medios de [Fe/H] obtenidos oscilan entre -1.2 y -2.15, con errores típicos del orden de 0.2 salvo un par de excepciones. Teniendo en cuenta que el índice (C-T1) es significativamente más sensible a la metalicidad que (V-I), se presenta una calibración de abundancia basada en el color (C-T1)o de la rama gigante roja para una determinada magnitud absoluta M(T1). Las abundancias derivadas confirman en general la escala de Zinn (1985, ApJ, 293, 424).

Nuevas observaciones de 3C10 con el VLA*: estudio de la expansión

NASA Astrophysics Data System (ADS)

Reynoso, E. M.; Moffett, D. A.:; Dubner, G. M.; Giacani, E. B.; Reynolds, S. P.; Goss, W. M.; Dickel, J.

Se presentan nuevos resultados sobre la expansión del remanente de la supernova de Tycho a lo largo de un intervalo de 10.9 años, comparando nuevas observaciones tomadas con el VLA a 1375 y 1635 MHz durante 1994 y 1995, con observaciones previas realizadas entre 1983 y 1984 (Dickel y col. ~1991 AJ 101, 2151), usando las mismas configuraciones, anchos de banda, calibradores y tiempos de integración. El coeficiente de expansión se calcula para sectores radiales de 4o de ancho cada uno, ajustando la correlación cruzada de las derivadas de los perfiles promedio para cada época. A partir de la expansión medida, se estima el índice (parámetro de expansión) de la ley potencial R∝ tm como m≡ d ln R/d ln t . Este valor se compara con coeficientes teóricos para diferentes fases evolutivas de remanentes de supernova.

Fotometría UBVI en NGC 6231

NASA Astrophysics Data System (ADS)

Baume, G. L.; Vázquez, R. A.; Feinstein, A.

Se ha realizado fotometría CCD UBVI en la zona del cúmulo abierto NGC 6231, habiéndose observado 1062 estrellas hasta una magnitud V≈ 19. Esto posibilita tener una imagen clara de la parte inferior de la secuencia principal del cúmulo. Combinando nuestros datos con tipos espectrales tomados de la literatura pudimos re-derivar la ley de absorción en dirección a este cúmulo y encontrar que los valores de R muestran variaciones de estrella a estrella. La secuencia principal inferior muestra también algunos rasgos intrigantes: hay un codo notorio en V≈ 13.5 seguido por un gran ``spread'' de magnitudes a color constante entre las estrellas débiles y una inusualmente alta densidad de estrellas a lo largo de una banda que se extiende 1.5 mag encima de la ZAMS. Los cálculos indican que el número esperado de estrellas de campo en dirección al cúmulo debería ser menor que el observado. Una re-evaluación de las funciones de luminosidad y masa dentro de los límites -7.5 < MV < 1.5 mag y 2 Msolar < M arroja pendientes planas para ambas funciones, lo que parece ser típico de cúmulos muy jóvenes. Todos estos rasgos son congruentes con un escenario joven donde las estrellas en fase de contracción están arribando a la secuencia principal.

Fuentes de variabilidad en el diagnóstico de gastritis atrófica multifocal asociada con la infección por Helicobacter pylori1

PubMed Central

Bravo, Luis Eduardo; Bravo, Juan Carlos; Realpe, José Luis; Zarama, Guillermo; Piazuelo, MarÍa Blanca; Correa, Pelayo

2014-01-01

RESUMEN Introducción El mapeo de las diferentes regiones del estómago y el número de fragmentos de mucosa gástrica disponibles para evaluación histopatológica son fuentes importantes de variación en el momento de clasificar y hacer la gradación de la gastritis crónica. Objetivos Estimar la sensibilidad del número de fragmentos de mucosa gástrica necesarios para establecer los diagnósticos de gastritis atrófica con metaplasia intestinal (MI), displasia y estado de infección por Helicobacter pylori. Además evaluar la variabilidad intra-observador en la clasificación de estas lesiones precursoras del cáncer gástrico. Materiales y métodos En una cohorte de 6 años de seguimiento se evaluaron 1,958 procedimientos de endoscopia realizados por dos gastroenterólogos. En cada procedimiento y de cada participante se obtuvieron 5 biopsias de mucosa gástrica que representaban antro, incisura angularis y cuerpo. Un único patólogo hizo la interpretación histológica de las 5 biopsias y proporcionó un diagnóstico definitivo global que se utilizó como patrón de referencia. Cada fragmento de mucosa gástrica examinado condujo a un diagnóstico individual para cada biopsia que se comparó con el patrón de referencia. La variabilidad intra-observador se evaluó en 127 personas que corresponden a una muestra aleatoria de 20% del total de endoscopias hechas a los 72 meses de seguimiento. Resultados La sensibilidad del diagnóstico de MI y displasia gástrica aumentó de manera significativa con el número de fragmentos de mucosa gástrica evaluados El sitio anatómico de mayor sensibilidad para el diagnóstico de MI y displasia fue la incisura angularis. Para descubrir H. pylori se logró alta sensibilidad con el estudio de un solo fragmento de mucosa gástrica (95.9%) y fue independiente del sitio de obtención de la biopsia. El acuerdo intra-observador para el diagnóstico de gastritis crónica fue 86.1% con valor kappa de 0.79 IC 95% (0.76-0.85). Las biopsias fijadas en alcohol fueron inadecuadas para demostrar H. pylori e interpretar los cambios de displasia. Conclusión El número de fragmentos de mucosa gástrica evaluados, el método de fijación y la región del estómago donde se obtienen las biopsias son factores muy importantes para lograr una correcta clasificación de la gastritis crónica atrófica multifocal. PMID:25267864

A Rice PECTATE LYASE-LIKE Gene Is Required for Plant Growth and Leaf Senescence1[OPEN

PubMed Central

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.

PubMed

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.

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

Como Lo Hago Yo: Defectos Del Cierre Del Tubo Neural En Nicaragua

PubMed Central

Gonzalez, Juan Bosco

2014-01-01

En Nicaragua no hay un plan de forltificación de alimentos con ácido fólico. Las madres son muy jóvenes. En La Mascota operamos mas de cuarenta niños por año. Derivación tardía es un problema. La infección preoperatoria tiene que ser descartada. Vancomicina y Ceftriaxone estan indicadas. Estricta regla de asepsia operatoria. Suturamos la plaqueta para asemejar su forma al cilindro normal de la médula. No ceramos la capa de músculo. PMID:24791221

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gompers, Andrea L.; Su-Feher, Linda; Ellegood, Jacob

The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism. In this paper, we examined the impact of germline heterozygous frameshift Chd8 mutation on neurodevelopment in mice. Chd8 +/ del5 mice displayed normal social interactions with no repetitive behaviors but exhibited cognitive impairment correlated with increased regional brain volume, validating that phenotypes of Chd8 +/ del5 mice overlap pathology reported in humans with CHD8 mutations. We applied network analysis to characterize neurodevelopmental gene expression, revealing widespread transcriptional changes in Chd8 +/ del5 mice across pathways disrupted in neurodevelopmental disorders, including neurogenesis, synaptic processes andmore » neuroimmune signaling. We identified a co-expression module with peak expression in early brain development featuring dysregulation of RNA processing, chromatin remodeling and cell-cycle genes enriched for promoter binding by Chd8, and we validated increased neuronal proliferation and developmental splicing perturbation in Chd8 +/ del5 mice. Finally, this integrative analysis offers an initial picture of the consequences of Chd8 haploinsufficiency for brain development.« less

Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions

PubMed Central

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

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.

PubMed

Kariminejad, Ariana; Kariminejad, Roxana; Moshtagh, Azadeh; Zanganeh, Maryam; Kariminejad, Mohammad Hassan; Neuenschwander, Stefan; Okoniewski, Michal; Wey, Eva; Schinzel, Albert; Baumer, Alessandra

2011-05-01

In this study, we report a familial inversion of chromosome 18, inv(18)(p11.31q21.33), in both members of a consanguineous couple. Their first child had inherited one balanced pericentric inversion along with a recombinant chromosome 18 resulting in dup(18q)/del(18p), and had mild dysmorphic features in the absence of mental and developmental retardation. The second child had received two recombinant chromosomes 18, from the mother a derivative chromosome 18 with dup(18p)/del(18q) and from the father a derivative chromosome 18 with dup(18q)/del(18p). The aberration was prenatally detected; however, as the two opposite aneuploidies were thought to compensate each other, the family decided to carry on with the pregnancy, knowing that uniparental disomy for the segments outside the inversion could have an adverse influence on the development of the child. Uniparental disomy was confirmed by SNP arrays. The child, who has been followed up until the age of 20 months, is healthy and normal. It seems to be the first reported case with two opposite recombinant chromosomes that compensate each other and lead to segmental uniparental disomy for two segments on the chromosome, one maternal and the other paternal.

Manipulating proteostasis to repair the F508del-CFTR defect in cystic fibrosis.

PubMed

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.

Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809

PubMed Central

Van Goor, Fredrick; Hadida, Sabine; Grootenhuis, Peter D. J.; Burton, Bill; Stack, Jeffrey H.; Straley, Kimberly S.; Decker, Caroline J.; Miller, Mark; McCartney, Jason; Olson, Eric R.; Wine, Jeffrey J.; Frizzell, Ray A.; Ashlock, Melissa; Negulescu, Paul A.

2011-01-01

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene that impair the function of CFTR, an epithelial chloride channel required for proper function of the lung, pancreas, and other organs. Most patients with CF carry the F508del CFTR mutation, which causes defective CFTR protein folding and processing in the endoplasmic reticulum, resulting in minimal amounts of CFTR at the cell surface. One strategy to treat these patients is to correct the processing of F508del-CFTR with small molecules. Here we describe the in vitro pharmacology of VX-809, a CFTR corrector that was advanced into clinical development for the treatment of CF. In cultured human bronchial epithelial cells isolated from patients with CF homozygous for F508del, VX-809 improved F508del-CFTR processing in the endoplasmic reticulum and enhanced chloride secretion to approximately 14% of non-CF human bronchial epithelial cells (EC50, 81 ± 19 nM), a level associated with mild CF in patients with less disruptive CFTR mutations. F508del-CFTR corrected by VX-809 exhibited biochemical and functional characteristics similar to normal CFTR, including biochemical susceptibility to proteolysis, residence time in the plasma membrane, and single-channel open probability. VX-809 was more efficacious and selective for CFTR than previously reported CFTR correctors. VX-809 represents a class of CFTR corrector that specifically addresses the underlying processing defect in F508del-CFTR. PMID:21976485

Pelvic floor muscle strength in primiparous women according to the delivery type: cross-sectional study.

PubMed

Mendes, Edilaine de Paula Batista; Oliveira, Sonia Maria Junqueira Vasconcellos de; Caroci, Adriana de Souza; Francisco, Adriana Amorim; Oliveira, Sheyla Guimaraes; Silva, Renata Luana da

2016-08-15

to compare the pelvic floor muscle strength in primiparous women after normal birth and cesarean section, related to the socio-demographic characteristics, nutritional status, dyspareunia, urinary incontinence, perineal exercise in pregnancy, perineal condition and weight of the newborn. this was a cross-sectional study conducted after 50 - 70 postpartum days, with 24 primiparous women who underwent cesarean delivery and 72 who had a normal birth. The 9301 PeritronTM was used for analysis of muscle strength. The mean muscle strength was compared between the groups by two-way analysis of variance. the pelvic floor muscle strength was 24.0 cmH2O (±16.2) and 25.4 cmH2O (±14.7) in postpartum primiparous women after normal birth and cesarean section, respectively, with no significant difference. The muscular strength was greater in postpartum women with ≥ 12 years of study (42.0 ±26.3 versus 14.6 ±7.7 cmH2O; p= 0.036) and in those who performed perineal exercises (42.6±25.4 11.8±4.9 vs. cmH2O; p = 0.010), compared to caesarean. There was no difference in muscle strength according to delivery type regarding nutritional status, dyspareunia, urinary incontinence, perineal condition or newborn weight. pelvic floor muscle strength does not differ between primiparous women based on the type of delivery. Postpartum women with normal births, with higher education who performed perineal exercise during pregnancy showed greater muscle strength. comparar a força muscular do assoalho pélvico em primíparas no pós-parto normal e cesariana, relacionando-a às características sociodemográficas, estado nutricional, incontinência urinária, dispareunia, exercício perineal na gestação, condição perineal e peso do recém-nascido. estudo transversal realizado entre 50 e 70 dias de pós-parto, com 24 primíparas submetidas à cesariana e 72 ao parto normal. Utilizou-se PeritronTM 9301 para análise da força muscular. Comparou-se as médias da força muscular entre os grupos pela Análise de Variância a dois fatores. a força muscular do assoalho pélvico foi de 24,0 cmH2O(±16,2) e 25,4 cmH2O(±14,7) em primíparas pós-parto normal e cesariana, respectivamente, sem diferença significativa. A força muscular foi maior nas mulheres de pós-parto normal com ≥12 anos de estudo (42,0±26,3 versus 14,6±7,7 cmH2O; p=0,036) e que realizaram exercício perineal (42,6±25,4 versus 11,8±4,9 cmH2O; p=0,010), comparadas às de cesariana. Não houve diferença na força muscular segundo o tipo de parto quanto ao estado nutricional, incontinência urinária, dispareunia, condição perineal e peso do recém-nascido. a força muscular do assoalho pélvico não difere entre primíparas quanto ao tipo de parto. Mulheres pós-parto normal com maior escolaridade e que realizaram exercício perineal na gestação, tem maior força muscular. comparar la fuerza muscular del suelo pélvico en primíparas en el posparto normal y cesárea, relacionándola a las características sociodemográficas, estado nutricional, incontinencia urinaria, coito doloroso, ejercicio perineal en la gestación, condición perineal y peso del recién nacido. estudio transversal realizado entre 50 y 70 días de posparto, con 24 primíparas sometidas a cesárea y 72 a parto normal. Se utilizó PeritronTM 9301 para analizar la fuerza muscular. Se compararon los promedios de la fuerza muscular entre los grupos por medio del Análisis de Variancia de dos factores. la fuerza muscular del suelo pélvico fue de 24,0 cmH2O(±16,2) y 25,4 cmH2O(±14,7) en primíparas posparto normal y cesárea, respectivamente, sin diferencia significativa. La fuerza muscular fue mayor en las mujeres de posparto normal con ≥12 años de estudio (42,0±26,3 versus 14,6±7,7 cmH2O; p=0,036) y que realizaron ejercicio perineal (42,6±25,4 versus 11,8±4,9 cmH2O; p=0,010), comparadas con las de cesárea. No hubo diferencia en la fuerza muscular según el tipo de parto en lo que se refiere al estado nutricional, incontinencia urinaria, coito doloroso, condición perineal y peso del recién nacido. la fuerza muscular del suelo pélvico no difiere entre las primíparas en lo que se refiere al tipo de parto. Las mujeres posparto normal con mayor escolaridad y que realizaron ejercicio perineal en la gestación, tienen mayor fuerza muscular.

Valorization of Cereal Based Biorefinery Byproducts: Reality and Expectations

PubMed Central

2013-01-01

The growth of the biobased economy will lead to an increase in new biorefinery activities. All biorefineries face the regular challenges of efficiently and economically treating their effluent to be compatible with local discharge requirements and to minimize net water consumption. The amount of wastes resulting from biorefineries industry is exponentially growing. The valorization of such wastes has drawn considerable attention with respect to resources with an observable economic and environmental concern. This has been a promising field which shows great prospective toward byproduct usage and increasing value obtained from the biorefinery. However, full-scale realization of biorefinery wastes valorization is not straightforward because several microbiological, technological and economic challenges need to be resolved. In this review we considered valorization options for cereals based biorefineries wastes while identifying their challenges and exploring the opportunities for future process. PMID:23931701

Valorization of cereal based biorefinery byproducts: reality and expectations.

PubMed

Elmekawy, Ahmed; Diels, Ludo; De Wever, Heleen; Pant, Deepak

2013-08-20

The growth of the biobased economy will lead to an increase in new biorefinery activities. All biorefineries face the regular challenges of efficiently and economically treating their effluent to be compatible with local discharge requirements and to minimize net water consumption. The amount of wastes resulting from biorefineries industry is exponentially growing. The valorization of such wastes has drawn considerable attention with respect to resources with an observable economic and environmental concern. This has been a promising field which shows great prospective toward byproduct usage and increasing value obtained from the biorefinery. However, full-scale realization of biorefinery wastes valorization is not straightforward because several microbiological, technological and economic challenges need to be resolved. In this review we considered valorization options for cereals based biorefineries wastes while identifying their challenges and exploring the opportunities for future process.

Il ruolo svolto dall’attività lavorativa sull’ipertensione arteriosa

PubMed Central

Barbini, N.; Gorini, G.; Ferrucci, L.; Biggeri, A.

2009-01-01

RIASSUNTO Introduzione I parametri di pressione arteriosa, sistolica (PAS) o diastolica (PAD) hanno costituito I’oggetto di numerosi studi, alcuni dei quali stabiliscono un’associazione tra I’aumnto di tali parametri e la mortalità, in particolare alle età medie. I fattori di rischio di ipertensione più frequentemente studiati sono il consumo di alcol, il fumo e I’origine etnica in riferimento sia alle differenze genetiche che nella condotta alimentare, mentre i fattori di origine professionale sono stati presi in considerazione più raramente e in maniera poco approfondita, inoltre sono state riferite notevoli differenze nelle pressioni arteriose medie di individui che svolgono professioni diverse. Sembra infatti che i “colletti blu” siano più a rischio dei “colletti bianchi”. Obiettivi Il nostro scopo è valutare se determinati rischi o vincoli connessi con l’attività professionale o determinati stili di vita rappresentano un fattore di rischio per l’ipertensione arteriosa in considerazioni dell’aumentare dell’età. Elementi specifici che rendano conto di questa relazione non sono stati ancora completamente chiariti e soprattutto i dati sulla popolazione italiana sono molto limitati. Metodi La metodologia di ricerca utilizzata è stata quella dell’indagine francese ESTEV (Derriennic, Touranchet, Volkoff) - VISAT (Marquie, Janson), studio epidemiologico longitudinale su oltre 23000 lavoratori attivata in Francia nel 1990 al fine di indagare gli effetti a lungo termine delle condizioni di lavoro, riferite all’intera vita professionale, sia sull’invecchiamento sia sulla salute dei lavoratori. Analoga indagine è stata avviata in Italia, nel 2000, in 6 Regioni, prendendo in esame i lavoratori dipendenti di diversi settori produttivi appartenenti a 5 coorti di età: da 32 a 52 anni con intervallo di 5 anni. Le rilevazioni sono state effettuate dai medici del lavoro di azienda attraverso 3 questionari: 1. sulle condizioni professionali (esposizione a determinati rischi o vincoli); 2. sugli stili di vita e la salute percepita secondo il Nottingham Health Profile; 3. sulle condizioni oggettive di salute. Per il presente lavoro saranno considerati solo alcuni parametri utili all’approfondimento epidemiologico nel settore cardiocircolatorio. Essi riguarderanno: 1) le condizioni di lavoro, 2) la valutazione soggettiva del lavoro, 3) costrizioni specifiche del lavoro vissute come più gravose con l’avanzare dell’età. Relativamente all’ipertensione, sono stati considerati ipertesi i soggetti che presentavano una PAS ≥160 mm/Hg e/o una PAD ≥90 mm/Hg nonché coloro in cura antipertensiva. Risultati I risultati si riferiscono a 1104 lavoratori, di cui 76% uomini e 24% donne. La prevalenza di ipertensione si è dimostrata più elevata nei maschi (33% Vs 22%). Le stime del rischio hanno evidenziato una associazione statisticamente significativa con alcuni fattori lavorativi come mantenere posture difficili (O.R. 1.71), lavorare in presenza di calore (O.R. 1.43), a contatto con agenti chimici (O.R, 1.31). stare a lungo seduti (O.R. 1.48), fare più cose contemporaneamente (O.R. 1.41), essere interrotti nel proprio lavoro (O.R. 1,35). non poter distogilere gli occhi dal lavoro (O.R.1.61). Conclusioni Noi abbiamo osservato che alcune caratteristiche fisiche del lavoro, ma soprattutto quelle di tipo organizzativo sono fortemente associate all’ipertensione arteriosa. Un elemento importante è sembrata la valutazione soggettiva del valore che i lavoratori danno del proprio lavoro: tale elemento è fortemente connesso con I’organizzazione del lavoro, pertanto è un possibile target di prevenzione (fattore di rischio modificabile). PMID:17886759

Critical design of heterogeneous catalysts for biomass valorization: current thrust and emerging prospects

DOE PAGES

De, Sudipta; Dutta, Saikat; Saha, Basudeb

2016-01-01

Catalysis in the heterogeneous phase plays a crucial role in the valorization of biorenewable substrates with controlled reactivity, efficient mechanical process separation, greater recyclability and minimization of environmental effects.

Diagnosis of compliance of health care product processing in Primary Health Care.

PubMed

Roseira, Camila Eugenia; Silva, Darlyani Mariano da; Passos, Isis Pienta Batista Dias; Orlandi, Fabiana Souza; Padoveze, Maria Clara; Figueiredo, Rosely Moralez de

2016-11-21

identify the compliance of health care product processing in Primary Health Care and assess possible differences in the compliance among the services characterized as Primary Health Care Service and Family Health Service. quantitative, observational, descriptive and inferential study with the application of structure, process and outcome indicators of the health care product processing at ten services in an interior city of the State of São Paulo - Brazil. for all indicators, the compliance indices were inferior to the ideal levels. No statistically significant difference was found in the indicators between the two types of services investigated. The health care product cleaning indicators obtained the lowest compliance index, while the indicator technical-operational resources for the preparation, conditioning, disinfection/sterilization, storage and distribution of health care products obtained the best index. the diagnosis of compliance of health care product processing at the services assessed indicates that the quality of the process is jeopardized, as no results close to ideal levels were obtained at any service. In addition, no statistically significant difference in these indicators was found between the two types of services studied. identificar a conformidade do processamento de produtos para saúde na Atenção Primária à Saúde e avaliar possível diferença na conformidade entre as unidades caracterizadas como Unidade Básica de Saúde e Unidade Saúde da Família. estudo quantitativo, observacional, descritivo e inferencial, com a aplicação de indicadores de estrutura, processo e resultado referentes ao processamento de produtos para a saúde em dez unidades, de um município do interior de São Paulo - Brasil. todos os indicadores obtiveram índice de conformidade inferior ao ideal. Não houve diferença estatisticamente significante nos indicadores entre os dois tipos de unidades investigadas, sendo o indicador de limpeza de produtos para saúde o de menor índice de conformidade, enquanto indicador de recursos técnico-operacionais para preparo, acondicionamento, desinfecção/esterilização, guarda e distribuição de produtos para saúde, o de melhor índice. o diagnóstico de conformidade do processamento de produtos para saúde nas unidades avaliadas indica comprometimento da qualidade do processo, uma vez que não foram obtidos resultados próximos ao valor ideal em nenhuma unidade. Além disso, não houve diferença estatisticamente significante desses indicadores entre os dois tipos de unidades estudadas. identificar la conformidad del procesamiento de productos para la salud en la Atención Primaria a la Salud y evaluar una posible diferencia en la conformidad entre las unidades caracterizadas: Unidad Básica de Salud y Unidad Salud de la Familia. estudio cuantitativo, observacional, descriptivo e inferencial; se aplicaron indicadores de estructura, proceso y resultado, referentes al procesamiento de productos para la salud en diez unidades de un municipio del interior de Sao Paulo, Brasil. todos los indicadores obtuvieron índice de conformidad inferior a lo ideal. No hubo diferencia estadísticamente significativa de los indicadores entre los dos tipos de unidades investigadas, siendo el indicador de limpieza de productos para la salud el de menor índice de conformidad; por otro lado, como indicador de recursos técnico-operacionales para preparación, acondicionamiento, desinfección/esterilización, almacenamiento y distribución de productos para la salud, fue el de mejor índice. el diagnóstico de conformidad del procesamiento de productos para la salud en las unidades evaluadas indica que está comprometida la calidad del proceso, ya que no fueron obtenidos resultados próximos al valor ideal en ninguna unidad. Además de eso, no hubo diferencia estadísticamente significativa de esos indicadores entre los dos tipos de unidades estudiadas.

CDC25AQ110del: A Novel Cell Division Cycle 25A Isoform Aberrantly Expressed in Non-Small Cell Lung Cancer

PubMed Central

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

La historia orbital de Deimos y la oblicuidad de Marte

NASA Astrophysics Data System (ADS)

Brunini, A.; Yokoyama, T.

Recientemente, se ha demostrado mediante extensas integraciones numéricas, que la rotación de Marte pasó repetidamente por estados caóticos de movimiento, debido al pasaje por zonas de resonancia spin - órbita. En dichas circunstancias, la oblicuidad marciana pudo haber sufrido grandes excursiones de varias decenas de grados. Las consecuencias de dichas variaciones son de extrema importancia en el contexto de la búsqueda de manifestaciones de vida fósil en dicho planeta. El estudio de la dinámica orbital del satélite más exterior de Marte, Deimos, nos ha permitido comprobar, en el marco de las distintas teorías sobre su orígen, que la oblicuidad de Marte dificilmente pudo haber sufrido variaciones que la aparten más de 10o respecto de actual valor. Este resultado parece ser mucho más robusto que las simulaciones numéricas de Touma y Wisdom asi como las de Laskar y Robutel, lo que permite poner cotas más severas a la evolución paleoclimática de Marte.

Development of green extraction processes for Nannochloropsis gaditana biomass valorization.

PubMed

Sánchez-Camargo, Andrea Del Pilar; Pleite, Natalia; Mendiola, José Antonio; Cifuentes, Alejandro; Herrero, Miguel; Gilbert-López, Bienvenida; Ibáñez, Elena

2018-04-23

In the present work, the valorization of Nannochloropsis gaditana biomass is proposed within the concept of biorefinery. To this aim, high-pressure homogenization (HPH) was used to break down the strong cell wall and supercritical fluid extraction (SFE) with pure CO 2 was applied as a first step to extract valuable compounds (such as non-polar lipids and pigments). Extraction of the remaining residue for the recovery of bioactive compounds was studied by means of an experimental design based on response surface methodology (RSM) employing pressurized liquid extraction (PLE) with green solvents such as water and ethanol. Optimum extract was achieved with pure ethanol at 170°C for 20 min, providing an important antioxidant capacity (0.72 ± 0.03 mmol trolox eq g -1 extract). Complete chemical characterization of the optimum extract was carried out by using different chromatographic methods such as reverse-phase high-performance liquid chromatography with diode array detection (RP-HPLC-DAD), normal-phase HPLC with evaporative light scattering detection (NP-HPLC-ELSD) and gas chromatography coupled to mass spectrometry detection (GC-MS); carotenoids (e.g. violaxanthin), chlorophylls and polar lipids were the main compounds observed while palmitoleic, palmitic, myristic acids and the polyunsaturated eicosapentanoic (EPA) acid were the predominant fatty acids in all PLE extracts. © 2018 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Delphinidin, a dietary antioxidant, induces human epidermal keratinocyte differentiation but not apoptosis: studies in submerged and three-dimensional epidermal equivalent models.

PubMed

Chamcheu, Jean Christopher; Afaq, Farrukh; Syed, Deeba N; Siddiqui, Imtiaz A; Adhami, Vaqar M; Khan, Naghma; Singh, Sohinderjit; Boylan, Brendan T; Wood, Gary S; Mukhtar, Hasan

2013-05-01

Delphinidin (Del), [3,5,7,3'-,4'-,5'-hexahydroxyflavylium], an anthocyanidin and a potent antioxidant abundantly found in pigmented fruits and vegetables exhibits proapoptotic effects in many cancer cells. Here, we determined the effect of Del on growth, apoptosis and differentiation of normal human epidermal keratinocytes (NHEKs) in vitro in submerged cultures and examined its effects in a three-dimensional (3D) epidermal equivalent (EE) model that permits complete differentiation reminiscent of in vivo skin. Treatment of NHEKs with Del (10-40 μm; 24-48 h) significantly enhanced keratinocyte differentiation. In Del-treated cells, there was marked increase in human involucrin (hINV) promoter activity with simultaneous increase in the mRNA and protein expressions of involucrin and other epidermal differentiation markers including procaspase-14 and transglutaminase-1 (TGM1), but without any effect on TGM2. Del treatment of NHEKs was associated with minimal decrease in cell viability, which was not associated with apoptosis as evident by lack of modulation of caspases, apoptosis-related proteins including Bcl-2 family of proteins and poly(ADP-ribose) polymerase cleavage. To establish the in vivo relevance of our observations in submerged cultures, we then validated these effects in a 3D EE model, where Del was found to significantly enhance cornification and increase the protein expression of cornification markers including caspase-14 and keratin 1. For the first time, we show that Del induces epidermal differentiation using an experimental system that closely mimics in vivo human skin. These observations suggest that Del could be a useful agent for dermatoses associated with epidermal barrier defects including aberrant keratinization, hyperproliferation or inflammation observed in skin diseases like psoriasis and ichthyoses. © 2013 John Wiley & Sons A/S.

Germline Chd8 haploinsufficiency alters brain development in mouse

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gompers, Andrea L.; Su-Feher, Linda; Ellegood, Jacob

The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism. In this paper, we examined the impact of germline heterozygous frameshift Chd8 mutation on neurodevelopment in mice. Chd8 +/ del5 mice displayed normal social interactions with no repetitive behaviors but exhibited cognitive impairment correlated with increased regional brain volume, validating that phenotypes of Chd8 +/ del5 mice overlap pathology reported in humans with CHD8 mutations. We applied network analysis to characterize neurodevelopmental gene expression, revealing widespread transcriptional changes in Chd8 +/ del5 mice across pathways disrupted in neurodevelopmental disorders, including neurogenesis, synaptic processes andmore » neuroimmune signaling. We identified a co-expression module with peak expression in early brain development featuring dysregulation of RNA processing, chromatin remodeling and cell-cycle genes enriched for promoter binding by Chd8, and we validated increased neuronal proliferation and developmental splicing perturbation in Chd8 +/ del5 mice. Finally, this integrative analysis offers an initial picture of the consequences of Chd8 haploinsufficiency for brain development.« less

Identification of Genetic Defects Underlying FXII Deficiency in Four Unrelated Chinese Patients.

PubMed

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.

Germline Chd8 haploinsufficiency alters brain development in mouse

DOE PAGES

Gompers, Andrea L.; Su-Feher, Linda; Ellegood, Jacob; ...

2017-06-26

The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism. In this paper, we examined the impact of germline heterozygous frameshift Chd8 mutation on neurodevelopment in mice. Chd8 +/ del5 mice displayed normal social interactions with no repetitive behaviors but exhibited cognitive impairment correlated with increased regional brain volume, validating that phenotypes of Chd8 +/ del5 mice overlap pathology reported in humans with CHD8 mutations. We applied network analysis to characterize neurodevelopmental gene expression, revealing widespread transcriptional changes in Chd8 +/ del5 mice across pathways disrupted in neurodevelopmental disorders, including neurogenesis, synaptic processes andmore » neuroimmune signaling. We identified a co-expression module with peak expression in early brain development featuring dysregulation of RNA processing, chromatin remodeling and cell-cycle genes enriched for promoter binding by Chd8, and we validated increased neuronal proliferation and developmental splicing perturbation in Chd8 +/ del5 mice. Finally, this integrative analysis offers an initial picture of the consequences of Chd8 haploinsufficiency for brain development.« less

Photometric behavior and general characteristics of the nova HR Delphini

NASA Astrophysics Data System (ADS)

Raikova, D.

The light curve and the B-V color-index curve of HR Del were constructed on the basis of published UBV observations. From the normal color indices, the effective photosphere temperature and radius were determined using calibrations for normal stars. As the brightness reached its peak, the effective photosphere was expanding with a velocity of approximately 23 km/s, which is more than 10 times less than the gas velocity. This phenomenon is explained by decreasing continuous opacity as the ejected gas expands.

Mutation and new polymorphisms insight in introns 11 to 14a of CFTR gene of northern Iranian cystic fibrosis patients.

PubMed

Esmaeili Dooki, Mohammad Reza; Tabaripour, Reza; Rahimi, Razieh; Akhavan-Niaki, Haleh

2015-06-15

Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians, caused by mutation in cystic fibrosis transmembrane conductance regulator (CFTR). The type and distribution of mutations vary widely between different countries and ethnic groups. We therefore aimed to perform a comprehensive analysis of the CFTR gene in northern Iranian CF patients. Forty northern Iranian CF patients were analyzed for mutations in introns 11 to 14a of their CFTR genes, using sequencing and reverse dot blot methods. Five normal subjects were also analyzed as normal control. One mutation and seven polymorphisms were identified. Of the eighty alleles studied, c.2043delG in exon 13 represented 12.5% of mutant alleles and was associated with two distinct haplotypes. rs1042077T>G, rs4148712delAT, rs4148711T>A and rs3808183 T>C with frequencies varying between 29.2% and 6.9% for the least common allele, as well as three new polymorphisms c.1680-224C>A (11.1%), c.2491-275T>G (14.1%) and c.2491-274C>G (35.9%) were detected. These findings suggest a founder effect for c.2043delG in the Middle East and will assist in genetic counseling, prenatal diagnosis and future screening of CF in Iran. Copyright © 2015 Elsevier B.V. All rights reserved.

Analysis of density and epitopes of D antigen on the surface of erythrocytes from DEL phenotypic individuals carrying the RHD1227A allele.

PubMed

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.

Matuyama-age lithic tools from the Sima del Elefante site, Atapuerca (northern Spain).

PubMed

Parés, Josep M; Pérez-González, Alfredo; Rosas, Antonio; Benito, A; Bermúdez de Castro, J M; Carbonell, E; Huguet, R

2006-02-01

Paleomagnetic results obtained from the sedimentary fill at the Sima del Elefante site in Atapuerca, Spain, reveal a geomagnetic reversal, interpreted as the Matuyama-Brunhes boundary (0.78 Ma). The uppermost lithostratigraphic units (E17 through E19), which contain Mode II and III archaeological assemblages, display normal polarity magnetization, whereas the six lowermost units (E9 through E16) yield negative latitudinal virtual geomagnetic pole positions. Units E9 through E13, all of which display reverse magnetic polarity, contain Mode I (Oldowan) lithic tools, testifying to the presence of humans in the early Pleistocene (0.78-1.77 Ma).

Medición de los parámetros cosmológicos q0, ΩM, y ΩΛ, usando supernovas de Tipo Ia distantes

NASA Astrophysics Data System (ADS)

Clocchiatti, A.; High-Z Sne Search Team

Las supernovas de tipo Ia son una herramienta de gran precisión para la medición de distancias de interés cosmológico. Los métodos recientes de calibración de su luminosidad intrínseca, que hacen uso de la forma de las curvas de luz en varios colores y permiten diferenciar entre supernovas distantes, intrínsecamente débiles, u oscurecidas por extinción, reducen la dispersión del método que las asume de magnitud absoluta constante de 0.50 mag a 0.15 mag, e incrementa el valor de la constante de Hubble de ~55 km s-1 Mpc-1, a 65 km s-1 Mpc-1. A partir de la calibración de las supernovas cercanas, con redshifts menores que 0.1, se pueden obtener distancias precisas a supernovas que explotan a alto redshift. Hemos aplicado estos métodos a 16 supernovas con 0.16 < Z < 0.97, encontrando que sus distancias son, en promedio, entre 10% y 13% (dependiendo del método empleado) mayores que las que uno esperaría en un universo con poca masa (Ω = 0.2), sin una constante cosmológica. Todos los métodos de ajuste de curvas de luz, y selección de subgrupos de la muestra de supernovas observadas, favorecen consistentemente modelos del universo que se expanden eternamente y que tienen una constante cosmológica positiva (ΩΛ > 0), y una aceleración de la expansión al presente (q0 < 0). Hay distintas fuentes de posibles errores sistemáticos que merecen ser analizadas, entre ellas: evolución de la metalicidad y estrellas progenitoras, extinción, bias en la elección de la muestra, amplificación por gravitational lensing, y contaminación de la muestra. Ninguno de estos efectos alcanza para reconciliar los datos con ΩΛ = 0, o q0 > 0.

Eficacia de la detección sistemática de la gripe en las fronteras en los viajeros que llegan por vía aérea*

PubMed Central

Priest, Patricia C.; Jennings, Lance C.; Duncan, Alasdair R.; Brunton, Cheryl R.; Baker, Michael G.

2015-01-01

Objetivos. Se midieron los síntomas y la prevalencia de la gripe (también llamada influenza), así como la eficacia del mecanismo de detección sistemática basado en los síntomas y la temperatura para diagnosticar la gripe en viajeros internacionales que llegaban por vía aérea. Métodos. El presente estudio transversal recopiló datos de viajeros que llegaron al aeropuerto internacional de Christchurch (Nueva Zelandia) en el invierno del 2008 mediante un cuestionario de salud, medición de la temperatura y toma de muestras de las vías respiratorias. Resultados. De los viajeros, 15 976 (68%) entregaron los formularios completos. De ellos, 17% notificaron al menos un síntoma de gripe; los síntomas más comunes fueron rinorrea o congestión nasal (10%) y tos (8%). Se tomaron muestras de las vías respiratorias de 3 769 viajeros. La prevalencia estimada de la gripe fue de 1,1% (4% en las personas sintomáticas, 0,2% en las asintomáticas). La sensibilidad de los criterios de detección varió de 84% para “cualquier síntoma” a 3% para la fiebre de 37,8 °C o mayor. El valor predictivo positivo fue bajo para todos los criterios. Conclusiones. El método de detección sistemática en las fronteras mediante la autonotificación de síntomas y la toma de la temperatura presenta limitaciones para impedir que una gripe pandémica entre en un país. Basarse en criterios como “cualquier síntoma” o la tos haría que se investigara a varias personas no infectadas, mientras que algunas personas infectadas pasarían inadvertidas. Si se usaran criterios más específicos como la fiebre, la mayoría de las personas infectadas entrarían en el país a pesar del mecanismo de detección.

Trends in food waste valorization for the production of chemicals, materials and fuels: Case study South and Southeast Asia.

PubMed

Ong, Khai Lun; Kaur, Guneet; Pensupa, Nattha; Uisan, Kristiadi; Lin, Carol Sze Ki

2018-01-01

Staggering amounts of food waste are being generated in Asia by means of agricultural processing, food transportation and storage, and human food consumption activities. This along with the recent sustainable development goals of food security, environmental protection, and energy efficiency are the key drivers for food waste valorization. The aim of this review is to provide an insight on the latest trends in food waste valorization in Asian countries such as India, Thailand, Singapore, Malaysia and Indonesia. Landfilling, incineration, and composting are the first-generation food waste processing technologies. The advancement of valorisation alternatives to tackle the food waste issue is the focus of this review. Furthermore, a series of examples of key food waste valorization schemes in this Asian region as case studies to demonstrate the advancement in bioconversions in these countries are described. Finally, important legislation aspects for food waste disposal in these Asian countries are also reported. Copyright © 2017 Elsevier Ltd. All rights reserved.

The valorization of the plastic waste to the rheological characteristics of bituminous mixtures

NASA Astrophysics Data System (ADS)

Boucherba, Mohammed; Kriker, Abdelouahed; Kebaili, Nabil

2017-02-01

The valorization of materials used at the end of the cycle currently constitutes one of the major challenges for the state for the safeguarding of the environment. Indeed, plastic waste from their obstruction and weak biodegradability often constitutes a threat for health, nature and the environment. The present study treats a mining method and valorization of these wastes in the road, where this waste is incorporated in the pure bitumen of asphalt concretes using the Dry process. The vital objective of this work is to see their impact on the mechanical behavior of these concretes using the Marshall Test and NAT.

A comprehensive dairy valorization model.

PubMed

Banaszewska, A; Cruijssen, F; van der Vorst, J G A J; Claassen, G D H; Kampman, J L

2013-02-01

Dairy processors face numerous challenges resulting from both unsteady dairy markets and some specific characteristics of dairy supply chains. To maintain a competitive position on the market, companies must look beyond standard solutions currently used in practice. This paper presents a comprehensive dairy valorization model that serves as a decision support tool for mid-term allocation of raw milk to end products and production planning. The developed model was used to identify the optimal product portfolio composition. The model allocates raw milk to the most profitable dairy products while accounting for important constraints (i.e., recipes, composition variations, dairy production interdependencies, seasonality, demand, supply, capacities, and transportation flows). The inclusion of all relevant constraints and the ease of understanding dairy production dynamics make the model comprehensive. The developed model was tested at the international dairy processor FrieslandCampina (Amersfoort, the Netherlands). The structure of the model and its output were discussed in multiple sessions with and approved by relevant FrieslandCampina employees. The elements included in the model were considered necessary to optimally valorize raw milk. To illustrate the comprehensiveness and functionality of the model, we analyzed the effect of seasonality on milk valorization. A large difference in profit and a shift in the allocation of milk showed that seasonality has a considerable impact on the valorization of raw milk. Copyright © 2013 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Application of life-cycle assessment (LCA) methodology for valorization of building demolition materials and products

NASA Astrophysics Data System (ADS)

Sara, Balazs; Antonini, Ernesto; Tarantini, Mario

2001-02-01

The VAMP project (VAlorization of building demolition Materials and Products, LIFE 98/ENV/IT/33) aims to build an effective and innovative information system to support decision making in selective demolition activity and to manage the valorization (recovery-reuse-recycling) of waste flows produced by the construction and demolition (C&D) sector. The VAMP information system will be tested it in Italy in some case studies of selective demolition. In this paper the proposed demolition-valorization system will be compared to the traditional one in a life cycle perspective, applying LCA methodology to highlight the advantages of VAMP system from an eco-sustainability point of view. Within the system boundaries demolition processes, transport of demolition wastes and its recovery/treatment or disposal in landfill were included. Processes avoided due to reuse-recycling activities, such as extraction of natural resources and manufacture of building materials and components, were considered too. In this paper data collection procedure applied in inventory and impact assessment phases and a general overview about data availability for LCA studies in this sector are presented. Results of application of VAMP methodology to a case study are discussed and compared with a simulated traditional demolition of the same building. Environmental advantages of VAMP demolition-valorization system are demonstrated quantitatively emphasizing the special importance of reuse of building components with high demand of energy for manufacture.

Valor Collegiate Academies

ERIC Educational Resources Information Center

EDUCAUSE, 2015

2015-01-01

The four guiding principles behind the blended, competency-based, personalized learning model of Valor Collegiate Academies, a charter organization serving grades 5-12 in Nashville, TN: (1) Reflect the diversity of both our country and local community; (2) Personalize a student's experience to meet his/her unique academic and non-academic needs;…

Sentido de coherencia y mapa de activos para la salud en jóvenes presos de la Comunidad Valenciana en España.

PubMed

Vera-Remartínez, Enrique J; Paredes-Carbonell, Joan J; Aviñó Juan-Ulpiano, Dory; Jiménez-Pérez, Mercedes; Araujo Pérez, Rosa; Agulló-Cantos, José M; Mora Notario, Almudena

2017-09-01

Estudio realizado desde el enfoque de la salutogénesis que pretende determinar el sentido de coherencia (SOC) en jóvenes presos de la Comunidad Valenciana en España y elaborar un mapa de activos para la salud dirigido a promover la salud en esta población. Se utilizó el test "SOC-13" y un cuestionario de preguntas abiertas elaborado ad hoc, el cual autocompletaron los internos de 18 a 22 años de edad, de los tres centros penitenciarios de la región. Participaron 124 jóvenes varones (ya que no había ninguna mujer) y se recogieron variables sociodemográficas y penitenciarias. En el análisis cuantitativo, las variables categóricas se expresaron como frecuencias absolutas y relativas; y las cuantitativas, mediante medias con intervalos de confianza (IC) al 95%. Se realizó un estudio comparativo bivariante, utilizando las siguientes pruebas: Student t-test, análisis de variación (ANOVA), Wilcoxon y Ji-cuadrado. Del cuestionario de preguntas abiertas, se realizó un análisis cualitativo descriptivo temático de los activos identificados, clasificándolos en: internos (recursos personales, en relación con los demás y capacidad para realizar comportamientos saludables) y externos (personas, grupos, instituciones y espacios físicos, situados tanto dentro como fuera de prisión). La edad media fue de 21,1 años (IC 95%: 20,8-21,3); y el SOC de 52,4 (IC 95%: 50,5-54,3), de entre un valor mínimo de 13 y máximo de 91 para la prueba. Los internos del centro penitenciario que ofrecía más actividades escolares y deportivas obtuvieron una puntuación mayor en la dimensión de significatividad del SOC ( p = 0,024), y los internos inmigrantes presentaron un SOC superior ( p = 0,037) a los españoles, en los tres centros. Los jóvenes identificaron los activos internos que cualitativamente se vinculan con las dimensiones de comprensibilidad, manejabilidad y significatividad del SOC; y los activos externos, sobre todo los amigos, familiares y espacios relacionados con la actividad físico-deportiva, tanto dentro como fuera de prisión. Estos activos y sus interrelaciones podrían incorporarse al diseño de futuras intervenciones de promoción de la salud.

Oral Ezatiostat HCl (TLK199) and Myelodysplastic syndrome: a case report of sustained hematologic response following an abbreviated exposure.

PubMed

Quddus, Fahd; Clima, Jessica; Seedham, Helen; Sajjad, Ghulam; Galili, Naomi; Raza, Azra

2010-04-23

Treatment options for patients with lower risk non-del(5q) myelodysplastic syndromes (MDS) who fail erythroid stimulating agents are restricted to one of the hypomethylating drugs with an expected response rate of approximately 50%. Ezatiostat HCl, an agent with the potential for producing multi-lineage responses in this population is currently in clinical investigation phase. This case report describes a 77 year old male who received less than two cycles of therapy with ezatiostat HCl which had to be aborted due to intolerable side effects, but which produced a sustained normalization of all three blood counts. This trilineage response has now lasted for more than a year. Interestingly, the patient began with a del(5q) abnormality and responded briefly to lenalidomide. Upon relapse of the anemia, a bone marrow showed the disappearance of the del(5q) but the appearance of a new clonal abnormality t(2;3). Given that the patient had a complete cytogenetic response to a truncated exposure to lenalidomide followed by a trilineage response to an even briefer course of ezatiostat HCl suggests a potential role for ezatiostat HCl in del(5q) patients who relapse following lenalidomide.

Oral Ezatiostat HCl (TLK199) and Myelodysplastic syndrome: A case report of sustained hematologic response following an abbreviated exposure

PubMed Central

2010-01-01

Treatment options for patients with lower risk non-del(5q) myelodysplastic syndromes (MDS) who fail erythroid stimulating agents are restricted to one of the hypomethylating drugs with an expected response rate of ~50%. Ezatiostat HCl, an agent with the potential for producing multi-lineage responses in this population is currently in clinical investigation phase. This case report describes a 77 year old male who received less than two cycles of therapy with ezatiostat HCl which had to be aborted due to intolerable side effects, but which produced a sustained normalization of all three blood counts. This trilineage response has now lasted for more than a year. Interestingly, the patient began with a del(5q) abnormality and responded briefly to lenalidomide. Upon relapse of the anemia, a bone marrow showed the disappearance of the del(5q) but the appearance of a new clonal abnormality t(2;3). Given that the patient had a complete cytogenetic response to a truncated exposure to lenalidomide followed by a trilineage response to an even briefer course of ezatiostat HCl suggests a potential role for ezatiostat HCl in del(5q) patients who relapse following lenalidomide. PMID:20416051

Characterization of nasal potential difference in cftr knockout and F508del-CFTR mice.

PubMed

Saussereau, Emilie Lyne; Roussel, Delphine; Diallo, Siradiou; Debarbieux, Laurent; Edelman, Aleksander; Sermet-Gaudelus, Isabelle

2013-01-01

Treatments designed to correct cystic fibrosis transmembrane conductance regulator (CFTR) defects must first be evaluated in preclinical experiments in the mouse model of cystic fibrosis (CF). Mice nasal mucosa mimics the bioelectric defect seen in humans. The use of nasal potential difference (V(TE)) to assess ionic transport is a powerful test evaluating the restoration of CFTR function. Nasal V(TE) in CF mice must be well characterized for correct interpretation. We performed V(TE) measurements in large-scale studies of two mouse models of CF--B6;129 cftr knockout and FVB F508del-CFTR--and their respective wild-type (WT) littermates. We assessed the repeatability of the test for cftr knockout mice and defined cutoff points distinguishing between WT and F508del-CFTR mice. We determined the typical V(TE) values for CF and WT mice and demonstrated the existence of residual CFTR activity in F508del-CFTR mice. We characterized intra-animal variability in B6;129 mice and defined the cutoff points for F508del-CFTR chloride secretion rescue. Hyperpolarization of more than -2.15 mV after perfusion with a low-concentration Cl(-) solution was considered to indicate a normal response. These data will make it possible to interpret changes in nasal V(TE) in mouse models of CF, in future preclinical studies.

Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).

PubMed

Beneyto, M M; Cuevas, J M; Millán, J M; Espinós, C; Mateu, E; González-Cabo, P; Baiget, M; Doménech, M; Bernal, S; Ayuso, C; García-Sandoval, B; Trujillo, M J; Borrego, S; Antiñolo, G; Carballo, M; Nájera, C

2000-06-01

The Usher syndrome (USH) is a group of autosomal recessive diseases characterized by congenital sensorineural hearing loss and retinitis pigmentosa. Three clinically distinct forms of Usher syndrome have so far been recognized and can be distinguished from one another by assessing auditory and vestibular function. Usher syndrome type II (USH2) patients have congenital moderate-to-severe nonprogressive hearing loss, retinitis pigmentosa, and normal vestibular function. Genetic linkage studies have revealed genetic heterogeneity among the three types of USH, with the majority of USH2 families showing linkage to the USH2A locus in 1q41. The USH2A gene (MIM 276901) has been identified: three mutations, 2314delG, 2913delG, and 4353-54delC, were initially reported in USH2A patients, the most frequent of which is the 2314delG mutation. It has been reported that this mutation can give rise to typical and atypical USH2 phenotypes. USH2 cases represent 62% of all USH cases in the Spanish population, and 95% of these cases have provided evidence of linkage to the USH2A locus. In the present study, the three reported mutations were analyzed in 59 Spanish families with a diagnosis of USH type II. The 2314delG was the only mutation identified in our population: it was detected in 25% of families and 16% of USH2 chromosomes analyzed. This study attempts to estimate the prevalence of this common mutation in a homogeneous Spanish population.

Complete genome sequences of slostridium perfringens strain del1 isolated from necrotic enteritis-afflicted chicken farm

USDA-ARS?s Scientific Manuscript database

Background: Clostridium perfringens (CP) is ubiquitous in the nature. It is a normal inhabitant in the intestinal tracts of animals and human. As the primary etiological agent of gas gangrene, necrosis and bacteremia, CP causes food poisoning, necrotic enteritis (NE), and even death. Recent omics ...

76 FR 37375 - Meeting of the Public Safety Officer Medal of Valor Review Board

Federal Register 2010, 2011, 2012, 2013, 2014

2011-06-27

... INFORMATION: The Public Safety Officer Medal of Valor Review Board carries out those advisory functions... who wish to participate must register at least seven (7) days in advance of the meeting/conference... registration. Anyone requiring special accommodations should contact Mr. Joy at least seven (7) days in advance...

VALORATE: fast and accurate log-rank test in balanced and unbalanced comparisons of survival curves and cancer genomics.

PubMed

Treviño, Victor; Tamez-Pena, Jose

2017-06-15

The association of genomic alterations to outcomes in cancer is affected by a problem of unbalanced groups generated by the low frequency of alterations. For this, an R package (VALORATE) that estimates the null distribution and the P -value of the log-rank based on a recent reformulation is presented. For a given number of alterations that define the size of survival groups, the log-rank density is estimated by a weighted sum of conditional distributions depending on a co-occurrence term of mutations and events. The estimations are accurately accelerated by sampling across co-occurrences allowing the analysis of large genomic datasets in few minutes. In conclusion, the proposed VALORATE R package is a valuable tool for survival analysis. The R package is available in CRAN at https://cran.r-project.org and in http://bioinformatica.mty.itesm.mx/valorateR . vtrevino@itesm.mx. Supplementary data are available at Bioinformatics online. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com

Confirmatory factor analysis of the Appraisal of Self-Care Agency Scale - Revised.

PubMed

Stacciarini, Thaís Santos Guerra; Pace, Ana Emilia

2017-01-30

to analyze the factor structure of the Appraisal of Self-Care Agency Scale-Revised (ASAS-R), adapted for Brazil. methodological study conducted with 150 individuals with diabetes mellitus cared for by the Family Health Strategy, most of whom are elderly with low educational levels. The test of the hypothesis concerning the confirmatory factor composition of the ASAS-R was performed using latent variables structural equations. the model's goodness-of-fit indexes were satisfactory (χ2 = 259.19; χ2/g.l = 2.97, p < 0.001; GFI = 0.85; RMR = 0.07; RMSEA = 0.09); the factor loads were greater than 0.40; and most item-to-factor-correlations presented moderate to strong magnitude (0.34 to 0.58); total alpha value was 0.74, while the alpha of the three factors were 0.69, 0.38 and 0.69, respectively. the scale's factor structure presented satisfactory validity and reliability results, with the exception of one factor. Application of this scale to samples of the general population is desirable in order to strengthen analyses of internal consistency and the dimensionality of the factor structure. This study is expected to contribute to further studies addressing the self-care agency construct and the development of the ASAS-R. analisar a estrutura fatorial da escala de avaliação da capacidade de autocuidado, Appraisal of Self Care Agency Scale-Revised (ASAS-R), adaptada no Brasil. estudo metodológico conduzido em 150 usuários com diabetes mellitus, maioria idosos e com baixa escolaridade, em seguimento na Estratégia Saúde da Família. O teste de hipótese da composição fatorial confirmatória da escala ASAS-R foi realizado via modelo de equações estruturais para variáveis latentes. os valores dos índices de ajuste do modelo foram satisfatórios (χ2 de 259,19; χ2/g.l de 2,97, p < 0,001; GFI = 0,85; RMR = 0,07; RMSEA = 0,09), as cargas fatoriais foram superiores a 0,40, maioria das correlações item e fator foi de moderada a forte magnitude (0,34 a 0,58) e os valores de alfa total de 0,74 e dos três fatores de 0,69, 0,38 e 0,69, respectivamente. estrutura fatorial da escala com resultados satisfatórios de validade e de confiabilidade, exceto um de seus fatores. É desejável que essa Escala seja aplicada em amostras da população geral, para fortalecer as análises de consistência interna e de dimensionalidade da estrutura fatorial, e espera-se que este estudo possa contribuir no avanço de outras pesquisas que trabalham com o construto de capacidade de autocuidado e no desenvolvimento da Escala ASAS-R. analizar la estructura factorial de la escala de evaluación de la capacidad de autocuidado, Appraisal of Self Care Agency Scale-Revised (ASAS-R), adaptada en Brasil. estudio metodológico conducido en 150 usuarios con diabetes mellitus, mayoría de ancianos y con baja escolaridad, acompañados por la Estrategia Salud de la Familia. El test de hipótesis de la composición factorial confirmatoria de la escala ASAS-R fue realizado por medio del modelo de ecuaciones estructurales para variables latentes. los valores de los índices de ajuste del modelo fueron satisfactorios (χ2 de 259,19; χ2/g.l de 2,97, p < 0,001; GFI = 0,85; RMR = 0,07; RMSEA = 0,09), las cargas factoriales fueron superiores a 0,40, la mayoría de las correlaciones ítem y factor varió de moderada a fuerte magnitud (0,34 la 0,58); valores de alfa total de 0,74 y de los tres factores de 0,69, 0,38 y 0,69, respectivamente. la estructura factorial de la escala obtuvo resultados satisfactorios de validez y de confiabilidad, excepto uno de sus factores. Es deseable que esa escala sea aplicada en muestras de la población general, para fortalecer los análisis de consistencia interna y de dimensionalidad de la estructura factorial; y se espera que este estudio pueda contribuir para avanzar en nuevas investigaciones que vengan a trabajar con el constructo de capacidad de autocuidado y con el desarrollo de la escala ASAS-R.

Study on the valorization routes of ashes from thermoelectric power plants working under mono-and co-combustion regimes

NASA Astrophysics Data System (ADS)

Barbosa, Rui Pedro Fernandes

The main objective of this thesis was to study new valorization routes of ashes produced in combustion and co-combustion processes. Three main valorization pathways were analyzed: (i)production of cement mortars, (ii) production of concretes, and (iii) use as chemical agents to remove contaminants from wastewaters. Firstly, the ashes produced during the mono-combustion of coal, co-combustion of coal and meat and bone meal (MBM), and mono-combustion of MBM were characterized. The aim of this study was to understand the ashes properties in extreme levels of substitution of coal by a residue with a high contamination of specific metals. The substitution of coal by MBM produced ashes with higher content of heavy metals. Secondly, the ashes coming from an industrial power plant working under mono-combustion(coal) and co-combustion conditions (coal+sewage sludge+MBM) were studied. The use of cofuels did not promote significant changes in the chemical and ecotoxicological properties of ashes. Fly ashes were successfully stabilized/solidified in cement mortar, and bottom and circulating ashes were successfully used as raw materials in concrete. The third step involved the characterization and valorization of biomass ashes resulting from the combustion of forestry residues. The highest concentrations of metals/metalloids were found in the lowest particle size fractions of ashes. Biomass ashes successfully substituted cement and natural aggregates in concretes, without compromising their mechanical, chemical, and ecotoxicological properties. Finally, the biomass ashes were tested as chemical agents to remove contaminants from wastewaters. The removal of P, mainly phosphates, and Pb from wastewaters was assayed. Biomass ashes presented a high capacity to remove phosphates. As fly ashes were more efficient in removing phosphates, they were further used to remove Pb from wastewaters. Again, they presented a high efficiency in Pb removal. New potential valorization routes for these ashes are now opened, contributing to improve their valorization rates.

Determination of aquifer roof extending under the sea from variable-density flow modelling of groundwater response to tidal loading: case study of the Jahe River Basin, Shandong Province, China

NASA Astrophysics Data System (ADS)

Cheng, Jianmei; Chen, Chongxi; Ji, Menrui

The main task of studies on salt-water intrusion into coastal confined aquifers is to predict the position of the fresh- salt-water interface, which can be determined from the length of the aquifer roof extending under the sea. Records of groundwater level affected by tides can be used to infer hydrological conditions and determine hydraulic parameters of an aquifer extending under the sea. In this paper, a three-dimensional, variable-density groundwater flow model has been developed to determine the equivalent roof length of an aquifer extending under the sea from the tidal-effected data of groundwater level in the Jahe River Basin, Shandong Province, China. The seaward boundary is obtained by converging hydraulic head fluctuations observed in drill holes with calculated values, and the aquifer parameters in the extending zone are estimated. The impacts of aquifer roof length and aquifer parameters on the fluctuation of tidal groundwater are studied. It is concluded that the length of the aquifer roof extending under the sea should correspond with certain aquifer parameters in the extrapolation zone. Therefore, the seaward boundary determined from tidal-effect information is the equivalent boundary in hydrodynamic characteristics rather than the true boundary of the confined aquifer Les sujets principaux des études d'instrusion saline dans les aquifères confinés en zone côtière sont la prédiction de la position de l'interface entre l'eau salée et l'eau fraîche, qui peut être déterminée à partir de l'extention du toit de l'aquifère sous la mer. Les enregistrements des niveaux des eaux souterraines influencés par les marées peuvent être utilisés pour préciser les conditions hydrologiques et déterminer les paramètres hydrauliques d'un aquifère possédant une extension sous la mer. Dans cet article, un modèle tridimensionnel comprenant des eaux souterraines de densité variable a été développé pour déterminer la longueur équivalente du toit d'un aquifère qui s'étend sous la mer à partir des données concernant les effets de marée sur les eaux souterraines dans le bassin de la rivière Jahe, dans la province de Shandong, Chine. La limite de salinité est déterminée en faisant converger les fluctuations des hauteurs piézométriques avec les valeurs calculées, et les paramètres de l'aquifère sont estimés dans la zone s'étendant sous la mer. L'incidence de la longueur de l'aquifère sous la mer sur les fluctuations des niveaux est étudiée. On en conclut que la longueur du toit de l'aquifère sous la mer peut correspondre à certains aquifères paramètres dans la zone d'extrapolation. Par conséquent, la limite de salinité déterminée à partir des effets de marée est l'équivalent d'une limite hydrodynamique plutôt que la véritable limite de l'aquifère. El principal objetivo de los estudios sobre intrusiones de agua salada en acuíferos costeros confinados es predecir la posición de la interfase agua dulce-agua salada, la cual puede determinarse a partir de la longitud del techo del acuífero que se extiende por debajo del mar. Los registros de niveles de agua subterránea afectados por las mareas puede utilizarse para inferir las condiciones hidrológicas y determinar los parámetros hidráulicos de un acuífero que se extiende por debajo del mar. En este artículo se ha desarrollado un modelo de flujo tri-dimensional de agua subterránea de densidad variable para determinar la longitud del techo equivalente de un acuífero que se extiende por debajo del mar a partir de datos, afectados por la marea, de niveles de agua subterránea en la Cuenca del Río Jahe, Provincia Shandong, China. El límite hacia el océano se obtiene por convergencia de fluctuaciones de presiones hidráulicas observadas en pozos con valores calculados, y se estiman los parámetros del acuífero en la zona extendida. Se estudian los impactos de la longitud del techo del acuífero y los parámetros del acuífero en la fluctuación del agua subterránea afectada por las mareas. Se concluye que la longitud del techo del acuífero que se extiende por debajo del mar debería corresponder con ciertos parámetros del acuífero en la zona de extrapolación. Por lo tanto, el límite hacia el océano determinado a partir de información de efectos de marea es el límite equivalente en características hidrodinámicas más que el límite real del acuífero confinado.

Paleogene and Neogene magmatism in the Valle del Cura region: New perspective on the evolution of the Pampean flat slab, San Juan province, Argentina

NASA Astrophysics Data System (ADS)

Litvak, Vanesa D.; Poma, Stella; Kay, Suzanne Mahlburg

2007-09-01

The Valle del Cura region is characterized by a thick volcanic and volcaniclastic sequence that records the Tertiary arc and backarc magmatic evolution of the Argentine Main Cordillera over the modern Pampean flatslab at 29.5-30°S. During the Eocene, a retroarc basin developed, represented by the Valle del Cura Formation synorogenic volcanosedimentary sequence, which includes rhyolites and dacitic tuffs. These silicic volcanic rocks have weak arc chemical signatures and high lithophile element concentrations and are isotopically enriched relative to the late Oligocene-early Miocene volcanic rocks that followed them. Their chemical characteristics fit with eruption through a thin crust. The Valle de Cura Formation was followed by the Oligocene-early Miocene Doña Ana Group volcanic sequence, which erupted at and near the arc front west of the border with Chile. The Doña Ana Group volcanic rocks have calc-alkaline chemical characteristics consistent with parental magmas forming in a mantle wedge and erupting through a normal thickness crust (35 km). Subsequent shallowing of the downgoing Nazca plate caused the volcanic front to migrate eastward. The volcanic sequences of the middle Miocene Cerro de las Tórtolas Formation erupted at this new arc front, essentially at the Argentine border. Two stages are recognized: an older one (16-14 Ma) in which magmas appear to have erupted through a normal thickness crust (30-35 km) and a younger one (13-10 Ma) in which the steeper REE pattern suggests the magmas last equilibrated with higher pressure residual mineral assemblages in a thicker crust. Isotopic ratios in the younger group are consistent with an increase in original crustal components and crust introduced into the mantle source by forearc subduction erosion. A peak in forearc subduction erosion near 12-10 Ma is consistent with when the main part of the Juan Fernandez Ridge began to subduct beneath the region. In addition to late Miocene Tambo Formation dacitic ignimbrites, the younger Cerro de las Tórtolas Formation volcanic rocks erupted at the height of contractional deformation in the Valle del Cura and to the east. The last important volcanic sequence to erupt in the Valle del Cura is the late Miocene Vacas Heladas Ignimbrite, the most isotopically enriched Tertiary magmas in the Valle del Cura that contain the highest proportion of crustal components. Subsequently volcanism ceased in the region in response to shallowing of the subduction zone.

75 FR 30859 - Meeting of the Public Safety Officer Medal of Valor Review Board

Federal Register 2010, 2011, 2012, 2013, 2014

2010-06-02

... INFORMATION: The Public Safety Officer Medal of Valor Review Board carries out those advisory functions... participate must register at least seven (7) days in advance of the meeting/conference call by contacting Mr.... Anyone requiring special accommodations should contact Mr. Joy at least seven (7) days in advance of the...

Operational tools and applications of EO satellite data to retrieve surface fluxes in semi-arid countries

NASA Astrophysics Data System (ADS)

Tanguy, Maliko

The objective of the thesis is to develop and evaluate useful tools and applications of Earth Observation (EO) satellite data to estimate surface fluxes in semi-arid countries. In a first part (Chapter 4), we assess the performance of a new parameterisation scheme of ground heat flux (G) to be used in remote sensing (RS) evapotranspiration (ET) estimation methods. The G-parameterisation optimized with AMMA flux data performs well and improves the sensible heat flux (H) and ET retrieved by means of the triangle method (Jiang & Islam, 2001). In a second part (Chapter 5), the triangle method is compared with ET estimated by means of a land surface model (JULES). An attempt is made to calibrate JULES using the triangle method through Monte Carlo simulations, but the two methods supply rather different results, indicating that further intercomparison tasks should be carried out to assess the performance of RS-based algorithms and land surface models in estimating the components of the land surface energy balance. Chapter 6 presents a set of operational examples for retrieving surface fluxes using RS data. The first example is the study of temporal evolution of ET-maps in Western Africa under monsoonal influence. In a second example, we apply the new scheme proposed in Chapter 4 to retrieve and analyse the long term evolution (2000-2009) of the surface energy balance components, G, H and ET at several sites of the Segura Basin (S-E Spain) using MODIS-Terra data (land surface temperature and NDVI). Temporal and spatial distribution of evapotranspiration reveals different controls on ET. (Chapter 6). In the last example, MODIS-Aqua Sea Surface Temperature (SST) is used to validate a mathematical model to retrieve surface fluxes in a Mediterranean coastal lagoon (Mar Menor, S-E Spain). El objetivo de esta tesis es de desarrollar y evaluar herramientas y aplicaciones de la teledetección para estimar flujos de superficie en zonas semiáridas. En una primera parte (Capítulo 4), se evalúa la fiabilidad de una nueva parametrización para estimar el flujo de calor en el suelo (G) con el fin de ser utilizado en métodos de estimación de la evapotranspiración (ET) usando datos de teledetección. La parametrización de G se optimiza usando datos de flujo de energía obtenido durante las campañas del proyecto AMMA, y muestra buenos resultados y una mejora de las estimaciones del flujo de calor sensible (H) y de ET cuando se utiliza conjuntamente con el método del triángulo (Jiang & Islam, 2001). En una segunda parte (Capítulo 5), el método del triángulo se compara con valores de ET estimado por un modelo de superficie terrestre (JULES). Se intenta calibrar JULES usando el método del triángulo mediante simulaciones de Monte Carlo, pero los dos métodos muestran resultados muy diferentes, indicando que se necesita tareas de comparación profundizadas para poder evaluar la eficacia de estos modelos (de superficie terrestre y basados en la teledetección) para estimar los flujos de energía a la superficie. El capítulo 6 presenta un conjunto de ejemplos de aplicaciones operacionales para estimar los flujos de superficie usando datos de teledetección. El primer ejemplo consiste en el estudio de la evolución temporal de mapas de ET en África occidental bajo la influencia del monzón africano. En el segundo ejemplo, se aplica la nueva parametrización de G descrita en el capítulo 4 para calcular y analizar la evolución a largo plazo (2000-2009) de los componentes del balance de energía a la superficie, G, H y ET, en diferentes puntos de la cuenca del río Segura (Sureste español) utilizando datos del sensor MODIS-Terra (temperatura superficial y NDVI). La distribución temporal y espacial de ET revela diferentes controles sobre ET. En el último ejemplo, datos de temperatura superficial del mar del sensor MODIS-Aqua se utilizaron para validar un modelo matemático para calcular los flujos superficiales de una laguna costera del Mediterráneo (Mar Menor en el Sureste español).

Population size and selection intensity effects on short-term response for a selection index in Tribolium.

PubMed

Campo, J L; Turrado, H

1997-01-12

The effects of population size and selection intensity on the short-term response to selection were investigated in an experiment with Tribolium, using a two-trait empirical selection index for pupal and adult weights. Twenty lines were selected following a factorial design of five population sizes (1, 2, 4, 8, and 16 pairs of parents) and four selection intensities (20, 25, 33, and 50%), with three replicates. For each replicate, an unselected control with 16 pairs of parents was produced. There were four generations of selection per line. Selection response was significant in all lines with the 20% selection intensity and/or the 16-pair population size. Selection intensity and population size were significant effects and there was significant interaction between them. Higher selection intensities produced more overall significant response to selection (20% > (25% = 33%) > 50%); this significance was also found for the 16-pair population size. There was an overall significant difference among population sizes, with the larger population sizes giving more response than the smaller sizes (16-pair = 8-pair = 4-pair) > (2-pair = 1-pair); this significance was also found for the 20% selection intensity. There was a good agreement between observed and expected responses, except for the 50% selection intensity and/or 1-pair population size; expected values in generation 1 overestimated observed values. The realized heritability was similar in all lines. With equal and high numbers of individuals scored, it was better to choose a high selection intensity than a large population size. The results show that the effect of population size cannot be ignored, even in short-term selection response; the main influence of population size is through selection differential. RESUMEN: Los efectos del tamaño de población y la intensidad de selección sobre la respuesta a corto plazo para un índice de selección en Tribolium Los efectos del tamaño de población y la intensidad de selección sobre la respuesta a la selección a corto plazo fueron estudiados en un experimento con Tribolium usando un índice empírico de selección para dos caracteres (peso de pupa y peso adulto). Se seleccionaron 20 líneas siguiendo un modelo factorial de cinco tamaños de población (1, 2, 4, 8 y 16 pares de padres) y cuatro intensidades de selección (20, 25, 33 y 50%), con tres repeticiones. En cada repetición, había una línea control sin seleccionar con 16 pares de padres. Se hicieron cuatro generaciones de selección, por línea. La respuesta a la selección fue significativa en todas las líneas con el 20% de intensidad de selección y/o 16 pares de padres. Tanto la intensidad de selección como el tamaño de población fueron efectos significativos y hubo interacción significativa entre ellos. Las intensidades de selección más altas produjeron significativamente más respuesta en general (20% > (25% = 33%) > 50%), y esta significación se mantenía cuando el tamaño de población era de 16 pares de padres. Hubo diferencias significativas entre tamaños de población, dando los mayores tamaños más respuesta en general que los menores tamaños (16 pares = 8 pares = 4 pares) > (2 pares = 1 par), manteniendose esta significación para la intensidad de selección del 20%. La concordancia entre las respuestas observadas y las esperadas era buena, excepto cuando la intensidad de selección era 50% y/o el tamaño de población era 1 par de padres; los valores esperados en la generación 1 sobreestimaban los valores observados. La heredabilidad realizada fue similar en todas las líneas. Cuando el número total de animales era igual y alto, era mejor elegir una intensidad de selección alta que un tamaño de población grande. Los resultados indican que el efecto del tamaño de población no se puede ignorar incluso en experimentos de selección a corto plazo, y que la influencia principal de este efecto es a través del diferencial de selección. 1997 Blackwell Verlag GmbH.

Factors associated with problematic drug use among psychiatric outpatients.

PubMed

Corradi-Webster, Clarissa Mendonça; Gherardi-Donato, Edilaine Cristina da Silva

2016-11-28

to examine the factors associated with problematic drug use among psychiatric outpatients. a cross-sectional study was carried out in two mental health services. Eligible individuals were patients of these mental health services, who used them within the data collection period. Instruments: standardized questionnaire with sociodemographic, social network, social harm, and clinical information; Alcohol, Smoking and Substance Involvement Screening Test; Barratt Impulsiveness Scale; Holmes and Rahe Stress Scale. Statistical analysis was performed using parametric statistics considering a significance level of p ≤ 0.05. Study participants were 243 patients, with 53.9% of these presenting problematic drug use. the most important independent predictors of problematic drug use were marital status (OR = 0.491), religious practice (OR = 0.449), satisfaction with financial situation (OR = 0.469), having suffered discrimination (OR = 3.821) and practicing sports activities in previous 12 months (OR = 2.25). the variables found to be predictors were those related to the social context of the patient, there, it is recommended that mental health services valorize psychosocial actions, seeking to know the social support network of patients, their modes of socialization, their financial needs, and their experiences of life and suffering. analisar os fatores associados ao consumo problemático de droga entre pacientes psiquiátricos ambulatoriais. estudo transversal em dois serviços de saúde mental. Foram considerados indivíduos elegíveis os usuários desses serviços de saúde mental, que os utilizaram dentro do período de coleta de dados. Instrumentos: Questionário padronizado sobre dados sociodemográficos, redes sociais, prejuízos sociais e informações clínicas; Teste de Triagem do Envolvimento com Álcool, Cigarro e outras Substâncias (ASSIST); Escala de Impulsividade de Barratt; e Escala de Avaliação de Reajustamento Social de Holmes e Rahe. A análise estatística foi realizada utilizando-se estatísticas paramétricas considerando um nível de significância de p ≤ 0,05. Participaram do estudo 243 pacientes, com 53,9% destes apresentando consumo problemático de drogas. os preditores independentes mais importantes do consumo problemático de drogas foram o estado civil (OR = 0,491), a prática religiosa (OR = 0,449), a satisfação com a situação financeira (OR = 0,469), ter sofrido discriminação (OR = 3,821) e a prática de atividades esportivas nos últimos 12 meses (OR = 2,25). as variáveis consideradas preditoras foram aquelas relacionadas ao contexto social do paciente, e por isso, recomenda-se que os serviços de saúde mental valorize ações psicossociais, buscando conhecer a rede de suporte social dos pacientes, seus modos de socialização, suas necessidades financeiras e suas experiências de vida e sofrimento. analizar los factores asociados al consumo problemático de droga entre pacientes siquiátricos en ambulatorios. estudio transversal en dos servicios de salud mental. Fueron considerados individuos elegibles los usuarios de esos servicios de salud mental, que utilizaron drogas dentro del período de recolección de datos. Instrumentos: cuestionario estandarizado sobre datos sociodemográficos, redes sociales, perjuicios sociales e informaciones clínicas; Test de Detección del Involucramiento con Alcohol, Cigarro y otras Sustancias (ASSIST); Escala de Impulsividad de Barratt; y Escala de Evaluación de Readecuación Social de Holmes y Rahe. El análisis estadístico fue realizada utilizando estadísticas paramétricas considerando un nivel de significación de p ≤ 0,05. Participaron del estudio 243 pacientes, con 53,9% de estos presentando consumo problemático de drogas. los predictores independientes más importantes del consumo problemático de drogas fueron: el estado civil (OR = 0,491), la práctica religiosa (OR = 0,449), la satisfacción con la situación financiera (OR = 0,469), el haber sufrido discriminación (OR = 3,821) y la práctica de actividades deportivas en los últimos 12 meses (OR = 2,25). las variables consideradas predictoras fueron aquellas relacionadas al contexto social del paciente, y por eso, se recomienda que los servicios de salud mental valoricen acciones psicosociales, buscando conocer la red de soporte social de los pacientes, sus modos de socialización, sus necesidades financieras y sus experiencias de vida y sufrimiento.

Evaluation of 230 patients with relapsed/refractory deletion 17p chronic lymphocytic leukaemia treated with ibrutinib from 3 clinical trials.

PubMed

Jones, Jeffrey; Mato, Anthony; Coutre, Steven; Byrd, John C; Furman, Richard R; Hillmen, Peter; Osterborg, Anders; Tam, Constantine; Stilgenbauer, Stephan; Wierda, William G; Heerema, Nyla A; Eckert, Karl; Clow, Fong; Zhou, Cathy; Chu, Alvina D; James, Danelle F; O'Brien, Susan M

2018-06-05

Patients with chronic lymphocytic leukaemia/small lymphocytic lymphoma (CLL/SLL) with deletion 17p [del(17p)] have poor outcomes with chemoimmunotherapy. Ibrutinib is indicated for the treatment of CLL/SLL, including del(17p) CLL/SLL, and allows for treatment without chemotherapy. This integrated analysis was performed to evaluate outcomes in 230 patients with relapsed/refractory del(17p) CLL/SLL from three ibrutinib studies. With a median of 2 prior therapies (range, 1-12), 18% and 79% of evaluable patients had del(11q) or unmutated IGHV, respectively. With a median follow-up of 28 months, overall response rate was 85% and estimated 30-month progression-free and overall survival rates were 57% [95% confidence interval (CI) 50-64] and 69% (95% CI 61-75), respectively. Patients with normal lactate dehydrogenase or no bulky disease had the most favourable survival outcomes. Sustained haematological improvements in haemoglobin, platelet count and absolute neutrophil count occurred in 61%, 67% and 70% of patients with baseline cytopenias, respectively. New onset severe cytopenias and infections decreased in frequency over time. Progression-free and overall survival with ibrutinib surpass those of other therapies for patients with del(17p) CLL/SLL. These results provide further evidence of the robust clinical activity of ibrutinib in difficult-to-treat CLL/SLL populations. © 2018 The Authors. British Journal of Haematology published by John Wiley & Sons Ltd.

Seguridad del paciente en Radioterapia Intraoperatoria: Impacto de los elementos controlados por el Radiofisico

NASA Astrophysics Data System (ADS)

Tarjuelo, Juan Lopez

Introduccion: En la administracion de la radioterapia intervienen profesionales y equipos de tratamiento, por lo que existe el riesgo de error y se precisa que dicho equipamiento funcione conforme a lo esperado. A los radiofisicos les corresponde participar en las actividades de garantia o aseguramiento de la calidad, incluyendo el control de calidad de los equipos, y en la evaluacion de los riesgos asociados. La radioterapia intraoperatoria (RIO) es una tecnica radioterapica de intensificacion de dosis, altamente selectiva, dirigida a volumenes anatomicos restringidos durante el tratamiento quirurgico oncologico, basada en la administracion de una dosis absorbida alta por medio de un haz de electrones tras el examen visual directo del lecho tumoral. Como incorporar los ultimos avances en el refuerzo de la seguridad en radioterapia es una tarea ambiciosa y compleja, resulta mas concreta y de inmediata aplicacion su introduccion en la RIO. El objetivo es analizar los elementos que reducen los riesgos y aumentan la seguridad en la RIO y su dosimetria, y valorar la funcion del radiofisico en esta labor. Material y metodos: Se emplearon el planificador Radiance de GMV y el acelerador lineal de los tratamientos de RIO Elekta Precise, controlado con el verificador diario de haces Daily QA Check 1090 y medido con las camaras de ionizacion PPC 40, FC65-G y FC65-P de PTW-Freiburg, a su vez verificadas con fuentes radiactivas adecuadas de estroncio-90 modelos CDP y CDC de IBA Dosimetry. Se realizo un analisis de modos de fallo y efectos (failure mode and effect analysis, FMEA) con el fin de identificar los elementos que forman la RIO y aplicar las herramientas necesarias para la minimizacion de los riesgos y la mejora de la seguridad en la tecnica. Se estudiaron las verificaciones diarias de dicho acelerador Precise con el control estadistico de procesos (statistical process control, SPC) y se simularon intervenciones para devolverlo al estado llamado en control. El SPC tambien se uso para estudiar la estabilidad de las camaras de ionizacion mencionadas. Se realizo la dosimetria in vivo en 45 pacientes con MOSFET reforzados mobile TN-502RDM-H, pelicula radiocromica Gafchromic MD-55-2, y se elaboro un modelo teorico para explicar los datos. Por ultimo, al precisarse el uso en RIO de la simulacion virtual y del calculo de la dosis absorbida en el paciente virtual, se ha ilustrado este apartado con la aceptacion y el estado de referencia inicial del planificador de tratamientos modulados con calculo de Monte Carlo Elekta Monaco. Para ello se utilizaron la camara de ionizacion TW31016-0104 y la matriz seven29 de PTW-Freiburg, pelicula radiocromica Gafchromic EBT-2, y diferentes maniquies. Resultados: El FMEA identifico 57 modos de fallo y efectos potenciales. No se experimentaron sucesos relativos a una administracion inadecuada de la dosis absorbida. Se identificaron las revisiones dobles y por un par como claves para reducir los riesgos asociados al equipo de profesionales involucrado en la RIO. Se identificaron tambien oportunidades de mejora con el uso de la automatizacion y el enclavamiento. En cuanto al SPC, los indices de capacidad del proceso abarcaron de 1,6 a 9,3 para un nivel de especificaciones del +/-2%. Las intervenciones simuladas alcanzaron del 2% al 34% de las sesiones de medida. Las camaras de ionizacion Farmer derivaron en direcciones opuestas en un periodo de 6 anos; aunque ello no se aprecio en los informes de calibracion del laboratorio acreditado. No derivo la camara PPC-40. En la dosimetria in vivo, las medidas de los MOSFET no se desviaron significativamente de las medidas con pelicula. Los valores centrales de las dosis absorbidas quedaron entre la dosis absorbida prescrita y la maxima, con lo que indicaron un tratamiento correcto del lecho tumoral. Las anchuras de los intervalos de confianza de las dosis absorbidas esperadas segun el modelo teorico al nivel del 95% abarcaron del 8,6% al 14,7%. Las verificaciones de Monaco resultaron satisfactorias excepto en el caso de la transferencia de datos, que obligo a cambiar el flujo de trabajo. Conclusiones: El FMEA es crucial para priorizar las intervenciones reductoras del riesgo. Tipos diferentes de procesos fallidos se pueden eliminar o paliar con tipos diferentes de tales intervenciones. El SPC puede evaluar la variabilidad inherente del procedimiento monitorizador de haces de electrones, indica cuando intervenir para devolver un proceso al estado de control y si un proceso es capaz con respecto a unas especificaciones o requisitos establecidos. Es viable realizar dosimetria in vivo con un acelerador convencional fijo y obtener resultados satisfactorios en cada localizacion estudiada a pesar de su variabilidad. El modelo teorico desarrollado puede describir con exito resultados globales, aunque no puede explicar todos los datos experimentales. Se ha mostrado que un planificador puede funcionar correctamente en condiciones de laboratorio o trabajando solo; pero puede fallar cuando se conecta con otros equipos de radioterapia. Todos estos aspectos presentados y evaluados aqui constituyen competencias actuales o futuras, y deseables, de los radiofisicos, tanto en el campo de la RIO como en la extension a la radioterapia en su conjunto.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Patrick, N.; Miyakawa, F.; Hunt, J.A.

The distribution of {beta}-thalassemia [{beta}{sup Th}] mutations is unique to each ethnic group. Most mutations affect one or a few bases; large deletions have been rare. Among families screened in Hawaii, [{beta}{sup Th}] heterozygotes were diagnosed by microcytosis, absence of abnormal hemoglobins on isoelectric focusing, and raised Hb A{sub 2} by chromatography. Gene frequency for {beta}{sup Th} was 0.02 in Filipinos. In Filipinos, polymerase chain reaction [PCR] with denaturing gradient gel electrophoresis for {beta}{sup Th} mutations detected a mutation in only 6 of 42 {beta}{sup Th} heterozygotes; an IVS2-666 C/T polymorphism showed non-heterozygosity in 37 and heterozygosity in only 5more » of these {beta}{sup Th} heterozygotes. One {beta}{sup Th}/{beta}{sup Th} major patient and his mother had no mutation detected by allele-specific oligomer hybridization; PCR failed to amplify any DNA from his {beta}-globin gene. After a total {beta}-globin gene deletion [{beta}{sup Del}] was found in a Filipino family in Ontario, specific PCR amplification for {beta}{sup Del} detected this in 43 of 53 {beta}{sup Th} Filipino samples tested; the above {beta}{sup Th}/{beta}{sup Th} patient was a ({beta}{sup Del}/{beta}{sup Del}) homozygote. The {beta}{sup Del} may account for over 60% of all {beta}{sup Th} alleles in Filipinos; this is the highest proportion of a deletion {beta}{sup Th} mutation reported from any population. Most but not all {beta}{sup Del} heterozygotes had high Hb F [5.13 {plus_minus} 3.94 mean {plus_minus} 1 s.d.] compared to the codon 41/42 four base deletion common in Chinese [2.30 {plus_minus} 0.86], or to {beta}{sup Th} heterozygotes with normal {alpha}-globin genes [2.23 {plus_minus} 0.80].« less

Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems.

PubMed

Kulharya, A S; Michaelis, R C; Norris, K S; Taylor, H A; Garcia-Heras, J

1998-06-05

We present the clinical, cytogenetic, and molecular studies on a constitutional deletion of 19q ascertained prenatally due to decreased fetal activity and IUGR. Chromosome analysis by GTG banding on amniocytes suggested a del(19)(q13.1q13.3), but the analysis of microsatellites by PCR demonstrated that the deletion involved the distal segment of q12 and the proximal segment of q13.1 (15 cM). The severely affected female infant born at 38 weeks has clinical findings that may be related to haploinsufficiency of specific genes within 19q12.1-->q13.1 that control important processes of normal development and cell function.

Presence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II.

PubMed

Kanakamani, Jeyaraman; Tomar, Neeraj; Kaushal, Esha; Tandon, Nikhil; Goswami, Ravinder

2010-01-01

Vitamin D-dependent rickets type II (VDDR-type II) is a rare disorder caused by mutations in the vitamin D receptor (VDR) gene. Here, we describe a patient with VDDR-type II with severe alopecia and rickets. She had hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated serum alkaline phosphatase and 1,25-dihydroxyvitamin D(3). Sequence analysis of the lymphocyte VDR cDNA revealed deletion mutation c.716delA. Sequence analysis of her genomic DNA fragment amplified from exon 6 of the VDR gene incorporating this mutation confirmed the presence of the mutation in homozygous form. This frameshift mutation in the ligand binding domain (LBD) resulted in premature termination (p.Lys240Argfs) of the VDR protein. The mutant protein contained 246 amino acids, with 239 normal amino acids at the N terminus, followed by seven changed amino acids resulting in complete loss of its LBD. The mutant VDR protein showed evidence of 50% reduced binding with VDR response elements on electrophoretic mobility assay in comparison to the wild-type VDR protein. She was treated with high-dose calcium infusion and oral phosphate. After 18 months of treatment, she gained 6 cm of height, serum calcium and phosphorus improved, alkaline phosphatase levels decreased, and intact PTH normalized. Radiologically, there were signs of healing of rickets. Her parents and one of her siblings had the same c.716delA mutation in heterozygous form. Despite the complete absence of LBD, the rickets showed signs of healing with intravenous calcium.

The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles.

PubMed

McGee, Joann; Goodyear, Richard J; McMillan, D Randy; Stauffer, Eric A; Holt, Jeffrey R; Locke, Kirsten G; Birch, David G; Legan, P Kevin; White, Perrin C; Walsh, Edward J; Richardson, Guy P

2006-06-14

Sensory hair bundles in the inner ear are composed of stereocilia that can be interconnected by a variety of different link types, including tip links, horizontal top connectors, shaft connectors, and ankle links. The ankle link antigen is an epitope specifically associated with ankle links and the calycal processes of photoreceptors in chicks. Mass spectrometry and immunoblotting were used to identify this antigen as the avian ortholog of the very large G-protein-coupled receptor VLGR1, the product of the Usher syndrome USH2C (Mass1) locus. Like ankle links, Vlgr1 is expressed transiently around the base of developing hair bundles in mice. Ankle links fail to form in the cochleae of mice carrying a targeted mutation in Vlgr1 (Vlgr1/del7TM), and the bundles become disorganized just after birth. FM1-43 [N-(3-triethylammonium)propyl)-4-(4-(dibutylamino)styryl) pyridinium dibromide] dye loading and whole-cell recordings indicate mechanotransduction is impaired in cochlear, but not vestibular, hair cells of early postnatal Vlgr1/del7TM mutant mice. Auditory brainstem recordings and distortion product measurements indicate that these mice are severely deaf by the third week of life. Hair cells from the basal half of the cochlea are lost in 2-month-old Vlgr1/del7TM mice, and retinal function is mildly abnormal in aged mutants. Our results indicate that Vlgr1 is required for formation of the ankle link complex and the normal development of cochlear hair bundles.

Discretion vs. Valor: The Development and Evaluation of a Simulation Game about Being a Believer in the Soviet Union.

ERIC Educational Resources Information Center

Blackstone, Barbara

A study was conducted to determine the effectiveness of "Discretion vs. Valor," a simulation game designed to give North American players a chance to: (1) identify with "believers" (Christians) in the Soviet Union in order to form new images of these persons; (2) gain empathy for Christians by understanding the dilemmas they…

Experience of valorization projects ISTC for laser technologies

NASA Astrophysics Data System (ADS)

Sartory, A. V.; Stepennov, D. B.; Vlasova, E. Y.; Pokrovsky, K. K.

2002-04-01

Application of the achievements of the ISTC projects is one of the main problems being solved to achieve one of the basic goals of the ISTC, namely, to adapt Russian scientists to conditions of developing market economy in Russia. The present report is aimed at rendering of promotional services for ISTC project teams in the context of the program of projects outcomes valorization.

Knowledge and Valorization of Historical Sites Through 3d Documentation and Modeling

NASA Astrophysics Data System (ADS)

Farella, E.; Menna, F.; Nocerino, E.; Morabito, D.; Remondino, F.; Campi, M.

2016-06-01

The paper presents the first results of an interdisciplinary project related to the 3D documentation, dissemination, valorization and digital access of archeological sites. Beside the mere 3D documentation aim, the project has two goals: (i) to easily explore and share via web references and results of the interdisciplinary work, including the interpretative process and the final reconstruction of the remains; (ii) to promote and valorize archaeological areas using reality-based 3D data and Virtual Reality devices. This method has been verified on the ruins of the archeological site of Pausilypon, a maritime villa of Roman period (Naples, Italy). Using Unity3D, the virtual tour of the heritage site was integrated and enriched with the surveyed 3D data, text documents, CAAD reconstruction hypotheses, drawings, photos, etc. In this way, starting from the actual appearance of the ruins (panoramic images), passing through the 3D digital surveying models and several other historical information, the user is able to access virtual contents and reconstructed scenarios, all in a single virtual, interactive and immersive environment. These contents and scenarios allow to derive documentation and geometrical information, understand the site, perform analyses, see interpretative processes, communicate historical information and valorize the heritage location.

Valorization of winery waste vs. the costs of not recycling

DOE Office of Scientific and Technical Information (OSTI.GOV)

Devesa-Rey, R., E-mail: rosa.devesa.rey@uvigo.es; Vecino, X.; Varela-Alende, J.L.

Graphical abstract: Highlights: > Lactic acid, biosurfactants, xylitol or ethanol may be obtained from wine residues. > By-products valorization turns wine wastes into products with industrial applications. > The costs of waste disposal enhances the search of economically viable solutions for valorizing residues. - Abstract: Wine production generates huge amounts of waste. Before the 1990s, the most economical option for waste removal was the payment of a disposal fee usually being of around 3000 Euros. However, in recent years the disposal fee and fines for unauthorized discharges have increased considerably, often reaching 30,000-40,000 Euros, and a prison sentence is sometimesmore » also imposed. Some environmental friendly technologies have been proposed for the valorization of winery waste products. Fermentation of grape marc, trimming vine shoot or vinification lees has been reported to produce lactic acid, biosurfactants, xylitol, ethanol and other compounds. Furthermore, grape marc and seeds are rich in phenolic compounds, which have antioxidants properties, and vinasse contains tartaric acid that can be extracted and commercialized. Companies must therefore invest in new technologies to decrease the impact of agro-industrial residues on the environment and to establish new processes that will provide additional sources of income.« less

Performance of the dipstick screening test as a predictor of negative urine culture.

PubMed

Marques, Alexandre Gimenes; Doi, André Mario; Pasternak, Jacyr; Damascena, Márcio Dos Santos; França, Carolina Nunes; Martino, Marinês Dalla Valle

2017-01-01

To investigate whether the urine dipstick screening test can be used to predict urine culture results. A retrospective study conducted between January and December 2014 based on data from 8,587 patients with a medical order for urine dipstick test, urine sediment analysis and urine culture. Sensitivity, specificity, positive and negative predictive values were determined and ROC curve analysis was performed. The percentage of positive cultures was 17.5%. Nitrite had 28% sensitivity and 99% specificity, with positive and negative predictive values of 89% and 87%, respectively. Leukocyte esterase had 79% sensitivity and 84% specificity, with positive and negative predictive values of 51% and 95%, respectively. The combination of positive nitrite or positive leukocyte esterase tests had 85% sensitivity and 84% specificity, with positive and negative predictive values of 53% and 96%, respectively. Positive urinary sediment (more than ten leukocytes per microliter) had 92% sensitivity and 71% specificity, with positive and negative predictive values of 40% and 98%, respectively. The combination of nitrite positive test and positive urinary sediment had 82% sensitivity and 99% specificity, with positive and negative predictive values of 91% and 98%, respectively. The combination of nitrite or leukocyte esterase positive tests and positive urinary sediment had the highest sensitivity (94%) and specificity (84%), with positive and negative predictive values of 58% and 99%, respectively. Based on ROC curve analysis, the best indicator of positive urine culture was the combination of positives leukocyte esterase or nitrite tests and positive urinary sediment, followed by positives leukocyte and nitrite tests, positive urinary sediment alone, positive leukocyte esterase test alone, positive nitrite test alone and finally association of positives nitrite and urinary sediment (AUC: 0.845, 0.844, 0.817, 0.814, 0.635 and 0.626, respectively). A negative urine culture can be predicted by negative dipstick test results. Therefore, this test may be a reliable predictor of negative urine culture. Verificar se a triagem de urina por fitas reativas é capaz de predizer a cultura de urina. Métodos Estudo retrospectivo realizado entre janeiro e dezembro de 2014 com 8.587 pacientes, com solicitação médica de triagem de urina (fita), sedimento urinário e cultura de urina. sensibilidade, especificidade, valor preditivo positivo, valor preditivo negativo e curva ROC. Foram positivas 17,5% das culturas. O nitrito apresentou sensibilidade de 28% e especificidade de 99%. O valor preditivo positivo foi de 89% e o valor preditivo negativo de 87%. Esterase apresentou sensibilidade de 79% e especificidade de 84%. Valor preditivo positivo e valor preditivo negativo foram de 51% e 95%, respectivamente. A combinação de nitrito ou esterase positivos apresentou sensibilidade de 85% e especificidade de 84%. Valor preditivo positivo e valor preditivo negativo foram, respectivamente, 53% e 96%. O sedimento positivo (mais de dez leucócitos por microlitro) apresentou sensibilidade de 92% e especificidade de 71%. O valor preditivo positivo foi 40% e o negativo, 98%. A combinação de nitrito e sedimento urinário positivos apresentou sensibilidade de 82% e especificidade de 99%. Os valores preditivos positivo e negativo foram 91% e 98%, respectivamente. Para o nitrito ou esterase positivos mais os leucócitos positivos, a sensibilidade foi de 94% e a especificidade de 84%. O valor preditivo positivo foi de 58% e o negativo foi de 99%. Com base na curva ROC, o melhor indicador de urocultura positiva foi a associação entre a esterase ou nitrito positivos na fita mais os leucócitos positivos no sedimento, seguido por nitrito e esterase positivos, sedimento urinário positivo isolado, esterase positiva isolada, nitrito positivo isolado e, finalmente, pela associação entre nitrito e sedimento urinário positivos (AUC: 0,845, 0,844, 0,817, 0,814, 0,635 e 0,626, respectivamente). Uma urocultura negativa pode ser prevista com resultados negativos na fita. Portanto, este teste pode ser um preditor confiável de urocultura negativa.

Evaluation of HLA-G 14-bp ins/del and +3142G>C polymorphisms with susceptibility to recurrent spontaneous abortion.

PubMed

Hashemi, Mohammad; Mokhtari, Mojgan; Khazaeian, Safura; Bahari, Gholamreza; Rezaei, Maryam; Nakhaee, Alireza; Taheri, Mohsen

2017-06-01

HLA-G is critically important for successful implantation during pregnancy. Increasing evidence supposed that HLA-G plays a key role in tolerance of the semi-allogeneic graft in pregnancy by inhibiting the cytotoxic functions of T and NK cells. The present study aimed to evaluate the impact of HLA-G rs1063320 (+3142G>C) and 14-bp insertion (ins)/deletion (del) polymorphisms on recurrent spontaneous abortion (RSA). Genomic DNA from 93 RSA patients and 93 normal fertile women was isolated using the salting out method. Genotyping of HLA-G +3142G>C and 14-bp ins/del variants was done by polymerase chain reaction restriction fragment length polymorphism (PCR-RFP) and PCR method, respectively. The HLA-G +3142G>C polymorphism increased the risk of RSA in codominant (OR = 2.39, 95%CI = 1.27-4.49, p = 0.010, GC vs GG; OR = 3.28, 95%CI = 1.16-9.72, p = 0.040, CC vs GG) and dominant (OR = 2.52, 95%CI = 1.37-4.64, p = 0.004, GC + CC vs GG) tested inheritance models. HLA-G rs1063320 C allele was associated with increased risk of RSA (OR = 1.84, 95%CI = 1.20-2.83, p = 0.007). The del/del genotype as well as del allele of 14-bp ins/del variant increased that risk of RSA (OR = 3.02, 95%CI = 1.23-7.41, p = 0.025 and OR = 1.65, 95%CI = 1.09-2.50, p = 0.022, respectively). In summary, our results showed that HLA-G gene polymorphisms significantly increased the risk of RSA in a sample of the Iranian population. Copyright © 2017. Published by Elsevier B.V.

Domestic violence on children: development and validation of an instrument to evaluate knowledge of health professionals.

PubMed

Oliveira, Lanuza Borges; Soares, Fernanda Amaral; Silveira, Marise Fagundes; Pinho, Lucinéia de; Caldeira, Antônio Prates; Leite, Maísa Tavares de Souza

2016-08-18

to develop and validate an instrument to evaluate the knowledge of health professionals about domestic violence on children. this was a study conducted with 194 physicians, nurses and dentists. A literature review was performed for preparation of the items and identification of the dimensions. Apparent and content validation was performed using analysis of three experts and 27 professors of the pediatric health discipline. For construct validation, Cronbach's alpha was used, and the Kappa test was applied to verify reproducibility. The criterion validation was conducted using the Student's t-test. the final instrument included 56 items; the Cronbach alpha was 0.734, the Kappa test showed a correlation greater than 0.6 for most items, and the Student t-test showed a statistically significant value to the level of 5% for the two selected variables: years of education and using the Family Health Strategy. the instrument is valid and can be used as a promising tool to develop or direct actions in public health and evaluate knowledge about domestic violence on children. elaborar e validar um instrumento para avaliação do conhecimento dos profissionais de saúde sobre a violência doméstica contra a criança. estudo realizado com 194 profissionais médicos, enfermeiros e cirurgiões dentistas. Para elaboração dos itens e identificação das dimensões, realizou-se a revisão da literatura. A validação aparente e de conteúdo foram realizadas por meio da análise de três especialistas e de 27 professores universitários da área de saúde da criança. Para a validação de construto, avaliou-se o coeficiente alfa de Cronbach, e o teste Kappa foi usado para verificar a reprodutibilidade. A validação de critério foi conduzida com uso do teste t-student. o instrumento final apresentou 56 itens, o alfa Cronbach foi de 0,734, o teste Kappa revelou concordância superior a 0,6 para a maioria dos itens, e o teste t-student apresentou valor estatisticamente significante até o nível de 5% para as duas variáveis selecionadas, tempo de formação e tempo na Estratégia Saúde da Família. o instrumento apresentou-se válido e, deste modo , pode ser usado como ferramenta promissora para desenvolver ou direcionar as ações em saúde pública e avaliação do conhecimento sobre a violência doméstica contra a criança. elaborar y validar un instrumento para evaluación del conocimiento de los profesionales de la salud sobre la violencia doméstica ejercida contra el niño. estudio realizado con 194 profesionales: médicos, enfermeros y cirujanos dentistas. Para elaboración de los ítems e identificación de las dimensiones, se realizó una revisión de la literatura. La validación aparente y de contenido fueron realizadas por medio del análisis de tres especialistas y de 27 profesores universitarios del área de la salud del niño. Para la validación de constructo, se evaluó el coeficiente alfa de Cronbach, y la prueba Kappa fue usada para verificar la reproductibilidad. La validación de criterio fue realizada con uso de la prueba t de Student. el instrumento final presentó 56 ítems, el alfa Cronbach fue de 0,734, la prueba Kappa reveló concordancia superior a 0,6 para la mayoría de los ítems, y la prueba t de Student presentó valor estadísticamente significativo hasta el nivel de 5% para las dos variables seleccionadas: tiempo de graduación y tiempo en el programa Estrategia Salud de la Familia. el instrumento se presentó válido y, de ese modo, puede ser usado como herramienta promisora para desarrollar o dirigir acciones de salud pública y evaluar el conocimiento sobre la violencia doméstica contra el niño.

Absence of FKBP10 in Recessive Type XI Osteogenesis Imperfecta Leads to Diminished Collagen Cross-Linking and Reduced Collagen Deposition in Extracellular Matrix

PubMed Central

Barnes, Aileen M.; Cabral, Wayne A.; Weis, MaryAnn; Makareeva, Elena; Mertz, Edward L.; Leikin, Sergey; Eyre, David; Trujillo, Carlos; Marini, Joan C.

2012-01-01

Recessive osteogenesis imperfecta (OI) is caused by defects in genes whose products interact with type I collagen for modification and/or folding. We identified a Palestinian pedigree with moderate and lethal forms of recessive OI caused by mutations in FKBP10 or PPIB, which encode endoplasmic reticulum resident chaperone/isomerases FKBP65 and CyPB, respectively. In one pedigree branch, both parents carry a deletion in PPIB (c.563_566delACAG), causing lethal type IX OI in their two children. In another branch, a child with moderate type XI OI has a homozygous FKBP10 mutation (c.1271_1272delCCinsA). Proband FKBP10 transcripts are 4% of control and FKBP65 protein is absent from proband cells. Proband collagen electrophoresis reveals slight band broadening, compatible with ≈10% overmodification. Normal chain incorporation, helix folding, and collagen Tm support a minimal general collagen chaperone role for FKBP65. However, there is a dramatic decrease in collagen deposited in culture despite normal collagen secretion. Mass spectrometry reveals absence of hydroxylation of the collagen telopeptide lysine involved in cross-linking, suggesting that FKBP65 is required for lysyl hydroxylase activity or access to type I collagen telopeptide lysines, perhaps through its function as a peptidylprolyl isomerase. Proband collagen to organics ratio in matrix is approximately 30% of normal in Raman spectra. Immunofluorescence shows sparse, disorganized collagen fibrils in proband matrix. PMID:22718341

Recent advances in oxidative valorization of lignin

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ma, Ruoshui; Guo, Mond; Zhang, Xiao

Lignin, an aromatic macromolecule synthesized by all higher plants, is one of the most intriguing natural materials for utilization across a wide range of applications. Depolymerization and fragmentation of lignin into small chemicals constituents which can either replace current market products or be used building blocks for new material synthesis is a focus of current lignin valorization strategies. And among the variety of lignin degradation chemistries, catalytic oxidation of lignin presents an energy efficient means of lignin depolymerization and generating selective reaction products. Our review provides a summary of the recent advancements in oxidative lignin valorization couched in a discussionmore » on how these chemistries may contribute to the degradation of the lignin macromolecule through three major approaches: 1) inter-unit linkages cleavage; 2) propanyl side-chain oxidative modification; and 3) oxidation of the aromatic ring and ring cleavage reactions.« less

Recent advances in oxidative valorization of lignin

DOE PAGES

Ma, Ruoshui; Guo, Mond; Zhang, Xiao

2017-07-21

Lignin, an aromatic macromolecule synthesized by all higher plants, is one of the most intriguing natural materials for utilization across a wide range of applications. Depolymerization and fragmentation of lignin into small chemicals constituents which can either replace current market products or be used building blocks for new material synthesis is a focus of current lignin valorization strategies. And among the variety of lignin degradation chemistries, catalytic oxidation of lignin presents an energy efficient means of lignin depolymerization and generating selective reaction products. Our review provides a summary of the recent advancements in oxidative lignin valorization couched in a discussionmore » on how these chemistries may contribute to the degradation of the lignin macromolecule through three major approaches: 1) inter-unit linkages cleavage; 2) propanyl side-chain oxidative modification; and 3) oxidation of the aromatic ring and ring cleavage reactions.« less

Relation between "terra rossa" from the Apulia aquifer of Italy and the radon content of groundwater: Experimental results and their applicability to radon occurrence in the aquifer

NASA Astrophysics Data System (ADS)

Tadolini, T.; Spizzico, M.

The radon-222 (222Rn) activity in groundwater of the Apulian karstic aquifer in southern Italy is as great as 500 Becquerel per liter (Bq/L) locally. Normal radium-226 (226Ra) activity in the limestone and calcareous dolomites of the aquifer is not enough to explain such a high level. Laboratory investigations identified high 226Ra activity in the "terra rossa," the residuum occupying fissures and cavities in the bedrock, and also the relation between (1) 226Ra-bearing bedrock and "terra rossa" and (2) 222Rn in water. The "terra rossa" is the primary source of the radon in the groundwater. The experimental results show the need to characterize the "terra rossa" of Apulia on the basis of 226Ra activity and also to study the distribution and variations in 222Rn activity over time in the aquifer. Résumé L'activité du radon-222 (222Rn) dans les eaux souterraines de l'aquifère karstique des Pouilles, dans le sud de l'Italie, atteint localement 500 Becquerel par litre (Bq/L). L'activité normale du radium-226 (226Ra) dans les calcaires et dans les calcaires dolomitiques de l'aquifère n'est pas assez élevée pour expliquer des valeurs aussi élevées. Des analyses de laboratoire ont mis en évidence une forte activité en 226Ra dans la terra rossa, remplissage de fissures et de cavités de la roche, ainsi qu'une relation entre (1) la roche et la terra rossa contenant du 226Ra et (2) le 222Rn dans l'eau. La terra rossa est la source primaire de radon dans l'eau souterraine. Les résultats expérimentaux montrent qu'il est nécessaire de caractériser la terra rossa des Pouilles par son activité en 226Ra et d'étudier la distribution et les variations de l'activité en 222Rn au cours du temps dans l'aquifère. Resumen La actividad del radon-222 (222Rn) en el agua subterránea del acuífero cárstico de Apulia, al sur de Italia, alcanza localmente los 500Bq/L. La actividad normal del radio-226 (226Ra) en las calcitas y dolomitas del acuífero no es suficiente para explicar estos niveles tan altos. Las investigaciones de laboratorio han identificado alta actividad de 226Ra en la "terra rossa", el material que rellena las fisuras y cavidades de la matriz rocosa, y han identificado también la relación entre (1) el 226Ra presente en la roca portante y la "terra rossa" y (2) el contenido de 222Rn en el agua. La "terra rossa" es, pues, la fuente principal de radón en las aguas subterráneas. Los resultados experimentales muestran la necesidad de caracterizar la "terra rossa" de Apulia sobre la base de la actividad de 226Ra, así como de estudiar la distribución y las variaciones en la actividad del 222Rn en el acuífero a lo largo del tiempo.

Social Role Theory and Social Role Valorization for Care Management Practice.

PubMed

Blakely, Thomas J; Dziadosz, Gregory M

2015-01-01

This article proposes that social role theory (SRT) and social role valorization (SRV) be established as organizing theories for care managers. SRT is a recognized sociological theory that has a distinctive place in care management practice. SRV is an adjunct for SRT that focuses on people who are devalued by being in a negative social position and supports behavior change and movement to a valued social position.

The D153del Mutation in GNB3 Gene Causes Tissue Specific Signalling Patterns and an Abnormal Renal Morphology in Rge Chickens

PubMed Central

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

Watch Me Grow! A Text for the Early Education of the Blind Child = Miradme! Texto para la Educacion Precoz del Nino Ciego.

ERIC Educational Resources Information Center

Blind Children's Fund, Aburndale, MA.

This text assists parents and other caregivers in stimulating the young child with a severe visual impairment, in order to encourage development of normal behaviors which blindness delays and to prevent the appearance of psychological disturbances. Simple language and illustrations describe the stages of child development from newborn to 3 years…

Costs of Public Pharmaceutical Services in Rio de Janeiro Compared to Farmácia Popular Program.

PubMed

Silva, Rondineli Mendes da; Caetano, Rosângela

2016-12-22

To analyze the costs of public pharmaceutical services compared to Farmácia Popular Program (Popular Pharmacy Program). Comparison between prices paid by Aqui Tem Farmácia Popular Program (Farmácia Popular is available here) with the full costs of medicine provision by the Municipal Health Department of Rio de Janeiro. The comparison comprised 25 medicines supplied by both the municipal pharmaceutical service and Aqui Tem Farmácia Popular Program. Calculating the cost per pharmaceutical unit of each medicine included expenditure by Municipal Health Department of Rio de Janeiro with procurement (price), logistics, and local dispensation. The reference price of medicines paid by Aqui Tem Farmácia Popular was taken from the Brazilian Ministry of Health standard in force in 2012. Comparisons included full reference price; reference price minus 10.0% copayment by users; and maximum reference paid by the Ministry of Health (minus copayment and taxes). Simulations were carried out of the differences between the costs of Municipal Health Department of Rio de Janeiro with the common medicines and those potentially incurred based on the reference price of Aqui Tem Farmácia Popular. The Municipal Health Department of Rio de Janeiro spent R$28,526,526.57 with 25 medicines of the common list in 2012; 58.7% accounted for direct procurement costs. The estimated costs of the Health Department were generally lower than the reference prices of the Aqui Tem Farmácia Popular Program for 20 medicines, regardless of reference prices. The potential costs incurred by Health Department if expenditure of its consumption pattern were based on the reference prices of Aqui Tem Farmácia Popular would be R$124,170,777.76, considering the best scenario of payment by the Brazilian Ministry of Health (90.0% of the reference price, minus taxes). The difference in costs between public provision by Municipal Health Department of Rio de Janeiro and Farmácia Popular Program indicates that some reference prices could be reviewed aiming at their reduction. Analisar custos da assistência farmacêutica pública frente ao Programa Farmácia Popular. Comparação entre os valores pagos pelo Programa Aqui Tem Farmácia Popular com os custos integrais relativos à provisão de medicamentos pela Secretaria Municipal de Saúde do Rio de Janeiro. A comparação compreendeu 25 medicamentos, comuns tanto à provisão pela assistência farmacêutica pública municipal quanto pelo Programa Aqui Tem Farmácia Popular. O cálculo do custo unitário por unidade farmacotécnica de cada medicamento envolveu os gastos da Secretaria Municipal de Saúde com custos de aquisição (preço), logísticos e com a dispensação em nível local. O valor de referência dos medicamentos pago pelo Aqui Tem Farmácia Popular foi extraído da norma ministerial em vigor em 2012. As comparações envolveram o valor de referência pleno; valor de referência com desconto dos 10,0% pagos de contrapartida pelos usuários; e valor de referência máximo pago pelo Ministério da Saúde (descontados contrapartida e sem impostos).Foram realizadas simulações das diferenças entre os gastos da Secretaria Municipal de Saúde do Rio de Janeiro com os medicamentos do elenco comum e os que seriam incorridos se esses tivessem sido executados com base no valor de referência do Aqui Tem Farmácia Popular. A Secretaria Municipal de Saúde do Rio de Janeiro gastou R$28.526.526,57 com 25 medicamentos do rol comum em 2012; 58,7% corresponderam a custos diretos com a aquisição dos produtos. Os custos estimados da Secretaria Municipal de Saúde do Rio de Janeiro foram, em geral, menores que os valores de referência do Programa Aqui Tem Farmácia Popular em 20 medicamentos, independentemente dos valores de referência. Os custos que seriam incorridos pela Secretaria Municipal de Saúde do Rio de Janeiro, caso seu padrão de consumo tivesse como valor de pagamento os valores de referência do Aqui Tem Farmácia Popular seriam de R$124.170.777,76 considerando a melhor situação de pagamento pelo Ministério da Saúde (90,0% do valor de referência, com impostos descontados). A diferença de custos entre a provisão pública pela Secretaria Municipal de Saúde do Rio de Janeiro e o Programa Aqui Tem Farmácia Popular sinaliza que alguns valores de referência poderiam ser objetos de exame para sua redução.

Calibración del retardo ionosférico en observaciones astrométricas y geodésicas a partir de observaciones GPS

NASA Astrophysics Data System (ADS)

Brunini, C.; Kleusberg, A.; Arias, E. F.; de Biasi, M. S.

Los parámetros astrométricos y geodésicos de precisión se determinan hoy mediante la observación con técnicas espaciales (VLBI, GPS y LSR). Las técnicas VLBI y GPS operan en la banda de microondas y en ella la ionósfera terrestre es dispersiva. Las señales que provienen de las radiofuentes y de los satélites atraviesan la ionósfera, donde el índice de refracción difiere de la unidad en una cantidad que es proporcional a la densidad de electrones libres e inversamente proporcional al cuadrado de la frecuencia de la onda portadora. Actualmente el International GPS Service for Geodynamics (IGS) mantiene operacional una red global integrada por más de 50 estaciones equipadas con receptores GPS de alta performance; las observaciones diarias son accesibles a los usuarios mediante ftp. La posibilidad de utilizar estas observaciones en un monitoreo continuo de la ionósfera fue señalada por diversos autores, razón por la cual en los últimos años se ha invertido un significativo esfuerzo en la producción de mapas ionosféricos regionales y globales. En el presente trabajo se utilizan 28 estaciones cuyas observaciones mapean la mayor parte de la ionósfera global. Los resultados obtenidos demuestran la posibilidad de obtener mapas ionosféricos globales con una resolución de medio día y con una precisión de (1.5 nseg (rms)). Dichos mapas proveen valores medios globales para el intervalo ajustado. Los residuos del ajuste por mínimos cuadrados constituyen una señal a partir de la cual pueden estudiarse mejor las variaciones geográficas de la ionósfera y las componentes estadísticas de su variación temporal.

Electric field-based technologies for valorization of bioresources.

PubMed

Rocha, Cristina M R; Genisheva, Zlatina; Ferreira-Santos, Pedro; Rodrigues, Rui; Vicente, António A; Teixeira, José A; Pereira, Ricardo N

2018-04-01

This review provides an overview of recent research on electrotechnologies applied to the valorization of bioresources. Following a comprehensive summary of the current status of the application of well-known electric-based processing technologies, such as pulsed electric fields (PEF) and high voltage electrical discharges (HVED), the application of moderate electric fields (MEF) as an extraction or valorization technology will be considered in detail. MEF, known by its improved energy efficiency and claimed electroporation effects (allowing enhanced extraction yields), may also originate high heating rates - ohmic heating (OH) effect - allowing thermal stabilization of waste stream for other added-value applications. MEF is a simple technology that mostly makes use of green solvents (mainly water) and that can be used on functionalization of compounds of biological origin broadening their application range. The substantial increase of MEF-based plants installed in industries worldwide suggests its straightforward application for waste recovery. Copyright © 2018 Elsevier Ltd. All rights reserved.

Charity advertising: for or against people with a mental handicap?

PubMed

Eayrs, C B; Ellis, N

1990-12-01

This research investigated whether it is possible for charity advertising campaigns to stimulate donations successfully as well as to represent people with disabilities as valued human beings. Thirty-eight subjects were required to rank 10 MENCAP posters along 15 bipolar constructs using a variation of the Q sort procedure. Constructs included feelings such as pity, guilt and sympathy, constructive helping behaviours such as giving money and time, and perceptions such as having rights, value and capabilities. Correlational, cluster and factor analyses suggest that images which elicit the greatest commitment to give money are those most closely associated with feelings of guilt, sympathy and pity and are negatively associated with posters which illustrate people with a mental handicap as having the same rights, value and capability as non-handicapped persons. The implications of these findings with regard to advertising and the principle of normalization (social role valorization) are discussed.

Chromosome 13q deletion and IgH abnormalities may be both masked by near-tetraploidy in a high proportion of multiple myeloma patients: a combined morphology and I-FISH analysis.

PubMed

Koren-Michowitz, Maya; Hardan, Izhar; Berghoff, Janina; Yshoev, Galina; Amariglio, Ninette; Rechavi, Gideon; Nagler, Arnon; Trakhtenbrot, Luba

2007-10-08

Ploidy status and chromosomal aberrations involving chromosome 13q and the immunoglobulin heavy chain locus (IgH) are important prognostic features in multiple myeloma (MM). However, conventional cytogenetic studies are often not reveling and determination of plasma cells (PC) ploidy status in MM is technically difficult. We have used a combined cell morphology and interphase FISH (I-FISH) analysis in 184 consecutive BM samples from 136 MM patients for the diagnosis of chromosome 13q deletion [del (13q)] and IgH abnormalities. We have found a high prevalence (37%) of near-tetraploid (NT) PC in the BM samples studied. NT status of PC was verified with DNA index (DI) measurements. del (13q) was found in 69% and a total absence of one IgH copy (loss of IgH) in 20% of NT samples. We have shown that the presence of del (13q) and loss of IgH can be masked in NT cases: in 12 NT samples originally identified as normal for del (13q) the abnormality was obscured in the majority of plasma cells due to the presence of NT. Similarly, loss of IgH was masked in four samples with a large population of NT cells. Moreover, in one case the appearance of a 100% tetraploidy during disease progression masked the presence of del (13q), originally present, and could therefore falsely appear as disappearance of this prognostic marker. In conclusion, we have shown that a combination of three abnormalities, i.e., del (13q), loss of IgH and NT, all of potential prognostic significance, can be overlooked unless NT is specifically searched for and ruled out. Therefore, we suggest that a search for NT should be added to the routine BM assessment in MM patients.

Dual Inhibition of PI3K/Akt and mTOR by the Dietary Antioxidant, Delphinidin, Ameliorates Psoriatic Features In Vitro and in an Imiquimod-Induced Psoriasis-Like Disease in Mice

PubMed Central

Adhami, Vaqar M.; Esnault, Stephane; Sechi, Mario; Siddiqui, Imtiaz A.; Satyshur, Kenneth A.; Syed, Deeba N.; Dodwad, Shah-Jahan M.; Chaves-Rodriquez, Maria-Ines; Longley, B. Jack; Wood, Gary S.

2017-01-01

Abstract Aim: The treatment of psoriasis remains elusive, underscoring the need for identifying novel disease targets and mechanism-based therapeutic approaches. We recently reported that the PI3K/Akt/mTOR pathway that is frequently deregulated in many malignancies is also clinically relevant for psoriasis. We also provided rationale for developing delphinidin (Del), a dietary antioxidant for the management of psoriasis. This study utilized high-throughput biophysical and biochemical approaches and in vitro and in vivo models to identify molecular targets regulated by Del in psoriasis. Results: A kinome-level screen and Kds analyses against a panel of 102 human kinase targets showed that Del binds to three lipid (PIK3CG, PIK3C2B, and PIK3CA) and six serine/threonine (PIM1, PIM3, mTOR, S6K1, PLK2, and AURKB) kinases, five of which belong to the PI3K/Akt/mTOR pathway. Surface plasmon resonance and in silico molecular modeling corroborated Del's direct interactions with three PI3Ks (α/c2β/γ), mTOR, and p70S6K. Del treatment of interleukin-22 or TPA-stimulated normal human epidermal keratinocytes (NHEKs) significantly inhibited proliferation, activation of PI3K/Akt/mTOR components, and secretion of proinflammatory cytokines and chemokines. To establish the in vivo relevance of these findings, an imiquimod (IMQ)-induced Balb/c mouse psoriasis-like skin model was employed. Topical treatment of Del significantly decreased (i) hyperproliferation and epidermal thickness, (ii) skin infiltration by immune cells, (iii) psoriasis-related cytokines/chemokines, (iv) PI3K/Akt/mTOR pathway activation, and (v) increased differentiation when compared with controls. Innovation and Conclusion: Our observation that Del inhibits key kinases involved in psoriasis pathogenesis and alleviates IMQ-induced murine psoriasis-like disease suggests a novel PI3K/AKT/mTOR pathway modulator that could be developed to treat psoriasis. Antioxid. Redox Signal. 26, 49–69. PMID:27393705

The effects of taxing sugar-sweetened beverages across different income groups.

PubMed

Sharma, Anurag; Hauck, Katharina; Hollingsworth, Bruce; Siciliani, Luigi

2014-09-01

This paper investigates the impact of sugar-sweetened beverages (SSB) taxes on consumption, bodyweight and tax burden for low-income, middle-income and high-income groups using an Almost Ideal Demand System and 2011 Household level scanner data. A significant contribution of our paper is that we compare two types of SSB taxes recently advocated by policy makers: A 20% flat rate sales (valoric) tax and a 20 cent/L volumetric tax. Censored demand is accounted for using a two-step procedure. We find that the volumetric tax would result in a greater per capita weight loss than the valoric tax (0.41 kg vs. 0.29 kg). The difference between the change in weight is substantial for the target group of heavy purchasers of SSBs in low-income households, with a weight reduction of up to 3.20 kg for the volumetric and 2.06 kg for the valoric tax. The average yearly per capita tax burden on low-income households is $17.87 (0.21% of income) compared with $15.17 for high-income households (0.07% of income) for the valoric tax, and $13.80 (0.15%) and $10.10 (0.04%) for the volumetric tax. Thus, the tax burden is lower, and weight reduction is higher under a volumetric tax. Copyright © 2014 John Wiley & Sons, Ltd.

[Study of generational risk in deafness inflicted couples using deafness gene microarray technique].

PubMed

Wang, Ping; Zhao, Jia; Yu, Shu-yuan; Jin, Peng; Zhu, Wei; DU, Bo

2011-06-01

To explored the significance of screening the gene mutations of deafness related in deaf-mute (deaf & dumb) family using DNA microarray. Total of 52 couples of deaf-mute were recruited from Changchun deaf-mute community. With an average age of (58.3 ± 6.7) years old (x(-) ± s). Blood samples were obtained with informed consent. Their genomic DNA was extracted from peripheral blood and PCR was performed. Nine of hot spot mutations in four most common deafness pathologic gene were examined with the DNA microarray, including GJB2, GJB3, PDS and mtDNA 12S rRNA genes. At the same time, the results were verified with the traditional methods of sequencing. Fifty of normal people served as a control group. All patients were diagnosed non-syndromic sensorineural hearing loss by subjective pure tone audiometry. Thirty-two of 104 cases appeared GJB2 gene mutation (30.7%), the mutation sites included 35delG, 176del16, 235delC and 299delAT. Eighteen of 32 cases of GJB2 mutations were 235delC (59.1%). Seven of 104 cases appeared SLC26A4 gene IVS7-2 A > G mutation. Questionnaire survey and gene diagnosis revealed that four of 52 families have deaf offspring (7.6%). When a couple carries the same gene mutation, the risk of their children deafness was 100%. The results were confirmed with the traditional methods of sequencing. There is a high risk of deafness if a deaf-mute family is planning to have a new baby. It is very important and helpful to avoid deaf newborns again in deaf-mute family by DNA microarray.

General anesthetic octanol and related compounds activate wild-type and delF508 cystic fibrosis chloride channels

PubMed Central

Marcet, Brice; Becq, Frédéric; Norez, Caroline; Delmas, Patrick; Verrier, Bernard

2004-01-01

Cystic fibrosis transmembrane conductance regulator (CFTR) Cl− channel is defective during cystic fibrosis (CF). Activators of the CFTR Cl− channel may be useful for therapy of CF. Here, we demonstrate that a range of general anesthetics like normal-alkanols (n-alkanols) and related compounds can stimulate the Cl− channel activity of wild-type CFTR and delF508-CFTR mutant. The effects of n-alkanols like octanol on CFTR activity were measured by iodide (125I) efflux and patch-clamp techniques on three distinct cellular models: (1) CFTR-expressing Chinese hamster ovary cells, (2) human airway Calu-3 epithelial cells and (3) human airway JME/CF15 epithelial cells which express the delF508-CFTR mutant. Our data show for the first time that n-alkanols activate both wild-type CFTR and delF508-CFTR mutant. Octanol stimulated 125I efflux in a dose-dependent manner in CFTR-expressing cells (wild-type and delF508) but not in cell lines lacking CFTR. 125I efflux and Cl− currents induced by octanol were blocked by glibenclamide but insensitive to 4,4′-diisothiocyanatostilbene-2,2′-disulfonic acid, as expected for a CFTR Cl− current. CFTR activation by octanol was neither due to cell-to-cell uncoupling properties of octanol nor to an intracellular cAMP increase. CFTR activation by octanol requires phosphorylation by protein kinase-A (PKA) since it was prevented by H-89, a PKA inhibitor. n-Alkanols chain length was an important determinant for channel activation, with rank order of potencies: 1-heptanol<1-octanol<2-octanol<1-decanol. Our findings may be of valuable interest for developing novel therapeutic strategies for CF. PMID:14967738

General anesthetic octanol and related compounds activate wild-type and delF508 cystic fibrosis chloride channels.

PubMed

Marcet, Brice; Becq, Frédéric; Norez, Caroline; Delmas, Patrick; Verrier, Bernard

2004-03-01

1. Cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel is defective during cystic fibrosis (CF). Activators of the CFTR Cl(-) channel may be useful for therapy of CF. Here, we demonstrate that a range of general anesthetics like normal-alkanols (n-alkanols) and related compounds can stimulate the Cl(-) channel activity of wild-type CFTR and delF508-CFTR mutant. 2. The effects of n-alkanols like octanol on CFTR activity were measured by iodide ((125)I) efflux and patch-clamp techniques on three distinct cellular models: (1). CFTR-expressing Chinese hamster ovary cells, (2). human airway Calu-3 epithelial cells and (3). human airway JME/CF15 epithelial cells which express the delF508-CFTR mutant. 3. Our data show for the first time that n-alkanols activate both wild-type CFTR and delF508-CFTR mutant. Octanol stimulated (125)I efflux in a dose-dependent manner in CFTR-expressing cells (wild-type and delF508) but not in cell lines lacking CFTR. (125)I efflux and Cl(-) currents induced by octanol were blocked by glibenclamide but insensitive to 4,4'-diisothiocyanatostilbene-2,2'-disulfonic acid, as expected for a CFTR Cl(-) current. 4. CFTR activation by octanol was neither due to cell-to-cell uncoupling properties of octanol nor to an intracellular cAMP increase. CFTR activation by octanol requires phosphorylation by protein kinase-A (PKA) since it was prevented by H-89, a PKA inhibitor. 5. n-Alkanols chain length was an important determinant for channel activation, with rank order of potencies: 1-heptanol<1-octanol<2-octanol<1-decanol. Our findings may be of valuable interest for developing novel therapeutic strategies for CF.

NYX mutations in four families with high myopia with or without CSNB1

PubMed Central

Zhou, Lin; Song, Xiusheng; Li, Yin; Li, Hongyan; Dan, Handong

2015-01-01

Purpose Mutations in the NYX gene are known to cause complete congenital stationary night blindness (CSNB1), which is always accompanied by high myopia. In this study, we aimed to investigate the association between NYX mutations and high myopia with or without CSNB1. Methods Four Chinese families having high myopia with or without CSNB1 and 96 normal controls were recruited. We searched for mutations in the NYX gene using Sanger sequencing. Further analyses of the detected variations in the available family members were performed, and the frequencies of the detected variations in 96 normal controls were determined to verify our deduction. The effect of each variation on the nyctalopin protein was predicted using online tools. Results Four potential pathogenic variations in the NYX gene were found in four families with high myopia with or without CSNB1. Three of the four variants were novel (c.626G>C; c.121delG; c.335T>C). The previously identified variant, c.529_530delGCinsAT, was found in an isolated highly myopic patient and an affected brother, but the other affected brother did not carry the same variation. Further linkage analyses of this family showed a coinheritance of markers at MYP1. These four mutations were not identified in the 96 normal controls. Conclusions Our study expands the mutation spectrum of NYX for cases of high myopia with CSNB1; however, more evidence is needed to elucidate the pathogenic effects of NYX on isolated high myopia. PMID:25802485

Stroma provides an intestinal stem cell niche in the absence of epithelial Wnts.

PubMed

Kabiri, Zahra; Greicius, Gediminas; Madan, Babita; Biechele, Steffen; Zhong, Zhendong; Zaribafzadeh, Hamed; Edison; Aliyev, Jamal; Wu, Yonghui; Bunte, Ralph; Williams, Bart O; Rossant, Janet; Virshup, David M

2014-06-01

Wnt/β-catenin signaling supports intestinal homeostasis by regulating proliferation in the crypt. Multiple Wnts are expressed in Paneth cells as well as other intestinal epithelial and stromal cells. Ex vivo, Wnts secreted by Paneth cells can support intestinal stem cells when Wnt signaling is enhanced with supplemental R-Spondin 1 (RSPO1). However, in vivo, the source of Wnts in the stem cell niche is less clear. Genetic ablation of Porcn, an endoplasmic reticulum resident O-acyltransferase that is essential for the secretion and activity of all vertebrate Wnts, confirmed the role of intestinal epithelial Wnts in ex vivo culture. Unexpectedly, mice lacking epithelial Wnt activity (Porcn(Del)/Villin-Cre mice) had normal intestinal proliferation and differentiation, as well as successful regeneration after radiation injury, indicating that epithelial Wnts are dispensable for these processes. Consistent with a key role for stroma in the crypt niche, intestinal stromal cells endogenously expressing Wnts and Rspo3 support the growth of Porcn(Del) organoids ex vivo without RSPO1 supplementation. Conversely, increasing pharmacologic PORCN inhibition, affecting both stroma and epithelium, reduced Lgr5 intestinal stem cells, inhibited recovery from radiation injury, and at the highest dose fully blocked intestinal proliferation. We conclude that epithelial Wnts are dispensable and that stromal production of Wnts can fully support normal murine intestinal homeostasis.

A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family.

PubMed

Batissoco, A C; Auricchio, M T B M; Kimura, L; Tabith-Junior, A; Mingroni-Netto, R C

2009-02-01

Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild and the other profound nonsyndromic neurosensorial hearing impairment. Their father, who carried a wild-type allele and a p.L76P mutation, had normal hearing. The mutation leads to the substitution of leucine (L) by proline (P) at residue 76, an evolutionarily conserved position in Cx26 as well as in other connexins. This mutation is predicted to affect the first extracellular domain (EC1) or the second transmembrane domain (TM2). EC1 is important for connexon-connexon interaction and for the control of channel voltage gating. The segregation of the c.227C>T (p.L76P) mutation together with c.35delG in this family indicates a recessive mode of inheritance. The association between the p.L76P mutation and hearing impairment is further supported by its absence in a normal hearing control group of 100 individuals, 50 European-Brazilians and 50 African-Brazilians.

Condiciones Físicas en Nebulosas Gaseosas

NASA Astrophysics Data System (ADS)

Luridiana, V.

1999-03-01

El presente trabajo se ha enfocado a determinar y entender las condiciones físicas en una variedad de objetos nebulares, prestando particular atención al problema de la determinación de las abundancias químicas. Para este fin, hemos utilizado métodos analíticos en algunos casos, y modelos numéricos de fotoionización en otros. El objetivo general del trabajo es proveer de una visión amplia de las herramientas teórico-observacionales que se utilizan para la determinación de la estructura de temperatura y densidad de las regiones fotoionizadas, poniendo en evidencia posibles fuentes de errores sistemáticos y sus consecuencias para la determinación de las abundancias químicas, y proponiendo métodos para corregirlos. Los resultados principales de este trabajo est´n listados a continuación: a) Se discute el problema de la discrepancia entre T(C III) y T(O III) en las nebulosas planetarias, y se muestra como tal discrepancia implica probablemente la presencia de fluctuaciones de temperatura. Debido a que la temperatura de O++ es muy afectada por fluctuaciones de temperatura, se recomienda usar la temperatura de C++ para determinar la abundancia de carbono. b) Presentamos dos nuevos métodos para determinar la temperatura electrónica en nebulosas planetarias, basados en la medición de las intensidades de las líneas de He I. Las temperaturas que se obtienen a partir de estos métodos son menores que aquellas que se obtienen a partir de las líneas de [O III], implicando la presencia de fluctuaciones espaciales de temperatura. Despreciando las fluctuaciones de temperatura, se obtienen valores sesgados de las abundancias químicas. Determinamos las abundancias en las nebulosas planetarias de tipo I de algunos de los elementos más importantes, tomando en cuenta las fluctuaciones de temperatura. c) Presentamos modelos numéricos de las dos regiones H II extragalácticas gigantes NGC 2363 y NGC 5461. Con el modelaje numérico, pretendemos acotar las carácteristicas principales de las nubes ionizadas (distribución espacial del gas, estructura de ionización y de temperatura) y de los cúmulos ionizantes (función inicial de masa, historia de formación estelar, edad). En ambos casos, mostramos que con modelos numéricos calculados para el valor de metalicidad que se determina a partir de la temperatura de [O III], no es posible reproducir el espectro de emisión observado, y que para reproducir las restricciones más robustas es necesario subir la metalicidad de los modelos por un factor de 2. Esto constituye una fuerte indicación en favor de la presencia de fluctuaciones de temperatura. d) Para poder comparar los modelos numéricos con los datos observacionales. mostramos la importancia de corregir las predicciones de los modelos por el sesgo introducido por el tamaío finito de la rendija.

Field technique of permeability tests in highly fissured limestone strata

NASA Astrophysics Data System (ADS)

Al-Salihi, Adnan; Asaad, Abdulah

2002-05-01

Résumé.L'étude de dispositifs de dénoyage est nécessaire pour l'amélioration de sites avant la construction de certaines structures. L'étude de dispositifs de dénoyage efficaces exige d'estimer la valeur du coefficient de perméabilité in situ. Les relations disponibles pour estimer le coefficient de perméabilité ont été développées sur la base de mesures et de conditions de terrain limitées, et les prédictions varient de plusieurs ordres de grandeur. C'est pourquoi il est nécessaire de réaliser des mesures de perméabilité sur le terrain et de déterminer la relation qui permet le meilleur ajustement de ces mesures avant l'étude du dispositif de dénoyage pour des conditions locales et géologiques spécifiques. Ce papier présente des mesures de perméabilité sur le terrain dans des niveaux calcaires complexes chaotiques et diagénétisés. Il propose également une analyse comparative de plusieurs relations disponibles dans la littérature destinées à prédire le coefficient de perméabilité in situ. L'analyse est faite en conditions permanentes et non permanentes. Les résultats montrent que la valeur du coefficient de perméabilité dépend du niveau de la nappe, qui est affecté par le régime de marées. On montre que l'équation de l'US Navy donne la meilleure corrélation avec les mesures de terrain. Resumen.El diseño de sistemas de desecado es necesario para mejorar las condiciones de un emplazamiento antes de la construcción de determinadas estructuras. El diseño de un sistema eficiente de desecado requiere de la estimación del valor de la permeabilidad in-situ. Las relaciones disponibles para tal fin han sido desarrolladas bajo condiciones y medidas de campo limitadas; sus predicciones varían en algunos órdenes de magnitud. Por tanto, es necesario tomar medidas de permeabilidad en campo y determinar la relación que reproduce mejor dichas medidas como paso previo al diseño de un sistema de desecado en condiciones geológicas y de emplazamiento específicas. Este artículo presenta medidas de permeabilidad en campo para estratos de calcita caóticos y diagenéticos. También ofrece un análisis comparativo de diversas relaciones disponibles en la bibliografía con el fin de predecir el valor de la permeabilidad in-situ. El análisis se ha hecho tanto en régimen permanente como en estacionario. Los resultados demuestran que la permeabilidad depende del nivel freático, el cual está afectado por las mareas. La ecuación de la Marina estadounidense es la que proporciona una mejor correlación con las medidas de campo.

Financial impact of nursing professionals staff required in an Intensive Care Unit.

PubMed

Araújo, Thamiris Ricci de; Menegueti, Mayra Gonçalves; Auxiliadora-Martins, Maria; Castilho, Valéria; Chaves, Lucieli Dias Pedreschi; Laus, Ana Maria

2016-11-21

to calculate the cost of the average time of nursing care spent and required by patients in the Intensive Care Unit (ICU) and the financial expense for the right dimension of staff of nursing professionals. a descriptive, quantitative research, using the case study method, developed in adult ICU patients. We used the workload index - Nursing Activities Score; the average care time spent and required and the amount of professionals required were calculated using equations and from these data, and from the salary composition of professionals and contractual monthly time values, calculated the cost of direct labor of nursing. the monthly cost of the average quantity of available professionals was US$ 35,763.12, corresponding to 29.6 professionals, and the required staff for 24 hours of care is 42.2 nurses, with a monthly cost of US$ 50,995.44. the numerical gap of nursing professionals was 30% and the monthly financial expense for adaptation of the structure is US$ 15,232.32, which corresponds to an increase of 42.59% in the amounts currently paid by the institution. calcular o custo do tempo médio de assistência de enfermagem despendido e requerido pelos pacientes internados em Unidade de Terapia Intensiva (UTI) e o dispêndio financeiro para adequação do quadro de profissionais de enfermagem. pesquisa descritiva, quantitativa, na modalidade de estudo de caso, desenvolvida na UTI de pacientes adultos. Utilizou-se o índice de carga de trabalho - Nursing Activities Score; o tempo médio de assistência despendido, requerido e o quantitativo de profissionais requerido foram calculados por meio de equações e, a partir desses dados, e de valores da composição salarial dos profissionais e tempo mensal contratual, calculou-se o custo da mão de obra direta de enfermagem. o custo mensal do quantitativo médio de profissionais disponível foi de US$ 35.763,12, correspondendo a 29,6 profissionais, e o requerido para 24 horas de cuidado é de 42,2 profissionais de enfermagem, com custo mensal de US$ 50.995,44. a defasagem numérica de profissionais da enfermagem foi de 30% e o dispêndio financeiro mensal para adequação do quadro é de US$ 15.232,32, o que corresponde a um acréscimo de 42,59% nos valores atualmente desembolsados pela instituição. calcular el costo del tiempo promedio de asistencia de enfermería invertido y requerido por los pacientes internados en la unidad de cuidados intensivos (UCI) y el gasto para la adecuación de la dotación de profesionales de enfermería. investigación descriptiva y cuantitativa en la modalidad de estudio de caso desarrollada en la UCI de pacientes adultos. Se utilizó el índice de carga de trabajo Nursing Activities Score; el tiempo promedio de asistencia invertido y requerido y la cantidad de profesionales necesaria se calculó con ecuaciones y, a partir de estos datos y de los valores de la composición de salario de los profesionales y el tiempo de contrato mensual, se calculó el costo de la mano de obra directa de enfermería. el costo mensual de la cantidad promedio de profesionales disponible fue de US$ 35,763.12, que corresponde a 29.6 profesionales, mientras que el requerido para 24 horas de atención es de 42.2 profesionales de enfermería, con un costo mensual de US$ 50,995.44. el desfase numérico de profesionales de enfermería fue de 30% y el gasto mensual para la adecuación de la dotación es de US$ 15,232.32, que corresponde a un incremento de 42.59% en los valores que actualmente desembolsa la institución.

Deleterious CHEK2 1100delC and L303X mutants identified among 38 human breast cancer cell lines.

PubMed

Wasielewski, Marijke; Hanifi-Moghaddam, Pejman; Hollestelle, Antoinette; Merajver, Sofia D; van den Ouweland, Ans; Klijn, Jan G M; Ethier, Stephen P; Schutte, Mieke

2009-01-01

The CHEK2 protein plays a major role in the regulation of DNA damage response pathways. Mutations in the CHEK2 gene, in particular 1100delC, have been associated with increased cancer risks, but the precise function of CHEK2 mutations in carcinogenesis is not known. Human cancer cell lines with CHEK2 mutations are therefore of main interest. Here, we have sequenced 38 breast cancer cell lines for mutations in the CHEK2 gene and identified two cell lines with deleterious CHEK2 mutations. Cell line UACC812 has a nonsense truncating mutation in the CHEK2 kinase domain (L303X) and cell line SUM102PT has the well-known oncogenic CHEK2 1100delC founder mutation. Immunohistochemical analysis revealed that the two CHEK2 mutant cell lines expressed neither CHEK2 nor P-Thr(68) CHEK2 proteins, implying abrogation of normal CHEK2 DNA repair functions. Cell lines UACC812 and SUM102PT thus are the first human CHEK2 null cell lines reported and should therefore be a major help in further unraveling the function of CHEK2 mutations in carcinogenesis.

Age and evolution of thin-skinned deformation in Zacatecas, Mexico: Sevier orogeny evidence in the Mexican Fold-Thrust Belt

NASA Astrophysics Data System (ADS)

Ramírez-Peña, César Francisco; Chávez-Cabello, Gabriel

2017-07-01

Integrating U-Pb ages from zircons of syn- and postectonic intrusives emplaced in folded pre- and synorogenic marine sedimentary rocks, it is proposed that thin-skinned deformation in the Concepción del Oro salient of the Mexican Fold Thrust Belt in northern Zacatecas, Mexico, was active between 92 and 71.6 Ma. The intrusives Pico de Teyra and El Peñuelo (U-Pb zircon ages: 76.9 and 72.5 Ma) show internal tectonic foliations and horizontal shear zones that cut off aplitic veins, which apparently developed syntectonically to thin-skinned deformation. Other intrusives like Saltillito (71.6 Ma) and Concepción del Oro are clearly postectonic because they are undeformed internally, cut regional structures and are younger than syntectonic plutons. Biostratigraphic ages reported for synorogenic sediments (Concepción del Oro and Parras formations) indicate that regional thin-skinned deformation was active between Early Turonian and Late Campanian, which is in agreement with syn and postectonic intrusive emplacement ages in the area. Nevertheless, the thin-skinned structures are disrupted by a younger NNW-SSE high angle reverse and normal faults that uplifts the San Julián Block in the west and truncate the Concepción del Oro salient, suggesting a post-Paleocene thick-skinned stage of deformation. In this work, we propose that style and age of thin-skinned deformation is similar to the Sevier orogeny in the Rocky Mountains.

Identification of a New Modulator of the Intercalated Disc in a Zebrafish Model of Arrhythmogenic Cardiomyopathy

PubMed Central

Asimaki, Angeliki; Kapoor, Sudhir; Plovie, Eva; Arndt, Anne Karin; Adams, Edward; Liu, ZhenZhen; James, Cynthia A.; Judge, Daniel P.; Calkins, Hugh; Churko, Jared; Wu, Joseph C.; MacRae, Calum A.; Kléber, André G.; Saffitz, Jeffrey E.

2015-01-01

Arrhythmogenic cardiomyopathy (ACM) is characterized by frequent cardiac arrhythmias. To elucidate the underlying mechanisms and discover potential chemical modifiers, we created a zebrafish model of ACM with cardiac myocyte–specific expression of the human 2057del2 mutation in the gene encoding plakoglobin. A high-throughput screen identified SB216763 as a suppressor of the disease phenotype. Early SB216763 therapy prevented heart failure and reduced mortality in the fish model. Zebrafish ventricular myocytes that expressed 2057del2 plakoglobin exhibited 70 to 80% reductions in INa and IK1 current densities, which were normalized by SB216763. Neonatal rat ventricular myocytes that expressed 2057del2 plakoglobin recapitulated pathobiological features seen in patients with ACM, all of which were reversed or prevented by SB216763. The reverse remodeling observed with SB216763 involved marked subcellular redistribution of plakoglobin, connexin 43, and Nav1.5, but without changes in their total cellular content, implicating a defect in protein trafficking to intercalated discs. In further support of this mechanism, we observed SB216763-reversible, abnormal subcellular distribution of SAP97 (a protein known to mediate forward trafficking of Nav1.5 and Kir2.1) in rat cardiac myocytes expressing 2057del2 plakoglobin and in cardiac myocytes derived from induced pluripotent stem cells from two ACM probands with plakophilin-2 mutations. These observations pinpoint aberrant trafficking of intercalated disc proteins as a central mechanism in ACM myocyte injury and electrical abnormalities. PMID:24920660

Congenital deficiency of alpha feto-protein.

PubMed

Sharony, Reuven; Zadik, Idit; Parvari, Ruti

2004-10-01

Alpha-fetoprotein (AFP) is the main fetus serum glycoprotein with a very low concentration in the adult. AFP deficiency is a rare phenomenon. We studied two families with congenital AFP deficiency and searched for mutations in the AFP gene. We identified one mutation of 2 base deletion in exon 8, in both families, that leads to the congenital deficiency of AFP. The mutation nt930-931delCT (T294fs25X) creates a frameshift after codon 294 that leads to a stop codon after 24 amino acids, thus truncating the normal length of AFP of 609 amino acids. All the affected children were found to be homozygous for the mutation as was one of the fathers. The affected individuals were asymptomatic and presented normal development. This first identification of a mutation in the AFP gene demonstrates for the first time that deficiency of AFP is compatible with human normal fetal development and further reproduction in males.

Lignin Valorization: Emerging Approaches

DOE Office of Scientific and Technical Information (OSTI.GOV)

Beckham, Gregg T

Lignin, an aromatic biopolymer found in plant cell walls, is a key component of lignocellulosic biomass and generally utilized for heat and power. However, lignin's chemical composition makes it an attractive source for biological and catalytic conversion to fuels and chemicals. Bringing together experts from biology, catalysis, engineering, analytical chemistry, and techno-economic/life-cycle analysis, Lignin Valorization presents a comprehensive, interdisciplinary picture of how lignocellulosic biorefineries could potentially employ lignin valorization technologies. Chapters will specifically focus on the production of fuels and chemicals from lignin and topics covered include (i) methods for isolating lignin in the context of the lignocellulosic biorefinery, (ii)more » thermal, chemo-catalytic, and biological methods for lignin depolymerization, (iii) chemo-catalytic and biological methods for upgrading lignin, (iv) characterization of lignin, and (v) techno-economic and life-cycle analysis of integrated processes to utilize lignin in an integrated biorefinery. The book provides the latest breakthroughs and challenges in upgrading lignin to fuels and chemicals for graduate students and researchers in academia, governmental laboratories, and industry interested in biomass conversion.« less

Citrus waste as feedstock for bio-based products recovery: Review on limonene case study and energy valorization.

PubMed

Negro, Viviana; Mancini, Giuseppe; Ruggeri, Bernardo; Fino, Debora

2016-08-01

The citrus peels and residue of fruit juices production are rich in d-limonene, a cyclic terpene characterized by antimicrobial activity, which could hamper energy valorization bioprocess. Considering that limonene is used in nutritional, pharmaceutical and cosmetic fields, citrus by-products processing appear to be a suitable feedstock either for high value product recovery or energy bio-processes. This waste stream, more than 10MTon at 2013 in European Union (AIJN, 2014), can be considered appealing, from the view point of conducting a key study on limonene recovery, as its content of about 1%w/w of high value-added molecule. Different processes are currently being studied to recover or remove limonene from citrus peel to both prevent pollution and energy resources recovery. The present review is aimed to highlight pros and contras of different approaches suggesting an energy sustainability criterion to select the most effective one for materials and energy valorization. Copyright © 2016 Elsevier Ltd. All rights reserved.

The protein fraction from wheat-based dried distiller's grain with solubles (DDGS): extraction and valorization

PubMed Central

Villegas-Torres, M.F.; Ward, J.M.; Lye, G.J.

2015-01-01

Nowadays there is worldwide interest in developing a sustainable economy where biobased chemicals are the lead actors. Various potential feedstocks are available including glycerol, rapeseed meal and municipal solid waste (MSW). For biorefinery applications the byproduct streams from distilleries and bioethanol plants, such as wheat-based dried distiller's grain with solubles (DDGS), are particularly attractive, as they do not compete for land use. Wheat DDGS is rich in polymeric sugars, proteins and oils, making it ideal as a current animal feed, but also a future substrate for the synthesis of fine and commodity chemicals. This review focuses on the extraction and valorization of the protein fraction of wheat DDGS as this has received comparatively little attention to date. Since wheat DDGS production is expected to increase greatly in the near future, as a consequence of expansion of the bioethanol industry in the UK, strategies to valorize the component fractions of DDGS are urgently needed. PMID:25644639

Recharge areas and hydrochemistry of carbonate springs issuing from Semmering Massif, Austria, based on long-term oxygen-18 and hydrochemical data evidence

NASA Astrophysics Data System (ADS)

Yehdegho, Beyene; Reichl, Peter

2002-10-01

Résumé. Les teneurs en oxygène-18 et l'hydrochimie des sources émergeant du massif de Semmering ont été suivies de manière intensive dans le but de caractériser les zones de recharge et l'évolution hydrochimique. L'effet d'altitude sur le δ18O a été déterminé grâce aux données isotopiques et hydrogéologiques de petites sources de référence, principalement en terrains cristallins; cet effet est d'environ -0,27 et -0,21‰ par 100 m pour les versants respectivement nord et sud du massif. En appliquant ces valeurs, l'altitude moyenne de recharge des sources a été calculée. Pour les sources à fort débit issues des carbonates, elle est comprise entre 1,100 et 1,400 m, compatible avec le cadre topographique et hydrogéologique des calcaires et des dolomies de l'Austro-alpin inférieur alimentant ces sources. La composition chimique des sources des carbonates est dominée par les ions Ca2+, Mg2+, HCO3- et SO42-. Les sources sont presque toutes proches de la saturation par rapport à la calcite, mais sont sous-saturées en dolomite (sauf quelques sources proches de la saturation). Comme cela est habituel en ce qui concerne le dioxyde de carbone fourni par les sols en régions montagneuses, la pCO2 équilibrante moyenne est faible, comprise entre 10-3.0 et 10-2.5 atm (0,1 à 0,3% en volume). En ce qui concerne les variations à long terme, le pH, SIc, Sid et la pCO2 équilibrante sont soumis à des variations saisonnières, alors que les concentrations en Ca2+, Mg2+ et HCO3- ne varient pratiquement pas. En intégrant les résultats de δ18O et les données hydrochimiques, la variabilité altitudinale du chimisme des eaux souterraines des carbonates est démontrée. Reflétant les variations d'activité biologique et des conditions de recharge dans les zones d'alimentation, une covariation négative résulte de l'altitude de recharge et de la pCO2 et la concentration en HCO3- n'est pas modifiée par aucun des termes source ou puits, ce qui fait varier la chimie des carbonates. La pCO2 et la concentration en HCO3- diminuent respectivement d'environ 0,22 unité log (atm) et 38,6 mg/l pour un accroissement de 100 m de l'altitude de recharge. Resumen. Se ha muestreado exhaustivamente el contenido en oxígeno-18 y la hidroquímica de los manantiales existentes en el macizo de Semmering (Austria) con el fin de caracterizar las áreas de recarga y su evolución hidroquímica. Se ha determinado el efecto altitudinal del δ18O con datos isotópicos e hidrogeológicos obtenidos en pequeños manantiales originados en rocas cristalinas que sirven como nivel de referencia; los resultados han sido de -0,27‰ por cada 100 m en la zona Morte del macizo, y de -0,21‰/100 m hacia el Sur. Aplicando estos valores, se ha calculado la altitud promedio a la que se produce su recarga. Para los manantiales de caudal elevado en materiales carbonatados, la altitud de recarga varía entre 1.100 y 1.410 m, cosa que es compatible con el marco topográfico e hidrogeológico de las rocas calizas y dolomíticas Mesozoicas propias del Austroalpino Bajo que los alimenta. La composición hidroquímica de los manantiales carbonatados está dominada por los iones calcio, magnesio, bicarbonato y sulfato. Los manantiales están casi saturados en calcita, pero subsaturados en dolomita, excepto en algunos que parecen hallarse cerca de la saturación. Como caracteriza a los suelos en regiones montañosas, la presión parcial de equilibrio del dióxido de carbono (PCO2) es baja, con valores comprendidos entre 10-3,0 y 10-2,5 atm. A largo plazo, el pH y los valores calculados de los índices de saturación en calcita (SIc) y en dolomita (SId), junto con la PCO2 en equilibrio, evidencian una fuerte estacionalidad; en cambio, las concentraciones de calcio, magnesio y bicarbonato prácticamente no varían. Integrando los resultados de δ18O y de la hidroquímica, se demuestra la variabilidad de la química de aguas subterráneas carbonatadas con respecto a la altitud. Reflejando el cambio sistemático de la actividad biótica y de las condiciones de recarga en la cuenca, se obtiene una correlación negativa entre la altitud de la recarga y la PCO2, mientras que la concentración de bicarbonato no es modificada por términos fuente/sumidero, lo cual atribuye el cambio a la química de los carbonatos. La PCO2 y el bicarbonato disminuyen aproximadamente 0,22 unidades logarítimicas (en atmósferas) y 38,6 mg/l, respectivamente, por cada 100 m de incremento en la altitud de recarga.

EMBO workshop al fin del mundo: a meeting on membrane trafficking and its implication for polarity and diseases.

PubMed

Marzolo, María-Paz; Faundez, Victor; Galli, Thierry

2015-07-01

The EMBO worskhop at the "end of the world'" (al fin del mundo), a meeting on membrane trafficking and its implication for polarity and diseases, took place in the Chilean Patagonia surrounded by the landscapes once witnessed by Charles Darwin. The meeting showcased some of the best membrane trafficking science with an emphasis in neuroscience and disease models. Speakers from Europe, USA, South America and the graduate students behind it; embarked on an enthusiastic and eclectic dialog where a wide range of cell types, model genetic systems, and diseases where discussed. This meeting demonstrated the power of trafficking concepts to integrate diverse biology and to formulate mechanisms of normal and disease cells. © 2015 Société Française des Microscopies and Société de Biologie Cellulaire de France. Published by John Wiley & Sons Ltd.

Simulation of groundwater drainage into a tunnel in fractured rock and numerical analysis of leakage remediation, Romeriksporten tunnel, Norway

NASA Astrophysics Data System (ADS)

Kitterød, N.-O.; Colleuille, H.; Wong, W. K.; Pedersen, T. S.

2000-09-01

Standard geostatistical methods for simulation of heterogeneity were applied to the Romeriksporten tunnel in Norway, where water was leaking through high-permeable fracture zones into the tunnel while it was under construction, causing drainage problems on the surface. After the tunnel was completed, artificial infiltration of water into wells drilled from the tunnel was implemented to control the leakage. Synthetic heterogeneity was generated at a scale sufficiently small to simulate the effects of remedial actions that were proposed to control the leakage. The flow field depends on the variance of permeabilities and the covariance model used to generate the heterogeneity. Flow channeling is the most important flow mechanism if the variance of the permeability field is large compared to the expected value. This condition makes the tunnel leakage difficult to control. The main effects of permeability changes due to sealing injection are simulated by a simple perturbation of the log-normal probability density function of the permeability. If flow channeling is the major transport mechanism of water into the tunnel, implementation of artificial infiltration of water to control the leakage requires previous chemical-sealing injection to be successful. Résumé. Des méthodes géostatistiques standard ont été employées pour simuler l'hétérogénéité des zones de fractures à fortes perméabilitées dans lesquelles, au cours de la construction du tunnel ferroviaire de Romeriksporten (Norvège), l'eau s'est écoulée, causant des problèmes de drainage en surface. Quand les travaux ont été terminés, l'injection d'eau dans des puits forés à partir du tunnel a été réalisée pour contrôler ces infiltrations. Une hétérogénéité synthétique a été créée à une échelle suffisamment petite pour simuler les effets de l'injection d'eau. Le champ des écoulements dépend de la variance des perméabilités et de la covariance du modèle utilisé pour générer l'hétérogénéité. La chenalisation de l'écoulement est le mécanisme d'écoulement le plus important si la variance du champ de perméabilité est grande par rapport à la valeur moyenne. Cette condition fait que les infiltrations dans le tunnel sont difficiles à contrôler. L'étanchéification du tunnel par des produits chimiques est simulé par une simple perturbation de la fonction de densité de probabilité log-normale de la perméabilité. Si la chenalisation de l'écoulement est le principal mécanisme de transport d'eau entrant dans le tunnel, la création d'une injection artificielle de l'eau pour contrôler l'infiltration dans le tunnel impose, pour réussir, une imperméabilisation préalable par des produits chimiques. Resumen. Se han aplicado métodos estadísticos convencionales para la simulación de la heterogeneidad en el túnel de Roeriksporte (Noruega), donde la presencia de agua en zonas fracturadas de alta permeabilidad originó problemas de drenaje en superficie durante su construcción. Una vez finalizado el túnel, para controlar la infiltración se inyectó agua en los pozos situados en su interior. La generación del campo heterogéneo se realizó a una escala lo suficientemente pequeña que permitiera simular los efectos de las medidas de control propuestas. El campo de flujo depende de la varianza de las permeabilidades y del modelo de covarianza utilizado para generar la heterogeneidad. El flujo a través de canales es el mecanismo dominante si la varianza del campo de permeabilidad es grande en relación con el valor esperado. Este hecho condiciona que las filtraciones en el túnel sean difíciles de controlar. Los principales efectos de los cambios de permeabilidad originados por las inyecciones para el sellado del túnel se simularon mediante una simple perturbación de la función de densidad de probabilidad lognormal de la permeabilidad. Si el flujo a través de canales es el principal mecanismo de la presencia de agua en el túnel, el control de las filtraciones mediante técnicas de inyección de agua en pozos de recarga requiere de la inyección previa de un producto químico para el sellado de las fisuras.

Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.

PubMed

Barnes, Aileen M; Cabral, Wayne A; Weis, MaryAnn; Makareeva, Elena; Mertz, Edward L; Leikin, Sergey; Eyre, David; Trujillo, Carlos; Marini, Joan C

2012-11-01

Recessive osteogenesis imperfecta (OI) is caused by defects in genes whose products interact with type I collagen for modification and/or folding. We identified a Palestinian pedigree with moderate and lethal forms of recessive OI caused by mutations in FKBP10 or PPIB, which encode endoplasmic reticulum resident chaperone/isomerases FKBP65 and CyPB, respectively. In one pedigree branch, both parents carry a deletion in PPIB (c.563_566delACAG), causing lethal type IX OI in their two children. In another branch, a child with moderate type XI OI has a homozygous FKBP10 mutation (c.1271_1272delCCinsA). Proband FKBP10 transcripts are 4% of control and FKBP65 protein is absent from proband cells. Proband collagen electrophoresis reveals slight band broadening, compatible with ≈10% over-modification. Normal chain incorporation, helix folding, and collagen T(m) support a minimal general collagen chaperone role for FKBP65. However, there is a dramatic decrease in collagen deposited in culture despite normal collagen secretion. Mass spectrometry reveals absence of hydroxylation of the collagen telopeptide lysine involved in cross-linking, suggesting that FKBP65 is required for lysyl hydroxylase activity or access to type I collagen telopeptide lysines, perhaps through its function as a peptidylprolyl isomerase. Proband collagen to organics ratio in matrix is approximately 30% of normal in Raman spectra. Immunofluorescence shows sparse, disorganized collagen fibrils in proband matrix. Published 2012 Wiley Periodicals, Inc.*This article is a US Government work and, as such, is in the public domain of the United States of America.

Strange Stars, Neutron Stars and Pulsar Emission

NASA Astrophysics Data System (ADS)

Benvenuto, O. G.; Horvath, J. E.

1990-11-01

RESUMEN. Se ha conjeturado que una partlecula de dieciocho quarks, sin Carga, sin espi'n y sin colar (quark-alfa) podri'a ser estable a ba5as tern peraturas y presiones aiTh COfl respecto a materia extrafla. Presentamos en este trabajo la estmctura de estrellas extraflas incluyendo los efectos y apariencia de parti'culas uark-alfa en las capas exteriores. La estruc tura interna ya no es hoinogenea del centro a la superficie, sino que muestra un centro de materia extrafla, capas s6lidas y una costra delgada de materia normal en la superficie. La superficie de materia nonnal permite la fornaci6n de una magnetosfera, la que se piensa sea el sitlo en donde ocurre la emisi6n del pulsar. La superficie de superflui'do ayuda a explicar el fen6rneno de `glitch', el cual ba sido observado en muchos pulsares. Se discute la ecuaci6n de estado para rnateria quark-alfa relevante en este regimen. ABSTIZACT:It has been conjectured that an quark, uncharged, spinless and colorless particle Cquark-alpha) could be stable at low pressures and temperatures even with respect to strange matter. We present in work tlie structure of stars including the effects of the appearance of quark-alpi' particles ii their outer layers. The internal structure is no longer from tlie center to the surface, but show a strange matter core, a solid and superfluid layers and a thin crust of normal matter at the surface. The normal matter surface allows tlie fon tion of a magnetosphere, whicl is to be tl place where pulsar emission occurs. A superfluid layer helps to explain tlie glitch , wlflch has been observed in . equation of state for quark-alpha matter relevant in regime is also discussed. Keq LA)OtL : ARY S - OF STATF - ?.ACT

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.

PubMed

Wesdorp, Mieke; van de Kamp, Jiddeke M; Hensen, Erik F; Schraders, Margit; Oostrik, Jaap; Yntema, Helger G; Feenstra, Ilse; Admiraal, Ronald J C; Kunst, Henricus P M; Tekin, Mustafa; Kanaan, Moien; Kremer, Hannie; Pennings, Ronald J E

2017-04-01

DFNB28 is characterized by prelingual, severe to profound sensorineural hearing impairment (HI). It is associated with mutations in exon 6 and 7 of TRIOBP and has not been reported in the European population. Here, we describe two isolated cases of Dutch origin with congenital, moderate HI and compound heterozygous mutations in TRIOBP. Three of the mutations are novel, one nonsense mutation (c.5014G>T (p.Gly1672*)) and two frameshift mutations (c.2653del (p.Arg885Alafs*120) and c.3460_3461del (p.Leu1154Alafs*29)). The fourth mutation is the known c.3232dup (p.Arg1078Profs*6) mutation. Longitudinal audiometric analyses in one of the subjects revealed that HI was stable over a period of 15 years. Vestibular function was normal. Predicted effects of the mutations do not explain the relatively mild phenotype in the presented subjects, whereas location of the mutation might well contribute to the milder HI in one of the subjects. It is known that isoform classes TRIOBP-4 and TRIOBP-5 are important for stereocilia stability and rigidity. To our knowledge, p.Gly1672* is the first pathogenic variant identified in DFNB28 that does not affect isoform class TRIOBP-4. This suggests that a single TRIOBP copy to encode wildtype TRIOBP-4 is insufficient for normal hearing, and that at least one TRIOBP copy to encode TRIOBP-5 is indispensable for normal inner ear function. Furthermore, this study demonstrates that DFNB28 can be milder than reported so far and that mutations in TRIOBP are thus associated with a heterogeneous phenotype. Copyright © 2017 Elsevier B.V. All rights reserved.

Dual-porosity modeling of groundwater recharge: testing a quick calibration using in situ moisture measurements, Areuse River Delta, Switzerland

NASA Astrophysics Data System (ADS)

Alaoui, Abdallah; Eugster, Werner

A simple method for calibrating the dual-porosity MACRO model via in situ TDR measurements during a brief infiltration run (2.8 h) is proposed with the aim of estimating local groundwater recharge (GR). The recharge was modeled firstly by considering the entire 3 m of unsaturated soil, and secondly by considering only the topsoil to the zero-flux plane (0-0.70 m). The modeled recharge was compared against the GR obtained from field measurements. Measured GR was 313 mm during a 1-year period (15 October 1990-15 October 1991). The best simulation results were obtained when considering the entire unsaturated soil under equilibrium conditions excluding the macropore flow effect (330 mm), whereas under non-equilibrium conditions GR was overestimated (378 mm). Sensitivity analyses showed that the investigation of the topsoil is sufficient in estimating local GR in this case, since the water stored below this depth appears to be below the typical rooting depth of the vegetation and is not available for evapotranspiration. The modeled recharge under equilibrium conditions for the 0.7-m-topsoil layer was found to be 364 mm, which is in acceptable agreement with measurements. Une méthode simple pour la calibration du modèle à double porosité MACRO par des mesures TDR in situ durant un bref essai d'infiltration (2.8 h) a été proposée pour l'estimation locale de la recharge de la nappe (RN). La RN a été d'abord simulée en tenant compte de toute la zone non saturée (3 m) et ensuite, en considérant uniquement la couverture du sol entre zéro et le plan du flux nul (0.70 m). La RN simulée a été comparée à la RN observée. La RN mesurée durant une année (15 octobre 1990-15 octobre 1991) était de 313 mm. Les meilleures simulations ont été obtenues en tenant compte de toute la zone non saturée sous les conditions d'équilibre excluant le flux préférentiel (330 mm). Sous les conditions de non équilibre, la RN a été surestimée (378 mm). Les analyses de sensitivité ont montré que l'investigation de la couverture du sol est suffisante pour l'estimation locale de la RN du fait que l'eau traversant le plan du flux nul se trouverait sous la zone des racines et échapperait à l'évapotranspiration. La RN simulée sur les 0.70 m du sol sous les conditions d'équilibre était de 364 mm, ce qui est comparable aux mesures. Se propone un método sencillo para calibrar el modelo de doble porosidad "MACRO" mediante medidas in-situ obtenidas por TDR durante un breve ensayo de infiltración (2,8 horas), con el objetivo de estimar la recarga local al acuífero. Ésta ha sido modelada de dos formas: considerando los 3 m de suelo no saturado y empleando sólo desde la capa superior hasta el plano de flujo nulo (de 0 a 0,70 m). Se compara la recarga modelada con la recarga local medida en campo, la cual fue de 313 mm durante un ciclo anual (del 15 de octubre de 1990 al 15 de octubre de 1991). Las mejores simulaciones corresponden a la hipótesis de columna entera no saturada en condiciones de equilibrio, excluyendo el efecto de macroporos (valor de 330 mm), mientras que el resultado obtenido para condiciones de no equilibrio en la recarga local está sobreestimado (378 mm). Los análisis de sensibilidad muestran que la investigación del horizonte superior del suelo es suficiente para estimar la recarga local en este caso, ya que el agua almacenada por debajo de esta profundidad parece estar fuera del alcance típico de las raíces de la vegetación y no puede ser evapotranspirada. La recarga modelada en condiciones de equilibrio para la capa superior de 0,70 m de espesor es de 364 mm, valor aceptable respecto a las medidas.

FUS and TDP43 genetic variability in FTD and CBS

PubMed Central

Huey, Edward D.; Ferrari, Raffaele; Moreno, Jorge H.; Jensen, Christopher; Morris, Christopher M.; Potocnik, Felix; Kalaria, Rajesh N.; Tierney, Michael; Wassermann, Eric M.; Hardy, John; Grafman, Jordan; Momeni, Parastoo

2015-01-01

This study aimed to evaluate genetic variability in the FUS and TDP-43 genes, known to be mainly associated with amyotrophic lateral sclerosis (ALS), in patients with the diagnoses of frontotemporal lobar degeneration (FTLD) and corticobasal syndrome (CBS). We screened the DNA of 228 patients for all the exons and flanking introns of FUS and TDP-43 genes. We identified 2 novel heterozygous missense mutations in FUS: P106L (g.22508384>T) in a patient with behavioral variant frontotemporal dementia (bvFTD) and Q179H in several members of a family with behavioral variant FTD. We also identified the N267S mutation in TDP-43 in a CBS patient, previously only reported in 1 ALS family and 1 FTD patient. Additionally, we identified 2 previously reported heterozygous insertion and deletion mutations in Exon 5 of FUS; Gly174-Gly175 del GG (g. 4180–4185 delGAGGTG) in an FTD patient and Gly175-Gly176 ins GG (g. 4185–4186 insGAGGTG) in a patient with diagnosis of CBS. Not least, we have found a series of variants in FUS also in neurologically normal controls. In summary, we report that genetic variability in FUS and TDP-43 encompasses a wide range of phenotypes (including ALS, FTD, and CBS) and that there is substantial genetic variability in FUS gene in neurologically normal controls. PMID:21943958

Anatomic and Radiologic Study of Renal Avascular Plane (Brödel's Line) and Its Potential Relevance on Percutaneous and Surgical Approaches to the Kidney.

PubMed

Macchi, Veronica; Picardi, Edgardo; Inferrera, Antonino; Porzionato, Andrea; Crestani, Alessandro; Novara, Giacomo; De Caro, Raffaele; Ficarra, Vincenzo

2018-02-01

The aim of the present anatomic and radiologic study was to evaluate the location, extension, and characteristics of the Brödel's plane and eventually define its different patterns. We evaluated 15 human normal kidneys sampled from unembalmed cadavers without clinical history or anatomical evidence of renal diseases. Kidneys with the surrounding perirenal fat tissue were removed en bloc with the abdominal segment of the aorta. The renal artery was injected with acrylic and radiopaque resins. A CT examination of the injected kidneys was performed. After the imaging acquisition, the specimens were treated with sodium hydroxide for removal of the parenchyma to obtain the vascular casts. All the CT images were elaborated using dedicated three-dimensional (3D) software with the aim to improve the possibility to identify the Brödel's plane. The avascular plane was identified directly on the vascular casts and confirmed on the corresponding 3D images. The avascular plane was located in all cases medially to the lateral convex border of the kidneys. The recorded mean distance was 2.04 cm (range 1.8-2.4 cm). Three patterns of distribution of the Brödel's line were identified. In five (33.3%) cases the avascular plane was extended from the apical to the inferior segment of the kidneys (type 1); in six (40%) from the superior to the inferior segment (type 2); and in four (26.7%) from the apical to the middle segment (type 3). Fourth and fifth order vessels crossing the Brödel's line were detected in all the analyzed cases. The renal avascular plane showed a different extension allowing us to cluster three different patterns. Preoperative identification of the Brödel's line patterns could help surgeons to minimize hemorrhagic complications during percutaneous and surgical procedures requiring an incision of the renal parenchyma such as traditional or robot-assisted nephrolithotomy or partial nephrectomy for endophytic renal tumors. Radiologic studies validated that the described patterns in the clinical practice are strongly needed.

Association between ovine protein polymorphisms and geographical variables in Europe and south-west Asia.

PubMed

Ordas, J G; Carriedo, J A

1997-01-12

The spatial distribution of six blood-protein polymorphisms in European and south-west Asian ovine breeds was analysed. Latitudinal clines were found for haemoglobin and transferrin loci. The respective F(ST) values are not significantly greater than those for protein-X, esterase, carbonic anhydrase, and albumin, where gene frequencies are not associated with latitude. The results suggest that historical processes of gene flow, rather than adaptation to different environments, have played a major role in determining the observed lives of gene frequencies. RESUMEN: Asociación entre polimorfismos proteicos ovinos y variables geográficas en Europa y sudoeste de Asia Se ha analizado la distribución espacial de seis polimorfismos proteicos sanguíneos en razas ovinas de Europa y del sudoeste de Asia. La hemoglobina y la transferrina muestran clinas latitudinales. Los valores de F(ST) para estos dos loci no son significativamente más grandes que los de la proteína-X, esterasa, anhidrasa carbónica y albúmina, cuyas frecuencias génicas no están asociadas con la latitud. Los resultados sugieren que la distribución de las frecuencias génicas de la hemoglobina y la transferrina se debe a procesos históricos de flujo génico y deriva genética. 1997 Blackwell Verlag GmbH.

Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the Oguchi form of congenital stationary night blindness

PubMed Central

Khani, Shahrokh C.; Nielsen, Lori; Vogt, Todd M.

1998-01-01

Rhodopsin kinase (RK), a rod photoreceptor cytosolic enzyme, plays a key role in the normal deactivation and recovery of the photoreceptor after exposure to light. To date, three different mutations in the RK locus have been associated with Oguchi disease, an autosomal recessive form of stationary night blindness in man characterized in part by delayed photoreceptor recovery [Yamamoto, S., Sippel, K. C., Berson, E. L. & Dryja, T. P. (1997) Nat. Genet. 15, 175–178]. Two of the mutations involve exon 5, and the remaining mutation occurs in exon 7. Known exon 5 mutations include the deletion of the entire exon sequence [HRK(X5 del)] and a missense change leading to a Val380Asp substitution in the encoded product (HRKV380D). The mutation in exon 7 is a 4-bp deletion in codon 536 leading to premature termination of the encoded polypeptide [HRKS536(4-bp del)]. To provide biochemical evidence for pathogenicity of these mutations, wild-type human rhodopsin kinase (HRK) and mutant forms HRKV380D and HRKS536(4-bp del) were expressed in COS7 cells and their activities were compared. Wild-type HRK catalyzed light-dependent phosphorylation of rhodopsin efficiently. In contrast, both mutant proteins were markedly deficient in catalytic activity with HRKV380D showing virtually no detectible activity and HRKS536(4-bp del) only minimal light-dependent activity. These results provide biochemical evidence to support the pathogenicity of the RK mutations in man. PMID:9501174

Efficacy Outcome Measures for Clinical Trials of USH2A caused by the Common c.2299delG Mutation.

PubMed

Calzetti, Giacomo; Levy, Richard A; Cideciyan, Artur V; Garafalo, Alexandra V; Roman, Alejandro J; Sumaroka, Alexander; Charng, Jason; Heon, Elise; Jacobson, Samuel G

2018-06-25

To determine the change in vision and retinal structure in patients with the common c.2299delG mutation in the USH2A gene in anticipation of clinical trials of therapy. Retrospective observational case series. Eighteen patients, homozygotes or compound heterozygotes with the c.2299delG mutation in USH2A, were studied with visual acuity, kinetic perimetry, dark- and light-adapted two-color static perimetry, optical coherence tomography (OCT) and autofluorescence (AF) imaging. Serial data were available for at least half of the patients depending on the parameter analyzed. The kinetics of disease progression in this specific molecular form of USH2A differed between the measured parameters. Visual acuity could remain normal for decades. Kinetic and light-adapted static perimetry across the entire visual field had similar rates of decline that were slower than those of rod-based perimetry. Horizontal OCT scans through the macula showed that IS/OS line width had a similar rate of constriction as co-localized AF imaging and cone-based light-adapted sensitivity extent. The rate of constriction of rod-based sensitivity extent across this same region was twice as rapid as that of cones. In patients with the c.2299delG mutation in USH2A, rod photoreceptors are the cells that express disease early and more aggressively than cones. Rod-based vision measurements in central or extracentral-peripheral retinal regions warrant monitoring in order to complete a clinical trial in a timely manner. Copyright © 2018. Published by Elsevier Inc.

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

PubMed

Swoboda, Kathryn J; Margraf, Rebecca L; Carey, John C; Zhou, Holly; Newcomb, Tara M; Coonrod, Emily; Durtschi, Jacob; Mallempati, Kalyan; Kumanovics, Attila; Katz, Ben E; Voelkerding, Karl V; Opitz, John M

2014-01-01

Three related males presented with a newly recognized x-linked syndrome associated with neurodegeneration, cutaneous abnormalities, and systemic iron overload. Linkage studies demonstrated that they shared a haplotype on Xp21.3-Xp22.2 and exome sequencing was used to identify candidate variants. Of the segregating variants, only a PIGA mutation segregated with disease in the family. The c.328_330delCCT PIGA variant predicts, p.Leu110del (or c.1030_1032delCTT, p.Leu344del depending on the reference sequence). The unaffected great-grandfather shared his X allele with the proband but he did not have the PIGA mutation, indicating that the mutation arose de novo in his daughter. A single family with a germline PIGA mutation has been reported; affected males had a phenotype characterized by multiple congenital anomalies and severe neurologic impairment resulting in infantile lethality. In contrast, affected boys in the family described here were born without anomalies and were neurologically normal prior to onset of seizures after 6 months of age, with two surviving to the second decade. PIGA encodes an enzyme in the GPI anchor biosynthesis pathway. An affected individual in the family studied here was deficient in GPI anchor proteins on granulocytes but not erythrocytes. In conclusion, the PIGA mutation in this family likely causes a reduction in GPI anchor protein cell surface expression in various cell types, resulting in the observed pleiotropic phenotype involving central nervous system, skin, and iron metabolism. © 2013 Wiley Periodicals, Inc.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Svensson, Emelie; Eriksson, Helena; Gekas, Christos

The Wilms tumor gene 1 (WT1) encodes a zinc-finger-containing transcription factor highly expressed in immature hematopoietic progenitor cells. Overexpression and presence of somatic mutations in acute leukemia indicate a role for WT1 in the pathogenesis of leukemia. CD34{sup +} progenitor cells were transduced with one splice variant of human WT1 without the KTS insert in the zinc-finger domain, WT1(+/-), and with a deleted mutant of WT1 lacking the entire zinc-finger region, WT1(delZ), thus incapable of binding DNA. We show that inhibition of erythroid colony formation and differentiation is absolutely dependent on the DNA-binding zinc-finger domain of WT1. Unexpectedly, however, WT1(delZ)more » was equally effective as wild type protein in the reduction of myeloid clonogenic growth as well as in stimulation of myeloid differentiation, as judged by the expression of cell surface CD11b. Expression of neither WT1(+/-) nor WT1(delZ) upregulated mRNA for the cdk inhibitor p21{sup Waf1/Cip1} or p27{sup Kip1}. Our results demonstrate that WT1 affects proliferation and differentiation in erythroid and myeloid cells by different molecular mechanisms, and suggest that mutations affecting the zinc-finger domain of WT1 could interfere with normal differentiation in the pathogenesis of leukemia.« less

Deletion of the late cornified envelope (LCE) 3B and 3C genes as a susceptibility factor for psoriasis

PubMed Central

de Cid, Rafael; Riveira-Munoz, Eva; Zeeuwen, Patrick L.J.M.; Robarge, Jason; Liao, Wilson; Dannhauser, Emma N.; Giardina, Emiliano; Stuart, Philip E.; Nair, Rajan; Helms, Cynthia; Escaramís, Georgia; Ballana, Ester; Martín-Ezquerra, Gemma; den Heijer, Martin; Kamsteeg, Marijke; Joosten, Irma; Eichler, Evan E.; Lázaro, Conxi; Pujol, Ramón M.; Armengol, Lluís; Abecasis, Gonçalo; Elder, James T.; Novelli, Giuseppe; Armour, John A.L.; Kwok, Pui; Bowcock, Anne; Schalkwijk, Joost; Estivill, Xavier

2011-01-01

Psoriasis is a common inflammatory skin disease with a prevalence of 2% to 3% in Caucasians1. In a genome-wide search for copy number variants (CNV) using a sample pooling approach we have identified a deletion comprising LCE3B and LCE3C, members of the late cornified envelope (LCE) gene cluster2. The absence of LCE3B and LCE3C (LCE3C-LCE3B-del) is significantly associated (p=1.38E-08) with risk of psoriasis in 2,831 samples from Spain, The Netherlands, Italy and the USA, and in a family-based study (p=5.4E-04). LCE3C-LCE3B-del is tagged by rs4112788 (r2=0.93), which is also strongly associated with psoriasis (p<6.6E-09). LCE3C-LCE3B-del shows epistatic effects with the HLA-Cw6 allele on the development of psoriasis in Dutch samples, and multiplicative effects in the other samples. LCE expression can be induced in normal epidermis by skin barrier disruption and is strongly expressed in psoriatic lesions, suggesting that compromised skin barrier function plays a role in psoriasis susceptibility. PMID:19169253

Opportunities and challenges in biological lignin valorization

DOE Office of Scientific and Technical Information (OSTI.GOV)

Beckham, Gregg T.; Johnson, Christopher W.; Karp, Eric M.

Lignin is a primary component of lignocellulosic biomass that is an underutilized feedstock in the growing biofuels industry. Despite the fact that lignin depolymerization has long been studied, the intrinsic heterogeneity of lignin typically leads to heterogeneous streams of aromatic compounds, which in turn present significant technical challenges when attempting to produce lignin-derived chemicals where purity is often a concern. In Nature, microorganisms often encounter this same problem during biomass turnover wherein powerful oxidative enzymes produce heterogeneous slates of aromatics compounds. Some microbes have evolved metabolic pathways to convert these aromatic species via ‘upper pathways’ into central intermediates, which canmore » then be funneled through ‘lower pathways’ into central carbon metabolism in a process we dubbed ‘biological funneling’. This funneling approach offers a direct, biological solution to overcome heterogeneity problems in lignin valorization for the modern biorefinery. Coupled to targeted separations and downstream chemical catalysis, this concept offers the ability to produce a wide range of molecules from lignin. This perspective describes research opportunities and challenges ahead for this new field of research, which holds significant promise towards a biorefinery concept wherein polysaccharides and lignin are treated as equally valuable feedstocks. In particular, we discuss tailoring the lignin substrate for microbial utilization, host selection for biological funneling, ligninolytic enzyme–microbe synergy, metabolic engineering, expanding substrate specificity for biological funneling, and process integration, each of which presents key challenges. Ultimately, for biological solutions to lignin valorization to be viable, multiple questions in each of these areas will need to be addressed, making biological lignin valorization a multidisciplinary, co-design problem.« less

Toward engineering E. coli with an autoregulatory system for lignin valorization

PubMed Central

Wu, Weihua; Liu, Fang; Singh, Seema

2018-01-01

Efficient lignin valorization could add more than 10-fold the value gained from burning it for energy and is critical for economic viability of future biorefineries. However, lignin-derived aromatics from biomass pretreatment are known to be potent fermentation inhibitors in microbial production of fuels and other value-added chemicals. In addition, isopropyl-β-d-1-thiogalactopyranoside and other inducers are routinely added into fermentation broth to induce the expression of pathway enzymes, which further adds to the overall process cost. An autoregulatory system that can diminish the aromatics’ toxicity as well as be substrate-inducible can be the key for successful integration of lignin valorization into future lignocellulosic biorefineries. Toward that goal, in this study an autoregulatory system is demonstrated that alleviates the toxicity issue and eliminates the cost of an external inducer. Specifically, this system is composed of a catechol biosynthesis pathway coexpressed with an active aromatic transporter CouP under induction by a vanillin self-inducible promoter, ADH7, to effectively convert the lignin-derived aromatics into value-added chemicals using Escherichia coli as a host. The constructed autoregulatory system can efficiently transport vanillin across the cell membrane and convert it to catechol. Compared with the system without CouP expression, the expression of catechol biosynthesis pathway with transporter CouP significantly improved the catechol yields about 30% and 40% under promoter pTrc and ADH7, respectively. This study demonstrated an aromatic-induced autoregulatory system that enabled conversion of lignin-derived aromatics into catechol without the addition of any costly, external inducers, providing a promising and economically viable route for lignin valorization. PMID:29500185

From gene to biorefinery: microbial β-etherases as promising biocatalysts for lignin valorization.

PubMed

Picart, Pere; de María, Pablo Domínguez; Schallmey, Anett

2015-01-01

The set-up of biorefineries for the valorization of lignocellulosic biomass will be core in the future to reach sustainability targets. In this area, biomass-degrading enzymes are attracting significant research interest for their potential in the production of chemicals and biofuels from renewable feedstock. Glutathione-dependent β-etherases are emerging enzymes for the biocatalytic depolymerization of lignin, a heterogeneous aromatic polymer abundant in nature. They selectively catalyze the reductive cleavage of β-O-4 aryl-ether bonds which account for 45-60% of linkages present in lignin. Hence, application of β-etherases in lignin depolymerization would enable a specific lignin breakdown, selectively yielding (valuable) low-molecular-mass aromatics. Albeit β-etherases have been biochemically known for decades, only very recently novel β-etherases have been identified and thoroughly characterized for lignin valorization, expanding the enzyme toolbox for efficient β-O-4 aryl-ether bond cleavage. Given their emerging importance and potential, this mini-review discusses recent developments in the field of β-etherase biocatalysis covering all aspects from enzyme identification to biocatalytic applications with real lignin samples.

From gene to biorefinery: microbial β-etherases as promising biocatalysts for lignin valorization

PubMed Central

Picart, Pere; de María, Pablo Domínguez; Schallmey, Anett

2015-01-01

The set-up of biorefineries for the valorization of lignocellulosic biomass will be core in the future to reach sustainability targets. In this area, biomass-degrading enzymes are attracting significant research interest for their potential in the production of chemicals and biofuels from renewable feedstock. Glutathione-dependent β-etherases are emerging enzymes for the biocatalytic depolymerization of lignin, a heterogeneous aromatic polymer abundant in nature. They selectively catalyze the reductive cleavage of β-O-4 aryl-ether bonds which account for 45–60% of linkages present in lignin. Hence, application of β-etherases in lignin depolymerization would enable a specific lignin breakdown, selectively yielding (valuable) low-molecular-mass aromatics. Albeit β-etherases have been biochemically known for decades, only very recently novel β-etherases have been identified and thoroughly characterized for lignin valorization, expanding the enzyme toolbox for efficient β-O-4 aryl-ether bond cleavage. Given their emerging importance and potential, this mini-review discusses recent developments in the field of β-etherase biocatalysis covering all aspects from enzyme identification to biocatalytic applications with real lignin samples. PMID:26388858

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.

Pressure ulcer dressings in critical patients: a cost analysis.

PubMed

Silva, Dinara Raquel Araújo; Bezerra, Sandra Marina Gonçalves; Costa, Jéssica Pereira; Luz, Maria Helena Barros Araújo; Lopes, Vanessa Caminha Aguiar; Nogueira, Lidya Tolstenko

2017-06-12

To assess the direct cost of dressings in pressure ulcer treatment. This was a descriptive observational study conducted at an intensive care unit in the Northeast region of Brazil, between November and December 2015. Data were gathered using the Pressure Ulcer Scale for Healing and a form to characterize and assess costs. Values in Brazilian reais (BRL) were converted into U.S. dollars at the exchange rate of USD 0.26/BRL. Univariate and bivariate analyses were conducted. The sample consisted of 15 patients with at least stage 2 ulcers. There was a significant reduction in costs with dressing materials between the initial and final assessments (p=0.002), with a mean of USD 11.9 (±7.4). The most common topical treatments used were essential fatty acids and papain. Cost reduction was proportional to the stage of pressure ulcer. The role of nurses in creating evidence-based care plans is crucial to improve care management. Avaliar o custo direto com curativos no tratamento de lesões por pressão. Estudo observacional descritivo, realizado em Unidade de Terapia Intensiva do nordeste do Brasil, de novembro a dezembro de 2015. Foi aplicada a Pressure Ulcer Scale for Healing e formulário para caracterização e avaliação de custos. Os valores da moeda brasileira (R$) foram convertidos para a moeda norte-americana (US$) à taxa de US$0,26/R$. Foram realizadas análises univariadas e bivariadas. Compuseram a amostra 15 pacientes com lesões, no mínimo, estágio 2. Houve redução significativa dos custos com materiais de curativos entre as avaliações inicial e final (p=0,002), com média de US$11,9 (±7,4). As terapias tópicas mais frequentes foram ácidos graxos essenciais e papaína. Verificou-se redução de custos proporcional aos estágios das lesões. Enfatiza-se o papel do enfermeiro na elaboração de planos de cuidados baseados em evidências para melhor gerenciamento do cuidado. Evaluar el costo directo de curativos para el tratamiento de lesiones por presión. Estudio observacional descriptivo en la Unidad de Cuidados Intensivos del noreste de Brasil, de noviembre a diciembre del año 2015. Se aplicó la Pressure Ulcer Scale for Healing y formulario para la caracterización y evaluación de los costos. Los valores de la moneda brasileña (Reales- R$) se convirtieron al dólar estadounidense (US$) a razón de $0.26/R$. Se realizaron análisis univariados y bivariados. La muestra consistió en 15 pacientes con lesiones al menos en Etapa 2. Hubo una reducción significativa en el costo de los materiales de curación entre las evaluaciones inicial y final (p=0,002), con un promedio de US$11.9 (±7.4). Los tratamientos tópicos más comunes son los ácidos grasos esenciales y papaína. Se verificó una reducción de los costos proporcional a las etapas de las lesiones. Se hace hincapié en el papel de los enfermeros en el desarrollo de planes de cuidados basados en la evidencia, para una mejor gestión de la atención.

M-Estimation for Discrete Data. Asymptotic Distribution Theory and Implications.

DTIC Science & Technology

1985-10-01

outlying data points, can be specified in a direct way since the influence function of an IM-estimator is proportional to its score function; see HamDel...consistently estimates - when the model is correct. Suppose now that ac RI. The influence function at F of an M-estimator for 3 has the form 2(x,S) = d/ P ("e... influence function at F . This is assuming, of course, that the estimator is asymototically normal at Fe. The truncation point c(f) determines the bounds

Isolation of Breast Tumor Suppressor Genes from Chromosome 11p.

DTIC Science & Technology

1998-09-01

tumors . Figure 7b shows the SSCA pattern of exon 2 amplified from paired normal/ tumor samples from four different Wilms tumor patients. Sample 1 is...G., Chaussain, J.L., Junien, C. Tumor specific loss of IIp 15.5 alleles in del 1 lp 13 Wilms tumor and in familial adrenocortical carcinoma. Proc...Chilton-MacNeill,S., Campbell, C.E., Weksberg, R., Yeger, H., Reeve, A.E. and Williams, B.R.G. Loss of heterozygosity mapping in Wilms tumor

Usher syndrome type III can mimic other types of Usher syndrome.

PubMed

Pennings, Ronald J E; Fields, Randall R; Huygen, Patrick L M; Deutman, August F; Kimberling, William J; Cremers, Cor W R J

2003-06-01

Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV:1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.

[Not Available].

PubMed

MIján de la Torre, Alberto

2016-06-03

El síndrome de caquexia cancerosa es responsable de la muerte de un número significativo de pacientes con cáncer. Se caracteriza por la presencia de una ingesta reducida, con inflamación sistémica y un metabolismo alterado. Los enfermos presentan característicamente una progresiva pérdida de peso y de masa muscular, junto a deterioro funcional. La pérdida muscular se debe a la combinación de reducción de la síntesis proteica con aumento de su degradación. Ello conduce tanto a un acortamiento como a una reducción en el área de la fibra muscular. Asimismo, existen datos que apoyan que selectivamente algunos de los tipos de fibra muscular se ven más afectados. Es necesario definir bien los valores de corte de sarcopenia para diagnosticar la pérdida muscular y existen diferentes métodos. El sistema de la ubiquitina-proteasoma parece desempeñar un papel predominante en la degradación de la proteína miofibrilar. La tendencia a perder masa muscular en los pacientes con caquexia cancerosa parece estar asociada a la activación de señales catabólicas por citoquinas proinflamatorias, así como por productos tumorales del tipo factor inductor de proteólisis. En referencia a los factores pronósticos, el riesgo de muerte está bien documentado en pacientes con sarcopenia y, especialmente, en aquellos con obesidad asociada a la sarcopenia. Asimismo, se ha establecido una relación directa entre la pérdida intensa de masa muscular y la supervivencia en pacientes con diferentes tipos de tumores del tipo de cáncer de páncreas, pulmón, tracto biliar o cáncer colorrectal. Respecto de la terapia en el síndrome de caquexia cancerosa, es factible que requiera tratamiento con varios grupos combinados que incluyan, junto al soporte nutricional, fármacos orexígenos, con efecto anabólico y antinflamatorio, asociados a intervenciones que estimulen el ejercicio físico.

La masa de los grandes impactores

NASA Astrophysics Data System (ADS)

Parisi, M. G.; Brunini, A.

Los planetas han sido formados fundamentalmente acretando masa a través de colisiones con planetesimales sólidos. La masa más grande de la distribución de planetesimales y las masas máxima y mínima de los impactores, han sido calculadas usando los valores actuales del período y de la inclinación de los planetas (Lissauer & Safronov 1991; Parisi & Brunini 1996). Recientes investigaciones han mostrado, que las órbitas de los planetas gigantes no han sufrido variaciones con el tiempo, siendo su movimiento regular durante su evolución a partir de la finalización de la etapa de acreción (Laskar 1990, 1994). Por lo tanto, la eccentricidad actual de los planetas gigantes se puede utilizar para imponer una cota máxima a las masas y velocidades orbitales de los grandes impactores. Mediante un simple modelo dinámico, y considerando lo arriba mencionado, obtenemos la cota superior para la masa del planetesimal más grande que impactó a cada planeta gigante al final de su etapa de acreción. El resultado más importante de este trabajo es la estimación de la masa máxima permitida para impactar a Júpiter, la cúal es ~ 1.136 × 10 -1, siendo en el caso de Neptuno ~ 3.99 × 10 -2 (expresada en unidades de la masa final de cada planeta). Además, fue posible obtener la velocidad orbital máxima permitida para los impactores como una función de su masa, para cada planeta. Las cotas obtenidas para la masa y velocidad de los impactores de Saturno y Urano (en unidades de la masa y velocidad final de cada planeta respectivamente) son casi las mismas que las obtenidas para Júpiter debido a que estos tres planetas poseen similar eccentricidad actual. Nuestros resultados están en buen acuerdo con los obtenidos por Lissauer & Safronov (1991). Estas cotas podrían ser utilizadas para obtener la distribución de planetesimales en el Sistema Solar primitivo.

Life cycle costing of food waste: A review of methodological approaches.

PubMed

De Menna, Fabio; Dietershagen, Jana; Loubiere, Marion; Vittuari, Matteo

2018-03-01

Food waste (FW) is a global problem that is receiving increasing attention due to its environmental and economic impacts. Appropriate FW prevention, valorization, and management routes could mitigate or avoid these effects. Life cycle thinking and approaches, such as life cycle costing (LCC), may represent suitable tools to assess the sustainability of these routes. This study analyzes different LCC methodological aspects and approaches to evaluate FW management and valorization routes. A systematic literature review was carried out with a focus on different LCC approaches, their application to food, FW, and waste systems, as well as on specific methodological aspects. The review consisted of three phases: a collection phase, an iterative phase with experts' consultation, and a final literature classification. Journal papers and reports were retrieved from selected databases and search engines. The standardization of LCC methodologies is still in its infancy due to a lack of consensus over definitions and approaches. Research on the life cycle cost of FW is limited and generally focused on FW management, rather than prevention or valorization of specific flows. FW prevention, valorization, and management require a consistent integration of LCC and Life Cycle Assessment (LCA) to avoid tradeoffs between environmental and economic impacts. This entails a proper investigation of methodological differences between attributional and consequential modelling in LCC, especially with regard to functional unit, system boundaries, multi-functionality, included cost, and assessed impacts. Further efforts could also aim at finding the most effective and transparent categorization of costs, in particular when dealing with multiple stakeholders sustaining costs of FW. Interpretation of results from LCC of FW should take into account the effect on larger economic systems. Additional key performance indicators and analytical tools could be included in consequential approaches. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

Toward engineering E. coli with an autoregulatory system for lignin valorization.

PubMed

Wu, Weihua; Liu, Fang; Singh, Seema

2018-03-20

Efficient lignin valorization could add more than 10-fold the value gained from burning it for energy and is critical for economic viability of future biorefineries. However, lignin-derived aromatics from biomass pretreatment are known to be potent fermentation inhibitors in microbial production of fuels and other value-added chemicals. In addition, isopropyl-β-d-1-thiogalactopyranoside and other inducers are routinely added into fermentation broth to induce the expression of pathway enzymes, which further adds to the overall process cost. An autoregulatory system that can diminish the aromatics' toxicity as well as be substrate-inducible can be the key for successful integration of lignin valorization into future lignocellulosic biorefineries. Toward that goal, in this study an autoregulatory system is demonstrated that alleviates the toxicity issue and eliminates the cost of an external inducer. Specifically, this system is composed of a catechol biosynthesis pathway coexpressed with an active aromatic transporter CouP under induction by a vanillin self-inducible promoter, ADH7, to effectively convert the lignin-derived aromatics into value-added chemicals using Escherichia coli as a host. The constructed autoregulatory system can efficiently transport vanillin across the cell membrane and convert it to catechol. Compared with the system without CouP expression, the expression of catechol biosynthesis pathway with transporter CouP significantly improved the catechol yields about 30% and 40% under promoter pTrc and ADH7, respectively. This study demonstrated an aromatic-induced autoregulatory system that enabled conversion of lignin-derived aromatics into catechol without the addition of any costly, external inducers, providing a promising and economically viable route for lignin valorization. Copyright © 2018 the Author(s). Published by PNAS.

Is phytoremediation without biomass valorization sustainable? - comparative LCA of landfilling vs. anaerobic co-digestion.

PubMed

Vigil, Miguel; Marey-Pérez, Manuel F; Martinez Huerta, Gemma; Álvarez Cabal, Valeriano

2015-02-01

This study examines the sustainability of phytoremediation for soils contaminated with heavy metals, especially the influence of management of the produced metal-enriched biomass on the environmental performance of the complete system. We examine a case study in Asturias (north of Spain), where the land was polluted with Pb by diffuse emissions from an adjacent steelmaking factory. A Phytoremediation scenario based on this case was assessed by performing a comparative life cycle assessment and by applying the multi-impact assessment method ReCiPe. Our Baseline scenario used the produced biomass as feedstock for an anaerobic digester that produces biogas, which is later upgraded cryogenically. The Baseline scenario was compared with two alternative scenarios: one considers depositing the produced biomass into landfill, and the other considers excavating the contaminated soil, disposing it in a landfill, and refilling the site with pristine soil. A sensitivity analysis was performed using different yields of biomass and biogas, and using different distances between site and biomass valorization/disposal center. Our results show that the impacts caused during agricultural activities and biomass valorization were compensated by the production of synthetic natural gas and the avoided impact of natural gas production. In addition, it was found that if the produced biomass was not valorized, the sustainability of phytoremediation is questionable. The distance between the site and the biomass processing center is not a major factor for determining the technology's sustainability, providing distances are less than 200-300 km. However, distance to landfill or to the source of pristine soil is a key factor when deciding to use phytoremediation or other ex-situ conventional remediation techniques. Copyright © 2014 Elsevier B.V. All rights reserved.

Adsorptive removal of organics from aqueous phase by acid-activated coal fly ash: preparation, adsorption, and Fenton regenerative valorization of "spent" adsorbent.

PubMed

Wang, Nannan; Hao, Linlin; Chen, Jiaqing; Zhao, Qiang; Xu, Han

2018-05-01

Raw coal fly ash was activated to an adsorbent by sulfuric acid impregnation. The activation condition, the adsorption capacity, and the regenerative valorization of the adsorbent were studied. The results show that the optimal preparation conditions of the adsorbent are [H 2 SO 4 ] = 1 mol L -1 , activation time = 30 min, the ratio of coal fly ash to acid = 1:20 (g:mL), calcination temperature = 100 °C. The adsorption of p-nitrophenol on the adsorbent accords with the pseudo-second-order kinetic equation and the adsorption rate constant is 0.089 g mg -1  min -1 . The adsorption on this adsorbent can be considered enough after 35 min, when the corresponding adsorption capacity is 1.07 mg g -1 (85.6% of p-nitrophenol removal). Compared with raw coal fly ash, the adsorbent has a stable adsorption performance at low pH range (pH = 1-6) and the adsorption of p-nitrophenol is an exothermic process. Ninety minutes is required for the regenerative valorization of saturated adsorbent by Fenton process. The regenerative valorization for this saturated adsorbent can reach 89% under the optimal proposed conditions (30 °C, pH = 3, [H 2 O 2 ] = 5.0 mmol L -1 , [Fe 2+ ] = 5.5 mmol L -1 ). Within 15 experimental runs, the adsorbent has a better and better stability with the increase of experimental runs. Finally, the mechanism of activating coal fly ash is proposed, being verified by the results of the SEM and BET test.

Niveles de referencia de osteocalcina en población sana de México.

PubMed

Nieto-Flores, Jesús; Villafán-Bernal, José Rafael; Rivera-León, Edgar Alfonso; Llamas-Covarrubias, Iris Monserrat; González-Hita, Mercedes Elvira; Alcalá-Zermeno, Juan Luis; Sánchez-Enríquez, Sergio

2018-01-01

Se ha demostrado que la osteocalcina tiene una relación inversa con la glucemia, resistencia a la insulina y adiposidad. Determinar la concentración sérica normal de osteocalcina en adultos sanos mexicanos y compararlos con los reportados en otras poblaciones. Se determinó la concentración sérica de osteocalcina carboxilada y pobremente carboxilada en 100 adultos sanos mediante inmunoensayo enzimático; se calculó la concentración de osteocalcina total. Se hizo una comparación descriptiva con valores de otras poblaciones reportadas en la literatura. Las medianas de las concentraciones de osteocalcina carboxilada y pobremente carboxilada fueron 3.22 ng/mL y 1.61 ng/mL, respectivamente; la media de osteocalcina total fue 7.40 ± 5.11 ng/mL. No hubo diferencia significativa entre los valores de osteocalcina total en nuestra población y los de poblaciones en las que se utilizaron métodos de cuantificación similares al nuestro. La concentración sérica promedio de osteocalcina total en la población analizada fue de 7.40 ng/mL. Las variaciones sutiles entre poblaciones son atribuibles a factores genéticos y poblacionales, sin embargo, el método de cuantificación fue el único que se comprobó influye significativamente en los niveles de osteocalcina en poblaciones sanas. Osteocalcin has been shown to have an inverse relationship with blood glucose, insulin resistance and adiposity. To determine osteocalcin normal serum concentration in Mexican healthy adults and compare it with values reported in other populations. Carboxylated and undercarboxylated osteocalcin serum concentrations were determined in 100 healthy adults by means of enzyme immunoassay; osteocalcin total concentration was calculated. A descriptive comparison was made with other populations' values reported in the literature. Carboxylated and undercarboxylated osteocalcin median concentrations were 3.22 ng/mL and 1.61 ng/mL, respectively. Mean total osteocalcin was 7.40 ± 5.11 ng/mL. There was no significant difference between the osteocalcin values in our population and those of populations where similar quantification methods to ours were used. Osteocalcin total serum concentration mean in the analyzed population was 7.40 ng/mL. There are subtle variations between populations that are attributable to genetic and population factors; however, the quantification method was the only variable that was shown to significantly influence on osteocalcin levels in healthy populations. Copyright: © 2018 SecretarÍa de Salud.

Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis.

PubMed

Hou, Qiaofang; Chu, Yan; Guo, Qiannan; Wu, Dong; Liao, Shixiu

2012-02-01

The purpose of our study was to identify the mutations in the retinoschisis 1 (RS1) gene, which was associated with X-linked retinoschisis (XLRS) in a four-generation Chinese family, and to provide the theoretical basis for gene diagnosis and gene therapy. Genomic DNA was extracted from peripheral leukocytes. All six exons and flanking intronic regions were amplified by polymerase chain reaction (PCR), followed by direct sequencing. Through our genetic analysis, one frameshift 573delG mutation was identified in the patients of this four-generation pedigree; however, this mutation was absent in normal or non-carrier subjects. In conclusion, this 573delG mutation is reported in the Chinese population for the first time. This mutation widens the mutational spectrum of RS1 in Asians. 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.

TGF{beta}1 polymorphisms and late clinical radiosensitivity in patients treated for gynecologic tumors

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ruyck, Kim de; Van Eijkeren, Marc; Claes, Kathleen

2006-07-15

Purpose: To investigate the association between six transforming growth factor {beta}1 gene (TGF{beta}1) polymorphisms (-1.552delAGG, -800G>A, -509C>T, Leu10Pro, Arg25Pro, Thr263Ile) and the occurrence of late normal tissue reactions after gynecologic radiotherapy (RT). Methods and Materials: Seventy-eight women with cervical or endometrial cancer and 140 control individuals were included in the study. According to the Common Terminology Criteria for Adverse Events version 3.0 (CTCAEv3.0) scale, 25 patients showed late adverse RT reactions (CTC2+), of whom 11 had severe complications (CTC3+). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), single base extension and genotyping assays were performed to examine the polymorphic sites inmore » TGF{beta}1. Results: Homozygous variant -1.552delAGG, -509TT, and 10Pro genotypes were associated with the risk of developing late severe RT reactions. Triple (variant) homozygous patients had a 3.6 times increased risk to develop severe RT reactions (p = 0.26). Neither the -800A allele, nor the 25Pro allele or the 263Ile allele were associated with clinical radiosensitivity. There was perfect linkage disequilibrium (LD) between the -1.552delAGG and the -509C>T polymorphisms, and tight LD between the -1.552/-509 and the Leu10Pro polymorphisms. Haplotype analysis revealed two major haplotypes but could not distinguish radiosensitive from nonradiosensitive patients. Conclusions: The present study shows that homozygous variant TGF{beta}1 -1.552delAGG, -509TT, and 10Pro genotypes may be associated with severe clinical radiosensitivity after gynecologic RT.« less

Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements.

PubMed

Chen, Chih-Ping; Chern, Schu-Rern; Lee, Chen-Chi; Lin, Chyi-Chyang; Li, Yueh-Chun; Hsieh, Lie-Jiau; Chen, Wen-Lin; Wang, Wayseen

2006-02-01

To present the prenatal diagnosis of a de novo complex chromosomal rearrangement (CCR) associated with de novo interstitial deletions and duplication and to review the literature. Amniocentesis was performed at 18 weeks' gestation because of an increased risk for Down syndrome based on maternal serum alpha-fetoprotein and human chorionic gonadotrophin screening. Amniocentesis revealed a karyotype of 46,XY,t(2;18;14)(q33.1;q12.2;q31.2),dup(5)(q34q34),del(7)(p21.1p21.1), del(10)(q25.3q25.3). The parental karyotypes were normal. The pregnancy was terminated. The fetus manifested facial dysmorphism, clinodactyly of both hands, and hypoplasia of the left great toe. Spectral karyotyping (SKY), cytogenetic polymorphism, and polymorphic DNA markers were used to investigate the imbalances and the origin of the de novo aberrant chromosomes. SKY showed a three-way CCR. Cytogenetic polymorphism investigation of the derivative chromosome 14 of the fetus and the parental chromosomes 14 determined the maternal origin of the translocation. Polymorphic DNA marker analysis confirmed the maternal origin of the de novo interstitial deletions and duplication. No cryptic imbalance at or near the breakpoints of the CCR was detected by the molecular analysis. De novo apparently balanced CCRs may be associated with imbalances in other chromosomes. We suggest further investigation and re-evaluation of cryptic or subtle imbalances in all cases classified as de novo apparently balanced CCRs. Copyright 2006 John Wiley & Sons, Ltd.

E-cadherin expression in sporadic gastric cancer from Mexico: exon 8 and 9 deletions are infrequent events associated with poor survival.

PubMed

Gamboa-Dominguez, Armando; Dominguez-Fonseca, Claudia; Chavarri-Guerra, Yanin; Vargas, Roberto; Reyes-Gutierrez, Edgardo; Green, Dan; Quintanilla-Martinez, Leticia; Luber, Birgit; Busch, Raymonde; Becker, Karl-Friedrich; Becker, Ingrid; Höfler, Heinz; Fend, Falko

2005-01-01

Aberrant expression and mutation of E-cadherin is frequent in gastric carcinoma (GC) especially of the diffuse type. The frequency of CDH1 (gene encoding E-cadherin) mutation in populations with high incidence of diffuse GC and its prognostic significance is unknown. One hundred seventy-seven gastrectomies from Mexican mestizo patients with intestinal (53), mixed (55), or diffuse (69) GC were included. In addition, 101 endoscopic biopsies from patients with GC not subjected to surgery were analyzed. Immunohistochemistry against wild-type E-cadherin (clone 36) and against 2 mutation-specific antibodies (MSA) recognizing mutant CDH1 lacking exon-8 (del 8) or exon-9 (del 9) were performed. Staining was correlated with histotype, tumor node metastasis stage, and follow-up. Abnormal or absent E-cadherin expression (clone 36) was identified in 84% GC, predominantly in diffuse or mixed tumors (P = 0.004) in advanced stages (P = 0.003). No survival differences at 1 and 2 years were observed among patients showing normal, abnormal, or absent wild type E-cadherin expression. Overall reactivity with the MSA was observed in 10 (5.6%) patients who were treated with surgery. In 140 patients, dead from the disease or alive with the disease, the survival at 1 and 2 years was 37% versus 17% and 14% versus 0 for patients without and with del 8/9 positivity, respectively (log rank P = 0.01). Biopsies from patients with inoperable-GC (101) rendered 5 (4.95%) with del 8 or 9 immunoreactivity. Abnormal E-cadherin expression is frequent in GC. However, exon 8 or 9 deletions were observed in only 5.3% tumors in this series from Mexico, at a lower rate than previously published, but associated with a worse prognosis.

Unique double de novo structural rearrangements for chromosome 11 with 46,XX,del(11)(q13q23)/46,XX,inv dup(11)(q13q23) in an infant with minor congenital abnormalities and delayed development

DOE Office of Scientific and Technical Information (OSTI.GOV)

Tharapel, A.T.; Zhao, J.; Smith, M.E.

1994-09-01

Reported here is a patient with two most unusual structural rearrangements, both involving chromosome 11. The first cell line showed an interstitial deletion of a chromosome 11 with a 46,XX,del(11)(q13q23) chromosome complement. In the second cell line, one of the chromosome 11s had a duplication for the exact region, (11)(q13q23), that was deleted in the first cell line. This duplication also appeared to be inverted with karyotype 46,XX,inv dup(11)(q13q23). Interestingly, chromosome analysis did not reveal a normal cell line and the two abnormal cell lines were present in a 1:1 ratio. Parental chromosome analyses showed normal karyotypes. The patient wasmore » referred for genetic evaluation because of developmental delay. Minor congenital anomalies presented on physical examination included: weight and height at or below the 5th percentile, microcephaly, downward slanting palpebral fissures, severe clinodactyly of one toe, bilateral short fifth fingers and a broad based gait. Results of the MRI and urine metabolic screen were normal. Two hypotheses are advanced to explain the origin of the abnormality. It is most likely that the abnormality arose as a postzygotic event at the very early zygotic division. During the first DNA synthesis after fertilization and before the zygotic division, DNA synthesis errors could result in two chromatids, one with a deletion and the other with a duplication. It is also possible that after the DNA synthesis prior to the first cell division, the chromatids of the same chromosome 11 for unknown reasons were involved in uneven double somatic crossing over events resulting in deleted and duplicated chromatids, respectively. The 1:1 cell ratio found in the patient and the apparent non-existence of a normal cell line further suggest that the origin of the abnormality was post-zygotic.« less

[Rapid prenatal genetic diagnosis of a fetus with a high risk for Morquio A syndrome].

PubMed

Guo, Yi-bin; Ai, Yang; Zhao, Yan; Tang, Jia; Jiang, Wei-ying; Du, Min-lian; Ma, Hua-mei; Zhong, Yan-fang

2012-04-01

To provide rapid and accurate prenatal genetic diagnosis for a fetus with high risk of Morquio A syndrome. Based on ascertained etiology of the proband and genotypes of the parents, particular mutations of the GALNS gene were screened at 10th gestational week with amplification refractory mutation system (ARMS), denaturing high performance liquid chromatography (DHPLC), and direct DNA sequencing. DHPLC screening has identified abnormal double peaks in the PCR products of exons 1 and 10, whilst only a single peak was detected in normal controls. Amplification of ARMS specific primers derived a specific product for the fetus's gene, whilst no similar product was detected in normal controls. Sequencing of PCR products confirmed that exons 1 and 10 of the GALNS gene from the fetus contained a heterozygous paternal c.106-111 del (p.L36-L37 del) deletion and a heterozygous maternal c.1097 T>C (p.L366P) missense mutation, which resulted in a compound heterozygote status. The fetus was diagnosed with Morquio A syndrome and a genotype similar to the proband. Termination of the pregnancy was recommended. Combined ARMS, DHPLC and DNA sequencing are effective for rapid and accurate prenatal diagnosis for fetus with a high risk for Morquio A syndrome. Such methods are particularly suitable for early diagnosis when pathogenesis is clear. Furthermore, combined ARMS and DHPLC are suitable for rapid processing of large numbers of samples for the identification of new mutations.

A boy with 46,X,+mar presenting gynecomastia and short stature.

PubMed

Kim, Ki Eun; Kim, Ye Jin; Jung, Mo Kyoung; Chae, Hyun-Wook; Kwon, Ah Reum; Lee, Woo Jung; Kim, Duk-Hee; Kim, Ho-Seong

2017-12-01

A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range. Radiographs showed short fourth and fifth metacarpals and fourth metatarsal bones. The karyotype was reported as 46,X,+mar, and the marker chromosome was shown to originate from the Y chromosome, which was identified by fluorescence in situ hybridization. Polymerase chain reaction and direct sequencing were used to clarify the deleted loci of the Y chromosome by making use of Y-specific sequence-tagged sites (STSs). The sex-determining region Y and centromere were verified, and there were microdeletions on the long arm of the Y chromosome. The azoospermia factor (AZF) b region was partially deleted, and AZFa and AZFc were completely deleted. Two STS probes of sY143 and the Y chromosome RNA recognition motif in AZFb showed positive signals corresponding to Yq11.223. The karyotype of the patient was interpreted as 46,X,der(Y)del(Y)(q11.21q11.222)del(Y)(q11.23qter). Herein, we report a rare case of a boy presenting with gynecomastia and short stature with 46, X, +mar, which originated from the Y chromosome, which was identified to have Yq microdeletions.

LCA applied to elucidate opportunities for biogas from wastewaters in Colombia.

PubMed

Meneses-Jácome, A; Osorio-Molina, A; Parra-Saldívar, R; Gallego-Suárez, D; Velásquez-Arredondo, H I; Ruiz-Colorado, A A

2015-01-01

Biogas produced in municipal and industrial wastewater treatment facilities (BWWF) is a resource wasted in several socio-economic contexts. BWWF-based projects are compared against energy projects using conventional electricity or natural gas (NG), following strict economic considerations that usually tip the balance in favour of conventional energy supply. This is because the economic gain associated with the environmental benefits of using small biogas sources like BWWF does not overcome the technical and financial effort required in these types of project. This paper shows a broader application of life cycle assessment (LCA) methodology to explore opportunities for positive (or effective) utilization of BWWF in the Colombian context. LCA has been used to evaluate the supply-chain of NG which is the direct competitor of BWWF, in three different Colombian regions, in order to identify those where higher NG environmental impacts offer increased environmental added-value to BWWF use. LCA was also applied to study two BWWF valorization scenarios in the poultry processing industry. It shows how valorization options for BWWF are more realistic and effective when specific-regional loads are applied to the environmental assessment of NG supply-chain and BWWF valorization.

Cheese whey management: a review.

PubMed

Prazeres, Ana R; Carvalho, Fátima; Rivas, Javier

2012-11-15

Cheese whey is simultaneously an effluent with nutritional value and a strong organic and saline content. Cheese whey management has been focused in the development of biological treatments without valorization; biological treatments with valorization; physicochemical treatments and direct land application. In the first case, aerobic digestion is reported. In the second case, six main processes are described in the literature: anaerobic digestion, lactose hydrolysis, fermentation to ethanol, hydrogen or lactic acid and direct production of electricity through microbial fuel cells. Thermal and isoelectric precipitation, thermocalcic precipitation, coagulation/flocculation, acid precipitation, electrochemical and membrane technologies have been considered as possible and attractive physicochemical processes to valorize or treat cheese whey. The direct land application is a common and longstanding practice, although some precautions are required. In this review, these different solutions are analyzed. The paper describes the main reactors used, the influence of the main operating variables, the microorganisms or reagents employed and the characterizations of the final effluent principally in terms of chemical oxygen demand. In addition, the experimental conditions and the main results reported in the literature are compiled. Finally, the comparison between the different treatment alternatives and the presentation of potential treatment lines are postulated. Copyright © 2012 Elsevier Ltd. All rights reserved.

Selective recovery of silver from waste low-temperature co-fired ceramic and valorization through silver nanoparticle synthesis.

PubMed

Swain, Basudev; Shin, Dongyoon; Joo, So Yeong; Ahn, Nak Kyoon; Lee, Chan Gi; Yoon, Jin-Ho

2017-11-01

Considering the value of silver metal and silver nanoparticles, the waste generated during manufacturing of low temperature co-fired ceramic (LTCC) were recycled through the simple yet cost effective process by chemical-metallurgy. Followed by leaching optimization, silver was selectively recovered through precipitation. The precipitated silver chloride was valorized though silver nanoparticle synthesis by a simple one-pot greener synthesis route. Through leaching-precipitation optimization, quantitative selective recovery of silver chloride was achieved, followed by homogeneous pure silver nanoparticle about 100nm size were synthesized. The reported recycling process is a simple process, versatile, easy to implement, requires minimum facilities and no specialty chemicals, through which semiconductor manufacturing industry can treat the waste generated during manufacturing of LTCC and reutilize the valorized silver nanoparticles in manufacturing in a close loop process. Our reported process can address issues like; (i) waste disposal, as well as value-added silver recovery, (ii) brings back the material to production stream and address the circular economy, and (iii) can be part of lower the futuristic carbon economy and cradle-to-cradle technology management, simultaneously. Copyright © 2017 Elsevier Ltd. All rights reserved.

Characterization of Clostridium perfringens Strains Isolated from Healthy and Necrotic Enteritis-Afflicted Broiler Chickens.

PubMed

Li, Charles; Lillehoj, Hyun S; Gadde, Ujvala Deepthi; Ritter, Don; Oh, SungTaek

2017-06-01

Necrotic enteritis (NE) is an important enteric disease in poultry, and Clostridium perfringens (CP) type A strains are the primary etiology. NE is responsible for annual losses of US $6 billion to the poultry industry in the United States. An increase in the incidence of NE has been also associated with withdrawal of antibiotic growth promoters from poultry feed. In this study, CP strains isolated from healthy and NE-afflicted birds were characterized microbiologically and molecularly, and their virulence was experimentally tested in chickens. All strains were hemolytic, lecithinase positive, and identified as CP by biochemical tests. Three distinct colony morphologies were seen in brain-heart infusion media with 0.3% agarose, FeSO 4 , and ZnCl 2 . The CP strains responded differently to iron chelation with 2,2'-bidypinol. PCR toxinotyping showed that all tested strains were alpha toxin-positive, seven (N11, N10, CP1, CP5, CP13, JGS, and Del1) were beta2-toxin-positive, and only one (Del1) was necrotic enteritis toxin B-like-positive. In vivo studies indicated that most isolates, including strain N11 isolated from the normal chicken gut, were sufficiently virulent to produce NE disease in the Eimeria/CP dual infection model. The Del1 and N11 strains merit further investigation to identify their virulence factors and immune-protective antigens.

Evolution of the east-central San Jose del Cabo basin, Baja California Sur, Mexico

NASA Astrophysics Data System (ADS)

McTeague, M. S.; Umhoefer, P. J.; Schwennicke, T.; Ingle, J. C.; Cortes Martinez, M.

2006-12-01

The San Jose del Cabo basin at the southern tip of the Baja California peninsula records the early tectonic evolution of the west side of the Gulf of California. This study focused on the east central margin of the basin. The basal La Calera Formation unconformably overlies Cretaceous granite and consists of conglomerate, pebbly sandstone and conglomerate, and sandstone deposited in alluvial fans and fan-deltas. Deposition of the La Calera Formation was from ca. 9-14 Ma. The lower member of the Trinidad Formation was deposited beginning ca. 9-13 Ma and consists of sandstone, mudstone, and shelly mudstone deposited in nearshore and estuarine environments. These age estimates are based on sedimentation rates and foraminifera and coccoliths from the NN 11A nannozone (7.4 8.6 Ma, GTS 2004). The middle member of the Trinidad Formation consists of deeper water mudstones deposited by turbidity currents and suspension settling in a shelf to slope and conglomerates deposited by submarine debris flows on the shelf. The basin began earlier than previously thought. The oldest marine rocks are ca.9-13 Ma, while sedimentation on the east side began at ca. 9-14 Ma, synchronous with estimates of initiation of offset on the San Jose del Cabo fault. The Zapote fault is a down-to-the-east normal and sinistral-oblique fault that exposes a wedge of granite and older strata in the footwall to the west. The fault was active during sedimentation in the late Miocene and possibly later. The fault divides the study area into an eastern hanging wall subbasin and western footwall subbasin. The eastern subbasin formed an embayment in the eastern margin of the Cabo basin. A regional flooding surface (ca. 8 Ma) can be correlated across the fault that marks a major marine incursion. Depositional systems evolved rapidly from coarse-grained terrestrial systems to fine-grained marine and estuarine systems. The Cabo basin provides an excellent analogue for comparison with offshore basins, which are broadly similar with more faulting in lower strata and fewer or no faulting in upper strata. Offshore seismic data show older, deformed syn-rift strata in half graben overlain by younger, undeformed post-rift strata. The normal faults with 1-5 km spacing cut the basement rock and oldest sedimentary units. The eastern margin of the Cabo basin has older, growth strata cut by the Zapote fault that are overlain by simpler strata. Smaller scale normal faults in the Cabo basin are no longer active while the Cabo fault remains active.

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.

Myelodysplastic Syndrome with concomitant t(5;21)(q15;q22) and del(5)(q13q33): case report and review of literature

PubMed Central

Weckbaugh, Brandon; Sirridge, Christopher; Woodroof, Janet; Persons, Diane

2016-01-01

Chromosomal abnormalities lead to the development of hematologic malignancies such as Myelodysplastic Syndrome (MDS). Known chromosomal changes causing MDS include deletion of the long arm of chromosome 5, runt-related transcription factor 1 (RUNX1) also known as acute myeloid leukemia 1 protein (AML1), and very rarely fusion genes involving RUNX1 at t(5;21)(q15;q22). We present a case of a 71-year-old female with MDS, refractory anemia with excess blasts, type 1, with a combination of two cytogenetic abnormalities, specifically a concomitant translocation between chromosomes 5q15 and 21q22 and deletion of chromosome 5q13q33. Fluorescence in-situ hybridization (FISH) using a probe for RUNX1 (AML1), localized to 21q22, showed three FISH signals for RUNX1, consistent with rearrangement of RUNX1. Therapy was started with Lenalidomide leading to normal blood counts. Most significantly, repeat cytogenetics revealed normal karyotype and resolution of deletion on the long arm of chromosome 5 and a t(5;21). FISH negative for deletion 5q. The results altogether meet criteria for a complete cytogenetic remission (CR). We report a new case of t(5;21)(q15;q22) involving the RUNX1 gene and del(5)(q13q33) in a MDS patient, a combination of chromosomal abnormalities heretofore not reported in the literature. RUNX1 rearrangement is usually associated with an adverse prognosis in AML and MDS. Deletions of 5q are typically associated with poor prognosis in AML, however it is usually associated with a favorable prognosis in MDS. Our patient responded very well to Lenalidomide therapy with achievement of CR. Lenalidomide is approved for treatment of anemia in low and intermediate risk MDS with del (5q), however based on a search of literature it seems that RUNX1 mutations are also more prominent in patients who have responded to Lenalidomide therapy. MDS is a genomically unstable disease. Hence, it is conceivable that our patient started with a 5q minus syndrome and then acquired the second hit RUNX1 translocation leading to an accelerated phase of myeloid neoplasm or refractory anemia with excess blasts, type 1. Hence, the temporal relationship between acquisition of del 5q and RUNX1 rearrangement may have influenced the clinical outcome and possibly response to therapy. PMID:27358895

Comportamiento del Helio en estrellas químicamente peculiares

NASA Astrophysics Data System (ADS)

Malaroda, S. M.; López García, Z.; Leone, F.; Catalano, F.

Las estrellas químicamente peculiares (CP) se caracterizan por tener deficiencias y sobreabundancias de algunos elementos químicos de hasta 106 veces la abundancia solar. Además presentan variaciones en las líneas espectrales. Se piensa que ello se debe a que los campos magnéticos presentes en este tipo de estrellas son principalmente dipolares, con un eje de simetría diferente del eje de rotación. La distribución de los elementos sobreabundantes y deficientes no es homogénea sobre la superficie estelar y las variaciones observadas serían una consecuencia directa de la rotación estelar. Entre los elementos con abundancia anómala se encuentra el Helio, cuyas líneas tienen intensidades que no son consistentes con una abundancia normal, que no puede ser determinada del modo usual, o sea, considerando una atmósfera con composición solar. Con el fin de determinar la abundancia de este elemento, se inició un estudio de estrellas anómalas de Helio, Hew y He strong. Además se determinarán las abundancias de otros elementos anómalos como ser el Si, Cr, Mg, Mn y Fe. Las mismas se determinan del modo tradicional, o sea: a) medida de los anchos equivalentes de las líneas de los distintos elementos analizados; b) adopción de la temperatura efectiva, gravedad y abundancia del Helio; c) cálculo del modelo de atmósfera d) comparación con las observaciones y reinicio de un proceso iterativo hasta lograr un acuerdo entre todos los parámetros analizados. Las observaciones se llevaron a cabo en el Complejo Astronómico El Leoncito. Se observaron setenta y ocho estrellas anómalas de Helio. En este momento se está procediendo a calcular las abundancias correspondientes a los distintos elementos químicos. Para ello se hace uso de los modelos de Kurucz, ATLAS9. Los cálculos NLTE de las líneas de Helio se llevan a cabo con el programa MULTI y se compararán con los realizados con el programa WIDTH9 de Kurucz (LTE), con el objeto de resaltar la importancia de los efectos NLTE.

Validation of maternal cardiac output assessed by transthoracic echocardiography against pulmonary artery catheterization in severely ill pregnant women: prospective comparative study and systematic review.

PubMed

Cornette, J; Laker, S; Jeffery, B; Lombaard, H; Alberts, A; Rizopoulos, D; Roos-Hesselink, J W; Pattinson, R C

2017-01-01

Most severe pregnancy complications are characterized by profound hemodynamic disturbances, thus there is a need for validated hemodynamic monitoring systems for pregnant women. Pulmonary artery catheterization (PAC) using thermodilution is the clinical gold standard for the measurement of cardiac output (CO), however this reference method is rarely performed owing to its invasive nature. Transthoracic echocardiography (TTE) allows non-invasive determination of CO. We aimed to validate TTE against PAC for the determination of CO in severely ill pregnant women. This study consisted of a meta-analysis combining data from a prospective study and a systematic review. The prospective arm was conducted in Pretoria, South Africa, in 2003. Women with severe pregnancy complications requiring invasive monitoring with PAC according to contemporary guidelines were included. TTE was performed within 15 min of PAC and the investigator was blinded to the PAC measurements. Comparative measurements were extracted from similar studies retrieved from a systematic review of the literature and added to a database. Simultaneous CO measurements by TTE and PAC were compared. Agreement between methods was assessed using Bland-Altman statistics and intraclass correlation coefficients (ICC). Thirty-four comparative measurements were included in the meta-analysis. Mean CO values obtained by PAC and TTE were 7.39 L/min and 7.18 L/min, respectively. The bias was 0.21 L/min with lower and upper limits of agreement of -1.18 L/min and 1.60 L/min, percentage error was 19.1%, and ICC between the two methods was 0.94. CO measurements by TTE show excellent agreement with those obtained by PAC in pregnant women. Given its non-invasive nature and availability, TTE could be considered as a reference for the validation of other CO techniques in pregnant women. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. Las complicaciones del embarazo más graves se caracterizan por trastornos hemodinámicos serios, debido a los cuales existe la necesidad de sistemas validados de monitorización hemodinámica para mujeres embarazadas. Aunque la cateterización de la arteria pulmonar (CAP) mediante termodilución es el patrón de referencia clínico para la medición del gasto cardíaco (GC), este método se usa con poca frecuencia debido a su naturaleza invasiva. La ecocardiografía transtorácica (ETT) permite la determinación no invasiva del GC. El objetivo de este estudio fue validar la ETT frente al CAP para determinar el GC en mujeres embarazadas gravemente enfermas. MÉTODOS: Este estudio consistió en un metaanálisis que combinó datos de un estudio prospectivo y una revisión sistemática. El estudio prospectivo se llevó a cabo en Pretoria (Sudáfrica) en 2003. Se incluyeron mujeres con complicaciones graves en el embarazo que requerían una monitorización invasiva mediante CAP según las directrices de ese momento. Se realizó una ETT en un plazo de 15 minutos de haber realizado el CAP y el investigador no tuvo acceso a las mediciones del CAP. Las mediciones comparativas se extrajeron de estudios similares obtenidos a partir de una revisión sistemática de la literatura y se añadieron a una base de datos. Se compararon las mediciones simultáneas del GC mediante ETT y CAP. La concordancia entre métodos se evaluó a través del método estadístico de Bland-Altman y de coeficientes de correlación intraclase (CCI). Se incluyeron treinta y cuatro mediciones comparativas en el metaanálisis. Los valores medios del GC obtenidos mediante CAP y ETT fueron de 7,39 l/min y 7.18 l/min, respectivamente. El sesgo fue de 0,21 l/min, siendo los límites inferior y superior de la concordancia de -1,18 l/min y 1.60 l/min; el error porcentual fue del 19,1%, y el CCI entre ambos métodos fue de 0,94. Las mediciones del GC en mujeres embarazadas mediante ETT muestran una excelente concordancia con las obtenidas mediante CAP. Dada su naturaleza no invasiva y su disponibilidad, la ETT podría considerarse como referencia para la validación de otras técnicas relacionadas con el GC en mujeres embarazadas. : ,。(pulmonary artery catheterization,PAC)(cardiac output,CO),,。(transthoracic echocardiography,TTE)CO。PACTTECO。 : meta。2003。PAC。PAC 15 minTTE,PAC。,。TTEPACCO。Bland-Altman(intraclass correlation coefficients,ICC)。 : meta34。PACTTECO7.39 L/min7.18 L/min。-1.18 L/min、1.60 L/min0.21 L/min,19.1%,ICC0.94。 : TTECOPACCO。,TTECO。. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Magma-tectonic Interaction at Laguna del Maule, Chile

NASA Astrophysics Data System (ADS)

Keranen, K. M.; Peterson, D. E.; Miller, C. A.; Garibaldi, N.; Tikoff, B.; Williams-Jones, G.

2016-12-01

The Laguna del Maule Volcanic Field (LdM), Chile, the largest concentration of rhyolite <20 kyr globally, exhibits crustal deformation at rates higher than any non-erupting volcano. The interaction of large magmatic systems with faulting is poorly understood, however, the Chaitén rhyolitic system demonstrated that faults can serve as magma pathways during an eruption. We present a complex fault system at LdM in close proximity to the magma reservoir. In March 2016, 18 CHIRP seismic reflection lines were acquired at LdM to identify faults and analyze potential spatial and temporal impacts of the fault system on volcanic activity. We mapped three key horizons on each line, bounding sediment packages between Holocene onset, 870 ybp, and the present date. Faults were mapped on each line and offset was calculated across key horizons. Our results indicate a system of normal-component faults in the northern lake sector, striking subparallel to the mapped Troncoso Fault SW of the lake. These faults correlate to prominent magnetic lineations mapped by boat magnetic data acquired February 2016 which are interpreted as dykes intruding along faults. We also imaged a vertical fault, interpreted as a strike-slip fault, and a series of normal faults in the SW lake sector near the center of magmatic inflation. Isochron and fault offset maps illuminate areas of growth strata and indicate migration and increase of fault activity from south to north through time. We identify a domal structure in the SW lake sector, coincident with an area of low magnetization, in the region of maximum deformation from InSAR results. The dome experienced 10 ms TWT ( 10 meters) of uplift throughout the past 16 kybp, which we interpret as magmatic inflation in a shallow magma reservoir. This inflation is isolated to a 1.5 km diameter region in the hanging wall of the primary normal fault system, indicating possible fault-facilitated inflation.

Association of thymidylate synthase gene 3'-untranslated region polymorphism with sensitivity of non-small cell lung cancer to pemetrexed treatment: TS gene polymorphism and pemetrexed sensitivity in NSCLC.

PubMed

Wang, Xia; Wang, Yadi; Wang, Yue; Cheng, Jian; Wang, Yanyun; Ha, Minwen

2013-01-25

Thymidylate synthase (TS) is a key enzyme responsible for DNA synthesis and repair. Altered expression of TS protein or TS gene polymorphisms has been associated with cancer progression and treatment response. This study investigated the expressions of TS and its gene SNPs in non-small cell lung cancer (NSCLC), and then its association with sensitivity to pemetrexed treatment. Immunohistochemistry and qRT-PCR were performed on 160 resected NSCLC specimens and corresponding normal tissues to assess the expressions of TS protein and TS mRNA, and for associations with clinicopathological data. Blood samples of 106 lung adenocarcinoma patients were examined for polymorphisms of the TS gene 3'-UTR 1494del 6 bp, which was then investigated for associations with responses of the patients to pemetrexed treatment and survival. Expression of both TS protein and its mRNA was elevated in NSCLC tissues compared with matched normal tissues, and significantly higher in lung squamous cell carcinoma than in lung adenocarcinoma. TS expression was associated with poor tumor differentiation. Furthermore, the genotyping data showed that 56% of lung adenocarcinoma patients had the TS gene 3'-UTR 1494 bp (-6 bp/-6 bp) genotype and the rest had TS gene 3'-UTR 1494 bp (-6 bp/+6 bp). There was no TS 3'-UTR 1494 bp (+6 bp/+6 bp) genotype in any patients. Statistical analysis revealed that gender, tumor stage, and TS 3'-UTR 1494del 6 bp polymorphism were significant prognostic factors after short-term pemetrexed treatment. Log-rank analysis revealed that patients with the (-6 bp/-6 bp) genotype had significantly better progression-free and overall survival than patients with (-6 bp/+6 bp). This study showed that TS protein is highly expressed in NSCLC and that polymorphisms of TS 3'-UTR 1494del 6 bp are associated with sensitivity of lung adenocarcinoma patients to pemetrexed treatment. This suggests that TS gene polymorphisms should be further evaluated as prognostic markers for personalized therapy in lung adenocarcinoma.

Decoding how a soil bacterium extracts building blocks and metabolic energy from ligninolysis provides road map for lignin valorization (Towards Lignin valorization: How a soil bacterium extracts building blocks and metabolic energy from "Lignolysis")

DOE Office of Scientific and Technical Information (OSTI.GOV)

Varman, Arul M.; He, Lian; Follenfant, Rhiannon

Lignin is a major resources for the production of next generation renewable aromatics. Sphingobium sp. SYK-6 is a bacterium that has been well-studied for the breakdown of lignin-derived compounds. There has been a lot of interest in SYK-6 lignolytic activity and many recent works have focused on understanding the unique catabolic pathway it possesses for the degradation of lignin derived monomers and oligomers. Furthermore, there has been no prior effort in understanding the central fluxome based on lignin derived substrates into value-added chemicals.

Ultrasound and photochemical procedures for nanocatalysts preparation: application in photocatalytic biomass valorization.

PubMed

Colmenares, Juan Carlos

2013-07-01

Nano-photocatalysis is becoming increasingly important due to its multiple applications and multidisciplinary aspects. Applications such as water/air purification, solar energy storage, chemicals production and optoelectronics are some of the most promising. In recent years, the development of novel environmental friendly and cost efficient methods for materials preparation that could replace the old ones is on demand. Unconventional and "soft" techniques such as sonication and photochemistry offer huge possibilities for the synthesis of a broad spectrum of nanostructured materials (e.g., nano-photocatalysts). In the present study, I focus on ultrasound and photochemical procedures for the preparation of nanostructured photocatalysts (e.g., supported metals, metal oxides) and their application in food organic wastes valorization.

Decoding how a soil bacterium extracts building blocks and metabolic energy from ligninolysis provides road map for lignin valorization (Towards Lignin valorization: How a soil bacterium extracts building blocks and metabolic energy from "Lignolysis")

DOE PAGES

Varman, Arul M.; He, Lian; Follenfant, Rhiannon; ...

2016-09-15

Lignin is a major resources for the production of next generation renewable aromatics. Sphingobium sp. SYK-6 is a bacterium that has been well-studied for the breakdown of lignin-derived compounds. There has been a lot of interest in SYK-6 lignolytic activity and many recent works have focused on understanding the unique catabolic pathway it possesses for the degradation of lignin derived monomers and oligomers. Furthermore, there has been no prior effort in understanding the central fluxome based on lignin derived substrates into value-added chemicals.

Shell Biorefinery: Dream or Reality?

PubMed

Chen, Xi; Yang, Huiying; Yan, Ning

2016-09-12

Shell biorefinery, referring to the fractionation of crustacean shells into their major components and the transformation of each component into value-added chemicals and materials, has attracted growing attention in recent years. Since the large quantities of waste shells remain underexploited, their valorization can potentially bring both ecological and economic benefits. This Review provides an overview of the current status of shell biorefinery. It first describes the structural features of crustacean shells, including their composition and their interactions. Then, various fractionation methods for the shells are introduced. The last section is dedicated to the valorization of chitin and its derivatives for chemicals, porous carbon materials and functional polymers. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Hydrogeologic uncertainties and policy implications: The Water Consumer Protection Act of Tucson, Arizona, USA

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.

Osprey distribution, abundance, and status in western North America: I. The northern California population

USGS Publications Warehouse

Henny, Charles J.; Dunaway, David J.; Mallette, Robert D.; Koplin, James R.

1978-01-01

An estimated 355± 40 pairs (95 percent C.I.) of Ospreys (Pandion haliaetus carolinensis) nested in the northern California survey area in 1975. Eighty-one pairs were estimated along the extreme northern coast in Del Norte and Humboldt Counties. One hundred and forty-four pairs were estimated along California's northern coast in Mendociuo, Sonoma, and Marin Counties. The northern interior region, primarily in Siskiyou, Trinity, Shasta, Lassen, and Plumas Counties, contained an estimated 130 pairs. Forty-nine percent of the interior Osprey population is associated with reservoirs that were not present in 1900. We believe more Ospreys are present in the interior now than 75 years ago because of the increase in suitable habitat; nevertheless, populations at Shasta Lake and Clair Engle Lake are now exhibiting below-normal production rates and local declines. The long-term status of the coastal population, nesting along rivers, streams, and bays, is not clear. Recent production rates from two segments of the coastal population appear to be normal, but production at Usal Creek is below normal.

VALOR joint oscillation analysis using multiple LAr-TPCs in the Booster Neutrino Beam at Fermilab

NASA Astrophysics Data System (ADS)

Andreopoulos, C.; Barry, C.; Bench, F.; Chappell, A.; Dealtry, T.; Dennis, S.; Escudero, L.; Jones, R.; Grant, N.; Roda, M.; Sgalaberna, D.; Shah, R.

2017-09-01

Anomalies observed by different experiments, the most significant ones being the ∼3.8 sigma νe appearance in a ∼50 MeV νµ beam from muon decay at rest observed by the LSND experiment and the ∼3.8 sigma νe and {\\bar{ν }}e appearance in a ∼1 GeV neutrino beam from pion decay in flight observed by MiniBooNE, suggest the existence of sterile neutrinos. The Short Baseline Neutrino (SBN) program at Fermilab aims to perform a sensitive search for sterile neutrinos by performing analyses of νe appearance and νµ disappearance employing three Liquid Argon Time Projection Chambers (LAr-TPCs) at different baselines. The VALOR neutrino fitting group was established within the T2K experiment and has led numerous flagship T2K oscillation analyses, and provided sensitivity and detector optimisation studies for DUNE and Hyper-K. The neutrino oscillation framework developed by this group is able to perform fits of several samples and systematic parameters within different neutrino models and experiments. Thus, VALOR is an ideal environment for the neutrino oscillation fits using multiple LAr-TPC detectors with proper treatment of correlated systematic uncertainties necessary for the SBN analyses.

Microgravity changes at the Laguna del Maule volcanic field: Magma-induced stress changes facilitate mass addition

NASA Astrophysics Data System (ADS)

Miller, C. A.; Le Mével, H.; Currenti, G.; Williams-Jones, G.; Tikoff, B.

2017-04-01

Time-dependent, or 4-D, microgravity changes observed at the Laguna del Maule volcanic field, Chile, since 2013, indicate significant (1.5 × 1011 kg) ongoing mass injection. Mass injection is focused along the Troncoso fault, and subparallel structures beneath the lake at 1.5-2 km depth, and is best modeled by a vertical rectangular prism source. The low-density change (156 to 307 kg/m3) and limited depth extent suggest a mechanism of hydrothermal fluid intrusion into existing voids, or voids created by the substantial uplift, rather than deeper-sourced dike intrusion of rhyolite or basalt magma. Although the gravity changes are broadly spatially coincident with ongoing surface deformation, existing models that explain the deformation are deeper sourced and cannot explain the gravity changes. To account for this discrepancy and the correspondence in time of the deformation and gravity changes, we explore a coupled magmatectonic interaction mechanism that allows for shallow mass addition, facilitated by deeper magma injection. Computing the strain, and mean, normal, and Coulomb stress changes on northeast trending faults, caused by the opening of a sill at 5 km depth, shows an increase in strain and mean and normal stresses along these faults, coincident with the areas of mass addition. Seismic swarms in mid-2012 to the west and southwest of the mass intrusion area may be responsible for dynamically increasing permeability on the Troncoso fault, promoting influx of hydrothermal fluids, which in turn causes larger gravity changes in the 2013 to 2014 interval, compared to the subsequent intervals.

Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria

PubMed Central

Ichikawa, Shoji; Tuchman, Shamir; Padgett, Leah R.; Gray, Amie K.; Baluarte, H. Jorge; Econs, Michael J.

2013-01-01

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia, variable degrees of rickets/osteomalacia, and hypercalciuria secondary to increased serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels. HHRH is caused by mutations in the SLC34A3 gene, which encodes sodium-phosphate co-transporter type IIc. A 6 ½-year-old female presented with a history of nephrolithiasis. Her metabolic evaluation revealed increased 24- hour urine calcium excretion with high serum calcium, low intact parathyroid hormone (PTH) levels, and elevated 1,25(OH)2D level. In addition, the patient had low to low-normal serum phosphorus with high urine phosphorus. The patient had normal stature; without rachitic or boney deformities or a history of fractures. Genetic analysis of SLC34A3 revealed the patient to be a compound heterozygote for a novel single base pair deletion in exon 12 (c.1304delG) and 30-base pair deletion in intron 6 (g.1440–1469del). The single-base pair mutation causes a frameshift, which results in premature stop codon. The intronic deletion is likely caused by misalignment of the 4-basepair homologous repeats and results in the truncation of an already small intron to 63 bp, which would impair proper RNA splicing of the intron. This is the fourth unique intronic deletion identified in patients with HHRH, suggesting the frequent occurrence of sequence misalignments in SLC34A3 and the importance of screening introns in patients with HHRH. PMID:24176905

Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria.

PubMed

Ichikawa, Shoji; Tuchman, Shamir; Padgett, Leah R; Gray, Amie K; Baluarte, H Jorge; Econs, Michael J

2014-02-01

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia, variable degrees of rickets/osteomalacia, and hypercalciuria secondary to increased serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels. HHRH is caused by mutations in the SLC34A3 gene, which encodes sodium-phosphate co-transporter type IIc. A 6-1/2-year-old female presented with a history of nephrolithiasis. Her metabolic evaluation revealed increased 24-hour urine calcium excretion with high serum calcium, low intact parathyroid hormone (PTH), and elevated 1,25(OH)2D. In addition, the patient had low to low-normal serum phosphorus with high urine phosphorus. The patient had normal stature; without rachitic or boney deformities or a history of fractures. Genetic analysis of SLC34A3 revealed the patient to be a compound heterozygote for a novel single base pair deletion in exon 12 (c.1304delG) and 30-base pair deletion in intron 6 (g.1440-1469del). The single-base pair mutation causes a frameshift, which results in premature stop codon. The intronic deletion is likely caused by misalignment of the 4-basepair homologous repeats and results in the truncation of an already small intron to 63bp, which would impair proper RNA splicing of the intron. This is the fourth unique intronic deletion identified in patients with HHRH, suggesting the frequent occurrence of sequence misalignments in SLC34A3 and the importance of screening introns in patients with HHRH. © 2013.

Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy.

PubMed

Koy, Anne; Assmann, Birgit; Klepper, Joerg; Mayatepek, Ertan

2011-12-01

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by a defect in glucose transport across the blood-brain barrier. The main symptoms are epilepsy, developmental delay, movement disorders, and deceleration of head circumference. A ketogenic diet has been shown to be effective in controlling epilepsy in GLUT1-DS. We report a female child (3 y 4 mo) who presented with delayed psychomotor development and frequent episodes of staggering, impaired vigilance, and vomiting that resolved promptly after food intake. Electroencephalography was normal. The cerebrospinal fluid-blood glucose ratio was 0.42 (normal ≥ 0.45). GLUT1-DS was confirmed by molecular genetic testing, which showed a novel de novo heterozygous mutation in the SLC2A1 gene (c.497_499delTCG, p.VAL166del). Before starting a ketogenic diet, the child's cognitive development was tested using the Snijders-Oomen Non-Verbal Intelligence Test, which revealed a heterogeneous intelligence profile with deficits in her visuomotor skills and spatial awareness. Her motor development was delayed. Three months after introducing a ketogenic diet, she showed marked improvement in speech and motor development, as tested by the Movement Assessment Battery for Children (manual dexterity 16th centile, ball skills 1st centile, static and dynamic balance 5th centile). This case demonstrates that GLUT1-DS should be investigated in individuals with unexplained developmental delay. Epilepsy is not a mandatory symptom. The ketogenic diet is also beneficial for non-epileptic symptoms in GLUT1-DS. © The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.

[Takotsubo cardiomyopathy in the context of Staphylococcus aureus sepsis].

PubMed

Núñez, D; Bermejo, R; Rodríguez-Velasco, A

2014-03-01

Takotsubo cardiomyopathy consists of a transient dysfunction of the left ventricle. It is characterised by an impaired left ventricular segmentary contractility, without significant coronary lesions in the coronary angiography. It usually occurs after an episode of physical or emotional stress. We present the case of a 70 year-old woman, who, in the postoperative period of an ankle osteosynthesis, developed a Takotsubo cardiomyopathy in the context of a sepsis caused by Staphylococcus aureus. She presented with acute lung oedema and a clinical picture of low cardiac output. The echocardiogram showed left ventricular medioapical akinesia. Coronary angiography was normal. She was treated with supportive measures with good progress. At 33 days from onset she was able to be discharged from hospital to home with normal systolic function on echocardiography. Copyright © 2012 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Published by Elsevier España. All rights reserved.

[Anaesthetic implications in a pregnant patient with an extreme thrombocytopenia due to a May-Hegglin anomaly: general o regional anaesthesia?].

PubMed

García Vallejo, G; Cabellos, M; Kabiri, M; Fraile, J R; Cuesta, J

2014-10-01

The May-Hegglin anomaly is an inherited disorder, so uncommon that the incidence is still unknown. It is characterized by macro-thrombocytopenia with normal platelet function and cytoplasmic inclusion bodies in granulocytes. The case is reported of a 28-year-old primiparous patient who had an urgent caesarean section due to failed induction of labour. The patient had no history of abnormal bleeding. Other causes of thrombocytopenia or platelet dysfunction, such as preeclampsia, HELLP syndrome, or placental abruption, were ruled out. The platelet count prior to surgery was 20,900/mm(3) with normal platelet function. General anaesthesia was performed. No excessive bleeding occurred and a platelet transfusion was not needed. Copyright © 2013 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Published by Elsevier España. All rights reserved.

Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss

PubMed Central

Khateb, Samer; Zelinger, Lina; Ben-Yosef, Tamar; Crystal-Shalit, Ornit; Gross, Menachem; Banin, Eyal; Sharon, Dror

2012-01-01

We used a combined approach of homozygosity mapping and whole exome sequencing (WES) to search for the genetic cause of autosomal recessive retinitis pigmentosa (arRP) in families of Yemenite Jewish origin. Homozygosity mapping of two arRP Yemenite Jewish families revealed a few homozygous regions. A subsequent WES analysis of the two index cases revealed a shared homozygous novel nucleotide deletion (c.1220delG) leading to a frameshift (p.Gly407Glufs*56) in an alternative exon (#15) of USH1C. Screening of additional Yemenite Jewish patients revealed a total of 16 homozygous RP patients (with a carrier frequency of 0.008 in controls). Funduscopic and electroretinography findings were within the spectrum of typical RP. While other USH1C mutations usually cause Usher type I (including RP, vestibular dysfunction and congenital deafness), audiometric screening of 10 patients who are homozygous for c.1220delG revealed that patients under 40 years of age had normal hearing while older patients showed mild to severe high tone sensorineural hearing loss. This is the first report of a mutation in a known USH1 gene that causes late onset rather than congenital sensorineural hearing loss. The c.1220delG mutation of USH1C accounts for 23% of RP among Yemenite Jewish patients in our cohort. PMID:23251578

Polymorphisms of glutathione S-transferase π 1 and toll-like receptors 2 and 9: Association with breast cancer susceptibility

PubMed Central

AL-HARRAS, MOHAMMAD F.; HOUSSEN, MAHA E.; SHAKER, MOHAMED E.; FARAG, KAMEL; FAROUK, OMAR; MONIR, REHAN; EL-MAHDY, RASHA; ABO-HASHEM, EKBAL M.

2016-01-01

Polymorphisms in antioxidant enzymes and innate immune receptors have been implicated in the development of various types of cancer. The present study aimed to investigate whether polymorphisms of glutathione S-transferase π 1 (GSTP1) and toll-like receptors (TLRs) 2 and 9 are associated with susceptibility to breast cancer among females. The study was conducted on 72 Egyptian female patients with breast cancer, along with 100 healthy volunteers. Polymorphisms of GSTP1 (codon 105 Ile/Val) and TLR9 rs187084 (1237T/C) genes were assessed by polymerase chain reaction (PCR)-restriction fragment length polymorphism, while the −196 to −174 deletion/insertion (del/ins) polymorphism of TLR2 was detected by PCR. The results indicated a decrease in GSTP1 Val allele frequency in breast cancer patients compared with healthy controls, at rates of 22.9 vs. 32.5%, respectively. In addition, the breast cancer group demonstrated a decreased TLR9 C allele frequency compared with the control group, at rates of 36.1 vs. 51.5%, respectively (P=0.0047). A non-significant difference was detected in the frequency of the TLR2 −196 to −174 del allele in breast cancer patients when compared to normal controls. In conclusion, these results suggested that the GSTP1 Val and TLR9 1237C alleles, but not TLR2 −196 to −174 del, are likely to be associated with breast cancer development among females. PMID:26998146

Polymorphisms of glutathione S-transferase π 1 and toll-like receptors 2 and 9: Association with breast cancer susceptibility.

PubMed

Al-Harras, Mohammad F; Houssen, Maha E; Shaker, Mohamed E; Farag, Kamel; Farouk, Omar; Monir, Rehan; El-Mahdy, Rasha; Abo-Hashem, Ekbal M

2016-03-01

Polymorphisms in antioxidant enzymes and innate immune receptors have been implicated in the development of various types of cancer. The present study aimed to investigate whether polymorphisms of glutathione S-transferase π 1 (GSTP1) and toll-like receptors (TLRs) 2 and 9 are associated with susceptibility to breast cancer among females. The study was conducted on 72 Egyptian female patients with breast cancer, along with 100 healthy volunteers. Polymorphisms of GSTP1 (codon 105 Ile/Val) and TLR9 rs187084 (1237T/C) genes were assessed by polymerase chain reaction (PCR)-restriction fragment length polymorphism, while the -196 to -174 deletion/insertion (del/ins) polymorphism of TLR2 was detected by PCR. The results indicated a decrease in GSTP1 Val allele frequency in breast cancer patients compared with healthy controls, at rates of 22.9 vs. 32.5%, respectively. In addition, the breast cancer group demonstrated a decreased TLR9 C allele frequency compared with the control group, at rates of 36.1 vs. 51.5%, respectively (P=0.0047). A non-significant difference was detected in the frequency of the TLR2 -196 to -174 del allele in breast cancer patients when compared to normal controls. In conclusion, these results suggested that the GSTP1 Val and TLR9 1237C alleles, but not TLR2 -196 to -174 del, are likely to be associated with breast cancer development among females.

Mutation analysis of 12 genes in Chinese families with congenital cataracts

PubMed Central

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

Production and quality assurance in the SIT Africa Mediterranean fruit fly (Diptera: Tephritidae) rearing facility in South Africa

DOE Office of Scientific and Technical Information (OSTI.GOV)

Barnes, B.; Rosenberg, S.; Arnolds, L.

A mass-rearing facility for Mediterranean fruit fly Ceratitis capitata (Wiedemann) was commissioned in Stellenbosch in 1999 to produce sterile male fruit flies for a sterile insect technique (SIT) project in commercial fruit orchards and vineyards in the Western Cape province of South Africa. The mass-rearing procedure was largely based on systems developed by the FAO/IAEA Agriculture and Biotechnology Laboratory, Seibersdorf, Austria. A number of genetic sexing strains were used to produce only males for release. Initial cramped rearing and quality management conditions were alleviated in 2001 with the construction of a new adult rearing room and quality control laboratory. Inmore » 2002 a comprehensive Quality Management System was implemented, and in 2003 an improved genetic sexing strain, VIENNA 8, was supplied by the FAO/IAEA Laboratory in Seibersdorf. For most of the first 3 years the facility was unable to supply the required number of sterile male Mediterranean fruit flies for the SIT program without importing sterile male pupae from another facility. From mid-2002, after the quality management system was implemented, both production and quality improved but remained below optimum. After the introduction of the VIENNA 8 genetic sexing strain, and together with an improvement in the climate control equipment, production stability, and quality assurance parameters improved substantially. The critical factors influencing production and quality were an inadequate rearing infrastructure, problems with the quality of the larval diet, and the initial absence of a quality management system. The results highlight the importance of effective quality management, the value of a stable and productive genetic sexing strain, and the necessity for a sound funding base for the mass-rearing facility. (author) [Spanish] La facilidad para criar en masa la mosca mediterranea de la fruta, Ceratitis capitata (Wiedemann) fue comisionada en Stellenbosch en 1999 para producir machos esteriles de moscas para el proyecto de la tecnica del insecto esteril (TIE) en huertos de frutos y vinas comerciales en la provincia del Cabo Occidental del Sudafrica. El procedimiento de criar en masa fue en su mayor parte basado en los sistemas desarrollados por el Laboratorio de Agricultura y Biotecnologia de la FAO/IAEA, Seibersdorf, Austria. Un numero de razas que separara los sexos geneticamente fueron utilizadas para producir solo machos para la liberacion. La congestionada condicion inicial para criar las moscas y su manejo de calidad fueron aliviadas en 2001 con la construccion de un nuevo cuarto de cria para adultos y un laboratorio de control de calidad. En 2002, un Sistema de Manejo de Calidad comprensivo fue implementado, y en 2003 una raza mejorada que separa los sexos geneticamente, VIENNA 8, fue proveido por el Laboratorio de la FAO/IAEA en Seibersdorf. En la mayor parte de los primeros 3 anos la facilidad no pudo suplir el numero requerido de machos esteriles de la mosca mediterranea de la fruta para el programa de TIE sin la necesidad para importar machos esteriles de otra facilidad. Desde medio del ano de 2002, despues que el sistema de manejo de calidad fue implementado, la produccion y la calidad mejoraron pero aun quedaron por debajo del nivel optimo. Despues de la introduccion de la raza VIENNA 8 que separa los sexos geneticamente, y junto con el equipo mejorado de control de clima, la estabilidad y los parametros de seguridad de calidad mejoraron substancialmente. Los factores criticos que influyeron en la produccion y la calidad fueron la infraestructura inadecuada para criar las moscas, problemas con la calidad de la dieta para las larvas y la ausencia inicial de un sistema de manejo de calidad. Los resultados muestran claramente la importancia de un manejo efectivo de la calidad, el valor de una raza productiva que separa los sexos geneticamente y la necesidad de contar con una base solida de financimiento para la infraestructura de una cria en masa. (author)« less

Hepatic and renal metallothionein concentrations in Commerson's dolphins (Cephalorhynchus commersonii) from Tierra del Fuego, South Atlantic Ocean.

PubMed

Cáceres-Saez, Iris; Polizzi, Paula; Romero, Belén; Dellabianca, Natalia A; Ribeiro Guevara, Sergio; Goodall, R Natalie P; Cappozzo, H Luis; Gerpe, Marcela

2016-07-15

The Commerson's dolphin is the most common endemic odontocete of subantarctic waters of Tierra del Fuego, Argentina incidentally caught in fishing nets. The species is classified as "Data Deficient" by the IUCN. Metallothioneins (MTs) are considered as suitable biomarkers for health and environmental monitoring. The aims of the study were to assess MT concentrations in the liver and kidney of bycaught specimens. Moreover, correlations with Zn, Se, Cd, Ag and Hg, and the molar ratios of MT:metals were estimated to evaluate if there is an indication of their respective protective role against metal toxicity in tissues. Hepatic and renal MT concentrations were similar, ranging from 11.6 to 29.1nmol·g(-1) WW, and Kidney/Liver ratios ranging from 0.73 to 1.93 corresponded to normal ranges. Results suggest that MTs are related to physiological ranges for the species. This information constitutes the first MT report on Commerson's dolphins and possibly considered as baseline for species' conservation. Copyright © 2016 Elsevier Ltd. All rights reserved.

Synthesis of Pure Ca(OH)2 Nanoparticles and Superhydrophobic Suspensions: Consolidation and Waterproofing of Architectural Heritage Materials

NASA Astrophysics Data System (ADS)

Madrid Mendoza, Juan Antonio

El objetivo de esta tesis es investigar sobre la sintesis, propiedades y aplicaciones de las nanoparticulas de Ca(OH)2 para consolidar materiales patrimoniales arquitectonicos. Las nanoparticulas de Ca(OH)2 se han utilizado recientemente en la conservacion del patrimonio, aunque algunos aspectos de la sintesis no son completamente comprendidos. En el presente estudio, hemos desarrollado metodos optimizados para obtener nanoparticulas de alta pureza mediante sintesis de fase homogenea y heterogenea utilizando diferentes materiales de partida. Se han realizado del orden de cien sintesis en diferentes condiciones para comprobar la validez y fiabilidad del metodo sintetico. Los resultados confirman que la temperatura de reaccion tiene una gran influencia en el tamano y la morfologia de las nanoparticulas de Ca(OH)2. Ademas, se ha investigado la estabilidad de las nanoparticulas a lo largo del tiempo en mezclas de 2-propanol / agua, en las que se encontro que la ausencia de agua era critica para evitar la aglomeracion de Ca(OH)2. Una vez dispersas en 2-propanol, las nanoparticulas se han utilizado para consolidar sustratos reales (piedra, adobe y estuco) confirmando su alto rendimiento en terminos de consolidacion superficial y - cuando se mezcla con ciertos surfactantes - en reduccion de la absorcion de agua. Asimismo, se ha investigado el uso de nanoparticulas modificadas basadas en M(OH)2, donde M=Ca2+, Mg2+, con el objetivo de mejorar tanto la cohesion superficial como la durabilidad de los materiales patrimoniales (p. ej. piedra Tabaire). Finalmente, el tratamiento de consolidacion basado en nanoparticulas puras de Ca(OH)2 se utilizo en emplazamientos con valor patrimonial, como edificios historicos y yacimientos arqueologicos (Teatro Romano de Cartagena) obteniendo resultados satisfactorios. The aim of this thesis is to investigate on the synthesis, properties and applications of Ca(OH)2 nanoparticles to consolidate architectural heritage materials. Ca(OH)2 nanoparticles have recently been used in heritage conservation, although some aspects of the synthesis are not fully-understood. In the present study, we have developed optimised methods for obtaining high-purity nanoparticles based on homogenous and heterogeneous phase synthesis using different starting materials. Around one hundred syntheses have been performed to test the validity and reliability of the synthetic method in different conditions. The results confirm that the reaction temperature has a great influence on the size and morphology of Ca(OH)2 nanoparticles. Besides, the nanoparticles stability has been investigated over time in 2-propanol / water mixtures, in which the absence of water was found to be critical to avoid Ca(OH)2 agglomeration. Once dispersed in 2-propanol, the nanoparticles have been used to consolidate real substrates (stone, adobe and stucco) confirming their high performance in terms of surface consolidation and - when mixed with certain surfactants - water absorption. Likewise, the use of modified nanoparticles based on M(OH)2, where M=Ca2+, Mg2+, has been investigated with the aim of improving both the surface cohesion and durability of heritage materials (e.g. Tabaire stone). Finally, the consolidation treatment consisting in pure Ca(OH)2 nanoparticles has been used in cultural heritage sites, such as historical buildings and archaeological monuments (Roman Theatre of Cartagena) leading to satisfactory results.

[Globalization and environmentalism: polyphonic ethnicities in the Amazon].

PubMed

Garnelo, Luiza; Sampaio, Sully

2005-01-01

The article examines the issue of globalization, along with its contradictions and the ways in which it guides and shapes specific situations within the Amazon's present-day reality, while simultaneously engendering the uniformization of economic production and the valorization of cultural differences. The discussion explores the nuances of implementing a massified, standardized productive base that paradoxically fosters the valorization of cultural differences and favors alliances between, on the one hand, ethno-political leaders from indigenous Amazon groups and, on the other, environmentalists and other transworld actors who wield strong decision-making power. The article analyzes the indigenous movement's network of alliances and highlights the polyphony of the different political agents that come to clash with each other within this post-modern geopolitical setting.

Caracterización espectroscópica de hielos de interés atmosférico y astrofísico

NASA Astrophysics Data System (ADS)

Escribano, R.

En años recientes se ha incrementado el estudio de procesos físicos y químicos que tienen lugar en la superficie o el interior de hielos, tanto en medios astrofísicos como en la atmósfera terrestre y en otros cuerpos del sistema solar. Se ha comprobado que las partículas heladas actúan como catalizadores de reacciones químicas, que no ocurrirían en su ausencia. En la atmósfera terrestre, es bien conocida la importancia de partículas de hidratos de ácido nítrico, formando las llamadas nubes estratosféricas polares, en los procesos de destrucción de ozono estratosférico. En hielos astrofísicos, átomos como H, C, N y O pueden adherirse o introducirse en la estructura cristalina o amorfa del hielo, y dar lugar a reacciones de formación de moléculas evitando su barrera de activación. Existen partículas heladas en el medio interestelar formando parte de las llamadas nubes moleculares densas y frías, con valores del orden de 106 átomos de H por cm3 y temperaturas entre 3 y 90 K. Alrededor de protoestrellas, pueden formarse hielos de distinta composición, polares o apolares, en las zonas de alejamiento y temperatura decreciente a partir del núcleo caliente. Por su parte, los cometas están formados por un núcleo de hielo y rocas, sobre el que se encuentran adheridas moléculas gaseosas, y una cola, formada por los gases liberados por efecto del calentamiento debido a la radiación solar incidente. En nuestro sistema solar, los polos de La Tierra y de Marte están cubiertos de hielo, así como la mayoría de los cuerpos externos. Los satélites de Júpiter han sido estudiados detalladamente, y se han encontrado en ellos, y en Tritón (satélite de Neptuno), hielos de moléculas como SON2, CO2, N2, CH4 y otros. Para la caracterización espectroscópica de estos hielos se precisan medidas en el laboratorio, aún conociendo la imposibilidad intrínseca de reproducir exactamente las condiciones en que se formaron y se encuentran en los medios astrofísicos. El montaje experimental requiere un sistema que permita alcanzar bajas presiones y temperaturas, formado usualmente por una cámara en cuyo interior se forman películas de hielo de la composición deseada, depositadas sobre un sustrato inerte. Las películas pueden ser a continuación tratadas por diversas técnicas, tales como irradiación UV, bombardeo con electrones o iones, calentamiento y enfriamiento, etc. Habitualmente todos los procesos se controlan por espectroscopía de infrarrojo. La radiación proveniente de un espectrómetro se hace incidir sobre la muestra y se extrae de la cámara mediante ventanas, y se enfoca posteriormente sobre el detector. En el laboratorio de Física Molecular del Instituto de Estructura de la Materia disponemos de un montaje experimental diseñado para el estudio de partículas de hielo similares a las formadas en las nubes estratosféricas polares de nuestra atmósfera. El montaje es similar al descrito anteriormente, excepto en lo que se refiere a las condiciones de presión y temperatura, que son menos estrictas en nuestros experimentos. La extensión de estas condiciones de trabajo a las requeridas en medios astrofísicos es una posibilidad a discutir. Por otra parte, disponemos de un método de cálculo de estructuras periódicas, basado en el programa SIESTA (acrónimo de Spanish Initiative for Electronic Simulations of Thousands of Atoms), que ha proporcionado excelentes resultados en lo relativo a la determinación de estructuras cristalinas y predicción de su espectro infrarrojo, en los sistemas estudiados hasta la fecha, es decir, los hidratos de ácido nítrico de interés atmosféricos. Su aplicación para el estudio de hielos de relevancia astrofísica podría ser del máximo interés.

Analysis of the maximum discharge of karst springs

NASA Astrophysics Data System (ADS)

Bonacci, Ognjen

2001-07-01

Analyses are presented of the conditions that limit the discharge of some karst springs. The large number of springs studied show that, under conditions of extremely intense precipitation, a maximum value exists for the discharge of the main springs in a catchment, independent of catchment size and the amount of precipitation. Outflow modelling of karst-spring discharge is not easily generalized and schematized due to numerous specific characteristics of karst-flow systems. A detailed examination of the published data on four karst springs identified the possible reasons for the limitation on the maximum flow rate: (1) limited size of the karst conduit; (2) pressure flow; (3) intercatchment overflow; (4) overflow from the main spring-flow system to intermittent springs within the same catchment; (5) water storage in the zone above the karst aquifer or epikarstic zone of the catchment; and (6) factors such as climate, soil and vegetation cover, and altitude and geology of the catchment area. The phenomenon of limited maximum-discharge capacity of karst springs is not included in rainfall-runoff process modelling, which is probably one of the main reasons for the present poor quality of karst hydrological modelling. Résumé. Les conditions qui limitent le débit de certaines sources karstiques sont présentées. Un grand nombre de sources étudiées montrent que, sous certaines conditions de précipitations extrêmement intenses, il existe une valeur maximale pour le débit des sources principales d'un bassin, indépendante des dimensions de ce bassin et de la hauteur de précipitation. La modélisation des débits d'exhaure d'une source karstique n'est pas facilement généralisable, ni schématisable, à cause des nombreuses caractéristiques spécifiques des écoulements souterrains karstiques. Un examen détaillé des données publiées concernant quatre sources karstiques permet d'identifier les raisons possibles de la limitation de l'écoulement maximal: (1) la dimension limitée du conduit karstique, (2) l'écoulement en charge, (3) le débordement dans un autre bassin, (4) le débordement du réseau s'écoulant vers la source principale par des sources temporaires dans le même bassin, (5) le stockage d'eau dans la zone surmontant l'aquifère karstique ou la zone épikarstique du bassin, et (6) des facteurs tels que le climat, le sol et le couvert végétal, l'altitude et la géologie du bassin d'alimentation. Le phénomène de capacité limitée du débit maximal des sources karstiques n'est pas pris en compte dans la modélisation des processus de précipitation-ruissellement, ce qui est probablement une des principales raisons de l'actuelle médiocre qualité de la modélisation hydrologique du karst. Resumen. Se presenta un análisis de las condiciones que limitan la descarga de algunos manantiales kársticos. Un elevado número de los manantiales estudiados muestra que, bajo condiciones de precipitación extremadamente intensa, hay un valor máximo para la descarga de los manantiales principales de la cuenca, independientemente del tamaño de ésta y del volumen de precipitación. La modelación de la descarga de manantiales kársticos no es fácil de generalizar y esquematizar debido a la existencia de numerosas características que son inherentes a los sistemas kársticos de flujo. A partir del estudio detallado de los datos publicados sobre cuatro manantiales kársticos, se identificó las posibles causas de la existencia de un caudal máximo de descarga: (1) el tamaño limitado del conducto kárstico, (2) el caudal surgente, (3) la descarga a otras cuencas, (4) el desbordamiento del sistema de flujo principal hacia manantiales intermitentes dentro de la misma cuenca, (5) el almacenamiento de agua en la zona superior del acuífero kárstico o zona epikárstica de la cuenca, y (6) factores tales como el clima, suelo y cubierta vegetal, y la altitud y geología de la zona de captación. La limitación de la descarga máxima de los manantiales kársticos no ha sido incluida en la modelación del proceso lluvia-escorrentía, hecho que probablemente es esencial para explicar los resultados poco satisfactorios de la modelación hidrológica de sistemas kársticos.

An Experimental Animal Model for the Study of Immunity to Entamoeba Histolytica.

DTIC Science & Technology

1983-04-15

off the injury, amebae were proliferating toc rapidly and starting new lesions by invading normal tissue. Masses of trophozoites were often seen...rnu CC 4C- rr rn r NU n 55- B 0 55 to of5 C -- NN 555 3 0 t is 5’ 1 0 It t toC -@ to . ~413 ofU to -4~ 0000% 00 000 00 of 0. a of .0.~ OIL %De-o Sit 0...del sistema fagocftico mononuclear en hamsters infectados con Entamoeba histolytica. Archivos de Investigaci6n M-dica 11(suppl. 1):235-240; 1980b. 68

Functional polymorphisms in NFκB1/IκBα predict risks of chronic obstructive pulmonary disease and lung cancer in Chinese.

PubMed

Huang, Dongsheng; Yang, Lei; Liu, Yehua; Zhou, Yumin; Guo, Yuan; Pan, Mingan; Wang, Yunnan; Tan, Yigang; Zhong, Haibo; Hu, Min; Lu, Wenju; Ji, Weidong; Wang, Jian; Ran, Pixin; Zhong, Nanshan; Zhou, Yifeng; Lu, Jiachun

2013-04-01

Lung inflammation is the major pathogenetic feature for both chronic obstructive pulmonary disease (COPD) and lung cancer. The nuclear factor-kappa B (NFκB) and its inhibitor (IκB) play crucial roles in inflammatory. Here, we tested the hypothesis that single nucleotide polymorphisms (SNPs) in NFκB/IκB confer consistent risks for COPD and lung cancer. Four putative functional SNPs (NFκB1: -94del>insATTG; NFκB2: -2966G>A; IκBα: -826C>T, 2758G>A) were analyzed in southern and validated in eastern Chineses to test their associations with COPD risk in 1,511 COPD patients and 1,677 normal lung function controls, as well as lung cancer risk in 1,559 lung cancer cases and 1,679 cancer-free controls. We found that the -94ins ATTG variants (ins/del + ins/ins) in NFκB1 conferred an increased risk of COPD (OR 1.27, 95% CI 1.06-1.52) and promoted COPD progression by accelerating annual FEV1 decline (P = 0.015). The 2758AA variant in IκBα had an increased risk of lung cancer (OR 1.53, 95% CI 1.30-1.80) by decreasing IκBα expression due to the modulation of microRNA hsa-miR-449a but not hsa-miR-34b. Furthermore, both adverse genotypes exerted effect on increasing lung cancer risk in individuals with pre-existing COPD, while the -94del>insATTG did not in those without pre-existing COPD. However, no significant association with COPD or lung cancer was observed for -2966G>A and -826C>T. Our data suggested a common susceptible mechanism of inflammation in lung induced by genetic variants in NFκB1 (-94del>ins ATTG) or IκBα (2758G>A) to predict risk of COPD or lung cancer.

Physical activity and overweight among adolescents on the Texas-Mexico border

PubMed Central

Pérez, Adriana; Reininger, Belinda M.; Flores, Maria Isabel Aguirre; Sanderson, Maureen; Roberts, Robert E.

2006-01-01

Objective To investigate differences in associations between physical activity and overweight for students in two adjacent areas on the border between Mexico and the United States of America: students in the city of Matamoros, Mexico, and Mexican-American students in the Lower Rio Grande Valley (LRGV) area of southern Texas. Since the extremely high prevalence of overweight among Mexican-American adolescents is well-recognized, we wanted to determine whether overweight has become a problem among Mexican adolescents. Methods Students from 6 schools (n = 669), representing 12% of the ninth-grade students in Matamoros during 2002-2003, and students from 13 high schools (n = 4 736), representing 22% of the ninth-grade students in the LRGV during 2000-2001, completed questionnaires. Polytomous logistic regression was performed to estimate the risk of being at risk of overweight (≥85th percentile to <95th percentile of body mass index (BMI) for age and sex) and the risk of being overweight (≥95th percentile of BMI-for-age and sex) versus normal weight associated with measures of physical activity. For simplicity normal weight includes underweight. Results A higher percentage of adolescents in the LRGV were at risk of overweight (17.2%) in comparison with adolescents from Matamoros (14.8%). The percentages of LRGV and Matamoros adolescents who were overweight were identical (16.9%). LRGV adolescent boys (OR = 0.87, 95% CI = 0.77-0.98) who participated in team sports were less likely to be at or above the 85th percentile of BMI-for-age and sex. Although of borderline significance, Matamoros and LRGV adolescent boys who participated in physical education classes were less likely to be at risk of overweight. Neither in Matamoros nor LRGV students were any of the various physical activity categories or levels associated with being at risk of overweight or being overweight. Conclusions Nearly one-third of the students in both Matamoros and the LRGV are at risk of overweight and are overweight. Implementation of interventions on healthful dietary choices and participation in physical education classes and sports teams are essential for reducing the extremely high prevalence of overweight among students on both sides of the Texas/Mexico border. ABSTRACT. Spanish. Objetivo: Investigar si hay diferencias en las asociaciones entre la actividad física y el sobrepeso observadas en estudiantes de dos zonas colindantes en la frontera mexicanoestadounidense: estudiantes de la ciudad de Matamoros, México, y estudiantes mexicanoestadounidenses del valle a lo largo de la desembocadura del Río Bravo (VRB) en la parte sur del estado de Texas. Dada la consabida prevalencia extremadamente alta de sobrepeso en adolescentes mexicanoestadounidenses, los autores queríamos determinar si el sobrepeso también se ha convertido en un problema entre adolescentes mexicanos. Métodos: Estudiantes de 6 escuelas (n = 653), que comprenden 11% de los estudiantes de noveno grado en Matamoros durante 2002–2003, y estudiantes de 13 bachilleratos (n = 4 736), que comprenden 22% de los estudiantes de noveno grado del VRB durante 2000–2001, contestaron cuestionarios. Se llevó a cabo una regresión logística politómica a fin de calcular el riesgo de estar en riesgo de tener sobrepeso (≥85.° percentil a <95.° percentil de índice de masa corporal (IMC) para la edad y el sexo) y el riesgo de tener sobrepeso (≥95.° percentil de índice de masa corporal (IMC) para la edad y el sexo), frente a un peso normal, que se asociaban con distintos grados de actividad física. En aras de la sencillez, en la clasificación del peso normal también se abarcó la insuficiencia de peso. Resultados: Un mayor porcentaje de adolescentes estaban en riesgo de sufrir sobrepeso en el VRB (17%) que en Matamoros (15%). Los porcentajes de adolescentes de VRB y de Matamoros que tenían sobrepeso fueron idénticos (17%). Los varones adolescentes en el VRB (razón de posibilidades [RP] = 0,87; IC95% = 0,77 a 0,98) que participaron en deportes en equipo tuvieron una menor probabilidad de estar en riesgo de tener sobrepeso. No se encontraron asociaciones entre ningunas de las demás categorías de actividad física por un lado, y estar en riesgo de sufrir sobrepeso o tener sobrepeso por el otro, ni en estudiantes de Matamoros ni en los del VRB. Conclusiones: Casi una tercera parte de los estudiantes tanto en Matamoros como en el VRB está en riesgo de tener sobrepeso o tiene sobrepeso. La puesta en práctica de intervenciones para fomentar hábitos alimentarios sanos y la participación en clases de educación física y en deportes en equipo es una medida esencial para reducir la prevalencia extremadamente alta de sobrepeso observada en estudiantes a ambos lados de la frontera entre México y Estados Unidos. PMID:16723065

[Cambios en la salud sexual de los pacientes obesos tras cirugía bariátrica].

PubMed

Pomares-Callejón, María A; Ferrer-Márquez, Manuel; Solvas-Salmerón, María J

2018-01-01

Los objetivos del estudio fueron: 1) evaluar la salud sexual en pacientes con obesidad grave/mórbida candidatos a cirugía bariátrica; y 2) valorar la evolución de la salud sexual tras 12 meses de la cirugía. Estudio descriptivo, prospectivo desde febrero de 2011 hasta junio de 2014. Se valoró la actividad sexual en los hombres a través del cuestionario EVAS-H y la función sexual en la mujer a través de la escala FSM (44 pacientes). Durante el estudio basal en los hombres, un 21% de la muestra presentó disfunción sexual en diferentes dimensiones, mientras que un 43% presentó problemas de eyaculación precoz. Tras 12 meses de la intervención, se observó un incremento de la actividad sexual global (p = 0.026). En torno al 70-89% de las mujeres, previamente a la cirugía, no presentaban trastorno. En la evolución no se observaron cambios medios relevantes (p > 0.05). Los pacientes con obesidad grave/mórbida candidatos a cirugía bariátrica presentan alteraciones considerables en diversas dimensiones de la salud sexual. Después de 12 meses de seguimiento, la salud sexual parece mejorar en los hombres. The aims of the study were: 1) to assess sexual health patients severe/morbid obesity patients candidates for bariatric surgery; and 2) to assess sexual health evolution after 12 months of surgery. Descriptive, prospective study from February 2011 to June 2014. Sexual activity in men was valued through EVAS-H questionnaire and through FSM scale on women (44 patients). During the basal study in men, a 21% of the sample showed sexual disfunction in different dimensions, while a 43% showed problems with premature ejaculation. 12 months after surgery, global sexual activity was improved significantly (p = 0,026). Approximately 70-89% of women presented no disturbance before surgery. No average relevant changes were observed within the evolution (p > 0.05). Morbid/severe obesity patients candidates to bariatric surgery, show considerable alterations on diverse sexual health dimensions. After 12 months following bariatric surgery, men’s sexual health appears to improve. Copyright: © 2018 SecretarÍa de Salud.

Curvas de fusión de regiones genómicas específicas: una herramienta prometedora para el diagnóstico y tipificación de las especies causantes de la leishmaniasis cutánea en Colombia.

PubMed

Marin, Johana; Urrea, Daniel; Muskus, Carlos; Echeverry, María Clara; Mejía, Ana María; Triana, Omar

2017-12-01

Introducción. La leishmaniasis cutánea es una enfermedad causada por parásitos del género Leishmania que tiene gran incidencia en Colombia. El diagnóstico y la identificación de la especie infecciosa son factores críticos en el momento de escoger e iniciar el tratamiento. Actualmente, los métodos de diagnóstico y tipificación requieren procedimientos complejos, por lo que es necesario validar nuevos marcadores moleculares y métodos que simplifiquen el proceso.Objetivo. Desarrollar una herramienta basada en la reacción en cadena de la polimerasa (PCR) con curvas de fusión (High Resolution Melting; PCR-HRM) para el diagnóstico y tipificación de las tres especies de Leishmania de importancia epidemiológica en casos de leishmaniasis cutánea en Colombia.Materiales y métodos. Los genomas de Leishmania panamensis, L. braziliensis y L. guyanensis se compararon mediante métodos bioinformáticos. Las regiones específicas de especie identificadas se validaron mediante PCR. Para los marcadores seleccionados se diseñó una PCR-HRM y se estimaron algunos parámetros de validez y seguridad usando aislamientos de pacientes colombianos caracterizados previamente mediante PCR y análisis de polimorfismos en la longitud de los fragmentos de restricción (Restriction Fragment Length Polymorphism - RFLP; PCR-RFLP) del gen hsp70.Resultados. El análisis genómico comparativo mostró 24 regiones específicas de especie. Sin embargo, la validación mediante PCR solo identificó un marcador específico para cada especie de Leishmania. Los otros marcadores mostraron amplificación cruzada. El límite de detección para los tres marcadores seleccionados fue de un parásito, mientras que la sensibilidad, la especificidad, el valor predictivo positivo y el negativo fueron de 91,4, 100, 100 y 75 %, respectivamente.Conclusiones. Las tres regiones seleccionadas pueden emplearse como marcadores moleculares en el diagnóstico y tipificación de las especies causantes de la leishmaniasis cutánea en Colombia.

Prediction uncertainty of plume characteristics derived from a small number of measuring points

NASA Astrophysics Data System (ADS)

French, H. K.; van der Zee, S. E. A. T. M.; Leijnse, A.

A small number of measuring points may inflict a bias on the characterisation of flow and transport based on field experiments in the unsaturated zone. Simulation of pure advective transport of a Gaussian plume through a setup of 30 regularly placed measuring points revealed regular temporal fluctuations about the real spatial moments. An irregular setup predicted both irregular fluctuations and larger discrepancies from the real value. From these considerations, a regular setup is recommended. Spatial moments were sensitive to the plume size relative to the distance between individual measuring points. To reduce prediction errors of the variance, the distance between the measuring points should be less than twice the standard deviation of the examined plume. The total size of the setup should cover several standard deviations of the plume to avoid mass being lost from the monitored area. Numerical simulations of a dispersing plume (comparing calculations based on 9000 nodes with 30 measuring points) revealed that vertical and horizontal centres of mass were predicted well at all degrees of heterogeneity, and the same was the case for horizontal variances. Vertical variances were more susceptible to prediction errors, but estimates were of the same order of magnitude as the real values. Résumé Lorsque l'on cherche à caractériser l'écoulement et le transport à partir d'expériences de terrain dans la zone saturée, il arrive qu'un petit nombre de points introduisent un biais. La simulation d'un transport purement advectif d'un panache gaussien au travers d'un ensemble de 30 points de mesures espacés régulièrement fait apparaître des variations temporelles régulières autour des moments spatiaux réels. Un ensemble irrégulier conduit à prédire à la fois des variations irrégulières et de plus grandes divergences par rapport à la valeur réelle. A partir de ces constations, un ensemble régulier est recommandé. Les moments spatiaux sont apparus sensibles à la dimension du panache en fonction de la distance entre les différents points de mesure. Afin de réduire les erreurs de prédiction de la variance, la distance entre les points de mesure doit être inférieure au double de l'écart-type du panache examiné. La dimension totale de l'ensemble doit couvrir une étendue de plusieurs écarts-types du panache pour éviter qu'une partie de la matière échappe à la zone surveillée. Des simulations numériques du panache en dispersion (les calculs de comparaison sont basés sur 9000 nœuds avec 30 points de mesure) montrent que le centre vertical et le centre horizontal de la matière dispersée ont été bien prédits à tous les degrés d'hétérogénéité, de même que pour les variances horizontales. Les variances verticales ont été plus sensibles aux erreurs de prédiction, mais les estimations étaient du même ordre de grandeur que les valeurs réelles. Resumen Un número pequeño de puntos de medida puede producir un sesgo en la caracterización en campo del flujo y transporte de solutos en la zona no saturada. La simulación de transporte advectivo (no difusivo) de un penacho Gaussiano a travs de un conjunto de 30 puntos de medida regularmente distribuidos revelan fluctuaciones temporales regulares de los momentos espaciales del penacho. Una distribución irregular de puntos de medida predijo a su vez fluctuaciones irregulares, más alejadas de la realidad, por lo que se recomienda el uso de esquemas de muestreo regulares. Los momentos espaciales fueron sensibles a la relación entre tamaño del penacho y distancia entre puntos de medida. Para reducir los errores en la predicción de la varianza, la distancia entre puntos de observación debe ser menor que dos veces la desviación estándar del penacho. El tamaño del área muestreada debe cubrir varias desviaciones estándar del penacho para evitar perder parte de la masa. Las simulaciones numricas en un penacho dispersivo, comparando los cálculos basados en 9000 nudos con las 30 medidas, mostraron que las posiciones de los centros de masa y las varianzas en dirección horizontal se predijeron bien independientemente del grado de heterogeneidad. Las varianzas verticales, sin embargo, fueron más susceptibles a errores de predicción, pero las estimaciones eran del mismo orden de magnitud que los valores reales.

High-Throughput Screening Assay for Laccase Engineering toward Lignosulfonate Valorization

PubMed Central

Rodríguez-Escribano, David; de Salas, Felipe; Camarero, Susana

2017-01-01

Lignin valorization is a pending issue for the integrated conversion of lignocellulose in consumer goods. Lignosulfonates (LS) are the main technical lignins commercialized today. However, their molecular weight should be enlarged to meet application requirements as additives or dispersing agents. Oxidation of lignosulfonates with fungal oxidoreductases, such as laccases, can increase the molecular weight of lignosulfonates by the cross-linking of lignin phenols. To advance in this direction, we describe here the development of a high-throughput screening (HTS) assay for the directed evolution of laccases, with lignosulfonate as substrate and the Folin–Ciocalteau reagent (FCR), to detect the decrease in phenolic content produced upon polymerization of lignosulfonate by the enzyme. Once the reaction conditions were adjusted to the 96-well-plate format, the enzyme for validating the assay was selected from a battery of high-redox-potential laccase variants functionally expressed in S. cerevisiae (the preferred host for the directed evolution of fungal oxidoreductases). The colorimetric response (absorbance at 760 nm) correlated with laccase activity secreted by the yeast. The HTS assay was reproducible (coefficient of variation (CV) = 15%) and sensitive enough to detect subtle differences in activity among yeast clones expressing a laccase mutant library obtained by error-prone PCR (epPCR). The method is therefore feasible for screening thousands of clones during the precise engineering of laccases toward valorization of lignosulfonates. PMID:28820431

Project VALOR: design and methods of a longitudinal registry of post-traumatic stress disorder (PTSD) in combat-exposed veterans in the Afghanistan and Iraqi military theaters of operations.

PubMed

Rosen, Raymond C; Marx, Brian P; Maserejian, Nancy N; Holowka, Darren W; Gates, Margaret A; Sleeper, Lynn A; Vasterling, Jennifer J; Kang, Han K; Keane, Terence M

2012-03-01

Few studies have investigated the natural history of post-traumatic stress disorder (PTSD). Project VALOR (Veterans' After-discharge Longitudinal Registry) was designed as a longitudinal patient registry assessing the course of combat-related PTSD among 1600 male and female Veterans who served in Operation Enduring Freedom (OEF) in Afghanistan or Operation Iraqi Freedom (OIF). Aims of the study include investigating patterns and predictors of progression or remission of PTSD and treatment utilization. The study design was based on recommendations from the Agency for Healthcare Quality and Research for longitudinal disease registries and used a pre-specified theoretical model to select the measurement domains for data collection and interpretation of forthcoming results. The registry will include 1200 male and female Veterans with a recent diagnosis of PTSD in the Department of Veteran Affairs (VA) electronic medical record and a comparison group of 400 Veterans without a medical record-based PTSD diagnosis, to also allow for case-control analyses. Data are collected from administrative databases, electronic medical records, a self-administered questionnaire, and a semi-structured diagnostic telephone interview. Project VALOR is a unique and timely registry study that will evaluate the clinical course of PTSD, psychosocial correlates, and health outcomes in a carefully selected cohort of returning OEF/OIF Veterans. Copyright © 2011 John Wiley & Sons, Ltd.

High-Throughput Screening Assay for Laccase Engineering toward Lignosulfonate Valorization

DOE Office of Scientific and Technical Information (OSTI.GOV)

Rodriguez-Escribano, David; de Salas, Felipe; Pardo, Isabel

Lignin valorization is a pending issue for the integrated conversion of lignocellulose in consumer goods. Lignosulfonates (LS) are the main technical lignins commercialized today. However, their molecular weight should be enlarged to meet application requirements as additives or dispersing agents. Oxidation of lignosulfonates with fungal oxidoreductases, such as laccases, can increase the molecular weight of lignosulfonates by the cross-linking of lignin phenols. To advance in this direction, we describe here the development of a high-throughput screening (HTS) assay for the directed evolution of laccases, with lignosulfonate as substrate and the Folin-Ciocalteau reagent (FCR), to detect the decrease in phenolic contentmore » produced upon polymerization of lignosulfonate by the enzyme. Once the reaction conditions were adjusted to the 96-well-plate format, the enzyme for validating the assay was selected from a battery of high-redox-potential laccase variants functionally expressed in S. cerevisiae (the preferred host for the directed evolution of fungal oxidoreductases). The colorimetric response (absorbance at 760 nm) correlated with laccase activity secreted by the yeast. The HTS assay was reproducible (coefficient of variation (CV) = 15%) and sensitive enough to detect subtle differences in activity among yeast clones expressing a laccase mutant library obtained by error-prone PCR (epPCR). As a result, the method is therefore feasible for screening thousands of clones during the precise engineering of laccases toward valorization of lignosulfonates.« less

High-Throughput Screening Assay for Laccase Engineering toward Lignosulfonate Valorization

DOE PAGES

Rodriguez-Escribano, David; de Salas, Felipe; Pardo, Isabel; ...

2017-08-18

Lignin valorization is a pending issue for the integrated conversion of lignocellulose in consumer goods. Lignosulfonates (LS) are the main technical lignins commercialized today. However, their molecular weight should be enlarged to meet application requirements as additives or dispersing agents. Oxidation of lignosulfonates with fungal oxidoreductases, such as laccases, can increase the molecular weight of lignosulfonates by the cross-linking of lignin phenols. To advance in this direction, we describe here the development of a high-throughput screening (HTS) assay for the directed evolution of laccases, with lignosulfonate as substrate and the Folin-Ciocalteau reagent (FCR), to detect the decrease in phenolic contentmore » produced upon polymerization of lignosulfonate by the enzyme. Once the reaction conditions were adjusted to the 96-well-plate format, the enzyme for validating the assay was selected from a battery of high-redox-potential laccase variants functionally expressed in S. cerevisiae (the preferred host for the directed evolution of fungal oxidoreductases). The colorimetric response (absorbance at 760 nm) correlated with laccase activity secreted by the yeast. The HTS assay was reproducible (coefficient of variation (CV) = 15%) and sensitive enough to detect subtle differences in activity among yeast clones expressing a laccase mutant library obtained by error-prone PCR (epPCR). As a result, the method is therefore feasible for screening thousands of clones during the precise engineering of laccases toward valorization of lignosulfonates.« less

Chlorine-36 and the initial value problem

NASA Astrophysics Data System (ADS)

Davis, Stanley N.; Cecil, DeWayne; Zreda, Marek; Sharma, Pankaj

Chlorine-36 is a radionuclide with a half-life of 3.01×105a. Most 36Cl in the hydrosphere originates from cosmic radiation interacting with atmospheric gases. Large amounts were also produced by testing thermonuclear devices during 1952-58. Because the monovalent anion, chloride, is the most common form of chlorine found in the hydrosphere and because it is extremely mobile in aqueous systems, analyses of both total Cl- as well as 36Cl have been important in numerous hydrologic studies. In almost all applications of 36Cl, a knowledge of the initial, or pre-anthropogenic, levels of 36Cl is useful, as well as essential in some cases. Standard approaches to the determination of initial values have been to: (a) calculate the theoretical cosmogenic production and fallout, which varies according to latitude; (b) measure 36Cl in present-day precipitation and assume that anthropogenic components can be neglected; (c) assume that shallow groundwater retains a record of the initial concentration; (d) extract 36Cl from vertical depth profiles in desert soils; (e) recover 36Cl from cores of glacial ice; and (f) calculate subsurface production of 36Cl for water that has been isolated from the atmosphere for more than one million years. The initial value from soil profiles and ice cores is taken as the value that occurs directly below the depth of the easily defined bomb peak. All six methods have serious weaknesses. Complicating factors include 36Cl concentrations not related to cosmogenic sources, changes in cosmogenic production with time, mixed sources of chloride in groundwater, melting and refreezing of water in glaciers, and seasonal groundwater recharge that does not contain average year-long concentrations of 36Cl. Résumé Le chlore-36 est un radionucléide de période 3.01×105a. Pour l'essentiel, le 36Cl dans l'hydrosphère provient des effets du rayonnement cosmique sur les gaz atmosphériques. De grandes quantités de 36Cl ont aussi été produites au cours des essais thermonucléaires entre 1952 et 1958. Du fait que l'anion chlorure est la forme la plus courante de chlore rencontrée dans l'hydrosphère et parce qu'il est extrêmement mobile en solution aqueuse, les analyses à la fois de Cl- total et de 36Cl ont montré leur intérêt dans de nombreuses études hydrologiques. Dans presque toutes les applications du 36Cl, une connaissance des teneurs initiales, ou "pré-anthropogéniques", en 36Cl est utile, sinon même nécessaire dans certains cas. Les approches classiques pour déterminer les teneurs initiales ont été: (a) le calcul de la production cosmique théorique et la retombée, variable en fonction de la latitude; (b) la mesure de 36Cl dans les précipitations actuelles et l'hypothèse que les composantes anthropogéniques peuvent être négligées (c) l'hypothèse que l'eau souterraine peu profonde est marquée par la concentration initiale; (d) l'extraction de 36Cl d'un profil vertical dans des sols de régions désertiques (e) l'extraction de 36Cl de carottes de glace; et (f) le calcul de la production souterraine de 36Cl pour de l'eau qui a été isolée de l'atmosphère pendant plus d'un million d'années. La valeur initiale tirée des profils de sol et de glace est prise comme la valeur qui apparaît immédiatement au-dessous du pic facilement identifiable des essais thermonucléaires. Ces six méthodes présentent toutes des défauts majeurs. Des facteurs de complication concernent des teneurs en 36Cl indépendantes de la production cosmique, des changements dans la production cosmique au cours du temps, des mélanges de chlorures d'origines différentes dans l'eau souterraine, la fonte et le regel de l'eau des glaciers, la recharge saisonnière des nappes dont la teneur en 36Cl est différente de la moyenne annuelle. Resumen El Cloro-36 es un radionúclido con una vida media de 3.01×105 años. La mayoría del 36Cl en la hidrosfera se origina por la interacción de la radiación cósmica con los gases atmosféricos. También se produjeron grandes cantidades en las pruebas termonucleares que tuvieron lugar entre 1952-58. Al tratarse de un anión monovalente, el cloruro es la forma más común en que se presenta el cloro en la hidrosfera, y al ser extremadamente móvil en sistemas acuosos, los análisis tanto de Cl- total como de 36Cl han tenido gran importancia en muchos estudios hidrológicos. En la mayoría de aplicaciones del 36Cl, el conocimiento de los niveles iniciales (pre-antropogénicos) de 36Cl es esencial. Los métodos tradicionales para la determinación de los valores iniciales han sido: (a) calcular la producción cosmogénica teórica y su aporte a la superficie de la Tierra, que varía en función de la latitud; (b) medir el 36Cl en las precipitaciones actuales, asumiendo que las contribuciones antropogénicas son despreciables; (c) asumir que las aguas subterráneas más superficiales mantienen la concentración inicial; (d) extraer los contenidos de 36Cl en perfiles verticales profundos en suelos desérticos (e) realizar la misma operación en muestras de hielo glaciar; y (f) calcular la producción subsuperficial de 36Cl para un agua que lleva sin contacto con la atmósfera durante más de un millón de años. El valor inicial de los perfiles de suelo y de las muestras de hielo se toma como el valor que se presenta directamente por debajo del punto que marca el pico producido por las bombas, y que es fácilmente identificable. Los seis métodos tienen sus puntos débiles. Entre los factores que complican la interpretación se incluyen las concentraciones de 36Cl no relacionadas con fuentes cosmogénicas, las variaciones temporales en la producción cosmogénica, la mezcla de fuentes de cloruro en las aguas subterráneas, el deshielo y recongelación del agua en los glaciares, y la recarga estacional que contiene concentraciones de 36Cl que no se corresponden con el promedio anual.

Geostatistical mapping of leakance in a regional aquitard, Oak Ridges Moraine area, Ontario, Canada

NASA Astrophysics Data System (ADS)

Desbarats, A. J.; Hinton, M. J.; Logan, C. E.; Sharpe, D. R.

2001-01-01

The Newmarket Till forms a regionally extensive aquitard separating two major aquifer systems in the Greater Toronto area, Canada. The till is incised, and sometimes eroded entirely, by a network of sand- and gravel-filled channels forming productive aquifers and, locally, high-conductivity windows between aquifer systems. Leakage through the till may also be substantial in places. This study investigates the spatial variability of aquitard leakance in order to assess the relative importance of recharge processes to the lower aquifers. With a large database derived from water-well records and containing both hard and soft information, the Sequential Indicator Simulation method is used to generate maps of aquitard thickness and window probability. These can be used for targeting channel aquifers and for identifying potential areas of recharge to the lower aquifers. Conductivities are modeled from sparse data assuming that their correlation range is much smaller than the grid spacing. Block-scale leakances are obtained by upscaling nodal values based on simulated conductivity and thickness fields. Under the "aquifer-flow'' assumption, upscaling is performed by arithmetic spatial averaging. Histograms and maps of upscaled leakances show that heterogeneities associated with aquitard windows have the largest effect on regional groundwater flow patterns. Résumé. La moraine glaciaire de Newmarket constitue un imperméable d'extension régionale séparant deux systèmes aquifères dans la région du Grand Toronto (Canada). La moraine est entaillée, et parfois entièrement érodée, par un réseau de chenaux comblés de sables et de graviers formant des aquifères productifs et, localement, des «fenêtres», zones à forte conductivité hydraulique reliant les systèmes aquifères. Une drainance au travers de la moraine peut également être significative par endroits. Cette étude s'intéresse à la variabilité spatiale de la drainance au travers de l'imperméable, dans le but d'évaluer l'importance relative des processus d'alimentation des aquifères inférieurs. À partir d'une vaste base de données constituée par les mesures faites dans les puits et contenant des informations à la fois certaines et incertaines, la méthode de simulation par indicateur séquentiel est utilisée pour créer des cartes d'épaisseur de l'imperméable et de probabilité d'existence des fenêtres. Ces cartes peuvent être utilisées pour mettre en évidence les aquifères de chenaux et pour identifier les zones potentielles de recharge des aquifères inférieurs. Les conductivités hydrauliques sont modélisées à partir de données clairsemées en supposant que leur gamme de corrélation est beaucoup plus faible que le pas de la grille. La drainance à l'échelle des blocs est obtenue par accroissement du niveau d'échelle des valeurs nodales basé sur les champs de conductivité simulée et des épaisseurs. À partir de l'hypothèse d'écoulement dans l'aquifère, l'accroissement d'échelle est réalisé en faisant une moyenne arithmétique spatiale. Des histogrammes et des cartes de drainance avec accroissement d'échelle montrent que les hétérogénéités associées aux fenêtres dans l'imperméable constituent l'effet le plus important dans l'organisation des écoulements souterrains régionaux. Resumen. El Till de Newmarket forma un acuitardo de extensión regional que separa dos sistemas acuíferos principales en la zona de Greater Toronto (Canadá). El till está horadado, y a veces completamente erosionado, por una red de canales rellenos de arena y grava. Estos constituyen acuíferos productivos y, localmente, conexiones de alta permeabilidad entre sistemas acuíferos. El goteo a través del till puede ser fundamental en ciertos lugares. Este estudio investiga la variabilidad espacial del goteo desde el acuitardo con el fin de establecer la importancia relativa de los procesos de recarga hacia los acuíferos inferiores. Se ha utilizado el método de la Simulación Indicadora Secuencial, soportado por una gran base de datos que contiene registros de sondeos e incluye información blanda y dura, para generar mapas de espesor del acuitardo y mapas de probabilidad de discontinuidades laterales en el acuitardo. Estos resultados se pueden emplear para identificar canales y las zonas de recarga potencial a los acuíferos inferiores. Se han modelado las conductividades a partir de datos dispersos, suponiendo que la distancia de correlación es mucho menor que el espaciado de la malla. Se han calculado valores de goteo a escala de bloque por medio del escalado de los valores nodales, basándose en los campos simulados de conductividad y espesor. El escalado se calcula mediante un promedio aritmético espacial, bajo la hipótesis de "flujo en el acuífero". Los histogramas y mapas de goteos escalados muestran que las heterogeneidades asociadas a las discontinuidades en el acuitardo producen el efecto más notable en la distribución regional del flujo de aguas subterráneas.

An Estimate of the Tidal Effects in the Dynamics of the Binary Galaxies

NASA Astrophysics Data System (ADS)

Junqueira, S.; de Freitas Pacheco, J. A.

1990-11-01

RESUMEN. Se ha estimado los efectos de marea en los pares dinamicos de galaxias elipticas. Para poder estudiar tales efectos hernos expandido el potencial gravitacional en potencias del cociente plr hasta en el orden 3 correspondientes a las fuerzas de marea. Hemos examina- do la influencia de este termino en el movimiento orbital. Se encon- tr6 el valor de M/LB = 10+7 (en unidades solares) para un ejemplo de 46 pares E-E usando Ia aproximaci6n de marea. De este resultado, no podemos concluir que existen alrededor de las galaxias halos grandes y obscuros. Hemos encontrado tambien que la suposici6n de masas puntuales es una buena aproximaci6n para el sistema fisico. Sin embargo, tal aproximaci6n sobreestima ligeramente el cociente masa-lurninosidad. ABSTRACT. In the present work we have estimated the tidal effects in the dynamics of pairs of elliptical galaxies. In order to study such effects we have expanded the gravitational potential in power of the ratio p/r up to order 3 corresponding to tidal forces. We examined the influence of this term in the orbital motion. The value of M/LB =lOi7 (in solar units) was found for a sample of 46 E-E pairs using the tidal approximation. From this result, we cannot conclude that large dark haloes exist around galaxies. We have also found that the assump- tion of point masses is a good approximation for the physical system. However, such an approximation overestimates slightly the mass-luminosity ratio. Keq wo't : GALAXIES-DYNAMICS

Impacts | Bioenergy | NREL

Science.gov Websites

Conversion NREL Overcomes Obstacles in Lignin Valorization Novel Combination of Enzyme Systems Could Lower Cellulosic Ethanol Can Be Cost Competitive Reducing Enzyme Costs Increases the Market Potential of Biofuels

Bacterial dye-decolorizing peroxidases: biochemical ...

EPA Pesticide Factsheets

In biorefineries, processing biomass begins with separating lignin from cellulose and hemicellulose. The latter two are depolymerized to give monosaccharides (e.g. glucose and xylose), which can be converted to fuels or chemicals. In contrast, lignin presents a challenging target for further processing due to its inherent heterogeneity and recalcitrance. Therefore, it has only been used in low-value applications. For example, lignin is burnt to recover energy in cellulosic ethanol production. Valorization of lignin is critical for biorefineries as it may generate high revenue. Lignin is the obvious candidate to provide renewable aromatic chemicals. As long as it can be depolymerized, the phenylpropane units can be converted into useful phenolic chemicals, which are currently derived from fossil fuels. This is a survey of an emerging group of enzymes that may have applications in lignin valorization.

Capnography as a tool to detect metabolic changes in patients cared for in the emergency setting.

PubMed

Cereceda-Sánchez, Francisco José; Molina-Mula, Jesús

2017-05-15

to evaluate the usefulness of capnography for the detection of metabolic changes in spontaneous breathing patients, in the emergency and intensive care settings. in-depth and structured bibliographical search in the databases EBSCOhost, Virtual Health Library, PubMed, Cochrane Library, among others, identifying studies that assessed the relationship between capnography values and the variables involved in blood acid-base balance. 19 studies were found, two were reviews and 17 were observational studies. In nine studies, capnography values were correlated with carbon dioxide (CO2), eight with bicarbonate (HCO3), three with lactate, and four with blood pH. most studies have found a good correlation between capnography values and blood biomarkers, suggesting the usefulness of this parameter to detect patients at risk of severe metabolic change, in a fast, economical and accurate way. avaliar a utilidade da capnografia para a detecção de alterações metabólicas em pacientes com respiração espontânea, no contexto das emergências e dos cuidados intensivos. pesquisa bibliográfica estruturada aprofundada, nas bases de dados EBSCOhost, Biblioteca Virtual em Saúde, PubMed, Cochrane Library, entre outras, identificando estudos que avaliavam a relação entre os valores da capnografia e as variáveis envolvidas no equilíbrio ácido-base sanguíneo. foram levantados 19 estudos, dois eram revisões e 17 eram estudos observacionais. Em nove estudos, os valores capnográficos foram correlacionados com o dióxido de carbono (CO2), em oito com o bicarbonato (HCO3), em três com o lactato, e em quatro com o pH sanguíneo. na maioria dos estudos foi observada uma correlação adequada entre os valores capnográficos e os biomarcadores sanguíneos, sugerindo a utilidade deste parâmetro para a identificação de pacientes com risco de sofrer uma alteração metabólica grave, de uma forma rápida, econômica e precisa. explorar la utilidad de la capnografía para la detección de alteraciones metabólicas ante pacientes en respiración espontánea, en el ámbito de las emergencias y los cuidados críticos. búsqueda bibliográfica estructurada en profundidad, en bases de datos EBSCOhost, Biblioteca Virtual de la Salud, PubMed, Cochrane Library, entre otras, identificando estudios que evaluaban la relación entre valores de la capnografía y variables implicadas en el equilibrio ácido-base sanguíneo. se recopilaron 19 estudios, dos eran revisiones y 17 observacionales. En nueve estudios, se correlacionaron los valores capnográficos junto al dióxido de carbono (CO2), en ocho con el bicarbonato (HCO3), tres con el lactato, y cuatro con el pH sanguíneo. la mayoría de estudios han obtenido una correlación adecuada entre los valores capnográficos y biomarcadores sanguíneos, sugiriendo la utilidad de este parámetro para la detección de pacientes en riesgo de padecer una alteración metabólica grave, de forma rápida, económica y precisa.

Molecular Characteristics of Hb New York [β113(G15)Val→Glu, HBB: c.341T>A] in Thailand.

PubMed

Chaibunruang, Attawut; Singha, Kritsada; Srivorakun, Hataichanok; Fucharoen, Goonnapa; Fucharoen, Supan

2018-01-01

Hb New York or Hb Kaohsiung [β113(G15)Val→Glu (GTG>GAG), HBB: c.341T>A] has been considered a rare β hemoglobin (Hb) variant found originally in an Iranian woman and later in diverse populations but its genetic origin has not been elucidated. Here we report molecular and hematological descriptions of this variant found in the Thai population. Among 5643 subjects referred for hemoglobinopathy investigation during January 2015 to September 2017, 183 (3.2%) were found to carry several Hb variants, including β chain variants (n = 135, 2.4%), α chain variants (n = 33, 0.6%), Hb Lepore-Hollandia (NG_000007.3: g.63290_70702del) and Hb Lepore-Boston-Washington (NG_000007.3: g.63632_71046del) (δβ hybrid Hb) (n = 12, 0.2%) and δ chain variants (n = 3, 0.05%). Of patients with β chain variants, six with normal high performance liquid chromatography (HPLC) patterns, had an abnormal Hb in zone 11 of capillary electrophoresis (CE), the amounts of which ranged from 29.6-45.4% with normal levels of Hb A 2 and Hb F. DNA analysis identified a heterozygous Hb New York mutation in all cases. Further screening of α-thalassemia (α-thal) identified coinheritance of α + - and α 0 -thal in two of them who had reduced levels of Hb New York. Haplotype analysis suggested that the Thai Hb New York was likely associated with a single β-globin haplotype [+ - - - - + +], indicating that it was of the same origin. Hematological findings and simple DNA assay based on allele-specific polymerase chain reaction (PCR) for rapid detection of Hb New York are presented.

PubMed

Prieto Bohórquez, Signed Esperanza; Rodríguez Velásquez, Javier Oswaldo; Correa Herrera, Catalina; Pardo Oviedo, Juan Mauricio; Ardila, Javier

2018-03-23

Introducción: una ley exponencial se ha hallado para los sistemas dinámicos caóticos cardiacos, logrando cuantificar las diferencias entre dinámicas cardiacas normales y  patológicas.Metodología: Se analizaron 120 registros electrocardiográficos, 40 correspondían a sujetos dentro de los límites de normalidad y 80 con diferentes patologías. Para cada holter se analizaron los atractores generados con los datos durante 18 horas y durante toda la dinámica. Se calculó la dimensión fractal del atractor y su ocupación espacial. A estas medidas se aplicó la evaluación matemática diagnostica desarrollada previamente, comparando la evaluación para 18 horas y para todo el registro; finalmente se calculó la sensibilidad, especificidad y coeficiente Kappa.Resultados: Para las dinámicas normales los espacios de ocupación en la rejilla Kp estuvieron entre 200 y 381 en la evaluación de la totalidad del holter, y entre 201 y 384 en la evaluación durante 18 horas, mostrando la cercanía en las medidas, lo que permite que la disminución en el tiempo de la evaluación sea consistente, esta misma cercanía se observó para las dinámicas enfermas y agudas.Conclusión: Se evidenció la aplicabilidad clínica en 18 horas de la ley exponencial en la dinámica cardiaca caótica asociada a arritmias mostrando ser de utilidad para la predicción de la evolución hacia estados agudos de la dinámica.

Evaluation of family history of permanent hearing loss in childhood as a risk indicator in universal screening.

PubMed

Valido Quintana, Mercedes; Oviedo Santos, Ángeles; Borkoski Barreiro, Silvia; Santana Rodríguez, Alfredo; Ramos Macías, Ángel

Sixty percent of prelingual hearing loss is of genetic origin. A family history of permanent childhood hearing loss is a risk factor. The objective of the study is to determine the relationship between this risk factor and hearing loss. We have evaluated clinical and epidemiological characteristics and related nonsyndromic genetic variation. This was a retrospective, descriptive and observational study of newborns between January 2007 and December 2010 with family history as risk factor for hearing loss using transient evoked otoacoustic emissions and auditory brainstem response. A total of 26,717 children were born. Eight hundred and fifty-seven (3.2%) had family history. Fifty-seven(0.21%) failed to pass the second test. A percentage of 29.1 (n=16) had another risk factor, and 17.8% (n=9) had no classical risk factor. No risk factor was related to the hearing loss except heart disease. Seventy-six point four percent had normal hearing and 23.6% hearing loss. The mean of family members with hearing loss was 1.25. On genetic testing, 82.86% of homozygotes was normal, 11.43% heterozygosity in Connexin 26 gene (35delG), 2.86% R143W heterozygosity in the same gene and 2.86% mutant homozygotes (35delG). We found no relationship between hearing loss and mutated allele. The percentage of children with a family history and hearing loss is higher than expected in the general population. The genetic profile requires updating to clarify the relationship between hearing loss and heart disease, family history and the low prevalence in the mutations analyzed. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss.

PubMed

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.

Bruton tyrosine kinase inhibition in chronic lymphocytic leukemia.

PubMed

Maddocks, Kami; Jones, Jeffrey A

2016-04-01

Chronic lymphocytic leukemia (CLL) is the most common adult leukemia and remains incurable outside of the setting of allogeneic stem cell transplant. While the standard therapy for both initial and relapsed CLL has traditionally included monoclonal antibody therapy in combination with chemotherapy, there are patients with high-risk disease features including unmutated IgVH, del(11q22) and del(17p13) that are associated with poor overall responses to these therapies with short time to relapse and shortened overall survival. Additionally, many of these therapies have a high rate of infectious toxicity in a population already at increased risk. Targeting the B-cell receptor (BCR) signaling pathway has emerged as a promising therapeutic advance in a variety of B-cell malignancies, including CLL. Bruton agammaglobulinemia tyrosine kinase (Btk) is a tyrosine kinase in the BCR pathway critical to the survival of both normal and malignant B cells and inhibition of this kinase has shown to block the progression of CLL. Ibrutinib, a first in class oral inhibitor of Btk, has shown promise as a very effective agent in the treatment of CLL-in both relapsed and upfront therapy, alone and in combination with other therapies, and in patients of all-risk disease-which has led to its approval in relapsed CLL and as frontline therapy in patients with the high-risk del(17p13) disease. Several studies are ongoing to evaluate the efficacy and safety of ibrutinib in combination with chemotherapy as frontline treatment for CLL and investigation into newer-generation Btk inhibitors is also underway. Copyright © 2016 Elsevier Inc. All rights reserved.

Geochemical and stable isotopic evolution of the Guarani Aquifer System in the state of São Paulo, Brazil

NASA Astrophysics Data System (ADS)

Sracek, Ondra; Hirata, Ricardo

2002-09-01

The purpose of this report is to explain geochemical and stable isotopes trends in the Brazilian unit of the Guarani Aquifer System (Botucatu and Piramboia aquifers) in São Paulo State, Brazil. Trends of dissolved species concentrations and geochemical modeling indicated a significant role of cation exchange and dissolution of carbonates in downgradient evolution of groundwater chemistry. Loss of calcium by the exchange for sodium drives dissolution of carbonates and results in Na-HCO3 type of groundwater. The cation-exchange front moves downgradient at probably much slower rate compared to the velocity of groundwater flow and at present is located near to the cities of Sertãozinho and Águas de Santa Barbara (wells PZ-34 and PZ-148, respectively) in a shallow confined area, 50-70 km from the recharge zone. Part of the sodium probably enters the Guarani Aquifer System. together with chloride and sulfate from the underlying Piramboia Formation by diffusion related to the dissolution of evaporates like halite and gypsum. High concentrations of fluorine (up to 13.3 mg/L) can be explained by dissolution of mineral fluoride also driven by cation exchange. However, it is unclear if the dissolution takes place directly in the Guarani Aquifer System or in the overlying basaltic Serra Geral Formation. There is depletion in δ2H and δ18O values in groundwater downgradient. Values of δ13C(DIC) are enriched downgradient, indicating dissolution of calcite under closed system conditions. Values of δ13C(DIC) in deep geothermal wells are very high (>-6.0‰) and probably indicate isotopic exchange with carbonates with δ13C about -3.0‰. Future work should be based on evaluation of vertical fluxes and potential for penetration of contamination to the Guarani Aquifer System. Résumé. Cet article a pour objet d'expliquer l'évolution de la géochimie et des isotopes stables dans l'unité brésilienne du système aquifère du Guarani (aquifères de Botucatu et Piramboia), dans l'État de Sao Paulo (Brésil). L'évolution des concentrations des espèces dissoutes et la modélisation géochimique ont fait apparaître le rôle notable des échanges de cations et de la dissolution des carbonates de l'amont vers l'aval des nappes. La perte de calcium par échange de cation avec le sodium pilote la dissolution des carbonates et donne naissance à des eaux souterraines à faciès Na-HCO3. Le front d'échange de cation se déplace vers l'aval probablement plus lentement que la vitesse d'écoulement de l'eau souterraine et est actuellement situé à proximité des villes de Sertaozinho et de Aguas de Santa Barbara (respectivement puits PZ-34 et PZ-148), dans une zone captive proche de la surface, à 50-70 km de la zone de recharge. Une partie du sodium provient probablement du système aquifère du Guarani, associée aux chlorures et aux sulfates de la formation Piramboia sous-jacente, par diffusion liée à la dissolution d'évaporites comme la halite et le gypse. De fortes concentrations en fluorures (jusqu'à 13,3 mg/L) peuvent être expliquées par la dissolution d'un minéral fluoré également pilotée par l'échange de cations. Cependant, on ne sait pas bien si la dissolution intervient directement dans le système aquifère du Guarani ou dans la formation basaltique sus-jacente de Serra Geral. Les valeurs de δ2H et δ18O décroissent vers l'aval de la nappe. Les valeurs de δ13C du carbone minéral dissous sont enrichies vers l'aval, indiquant qu'il se produit une dissolution de calcite en système fermé. Les valeurs de δ13C du carbone minéral dissous dans les puits géothermaux profonds sont très élevées (supérieures à -6,0‰) et rendent probablement compte d'échanges isotopiques avec des carbonates possédant un δ13C d'environ -3,0‰. De prochaines études devront s'attacher à évaluer les flux verticaux et le potentiel de pénétration de contamination du système aquifère du Guarani. Resumen. El propósito de este informe es explicar las tendencias geoquímicas y de los isótopos estables en la unidad brasileña del Sistema Acuífero Guaraní (acuíferos de Botucatu y Piramboya), en el Estado de Sao Paulo. Las concentraciones de especies disueltas y los resultados de modelaciones geoquímicas indican que el intercambio catiónico y la disolución de carbonatos desempeñan un papel importante en la evolución aguas abajo del acuífero. La disminución de calcio por el intercambio con sodio origina la disolución de carbonatos, dando lugar a aguas subterráneas de tipo bicarbonatado sódico. El frente de intercambio catiónico se desplaza a una velocidad probablemente mucho más lenta que la del flujo de agua; actualmente, se halla cerca de las ciudades de Sertaozinho y Aguas de Santa Bárbara (pozos PZ-34 y PZ-148, respectivamente), en una zona confinada somera que dista entre 50 y 70 km del área de recarga. Parte del sodio entra probablemente en el Sistema Acuífero Guaraní junto con el cloruro y el sulfato procedentes de la Formación Piramboia inferior, debido a la difusión relacionada con la disolución de evaporitas como la halita y los yesos. Se puede explicar las elevadas concentraciones de flúor (hasta 13,3 mg/L) por la disolución de fluoruro mineral, que sucede también por intercambio catiónico. Sin embargo, no está claro si la disolución ocurre directamente en el Sistema Acuífero Guaraní o en la Formación basáltica superior de Serra Geral. Hay una reducción de δ2H y de δ18O a favor del gradiente hidráulico. Hay un enriquecimiento en δ13C inorgánico aguas abajo, lo que indica que la calcita se disuelve en condiciones de sistema cerrado. Los valores de δ13C inorgánico en pozos geotérmicos profundos son muy altos (mayores que -6,0‰), y probablemente apuntan a un intercambio isotópico con carbonatos de δ13C que tiene un valor del orden del -3,0‰. Las líneas de investigación deberían centrarse en evaluar los flujos verticales y el potencial de penetración de contaminantes en el Sistema Acuífero Guaraní.

PubMed

Fernández Alba, Juan Jesús; Paublete Herrera, María Del Carmen; González Macías, María Del Carmen; Carral San Laureano, Florentino; Carnicer Fuentes, Concepción; Vilar Sánchez, Ángel; Torrejón Cardoso, Rafael; Moreno Corral, Luis Javier

2016-11-29

Introducción: el sobrepeso y la obesidad se asocian a una mayor probabilidad de que el parto finalice en cesárea. Dado que dicho incremento del riesgo podría estar sesgado por variables de confusión como la diabetes o la hipertensión, en el presente trabajo pretendemos determinar si este riesgo persiste tras ser ajustado por numerosas variables de control.Objetivo: determinar si el sobrepeso y/o la obesidad son factores de riesgo independientes para que el parto finalice en cesárea.Métodos: estudio de cohortes retrospectivo. Se han incluido gestantes adscritas al Hospital Universitario de Puerto Real. Periodo de estudio: 2002-2011. Se incluyeron dos grupos de estudio: sobrepeso al inicio de la gestación (IMC entre 25 y 29,9) y obesidad al inicio de la gestación (IMC ≥ 30). Grupo ontrol: IMC al inicio de la gestación normal (entre 18,5 y 24,9). El riesgo de cesárea fue analizado mediante un estudio de regresión logística múltiple incluyendo como covariables: edad materna, parto inducido, diabetes gestacional, diabetes pregestacional, macrosomía, hipertensión arterial, nuliparidad, cesárea anterior, parto pretérmino y parto postérmino.Resultados: de los 18.243 partos registrados, el IMC al inicio de la gestación constaba en 4.711 casos (25,8%). El 26,1% presentaban sobrepeso, el 12,4% obesidad y el 58,9% IMC normal. Sin ajustar por variables control, se asociaron a un incremento del riesgo de cesárea: sobrepeso (OR 1,48; IC95% 1,27-1,73); obesidad grado 1 (OR 2,09; IC95% 1,66-2,64); obesidad grado 2 (OR 3,23; IC95% 2,31-4,53); obesidad grado 3 (OR 2,57; IC95% 1,56-4,22). El riesgo aumentado se mantuvo significativo en el análisis multivariante: sobrepeso (OR 1,51; IC95% 1,24-1,84); obesidad (OR 2,15; IC95% 1,67-2,76).Conclusiones: encontramos una asociación significativa e independiente entre el sobrepeso/obesidad maternos y la finalización del parto mediante cesárea incluso ajustando por numerosas variables de control como: edad materna, nuliparidad, cesárea anterior, hipertensión, diabetes, peso al nacer y edad gestacional al parto.

Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas.

PubMed

Ashwini, Akanksha; D'Angelo, Antonio; Yamato, Osamu; Giordano, Cristina; Cagnotti, Giulia; Harcourt-Brown, Tom; Mhlanga-Mutangadura, Tendai; Guo, Juyuan; Johnson, Gary S; Katz, Martin L

2016-08-01

The neuronal ceroid lipofuscinoses (NCLs) are hereditary neurodegenerative disorders characterized by progressive declines in neurological functions, seizures, and premature death. NCLs result from mutations in at least 13 different genes. Canine versions of the NCLs can serve as important models in developing effective therapeutic interventions for these diseases. NCLs have been described in a number of dog breeds, including Chihuahuas. Studies were undertaken to further characterize the pathology of Chihuahua NCL and to verify its molecular genetic basis. Four unrelated client owned Chihuahuas from Japan, Italy and England that exhibited progressive neurological signs consistent with a diagnosis of NCL underwent neurological examinations. Brain and in some cases also retinal and heart tissues were examined postmortem for the presence of lysosomal storage bodies characteristic of NCL. The affected dogs exhibited massive accumulation of autofluorescent lysosomal storage bodies in the brain, retina and heart accompanied by brain atrophy and retinal degeneration. The dogs were screened for known canine NCL mutations previously reported in a variety of dog breeds. All 4 dogs were homozygous for the MFSD8 single base pair deletion (MFSD8:c.843delT) previously associated with NCL in a Chinese Crested dog and in 2 affected littermate Chihuahuas from Scotland. The dogs were all homozygous for the normal alleles at the other genetic loci known to cause different forms of canine NCL. The MFSD8:c.843delT mutation was not present in 57 Chihuahuas that were either clinically normal or suffered from unrelated diseases or in 1761 unaffected dogs representing 186 other breeds. Based on these data it is almost certain that the MFSD8:c.843delT mutation is the cause of NCL in Chihuahuas. Because the disorder occurred in widely separated geographic locations or in unrelated dogs from the same country, it is likely that the mutant allele is widespread among Chihuahuas. Genetic testing for this mutation in other Chihuahuas is therefore likely to identify intact dogs with the mutant allele that could be used to establish a research colony that could be used to test potential therapeutic interventions for the corresponding human disease. Copyright © 2016 Shire Human Genetic Therapies. Published by Elsevier Inc. All rights reserved.

Implementing apportionment strategy to identify costs in a multidisciplinary clinic.

PubMed

Ferraz, Renato Ribeiro Nogueira; Neri, Anna Sofia Costa; Barbosa, Estela Capelas; Silva, Marcus Vinícius Cesso da

2017-01-01

To present the implementation of an apportionment strategy proportional to the productive areas of a multidisciplinary clinic, defining the minimum values to be passed monthly to health professionals who work there. A study of the clinic structure was carried out, in which the area of occupation of each service was defined. Later the cost was prorated, allocating a value to each room, proportional to the space occupied. The apportionment implementation allowed the clinic managers to visualize the cost of each room, providing a value base for formation of a minimum amount necessary to be passed monthly to each professional, as a form of payment for rent of using their facilities. The risk of financial loss of the clinic was minimized due to variation of its productivity, as well as the conditions of transference at the time of hiring by professionals were clear, promoting greater confidence and safety in contract relations. Apresentar a implantação de uma estratégia de rateio proporcional às áreas produtivas de uma clínica multidisciplinar, definindo valores mínimos a serem repassados mensalmente aos profissionais de saúde que as ocupam. Estudo da estrutura da clínica, no qual foi definida, em metros quadrados, a área de ocupação de cada serviço. Em seguida, o custo foi rateado, alocando um valor a cada sala, proporcional ao espaço ocupado. A implantação do rateio possibilitou aos gestores da clínica estudada visualizar o custo de cada sala, fornecendo uma base de valor para formação de um valor mínimo necessário a ser repassado mensalmente para cada profissional, como forma de pagamento pelo aluguel de utilização de suas instalações. Minimizou-se o risco de prejuízo da clínica pela variação de sua produtividade, bem como ficaram claras as condições de repasse no momento de contratação do aluguel pelos profissionais, promovendo maior confiança e segurança na relação contratual.

Lignolytic-consortium omics analyses reveal novel genomes and pathways involved in lignin modification and valorization.

PubMed

Moraes, Eduardo C; Alvarez, Thabata M; Persinoti, Gabriela F; Tomazetto, Geizecler; Brenelli, Livia B; Paixão, Douglas A A; Ematsu, Gabriela C; Aricetti, Juliana A; Caldana, Camila; Dixon, Neil; Bugg, Timothy D H; Squina, Fabio M

2018-01-01

Lignin is a heterogeneous polymer representing a renewable source of aromatic and phenolic bio-derived products for the chemical industry. However, the inherent structural complexity and recalcitrance of lignin makes its conversion into valuable chemicals a challenge. Natural microbial communities produce biocatalysts derived from a large number of microorganisms, including those considered unculturable, which operate synergistically to perform a variety of bioconversion processes. Thus, metagenomic approaches are a powerful tool to reveal novel optimized metabolic pathways for lignin conversion and valorization. The lignin-degrading consortium (LigMet) was obtained from a sugarcane plantation soil sample. The LigMet taxonomical analyses (based on 16S rRNA) indicated prevalence of Proteobacteria , Actinobacteria and Firmicutes members, including the Alcaligenaceae and Micrococcaceae families, which were enriched in the LigMet compared to sugarcane soil. Analysis of global DNA sequencing revealed around 240,000 gene models, and 65 draft bacterial genomes were predicted. Along with depicting several peroxidases, dye-decolorizing peroxidases, laccases, carbohydrate esterases, and lignocellulosic auxiliary (redox) activities, the major pathways related to aromatic degradation were identified, including benzoate (or methylbenzoate) degradation to catechol (or methylcatechol), catechol ortho-cleavage, catechol meta-cleavage, and phthalate degradation. A novel Paenarthrobacter strain harboring eight gene clusters related to aromatic degradation was isolated from LigMet and was able to grow on lignin as major carbon source. Furthermore, a recombinant pathway for vanillin production was designed based on novel gene sequences coding for a feruloyl-CoA synthetase and an enoyl-CoA hydratase/aldolase retrieved from the metagenomic data set. The enrichment protocol described in the present study was successful for a microbial consortium establishment towards the lignin and aromatic metabolism, providing pathways and enzyme sets for synthetic biology engineering approaches. This work represents a pioneering study on lignin conversion and valorization strategies based on metagenomics, revealing several novel lignin conversion enzymes, aromatic-degrading bacterial genomes, and a novel bacterial strain of potential biotechnological interest. The validation of a biosynthetic route for vanillin synthesis confirmed the applicability of the targeted metagenome discovery approach for lignin valorization strategies.

Neuroimagen en la enfermedad de Alzheimer: nuevas perspectivas

PubMed Central

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

Variation in NCB5OR

PubMed Central

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

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

PubMed Central

McLarren, Keith W.; Severson, Tesa M.; du Souich, Christèle; Stockton, David W.; Kratz, Lisa E.; Cunningham, David; Hendson, Glenda; Morin, Ryan D.; Wu, Diane; Paul, Jessica E.; An, Jianghong; Nelson, Tanya N.; Chou, Athena; DeBarber, Andrea E.; Merkens, Louise S.; Michaud, Jacques L.; Waters, Paula J.; Yin, Jingyi; McGillivray, Barbara; Demos, Michelle; Rouleau, Guy A.; Grzeschik, Karl-Heinz; Smith, Raffaella; Tarpey, Patrick S.; Shears, Debbie; Schwartz, Charles E.; Gecz, Jozef; Stratton, Michael R.; Arbour, Laura; Hurlburt, Jane; Van Allen, Margot I.; Herman, Gail E.; Zhao, Yongjun; Moore, Richard; Kelley, Richard I.; Jones, Steven J.M.; Steiner, Robert D.; Raymond, F. Lucy; Marra, Marco A.; Boerkoel, Cornelius F.

2010-01-01

CK syndrome (CKS) is an X-linked recessive intellectual disability syndrome characterized by dysmorphism, cortical brain malformations, and an asthenic build. Through an X chromosome single-nucleotide variant scan in the first reported family, we identified linkage to a 5 Mb region on Xq28. Sequencing of this region detected a segregating 3 bp deletion (c.696_698del [p.Lys232del]) in exon 7 of NAD(P) dependent steroid dehydrogenase-like (NSDHL), a gene that encodes an enzyme in the cholesterol biosynthesis pathway. We also found that males with intellectual disability in another reported family with an NSDHL mutation (c.1098 dup [p.Arg367SerfsX33]) have CKS. These two mutations, which alter protein folding, show temperature-sensitive protein stability and complementation in Erg26-deficient yeast. As described for the allelic disorder CHILD syndrome, cells and cerebrospinal fluid from CKS patients have increased methyl sterol levels. We hypothesize that methyl sterol accumulation, not only cholesterol deficiency, causes CKS, given that cerebrospinal fluid cholesterol, plasma cholesterol, and plasma 24S-hydroxycholesterol levels are normal in males with CKS. In summary, CKS expands the spectrum of cholesterol-related disorders and insight into the role of cholesterol in human development. PMID:21129721

Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III

DOE Office of Scientific and Technical Information (OSTI.GOV)

Takano, Takako; Yamanouchi, Yasuko; Mori, Yosuke

We report on a 12-month-old Japanese boy with an interstitial deletion of the long-arm of chromosome 1 and meningomyelocele, hydrocephalus, anal atresia, atrial septal defect, left renal agenesis, bilateral cryptorchidism, talipes equinovarus, low birth weight, growth/developmental retardation, and many minor anomalies. By conventional GTG-banding, his karyotype was first interpreted as 46,XY,de1(1)(q23q24), but it was corrected as 46,XY.ish del(1)(q24q25.3) by fluorescence in situ hybridization using 11 known cosmid clones as probes. His serum levels of apolipoprotein A-II (gene symbol: APOA2, previously assigned to 1q21-q23) and coagulation factor V (F5, 1q21-q25) were normal, while serum concentration and activity of antithrombin III (AT3,more » 1q23-q25.1) was low. The results indicated that localization of APOA2 and F5 are proximal to the deleted region and AT3 is located within the deletion extent in the patient. 16 refs., 4 figs.« less

Mutation of Dcdc2 in mice leads to impairments in auditory processing and memory ability.

PubMed

Truong, D T; Che, A; Rendall, A R; Szalkowski, C E; LoTurco, J J; Galaburda, A M; Holly Fitch, R

2014-11-01

Dyslexia is a complex neurodevelopmental disorder characterized by impaired reading ability despite normal intellect, and is associated with specific difficulties in phonological and rapid auditory processing (RAP), visual attention and working memory. Genetic variants in Doublecortin domain-containing protein 2 (DCDC2) have been associated with dyslexia, impairments in phonological processing and in short-term/working memory. The purpose of this study was to determine whether sensory and behavioral impairments can result directly from mutation of the Dcdc2 gene in mice. Several behavioral tasks, including a modified pre-pulse inhibition paradigm (to examine auditory processing), a 4/8 radial arm maze (to assess/dissociate working vs. reference memory) and rotarod (to examine sensorimotor ability and motor learning), were used to assess the effects of Dcdc2 mutation. Behavioral results revealed deficits in RAP, working memory and reference memory in Dcdc2(del2/del2) mice when compared with matched wild types. Current findings parallel clinical research linking genetic variants of DCDC2 with specific impairments of phonological processing and memory ability. © 2014 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

An association study between CHEK2 gene mutations and susceptibility to breast cancer.

PubMed

Jalilvand, Manizheh; Oloomi, Mana; Najafipour, Reza; Alizadeh, Safar Ali; Saki, Najmaldin; Rad, Fatemeh Samiee; Shekari, Mohammad

2017-01-01

CHEK2 gene is known as a tumor suppressor gene in breast cancer (BC), which plays a role in DNA repair. The germ line mutations in CEHK2 have been associated with different types of cancer. The present study was aimed at studying the association between CHEK2 mutations and BC. Peripheral blood was collected from patients into a test tube containing EDTA, and DNA was extracted from blood samples. Then, we analyzed mutations including 1100delc, IVS2+1>A, del5395bp, and I157T within CHEK2 gene in patients with BC and 100 normal healthy controls according to PCR-RFLP, allelic specific PCR, and multiplex-PCR. Although IVS2+1G>A mutation within CHEK2 gene was found in two BC patients, other defined mutants were not detected. For the first time, we identified CHEK2 IVS2+1G>A mutation, one out of four different CHEK2 alterations in two Iranian BC patients (2%). Also, our results showed that CHEK2 1100elC, del5395bp, and I157T mutations are not associated with genetic susceptibility for BC among Iranian population.

Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.

PubMed

Ma, Xiang; Li, Xiaoxin; Wang, Lihua

2008-01-01

To investigate various XLRS1 (RS1) gene mutations in Chinese families with X-linked juvenile retinoschisis (XLRS or RS). Genomic DNA was isolated from leukocytes of 29 male patients with X-linked juvenile retinoschisis, 38 female carriers, and 100 normal controls. All 6 exons of the RS1 gene were amplified by polymerase chain reaction, and the RS1 gene mutations were determined by direct sequencing. Eleven different RS1 mutations in 12 families were identified in the 29 male patients. The mutations comprised eight missense, two frameshift, and one splice donor site mutation. Four of these mutations, one frameshift mutation (26 del T) in exon 1, one frameshift mutation (488 del G) in exon 5, Asp145His and Arg156Gly in exon 5, have not been previously described. One novel non-disease-related polymorphism, 576C to T (Pro192Pro) in exon 6, was also found. Six recurrent mutations, Ser73Pro and Arg102Gln mutations in exon 4 and Arg200Cys, Arg209His, Arg213Gln, and Cys223Arg mutations in exon 6, were also identified in this study. RS1 gene mutations caused X-linked juvenile retinoschisis in these Chinese families.

With simple gasoline stripping devices, a problem of gas transportation by pipeline is resolved (in Spanish)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Couto, J.A.

1975-06-01

Liquid hydrocarbons contained in Argentina's Pico Truncade natural gas caused a number of serious pipeline transmission and gas processing problems. Gas del Estado has installed a series of efficient liquid removal devices at the producing fields. A flow chart of the gasoline stripping process is illustrated, as are 2 types of heat exchangers. This process of gasoline stripping (gas condensate recovery) integrates various operations which normally are performed independently: separation of the poor condensate in the gas, stabilization of the same, and incorporation of the light components (products of the stabilization) in the main gas flow.

Persistence of chromosomal abnormalities additional to the Philadelphia chromosome after Philadelphia chromosome disappearance during imatinib therapy for chronic myeloid leukemia.

PubMed

Zaccaria, Alfonso; Valenti, Anna Maria; Donti, Emilio; Gozzetti, Alessandro; Ronconi, Sonia; Spedicato, Francesco

2007-04-01

Five Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) patients with additional chromosome abnormalities at diagnosis have been followed during Imatinib therapy. In all, the Ph chromosome disappeared, while the 5 cases, additional abnormalities [dup(1); del(5), +8 (2 patients) and +14] persisted in the subsequent studies, performed over a period of 11 to 49 months, either alone or together with a karyotypically normal cell population. This finding is consistent with a secondary origin of the Ph chromosome in these patients. It is still to early to evaluate the possible prognostic value of these additional abnormalities.

Study on the Classification of the Uranium Mineral of Venta de Cardena; ESTUDIO SOBRE LA CLASIFICACION DEL MINERAL DE VENTA DE CARDENA

DOE Office of Scientific and Technical Information (OSTI.GOV)

Otero, A.R.

1959-01-01

The behavior of uranium mineral from Venta de Cardena in a spiral classifier which operates in a closed system with a ball mill was studied to obtain data for the design of a milling-classification system with a production capacity of 200 tons per day with a particle size less than 0.417 mm. The characteristics of such a system, the problems in normal operation, the inconveriences which these cause, and their solution were investigated. Correlations between these tests and the results obtained with long glass tubes are presented. (J.S.R.)

Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome

PubMed Central

Adams, Madeleine; Jenney, Meriel; Lazarou, Laz; White, Rhian; Birdsall, Sanda; Staab, Timo; Schindler, Detlev; Meyer, Stefan

2014-01-01

Bloom syndrome (BS) is an inherited genomic instability disorder caused by disruption of the BLM helicase and confers an extreme cancer predisposition. Here we report on a girl with BS who developed acute lymphoblastic leukaemia (ALL) at age nine, and treatment-related acute myeloid leukaemia (t-AML) aged 12. She was compound heterozygous for the novel BLM frameshift deletion c.1624delG and the previously described c.3415C>T nonsense mutation. Two haematological malignancies in a child with BS imply a fundamental role for BLM for normal haematopoiesis, in particular in the presence of genotoxic stress. PMID:24932421

National Dam Inspection Program. Ingham Creek (Aquetong Lake) Dam (NDI ID PA 00224, PA DER 9-49) Delaware River Basin, Ingham Creek, Pennsylvania. Phase I Inspection Report,

DTIC Science & Technology

1981-04-01

Delaware River Basing Ingham Justif icaticn--- L Creek, Pennsylvania. Phase I Inspection Do DEL-AWARE RIVER BASIN Availabilit T Co~es Avail and/or D...about 1.5H:IV and an unknown upstream slope below the water surface. The dam impounds a reservoir with a normal pool surface area of 12.4 acres and a...deep. It was once used to direct water to a mill downstream of the dam and is now in poor condition. The spillway Design Flood (SDF) chosen for this

Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation.

PubMed

Hagebeuk, Eveline E O; Marcelis, Carlo L; Alders, Mariëlle; Kaspers, Ageeth; de Weerd, Al W

2015-10-01

This is the second report of a family with a recurrence of a CDKL5 mutation (c. 283-3_290del) in 2 sisters. Both parents tested negative for the mutation in all tissues, but germline mosaicism is likely. Clinically CDKL5 patients resemble those with Rett syndrome, caused by a MECP2 mutation, who experience a regression, after an initial normal development. Even though both siblings showed a typical CDKL5 phenotype, their presentation is different. From birth, the oldest daughter had a severe developmental delay, feeding problems, and hypotonia and experienced daily refractory seizures. The youngest daughter appeared to be normal until age 3 months. At that age seizures started, deterioration and regression became evident, and an epileptic encephalopathy developed. This report of familial recurrence, with suspected germline mosaicism in a healthy parent, has important consequences for genetic counseling. Although it is not possible to predict an exact recurrence risk, it is likely to be increased. © The Author(s) 2015.

Separation of Lignin from Corn Stover Hydrolysate with Quantitative Recovery of Ionic Liquid

PubMed Central

Underkofler, Kaylee A.; Teixeira, Rodrigo E.; Pietsch, Stephen A.; Knapp, Kurtis G.; Raines, Ronald T.

2015-01-01

Abundant lignocellulosic biomass could become a source of sugars and lignin, potential feedstocks for the now emergent bio-renewable economy. The production and conversion of sugars from biomass have been well-studied, but far less is known about the production of lignin that is amenable to valorization. Here we report the isolation of lignin generated from the hydrolysis of biomass dissolved in the ionic liquid 1-butyl-3-methylimidazolium chloride. We show that lignin can be isolated from the hydrolysate slurry by simple filtration or centrifugation, and that the ionic liquid can be recovered quantitatively by a straightforward wash with water. The isolated lignin is not only free from ionic liquid, but also lacks cellulosic residues and is substantially depolymerized, making it a promising feedstock for valorization by conversion into fuels and chemicals. PMID:25866701

Valorization of glycerol through the production of biopolymers: the PHB case using Bacillus megaterium.

PubMed

Naranjo, Javier M; Posada, John A; Higuita, Juan C; Cardona, Carlos A

2013-04-01

In this work technical and economic analyses were performed to evaluate the glycerol transformation into Polyhydroxybutyrate using Bacillus megaterium. The production of PHB was compared using glycerol or glucose as substrates and similar yields were obtained. The total production costs for PHB generation with both substrates were estimated at an industrial scale. Compared to glucose, glycerol showed a 10% and 20% decrease in the PHB production costs using two different separation schemes respectively. Moreover, a 20% profit margin in the PHB sales price using glycerol as substrate resulted in a 166% valorization of crude glycerol. In this work, the feasibility of glycerol as feedstock for the production of PHB at laboratory (up to 60% PHB accumulation) and industrial (2.6US$/kgPHB) scales is demonstrated. Copyright © 2013 Elsevier Ltd. All rights reserved.

Solid state fermentation (SSF): diversity of applications to valorize waste and biomass.

PubMed

Lizardi-Jiménez, M A; Hernández-Martínez, R

2017-05-01

Solid state fermentation is currently used in a range of applications including classical applications, such as enzyme or antibiotic production, recently developed products, such as bioactive compounds and organic acids, new trends regarding bioethanol and biodiesel as sources of alternative energy, and biosurfactant molecules with environmental purposes of valorising unexploited biomass. This work summarizes the diversity of applications of solid state fermentation to valorize biomass regarding alternative energy and environmental purposes. The success of applying solid state fermentation to a specific process is affected by the nature of specific microorganisms and substrates. An exhaustive number of microorganisms able to grow in a solid matrix are presented, including fungus such as Aspergillus or Penicillum for antibiotics, Rhizopus for bioactive compounds, Mortierella for biodiesel to bacteria, Bacillus for biosurfactant production, or yeast for bioethanol.

Innovative approach for the valorization of useful metals from waste electric and electronic equipment (WEEE)

NASA Astrophysics Data System (ADS)

Soare, V.; Burada, M.; Dumitrescu, D. V.; Constantin, I.; Soare, V.; Popescu, A.-M. J.; Carcea, I.

2016-08-01

Waste electric and electronic equipment are an important secondary source of rare and precious metals and their processing through ecological technologies constitutes a major concern in the European Union and significantly contributes to the reduction of environmental pollution and to the preservation of valuable resources of nonferrous metals. The paper presents an innovative approach for the complex valorization of useful metals contained in WEEE. The method consists in the melting of WEEE in a furnace in a microwave field at temperatures of 1000 ÷1200°C, for the complete separation of the metallic fraction from the organic components. The gases resulting from the melting process were also treated/neutralized in a microwave environment and the obtained metallic bulk (multi-component alloy) was processed through combined hydrometallurgical and electrochemical methods. The major elements in the metallic bulk (Cu, Sn, Zn, Pb) were separated/recovered by anodic dissolution, respectively by leaching in nitric acid followed by cementation using various agents, or by electrodeposition. Depending on the electrochemical parameters, cathodic deposits consisting of Cu, with a purity higher than 99.9%, or of Cu-Sn and Cu-Sn-Zn alloys were obtained. Silver was valorized by leaching/precipitation with NaCl and the gold concentrated in the anodic slime will be recovered by thiourea extraction. The experiments performed demonstrate the possibility of ecological and efficient processing of WEEE in a microwave field and the recovery of nonferrous and precious metals through combined hydrometallurgical and electrochemical methods.

A proposed new framework for valorization of geoheritage in Norway

NASA Astrophysics Data System (ADS)

Dahl, Rolv; Bergengren, Anna; Heldal, Tom

2015-04-01

The geological history of Norway is a complex one, . The exploitation of geological resources of different kinds has always provided the backbone of the Norwegian community. Nevertheless, the perception of geology and the geological processes that created the landscape is little appreciated, compared to bio-diversity and cultural heritage. Some geological localities play an important role in our perception and scientific understanding of the landscape. Other localities are, or could be, important tourist destinations. Other localities can in turn be important for geoscience education on all levels, whereas other plays a major role in the understanding of geodiversity and geoheritage and should be protected as natural monuments. A database based on old registrations has been compiled and a web mapping server is recently launched based on old and new registrations. However, no systematical classification and identification of important sites has been done for the last thirty years. We are now calling for a crowdsourcing process in the geological community in order to validate and valorize the registrations, as well as defining new points and areas of interest. Furthermore, we are developing a valorization system for these localities. The framework for this system is based on studies from inventories in other countries, as well as suggestions from ProGeo. The aim is to raise awareness of important sites, and how they are treated and utilized for scientific, or educational purposes, as tourist destinations or heritage sites. Our presentation will focus on the development of the framework and its implications.

The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.

PubMed

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.

Structural differences between alcoholic and diabetic parotid sialosis.

PubMed

Carda, Carmen; Carranza, Miriam; Arriaga, Adriana; Díaz, Anselmo; Peydró, Amando; Gomez de Ferraris, Maria Elsa

2005-01-01

Between the sialosis' etiologic agents, we can find the chronic alcoholism and diabetes. Both nosologic entities are described using a similar histopathologic pattern. The purpose of this work has been analyzing and comparing the histopathological differences between the diabetic and alcoholic sialosis. We studied 7 parotid glands samples of diabetic patients and 4 samples of normal glands obtained from surgical material were used as a control. For the comparative study, we used 12 parotid glands from chronic alcoholic patients with clinical diagnosis of cirrhosis and 6 autopsies on individuals who had died from alcoholic hepatic cirrhosis. This material was fixed in formaline, processed for embedding in paraffin, standard coloration techniques and immunotechnique for cytokeratin EA/1 y EA/3. In the cases of diabetics, the parotid gland was characterised by the presence of small acini, a bigger number of lipid intracytoplasmic droplets in the acinar and ductal cells, as well as an abundant adipose infiltration in the stroma when compared to the alcoholics. We observed that the cytokeratins' expression was heterogeneous at the acinar level, and very positive in the hyperplasic ducts, compared to the alcoholic and control groups. These qualitative valorations indicate the differences between the histopathologic pattern of sialosis with different origins.

Oenocarpus bacaba and Oenocarpus bataua Leaflets and Roots: A New Source of Antioxidant Compounds

PubMed Central

Leba, Louis-Jérôme; Brunschwig, Christel; Saout, Mona; Martial, Karine; Bereau, Didier; Robinson, Jean-Charles

2016-01-01

Native palm trees fruit from the Amazonian rainforest, Oenocarpus bacaba and Oenocarpus bataua, are very often used in the diet of local communities, but the biological activities of their roots and leaflets remain poorly known. Total phenolic content (TPC) and antioxidant activity of root and leaflet extracts from Oenocarpus bacaba and Oenocarpus bataua were assessed by using different chemical assays, the oxygèn radical absorbance capacity (ORAC), the 2,2-diphenyl-l-picrylhydrazyl (DPPH) free radical-scavenging capacity and the ferric-reducing ability of plasma (FRAP). Cellular antioxidant activity and cytotoxicity were also measured in Normal Human Dermal Fibroblasts. The polyphenolic composition of Oenocarpus extracts was investigated by LC-MSn. Oenocarpus leaflet extracts were more antioxidant than root extracts, being at least as potent as Euterpe oleracea berries known as superfruit. Oenocarpus root extracts were characterized by hydroxycinnamic acids (caffeoylquinic and caffeoylshikimic acids), while leaflet extracts contained mainly caffeoylquinic acids and C-glycosyl flavones. These results suggest that leaflets of both Oenocarpus species could be valorized as a new non-cytotoxic source of antioxidants from Amazonia, containing hydroxycinnamic acids and flavonoids, in the pharmaceutical, cosmetic or agri-food industry. PMID:27355943

[Glucose transponer type 1 deficiency síndrome (GLUT-1 SD) treated with ketogenic diet. Report of one case].

PubMed

Cornejo, Verónica E; Cabello, Juan Francisco A; Colombo, Marta C; Raimann, Erna B

2007-05-01

The glucose transporter type 1 deficiency syndrome (GLUT-1 SD) (OMIM 606777) is an inborn error of metabolism of brain glucose transport. The characteristic clinical manifestations are seizures, hypotonia, developmental delay, microcephaly and hypoglycorrhachia. We report a girl with normal weight and height at birth. At 6 weeks of age she started with convulsions reaching up to 20 myoclonic seizures a day. She was treated with valproate, phenobarbital and carbamazepine without response. Blood analysis including aminoacids and acylcarnitines were all normal. The brain MRI showed frontal atrophy with an increased subarachnoidal space and Electroencephalography was abnormal. Blood glucose was 84 mg/dl and spinal fluid glucose 26 mg/dl with a ratio of 0.31 (Normal Ratio >0.65+/-00.1). These results suggested the diagnosis of GLUT-1 SD, and was confirmed with erythrocyte glucose uptake of 44% (Normal range 80-100%). A molecular study found the mutation 969del, C971T in exon 6 of the gene Glut-1. Treatment with a ketogenic diet was started immediately and after 7 days with this diet seizures ceased. Anticonvulsants were progressively suspended. At present, the patient is 6 years old, she continues on a ketogenic diet and supplements with L-carnitine, lipoic acid, vitamins and minerals. Growth and development are normal with an intelligence quotient of 103. It is concluded that it is necessary to include GLUT-1 SD in the differential diagnosis of children with early seizures that are non responsive to pharmacological treatment.

Tribosystems based on multilayered micro/nanocrystalline CVD diamond coatings =

NASA Astrophysics Data System (ADS)

Shabani, Mohammadmehdi

A combinacao das caracteristicas do diamante microcristalino (MCD) e nanocristalino (NCD), tais como elevada adesao do MCD e a baixa rugosidade superficial e baixo coeficiente de atrito do NCD, e ideal para aplicacoes tribologicas exigentes. Deste modo, o presente trabalho centrou-se no desenvolvimento de revestimentos em multicamada MCD/NCD. Filmes com dez camadas foram depositados em amostras de cerâmicos de Si3N4 pela tecnica de deposicao quimica em fase vapor assistida por filamento quente (HFCVD). A microestrutura, qualidade do diamante e adesao foram investigadas usando tecnicas como SEM, AFM, espectroscopia Raman, DRX, indentacao Brale e perfilometria otica 3D. Diversas geometrias para aplicacoes distintas foram revestidas: discos e esferas para testes tribologicos a escala laboratorial, e para testes em servico, aneis de empanques mecânicos e pastilhas de corte para torneamento. Nos ensaios tribologicos esfera-sobre-plano em movimento reciproco, sob 10-90% de humidade relativa (RH), os valores medios dos coeficientes de atrito maximo e em estado estacionario sao de 0,32 e 0,09, respetivamente. Em relacao aos coeficientes de desgaste, observou-se um valor minimo de cerca de 5,2x10-8 mm3N-1m-1 para valores intermedios de 20-25% de RH. A humidade relativa tem um forte efeito sobre o valor da carga critica que triplica a partir de 40 N a 10% RH para 120 N a 90% de RH. No intervalo de temperaturas 50-100 °C, as cargas criticas sao semelhantes as obtidas em condicoes de baixa RH ( 10-25%). A vida util das ferramentas com revestimento de dez camadas alternadas MCD/NCD e 24 mum de espessura total no torneamento de um composito de matriz metalica Al- 15 vol% Al2O3 (Al-MMC) e melhor do que a maioria das ferramentas de diamante CVD encontradas na literatura, e semelhante a maioria das ferramentas de diamante policristalino (PCD). A formacao de cratera ocorre por desgaste sucessivo das varias camadas, atrasando a delaminacao total do revestimento de diamante do substrato, ao contrario do que acontece com os revestimentos monocamada. Os aneis de empanque testados com biodiesel apresentaram coeficientes de desgaste (4,1x10-10 mm3N-1m-1) duas ordens de grandeza menores do que em ensaios esfera-sobre-plano em movimento reciproco (k = 5,0x10-8 mm3N-1m-1), mas nao foi possivel obter vedacao completa devido a sobreaquecimento do fluido. Esta condicao foi obtida com agua sob pressao, para condicoes P.V na gama 0,72-5,3 MPa.ms-1. Um coeficiente de atrito em estado estacionario de 0,04 e um valor de coeficiente de desgaste de 6,0x10-10 mm3N-1m-1, caracteristico de um regime desgaste ultra-suave, revelam o alto desempenho deste tribossistema.

Cultural adaptation and the Clavien-Dindo surgical complications classification translated to Brazilian Portuguese.

PubMed

Moreira, Luis Fernando; Pessôa, Marcelo Castro Marçal; Mattana, Diego Sachet; Schmitz, Fernando Fernandes; Volkweis, Bernardo Silveira; Antoniazzi, Jorge Luiz; Ribeiro, Liacyr

2016-01-01

to generate a translated and validated version of the Clavien-Dindo Classification of Surgical Complications (CDC) to Brazilian Portuguese (CDC-BR). the process of translation and adaptation followed the guideline of Beaton et al., 2000. We divided 76 participating surgeons, in different levels of experience, from the Department Surgery of the Hospital de Clínicas de Porto Alegre, into two groups: Group I applied the original version (CDC, n=36);r Group II used the modified version (CDC-BR, n=40). Each group classified 15 clinical cases of surgical complications. We compared performance between the groups (Mann-Whitney test) relating to the level of experience of the surgeon (Kruskal-Wallis test), considering p value <0.05 as significant. the performance of the Group II (CDC-BR) was higher, with 85% accuracy, compared with 79% of Group I (CDC), p-value =0.012. The performance of the groups as for surgeons experience displayed p=0.171 for Group I, p=0.528 for Group II, and p=0.135 for overall performance. we produced a translated and validated version of the CDC for Brazilian Portuguese. The instrument will be a useful tool in the production of evidence on surgical outcomes. gerar uma versão traduzida e validada da Classificação de Complicações Cirúrgicas de Clavien-Dindo (CCD) para o Português-Brasileiro (CCD-BR). o processo de tradução e adaptação seguiu a diretriz de Beaton et al., de 2000. Formaram-se dois grupos, Grupo I, que utilizou a versão original (CCD, n=36) testado em relação ao Grupo II, com a versão modificada (CCD-BR, n=40), com um total de 76 cirurgiões participantes em níveis de experiência distintos do Departamento de Cirurgia do Hospital de Clínicas de Porto Alegre. Quinze casos clínicos de complicações cirúrgicas foram classificados em cada grupo. Comparou-se o desempenho entre grupos (teste de Mann-Whitney) relacionando ao nível de experiência dos cirurgiões (teste de Kruskal-Wallis). Valor de p<0,05 como significativo. o desempenho do Grupo II (CCD-BR) foi superior, com 85% de acertos, contra 79% do Grupo I (CCD), p-valor=0,012 do teste de Mann-Whitney. O desempenho dos grupos em relação à experiência dos cirurgiões foi p-valor=0,171 para o Grupo I, p-valor=0,528 para o Grupo II, e p-valor=0,135 para o desempenho geral, teste de Kruskal-Wallis. foi produzida uma versão traduzida e validada da CCD para o Português-Brasileiro. O instrumento produzido será ferramenta útil na produção de evidências sobre os resultados cirúrgicos.

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

PubMed Central

Beetz, Christian; Pieber, Thomas R.; Hertel, Nicole; Schabhüttl, Maria; Fischer, Carina; Trajanoski, Slave; Graf, Elisabeth; Keiner, Silke; Kurth, Ingo; Wieland, Thomas; Varga, Rita-Eva; Timmerman, Vincent; Reilly, Mary M.; Strom, Tim M.; Auer-Grumbach, Michaela

2012-01-01

The distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of neurodegenerative disorders affecting the lower motoneuron. In a family with both autosomal-dominant dHMN and dHMN type V (dHMN/dHMN-V) present in three generations, we excluded mutations in all genes known to be associated with a dHMN phenotype through Sanger sequencing and defined three potential loci through linkage analysis. Whole-exome sequencing of two affected individuals revealed a single candidate variant within the linking regions, i.e., a splice-site alteration in REEP1 (c.304-2A>G). A minigene assay confirmed complete loss of splice-acceptor functionality and skipping of the in-frame exon 5. The resulting mRNA is predicted to be expressed at normal levels and to encode an internally shortened protein (p.102_139del). Loss-of-function REEP1 mutations have previously been identified in dominant hereditary spastic paraplegia (HSP), a disease associated with upper-motoneuron pathology. Consistent with our clinical-genetic data, we show that REEP1 is strongly expressed in the lower motoneurons as well. Upon exogeneous overexpression in cell lines we observe a subcellular localization defect for p.102_139del that differs from that observed for the known HSP-associated missense mutation c.59C>A (p.Ala20Glu). Moreover, we show that p.102_139del, but not p.Ala20Glu, recruits atlastin-1, i.e., one of the REEP1 binding partners, to the altered sites of localization. These data corroborate the loss-of-function nature of REEP1 mutations in HSP and suggest that a different mechanism applies in REEP1-associated dHMN. PMID:22703882

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

PubMed

Corbett, Mark A; Bellows, Susannah T; Li, Melody; Carroll, Renée; Micallef, Silvana; Carvill, Gemma L; Myers, Candace T; Howell, Katherine B; Maljevic, Snezana; Lerche, Holger; Gazina, Elena V; Mefford, Heather C; Bahlo, Melanie; Berkovic, Samuel F; Petrou, Steven; Scheffer, Ingrid E; Gecz, Jozef

2016-11-08

To identify the genetic basis of a family segregating episodic ataxia, infantile seizures, and heterogeneous epilepsies and to study the phenotypic spectrum of KCNA2 mutations. A family with 7 affected individuals over 3 generations underwent detailed phenotyping. Whole genome sequencing was performed on a mildly affected grandmother and her grandson with epileptic encephalopathy (EE). Segregating variants were filtered and prioritized based on functional annotations. The effects of the mutation on channel function were analyzed in vitro by voltage clamp assay and in silico by molecular modeling. KCNA2 was sequenced in 35 probands with heterogeneous phenotypes. The 7 family members had episodic ataxia (5), self-limited infantile seizures (5), evolving to genetic generalized epilepsy (4), focal seizures (2), and EE (1). They had a segregating novel mutation in the shaker type voltage-gated potassium channel KCNA2 (CCDS_827.1: c.765_773del; p.255_257del). A rare missense SCN2A (rs200884216) variant was also found in 2 affected siblings and their unaffected mother. The p.255_257del mutation caused dominant negative loss of channel function. Molecular modeling predicted repositioning of critical arginine residues in the voltage-sensing domain. KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln) in a girl with EE, ataxia, and tremor. A KCNA2 mutation caused dominantly inherited episodic ataxia, mild infantile-onset seizures, and later generalized and focal epilepsies in the setting of normal intellect. This observation expands the KCNA2 phenotypic spectrum from EE often associated with chronic ataxia, reflecting the marked variation in severity observed in many ion channel disorders. © 2016 American Academy of Neurology.

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...

Correlation of the level of full-length CFTR transcript with pulmonary phenotype in patients carrying R117H and 1342-1,-2delAG mutations

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hamosh, A.; Cutting, G.R.; Oates, R.

The R117H mutation occurs on two chromosome backgrounds, one associated with a 7 thymidine tract (7T-R11H) in the splice-acceptor site of intron 8, the other with a 5 thymidine tract (5T-R117H). We examined exon 9 splicing efficiency in 5 patients of genotype R117H/{delta}F508 and one carrying 1342-1,-2delAG{delta}F508, an obligate exon 9 slice site mutation. Four patients carried R117H on a 7T background -- three adult men with congenital bilateral absence of the vas deferens and one adolescent female with pancreatitis and borderline sweat chloride concentration. The patient with R117H on a 5T background had pancreatic sufficient CF (PS-CF). The 1342-1,-2delAGmore » patient has classic pancreatic insufficient CF (PI-CF). cDNA was synthesized from total RNA extracted from nasal epithlial cells and analyzed for CFTR splicing by 35 cycle PCR using primers in exon 7 and 11. The quantity of full length transcript derived from the R117H or {delta}F508 alleles was assessed by allele-specific oligonucleotide hybridization. While 91.4% of transcript from the 5T-R117H allele was full-length, only 42.2% of CFTR transcript from the 5T-R117H allele was full length. Since CBAVD patients have no lung disease and PS-CF patients do, this indicates that the threshold of developing CF lung disease is crossed when the amount of CFTR transcript bearing R117H is reduced by half. Interestingly, 17.1% of transcript derived from the 1342-1,-2delAG allele (or 8.6% of total CFTR transcript) was normal and full length. This suggests that up to 9% of full length wild-type CFTR transcript may be inadequate to escape the lung disease of CF and that a 9 thymidine tract followed by AAC (the result of the AG deletion) can be used as a splice donor with 2-9% efficiency.« less

Detection of epidermal growth factor receptor mutation in lung cancer by droplet digital polymerase chain reaction

PubMed Central

Xu, Qing; Zhu, Yazhen; Bai, Yali; Wei, Xiumin; Zheng, Xirun; Mao, Mao; Zheng, Guangjuan

2015-01-01

Background Two types of epidermal growth factor receptor (EGFR) mutations in exon 19 and exon 21 (ex19del and L858R) are prevalent in lung cancer patients and sensitive to targeted EGFR inhibition. A resistance mutation in exon 20 (T790M) has been found to accompany drug treatment when patients relapse. These three mutations are valuable companion diagnostic biomarkers for guiding personalized treatment. Quantitative polymerase chain reaction (qPCR)-based methods have been widely used in the clinic by physicians to guide treatment decisions. The aim of this study was to evaluate the technical and clinical sensitivity and specificity of the droplet digital polymerase chain reaction (ddPCR) method in detecting the three EGFR mutations in patients with lung cancer. Methods Genomic DNA from H1975 and PC-9 cells, as well as 92 normal human blood specimens, was used to determine the technical sensitivity and specificity of the ddPCR assays. Genomic DNA of formalin-fixed, paraffin-embedded specimens from 78 Chinese patients with lung adenocarcinoma were assayed using both qPCR and ddPCR. Results The three ddPCR assays had a limit of detection of 0.02% and a wide dynamic range from 1 to 20,000 copies measurement. The L858R and ex19del assays had a 0% background level in the technical and clinical settings. The T790M assay appeared to have a 0.03% technical background. The ddPCR assays were robust for correct determination of EGFR mutation status in patients, and the dynamic range appeared to be better than qPCR methods. The ddPCR assay for T790M could detect patient samples that the qPCR method failed to detect. About 49% of this patient cohort had EGFR mutations (L858R, 15.4%; ex19del, 29.5%; T790M, 6.4%). Two patients with the ex19del mutation also had a naïve T790M mutation. Conclusion These data suggest that the ddPCR method could be useful in the personalized treatment of patients with lung cancer. PMID:26124670

Biorefineries of carbon dioxide: From carbon capture and storage (CCS) to bioenergies production.

PubMed

Cheah, Wai Yan; Ling, Tau Chuan; Juan, Joon Ching; Lee, Duu-Jong; Chang, Jo-Shu; Show, Pau Loke

2016-09-01

Greenhouse gas emissions have several adverse environmental effects, like pollution and climate change. Currently applied carbon capture and storage (CCS) methods are not cost effective and have not been proven safe for long term sequestration. Another attractive approach is CO2 valorization, whereby CO2 can be captured in the form of biomass via photosynthesis and is subsequently converted into various form of bioenergy. This article summarizes the current carbon sequestration and utilization technologies, while emphasizing the value of bioconversion of CO2. In particular, CO2 sequestration by terrestrial plants, microalgae and other microorganisms are discussed. Prospects and challenges for CO2 conversion are addressed. The aim of this review is to provide comprehensive knowledge and updated information on the current advances in biological CO2 sequestration and valorization, which are essential if this approach is to achieve environmental sustainability and economic feasibility. Copyright © 2016 Elsevier Ltd. All rights reserved.

Lignin‐Derived Thioacidolysis Dimers: Reevaluation, New Products, Authentication, and Quantification

PubMed Central

Yue, Fengxia; Regner, Matt; Sun, Runcang

2017-01-01

Abstract Lignin structural studies play an essential role both in understanding the development of plant cell walls and for valorizing lignocellulosics as renewable biomaterials. Dimeric products released by selectively cleaving β–aryl ether linkages between lignin units reflect the distribution of recalcitrant lignin units, but have been neither absolutely defined nor quantitatively determined. Here, 12 guaiacyl‐type thioacidolysis dimers were identified and quantified using newly synthesized standards. One product previously attributed to deriving from β–1‐coupled units was established as resulting from β–5 units, correcting an analytical quandary. Another longstanding dilemma, that no β–β dimers were recognized in thioacidolysis products from gymnosperms, was resolved with the discovery of two such authenticated compounds. Individual GC response factors for each standard compound allowed rigorous quantification of dimeric products released from softwood lignins, affording insight into the various interunit‐linkage distributions in lignins and thereby guiding the valorization of lignocellulosics. PMID:28125766

Separation of lignin from corn stover hydrolysate with quantitative recovery of ionic liquid

DOE PAGES

Underkofler, Kaylee A.; Teixeira, Rodrigo E.; Pietsch, Stephen A.; ...

2015-02-20

Abundant lignocellulosic biomass could become a source of sugars and lignin, potential feedstocks for the now emergent biorenewable economy. The production and conversion of sugars from biomass have been well-studied, but far less is known about the production of lignin that is amenable to valorization. In this paper, we report the isolation of lignin generated from the hydrolysis of biomass dissolved in the ionic liquid 1-butyl-3-methylimidazolium chloride. We show that lignin can be isolated from the hydrolysate slurry by simple filtration or centrifugation, and that the ionic liquid can be recovered quantitatively by a straightforward wash with water. Finally, themore » isolated lignin is not only free from ionic liquid but also lacks cellulosic residues and is substantially depolymerized, making it a promising feedstock for valorization by conversion into fuels and chemicals.« less

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...

Hydrochemical tracers in the middle Rio Grande Basin, USA: 2. Calibration of a groundwater-flow model

NASA Astrophysics Data System (ADS)

Sanford, Ward E.; Plummer, L. Niel; McAda, Douglas P.; Bexfield, Laura M.; Anderholm, Scott K.

The calibration of a groundwater model with the aid of hydrochemical data has demonstrated that low recharge rates in the Middle Rio Grande Basin may be responsible for a groundwater trough in the center of the basin and for a substantial amount of Rio Grande water in the regional flow system. Earlier models of the basin had difficulty reproducing these features without any hydrochemical data to constrain the rates and distribution of recharge. The objective of this study was to use the large quantity of available hydrochemical data to help calibrate the model parameters, including the recharge rates. The model was constructed using the US Geological Survey's software MODFLOW, MODPATH, and UCODE, and calibrated using 14C activities and the positions of certain flow zones defined by the hydrochemical data. Parameter estimation was performed using a combination of nonlinear regression techniques and a manual search for the minimum difference between field and simulated observations. The calibrated recharge values were substantially smaller than those used in previous models. Results from a 30,000-year transient simulation suggest that recharge was at a maximum about 20,000 years ago and at a minimum about 10,000 years ago. Le calibrage d'un modèle hydrogéologique avec l'aide de données hydrochimiques a démontré que la recharge relativement faible dans le Grand Bassin du Middle Rio est vraisemblablement responsable d'une dépression des eaux souterraines dans le centre du bassin et de la présence d'une quantité substantielle d'eau du Rio Grande dans l'aquifère du Groupe de Santa Fe. Les modèles antérieurs avaient des difficultés à reproduire ses conclusions sans l'aide de données hydrochimiques pour contraindre les taux et la distribution de la recharge. L'objectif de cette étude était d'utiliser une grande quantité de données hydrochimiques permettant de calibrer les paramètres du modèle, et notamment les taux de recharge. Le modèle a été construit avec les logiciels MODFLOW, MODPATH et UCODE, et calibré en utilisant les concentrations en 14C et la position de certaines zones définies par les données hydrochimiques. L'estimation de certains paramètres a été réalisée en utilisant une combinaison de techniques de régression non linéaire et une méthode de recherche exhaustive (Brute Force Search) de l'erreur minimum entre les résultats des observations et les simulations. Les valeurs de la recharge calibrée sont substantiellement plus basses que celles estimées dans les modèles antérieurs. Les résultats d'une simulation en régime transitoire sur 30.000 ans suggèrent que la recharge au maximum de la dernière glaciation (last glacial maximum, LGM) était 10 fois supérieure au taux actuel, mais que la recharge qui a suivit la LGM était plus bas que la recharge actuelle. La calibración de un modelo de aguas subterráneas con el apoyo de datos hidroquímicos ha demostrado que la recarga relativamente baja en la cuenca media del Río Grande es probablemente responsable de una depresión de aguas subterráneas en el centro de la cuenca y de la presencia de una cantidad considerable de agua del Río Grande en el acuífero del Grupo Santa Fe. Los modelos propuestos con anterioridad para la cuenca tenían dificultades para reproducir estas características ya que no tenían datos hidroquímicos que permitieran delimitar los ritmos y distribución de recarga. El objetivo del presente estudio consistió en utilizar una gran cantidad de datos hidroquímicos disponibles para ayudar a calibrar los parámetros del modelo, incluyendo los ritmos de recarga. El modelo se construyó utilizando los modelos MODFLOW, MODPATH, y UCODE del USGS, mientras que la calibración se realizó en base a concentraciones de 14C y a la posición de ciertas zonas definidas con los datos hidroquímicos. La estimación de parámetros se realizó en base a una combinación de técnicas de regresiones no lineares y a una búsqueda a viva fuerza del error mínimo entre los datos observados y los simulados. Los valores de recarga calibrados fueron significativamente más bajos que los estimados en los modelos anteriores. Los resultados de una simulación transitoria de 30,000 años sugieren que la recarga durante la última glacial máxima (LGM) fue diez veces el ritmo moderno, pero que la recarga que ocurrió inmediatamente después de la LGM fue más baja que el ritmo moderno.

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

TENDENCIA DE LA TUBERCULOSIS EN LA REGIÓN SANITARIA V DE LA PROVINCIA DE BUENOS AIRES, AÑOS 2000–2011

PubMed Central

CHIRICO, CRISTINA; SANJURJO, MYRIAM; IRIBARREN, SARAH; APPENDINO, ANDREA; ZERBINI, ELSA; ETCHEVARRIA, MIRTA

2016-01-01

El objetivo del presente trabajo fue analizar la situación epidemiológica de la tuberculosis (TB) en la Región Sanitaria V (RSV), provincia de Buenos Aires. El estudio de tendencia permitió conocer un valor promedio de las variaciones de la tasa de incidencia (TI), calculadas por regresión lineal simple y expresadas como variación anual promedio (VAP). Se analizaron el número de casos notificados y TI por 100 000 habitantes de todas las formas de TB, los casos de TB pulmonar (TBP) y TBP confirmados por bacteriología, total casos por grupos de edad: 0 – 14; 15 – 29 y mayores de 64 años, entre el 1° de enero de 2000 al 31 de diciembre de 2011. La declinación de la TI fue menor al 5% para todas las formas de TB e inferior en las TBP confirmadas bacteriológicamente. Los casos de TBP y TI más elevadas, se concentraron en el grupo de 15 a 29 años, con tendencia estable o ligeramente ascendente de la TI en la TBP bacilífera. El mismo comportamiento presentaron los casos de TBP infantil con confirmación bacteriológica. La mayor velocidad de descenso en la TI de la TBP se produjo en este grupo de edad, mientras que en mayores de 64 años, el descenso fue sostenido en el tiempo. La TB persiste como un riesgo de salud en la RSV, con casos en edades jóvenes, por lo que sigue siendo necesario fortalecer el control de la TB en esta región. PMID:26117604

PubMed

Müller Velázquez, Lucía; Bobadilla, Fernando; Novosak, Marina; Cortese, Iliana; Laczeski, Margarita

2018-03-20

Streptococcus agalactiae (SGB) es causa de infecciones severas en menores de tres meses. Meningitis, neumonía y sepsis son los principales cuadros en estos niños. Estas infecciones se encuentran entre las más graves que puede sufrir un individuo en sus primeras doce horas de vida. El niño adquiere la infección por transmisión vertical de la madre colonizada. Para prevenir la enfermedad neonatal se recomienda penicilina como droga de elección en la profilaxis intraparto (PIP) en embarazadas colonizadas. Sin embargo, actualmente se han detectado cepas con sensibilidad disminuida a penicilina por lo que resulta importante realizar la vigilancia de la sensibilidad al mismo para asegurar su utilidad durante la profilaxis. El objetivo de este trabajo fue determinar la sensibilidad a penicilina en cepas de SGB recuperados de mujeres embarazadas de 35-37 semanas de gestación. Se estudiaron 96 aislamientos y se determinó la sensibilidad por método epsilométrico Etest® (LIOFILCHEM, Italia), siguiendo las recomendaciones del Clinical Laboratory Standards Institute (CLSI). Se obtuvo la Concentración Inhibitoria Mínima (CIM) para cada aislamiento bacteriano. El 100% (96) de las cepas estudiadas fue sensible a penicilina con valores de CIM comprendidos entre 0,012 y 0,094 µg mL-1. Estos resultados indican que penicilina sigue siendo el antimicrobiano de elección durante la profilaxis intraparto, para la prevención de la enfermedad neonatal causada por SGB en nuestra región. Se destaca la importancia de la vigilancia epidemiológica de la sensibilidad a penicilina y a otros antimicrobianos para alertar sobre nuevos mecanismos de resistencia y adecuar estrategias de tratamiento.

Aplicación de la metodología Molecular de Orbitales de Defecto Cuántico (MQDO) al cálculo de intensidades vibrónicas y vidas medias de niveles vibracionales

NASA Astrophysics Data System (ADS)

María Velasco Sanz, Ana

Desde que se formuló, en 1996, la metodología Molecular de Orbitales de Defecto Cuántico (MQDO) [1], se han obtenido datos de calidad relativos a intensidades de bandas electrónicas que implican estados Rydberg para una gran variedad de sistemas moleculares [2]. Animados por los buenos resultados obtenidos, recientemente hemos abordado el estudio de transiciones vibrónicas, es decir aquellas que ocurren entre estados vibracionales que pertenecen a distintos estados Rydberg electrónicos. Como prototipo adecuado para nuestros propósitos hemos elegido la molécula de NO, importante en la química de la atmósfera, y para la cual existen en la bibliografía datos experimentales de calidad suficiente para contrastar la validez de nuestros resultados. En concreto, hemos calculado las fuerzas de oscilador y coeficientes de Einstein para transiciones electrónicas y vibrónicas de las principales bandas del NO, al igual que vidas medias radiativas de niveles vibracionales de dicha molécula. Las propiedades estudiadas son esenciales para la comprensión de los aspectos teóricos de los procesos físicos básicos relativos a la dispersión electrónica en moléculas heteronucleares con capas abiertas. Además, valores fiables de probabilidades de transición moleculares tienen importantes aplicaciones en Astrofísica, en la modelización de procesos fotodinámicos moleculares, etc., al igual que para evaluar más profundamente la validez de nuestra metodología teórica.

Total number of planetary nebulae in different galaxies and the PN distance scale.

NASA Astrophysics Data System (ADS)

Peimbert, M.

1990-12-01

RESUMEN A partir de una muestra de quince galaxias se encuentra que la tasa de natalidad de nebulosas planetarias por unidad de luminosidad, , disminuye al aumentar la luminosidad y al aumentar (B - V)0. Se discuten posibles explicaciones para estos resultados. Se estima el valor de para la Galaxia y a partir de el se encuentra que el numero total de nebulosas planetarias en nuestra galaxia con R < 0.64 pc- es de 7200 j 1800. El valor galactico de implica que la mayorfa de las estrellas de masa intermedia pasa por la etapa de nebulosa planetaria. El valor galactico de , la tasa de mortalidad estelar por unidad de luminosidad y la tasa de natalidad de enanas blancas favorecen escalas de distancias largas para nebulosas planetarias, como la de Cudworth (1974) y la de Mallik y Peimbert (1988). ABSTRACT From a sample of fifteen galaxies it is found that the birth rate of PN per unit luminosity, , decreases with increasing luminosity and with increasing (B - V)0 possible reasons for these relationships are discussed. The value for the Galaxy is estimated and, from it, a total number of PN of 7200 # 1800 wid R < 0.64 pc is obtained. The galactic value implies that most of the intermediate mass stars go through the PN stage. The galactic value, the stellar death rate per unit luminosity and the white dwarf birth rate are in favor of long distance scales to PN like those of Cudworth (1974) and Mallik and (1988). Key wonis: NEBULAE.PLANETARY - STARS-EVOLUTION - STARS-SThLIAR STA. S

Valorization of starchy, cellulosic, and sugary food waste into hydroxymethylfurfural by one-pot catalysis.

PubMed

Yu, Iris K M; Tsang, Daniel C W; Yip, Alex C K; Chen, Season S; Ok, Yong Sik; Poon, Chi Sun

2017-10-01

This study aimed to produce a high-value platform chemical, hydroxymethylfurfural (HMF), from food waste and evaluate the catalytic performance of trivalent and tetravalent metals such as AlCl 3 , CrCl 3 , FeCl 3 , Zr(O)Cl 2 , and SnCl 4 for one-pot conversion. Starchy food waste, e.g., cooked rice and penne produced 4.0-8.1 wt% HMF and 46.0-64.8 wt% glucose over SnCl 4 after microwave heating at 140 °C for 20 min. This indicated that starch hydrolysis was effectively catalyzed but subsequent glucose isomerization was rate-limited during food waste valorization, which could be enhanced by 40-min reaction to achieve 22.7 wt% HMF from cooked rice. Sugary food waste, e.g., kiwifruit and watermelon, yielded up to 13 wt% HMF over Sn catalyst, which mainly resulted from naturally present fructose. Yet, organic acids in fruits may hinder Fe-catalyzed dehydration by competing for the Lewis sites. In contrast, conversion of raw mixed vegetables as cellulosic food waste was limited by marginal hydrolysis at the studied conditions (120-160 °C and 20-40 min). It is interesting to note that tetravalent metals enabled HMF production at a lower temperature and shorter time, while trivalent metals could achieve a higher HMF selectivity at an elevated temperature. Further studies on kinetics, thermodynamics, and reaction pathways of food waste valorization are recommended. Copyright © 2017 Elsevier Ltd. All rights reserved.

Search for a new economic optimum in the management of household waste in Tiaret city (western Algeria).

PubMed

Asnoune, M; Abdelmalek, F; Djelloul, A; Mesghouni, K; Addou, A

2016-11-01

In household waste matters, the objective is always to conceive an optimal integrated system of management, where the terms 'optimal' and 'integrated' refer generally to a combination between the waste and the techniques of treatment, valorization and elimination, which often aim at the lowest possible cost. The management optimization of household waste using operational methodologies has not yet been applied in any Algerian district. We proposed an optimization of the valorization of household waste in Tiaret city in order to lower the total management cost. The methodology is modelled by non-linear mathematical equations using 28 variables of decision and aims to assign optimally the seven components of household waste (i.e. plastic, cardboard paper, glass, metals, textiles, organic matter and others) among four centres of treatment [i.e. waste to energy (WTE) or incineration, composting (CM), anaerobic digestion (ANB) or methanization and landfilling (LF)]. The analysis of the obtained results shows that the variation of total cost is mainly due to the assignment of waste among the treatment centres and that certain treatment cannot be applied to household waste in Tiaret city. On the other hand, certain techniques of valorization have been favoured by the optimization. In this work, four scenarios have been proposed to optimize the system cost, where the modelling shows that the mixed scenario (the three treatment centres CM, ANB, LF) suggests a better combination of technologies of waste treatment, with an optimal solution for the system (cost and profit). © The Author(s) 2016.

PubMed

Defagó, Victor

2017-10-10

Introducción: La incorporación de la Clínica y la Imagenología permiten una mejor comprensión de la Anatomía. El objetivo de este trabajo es desarrollar un prototipo rápido en material sintético que replique detalles anatómicos para ser utilizado en la docencia y el entrenamiento quirúrgico en Pediatría.Material y Método: Presentación de caso: Paciente de un año de edad con síndrome de dificultad respiratoria. En el examen endoscópico se halló una compresión traqueal distal. La angiotomografía confirmó la presencia de una malformación vascular. Con la finalidad de analizar una conducta adecuada, se solicitó la confección de un prototipo rápido a escala 1:1 que simulara una condición idéntica a la topografía torácica del paciente, utilizando imágenes virtuales 3D almacenadas en formato DICOM.Técnica de generación de prototipo rápido: Se obtuvo una malla digital tridimensional y se generó el código "g" que se utilizó para controlar el hardware de producción. Se efectuó simulación digital y producción en material plástico (ABS) con técnica de deposición y fusión (MDF). Se validó el prototipo comparándolo con las mediciones testigos del modelo virtual en 3 D.Resultados y Discusión: El modelo replicó exactamente los defectos hallados en la tomografía y endoscopía, confirmando la presencia de la malformación vascular y su repercusión sobre el aparato respiratorio. El prototipo rápido muestra las estructuras internas y externas del cuerpo humano con máxima precisión permitiendo una visión topográfica de situaciones "normales o patológicas" que facilitaría la docencia y el entrenamiento del equipo quirúrgico para proponer un plan de tratamiento adecuado. Hay numerosas áreas de la medicina que se beneficiarían con este modelo que podría ser construído con diversos tipos de materiales de diferente flexibilidad y consistencia. Conclusiones: El prototipo rápido le da estado físico a las imágenes virtuales 3D, permitiendo la docencia y entrenamiento del equipo quirúrgico.

A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with the Japanese brindling coat colour in rabbits (Oryctolagus cuniculus).

PubMed

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.

Incentivizing Monitoring and Compliance in Trophy Hunting

PubMed Central

BUNNEFELD, NILS; EDWARDS, CHARLES T T; ATICKEM, ANAGAW; HAILU, FETENE; MILNER-GULLAND, E J

2014-01-01

Conservation scientists are increasingly focusing on the drivers of human behavior and on the implications of various sources of uncertainty for management decision making. Trophy hunting has been suggested as a conservation tool because it gives economic value to wildlife, but recent examples show that overharvesting is a substantial problem and that data limitations are rife. We use a case study of trophy hunting of an endangered antelope, the mountain nyala (Tragelaphus buxtoni), to explore how uncertainties generated by population monitoring and poaching interact with decision making by 2 key stakeholders: the safari companies and the government. We built a management strategy evaluation model that encompasses the population dynamics of mountain nyala, a monitoring model, and a company decision making model. We investigated scenarios of investment into antipoaching and monitoring by governments and safari companies. Harvest strategy was robust to the uncertainty in the population estimates obtained from monitoring, but poaching had a much stronger effect on quota and sustainability. Hence, reducing poaching is in the interests of companies wishing to increase the profitability of their enterprises, for example by engaging community members as game scouts. There is a threshold level of uncertainty in the population estimates beyond which the year-to-year variation in the trophy quota prevented planning by the safari companies. This suggests a role for government in ensuring that a baseline level of population monitoring is carried out such that this level is not exceeded. Our results illustrate the importance of considering the incentives of multiple stakeholders when designing frameworks for resource use and when designing management frameworks to address the particular sources of uncertainty that affect system sustainability most heavily. Incentivando el Monitoreo y el Cumplimiento en la Caza de Trofeos Resumen Científicos conservacionistas cada vez se enfocan más en los conductores del comportamiento humano y en las implicaciones de varias fuentes de incertidumbre en la toma de decisiones de manejo. La cacería de trofeos ha sido sugerida como una herramienta de conservación porque le otorga valor económico a la vida silvestre, pero ejemplos recientes muestran que la sobrecolecta es un problema sustancial y que las limitaciones de datos son abundantes. Usamos el estudio de caso de la cacería de trofeos de un antílope en peligro, el nyala de las montañas (Tragelaphus buxtoni), para explorar como las incertidumbres generadas por el monitoreo de poblaciones y el tráfico de especies interactúan con la toma de decisiones de 2 actores clave: las compañías de safari y el gobierno. Construimos un modelo de evaluación de estrategia de manejo que incluye la dinámica poblacional del nyala de las montañas, un modelo de monitoreo y un modelo de toma de decisiones de una compañía. Investigamos escenarios de inversión en el combate del tráfico de especies y el monitoreo por el gobierno y las compañías de safari. La estrategia de colecta fue robusta hacia la incertidumbre en los estimados de población obtenidos del monitoreo, pero el tráfico de especies tuvo un efecto más fuerte sobre la cuota y la sustentabilidad; por esto, reducir el tráfico de especies está dentro de los intereses de compañías que desean incrementar la rentabilidad de las empresas, por ejemplo al hacer participar a los miembros de la comunidad como guías de caza. Hay un nivel umbral de incertidumbre en los estimados de población más allá del cual la variación anual en la cuota de trofeos previene la planeación por parte de las compañías de safari. Esto sugiere un papel para el gobierno asegurando que un nivel base de monitoreo de población se lleve a cabo para que este nivel no sea excedido. Nuestros resultados ilustran la importancia de considerar los incentivos de partes interesadas múltiples al designar marcos de trabajo para el uso de recursos y que al designar marcos de trabajo de manejo dirigirse a las fuentes particulares de incertidumbre que afecten más al sistema de sustentabilidad. PMID:24001054

Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p.

PubMed

Gawlik-Kuklinska, Katarzyna; Wierzba, Jolanta; Wozniak, Agnieszka; Iliszko, Mariola; Debiec-Rychter, Maria; Dubaniewicz-Wybieralska, Miroslawa; Limon, Janusz

2008-01-01

We report on a 4-year-old boy with a proximal interstitial deletion in the short arm of chromosome 4p with the karyotype 46,XY,del(4)(p14p15.32),inv(9)(p13q13). For a precise delineation of the deleted region, an array-based comparative genomic hybridization (a-CGH) analysis was performed. The proband's phenotype and cytogenetic findings are compared with previously reported cases with proximal 4p deletion syndrome. The syndrome is associated with normal growth, varying degrees of mental retardation, characteristic facial appearance and minor dysmorphic features. Additionally, our patient developed a seizure disorder due to abnormal neuronal migration, i.e., periventricular heterotopia.

[Idiopathic intracranial hypertension: a caesarean with epidural anaesthesia after bringing the cerebrospinal fluid pressure back to normal].

PubMed

Pérez Rodríguez, M; de Carlos Errea, J; Dorronsoro Auzmendi, M; Batllori Gastón, M

2013-12-01

Idiopathic intracranial hypertension is diagnosed by exclusion. Because of its uncertain physiopathology and infrequent occurrence, its anaesthetic management is not well defined. The patient in this case is a pregnant woman with this disease with no lumbar-peritoneal shunt who was referred for non-urgent caesarean section, consisting of CSF drainage and pressure normalisation before the administration of epidural anaesthesia. We believe this technique can de effective to achieve adequate blockage and increased patient comfort, as well as improving postoperative recovery. Copyright © 2012 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Published by Elsevier España. All rights reserved.

Intertextual Sexual Politics: Illness and Desire in Enrique Gomez Carrillo's "Del amor", "del dolor y del vicio" and Aurora Caceres's "La rosa muerta"

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…

Needs of Parents in Caring for Their Children in a Pediatric Intensive Care Unit.

PubMed

Valderrama Sanabria, Mery Luz; Muñoz de Rodríguez, Lucy

2016-04-01

This work sought to describe the needs of parents to participate in caring for their children hospitalized in a pediatric intensive care unit (PICU). This is a qualitative study based on the ethno-nursing research method proposed by Leininger. For data collection and analysis, in-depth open interviews were used, along with field notes and enabler guidelines proposed by Leininger: stranger-friend, observation, participation, reflexion, and the Sunrise model. Parents of children hospitalized in a PICU in the city of Tunja (Boyacá, Colombia) participated between February 2012 and October 2013. The needs of parents to care for their children were described in the following themes: clear and timely communication, familiarization with technology, the value of the family, favoring the parent-children interaction during visits, and valuing and respecting generic (folk) knowledge. The study provides knowledge, from the cultural perspective of parents with children hospitalized in PICU, as input to plan and develop care actions with them, according to their own needs.Objetivo.Describir las necesidades de padres para participar del cuidado de sus hijos hospitalizados en la Unidad de Cuidado Intensivo Pediátrico (UCIP). Métodos. Investigación cualitativa basada en el método de la etnoenfermería propuesto por Leininger. Para la recolección y análisis de la información se utilizaron la entrevista abierta a profundidad, las notas de campo y guías facilitadoras propuestas por Leininger: Extraño amigo, Observación, Participación Reflexión y el modelo del sol naciente. Participaron los padres de niños hospitalizados en una UCIP de Tunja (Boyacá, Colombia) entre febrero de 2012 y Octubre de 2013. Resultados. Se describen las necesidades de los padres para cuidar a sus hijos en los siguientes temas: Comunicación clara y oportuna, Familiarización con la Tecnología, El valor de la familia, Favorecer la interacción de padres-hijos durante la visita y Valorar y respetar el conocimiento genérico. Conclusión. Se describieron las necesidades de los padres en el cuidado de sus hijos internados en una UCIP. La enfermera debe tener en cuenta el conocimiento genérico de las personas y respetar las creencias que ellas tengan, con el fin de fortalecer su desempeño como profesional mediante la aplicación de teorías en enfermería.

Parámetros sagitales espino-pélvicos en una población asintomática Argentina

PubMed Central

Guiroy, Alfredo; Gagliardi, Martín; Sícoli, Alfredo; Masanés, Nicolás Gonzalez; Ciancio, Alejandro Morales; Jalón, Pablo; Mezzadri, Juan José

2018-01-01

Resumen Introducción: Analizar y describir los parámetros sagitales espinales y pelvianos de una serie de 100 voluntarios argentinos. Métodos: Se realizaron prospectivamente espinogramas digitalizados de perfil a 100 voluntarios (30 hombres y 70 mujeres), con un promedio de edad 34,14 años. Todos los voluntarios eran asintomáticos al momento de realizarse el estudio. Los espinogramas se hicieron en un equipo Kodak Elite CR. Se realizaron las mediciones usando el software Surgimap®, versión 2.2.9.9.2. Se tomaron los siguientes parámetros: C7 SVA, C2-C7 CL, TK, LL, TPA, T1 tilt, PI, PT, SS, ángulo L4-S1, ángulo L1-L4, PI-LL y CTPA. Los datos fueron analizados empleando el paquete estadístico Medcalc 11.2. Se determinaron las estadísticas descriptivas adecuadas para cada variable según su escala de medición y distribución. Se realizó la estimación de intervalos de referencia del 95% y de intervalos de confianza del 95% para todas las variables. Así, el nivel de significación obtenido fue igual a 0.05. Se dividió a los voluntarios según la clasificación morfométrica de Roussouly en cuatro tipos. Resultados: El promedio para cada variable fue CL −10.04, TK 30.14, T1SPi −6.5, L1-L4 −12.45, L4-S1 −46.16, CTPA 2.5, TPA 4.65, PT 11.22, PI 48.04, LL −59.10, PI-LL −11.11, C7 SVA mm −23.68. Los ±2 desvíos estándar para cada variable fueron: CL (−33.26, 13.12); TK (17.15, 43.30); T1SPi (−11.78, −1.25), L1-L4 (−25.55, 0.25), L4-S1 (−64.44, −27.55), CTPA (0.33, 4.80), TPA (−8.64, 18.22), PT (−1.99, 24.75), PI (25.23, 71.44), LL (−78.74, −39.89), PI-LL (−29.10, 7.04), C7 SVA mm (−79.45, 32.08). Conclusión: En esta serie prospectiva de 100 adultos voluntarios se determinaron los valores de normalidad de los parámetros sagitales espinales y pelvianos en una población de Argentina. PMID:29430329

Associations between uncoupling protein 2, body composition, and resting energy expenditure in lean and obese African American, white, and Asian children.

PubMed

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.

Women of Valor in the American Civil War

DTIC Science & Technology

1999-04-01

Newcomb and Agnes Scott. Coeducational universities were Cornell, Michigan, Wisconsin, Kansas, Missouri, California, Texas and Kentucky. To meet the...courses separate from men. By the 1890’s Syracuse, California, Iowa and Howard Universities were among the dozen coeducational medical colleges

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

PubMed

McLarren, Keith W; Severson, Tesa M; du Souich, Christèle; Stockton, David W; Kratz, Lisa E; Cunningham, David; Hendson, Glenda; Morin, Ryan D; Wu, Diane; Paul, Jessica E; An, Jianghong; Nelson, Tanya N; Chou, Athena; DeBarber, Andrea E; Merkens, Louise S; Michaud, Jacques L; Waters, Paula J; Yin, Jingyi; McGillivray, Barbara; Demos, Michelle; Rouleau, Guy A; Grzeschik, Karl-Heinz; Smith, Raffaella; Tarpey, Patrick S; Shears, Debbie; Schwartz, Charles E; Gecz, Jozef; Stratton, Michael R; Arbour, Laura; Hurlburt, Jane; Van Allen, Margot I; Herman, Gail E; Zhao, Yongjun; Moore, Richard; Kelley, Richard I; Jones, Steven J M; Steiner, Robert D; Raymond, F Lucy; Marra, Marco A; Boerkoel, Cornelius F

2010-12-10

CK syndrome (CKS) is an X-linked recessive intellectual disability syndrome characterized by dysmorphism, cortical brain malformations, and an asthenic build. Through an X chromosome single-nucleotide variant scan in the first reported family, we identified linkage to a 5 Mb region on Xq28. Sequencing of this region detected a segregating 3 bp deletion (c.696_698del [p.Lys232del]) in exon 7 of NAD(P) dependent steroid dehydrogenase-like (NSDHL), a gene that encodes an enzyme in the cholesterol biosynthesis pathway. We also found that males with intellectual disability in another reported family with an NSDHL mutation (c.1098 dup [p.Arg367SerfsX33]) have CKS. These two mutations, which alter protein folding, show temperature-sensitive protein stability and complementation in Erg26-deficient yeast. As described for the allelic disorder CHILD syndrome, cells and cerebrospinal fluid from CKS patients have increased methyl sterol levels. We hypothesize that methyl sterol accumulation, not only cholesterol deficiency, causes CKS, given that cerebrospinal fluid cholesterol, plasma cholesterol, and plasma 24S-hydroxycholesterol levels are normal in males with CKS. In summary, CKS expands the spectrum of cholesterol-related disorders and insight into the role of cholesterol in human development. Copyright © 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Regulación del flujo sanguíneo uterino. II. Funciones de estrógeno y receptores estrogénicos α/β en acciones genómicas y no-genómicas del endotelio uterino *

PubMed Central

Mayra, Pastore R.; Rosalina, Villalón L.; López, Gladys; Iruretagoyena, Jesús; Magness, Ronald

2015-01-01

Resumen El embarazo está marcado por cambios y adaptaciones cardiovasculares que son importantes para el crecimiento y mantenimiento de la placenta y el feto. Durante este periodo, las adaptaciones vasculares uterinas manifiestan cambios clasificados como de corto o largo plazo los cuales están relacionados con adaptaciones vasodilatadoras, angiogénicas o de remodelación. El estrógeno y los receptores estrogénicos clásicos (REs), RE-α y RE-β, han demostrado ser parcialmente responsables por facilitar el incremento dramático en el fluido sanguíneo uterino necesario durante el embarazo. En ésta revisión bibliográfica se discuten la base estructural para la diversidad y selectividad funcional de los REs por el estrógeno, el papel de los REs sobre los efectos genómicos y no-genómicos en células endoteliales de arterias uterinas (CEAU). Estos temas integran el conocimiento científico sobre la regulación molecular de CEAU para mantener el incremento fisiológico en la perfusión útero-placentaria observada durante un embarazo normal. PMID:26113751

Block modeling of crustal deformation in Tierra del Fuego from GNSS velocities

NASA Astrophysics Data System (ADS)

Mendoza, L.; Richter, A.; Fritsche, M.; Hormaechea, J. L.; Perdomo, R.; Dietrich, R.

2015-05-01

The Tierra del Fuego (TDF) main island is divided by a major transform boundary between the South America and Scotia tectonic plates. Using a block model, we infer slip rates, locking depths and inclinations of active faults in TDF from inversion of site velocities derived from Global Navigation Satellite System observations. We use interseismic velocities from 48 sites, obtained from field measurements spanning 20 years. Euler vectors consistent with a simple seismic cycle are estimated for each block. In addition, we introduce far-field information into the modeling by applying constraints on Euler vectors of major tectonic plates. The difference between model and observed surface deformation near the Magallanes Fagnano Fault System (MFS) is reduced by considering finite dip in the forward model. For this tectonic boundary global plate circuits models predict relative movements between 7 and 9 mm yr- 1, while our regional model indicates that a strike-slip rate of 5.9 ± 0.2 mm yr- 1 is accommodated across the MFS. Our results indicate faults dipping 66- 4+ 6° southward, locked to a depth of 11- 5+ 5 km, which are consistent with geological models for the MFS. However, normal slip also dominates the fault perpendicular motion throughout the eastern MFS, with a maximum rate along the Fagnano Lake.

Antagonistic effects of IL-17 and D-resolvins on endothelial Del-1 expression through a GSK-3β-C/EBPβ pathway.

PubMed

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.

Spontaneous control of HIV-1 viremia in a subject with protective HLA-B plus HLA-C alleles and HLA-C associated single nucleotide polymorphisms.

PubMed

Moroni, Marco; Ghezzi, Silvia; Baroli, Paolo; Heltai, Silvia; De Battista, Davide; Pensieroso, Simone; Cavarelli, Mariangela; Dispinseri, Stefania; Vanni, Irene; Pastori, Claudia; Zerbi, Pietro; Tosoni, Antonella; Vicenzi, Elisa; Nebuloni, Manuela; Wong, Kim; Zhao, Hong; McHugh, Sarah; Poli, Guido; Lopalco, Lucia; Scarlatti, Gabriella; Biassoni, Roberto; Mullins, James I; Malnati, Mauro S; Alfano, Massimo

2014-12-05

Understanding the mechanisms by which some individuals are able to naturally control HIV-1 infection is an important goal of AIDS research. We here describe the case of an HIV-1(+) woman, CASE1, who has spontaneously controlled her viremia for the last 14 of her 20 years of infection. CASE1 has been clinically monitored since 1993. Detailed immunological, virological and histological analyses were performed on samples obtained between 2009 and 2011. As for other Elite Controllers, CASE1 is characterized by low to undetectable levels of plasma HIV-1 RNA, peripheral blood mononuclear cell (PBMC) associated HIV-1 DNA and reduced in vitro susceptibility of target cells to HIV-1 infection. Furthermore, a slow rate of virus evolution was demonstrated in spite the lack of assumption of any antiretroviral agent. CASE1 failed to transmit HIV-1 to either her sexual male partner or to her child born by vaginal delivery. Normal values and ratios of T and B cells were observed, along with normal histology of the intestinal mucosa. Attempts to isolate HIV-1 from her PBMC and gut-derived cells were unsuccessful, despite expression of normal cell surface levels of CD4, CCRC5 and CXCR4. CASE1 did not produce detectable anti-HIV neutralizing antibodies in her serum or genital mucosal fluid although she displayed potent T cell responses against HIV-1 Gag and Nef. CASE1 also possessed multiple genetic polymorphisms, including HLA alleles (B*14, B*57, C*06 and C*08.02) and HLA-C single nucleotide polymorphisms (SNPs, rs9264942 C/C and rs67384697 del/del), that have been previously individually associated with spontaneous control of plasma viremia, maintenance of high CD4(+) T cell counts and delayed disease progression. CASE1 has controlled her HIV-1 viremia below the limit of detection in the absence of antiretroviral therapy for more than 14 years and has not shown any sign of immunologic deterioration or disease progression. Co-expression of multiple protective HLA alleles, HLA-C SNPs and strong T cell responses against HIV-1 proteins are the most likely explanation of this very benign case of spontaneous control of HIV-1 disease progression.

DEL phenotype.

PubMed

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.

ASSOCIATIONS BETWEEN UNCOUPLING PROTEIN 2, BODY COMPOSITION, AND RESTING ENERGY EXPENDITURE IN LEAN AND OBESE AFRICAN AMERICAN, CAUCASIAN, AND ASIAN CHILDREN

PubMed Central

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

Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.

PubMed

Cui, Ying-Xia; Xia, Xin-Yi; Zhou, Yang; Gao, Lin; Shang, Xue-Jun; Ni, Tong; Wang, Wei-Ping; Fan, Xiao-Buo; Yin, Hong-Lin; Jiang, Shao-Jun; Yao, Bing; Hu, Yu-An; Wang, Gang; Li, Xiao-Jun

2013-01-01

Dyschromatosis universalis hereditaria (DUH) is a rare heterogeneous pigmentary genodermatosis, which was first described in 1933. The genetic cause has recently been discovered by the discovery of mutations in ABCB6. Here we investigated a Chinese family with typical features of autosomal dominant DUH and 3 unrelated patients with sporadic DUH. Skin tissues were obtained from the proband, of this family and the 3 sporadic patients. Histopathological examination and immunohistochemical analysis of ABCB6 were performed. Peripheral blood DNA samples were obtained from 21 affected, 14 unaffected, 11 spouses in the family and the 3 sporadic patients. A genome-wide linkage scan for the family was carried out to localize the causative gene. Exome sequencing was performed from 3 affected and 1 unaffected in the family. Sanger sequencing of ABCB6 was further used to identify the causative gene for all samples obtained from available family members, the 3 sporadic patients and a panel of 455 ethnically-matched normal Chinese individuals. Histopathological analysis showed melanocytes in normal control's skin tissue and the hyperpigmented area contained more melanized, mature melanosomes than those within the hypopigmented areas. Empty immature melanosomes were found in the hypopigmented melanocytes. Parametric multipoint linkage analysis produced a HLOD score of 4.68, with markers on chromosome 2q35-q37.2. A missense mutation (c.1663 C>A, p.Gln555Lys) in ABCB6 was identified in this family by exome and Sanger sequencing. The mutation perfectly cosegregated with the skin phenotype. An additional mutation (g.776 delC, c.459 delC) in ABCB6 was found in an unrelated sporadic patient. No mutation in ABCB6 was discovered in the other two sporadic patients. Neither of the two mutations was present in the 455 controls. Melanocytes showed positive immunoreactivity to ABCB6. Our data add new variants to the repertoire of ABCB6 mutations with DUH.

BEST1 sequence variants in Italian patients with vitelliform macular dystrophy

PubMed Central

Sodi, Andrea; Passerini, Ilaria; Caputo, Roberto; Bacci, Giacomo Maria; Bodoj, Mirela; Torricelli, Francesca; Menchini, Ugo

2012-01-01

Purpose To analyze the spectrum of sequence variants in the BEST1 gene in a group of Italian patients affected by Best vitelliform macular dystrophy (VMD). Methods Thirty Italian patients with a diagnosis of VMD and 20 clinically healthy relatives were recruited. They belonged to 19 Italian families predominantly originating from central Italy. They received a standard ophthalmologic examination, OCT scan, and electrophysiological tests (ERG and EOG). Fluorescein and ICG angiographies and fundus autofluorescence imaging were performed in selected cases. DNA samples were analyzed for sequence variants of the BEST1 gene by direct sequencing techniques. Results Nine missense variants and one deletion were found in the affected patients; each patient carried one mutation. Five variants [c.73C>T (p.Arg25Trp), c.652C>T (p.Arg218Cys), c.652C>G (p.Arg218Gly), c.728C>T (p.Ala243Val), c.893T>C (p.Phe298Ser)] have already been described in literature while another five variants [c.217A>C (p.Ile73Leu), c.239T>G (p.Phe80Cys), c.883_885del (p.Ile295del), c.907G>A (p.Asp303Asn), c.911A>G (p.Asp304Gly)] had not previously been reported. Affected patients, sometimes even from the same family, occasionally showed variable phenotypes. One heterozygous variant was also found in five clinically healthy relatives with normal fundus, visual acuity and ERG but with abnormal EOG. Conclusions Ten variants in the BEST1 gene were detected in a group of individuals with clinically apparent VMD, and in some clinically normal individuals with an abnormal EOG. The high prevalence of novel variants and the frequent report of a specific variant (p.Arg25Trp) that has rarely been described in other ethnic groups suggests a distribution of BEST1 variants peculiar to Italian VMD patients. PMID:23213274

Changes in trophic flow structure of Independence Bay (Peru) over an ENSO cycle

NASA Astrophysics Data System (ADS)

Taylor, Marc H.; Wolff, Matthias; Mendo, Jaime; Yamashiro, Carmen

2008-10-01

During the strong warm El Niño (EN) that occurred in 1997/98, Independence Bay (14°S, Peru) showed a ca. 10 °C increase in surface temperatures, higher oxygen concentrations, and clearer water due to decreased phytoplankton concentrations. Under these quasi-tropical conditions, many benthic species suffered (e.g. macroalgae, portunid crabs, and polychaetes) while others benefited (e.g. scallop, sea stars, and sea urchins). The most obvious change was the strong recruitment success and subsequent proliferation of the scallop Argopecten purpuratus, whose biomass increased fiftyfold. To understand these changes, steady-state models of the bay ecosystem trophic structure were constructed and compared for a normal upwelling year (1996) and during an EN (1998), and longer-term dynamics (1996-2003) were explored based on time series of catch and biomass using Ecopath with Ecosim (EwE) software. Model inputs were based on surveys and landings data collected by the Instituto del Mar del Perú (IMARPE). Results indicate that while ecosystem size (total throughput) is reduced by 18% during EN, mainly as a result of decreased total primary production, benthic biomass remains largely unchanged despite considerable shifts in the dominant benthic taxa (e.g. scallops replace polychaetes as secondary consumers). Under normal upwelling conditions, predation by snails and crabs utilize the production of their prey almost completely, resulting in more efficient energy flow to higher trophic levels than occurs during EN. However during EN, the proliferation of the scallop A. purpuratus combined with decreased phytoplankton increased the proportion of directly utilized primary production, while exports and flows to detritus are reduced. The simulations suggest that the main cause for the scallop outburst and for the reduction in crab and macroalgae biomass was a direct temperature effect, whereas other changes are partially explained by trophic interactions. The simulations suggest that bottom-up effects largely control the system.

Congenital cataracts and other abnormalities in a female with 46.X, del(X)(q26q28)mat: A new locus for X-linked congenital cataract?

DOE Office of Scientific and Technical Information (OSTI.GOV)

Babul, R.; Chitayat, D.; Teshima, I.

1994-09-01

Three forms of X-linked congenital cataracts have been delineated: congenital cataract with posterior Y-sutural opacities in heterozygotes, congenital cataract and microcornea or microphthalmia and congenital cataract-dental syndrome (Nance-Horan syndrome). Of these, only the Nance-Horan syndrome has been mapped to Xp22.3-p21.1. However, Warburg has suggested that these different forms of X-linked congenital cataracts are due to deletions of varying sizes, placing them in the vicinity of the Nance-Horan syndrome region. We report on a female patient born to a 29-year-old primigravida woman who at birth was found to have hypotonia, dysmorphic facial features, hydrocephalus and dense white congenital bilateral cataracts. Othermore » ophthalmological findings included bilateral nystagmus and shallow orbits. Chromosome analysis revealed 46,X,del(X)(q26q28)mat. The mother, however, is phenotypically normal. Brain CT scan on the female infant revealed communicating hydrocephalus and a muscle biopsy showed congenital muscle fiber disproportion. An EMG and NCV were normal. At 4 years of age, her height and weight were below -3SD and her OFC was +2SD. Molecular studies using DNA markers located in Xq26-qter have revealed that the proximal breakpoint in the patient and her mother is defined by the HPRT locus while the distal breakpoint is defined by the locus DXS1108. This indicates that the deletion is not terminal but rather interstitial, retaining sequences proximal to the telomeric region. Other molecular studies are in progress to determine the X-inactivation status of the deleted chromosome in our patient and her mother as a possible explanation for the variation in the phenotype. These clinical and molecular findings suggest that another locus for X-linked congenital cataract exists at Xq26-28.« less

Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice

PubMed Central

Chi, Zai-Long; Yasumoto, Fumie; Sergeev, Yuri; Minami, Masayoshi; Obazawa, Minoru; Kimura, Itaru; Takada, Yuichiro; Iwata, Takeshi

2010-01-01

Primary open-angle glaucoma (POAG) is one of the three principal subtypes of glaucoma and among the leading cause of blindness worldwide. POAG is defined by cell death of the retinal ganglion cells (RGCs) and surrounding neuronal cells at higher or normal intraocular pressure (IOP). Coded by one of the three genes responsible for POAG, WD repeat-containing protein 36 (WDR36) has two domains with a similar folding. To address whether WDR36 is functionally important in the retina, we developed four transgenic mice strains overexpressing a wild-type (Wt) and three mutant variants of D606G, deletion of amino acids at positions 605–607 (Del605–607) and at 601–640 (Del601–640) equivalent to the location of the D658G mutation observed in POAG patients. A triple amino acid deletion of mouse Wdr36 at positions 605–607 corresponding to the deletion at positions 657–659 in humans developed progressive retinal degeneration at the peripheral retina with normal IOP. RGCs and connecting amacrine cell synapses were affected at the peripheral retina. Axon outgrowth rate of cultured RGC directly isolated from transgenic animal was significantly reduced by the Wdr36 mutation compared with Wt. Molecular modeling of wild and mutant mouse Wdr36 revealed that deletion at positions 605–607 removed three residues and a hydrogen bond, required to stabilize anti-parallel β-sheet of the 6th β-propeller in the second domain. We concluded that WDR36 plays an important functional role in the retina homeostasis and mutation to this gene can cause devastating retinal damage. These data will improve understanding of the functional property of WDR36 in the retina and provide a new animal model for glaucoma therapeutics. PMID:20631153

Tetralogy of Fallot associated with deletion in the DiGeorge region of chromosome 22 (22q11)

DOE Office of Scientific and Technical Information (OSTI.GOV)

D`Angelo, J.A.; Pillers, D.M.; Jett, P.L.

Cardiac conotruncal defects, such as Tetralogy of Fallot (TOF), are associated with DiGeorge syndrome which has been mapped to the q11 region of chromosome 22 and includes abnormalities of neural crest and branchial arch development. Patients with conotruncal defects and velo-cardio-facial syndrome may have defects in the 22q11 region but not show the complete DiGeorge phenotype consisting of cardiac, thymus, and parathyroid abnormalities. We report two neonates with TOF and small deletions in the DiGeorge region of chromosome 22 (46,XX,del(22)(q11.21q11.23) and 46,XY,del(22)(q11.2q11.2)) using both high-resolution cytogenetics and fluorescence in situ hybridization (FISH). The first patient is a female with TOFmore » and a family history of congenital heart disease. The mother has pulmonic stenosis and a right-sided aortic arch, one brother has TOF, and a second brother has a large VSD. The patient had intrauterine growth retardation and had thrombocytopenia due to maternal IgG platelet-directed autoantibody. Lymphocyte populations, both T and B cells, were reduced in number but responded normally to stimulation. The findings were not attributed to a DiGeorge phenotype. Although she had transient neonatal hypocalcemia, her parathyroid hormone level was normal. The patient was not dysmorphic in the newborn period but her mother had features consistent with velo-cardio-facial syndrome. The second patient was a male with TOF who was not dysmorphic and had no other significant clinical findings and no family history of heart disease. Lymphocyte testing did not reveal a specific immunodeficiency. No significant postnatal hypocalcemia was noted. These cases illustrate that there is a wide spectrum of clinical features associated with defects of the 22q11 region. We recommend karyotype analysis, including FISH probes specific to the DiGeorge region, in any patient with conotruncal cardiac defects.« less

Structural geology and stress history of the Platanares geothermal site, Honduras: implications on the tectonics of the northwestern Caribbean plate boundary

NASA Astrophysics Data System (ADS)

Aldrich, M. J.; Adams, Andrew I.; Escobar, Carlos

1991-03-01

The structural geology of the Platanares geothermal site in western Honduras, located about 25 km south of the northern boundary of the Caribbean plate, is the result of post Early Miocene extensional deformation. Normal faults, many with listric geometries, are numerous throughout the area. Strike-slip faulting has mostly occurred on reactived normal faults. Analysis of the fault slip data shows an older minimum principal stress, σ 3, oriented approximately N-S and a contemporary σ 3 tensional and oriented ENE-WSW. The analysis suggests that σ 3 has rotated clockwise since the Early Miocene although some of the change in orientation of σ 3 might reflect counterclockwise rotation of the crust about a vertical axis. The σ 1 and σ 2 stress axes apparently switched recently, with the σ 3 axis remaining unchanged. These results are consistent with a tectonic model in which the east-drifting Caribbean plate is pinned against North America by the subducting Cocos plate (Malfait and Dinkleman, 1972) and the northern and southern margins of the Caribbean plate are broad, mobile zones that are undergoing counterclockwise and clockwise rotations respectively (Gose, 1985). The majority of the hot springs at Platanares lie along Quebrada del Agua Caliente. Fractures control the movement of the geothermal waters. Hot springs occur along joints and faults and, in places, hot water flows laterally along bedding planes. If the fractures also control the movement of water at depth then the source reservoir of the geothermal waters may be located northeast of the principal hot spring areas along the quebrada since the majority of the faults dip in that direction. However, if the fault that seems to have controlled the development of Quebrada del Agua Caliente is vertical as inferred then the main reservoir may lie directly beneath this drainage.

HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies.

PubMed

de la Fuente-Gonzalo, Félix; Nieto, Jorge M; Velasco, Diego; Cela, Elena; Pérez, Germán; Fernández-Teijeiro, Ana; Escudero, Antonio; Villegas, Ana; González-Fernández, Fernando A; Ropero, Paloma

2016-04-01

Structural hemoglobinopathies do not usually have a clinical impact, but they can interfere with the analytical determination of some parameters, such as the glycated hemoglobin in diabetic patients. Thalassemias represent a serious health problem in areas where their incidence is high. The defects in the post-translational modifications produce hyper-unstable hemoglobin that is not detected by most of electrophoretic or chromatographic methods that are available so far. We studied seven patients who belong to six unrelated families. The first two families were studied because they had peak abnormal hemoglobin (Hb) during routine analytical assays. The other four families were studied because they had microcytosis and hypochromia with normal HbA2 and HbF without iron deficiency. HbA2 and F quantification and abnormal Hb separation were performed by chromatographic and electrophoretic methods. The molecular characterization was performed using specific sequencing. The Hb Puerta del Sol presents electrophoretic mobility and elution in HPLC that is different from HbA and similar to HbS. The electrophoretic and chromatographic profiles of the four other variants are normal and do not show any anomalies, and their identification was only possible with sequencing. Some variants, such as Hb Valdecilla, Hb Gran Vía, Hb Macarena and Hb El Retiro, have significant clinical impact when they are associated with other forms of α-thalassemia, which could lead to more serious forms of this group of pathologies as for HbH disease. Therefore, it is important to maintain an adequate program for screening these diseases in countries where the prevalence is high to prevent the occurrence of severe forms.

Female pseudohermaphroditism with multiple caudal anomalies: Absence of Y-specific DNA sequences as pathogenetic factors

DOE Office of Scientific and Technical Information (OSTI.GOV)

Seaver, L.H.; Grimes, J.; Erickson, R.P.

1994-05-15

46,XX female pseudohermaphrodites have been previously described with nearly complete masculinization of the external genitalia and no apparent source of testosterone. Multiple malformations of internal genital, urinary, and gastrointestinal tracts are associated. We have evaluated four such infants with female pseudohermaphroditism and multiple caudal anomalies. Three cases had apparently normal chromosome (46,XX); one had a 46,XX,del(10)(q25.3{yields}qter) chromosome constitution. The chromosome breakpoint is in the region of PAX2, a developmentally important paired box gene which is expressed in urogenital tissue. Using the polymerase chain reaction, we screened for the presence of multiple Y specific sequences, including SRY (sex determining region, Ymore » chromosome), that could explain masculinization of the external genitalia. All were negative for Y centromeric sequences, ZFY (Zinc finger Y), and SRY. Furthermore, there was no evidence for adrenal or other sources of testosterone. We suggest that the masculinization in these cases is the result of abnormal expression of genes which would normally be regulated by testosterone. 32 refs., 1 fig., 2 tabs.« less

Fluorescence in situ hybridization of TP53 for the detection of chromosome 17 abnormalities in myelodysplastic syndromes.

PubMed

Sánchez-Castro, Judit; Marco-Betés, Víctor; Gómez-Arbonés, Xavier; García-Cerecedo, Tomás; López, Ricard; Talavera, Elisabeth; Fernández-Ruiz, Sara; Ademà, Vera; Marugan, Isabel; Luño, Elisa; Sanzo, Carmen; Vallespí, Teresa; Arenillas, Leonor; Marco Buades, Josefa; Batlle, Ana; Buño, Ismael; Martín Ramos, María Luisa; Blázquez Rios, Beatriz; Collado Nieto, Rosa; Vargas, Ma Teresa; González Martínez, Teresa; Sanz, Guillermo; Solé, Francesc

2015-01-01

Conventional G-banding cytogenetics (CC) detects chromosome 17 (chr17) abnormalities in 2% of patients with de novo myelodysplastic syndromes (MDS). We used CC and fluorescence in situ hybridization (FISH) (LSI p53/17p13.1) to assess deletion of 17p in 531 patients with de novo MDS from the Spanish Group of Hematological Cytogenetics. FISH detected - 17 or 17p abnormalities in 13 cases (2.6%) in whom no 17p abnormalities were revealed by CC: 0.9% of patients with a normal karyotype, 0% in non-informative cytogenetics, 50% of patients with a chr17 abnormality without loss of 17p and 4.7% of cases with an abnormal karyotype not involving chr17. Our results suggest that applying FISH of 17p13 to identify the number of copies of the TP53 gene could be beneficial in patients with a complex karyotype. We recommend using FISH of 17p13 in young patients with a normal karyotype or non-informative cytogenetics, and always in isolated del(17p).

Vigilando la Calidad del Agua de los Grandes Rios de la Nacion: El Programa NASQAN del Rio Grande (Rio Bravo del Norte)

USGS Publications Warehouse

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.

Philip T. Pienkos | NREL

Science.gov Websites

Valorization: Development of a Methane-to-Adipic Acid Bioprocess (consultant) Areas of Expertise Molecular engineering Enzyme and protein engineering Techno-economic analysis Education Ph.D., Molecular Biology Principal Research Supervisor, NREL, Aug. 2007-May 2011 Research Director, Molecular Logix, Inc., The

75 FR 79445 - Unblocking of Specially Designated Nationals and Blocked Persons Pursuant to Executive Order 12978

Federal Register 2010, 2011, 2012, 2013, 2014

2010-12-20

... DEPOSITO POPULAR DE DROGAS S.A., Cali, Colombia; c/o INVERSIONES Y CONSTRUCCIONES ABC S.A., Cali, Colombia... KRESSFOR DE COLOMBIA S.A., Bogota, Colombia; c/o INVERSIONES ARA LTDA., Cali, Colombia; c/o VALORES...

Shallow marine event sedimentation in a volcanic arc-related setting: The Ordovician Suri Formation, Famatina range, northwest Argentina

USGS Publications Warehouse

Mangano, M.G.; Buatois, L.A.

1996-01-01

The Loma del Kilome??tro Member of the Lower Ordovician Suri Formation records arc-related shelf sedimentation in the Famatina Basin of northwest Argentina. Nine facies, grouped into three facies assemblages, are recognized. Facies assemblage 1 [massive and parallel-laminated mudstones (facies A) locally punctuated by normally graded or parallel-laminated silty sandstones (facies B] records deposition from suspension fall-out and episodic storm-induced turbidity currents in an outer shelf setting. Facies assemblage 2 [massive and parallel-laminated mudstones (facies A) interbedded with rippled-top very fine-grained sandstones (facies D)] is interpreted as the product of background sedimentation alternating with distal storm events in a middle shelf environment. Facies assemblage 3 [normally graded coarse to fine-grained sandstones (facies C); parallel-laminated to low angle cross-stratified sandstones (facies E); hummocky cross-stratified sandstones and siltstones (facies F); interstratified fine-grained sandstones and mudstones (facies G); massive muddy siltstones and sandstones (facies H); tuffaceous sandstones (facies I); and interbedded thin units of massive and parallel-laminated mudstones (facies A)] is thought to represent volcaniclastic mass flow and storm deposition coupled with subordinated suspension fall-out in an inner-shelf to lower-shoreface setting. The Loma del Kilo??metro Member records regressive-transgressive sedimentation in a storm- and mass flow-dominated high-gradient shelf. Volcano-tectonic activity was the important control on shelf morphology, while relative sea-level change influenced sedimentation. The lower part of the succession is attributed to mud blanketing during high stand and volcanic quiescence. Progradation of the inner shelf to lower shoreface facies assemblage in the middle part represents an abrupt basinward shoreline migration. An erosive-based, non-volcaniclastic, turbidite unit at the base of this package suggests a sea level fall. Pyroclastic detritus, andesites, and a non-volcanic terrain were eroded and their detritus was transported basinward and redeposited by sediment gravity flows during the low stand. The local coexistence of juvenile pyroclastic detritus and fossils suggests reworking of rare ash-falls. The upper part of the Loma del Kilo??metre Member records a transgression with no evidence of contemporaneous volcanism. Biostratinomic, paleoecologic, and ichnologic analyses support this paleoenvironmental interpretations and provide independent evidence for the dominance of episodic sedimentation in an arc-related shallow marine setting. Fossil concentrations were mainly formed by event processes, such as storms and volcaniclastic mass flows. High depositional rates inhibited formation of sediment-starved biogenic concentrations. Collectively, trace fossils belong to the Cruziana ichnofacies. Low diversity, scarcity, and presence of relatively simple forms indicate benthic activity under stressful conditions, most probably linked to high sedimentation rates. Contrasting sedimentary dynamics between 'normal shelves' and their volcaniclastic counterparts produce distinct and particular signatures in the stratigraphic record. Arc-related shelves are typified by event deposition with significant participation of sediment gravity flows, relatively high sedimentation rates, textural and mineralogical immaturity of sediments, scarcity and low diversity of trace fossils, and dominance of transported and reworked faunal assemblages genetically related to episodic processes.

An Investigation of the Valorization of Durian Biomass

NASA Astrophysics Data System (ADS)

Ng, C.

2016-12-01

The unsustainable exploitation of limited resources has made the valorization of biomass to obtain a higher value from waste a particular area of interest in green chemistry. Much research has been done on the conversion of food waste to valuable chemicals. This study investigates the conversion of the biomass of durian (durio zibethinus), a fruit widely consumed particularly in Southeast Asia, to gamma-valerolactone (GVL). In the presence of sulfuric acid catalyst, the process occurs via four consecutive reactions, including the dehydration of carbohydrates such as fructose (C6H12O6) and cellulose ((C6H10O5)n) to 5-(hydroxymethyl)furfural (HMF), the hydration of HMF to levulinic acid (LA) and formic acid (FA), the hydrogenation of LA to 4-hydroxyvaleric acid (4-HVA), and ultimately the dehydration to gamma-valerolactone (GVL). It is hypothesized that, throughout an 8 hour period, there will be an initial peak in HMF concentration, followed by a steady decrease in its concentration due to hydration of HMF to LA and FA. Concentrations of HMF, LA, FA, and ammonium ion will be measured by running NMR analyses of the durian skin, meat, and seed samples taken at intervals of 0, 1, 2, 4, and 8 hours elapsed. Many of the impressive physical and chemical properties of GVL, including its nontoxicity, miscibility with water, and low vapor pressure, make it highly suitable as a sustainable liquid for use as a solvent, a transportation fuel, and a versatile feedstock for further derivatization. For example, addition of GVL to a diesel-biodiesel mixture results in a significant reduction in smoke and carbon monoxide emissions. Therefore, our aim in this study is to identify the concentrations of various valuable compounds in durian waste, and thereby assess the viability of the valorization of durian biomass.

The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness.

PubMed

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.

Absence of diabetes and pancreatic exocrine dysfunction in a transgenic model of carboxyl-ester lipase-MODY (maturity-onset diabetes of the young).

PubMed

Ræder, Helge; Vesterhus, Mette; El Ouaamari, Abdelfattah; Paulo, Joao A; McAllister, Fiona E; Liew, Chong Wee; Hu, Jiang; Kawamori, Dan; Molven, Anders; Gygi, Steven P; Njølstad, Pål R; Kahn, C Ronald; Kulkarni, Rohit N

2013-01-01

CEL-MODY is a monogenic form of diabetes with exocrine pancreatic insufficiency caused by mutations in CARBOXYL-ESTER LIPASE (CEL). The pathogenic processes underlying CEL-MODY are poorly understood, and the global knockout mouse model of the CEL gene (CELKO) did not recapitulate the disease. We therefore aimed to create and phenotype a mouse model specifically over-expressing mutated CEL in the pancreas. We established a monotransgenic floxed (flanking LOX sequences) mouse line carrying the human CEL mutation c.1686delT and crossed it with an elastase-Cre mouse to derive a bitransgenic mouse line with pancreas-specific over-expression of CEL carrying this disease-associated mutation (TgCEL). Following confirmation of murine pancreatic expression of the human transgene by real-time quantitative PCR, we phenotyped the mouse model fed a normal chow and compared it with mice fed a 60% high fat diet (HFD) as well as the effects of short-term and long-term cerulein exposure. Pancreatic exocrine function was normal in TgCEL mice on normal chow as assessed by serum lipid and lipid-soluble vitamin levels, fecal elastase and fecal fat absorption, and the normoglycemic mice exhibited normal pancreatic morphology. On 60% HFD, the mice gained weight to the same extent as controls, had normal pancreatic exocrine function and comparable glucose tolerance even after resuming normal diet and follow up up to 22 months of age. The cerulein-exposed TgCEL mice gained weight and remained glucose tolerant, and there were no detectable mutation-specific differences in serum amylase, islet hormones or the extent of pancreatic tissue inflammation. In this murine model of human CEL-MODY diabetes, we did not detect mutation-specific endocrine or exocrine pancreatic phenotypes, in response to altered diets or exposure to cerulein.

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.

Del(20q) in patients with chronic lymphocytic leukemia: a therapy-related abnormality involving lymphoid or myeloid cells.

PubMed

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.

Del(20q) in patients with chronic lymphocytic leukemia: A therapy-related abnormality involving lymphoid or myeloid cells

PubMed Central

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

Increasing Naval Security Cooperation between the U.S., Chile and Peru

DTIC Science & Technology

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

Predicting lignin depolymerization yields from quantifiable properties using fractionated biorefinery lignins

USDA-ARS?s Scientific Manuscript database

Lignin depolymerization to aromatic monomers with high yields and selectivity is essential for the economic feasibility of many lignin-valorization strategies within integrated biorefining processes. Importantly, the quality and properties of the lignin source play an essential role in impacting the...

SOCIAL ROLE VALORIZATION IN COMMUNITY MENTAL HEALTH HOUSING: DOES IT CONTRIBUTE TO THE COMMUNITY INTEGRATION AND LIFE SATISFACTION OF PEOPLE WITH PSYCHIATRIC DISABILITIES?

PubMed Central

Aubry, Tim; Flynn, Robert J; Virley, Barb; Neri, Jaclynne

2013-01-01

Despite its importance as a theory in the development of programs for populations with disabilities, social role valorization (SRV) has received relatively little attention in community mental health research. We present findings of a study that examined the relationship of housing-related SRV to community integration and global life satisfaction of persons with psychiatric disabilities. The housing environments and associated supports of a group of 73 persons with psychiatric disabilities living in a mid-sized city were assessed using the PASSING rating system on the extent that their housing environments facilitated SRV. In addition, in-person interviews were conducted to determine the levels of physical integration, psychological integration, social integration, and life satisfaction of study participants. Results showed SRV contributing directly to all three types of community integration. Psychological integration was found to mediate the relationship between SRV and life satisfaction. Implications of the findings are discussed. © 2013 Wiley Periodicals, Inc. PMID:23658470

Biodegradation of kraft lignin by newly isolated Klebsiella pneumoniae, Pseudomonas putida, and Ochrobactrum tritici strains.

PubMed

Xu, Zhaoxian; Qin, Ling; Cai, Mufeng; Hua, Wenbo; Jin, Mingjie

2018-05-01

Bacterial systems have drawn an increasing amount of attention on lignin valorization due to their rapid growth and powerful environmental adaptability. In this study, Klebsiella pneumoniae NX-1, Pseudomonas putida NX-1, and Ochrobactrum tritici NX-1 with ligninolytic potential were isolated from leaf mold samples. Their ligninolytic capabilities were determined by measuring (1) the cell growth on kraft lignin as the sole carbon source, (2) the decolorization of kraft lignin and lignin-mimicking dyes, (3) the micro-morphology changes and transformations of chemical groups in kraft lignin, and (4) the ligninolytic enzyme activities of these three isolates. To the best of our knowledge, this is the first report that Ochrobactrum tritici species can depolymerize and metabolize lignin. Moreover, laccase, lignin peroxidase, and Mn-peroxidase showed high activities in P. putida NX-1. Due to their excellent ligninolytic capabilities, these three bacteria are important supplements to ligninolytic bacteria library and could be valuable in lignin valorization.

Lignin-Derived Thioacidolysis Dimers: Reevaluation, New Products, Authentication, and Quantification

DOE Office of Scientific and Technical Information (OSTI.GOV)

Yue, Fengxia; Lu, Fachuang; Regner, Matt

2017-01-26

Lignin structural studies play an essential role both in understanding the development of plant cell walls and for valorizing lignocellulosics as renewable biomaterials. Dimeric products released by selectively cleaving β–aryl ether linkages between lignin units reflect the distribution of recalcitrant lignin units, but have been neither absolutely defined nor quantitatively determined. Here in this work, 12 guaiacyl-type thioacidolysis dimers were identified and quantified using newly synthesized standards. One product previously attributed to deriving from β–1-coupled units was established as resulting from β–5 units, correcting an analytical quandary. Another longstanding dilemma, that no β–β dimers were recognized in thioacidolysis products frommore » gymnosperms, was resolved with the discovery of two such authenticated compounds. Finally, individual GC response factors for each standard compound allowed rigorous quantification of dimeric products released from softwood lignins, affording insight into the various interunit-linkage distributions in lignins and thereby guiding the valorization of lignocellulosics.« less

The environmental sustainability of anaerobic digestion as a biomass valorization technology.

PubMed

De Meester, Steven; Demeyer, Jens; Velghe, Filip; Peene, Andy; Van Langenhove, Herman; Dewulf, Jo

2012-10-01

This paper studies the environmental sustainability of anaerobic digestion from three perspectives. First, reference electricity is compared to electricity production from domestic organic waste and energy crop digestion. Second, different digester feed possibilities in an agricultural context are studied. Third, the influence of applying digestate as fertilizer is investigated. Results highlight that biomass is converted at a rational exergy (energy) efficiency ranging from 15.3% (22.6) to 33.3% (36.0). From a life cycle perspective, a saving of over 90% resources is achieved in most categories when comparing biobased electricity to conventional electricity. However, operation without heat valorization results in 32% loss of this performance while using organic waste (domestic and agricultural residues) as feedstock avoids land resources. The use of digestate as a fertilizer is beneficial from a resource perspective, but causes increased nitrogen and methane emissions, which can be reduced by 50%, making anaerobic digestion an environmentally competitive bioenergy technology. Copyright © 2012 Elsevier Ltd. All rights reserved.

Deep eutectic solvent-based valorization of spent coffee grounds.

PubMed

Yoo, Da Eun; Jeong, Kyung Min; Han, Se Young; Kim, Eun Mi; Jin, Yan; Lee, Jeongmi

2018-07-30

Spent coffee grounds (SCGs) are viewed as a valuable resource for useful bioactive compounds, such as chlorogenic acids and flavonoids, and we suggest an eco-friendly and efficient valorization method. A series of choline chloride-based deep eutectic solvents (DESs) were tested as green extraction solvents for use with ultrasound-assisted extraction. Extraction efficiency was evaluated based on total phenolic content (TPC), total flavonoid content, total chlorogenic acids, and/or anti-oxidant activity. A binary DES named HC-6, which was composed of 1,6-hexanediol:choline chloride (molar ratio 7:1) was designed to produce the highest efficiency. Experimental conditions were screened and optimized for maximized efficiency using a two-level fractional factorial design and a central composite design, respectively. As a result, the proposed method presented significantly enhanced TPC and anti-oxidant activity. In addition, phenolic compounds could be easily recovered from extracts at high recovery yields (>90%) by adsorption chromatography. Copyright © 2018 Elsevier Ltd. All rights reserved.

Fed-batch anaerobic valorization of slaughterhouse by-products with mesophilic microbial consortia without methane production.

PubMed

Pessiot, J; Nouaille, R; Jobard, M; Singhania, R R; Bournilhas, A; Christophe, G; Fontanille, P; Peyret, P; Fonty, G; Larroche, C

2012-07-01

This work aimed at setting up a fully instrumented, laboratory-scale bioreactor enabling anaerobic valorization of solid substrates through hydrogen and/or volatile fatty acid (VFA) production using mixed microbial populations (consortia). The substrate used was made of meat-based wastes, especially from slaughterhouses, which are becoming available in large amounts as a consequence of the growing constraints for waste disposal from meat industry. A reconstituted microbial mesophilic consortium without Archaebacteria (methanogens), named PBr, was cultivated in a 5-L anaerobic bioreactor on slaughterhouse wastes. The experiments were carried out with sequential fed-batch operations, including liquid medium removal from the bioreactor and addition of fresh substrate. VFAs and nitrogen were the main metabolites observed, while hydrogen accumulation was very low and no methane production was evidenced. After 1,300 h of culture, yields obtained for VFAs reached 0.38 g/g dry matter. Strain composition of the microbial consortium was also characterized using molecular tools (temporal temperature gradient gel electrophoresis and gene sequencing).

Lignin-Derived Thioacidolysis Dimers: Reevaluation, New Products, Authentication, and Quantification.

PubMed

Yue, Fengxia; Lu, Fachuang; Regner, Matt; Sun, Runcang; Ralph, John

2017-03-09

Lignin structural studies play an essential role both in understanding the development of plant cell walls and for valorizing lignocellulosics as renewable biomaterials. Dimeric products released by selectively cleaving β-aryl ether linkages between lignin units reflect the distribution of recalcitrant lignin units, but have been neither absolutely defined nor quantitatively determined. Here, 12 guaiacyl-type thioacidolysis dimers were identified and quantified using newly synthesized standards. One product previously attributed to deriving from β-1-coupled units was established as resulting from β-5 units, correcting an analytical quandary. Another longstanding dilemma, that no β-β dimers were recognized in thioacidolysis products from gymnosperms, was resolved with the discovery of two such authenticated compounds. Individual GC response factors for each standard compound allowed rigorous quantification of dimeric products released from softwood lignins, affording insight into the various interunit-linkage distributions in lignins and thereby guiding the valorization of lignocellulosics. © 2015 The Authors. Published by Wiley-VCH Verlag GmbH & Co. KGaA.

Waking Up from Four Decades' Long Dream of Valorizing Agro-Food Byproducts: Toward Practical Applications of the Gained Knowledge.

PubMed

Domínguez-Perles, Raúl; Moreno, Diego A; García-Viguera, Cristina

2018-03-28

The late 1970s was the onset of literature about the first research outputs on alternatives to create added-value to agro-food byproducts focused on the reduction of the dependency on raw materials and, simultaneously, helping to reduce the environmental impacts of the agricultural activities. This trend, increased over the years and during the past decade, has been boosted by the growing concern of the socio-economic impact of wastes from agro-food activities, however, with little success of the proposed applications. Throughout four decades an array of studies have emerged, aimed to gain evidence on the relevance of innovation in the agro-food industry, as well as to overcome this situation. To our knowledge, only a few cases, summarized in the present perspective, represent the main alternatives currently available for the valorization of agro-food byproducts, with indications of some constraints that need to be addressed, in the coming years, to obtain a real profit from these products.

Valorization of residual Empty Palm Fruit Bunch Fibers (EPFBF) by microfluidization: production of nanofibrillated cellulose and EPFBF nanopaper.

PubMed

Ferrer, Ana; Filpponen, Ilari; Rodríguez, Alejandro; Laine, Janne; Rojas, Orlando J

2012-12-01

Different cellulose pulps were produced from sulfur-free chemical treatments of Empty Palm Fruit Bunch Fibers (EPFBF), a by-product from palm oil processing. The pulps were microfluidized for deconstruction into nanofibrillated cellulose (NFC) and nanopaper was manufactured by using an overpressure device. The morphological and structural features of the obtained NFCs were characterized via atomic force and scanning electron microscopies. The physical properties as well as the interactions with water of sheets from three different pulps were compared with those of nanopaper obtained from the corresponding NFC. Distinctive chemical and morphological characteristics and ensuing nanopaper properties were generated by the EPFBF fibers. The NFC grades obtained compared favorably with associated materials typically produced from bleached wood fibers. Lower water absorption, higher tensile strengths (107-137 MPa) and elastic modulus (12-18 GPa) were measured, which opens the possibility for valorization of such widely available bioresource. Copyright © 2012 Elsevier Ltd. All rights reserved.

Savior siblings, parenting and the moral valorization of children.

PubMed

Strong, Kimberly; Kerridge, Ian; Little, Miles

2014-05-01

Philosophy has long been concerned with 'moral status'. Discussions about the moral status of children, however, seem often to promote confusion rather than clarity. Using the creation of 'savior siblings' as an example, this paper provides a philosophical critique of the moral status of children and the moral relevance of parenting and the role that formative experience, regret and relational autonomy play in parental decisions. We suggest that parents make moral decisions that are guided by the moral significance they attach to children, to sick children and most importantly, to a specific sick child (theirs). This moral valorization is rarely made explicit and has generally been ignored by both philosophers and clinicians in previous critiques. Recognizing this, however, may transform not only the focus of bioethical discourse but also the policies and practices surrounding the care of children requiring bone marrow or cord blood transplantation by better understanding the values at stake behind parental decision making. © 2012 John Wiley & Sons Ltd.

Valorization of Rhizoclonium sp. algae via pyrolysis and catalytic pyrolysis.

PubMed

Casoni, Andrés I; Zunino, Josefina; Piccolo, María C; Volpe, María A

2016-09-01

The valorization of Rhizoclonium sp. algae through pyrolysis for obtaining bio-oils is studied in this work. The reaction is carried out at 400°C, at high contact time. The bio-oil has a practical yield of 35% and is rich in phytol. Besides, it is simpler than the corresponding to lignocellulosic biomass due to the absence of phenolic compounds. This property leads to a bio-oil relatively stable to storage. In addition, heterogeneous catalysts (Al-Fe/MCM-41, SBA-15 and Cu/SBA-15), in contact with algae during pyrolysis, are analyzed. The general trend is that the catalysts decrease the concentration of fatty alcohols and other high molecular weight products, since their mild acidity sites promote degradation reactions. Thus, the amount of light products increases upon the use of the catalysts. Particularly, acetol concentration in the bio-oils obtained from the catalytic pyrolysis with SBA-15 and Cu/SBA-15 is notably high. Copyright © 2016 Elsevier Ltd. All rights reserved.

Compositional insights and valorization pathways for carbonaceous material deposited during bio-oil thermal treatment.

PubMed

Ochoa, Aitor; Aramburu, Borja; Ibáñez, María; Valle, Beatriz; Bilbao, Javier; Gayubo, Ana G; Castaño, Pedro

2014-09-01

This work analyses the composition, morphology, and thermal behavior of the carbonaceous materials deposited during the thermal treatment of bio-oil (thermal pyrolytic lignin-TPL). The bio-oil was obtained by flash pyrolysis of lignocellulosic biomass (pine sawdust), and the TPLs were obtained in the 400-700 °C range. The TPLs were characterized by performing elemental analysis; (13)C NMR, Raman, FTIR, and X-ray photoelectron spectroscopy; SEM; and temperature-programmed oxidation analyzed by differential thermogravimetry and differential scanning calorimetry. The results are compared to a commercial lignin (CL). The TPLs have lower oxygen and hydrogen contents and a greater aromaticity and structural order than the CL material. Based on these features, different valorization routes are proposed: the TPL obtained at 500 °C is suitable for use as a fuel, and the TPL obtained at 700 °C has a suitable morphology and composition for use as an adsorbent or catalyst support. © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Valorization of winery waste vs. the costs of not recycling.

PubMed

Devesa-Rey, R; Vecino, X; Varela-Alende, J L; Barral, M T; Cruz, J M; Moldes, A B

2011-11-01

Wine production generates huge amounts of waste. Before the 1990s, the most economical option for waste removal was the payment of a disposal fee usually being of around 3000 Euros. However, in recent years the disposal fee and fines for unauthorized discharges have increased considerably, often reaching 30,000-40,000 Euros, and a prison sentence is sometimes also imposed. Some environmental friendly technologies have been proposed for the valorization of winery waste products. Fermentation of grape marc, trimming vine shoot or vinification lees has been reported to produce lactic acid, biosurfactants, xylitol, ethanol and other compounds. Furthermore, grape marc and seeds are rich in phenolic compounds, which have antioxidants properties, and vinasse contains tartaric acid that can be extracted and commercialized. Companies must therefore invest in new technologies to decrease the impact of agro-industrial residues on the environment and to establish new processes that will provide additional sources of income. Copyright © 2011 Elsevier Ltd. All rights reserved.

Micro-scale energy valorization of grape marcs in winery production plants.

PubMed

Fabbri, Andrea; Bonifazi, Giuseppe; Serranti, Silvia

2015-02-01

The Biochemical Methane Potential (BMP) of winery organic waste, with reference to two Italian red and white grapes (i.e. Nero Buono and Greco) by-products was investigated. The study was carried out to verify the possibility to reduce the production impact in a green-waste-management-chain-perspective. The possibility to efficiently utilize wine-related-by-products for energy production at a micro-scale (i.e. small-medium scale winery production plant) was also verified. Results showed as a good correlation can be established between the percentage of COD removal and the biogas production, as the winery can produce, from its waste methanization, about 7800 kW h year(-1) electrical and 8900 kW h year(-1) thermal. A critical evaluation was performed about the possibility to utilize the proposed approach to realize an optimal biomass waste management and an energetic valorization in a local-energy-production-perspective. Copyright © 2014 Elsevier Ltd. All rights reserved.

[Professor Emile Perrot: seven years of active collaboration with the journal La Quinzaine coloniale (1907-1914)].

PubMed

Bonnemain, Bruno

2009-02-01

E. Perrot, at that time young professor of Pharmacy in Paris, realizes in 1907 the interest of the valorization of the french colonial empire. He is then part, during 7 years, of the authors for the journal "La Quinzaine coloniale" where he is among the ones that publish in a new section related to scientific and technical publications with the objective to emphatize colonial ressources. Perrot approaches many subjects from rubber to medicinal herbs (especially quinquina) as well as babanas and botanic gardens. In doing it, it is an opportunity for Perrot to give some ideas on how to improve the valorization of french colonies, ideas that will be at least partially applied after the 1st World War when he became vice-president of the "Comité Interministeriel des Plantes Médicinales" created in 1918. The 300 articles that was published at the time by Perrot is an opportunity to better assess the role of E. Perrot later on, during the period 1918-1939.

Leveraging Existing Heritage Documentation for Animations: Senate Virtual Tour

NASA Astrophysics Data System (ADS)

Dhanda, A.; Fai, S.; Graham, K.; Walczak, G.

2017-08-01

The use of digital documentation techniques has led to an increase in opportunities for using documentation data for valorization purposes, in addition to technical purposes. Likewise, building information models (BIMs) made from these data sets hold valuable information that can be as effective for public education as it is for rehabilitation. A BIM can reveal the elements of a building, as well as the different stages of a building over time. Valorizing this information increases the possibility for public engagement and interest in a heritage place. Digital data sets were leveraged by the Carleton Immersive Media Studio (CIMS) for parts of a virtual tour of the Senate of Canada. For the tour, workflows involving four different programs were explored to determine an efficient and effective way to leverage the existing documentation data to create informative and visually enticing animations for public dissemination: Autodesk Revit, Enscape, Autodesk 3ds Max, and Bentley Pointools. The explored workflows involve animations of point clouds, BIMs, and a combination of the two.

Del-1 Expression as a Potential Biomarker in Triple-Negative Early Breast Cancer.

PubMed

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.

Characteristics and outcome of myelodysplastic syndromes (MDS) with isolated 20q deletion: a report on 62 cases.

PubMed

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.

A base substitution in the donor site of intron 12 of KIT gene is responsible for the dominant white coat colour of blue fox (Alopex lagopus).

PubMed

Yan, S Q; Hou, J N; Bai, C Y; Jiang, Y; Zhang, X J; Ren, H L; Sun, B X; Zhao, Z H; Sun, J H

2014-04-01

The dominant white coat colour of farmed blue fox is inherited as a monogenic autosomal dominant trait and is suggested to be embryonic lethal in the homozygous state. In this study, the transcripts of KIT were identified by RT-PCR for a dominant white fox and a normal blue fox. Sequence analysis showed that the KIT transcript in normal blue fox contained the full-length coding sequence of 2919 bp (GenBank Acc. No KF530833), but in the dominant white individual, a truncated isoform lacking the entire exon 12 specifically co-expressed with the normal transcript. Genomic DNA sequencing revealed that a single nucleotide polymorphism (c.1867+1G>T) in intron 12 appeared only in the dominant white individuals and a 1-bp ins/del polymorphism in the same intron showed in individuals representing two different coat colours. Genotyping results of the SNP with PCR-RFLP in 185 individuals showed all 90 normal blue foxes were homozygous for the G allele, and all dominant white individuals were heterozygous. Due to the truncated protein with a deletion of 35 amino acids and an amino acid replacement (p.Pro623Ala) located in the conserved ATP binding domain, we propose that the mutant receptor had absent tyrosine kinase activity. These findings reveal that the base substitution at the first nucleotide of intron 12 of KIT gene, resulting in skipping of exon 12, is a causative mutation responsible for the dominant white phenotype of blue fox. © 2013 Stichting International Foundation for Animal Genetics.

Portuguese version of the EUROPEP questionnaire: contributions to the psychometric validation.

PubMed

Roque, Hugo; Veloso, Ana; Ferreira, Pedro L

2016-10-03

To assess the construct validity and reliability of the Portuguese version of the European Task Force on Patient Evaluation of General Practice Care questionnaire. We applied the Portuguese version of the European Task Force on Patient Evaluation of General Practice Care to 392 users of 20 Family Health Units from the North of Portugal. The validity of the construct was evaluated by exploratory factor analysis, with the Principal Axis Factoring method, by orthogonal rotation (varimax procedure), by the Kaiser normalization criteria (eigenvalue ≥ 1). The factorability of the data matrix was verified by the Kaiser-Meyer-Olkin and Bartlett's sphericity test. We estimated the reliability by the indicator of internal consistency Cronbach's alpha. To analyze the correlations between satisfaction and loyalty, we used the Pearson correlations. The predictor effect of satisfaction on loyalty was analyzed by simple linear regression. Satisfaction presented five robust and well individualized dimensions - medical care, nursing care, clinical secretariat services, accessibility, and organization of services - with alpha values between 0.86 and 0.97, good levels of internal consistency. The loyalty showed alpha value of 0.72, considered a reasonable internal consistency. The satisfaction was predictive of loyalty. The Portuguese European Task Force on Patient Evaluation of General Practice Care questionnaire is a robust and reliable instrument to measure the satisfaction and loyalty of users of the Family Health Units. Avaliar a validade de construto e fiabilidade da versão portuguesa do questionário European Task Force on Patient Evaluation of General Practice Care. Foi aplicada a versão portuguesa do European Task Force on Patient Evaluation of General Practice Care a 392 utentes de 20 Unidades de Saúde Familiar do norte de Portugal. A validade do construto foi avaliada por análise fatorial exploratória, método Factoração de Eixo Principal, por meio da rotação ortogonal (procedimento varimax), pelo critério de normalização de Kaiser (valor próprio ≥ 1). A fatoriabilidade da matriz dos dados foi verificada por meio do Kaiser-Meyer-Olkin e do teste de esfericidade de Bartlett. A fiabilidade foi estimada pelo indicador de consistência interna alfa de Cronbach. Para analisar as correlações entre a satisfação e a lealdade, utilizou-se as correlações de Pearson. O efeito preditor da satisfação na lealdade foi analisado por meio de regressão linear simples. A satisfação apresentou cinco dimensões robustas e bem individualizadas - cuidados médicos, cuidados de enfermagem, serviços de secretariado clínico, acessibilidade e organização dos serviços - com valores de alfa entre 0,86 e 0,97, bons níveis de consistência interna. A lealdade apresentou valor de alfa de 0,72, considerada consistência interna razoável. A satisfação foi preditora da lealdade. O questionário European Task Force on Patient Evaluation of General Practice Care português é um instrumento robusto e fiável para medir a satisfação e lealdade dos utentes das Unidades de Saúde Familiar.

Endogenous developmental endothelial locus-1 limits ischemia-related angiogenesis by blocking inflammation

PubMed Central

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

[ASSOCIATION BETWEEN STEVIA SWEETENER CONSUMPTION AND NUTRITIONAL STATUS IN UNIVERSITY STUDENTS].

PubMed

Durán Agüero, Samuel; Vásquez Leiva, Alejandra; Morales Illanes, Gladys; Schifferli Castro, Ingrid; Sanhueza Espinoza, Claudia; Encina Vega, Claudia; Vivanco Cuevas, Karla; Mena Bolvaran, Rodrigo

2015-07-01

stevia consumption has increased worlwide among the different age groups; however, studies regarding the association between stevia intake and nutritional status in adults are scarce. to evaluate stevia intake in first year university students from five chilean cities (Santiago, Temuco, Viña del Mar, Concepción and Antofagasta) controlling by nutritional status, socioeconomic level, gender and whether their undergraduate program belongs to the health sciences. 486 first year university students belonging to 4 Chilean universities were evaluated. Each student completed a weekly food frequency questionnaire including food and beverages containing stevia. Selfreport of weight and height was requested. 69.8% of the students consumed stevia every week, the liquid form being the main contributor to the dietary stevia intake (81.2%). Only 1.4% of the students went over the Acceptable Daily Intake (ADI). Normal weight women show a higher stevia intake compared to those obese or overweight (p < 0.05). Finally, stevia consumption appears to be positively associated to normal weight in the first model (adjusted) (OR = 0.219; IC 95%: 0.13-0.35; p < 0.05) and second model (OR = 0.21; IC 95%: 0.13-0.35; p < 0.05). stevia consumption was positively associated with normal nutritional status in Chilean university students. Copyright AULA MEDICA EDICIONES 2014. Published by AULA MEDICA. All rights reserved.

Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.

PubMed

Bousfiha, Amale; Bakhchane, Amina; Charoute, Hicham; Detsouli, Mustapha; Rouba, Hassan; Charif, Majida; Lenaers, Guy; Barakat, Abdelhamid

2017-10-01

In the present work, we identified two novel compound heterozygote mutations in the GPR98 (G protein-coupled receptor 98) gene causing Usher syndrome. Whole-exome sequencing was performed to study the genetic causes of Usher syndrome in a Moroccan family with three affected siblings. We identify two novel compound heterozygote mutations (c.1054C > A, c.16544delT) in the GPR98 gene in the three affected siblings carrying post-linguale bilateral moderate hearing loss with normal vestibular functions and before installing visual disturbances. This is the first time that mutations in the GPR98 gene are described in the Moroccan deaf patients.

Epithelial IgG and its relationship to the loss of F508 in the common mutant form of the cystic fibrosis transmembrane conductance regulator.

PubMed

Treharne, Kate J; Cassidy, Diane; Goddard, Catharine; Colledge, William H; Cassidy, Andrew; Mehta, Anil

2009-08-06

The most debilitating feature of cystic fibrosis (CF) disease is uncontrolled inflammation of respiratory epithelium. The relationship between the commonest mutated form of CFTR (F508del or DeltaF508) and inflammation has not yet been elucidated. Here, we present a new paradigm suggesting that CFTR can interact with intra-epithelial IgG, establishing a direct link between normal CFTR and the immune system. Further, our data show that the amino-acid sequence local to F508 can bind IgG with high affinity, dependent on F508, such that loss of F508 abolishes this link both in vitro and in the intact cell.

Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia.

PubMed

Kim, Hee-Jung; Song, Min-Jung; Lee, Ki-O; Kim, Sun-Hee; Kim, Hee-Jin

2015-12-01

Severe congenital neutropenia (SCN) is a bone marrow failure disease with an autosomal dominant inheritance from mutations in ELANE. Here, we report a 7-week-old Korean male with SCN. His elder sister died from pneumonia at 2 years. Direct sequencing of ELANE in the proband identified a heterozygous novel frameshift mutation: c.658delC (p.Arg220Glyfs20*). Family study involving his asymptomatic parents with normal cell counts revealed that his father had the same mutation, but at a lower burden than expected in a typical heterozygous state. Further molecular investigation demonstrated somatic mosaicism with ~18% mutant alleles. We concluded the proband inherited the mutation from his somatic mosaic father. © 2015 Wiley Periodicals, Inc.

Acerca del moho

EPA Pesticide Factsheets

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

Misura de Massa e Larghezza degli Stati $$x_1$$ e $$x_2$$ del Charmonio Formati in Interazioni $$p - \\bar{p}$$

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).

Effects of pre-irradiation conditioning of Medfly pupae (Diptera: Tephritidae): Hypoxia and quality of sterile males

DOE Office of Scientific and Technical Information (OSTI.GOV)

Nestel, D.; Nemny-Lavy, E.; Islam, S.M.

Irradiation of pupae in sterile insect technique (SIT) projects is usually undertaken in hypoxic atmospheres, which have been shown to lessen the deleterious effects of irradiation on the quality of adult sterile flies. Although this is the accepted technology in most mass-rearing and sterilization facilities, to date no information has been generated on the actual levels of oxygen (O{sub 2}) in pupae-packing containers during irradiation. The present study utilized recently-developed technology to investigate the O{sub 2} level inside bags in which pupae of Mediterranean fruit fly (medfly) Ceratitis capitata (Wiedemann) are packed prior to irradiation, the ability of pupae tomore » create hypoxic environments in these bags, and the effect of O{sub 2} atmospheres on the quality of irradiated males. Pupae, 1 d before adult emergence, were shown to deplete the O{sub 2} level in sealed bags in approximately 1 h. The rate of O{sub 2} consumption was dependent upon pupal age and incubation temperature. Incubation temperature did not significantly affect the quality of pupae or mating capacity of resultant adult males if pupae were irradiated under maximal hypoxic conditions inside packing bags. In contrast, mating competitiveness drastically decreased when pupae were irradiated under ambient O{sub 2} conditions, with the packing bag open. There was no difference in the mating capacity of males when pupae were irradiated in sealed bags under either 10% or 2% O{sub 2} levels, or under maximal hypoxia. Normal doses of fluorescent dye, applied to pupae to mark sterile flies, did not affect the ability of pupae to create hypoxic conditions inside packing bags, nor the quality control parameters of either pupae or adults. Current practices in mass-rearing facilities are discussed in the light of these results. (author) [Spanish] La irradiacion de pupas en proyectos de mosca esteril usualmente se hace bajo condiciones de hipoxia. Esta condicion ha demostrado ser menos detrimente a la calidad de las moscas que la irradiacion en atmosferas con proporcion normal de oxigeno. Aunque esta ha sido por mucho tiempo parte del protocolo de irradiacion en plantas de produccion de mosca esteril, hasta ahora no se ha medido el contenido de oxigeno dentro de los recipientes de empaque de pupa durante la irradiacion. El presente estudio investigo los contenidos de O{sub 2} en los contenedores de pupas de la mosca de las frutas del Mediterraneo (Ceratitis capitata Wiedeman), la habilidad de pupas de crear hipoxia dentro de los contenedores, y los efectos del contenido de O{sub 2} durante la irradiacion del contenedor en la calidad y capacidad de apareamiento de moscas esteriles. Pupas de un dia antes de emerger como adultos crearon atmosferas de maxima hipoxia dentro del empaque en aproximadamente una hora. La proporcion de consumo de O{sub 2} en contenedores sellados es dependiente de la edad de la pupa, y de la temperatura de incubacion. La temperatura de incubacion no afecto significativamente la calidad ni la capacidad de apareamiento de machos derivados de pupas irradiadas bajo condiciones de hipoxia. Sin embargo, la capacidad de apareamiento de machos irradiados como pupas en contenedores abiertos y en condiciones oxigenadas fue drasticamente afectada. En comparacion a los resultados anteriores, atmosferas de 2% y 10% O{sub 2} durante la irradiacion no afectaron la capacidad de apareamiento de moscas esteriles. Polvo fluorescente, aplicado a pupas para marcar las moscas esteriles, no tuvo efectos sobre la capacidad de las pupas de crear hipoxia. Los resultados de este estudio se discuten en base a las practicas actuales de produccion e irradiacion. (author)« less

Interpretation of tracer tests performed in fractured rock of the Lange Bramke basin, Germany

NASA Astrophysics Data System (ADS)

Maloszewski, Piotr; Herrmann, Andreas; Zuber, Andrzej

Two multitracer tests performed in one of the major cross-fault zones of the Lange Bramke basin (Harz Mountains, Germany) confirm the dominant role of the fault zone in groundwater flow and solute transport. Tracers having different coefficients of molecular diffusion (deuterium, bromide, uranine, and eosine) yielded breakthrough curves that can only be explained by a model that couples the advective-dispersive transport in the fractures with the molecular diffusion exchange in the matrix. For the scale of the tests (maximum distance of 225m), an approximation was used in which the influence of adjacent fractures is neglected. That model yielded nearly the same rock and transport parameters for each tracer, which means that the single-fracture approximation is acceptable and that matrix diffusion plays an important role. The hydraulic conductivity of the fault zone obtained from the tracer tests is about 1.5×10-2m/s, whereas the regional hydraulic conductivity of the fractured rock mass is about 3×10-7m/s, as estimated from the tritium age and the matrix porosity of about 2%. These values show that the hydraulic conductivity along the fault is several orders of magnitude larger than that of the remaining fractured part of the aquifer, which confirms the dominant role of the fault zones as collectors of water and conductors of fast flow. Résumé Deux multitraçages ont été réalisés dans l'une des zones principales de failles du bassin de Lange Bramke (massif du Harz, Allemagne); les résultats confirment le rôle prédominant de la zone de failles pour l'écoulement souterrain et le transport de soluté. Les traceurs, possédant des coefficients de diffusion différents (deutérium, bromure, uranine et éosine), ont fourni des courbes de restitution qui ne peuvent être expliquées que par un modèle qui associe un transport advectif-dispersif dans les fractures à un échange par diffusion moléculaire dans la matrice. A l'échelle des expériences (distance maximale de 225m), l'influence des fractures adjacentes a été négligée. Ce modèle a fourni pour chaque traceur pratiquement les mêmes paramètres pour la roche et le transport, ce qui signifie que l'approximation de la fracture unique est acceptable et que la diffusion dans la matrice joue un rôle important. La conductivité hydraulique de la zone de faille fournie par les traçages est d'environ 1,5×10-2m/s, alors que la conductivité hydraulique régionale de la roche fracturée dans son ensemble est de l'ordre de 3×10-7m/s, selon l'estimation tirée des âges tritium et de la porosité de la matrice d'environ 2%. Ces valeurs montrent que la conductivité hydraulique le long de la faille est supérieure de plusieurs ordres de grandeur à celle de la partie fracturée restante de l'aquifère, ce qui confirme le rôle prédominant joué par les zones de failles comme drains de l'eau et comme axes d'écoulement rapide. Resumen Dos ensayos con múltiples trazadores realizados en una de las zonas más fracturadas de la cuenca de Lange Bramke (Montes Harz, Alemania) confirman el papel dominante de la zona de fractura en el flujo de agua subterránea y el transporte de solutos. Trazadores con distintos coeficientes de difusión molecular (deuterio, bromuro, uranina y eosina) dieron curvas de llegada que sólo pueden ser explicadas mediante un modelo que acople el transporte advectivo-dispersivo en las fracturas con la difusión en la matriz. Para la escala de los ensayos (distancia máxima de 225m), se usó como aproximación que la influencia de las fracturas adyacentes podía despreciarse. Este modelo dio lugar para cada trazador a valores muy similares de los parámetros de transporte, lo que supone que la aproximación de fractura única es aceptable y que la difusión en la matriz es un mecanismo importante. La conductividad hidráulica de la zona fracturada obtenida de los ensayos es de unos 1.5×10-2m/s, mientras que la conductividad hidráulica regional para la matriz rocosa es de unos 3×10-7m/s, valor estimado de la edad del tritio y la porosidad de la matriz es del 2%. Estos resultados indican que la conductividad hidráulica a lo largo de la fractura es varios órdenes de magnitud mayor que la correspondiente al resto de la parte fracturada del acuífero, lo que confirma el papel dominante de las fracturas como zonas conductoras preferentes de agua.

Diagnosis and medical treatment of neuropathic pain in leprosy.

PubMed

Arco, Rogerio Del; Nardi, Susilene Maria Tonelli; Bassi, Thiago Gasperini; Paschoal, Vania Del Arco

2016-08-08

to identify the difficulties in diagnosing and treating neuropathic pain caused by leprosy and to understand the main characteristics of this situation. 85 patients were treated in outpatient units with reference to leprosy and the accompanying pain. We used a questionnaire known as the Douleur Neuropathic 4 test and we conducted detailed neurological exams. As a result, 42 patients were excluded from the study for not having proved their pain. Out of the 37 patients that experienced pain, 22 (59.5%) had neuropathic pain (or a mixture of this pain and their existing pain) and of these 90.8% considered this pain to be moderate or severe. 81.8% of the sample suffered with this pain for more than 6 months. Only 12 (54.5%) of the patients had been diagnosed with neuropathic pain and in almost half of these cases, this pain had not been diagnosed. With reference to medical treatment (n=12) for neuropathic pain, 5 (41.6%) responded that they became better. For the other 7 (58.4%) there were no changes in relation to the pain or in some cases the pain worsened in comparison to their previous state. Statistical analysis comparing improvements in relation to the pain amongst the patients that were treated (n=12) and those that were not, showed significant differences (value p=0.020). we noted difficulties in diagnosing neuropathic pain for leprosy in that almost half of the patients that were studied had not had their pain diagnosed. We attributed this to some factors such as the non-adoption of the appropriate protocols which led to inadequate diagnosis and treatment that overlooked the true picture. identificar as dificuldades em diagnosticar e tratar a dor neuropática causada pela hanseníase, bem como determinar as características principais dessa situação. examinaram-se 85 pacientes tratados no ambulatório de referência para hanseníase e referiam dor. Aplicou-se questionário, o teste Douleur Neuropathic 4, e criterioso exame neurológico pelo qual excluíram-se 42 pacientes por não se comprovar dor. dos 37 pacientes com dor, 22 (59,5%) tinham Douleur Neuropathic ou mista e, desses, 90,8% caracterizavam essa dor como de intensidade moderada ou severa, sendo que 81,8% sofriam por mais de 6 meses. Apenas 12 (54,5%) pacientes haviam sido diagnosticados com Douleur Neuropathic e quase metade dos casos (45,5%) estava sem reconhecimento. Quanto ao tratamento medicamentoso (n=12) para a Douleur Neuropathic, 5 (41,6%) responderam que tiveram melhora, nos outros 7 (58,4%) não houve alteração da dor ou pioraram quando se comparou ao quadro inicial. A análise estatística, comparando a melhora da dor entre os pacientes tratados (n=12) e aqueles não tratados (n=10), foi significante (valor-p=0,020). identificou-se dificuldade em diagnosticar a dor neuropática em hanseníase, haja vista que quase metade dos pacientes estudados estava sem reconhecimento desse quadro. Atribuíram-se, como fatores associados, a não adoção de protocolo apropriado para efetivo diagnóstico e tratamentos inadequados que podem mascarar o quadro. identificar las dificultades de diagnosticar y tratar el dolor neuropático causado por la lepra, así como determinar las características principales de esa situación. se examinaron 85 pacientes tratados en ambulatorio de referencia para lepra y que refirieron dolor. Se aplicó el cuestionario test Douleur Neuropathic 4, y se hizo un minucioso examen neurológico a través del cual se excluyeron 42 pacientes por no haberse comprobado dolor. de los 37 pacientes con dolor, 22 (59,5%) tenían dolor neuropático o mixto y, de esos, 90,8% caracterizaban ese dolor como de intensidad moderada o severa, siendo que 81,8% sufrían de él hace más de 6 meses. Apenas 12 (54,5%) pacientes habían sido diagnosticados con dolor neuropático y casi mitad de los casos (45,5%) estaba sin reconocimiento. En cuanto al tratamiento medicamentoso (n=12) para el dolor neuropático, 5 (41,6%) respondieron que tuvieron mejoría; en los otros 7 (58,4%) no hubo alteración del dolor o empeoraron cuando se comparó con el cuadro inicial. El análisis estadístico, comparando la mejoría del dolor entre los pacientes tratados (n=12) y aquellos no tratados (n=10), fue significativa (valor-p=0,020). se identificó dificultad en diagnosticar el dolor neuropático en la lepra, considerando que casi la mitad de los pacientes estudiados estaban sin reconocimiento de ese cuadro. Se atribuyeron como factores asociados la no adopción de protocolo apropiado para un efectivo diagnóstico y tratamientos inadecuados que pudieron haber enmascarar el cuadro.

Schooled Mathematics and Cultural Knowledge.

ERIC Educational Resources Information Center

de Abreu, Guida; Cline, Tony

2003-01-01

Asserts that recognition of the cultural nature of schooled mathematics requires research that locates these practices in the sociopolitical context and provides an account of the social valorization of mathematical practices and the impact on learning. Using data on students in multiethnic English elementary schools, the article proposes how the…

The Marine Corps Schools: Driving Institutional Change Towards the Second World War

DTIC Science & Technology

2014-05-22

Corps became identified and legitimated externally in the broader society as small war specialists. As American commercial and missionary interest...Soissons, St. Mihiel, Blanc Mont Ridge , and the Muese-Argonne were reflections of both professional steadiness and personal valor. The press reports

Philosophy Because the World Matters

ERIC Educational Resources Information Center

Reeve, Hester

2017-01-01

"Philosophy Because the World Matters" promotes a valorization of philosophy as a practice able to activate an individual's relationship making to "having a life" and, in turn, to allow the unfolding self-illumination (qua onto-ethical capacity) to effect a constructive world-thinking and hence world-building with others. These…

Stolen Valor Act of 2013

THOMAS, 113th Congress

Sen. Heller, Dean [R-NV

2013-02-04

Senate - 02/04/2013 Read twice and referred to the Committee on the Judiciary. (All Actions) Notes: For further action, see H.R.258, which became Public Law 113-12 on 6/3/2013. Tracker: This bill has the status IntroducedHere are the steps for Status of Legislation:

Capitalism, Academic Style, and Shared Governance

ERIC Educational Resources Information Center

Rhoades, Gary

2005-01-01

In "Academic Capitalism and the New Economy," the author, and her colleague, Sheila Slaughter, describe a cultural system that valorizes higher education's dual economic roles: generating revenue for academic institutions and producing knowledge and wealth to boost the global competitiveness of corporations. This system depends on a mode of…

Patient safety in organizational culture as perceived by leaderships of hospital institutions with different types of administration.

PubMed

Silva, Natasha Dejigov Monteiro da; Barbosa, Antonio Pires; Padilha, Kátia Grillo; Malik, Ana Maria

2016-01-01

To identify the perceptions of leaderships toward patient safety culture dimensions in the routine of hospitals with different administrative profiles: government, social and private organizations, and make correlations among participating institutions regarding dimensions of patient safety culture used. A quantitative cross-sectional study that used the Self Assessment Questionnaire 30 translated into Portuguese. The data were processed by analysis of variance (ANOVA) in addition to descriptive statistics, with statistical significance set at p-value ≤ 0.05. According to the participants' perceptions, the significant dimensions of patient safety culture were 'patient safety climate' and 'organizational learning', with 81% explanatory power. Mean scores showed that among private organizations, higher values were attributed to statements; however, the correlation between dimensions was stronger among government hospitals. Different hospital organizations present distinct values for each dimension of patient safety culture and their investigation enables professionals to identify which dimensions need to be introduced or improved to increase patient safety. Identificar percepções das lideranças sobre as dimensões da cultura de segurança do paciente no cotidiano de hospitais de diferentes perfis administrativos: públicos, organizações sociais e privados, e realizar correlação entre as instituições participantes, de acordo com as dimensões da cultura de segurança do paciente utilizadas. Estudo transversal de aspecto quantitativo obtido por meio da aplicação do instrumento Self Assessment Questionnaire 30, traduzido para a língua portuguesa. Os dados foram tratados com análise de variância (ANOVA), além das estatísticas descritivas, considerando como de significância estatística valores de p-valor ≤ 0,05. Segundo a percepção dos participantes do estudo, as dimensões significativas para a cultura de segurança do paciente foram Ambiente de Segurança do Paciente e Aprendizado Organizacional, com poder explicativo de 81%. A média de respostas obtidas evidenciou que nas organizações privadas houve maiores valores atribuídos às questões, porém a correlação entre as dimensões foi mais forte nas organizações públicas. As dimensões da cultura de segurança do paciente têm valores distintos nas diferentes organizações hospitalares e a sua investigação possibilita identificar quais necessitam ser introduzidas ou aprimoradas para maior segurança do paciente.

Dissection of Insertion–Deletion Variants within Differentially Expressed Genes Involved in Wood Formation in Populus

PubMed Central

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

An evaluation of Delaware's DelTrac program : building an integrated transportation management system

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.

DTIC Science & Technology

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

Pseudomonas aeruginosa Reduces VX-809 Stimulated F508del-CFTR Chloride Secretion by Airway Epithelial Cells

PubMed Central

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

Pseudomonas aeruginosa Reduces VX-809 Stimulated F508del-CFTR Chloride Secretion by Airway Epithelial Cells.

PubMed

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.

Efectos combinados de la ampliación de la atención primaria de salud y de las transferencias condicionadas de dinero en efectivo sobre la mortalidad infantil en Brasil, 1998–2010*

PubMed Central

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.

Analisis del contenido curricular de los Documentos Normativos del Programa de Ciencias en el area de biologia para la escuela superior del sistema de educacion publica de Puerto Rico: 1993-2012

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.

Increasing the Endoplasmic Reticulum Pool of the F508del Allele of the Cystic Fibrosis Transmembrane Conductance Regulator Leads to Greater Folding Correction by Small Molecule Therapeutics.

PubMed

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.

An experiment of formation of charmoni states in annihilation P-Pbarra. Un esperimento di formazione di stati del charmonio in annichilazione P-Pbarra (in Italian)

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

Oh to Be Rid of Administrative Wimps!

ERIC Educational Resources Information Center

Weissberg, Robert

2007-01-01

Contemporary university administrators are usually wimps, and timidity in facing easily enraged campus radicals only invites outrageous demands which, in turn, subvert intellectual life. This must be changed. For much of human history leaders had to display physical valor and this trait should be restored to the college administrator job…

Space and Language Learning under the Neoliberal Economy

ERIC Educational Resources Information Center

Gao, Shaung; Park, Joseph Sung-Yul

2015-01-01

Neoliberalism, as an ideology that valorizes and institutionalizes market-based freedom and individual entrepreneurship, derives from the logic of highly advanced capitalism, and thus must be understood in relation to the material conditions of our capitalist economy. One such material condition is space. However, the intersection of space and…

Middle-Class Mothers on Urban School Selection in Gentrifying Areas

ERIC Educational Resources Information Center

Roberts, Amy; Lakes, Richard D.

2016-01-01

This study examined middle-class mothers' engagement in urban school selection as residents of two gentrifying neighborhoods in Atlanta, Georgia. Gentrifiers levy social capital when activating or exercising agency and create social networks that valorize child-rearing concerns through exchange of information. Thirty mothers with children under…

Valorization of guayule as a feedstock for lignocellulosic biorefineries using ammonia fiber expansion (AFEX) pretreatment

USDA-ARS?s Scientific Manuscript database

Natural rubber latex extraction from guayule leaves behind greater than 80% (by weight) of agricultural residue as a feedstock suitable for conversion to biofuels via a thermochemical or biochemical route. Untreated guayule shrub and bagasse (after latex extraction) has shown to be very recalcitrant...

The Glass Ceiling for Remotely Piloted Aircraft

DTIC Science & Technology

2013-08-01

who by valorous ways become princes , like these men, acquire a prin- cipality with difficulty, but they keep it with ease. —Niccolò Machiavelli , 1513...Though written 500 years ago, Machiavelli’s The Prince remains a seminal treatise on the art of acquiring and maintaining politi-cal power. The book

Watching as Working: The Valorization of Audience Consciousness.

ERIC Educational Resources Information Center

Jhally, Sut; Livant, Bill

1986-01-01

Explores the argument that television exemplifies the production and reflection of surplus value and that watching, as an activity, reflects the organization of human labor in the economy as a whole. Develops the basis for a materialist theory of the advertising-supported media industries in advanced industrial societies. (JD)

Faculties of Education and Institutional Strategies for Knowledge Mobilization: An Exploratory Study

ERIC Educational Resources Information Center

Sa, Creso M.; Li, Sharon X.; Faubert, Brenton

2011-01-01

The goal to enhance the impacts of academic research in the "real world" resonates with progressive visions of the role of universities in society, and finds support among policy makers who have sought to enhance the "transfer", "translation", "uptake", or "valorization" of research knowledge in…

Cosmic Sense, Sensibility, and Written Expression: From Childhood to Adolescence.

ERIC Educational Resources Information Center

Kahn, David

2001-01-01

Compares and connects the cosmic awareness emerging in the elementary classroom to adolescent cosmic sensibility embedded in the experience of the Hershey Montessori Farm School. Provides examples of students' poetry to support Montessori's concept of valorization of personality as each individual turns toward maturity. (Author/TJQ)

Cirugía transnasal endoscópica para tumores de hipófisis

PubMed Central

Ajler, Pablo; Hem, Santiago; Goldschmidt, Ezequiel; Landriel, Federico; Campero, Alvaro; Yampolsky, Claudio; Carrizo, Antonio

2012-01-01

Introducción: Exponer la técnica utilizada y los resultados obtenidos en los primeros 52 pacientes portadores de tumores hipofisarios tratados por la vía endoscópica transnasal en el Hospital Italiano de Buenos Aires Métodos: Se llevó a cabo un análisis retrospectivo de 52 cirugías endoscópicas transnasales utilizadas en el tratamiento de tumores hipofisários. Las mismas fueron realizadas en el Hospital Italiano de Buenos Aires durante el período junio del 2011 a junio del 2012. Se analizaron las características demográficas de los pacientes, la patología de base y la morbimortalidad asociada a la cirugía. Resultados: La edad media de los pacientes fue de 41,52 años con un rango de 18-79. La distribución fue similar entre hombres y mujeres. Las patologías más frecuentes fueron: adenomas no funcionantes (40.4%), tumores productores de GH/Acromegalia (25%) y tumores productores de ACTH/Enfermedad de Cushing (23.1%). Aproximadamente el 70 % correspondieron a macroadenomas. Sólo un paciente presentó complicaciones. No se registro ningún óbito. Conclusión: Si bien podremos objetivar fehacientemente resultados más concluyentes en futuros trabajos, podemos decir a priori que, en la endoscopía el detalle anatómico es claramente superior al microscópico y que la posibilidad de la introducción del endoscopio en la silla turca permite la visualización directa de remanentes tumorales, de sitios de fístula y como así también de la glándula normal, ventajas que potencialmente podrían permitir obtener mejores resultados quirúrgicos, en términos de control de la enfermedad y tasa de complicaciones. PMID:23596553

Soil management effect on soil quality indicators in vineyards of the Appellation of Origin "Montilla-Moriles" in southern Spain

NASA Astrophysics Data System (ADS)

Guzmán, Gema; Cabezas, José Manuel; Bauer, Thomas; Strauss, Peter; Winter, Silvia; Zaller, Johann; Gómez, José Alfonso

2017-04-01

The effect soil management on several indicators frequently used in the assessment of soil quality it is not always reflected unambiguously when measured at the field although it is normally assumed that this relation is straightforward. Within the European project VineDivers (www.vinedivers.eu), sixteen commercial vineyards belonging to the Appellation of Origin "Montilla-Moriles" (Córdoba) and covering a wide range of textural classes were selected. These farms were classified 'a priori' under two soil management categories: temporal cover crop and bare soil during the whole year. In each of the vineyards one representative inter-row was selected in order to characterise different physical, chemical and biological parameters to evaluate some aspects related to soil quality. Results indicate that the studied indicators respond clearly to soil textural class and vegetation cover biomass. However, there was no clear difference in above-ground biomass of the two management categories (Guzmán et al., 2016). These results suggest that the interpretation and extrapolation of the indicators evaluated should incorporate complementary information to characterise small variations of soil management intensity among vineyards that are apparently managed under the same management category. The communication presents this analysis based on the number and type of soil disturbance events of all vineyards. The high variability found among vineyards under the same management highlights the relevance of measuring these soil parameters used as quality indicators, instead of extrapolating from other vineyards or agricultural systems, and interpreting them according to baseline levels. References: Guzmán G., Cabezas J.M., Gómez J.A. 2016. Evaluación preliminar del efecto del manejo del suelo en indicadores que determinan su calidad en viñedos de la Denominación de Origen Montilla Moriles. II Jornadas de Viticultura SECH. Madrid.

Relict chondrules in primitive achondrites: Remnants from their precursor parent bodies

NASA Astrophysics Data System (ADS)

Schrader, Devin L.; McCoy, Timothy J.; Gardner-Vandy, Kathryn

2017-05-01

We studied the petrography, analyzed the chemical compositions, constrained the closure temperatures (via geothermometry), and determined the oxidation states of relict chondrules in Campo del Cielo (IAB iron meteorite), Graves Nunataks (GRA) 98028 (acapulcoite), and Netschaëvo (IIE iron meteorite) to constrain their formation conditions and investigate links to known meteorite groups. Despite having been thermally metamorphosed, mineral phases within relict chondrules retain information about their precursor compositions. The sizes and textures of relict chondrules, and silicate and chromite compositions indicate that Campo del Cielo, GRA 98028, and Netschaëvo had distinct parent bodies that were similar to, but different from, known chondrite groups. To determine the utility of relict chondrule sizes in thermally metamorphosed meteorites, we determined the chondrule size distributions in the LL chondrites Semarkona (LL3.00), Soko-Banja (LL4), Siena (LL5), and Saint-Séverin (LL6), and the H chondrites Clovis (No. 1) (H3.6), Kesen (H4), Arbol Solo (H5), and Estacado (H6). As expected, mean chondrule diameters increase with degree of thermal metamorphism. We find that Campo del Cielo and GRA 98028 were reduced during thermal metamorphism, consistent with previous studies, indicating that their precursors were initially more FeO-rich than their current compositions. In contrast to previous studies, we find no evidence for reduction of silicates in Netschaëvo. Normal zoning of olivine in Netschaëvo is consistent with crystallization and suggests its silicates are near their primary FeO-contents. The presence of elongated chromite grains along olivine grain boundaries in Netschaëvo indicates formation during thermal metamorphism under oxidizing conditions. Due to the absence of reduction and the composition of chromite being distinct from that of metamorphosed H chondrites, we conclude that Netschaëvo, and by extension the IIE iron meteorites, are not from the H chondrite parent body.

Regulation and Function of TIFAB in Myelodysplastic Syndrome

DTIC Science & Technology

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

[In Process Citation].

PubMed

Wang, Bingsong; Li, Yijun; Wu, Xiaolu; Liu, Qingqing; Tang, Xue; Wang, Zuo

2016-03-25

Objetivos: oligoelementos como zinc (Zn), hierro (Fe) y cobre (Cu) tienen una influencia significativa en el mantenimiento de la función inmune y del metabolismo normales; modulan la función immune e influyen en la susceptibilidad del organismo ante infecciones. Pero la relación entre trazas de estos elementos y la bronconeumonía resultó incierta. Métodos: en este estudio fueron incluidos 28 niños con bronconeumonía y 46 niños sanos agrupados por edad. Se determinaron los niveles de Zn, Cu, Fe, calcio (Ca) y/o magnesio (Mg) en el suero de los niños con bronconeumonía y sin ella mediante espectrofotometría de absorción atómica. Resultados: los resultados muestran que varios niveles de microelementos como Zn, Ca, Mg y Fe en el grupo con bronconeumonía son menores que en el grupo control. En el grupo de niños con bronconeumonía el nivel de Ca en el suero está asociado positivamente con el zinc (Zn) (p < 0,05) y el hierro (Fe) (p < 0,05), mientras que hay una correlación positiva entre el cobre (Cu) y el calcio (Ca) (p < 0,05), magnesio (mg) (p < 0,05). Conclusión: el nivel de oligoelemento en el suero puede estar asociado con el riesgo de bronconeumonía entre los niños.

Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.

PubMed

Ponti, G; Ponz de Leon, M; Maffei, S; Pedroni, M; Losi, L; Di Gregorio, C; Gismondi, V; Scarselli, A; Benatti, P; Roncari, B; Seidenari, S; Pellacani, G; Varotti, C; Prete, E; Varesco, L; Roncucci, L

2005-11-01

Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.Peculiar dermatologic manifestations are present in several heritable gastrointestinal disorders. Muir-Torre syndrome (MTS) is a genodermatosis whose peculiar feature is the presence of sebaceous gland tumors associated with visceral malignancies. We describe one patient in whom multiple sebaceous gland tumors were associated with early onset colon and thyroid cancers and attenuated polyposis coli. Her family history was positive for colonic adenomas. She had a daughter presenting with yellow papules in the forehead region developed in the late infancy. Skin and visceral neoplasms were tested for microsatellite instability and immunohistochemical status of mismatch repair (MMR), APC and MYH proteins. The proband colon and skin tumors were microsatellite stable and showed normal expression of MMR proteins. Cytoplasmic expression of MYH protein was revealed in colonic cancer cells. Compound heterozygosity due to biallelic mutations in MYH, R168H and 379delC, was identified in the proband. The 11-year-old daughter was carrier of the monoallelic constitutional mutation 379delC in the MYH gene; in the sister, the R168H MYH gene mutation was detected. This report presents an interesting case of association between MYH-associated polyposis and sebaceous gland tumors. These findings suggest that patients with MTS phenotype that include colonic polyposis should be screened for MYH gene mutations.

A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

PubMed

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.

[Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics].

PubMed

Tsygankova, P G; Mikhaĭlova, S V; Zakharova, E Iu; Pichkur, N A; Il'ina, E S; Nikolaeva, E A; Rudenskaia, G E; Dadali, E L; Kolpakchi, L M; Fedoniuk, I D; Matiushchenko, G N

2010-01-01

Syndrome Leigh (SL) or subacute necrotizing encephalomyelopathy - is a rare hereditary genetically heterogeneous disease from the group of mitochondrial encephalomyopathies. Twenty-seven children with SL were examined using clinical, laboratory (measuring lactate levels), MRI and molecular-genetic (polymerase chain reaction genotyping of 9 exons of the SURF1 gene) studies. The mean age of manifestation was 11,6 months. The main manifestations of SL were: delay of psychomotor development, diffuse muscle hypertonic, cerebellar syndrome, ophthalmoparesis, hypertrichosis. The disease had a progressive course with the loss of acquired skills. The blood lactate concentration was increased on average up to 3,1 mM/ml (from 1,9 to 5,1 mM/ml) compared to normal values (1,8 mM/ml). Brain MRI revealed the subcortical and cortical atrophy (80% of cases), symmetrical distinctly delineated hyperintense lesions on T2-weighted images (demyelization) in the basal ganglia and the brain stem (50%), as well as in the cerebellum (25%). Genotyping identified 7 different mutations. The most frequent (64,8%) was the deletion of 2 nucleotides (845delCT) in exon 8 that was in line with early data of Polish researchers thus indicating the Slavic origin of this mutation. Other mutations (574-575insCTGT, 311-321del10insAT and IVS8-1G>) were also frequent in the Russian population.

Cytogenetic abnormalities and their prognostic significance in idiopathic myelofibrosis: a study of 106 cases.

PubMed

Reilly, J T; Snowden, J A; Spearing, R L; Fitzgerald, P M; Jones, N; Watmore, A; Potter, A

1997-07-01

The prognostic significance of cytogenetic abnormalities was determined in 106 patients with well-characterized idiopathic myelofibrosis who were successfully karyotyped at diagnosis. 35% of the cases exhibited a clonal abnormality (37/106), whereas 65% (69/106) had a normal karyotype. Three characteristic defects, namely del(13q) (nine cases), del(20q) (eight cases) and partial trisomy 1q (seven cases), were present in 64.8% (24/37) of patients with clonal abnormalities. Kaplan-Meier plots and log rank analysis demonstrated an abnormal karyotype to be an adverse prognostic variable (P<0.001). Of the eight additional clinical and haematological parameters recorded at diagnosis, age (P<0.01), anaemia (haemoglobin < or = 10 g/dl: P<0.001), platelet (< or = 100 x 10(9)/l, P<0.0001) and leucocyte count (> 10.3 x 10(9)/l; P=0.06) were also associated with a shorter survival. In contrast, sex, spleen and liver size, and percentage blast cells were not found to be significant. Multivariate analysis, using Cox's regression, revealed karyotype, haemoglobin concentration, platelet and leucocyte counts to retain their unfavourable prognostic significance. A simple and useful schema for predicting survival in idiopathic myelofibrosis has been produced by combining age, haemoglobin concentration and karyotype with median survival times varying from 180 months (good-risk group) to 16 months (poor-risk group).

De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.

PubMed

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.

Groundwater and climate change: a sensitivity analysis for the Grand Forks aquifer, southern British Columbia, Canada

NASA Astrophysics Data System (ADS)

Allen, D. M.; Mackie, D. C.; Wei, M.

The Grand Forks aquifer, located in south-central British Columbia, Canada was used as a case study area for modeling the sensitivity of an aquifer to changes in recharge and river stage consistent with projected climate-change scenarios for the region. Results suggest that variations in recharge to the aquifer under the different climate-change scenarios, modeled under steady-state conditions, have a much smaller impact on the groundwater system than changes in river-stage elevation of the Kettle and Granby Rivers, which flow through the valley. All simulations showed relatively small changes in the overall configuration of the water table and general direction of groundwater flow. High-recharge and low-recharge simulations resulted in approximately a +0.05 m increase and a -0.025 m decrease, respectively, in water-table elevations throughout the aquifer. Simulated changes in river-stage elevation, to reflect higher-than-peak-flow levels (by 20 and 50%), resulted in average changes in the water-table elevation of 2.72 and 3.45 m, respectively. Simulated changes in river-stage elevation, to reflect lower-than-baseflow levels (by 20 and 50%), resulted in average changes in the water-table elevation of -0.48 and -2.10 m, respectively. Current observed water-table elevations in the valley are consistent with an average river-stage elevation (between current baseflow and peak-flow stages). L'aquifère de Grand Forks, situé en Colombie britannique (Canada), a été utilisé comme zone d'étude pour modéliser la sensibilité d'un aquifère à des modifications de la recharge et du niveau de la rivière, correspondant à des scénarios envisagés de changement climatique dans cette région. Les résultats font apparaître que les variations de recharge de l'aquifère pour différents scénarios de changement climatique, modélisées pour des conditions de régime permanent, ont un impact sur le système aquifère beaucoup plus faible que les changements du niveau des rivières Kettle et Granby, qui coulent dans la vallée. Toutes les simulations ont montré des différences relativement faibles dans la configuration d'ensemble de la nappe et dans la direction générale des écoulements. Des simulations de conditions de recharge forte et de recharge faible produisent respectivement une remontée de 0,05 m et un abaissement de 0,025 m, approximativement, des cotes de la nappe pour l'ensemble de l'aquifère. Des changements simulés de la cote du niveau de la rivière, pour refléter des niveaux plus hauts que ceux des pics de crues (de 20 et de 50%), produisent respectivement des remontées de la nappe de 2,72 et 3,45 m en moyenne. Des changements simulés de l'altitude du niveau de la rivière, pour refléter des niveaux plus bas que ceux de basses eaux (de 20 et de 50%), produisent respectivement des abaissements de la nappe de 0,48 et 2,10 m en moyenne. Les altitudes courantes observées de la nappe dans la vallée sont cohérentes avec une cote moyenne du niveau de la rivière (entre les niveaux courants de basses eaux et de crues). El acuífero de los Grand Forks, situado al sur de la Columbia Británica central (Canadá) ha sido utilizado como lugar de estudio para modelar la sensibilidad de un acuífero a los cambios en la recarga y el caudal de los ríos de acuerdo con escenarios previstos de cambio climático en la región. Los resultados sugieren que las variaciones en la recarga al acuífero bajo los diversos escenarios, que han sido modelados en régimen estacionario, tienen un impacto mucho menor en las aguas subterráneas que los cambios en el caudal de los ríos Kettle y Granby, que discurren por el valle. Todas las simulaciones muestran diferencias relativamente pequeñas en la configuración regional de los niveles freáticos y en la dirección general del flujo subterráneo. Las simulaciones de recarga elevada y baja causan un incremento de 0,05 m y un decremento de 0,025 m, respectivamente, en los niveles del acuífero. Los cambios de la elevación del río, simulados para reflejar niveles de flujo mayores que los valores pico (en un 20% y un 50%) resultan en cambios medios de los niveles del acuífero de 2,72 m y 3,45 m, respectivamente. Los cambios simulados en la elevación del río para flujos inferiores al caudal de base (en un 20% y en un 50%) provocan descensos en los niveles de 0,48 y 2,10 m, respectivamente. Los niveles actuales del acuífero en el valle son coherentes con una elevación media del nivel en el río (entre el caudal de base actual y los picos de caudal).

Healthy aging profile in octogenarians in Brazil.

PubMed

Campos, Ana Cristina Viana; Ferreira, Efigênia Ferreira E; Vargas, Andréa Maria Duarte; Gonçalves, Lúcia Hisako Takase

2016-08-29

to identify the healthy aging profile in octogenarians in Brazil. this population-based epidemiological study was conducted using household interviews of 335 octogenarians in a Brazilian municipality. The decision-tree model was used to assess the healthy aging profile in relation to the socioeconomic characteristics evaluated at baseline. All of the tests used a p-value < 0.05. the majority of the 335 participating older adults were women (62.1%), were aged between 80 and 84 years (50.4%), were widowed (53.4%), were illiterate (59.1%), had a monthly income of less than one minimum wage (59.1%), were retired (85.7%), lived with their spouse (63.8%), did not have a caregiver (60.3%), had two or more children (82.7%), and had two or more grandchildren (78.8%). The results indicate three age groups with a healthier aging profile: older adults aged 80 to 84 years (55.6%), older adults aged 85 years and older who are married (64.9%), and older adults aged 85 and older who do not have a partner or a caregiver (54.2%). the healthy aging profile of octogenarians can be explained by age group, marital status, and the presence of a caregiver. identificar o perfil do envelhecimento saudável de idosos brasileiros octogenários. estudo epidemiológico de base populacional, conduzido por meio de entrevista domiciliar em um município brasileiro, num recorte com 335 idosos octogenários. O modelo de árvore de decisão foi utilizado para analisar o perfil de envelhecimento saudável em relação às características socioeconômicas avaliadas na linha base. Todos os testes consideraram o valor p<0,05. entre os 335 idosos que participaram deste estudo, a maioria era do sexo feminino (62,1%), idade entre 80 e 84 anos (50,4%), viúvo (53,4%), analfabeto (59,1%), com renda mensal inferior a um salário-mínimo (59,1%); eram aposentados (85,7%), morando com cônjuge (63,8%), sem cuidador (60,3%), com dois ou mais filhos (82,7%) e dois ou mais netos (78,8%). Os resultados indicam três grupos com perfil de envelhecimento mais saudável: idosos com 80-84 anos (55,6%), idosos com 85 anos e mais, casados (64,9%) e idosos com 85 anos e mais, sem companheiro e também sem cuidador (54,2%). o perfil de envelhecimento saudável de octogenários pôde ser explicado pela faixa etária, estado civil e presença de cuidador. identificar el perfil de envejecimiento saludable de octogenarios brasileños. estudio epidemiológico de base poblacional que se llevó a cabo por medio de entrevistas domiciliarias en un municipio brasileño con una muestra de 335 octogenarios. Se utilizó un modelo de árbol de decisiones para analizar el perfil de envejecimiento saludable en relación a las características socioeconómicas evaluadas al inicio del estudio. Todos las pruebas consideraron un valor de p<0,05. entre los 335 adultos mayores participantes, la mayoría eran mujeres (62,1%), edades comprendidas entre 80 y 84 años (50,4%), viudos (53,4%), analfabetos (59,1 %), con ingreso mensual inferior del salario mínimo (59,1%), jubilados (85,7%), viviendo con el cónyuge (63,8%), sin cuidador (60,3%), con dos o más hijos (82,7%), y dos o más nietos (78,8%). Los resultados indican tres grupos de edad con perfil de envejecimiento más saludable: adultos mayores de 80-84 años (55,6%), adultos mayores con 85 años o más y casados (64,9%), y adultos mayores con 85 años o más sin pareja y ni cuidador (54,2%). el perfil de envejecimiento saludable de octogenarios se puede explicar por el grupo etario, el estado civil y la presencia de un cuidador.

Evaluation of the telephone intervention in the promotion of diabetes self-care: a randomized clinical trial.

PubMed

Fernandes, Bárbara Sgarbi Morgan; Reis, Ilka Afonso; Torres, Heloisa de Carvalho

2016-08-29

to evaluate the effectiveness of the telephone intervention for promoting self-care related to physical activity and following a diet plan in users with diabetes, compared to conventional monitoring of users over a six-month period. this was a randomized clinical trial, which included 210 users with diabetes, linked to eight Primary Health Units of Belo Horizonte, Minas Gerais. The experimental group (104 members) received six telephone interventions over the six-month monitoring; the control group (106 members) received conventional monitoring. To evaluate the self-care practices related to physical activity and following a healthy eating plan, in both groups, the self-care questionnaire was applied before the intervention and at three and six months after its start. the mean effect of self-care scores in the experimental group was 1.03 to 1.78 higher than the control group, with progressive and significant improvement (p<0.001). the results indicate that the telephone intervention had a beneficial effect on diabetes self-care. The primary identifier of the clinical trials registry was: RBR-8wx7qb. avaliar a efetividade da intervenção telefônica na promoção do autocuidado relacionado à atividade física e ao seguimento de um plano alimentar, em usuários com diabetes, quando comparada ao acompanhamento convencional dos usuários, durante o período de seis meses. trata-se de um ensaio clínico randomizado, no qual participaram 210 usuários com diabetes, vinculados a oito Unidades Básicas de Saúde de Belo Horizonte, Minas Gerais. O grupo-experimental (104 usuários) recebeu seis intervenções telefônicas em seis meses de acompanhamento; o grupo-controle (106 usuários) recebeu acompanhamento convencional. Para avaliar as práticas de autocuidado, relacionada à atividade física e ao seguimento do plano alimentar saudável, em ambos os grupos, aplicou-se o questionário de autocuidado antes das intervenções, três e seis meses após o seu início. o efeito médio dos escores de autocuidado no grupo-experimental a pontuação foi de 1,03 a 1,78 maior do que o grupo-controle, apresentando melhora progressiva e significativa (valor-p<0,001). os resultados apontam que a intervenção telefônica tem efeito benéfico sobre o autocuidado em diabetes. O registro clínico obteve identificador primário: RBR-8wx7qb. evaluar la efectividad de la intervención telefónica en la promoción del autocuidado relacionado a la actividad física y al seguimiento de un plan alimentario, en usuarios con diabetes, cuando comparada al acompañamiento convencional de los usuarios, durante el período de seis meses. se trata de un ensayo clínico aleatorio, en el cual participaron 210 usuarios con diabetes, vinculados a ocho Unidades Básicas de la Salud de Belo Horizonte, Minas Gerais. El grupo experimental (104 usuarios) recibió seis intervenciones telefónicas en seis meses de acompañamiento; el grupo control (106 usuarios) recibió acompañamiento convencional. Para evaluar las prácticas de autocuidado, relacionadas a la actividad física y al seguimiento del plan alimentario saludable, en los dos grupos, se aplicó el cuestionario de autocuidado antes de las intervenciones, tres y seis meses después de su inicio. el efecto promedio de los puntajes de autocuidado en el grupo experimental fue de 1,03 a 1,78 mayor que el grupo control, presentando mejoría progresiva y significativa (valor-p<0,001). los resultados apuntan que la intervención telefónica tiene efecto benéfico sobre el autocuidado en diabetes. El registro clínico obtuvo identificador primario: RBR-8wx7qb.

Kurt Gödels Brünner Verwandte

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

DTIC Science & Technology

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 (

Longitudinal hemodynamics in acute phase of treatment with labetalol in hypertensive pregnant women to predict need for vasodilatory therapy.

PubMed

Stott, D; Bolten, M; Paraschiv, D; Papastefanou, I; Chambers, J B; Kametas, N A

2017-01-01

Hypertensive pregnant women who do not respond to treatment with labetalol to control blood pressure (BP), but require vasodilatory therapy, progress rapidly to severe hypertension. This could be delayed by early recognition and individualized treatment. In this study, we sought to create prediction models from data at presentation and at 1 h and 24 h after commencement of treatment to identify patients who will not have a sustained response to labetalol and therefore need vasodilatory therapy. The study population comprised 134 women presenting with hypertension at a UK hospital. Treatment with oral labetalol was administered when BP was > 150/100 mmHg or > 140/90 mmHg with systemic disease. BP and hemodynamic parameters were recorded at presentation and at 1 h and 24 h after commencement of treatment. Labetalol doses were titrated to maintain BP around 135/85 mmHg. Women with unresponsive BP, despite labetalol dose maximization (2400 mg/day), received additional vasodilatory therapy with nifedipine. Binary logistic and longitudinal (mixed-model) data analyses were performed to create prediction models anticipating the likelihood of hypertensive women needing vasodilatory therapy. The prediction models were created from data at presentation and at 1 h and 24 h after treatment, to assess the value of central hemodynamics relative to the predictive power of BP, heart rate and demographic variables at these intervals. Twenty-two percent of our cohort required additional vasodilatory therapy antenatally. These women had higher rates of severe hypertension and delivered smaller babies at earlier gestational ages. The unresponsive women were more likely to be of black ethnicity, had higher BP and peripheral vascular resistance (PVR), and lower heart rate and cardiac output (CO) at presentation. Those who needed vasodilatory therapy showed an initial decrease in BP and PVR, which rebounded at 24 h, whereas BP and PVR in those who responded to labetalol showed a sustained decrease at 1 h and 24 h. Stroke volume and CO did not decrease during the acute phase of treatment in either group. The best model for prediction of the need for vasodilators was provided at 24 h by combining ethnicity and longitudinal BP and heart rate changes. The model achieved a detection rate of 100% for a false-positive rate of 20% and an area under the receiver-operating characteristics curve of 0.97. Maternal demographics and hemodynamic changes in the acute phase of labetalol monotherapy provide a powerful tool to identify hypertensive pregnant patients who are unlikely to have their BP controlled by this therapy and will consequently need additional vasodilatory therapy. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. Las embarazadas hipertensas que no responden al tratamiento con labetalol para el control de la presión arterial (PA), pero que requieren terapia vasodilatadora, evolucionan rápidamente hacia una hipertensión severa. Ésta se puede retrasar mediante un diagnóstico precoz y un tratamiento individual. En este estudio se ha tratado de crear modelos de predicción a partir de datos al inicio del tratamiento y al cabo de 1 hora y de 24 horas después del mismo, para identificar a las pacientes que no mostrarán una respuesta constante al labetalol y que por lo tanto necesitarán terapia vasodilatadora. MÉTODOS: La población de estudio incluyó 134 mujeres con hipertensión en un hospital del Reino Unido. El tratamiento con labetalol por vía oral se administró cuando la PA fue >150/100 mm de Hg o >140/90 mm de Hg con enfermedad multisistémica. Se registró la PA y los parámetros hemodinámicos tanto al inicio como al cabo de 1 h y de 24 h después del inicio del tratamiento. Las dosis de Labetalol se ajustaron para mantener la PA en torno a los 135/85 mm de Hg. Las mujeres cuya PA no produjo respuesta, a pesar de haberles administrado la dosis máxima de labetalol (2400 mg/día), recibieron terapia vasodilatadora adicional con nifedipino. Se realizaron análisis de datos mediante logística binaria y longitudinal (modelo mixto), para crear modelos de predicción con los que pronosticar la probabilidad de la necesidad de terapia vasodilatadora en mujeres hipertensas. Los modelos de predicción se crearon a partir de datos al inicio y al cabo de 1 hora y 24 horas del tratamiento, para evaluar el valor de los parámetros hemodinámicos principales con respecto a la capacidad predictiva de la PA, la frecuencia cardíaca y las variables demográficas en estos intervalos. El 22 % de la cohorte necesitó terapia vasodilatadora adicional antes del parto. Estas mujeres tuvieron tasas más altas de hipertensión grave y neonatos más pequeños en edades gestacionales más tempranas. Las mujeres que no respondieron al tratamiento fueron con más frecuencia de raza negra, tuvieron la PA y la resistencia vascular periférica (RVP) más alta, y la frecuencia cardíaca y el gasto cardíaco (GC) más bajos al inicio del tratamiento. Aquellas que necesitaron terapia vasodilatadora mostraron un descenso inicial de la PA y la RVP, que se recuperó al cabo de 24 h, mientras que la PA y la RVP en las que respondieron al labetalol mostraron una disminución constante al cabo de 1 h y de 24 h. El volumen sistólico y el GC no disminuyeron durante la fase aguda del tratamiento en ninguno de los grupos. El mejor modelo para la predicción de la necesidad de vasodilatadores se obtuvo a las 24 h mediante la combinación de la etnia con los cambios longitudinales de la PA y la frecuencia cardíaca. El modelo alcanzó una tasa de detección del 100% para una tasa de falsos positivos del 20% y un área bajo la curva de características operativas del receptor de 0,97. CONCLUSIÓN: Los datos demográficos maternos y los cambios hemodinámicos en la fase aguda de la monoterapia con labetalol constituyen una herramienta poderosa para identificar a las pacientes embarazadas hipertensas con pocas probabilidades de que se les pueda controlar su PA mediante esta terapia y que por lo tanto necesitarán terapia vasodilatadora adicional. : 、(blood pressure,BP),。。,1 h24 h,。 : 134。BP>150/100 mmHgBP>140/90 mmHg。1 h24 hBP。,BP135/85 mmHg。BP,()。logistic(),。1 h24 h,,BP、。 : 22%。。,BP(peripheral vascular resistance,PVR),(cardiac output,CO)。BPPVR,24 h,1 h24 hBPPVR。CO。24hBP。100%,20%,0.97。 : ,BP。. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

HOSPITALIZATIONS FOR CHOLECYSTITIS AND CHOLELITHIASIS IN THE STATE OF RIO GRANDE DO SUL, BRAZIL.

PubMed

Nunes, Emeline Caldana; Rosa, Roger Dos Santos; Bordin, Ronaldo

2016-01-01

The cholelithiasis is disease of surgical resolution with about 60,000 hospitalizations per year in the Sistema Único de Saúde (SUS - Brazilian National Health System) of the Rio Grande do Sul state. To describe the profile of hospitalizations for cholecystitis and cholelithiasis performed by the SUS of Rio Grande do Sul state, 2011-2013. Hospital Information System data from the National Health System through morbidity list for cholelithiasis and cholecystitis (ICD-10 K80-K81). Variables studied were sex, age, number of hospitalizations and approved Hospitalization Authorizations (AIH), total amount and value of hospital services generated, days and average length of stay, mortality, mortality and case fatality ratio, from health regions of the Rio Grande do Sul. During 2011-2013 there were 60,517 hospitalizations for cholecystitis and cholelithiasis, representing 18.86 hospitalizations per 10,000 inhabitants/year, most often in the age group from 60 to 69 years (41.34 admissions per 10,000 inhabitants/year) and female (27.72 hospitalizations per 10,000 inhabitants/year). The fatality rate presented an inverse characteristic: 13.52 deaths per 1,000 admissions/year for males, compared with 7.12 deaths per 1,000 admissions/year in females. The state had an average total amount spent and value of hospital services of R$ 16,244,050.60 and R$ 10,890,461.31, respectively. The health region "Capital/Gravataí Valley" exhibit the highest total expenditure and hospital services, and the largest number of deaths, and average length of stay. The hospitalization and lethality coefficients, the deaths, the length of stay and spending related to admissions increased from 50 years old. Females had a higher frequency and higher values ​​spent on hospitalization, while the male higher coefficient of mortality and mean hospital stay. A colelitíase é doença de resolução cirúrgica com cerca de 60.000 internações por ano no Sistema Único de Saúde no estado do Rio Grande do Sul. Descrever o perfil das internações por colecistite e colelitíase na rede pública do estado no triênio 2011-2013. Emprego de dados do Sistema de Informações Hospitalares do Sistema Único de Saúde, através da lista de morbidades para colelitíase e colecistite (CID-10 K80-K81). As variáveis estudadas foram: sexo, idade, número de internações e de Autorizações de Internação Hospitalar aprovadas, valor total e valor dos serviços hospitalares gerados, dias e média de permanência, óbitos, coeficiente de mortalidade e letalidade, a partir das regiões de saúde do estado. No triênio ocorreram 60.517 internações por colecistite e colelitíase, o que representou 18,86 internações por 10.000 habitantes/ano, mais frequente na faixa etária dos 60 aos 69 anos (41,34 internações por 10.000 habitantes/ano) e no sexo feminino (27,72 hospitalizações por 10.000 habitantes/ano). O coeficiente de letalidade apresentou característica inversa: 13,52 óbitos para 1.000 internações/ano para o sexo masculino, contra 7,12 óbitos para 1.000 internações/ano no sexo feminino. O estado apresentou médias de valor total gasto e de valor dos serviços hospitalares de R$16.244.050,60 e R$10.890.461,31, respectivamente. A região de saúde "Capital/Vale do Gravataí" apresentou o maior valor total gasto e de serviços hospitalares, e o maior número de óbitos, média e dias de permanência. Os coeficientes de internação e de letalidade, os óbitos, os dias de permanência e os gastos referentes às internações aumentam a partir dos 50 anos de idade. O sexo feminino apresentou maior frequência e maiores valores gastos com a internação, enquanto o masculino maior coeficiente de letalidade e média de permanência hospitalar.

Systematically frameshifting by deletion of every 4th or 4th and 5th nucleotides during mitochondrial transcription: RNA self-hybridization regulates delRNA expression.

PubMed

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.

F-35 Force Development Evaluation and Weapons School Beddown Environmental Impact Statement

DTIC Science & Technology

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

Perk Ablation Ameliorates Myelination in S63del-Charcot–Marie–Tooth 1B Neuropathy

PubMed Central

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

Depth of the base of the Jackson aquifer, based on geophysical exploration, southern Jackson Hole, Wyoming, USA

NASA Astrophysics Data System (ADS)

Nolan, Bernard T.; Campbell, David L.; Senterfit, Robert M.

A geophysical survey was conducted to determine the depth of the base of the water-table aquifer in the southern part of Jackson Hole, Wyoming, USA. Audio-magnetotellurics (AMT) measurements at 77 sites in the study area yielded electrical-resistivity logs of the subsurface, and these were used to infer lithologic changes with depth. A 100-600ohm-m geoelectric layer, designated the Jackson aquifer, was used to represent surficial saturated, unconsolidated deposits of Quaternary age. The median depth of the base of the Jackson aquifer is estimated to be 200ft (61m), based on 62 sites that had sufficient resistivity data. AMT-measured values were kriged to predict the depth to the base of the aquifer throughout the southern part of Jackson Hole. Contour maps of the kriging predictions indicate that the depth of the base of the Jackson aquifer is shallow in the central part of the study area near the East and West Gros Ventre Buttes, deeper in the west near the Teton fault system, and shallow at the southern edge of Jackson Hole. Predicted, contoured depths range from 100ft (30m) in the south, near the confluences of Spring Creek and Flat Creek with the Snake River, to 700ft (210m) in the west, near the town of Wilson, Wyoming. Résumé Une campagne géophysique a été entreprise pour préciser la profondeur du mur de l'aquifère dans le secteur sud de Jackson Hole (Wyoming, États-Unis). Des mesures audio-magnétotelluriques (audio MT) sur 77 sites de ce secteur ont fourni des logs de résistivitéélectrique du sous-sol ; les variations de la lithologie en fonction de la profondeur en ont été déduites. Un niveau géoélectrique à 100-600ohm.m, dénommé "aquifère de Jackson", a servi à définir des dépôts superficiels quaternaires saturés en eau et non consolidés. La profondeur médiane de la base de l'aquifère de Jackson est de l'ordre de 61m, à partir des 62 sites ayant fourni suffisamment de données de résistivité. Les valeurs audio MT mesurées ont été krigées afin d'estimer la profondeur de la base de la formation aquifère dans la partie sud de Jackson Hole. Les cartes d'isovaleurs d'estimation krigées indiquent que la profondeur de la base de la formation aquifère de Jackson est faible dans la partie centrale de la zone d'étude à l'est et à l'ouest des monts Gros Ventre, plus grande dans le secteur ouest près de la zone faillée de Teton, et faible sur la bordure sud de Jackson Hole. Les profondeurs estimées vont de 30m au sud, près des confluences des rivières Spring et Flat avec la rivière Snake, à 210m à l'ouest près de la ville de Wilson (Wyoming). Resumen Se llevó a cabo una campaña geofísica para determinar la profundidad del basamento de un acuífero libre en la zona sur de Jackson Hole, Wyoming, EEUU. USA. Medidas audio-magnetotelúricas (ATM) en 77 lugares de la zona de estudio dieron lugar a registros de resistividad eléctrica del subsuelo, que se usaron para inferir los cambios litológicos con la profundidad. Los depósitos superficiales, saturados y no consolidados de edad cuaternaria, el acuífero de Jackson, forman una capa de resistencia geoeléctrica entre 100-600ohm-m. La profundidad media de la base del acuífero de Jackson se estima en unos 61m (200pies), a partir de 62 registros con medidas suficientes. Los valores ATM fueron krigeados para obtener una medida de la profundidad del basamento del acuífero en la zona sur de Jackson Hole. Los mapas de isoprofundidades obtenidos por krigeado indican que el acuífero es poco profundo en la parte central de la zona de estudio, cerca de los Gros Ventre Buttes orientales y occidentales, más profundo al oeste, cerca del sistema de fallas de Teton, y menos profundo en el borde sur de Jackson Hole. Las profundidades van desde 30m (100pies) en el sur, en la confluencia entre los desfiladeros Spring y Flat con el Río Snake, hasta 210m (700pies) al oeste, cerca de la ciudad de Wilson, Wyoming.

The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes

PubMed Central

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

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.

PubMed

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.

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

PubMed Central

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

Association of methylenetetrahydrofolate reductase (MTHFR 677C>T) and thymidylate synthase (TSER and TS 1494del6) polymorphisms with premature ovarian failure in Korean women.

PubMed

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.

PubMed

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

PubMed Central

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

Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.

PubMed

Fuerst, Nicole M; Serrano, Leona; Han, Grace; Morgan, Jessica I W; Maguire, Albert M; Leroy, Bart P; Kim, Benjamin J; Aleman, Tomas S

2016-12-01

To describe in detail the phenotype of a patient with Bietti crystalline dystrophy (BCD) complicated by choroidal neovascularization (CNV) and the response to intravitreal Bevacizumab (Avastin ® ; Genentech/Roche). A 34-year-old woman with BCD and mutations in CYP4V2 (c.802-8_806del13/p.H331P:c992A>C) underwent a complete ophthalmic examination, full-field flash electroretinography (ERG), kinetic and two-color dark-adapted perimetry, and dark-adaptometry. Imaging was performed with spectral domain optical coherence tomography (SD-OCT), near infrared (NIR) and short wavelength (SW) fundus autofluorescence (FAF), and fluorescein angiography (FA). Best-corrected visual acuity (BCVA) was 20/20 and 20/60 for the right and left eye, respectively. There were corneal paralimbal crystal-like deposits. Kinetic fields were normal in the peripheral extent. Retinal crystals were most obvious on NIR-reflectance and corresponded with hyperreflectivities within the RPE on SD-OCT. There was parafoveal/perifoveal hypofluorescence on SW-FAF and NIR-FAF. Rod > cone sensitivity loss surrounded fixation and extended to ~10° of eccentricity corresponding to regions of photoreceptor outer segment-retinal pigmented epithelium (RPE) interdigitation abnormalities. The outer nuclear layer was normal in thickness. Recovery of sensitivity following a ~76% rhodopsin bleach was normal. ERGs were normal. A subretinal hemorrhage in the left eye co-localized with elevation of the RPE on SD-OCT and leakage on FA, suggestive of CNV. Three monthly intravitreal injections of Bevacizumab led to restoration of BCVA to baseline (20/25). crystals in BCD were predominantly located within the RPE. Photoreceptor outer segment and apical RPE abnormalities underlie the relatively extensive retinal dysfunction observed in relatively early-stage BCD. Intravitreal Bevacizumab was effective in treating CNV in this setting.

Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature.

PubMed

Canton, Ana Pinheiro Machado; Nishi, Mirian Yumie; Furuya, Tatiane Katsue; Roela, Rosimeire Aparecida; Jorge, Alexander Augusto Lima

2016-04-01

The 9p trisomy syndrome is a rare condition, clinically characterized by a wide range of dysmorphic features, intellectual disability, and, in most patients, by short stature. Recombinant human growth hormone (rhGH) therapy is still controversial in syndromic disorders, the reason for which it is not currently indicated. Here we report a 7-year-old boy with 9p trisomy syndrome and marked short stature. Results of routine laboratory assessments were normal. IGF1 and IGFBP3 levels were both in the normal range (-1.6 and -0.7 SDS, respectively). GH peak in response to oral clonidine stimulation test was 3.5 μg/L, which is considered a normal response. Chromosomal analysis revealed the karyotype 47,XY, + del(9)(pter-q11:) dn. SNP array data indicated absence of mosaicism [arr 9p24.3-p13.1 (203,861-38,787,480) x3]. By the age of 8.3 years, the patient had persistent short stature (-2.9 SDS) with normal growth velocity (4.9 cm/y; -0.7 SDS), not showing spontaneous catch-up. After 5.6 years of rhGH therapy (50 μg/kg/d), height SDS improved from -2.9 to -1.0. This result suggests that rhGH therapy could be considered for patients with 9p trisomy syndrome who present with short stature. The degree of intellectual disability and the potential for social inclusion should be taken into account when recommending this treatment. Additional studies are needed to establish the benefits of height gain in these patients. © 2015 Wiley Periodicals, Inc.

Occurrence of springs in massifs of crystalline rocks, northern Portugal

NASA Astrophysics Data System (ADS)

Pacheco, Fernando António Leal; Alencoão, Ana Maria Pires

2002-02-01

An inventory of artesian springs emerging from fractures (fracture springs) was conducted in the Pinhão River Basin and Morais Massif, northern Portugal, comprising an area of approximately 650 km2. Over 1,500 springs were identified and associated with geological domains and fracture sets. Using cross-tabulation analysis, spring distributions by fracture sets were compared among geological environments, and the deviations related to differences in rock structure and, presumably, to differences in deformational histories. The relation between spring frequencies and rock structures was further investigated by spectral determination, the model introduced in this study. Input data are the spring frequencies and fracture lengths in each geological domain, in addition to the angles between fracture strikes and present-day stress-field orientation (θ). The model's output includes the so-called intrinsic densities, a parameter indexing spring occurrence to factors such as fracture type and associated deformational regime and age. The highest densities (12.2 springs/km of lineament) were associated with young shear fractures produced by brittle deformation, and the lowest (0.1) with old tensional and ductile fractures. Spectral determination also relates each orientation class to a dominant structural parameter: where spring occurrence is controlled by θ, the class is parallel to the present-day stress-field orientation; where the control is attributed to the length of fractures, the spring occurrence follows the strike of large-scale normal faults crossing the region. Résumé. Un inventaire des sources artésiennes émergeant de fractures (sources de fractures) a été réalisé dans le bassin de la rivière Pinhão et dans le massif de Morais, dans le nord du Portugal, dans une région couvrant environ 650 km2. Plus de 1,500 sources ont été identifiées et associées à des domaines géologiques et à des ensembles de fractures. Grâce à une analyse de tableaux croisés, les distributions des sources par ensemble de fractures ont été comparées aux situations géologiques et aux écarts liés aux différences dans les structures des roches et, probablement, aux différences dans leurs histoires de déformations. Les relations entre la fréquence des sources et la structure des roches ont été étudiées ensuite par détermination spectrale, modèle présenté dans cette étude. Les données d'entrée sont les fréquences des sources et les longueurs des fractures dans chaque domaine géologique, en plus des angles entre directions de fractures et orientation du champ de contraintes actuel (θ). La sortie du modèle donne les densités dites intrinsèques, un paramètre indexant l'existence d'une source à des facteurs tels que le type de fracture et le régime et l'âge associés de la déformation. Les densités les plus fortes (12,2 sources par km de linéament) ont été associées à des fractures jeunes produites par des déformations lentes, et les plus faibles (0,1) aux fractures anciennes ductiles et de tension. La détermination spectrale associe également chaque classe d'orientation à un paramètre structural dominant: quand la présence d'une source est contrôlée par θ, la classe est parallèle à l'orientation actuelle du champ de contrainte; lorsque le contrôle est attribué à la longueur des fractures, la présence de sources suit le plan des failles normales à grande échelle traversant la région. Resumen. Se ha llevado a cabo un inventario de manantiales emergentes de fracturas (manantiales de fracturas) en la cuenca del Río Pinhão y en el Macizo de Morais. El área estudiada ocupa unos 650 km2 y se halla al Norte de Portugal. Se ha identificado más de 1.500 manantiales, los cuales han sido asociados con dominios geológicos y conjuntos de fracturas. Mediante el Análisis de la Tabulación Cruzada, se ha comparado la distribución de los manantiales por conjuntos de fracturas entre ambientes geológicos, así como las desviaciones relacionadas con diferencias en la estructura de la roca y, presumiblemente, en las historias de deformación. Se profundizó en la relación entre la frecuencia de los manantiales y las estructuras de la roca por medio de la Determinación Espectral, que es un modelo introducido en el presente estudio. Los datos de entrada son las frecuencias de los manantiales y la longitud de las fracturas en cada dominio geológico, además de los ángulos entre las direcciones de las fracturas y la orientación actual del campo de tensiones. Los resultados del modelo incluyen las denominadas densidades intrínsecas, parámetro que cuantifica la existencia de manantiales en función de factores como el tipo de fractura y el régimen y edad de deformación asociados. Las densidades mayores (12,2 manantiales por kilómetro de lineamiento) fueron atribuidas a fracturas jóvenes de cizalla causadas por deformación frágil, y las menores (valor 0,1) con fracturas antiguas y dúctiles. La Determinación Espectral también relaciona cada clase de orientación con un parámetro estructural dominante: donde la existencia de fracturas está dominada por el campo actual de tensiones, la clase es paralela a la orientación presente de dicho campo; donde domina la longitud de las fracturas, sigue la dirección de las fallas normales de gran escala que atraviesan la región.

Recent advances on the encoding and selection methods of DNA-encoded chemical library.

PubMed

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.

A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.

PubMed

Takagi, Masaki; Ishii, Tomohiro; Torii, Chiharu; Kosaki, Kenjiro; Hasegawa, Tomonobu

2014-12-01

Both duplications encompassing SOX3 and loss-of function mutations in SOX3 have been reported in a minor portion of X-linked isolated growth hormone deficiency (GHD) or combined pituitary hormone deficiency (CPHD) patients with or without mental retardation. We report a Japanese male patient with molecularly confirmed Kabuki syndrome who was found to have CPHD. We analyzed all coding exons and flanking introns of currently known nine genes responsible for CPHD by PCR-based sequencing. In this CPHD patient, we identified a novel hemizygous 21-base pair deletion, resulting in the loss of 7 alanine residues from polyalanine (PA) tracts of SOX3. The clinically and endocrinologically normal mother of the patient carried the same deletion in a heterozygous manner. In vitro experiments showed that the del 7A SOX3 had increased transactivation of the HESX1 promoter. Our study provides additional evidence that deletion in PA tracts of SOX3 is associated with hypopituitarism. Female carriers of SOX3 PA tract deletions will show a broad phenotypic spectrum, ranging from clinically normal to CPHD.

[Cervical spine instability in the surgical patient].

PubMed

Barbeito, A; Guerri-Guttenberg, R A

2014-03-01

Many congenital and acquired diseases, including trauma, may result in cervical spine instability. Given that airway management is closely related to the movement of the cervical spine, it is important that the anesthesiologist has detailed knowledge of the anatomy, the mechanisms of cervical spine instability, and of the effects that the different airway maneuvers have on the cervical spine. We first review the normal anatomy and biomechanics of the cervical spine in the context of airway management and the concept of cervical spine instability. In the second part, we review the protocols for the management of cervical spine instability in trauma victims and some of the airway management options for these patients. Copyright © 2013 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. All rights reserved.

Surface abundances of ON stars

NASA Astrophysics Data System (ADS)

Martins, F.; Simón-Díaz, S.; Palacios, A.; Howarth, I.; Georgy, C.; Walborn, N. R.; Bouret, J.-C.; Barbá, R.

2015-06-01

Context. Massive stars burn hydrogen through the CNO cycle during most of their evolution. When mixing is efficient or when mass transfer in binary systems occurs, chemically processed material is observed at the surface of O and B stars. Aims: ON stars show stronger lines of nitrogen than morphologically normal counterparts. Whether this corresponds to the presence of material processed through the CNO cycle is not known. Our goal is to answer this question. Methods: We performed a spectroscopic analysis of a sample of ON stars with atmosphere models. We determined the fundamental parameters as well as the He, C, N, and O surface abundances. We also measured the projected rotational velocities. We compared the properties of the ON stars to those of normal O stars. Results: We show that ON stars are usually rich in helium. Their CNO surface abundances are fully consistent with predictions of nucleosynthesis. ON stars are more chemically evolved and rotate - on average - faster than normal O stars. Evolutionary models including rotation cannot account for the extreme enrichment observed among ON main sequence stars. Some ON stars are members of binary systems, but others are single stars as indicated by stable radial velocities. Mass transfer is therefore not a simple explanation for the observed chemical properties. Conclusions: We conclude that ON stars show extreme chemical enrichment at their surface, consistent with nucleosynthesis through the CNO cycle. Its origin is not clear at present. Based on observations obtained 1) at the Anglo-Australian Telescope; 2) at the Canada-France-Hawaii Telescope (CFHT), which is operated by the National Research Council (NRC) of Canada, the Institut National des Science de l'Univers of the Centre National de la Recherche Scientifique (CNRS) of France, and the University of Hawaii; 3) at the ESO/La Silla Observatory under programs 081.D-2008, 083.D-0589, 086.D-0997; 4) the Nordic Optical Telescope, operated on the island of La Palma jointly by Denmark, Finland, Iceland, Norway, and Sweden, in the Spanish Observatorio del Roque de los Muchachos of the Instituto de Astrofísica de Canarias; 5) the Mercator Telescope, operated on the island of La Palma by the Flemish Community at the Spanish Observatorio del Roque de los Muchachos of the Instituto de Astrofísica de Canarias.Appendices are available in electronic form at http://www.aanda.orgThe reduced spectra are only available at the CDS via anonymous ftp to http://cdsarc.u-strasbg.fr (ftp://130.79.128.5) or via http://cdsarc.u-strasbg.fr/viz-bin/qcat?J/A+A/578/A109

β2 -microglobulin normalization within 6 months of ibrutinib-based treatment is associated with superior progression-free survival in patients with chronic lymphocytic leukemia.

PubMed

Thompson, Philip A; O'Brien, Susan M; Xiao, Lianchun; Wang, Xuemei; Burger, Jan A; Jain, Nitin; Ferrajoli, Alessandra; Estrov, Zeev; Keating, Michael J; Wierda, William G

2016-02-15

A high pretreatment β2 -microglobulin (B2M) level is associated with inferior survival outcomes in patients with chronic lymphocytic leukemia. However, to the authors' knowledge, the prognostic and predictive significance of changes in B2M during treatment have not been reported to date. The authors analyzed 83 patients treated with ibrutinib-based regimens (66 with recurrent/refractory disease) and 198 treatment-naive patients who were treated with combined fludarabine, cyclophosphamide, and rituximab (FCR) to characterize changes in B2M and their relationship with clinical outcomes. B2M rapidly decreased during treatment with ibrutinib; on multivariable analysis, patients who received FCR (odds ratio, 0.40; 95% confidence interval [95% CI], 0.18-0.90 [P = .027]) were less likely to have normalized B2M at 6 months than patients treated with ibrutinib. On univariable analysis, normalization of B2M was associated with superior progression-free survival (PFS) from the 6-month landmark in patients treated with ibrutinib-based regimens and FCR. On multivariable analysis, failure to achieve normalized B2M at 6 months of treatment was associated with inferior PFS (hazard ratio, 16.9; 95% CI, 1.3-220.0 [P = .031]) for patients treated with ibrutinib, after adjusting for the effects of baseline B2M, stage of disease, fludarabine-refractory disease, and del(17p). In contrast, in patients treated with FCR, negative minimal residual disease status in the bone marrow was the only variable found to be significantly associated with superior PFS (hazard ratio, 0.28; 95% CI, 0.12-0.67 [P = .004]). Normalization of B2M at 6 months in patients treated with ibrutinib was found to be a useful predictor of subsequent PFS and may assist in clinical decision-making. © 2015 American Cancer Society.

Discretion over Valor: The AAUP during the McCarthy Years

ERIC Educational Resources Information Center

Aby, Stephen H.

2009-01-01

In recent years, there has been considerable and renewed interest in the effects of McCarthyism on academia. Ellen Schrecker's "No Ivory Tower" (1986), Lionel Lewis' "Cold War on Campus" (1988), David Holmes' "Stalking the Academic Communist" (1989), Charles McCormick's "This Nest of Vipers" (1989), Neil Hamilton's "Zealotry and Academic Freedom"…

School Attendance, Absenteeism, and Student Success. Research Brief

ERIC Educational Resources Information Center

Oregon Department of Education, 2015

2015-01-01

Oregon Department of Education staff spoke with principals from five Oregon schools that had low rates of chronic absenteeism compared to schools with similar demographics during the 2014-15 school year: Echo Shaw Elementary School, Free Orchards Elementary School, Dayton Junior High School, Valor Middle School, and North Marion High School. Each…

Valor de la Informacion en la Orientacion Vocacional (The Value of Information in Vocational Education).

ERIC Educational Resources Information Center

Rossi Etchelouz, Nelly Yvis

Information services in vocational education should describe for the student the reality of different professions--current characteristics and socio-economic conditions--and the chances for development in particular professions. This document discusses the need for such information in vocational education for making intelligent career choices and…

Three Accounts of Feminism and Women's Studies in Higher Education. Book Review Essay.

ERIC Educational Resources Information Center

Rice, Suzanne

1996-01-01

Provides an integrative essay that explores three books and their contributions to feminism and women's studies in higher education. Indicates that only one of the three works managed to escape the tendency of academic and popular media to either valorize or demonize feminists and their pursuits. (MAB)

76 FR 76871 - National Pearl Harbor Remembrance Day, 2011

Federal Register 2010, 2011, 2012, 2013, 2014

2011-12-08

... security the world has ever known. On the home front, dedicated civilians supported the war effort by... salvage programs and plant Victory gardens. At this time of great strife, we reminded the world there is... tenacity helped define the Greatest Generation and their valor fortified all who served during World War II...

Social Role Valorization Insights into the Social Integration Conundrum

ERIC Educational Resources Information Center

Lemay, Raymond

2006-01-01

More and more persons with mental retardation and psychiatric disabilities are present in mainstream society, yet have little interaction and few relationships outside their own peer groups of devalued persons. Social integration remains a desirable yet elusive goal for most human service organizations, and there continues to be a certain amount…

The Other 17 Hours: Valuing Out-of-School Time. Occasional Papers 30

ERIC Educational Resources Information Center

Teitle, Jennifer, Ed.

2015-01-01

This issue of "Bank Street Occasional Papers" explores the value of time outside of school. Educators have given relatively little scholarly attention to young people's nonschool lives. Ignored or valorized, nonschool spaces show up in educational research only as a backdrop, implying that school learning is the yardstick by which to…

Defense.gov Special Report: Travels with Gates - December 2010

Science.gov Websites

Says Gates Salutes Sailors, Marines at Afghanistan Base Secretary Presents Valor Awards to Bastogne at the U.S. Embassy, Kabul Remarks at Forward Operating Base Howz-e-Madad, Afghanistan Remarks at Base Joyce, Afghanistan Remarks at Forward Operating Base Connolly, Afghanistan Media Availabilty at

77 FR 31682 - In the Matter of Quintek Technologies, Inc., The Saint James Co., Urigen Pharmaceuticals, Inc...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-05-29

... SECURITIES AND EXCHANGE COMMISSION [File No. 500-1] In the Matter of Quintek Technologies, Inc., The Saint James Co., Urigen Pharmaceuticals, Inc., Valor Energy Corp., Wherify Wireless, Inc., and Win... Quintek Technologies, Inc. because it has not filed any periodic reports since the period ended September...

Analyzing Constructions of Polytheistic and Monotheistic Religious Traditions: A Critical Multicultural Approach to Textbooks in Quebec

ERIC Educational Resources Information Center

Abdou, Ehaab D.; Chan, W. Y. Alice

2017-01-01

How are religious traditions and exchanges between them constructed in textbooks used in Quebec? Through a critical discourse analysis of History and Citizenship Education, and Ethics and Religious Culture textbooks, we find that the Abrahamic monotheistic tradition is valorized, while non-Abrahamic monotheistic traditions and polytheism are…

Microalgae-mediated bioremediation and valorization of cattle wastewater previously digested in a hybrid anaerobic reactor using a photobioreactor: Comparison between batch and continuous operation.

PubMed

de Mendonça, Henrique Vieira; Ometto, Jean Pierre Henry Balbaud; Otenio, Marcelo Henrique; Marques, Isabel Paula Ramos; Dos Reis, Alberto José Delgado

2018-08-15

Scenedesmus obliquus (ACOI 204/07) microalgae were cultivated in cattle wastewater in vertical alveolar flat panel photobioreactors, operated in batch and continuous mode, after previous digestion in a hybrid anaerobic reactor. In batch operation, removal efficiencies ranges of 65 to 70% of COD, 98 to 99% of NH 4 + and 69 to 77.5% of PO 4 -3 after 12days were recorded. The corresponding figures for continuous flow were from 57 to 61% of COD, 94 to 96% of NH 4 + and 65 to 70% of PO 4 -3 with mean hidraulic retention time of 12days. Higher rates of CO 2 fixation (327-547mgL -1 d -1 ) and higher biomass volumetric productivity (213-358mgL -1 d -1 ) were obtained in batch mode. This microalgae-mediated process can be considered promising for bioremediation and valorization of effluents produced by cattle breeding yielding a protein-rich microalgal biomass that could be eventually used as cattle feed. Copyright © 2018 Elsevier B.V. All rights reserved.

Catalytic valorization of starch-rich food waste into hydroxymethylfurfural (HMF): Controlling relative kinetics for high productivity.

PubMed

Yu, Iris K M; Tsang, Daniel C W; Yip, Alex C K; Chen, Season S; Wang, Lei; Ok, Yong Sik; Poon, Chi Sun

2017-08-01

This study aimed to maximize the valorization of bread waste, a typical food waste stream, into hydroxymethylfurfural (HMF) by improving our kinetic understanding. The highest HMF yield (30mol%) was achieved using SnCl 4 as catalyst, which offered strong derived Brønsted acidity and moderate Lewis acidity. We evaluated the kinetic balance between these acidities to facilitate faster desirable reactions (i.e., hydrolysis, isomerization, and dehydration) relative to undesirable reactions (i.e., rehydration and polymerization). Such catalyst selectivity of SnCl 4 , AlCl 3 , and FeCl 3 was critical in maximizing HMF yield. Higher temperature made marginal advancement by accelerating the undesirable reactions to a similar extent as the desirable pathways. The polymerization-induced metal-impregnated high-porosity carbon was a possible precursor of biochar-based catalyst, further driving up the economic potential. Preliminary economic analysis indicated a net gain of USD 43-236 per kilogram bread waste considering the thermochemical-conversion cost and chemical-trading revenue. Copyright © 2017 Elsevier Ltd. All rights reserved.

Thermal valorization of post-consumer film waste in a bubbling bed gasifier.

PubMed

Martínez-Lera, S; Torrico, J; Pallarés, J; Gil, A

2013-07-01

The use of plastic bags and film packaging is very frequent in manifold sectors and film waste is usually present in different sources of municipal and industrial wastes. A significant part of it is not suitable for mechanical recycling but could be safely transformed into a valuable gas by means of thermal valorization. In this research, the gasification of film wastes has been experimentally investigated through experiments in a fluidized bed reactor of two reference polymers, polyethylene and polypropylene, and actual post-consumer film waste. After a complete experimental characterization of the three materials, several gasification experiments have been performed to analyze the influence of the fuel and of equivalence ratio on gas production and composition, on tar generation and on efficiency. The experiments prove that film waste and analogue polymer derived wastes can be successfully gasified in a fluidized bed reactor, yielding a gas with a higher heating value in a range from 3.6 to 5.6 MJ/m3 and cold gas efficiencies up to 60%. Copyright © 2013 Elsevier Ltd. All rights reserved.

Valorization of Cheese and Tofu Whey through Enzymatic Synthesis of Lactosucrose.

PubMed

Corzo-Martinez, Marta; Luscher, Alice; de Las Rivas, Blanca; Muñoz, Rosario; Moreno, F Javier

2015-01-01

This work deals with the development of a new bioprocess for the efficient synthesis of lactosucrose, a potential prebiotic oligosaccharide with a high value-added, from two important and inexpensive agro-industrial by-products such as tofu whey and cheese whey permeate. The bioconversion is driven by the ability of the enzyme levansucrase SacB from Bacillus subtilis CECT 39 to transfructosylate lactose contained in the cheese whey permeate by using not only sucrose but also raffinose and stachyose, which are present in considerable amounts in the tofu whey, as suitable donors of fructosyl moieties. The maximum lactosucrose concentration obtained from both by-products was 80.1 g L-1 after a short reaction time 120 min at 37°C, leading to productivity and specific productivity values of 40.1 g lactosucrose L-1 h-1 and 80.1 mg lactosucrose U enzyme-1 h-1, respectively. Findings contained in this work could provide a new strategy to valorize agro-industrial by-products as cheese whey permeate and, specially, tofu whey by means of their use as renewable resources in the enzymatic synthesis of bioactive oligosaccharides.

New insights into meat by-product utilization.

PubMed

Toldrá, Fidel; Mora, Leticia; Reig, Milagro

2016-10-01

Meat industry generates large volumes of by-products like blood, bones, meat trimmings, skin, fatty tissues, horns, hoofs, feet, skull and viscera among others that are costly to be treated and disposed ecologically. These costs can be balanced through innovation to generate added value products that increase its profitability. Rendering results in feed ingredients for livestock, poultry and aquaculture as well as for pet foods. Energy valorization can be obtained through the thermochemical processing of meat and bone meal or the use of waste animal fats for the production of biodiesel. More recently, new applications have been reported like the production of polyhydroxyalkanoates as alternative to plastics produced from petroleum. Other interesting valorization strategies are based on the hydrolysis of by-products to obtain added value products like bioactive peptides with relevant physiological effects as antihypertensive, antioxidant, antidiabetic, antimicrobial, etc. with promising applications in the food, pharmaceutical and cosmetics industry. This paper reports and discusses the latest developments and trends in the use and valorisation of meat industry by-products. Copyright © 2016 Elsevier Ltd. All rights reserved.

Preparation of sustainable photocatalytic materials through the valorization of industrial wastes.

PubMed

Sugrañez, Rafael; Cruz-Yusta, Manuel; Mármol, Isabel; Morales, Julián; Sánchez, Luis

2013-12-01

A new value-added material was developed from wastes to aim for appropriate waste management and sustainable development. This paper reports the valorization of industrial sandblasting operation wastes (SOWs) as new photocatalytic materials. This waste is composed of Fe2 O3 (60.7 %), SiO2 (29.1 %), and Al2 O3 (3.9 %) as the main components. The high presence of iron oxides was used to develop photocatalytic properties through their thermal transformation into α-Fe2 O3 . The new product, SOW-T, exhibited a good behavior towards the photochemical degradation of organic dyes. The preparation of advanced photocatalytic materials that exhibit self-cleaning and depolluting properties was possible by the inclusion of SOW-T and TiO2 in a cement-based mortar. The synergy observed between both materials enhanced their photocatalytic action. To the best of our knowledge, this is the first report that describes the use of transformed wastes based on iron oxide for the photochemical oxidation of NOx gases. Copyright © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Ergonomical valorization of working spaces in multipurpose ships.

PubMed

Seif, Mehdi; Degiuli, Nastija; Muftić, Osman

2003-06-01

In this work it is shown how anthropological data are among the most needed factors in ergonomical valorization of crew working spaces. Ship's working or living environment involves many unique human factors, which should be specially considered in our case as limitation of crew space. In this work we have chosen ships of different years of construction to prove this tendency. As a micro study, the work posture analysis using the pulling force experiment is performed in order to determine lumbar moment, intra-abdominal pressure as a measure of evaluating and comparing different crew work positions. As a macro-study, the "crew work posture analysis" was carried out by the use of the data collected from real cases. The most probable work postures in different spaces of a ship are classified and after some corrections of the work place the profile and its grade were determined. The "statistical analysis for real ship's spaces" is also performed, as well as another macro study, in order to show some real designed ship spaces from the point of view of the allocated volume.

Geodiversity of Georgia: valorization of geotouristic potential

NASA Astrophysics Data System (ADS)

Abramowicz, Anna

2017-04-01

Georgia, as a country with a high geodiversity, boasts an infinite variety of landscapes, wealth of geological formations and surface water systems. These attributes have a significant influence on the development of geo-touristic potential. The prevalence of geotourism can positively improve the situation in the country. Unfortunately, many interesting places are not sufficiently well utilized, which makes them difficult to access. There is also a failure to provide or disseminate information about these places to visitors. Various sources describe numerous locations, but none of them carry a full inventory or database of categorized objects. Inventory based on studies and field work helped to create categorized geosites in Georgia (including the occupied territories). Evidential cards with detailed descriptions were prepared for every cataloged object. Categorized geosites were used to carry out a valorisation of geotouristic objects and geodiversity evaluation by QGIS and ArcGIS. Valorization of geotouristic potential determined two regions with an exceptionally huge attractiveness and geodiversity on a national scale. Results of the evaluation and valorisation were visualised and presented as an application in ArcGIS Online platform.

Towards a carbon-negative sustainable bio-based economy.

PubMed

Vanholme, Bartel; Desmet, Tom; Ronsse, Frederik; Rabaey, Korneel; Van Breusegem, Frank; De Mey, Marjan; Soetaert, Wim; Boerjan, Wout

2013-01-01

The bio-based economy relies on sustainable, plant-derived resources for fuels, chemicals, materials, food and feed rather than on the evanescent usage of fossil resources. The cornerstone of this economy is the biorefinery, in which renewable resources are intelligently converted to a plethora of products, maximizing the valorization of the feedstocks. Innovation is a prerequisite to move a fossil-based economy toward sustainable alternatives, and the viability of the bio-based economy depends on the integration between plant (green) and industrial (white) biotechnology. Green biotechnology deals with primary production through the improvement of biomass crops, while white biotechnology deals with the conversion of biomass into products and energy. Waste streams are minimized during these processes or partly converted to biogas, which can be used to power the processing pipeline. The sustainability of this economy is guaranteed by a third technology pillar that uses thermochemical conversion to valorize waste streams and fix residual carbon as biochar in the soil, hence creating a carbon-negative cycle. These three different multidisciplinary pillars interact through the value chain of the bio-based economy.

Green Processing of Lignocellulosic Biomass and Its Derivatives in Deep Eutectic Solvents.

PubMed

Tang, Xing; Zuo, Miao; Li, Zheng; Liu, Huai; Xiong, Caixia; Zeng, Xianhai; Sun, Yong; Hu, Lei; Liu, Shijie; Lei, Tingzhou; Lin, Lu

2017-07-10

The scientific community has been seeking cost-competitive and green solvents with good dissolving capacity for the valorization of lignocellulosic biomass. At this point, deep eutectic solvents (DESs) are currently emerging as a new class of promising solvents that are generally liquid eutectic mixtures formed by self-association (or hydrogen-bonding interaction) of two or three components. DESs are attractive solvents for the fractionation (or pretreatment) of lignocellulose and the valorization of lignin, owing to the high solubility of lignin in DESs. DESs are also employed as effective media for the modification of cellulose to afford functionalized cellulosic materials, such as cellulose nanocrystals. More interestingly, biomassderived carbohydrates, such as fructose, can be used as one of the constituents of DESs and then dehydrated to 5-hydroxymethylfurfural in high yield. In this review, a comprehensive summary of recent contribution of DESs to the processing of lignocellulosic biomass and its derivatives is provided. Moreover, further discussion about the challenges of the application of DESs in biomass processing is presented. © 2017 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.

Characterization of industrial broccoli discards (Brassica oleracea var. italica) for their glucosinolate, polyphenol and flavonoid contents using UPLC MS/MS and spectrophotometric methods.

PubMed

Thomas, Minty; Badr, Ashraf; Desjardins, Yves; Gosselin, Andre; Angers, Paul

2018-04-15

The agrifood industry produces tons of waste and substandard products that are discarded at great expense. Valorization of industrial residues curbs issues related to food security and environmental problems. Broccoli (Brassica oleracea var. italica) is associated with varied beneficial health effects, but its production yields greater than 25% rejects. We aimed to characterize and quantify industrial broccoli by-products for their glucosinolate and polyphenol contents as a first step towards industrial bio-refining. Broccoli segments and rejected lots of 10 seed cultivars were analyzed using UPLC MS/MS. Variability in the contents of bioactive molecules was observed within and between the cultivars. Broccoli by-products were rich in glucosinolates (0.2-2% dry weight sample), predominantly glucoraphanin (32-64% of the total glucosinolates), whereas the polyphenolic content was less than 0.02% dry weight sample. Valorization of industrial residues facilitates the production of high value functional food ingredients along with socio-economic sustainability. Copyright © 2017 Elsevier Ltd. All rights reserved.

Towards a carbon-negative sustainable bio-based economy

PubMed Central

Vanholme, Bartel; Desmet, Tom; Ronsse, Frederik; Rabaey, Korneel; Breusegem, Frank Van; Mey, Marjan De; Soetaert, Wim; Boerjan, Wout

2013-01-01

The bio-based economy relies on sustainable, plant-derived resources for fuels, chemicals, materials, food and feed rather than on the evanescent usage of fossil resources. The cornerstone of this economy is the biorefinery, in which renewable resources are intelligently converted to a plethora of products, maximizing the valorization of the feedstocks. Innovation is a prerequisite to move a fossil-based economy toward sustainable alternatives, and the viability of the bio-based economy depends on the integration between plant (green) and industrial (white) biotechnology. Green biotechnology deals with primary production through the improvement of biomass crops, while white biotechnology deals with the conversion of biomass into products and energy. Waste streams are minimized during these processes or partly converted to biogas, which can be used to power the processing pipeline. The sustainability of this economy is guaranteed by a third technology pillar that uses thermochemical conversion to valorize waste streams and fix residual carbon as biochar in the soil, hence creating a carbon-negative cycle. These three different multidisciplinary pillars interact through the value chain of the bio-based economy. PMID:23761802

CHEK2*1100delC homozygosity in the Netherlands—prevalence and risk of breast and lung cancer

PubMed Central

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

The -2549 insertion/deletion polymorphism in the promoter region of VEGF is associated with the risk of recurrent spontaneous abortion.

PubMed

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.

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.

PubMed

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.

PubMed

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

Treesearch

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...

Extracorporeal membrane oxygenation in children with heart disease and del22q11 syndrome: a review of the Extracorporeal Life Support Organization Registry.

PubMed

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.

Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.

PubMed

Shaibani, Aziz; Wong, Lee-Jun; Wei Zhang, Victor; Lewis, Richard Alan; Shinawi, Marwan

2015-01-01

Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive disorder characterized by severe sensory ataxia, muscle weakness and atrophy, and progressive pigmentary retinopathy. Recently, mutations in the FLVCR1 gene were described in four families with this condition. We investigated the molecular basis and studied the phenotype of PCARP in a new family. The proband is a 33-year-old woman presented with sensory polyneuropathy and retinitis pigmentosa (RP). The constellation of clinical findings with normal metabolic and genetic evaluation, including mitochondrial DNA (mtDNA) analysis and normal levels of phytanic acid and vitamin E, prompted us to seek other causes of our patient's condition. Sequencing of FLVCR1 in the proband and targeted mutation testing in her two affected siblings revealed two novel variants, c.1547G > A (p.R516Q) and c.1593+5_+8delGTAA predicted, respectively, to be highly conserved throughout evolution and affecting the normal splicing, therefore, deleterious. This study supports the pathogenic role of FLVCR1 in PCARP and expands the molecular and clinical spectra of PCARP. We show for the first time that nontransmembrane domain (TMD) mutations in the FLVCR1 can cause PCARP, suggesting different mechanisms for pathogenicity. Our clinical data reveal that impaired sensation can be part of the phenotypic spectrum of PCARP. This study along with previously reported cases suggests that targeted sequencing of the FLVCR1 gene should be considered in patients with severe sensory ataxia, RP, and peripheral sensory neuropathy.

Validation of the adherence questionnaire for Brazilian chronic kidney disease patients under hemodialysis.

PubMed

Lins, Silvia Maria de Sá Basilio; Leite, Josete Luzia; Godoy, Simone de; Fuly, Patrícia Dos Santos Claro; Araújo, Silvia Teresa Carvalho de; Silva, Ítalo Rodolfo

2017-01-01

To validate the evaluation questionnaire on adherence of chronic kidney disease (CKD) patients under hemodialysis. We verified the following psychometric properties of the instrument: reliability (stability and internal consistency) and validity (face, content, and construct). The intraclass correlation coefficient reached a value of 0.98 for the adherence questions and 0.91 for the perception questions. Regarding the kappa of the 14 questions examined, 12 had a value > 0.8, whereas the Cronbach's alpha had a value of 0.57. Experts ensured the face and content validity of the instrument, giving it an overall content validity index of 0.96. Construct validity, analyzed by Mann-Whitney test, was achieved as all domains showed a significant association with p<0.01. We verified, by the presented results, that the instrument has been validated for use in Brazil. Validar o questionário de avaliação sobre a adesão do portador de doença renal crônica em hemodiálise. Foram verificadas as seguintes propriedades psicométricas do instrumento: confiabilidade (estabilidade e consistência interna) e validade (de face, de conteúdo e de construto). O coeficiente de correlação intraclasse atingiu valor de 0,98 para as questões de adesão e 0,91 para as questões de percepção. Quanto ao kappa das 14 questões analisadas, 12 obtiveram um valor > 0,8. Já o alfa de Cronbach obteve valor de 0,57. Os especialistas asseguraram a validade de face e de conteúdo do instrumento, conferindo-lhe um índice de validade de conteúdo global de 0,96. A validade de construto, analisada por meio do teste de Mann-Whitney, foi alcançada na medida em que todos os domínios apresentaram uma associação significativa com p < 0,01. Verifica-se, pelos resultados apresentados, que o instrumento foi validado para uso no Brasil.

Energetic and biochemical valorization of cork boiling wastewater by anaerobic digestion.

PubMed

Marques, Isabel Paula; Gil, Luís; La Cara, Francesco

2014-01-01

In addition to energy benefits, anaerobic digestion offers other interesting advantages. The cork industry is of great environmental, economic and social significance in the western Mediterranean region, with Portugal being the world-leading producer and exporter. Cork boiling wastewater (CBW) is a toxic and recalcitrant organic effluent produced by this sector, which constitutes a serious environmental hazard. However, there is no documented research on anaerobic treatment/valorization performed with this effluent. The work presented here was developed with the aim to use the anaerobic digestion process to convert the CBW polluting organic load into an energy carrier gas and valuable molecules for industry. No lag phases were observed and a methane yield of 0.126 to 0.142 m(3) kg(-1) chemical oxygen demand (COD)added was registered in the mesophilic consortium experiments carried out in batch flasks at 37 ± 1°C. Anaerobic digestion can be advantageously connected to ultrafiltration or electrochemical processes, due to the following: 1) reduction of ellagic acid content and consequent decrease of CBW viscosity; and 2) increase in conductivity after the anaerobic process, avoiding the electrolyte application of the electrochemical process. The improvement of several CBW biochemical features shows that anaerobic digestion may provide additionally useful molecules. The rise in concentration of some of these compounds, belonging to the benzoic acid family (gallic, protocatechuic, vanillic and syringic acids), is responsible for the increase of antiradical activity of the phenolic fraction. Additionally, some enzymatic activity was also observed and while the laccase activity increased in the digested effluent by anaerobiosis, xylanase was formed in the process. The multidisciplinary approach adopted allowed the valorization of CBW in terms of energy and valuable biomolecules. By exploiting the anaerobic digestion process potential, a novel methodology to toxic and recalcitrant cork processing wastewater was developed.

Energetic and biochemical valorization of cork boiling wastewater by anaerobic digestion

PubMed Central

2014-01-01

Background In addition to energy benefits, anaerobic digestion offers other interesting advantages. The cork industry is of great environmental, economic and social significance in the western Mediterranean region, with Portugal being the world-leading producer and exporter. Cork boiling wastewater (CBW) is a toxic and recalcitrant organic effluent produced by this sector, which constitutes a serious environmental hazard. However, there is no documented research on anaerobic treatment/valorization performed with this effluent. The work presented here was developed with the aim to use the anaerobic digestion process to convert the CBW polluting organic load into an energy carrier gas and valuable molecules for industry. Results No lag phases were observed and a methane yield of 0.126 to 0.142 m3 kg-1 chemical oxygen demand (COD)added was registered in the mesophilic consortium experiments carried out in batch flasks at 37 ± 1°C. Anaerobic digestion can be advantageously connected to ultrafiltration or electrochemical processes, due to the following: 1) reduction of ellagic acid content and consequent decrease of CBW viscosity; and 2) increase in conductivity after the anaerobic process, avoiding the electrolyte application of the electrochemical process. The improvement of several CBW biochemical features shows that anaerobic digestion may provide additionally useful molecules. The rise in concentration of some of these compounds, belonging to the benzoic acid family (gallic, protocatechuic, vanillic and syringic acids), is responsible for the increase of antiradical activity of the phenolic fraction. Additionally, some enzymatic activity was also observed and while the laccase activity increased in the digested effluent by anaerobiosis, xylanase was formed in the process. Conclusions The multidisciplinary approach adopted allowed the valorization of CBW in terms of energy and valuable biomolecules. By exploiting the anaerobic digestion process potential, a novel methodology to toxic and recalcitrant cork processing wastewater was developed. PMID:24847378

Simultaneous valorization and biocatalytic upgrading of heavy vacuum gas oil by the biosurfactant-producing Pseudomonas aeruginosa AK6U.

PubMed

Ismail, Wael Ahmed; Mohamed, Magdy El-Said; Awadh, Maysoon N; Obuekwe, Christian; El Nayal, Ashraf M

2017-11-01

Heavy vacuum gas oil (HVGO) is a complex and viscous hydrocarbon stream that is produced as the bottom side product from the vacuum distillation units in petroleum refineries. HVGO is conventionally treated with thermochemical process, which is costly and environmentally polluting. Here, we investigate two petroleum biotechnology applications, namely valorization and bioupgrading, as green approaches for valorization and upgrading of HVGO. The Pseudomonas aeruginosa AK6U strain grew on 20% v/v of HVGO as a sole carbon and sulfur source. It produced rhamnolipid biosurfactants in a growth-associated mode with a maximum crude biosurfactants yield of 10.1 g l -1 , which reduced the surface tension of the cell-free culture supernatant to 30.6 mN m -1 within 1 week of incubation. The rarely occurring dirhamnolipid Rha-Rha-C 12 -C 12 dominated the congeners' profile of the biosurfactants produced from HVGO. Heavy vacuum gas oil was recovered from the cultures and abiotic controls and the maltene fraction was extracted for further analysis. Fractional distillation (SimDist) of the biotreated maltene fraction showed a relative decrease in the high-boiling heavy fuel fraction (BP 426-565 °C) concomitant with increase in the lighter distillate diesel fraction (BP 315-426 °C). Analysis of the maltene fraction revealed compositional changes. The number-average (Mn) and weight-average (Mw) molecular weights, as well as the absolute number of hydrocarbons and sulfur heterocycles were higher in the biotreated maltene fraction of HVGO. These findings suggest that HVGO can be potentially exploited as a carbon-rich substrate for production of the high-value biosurfactants by P. aeruginosa AK6U and to concomitantly improve/upgrade its chemical composition. © 2017 The Authors. Microbial Biotechnology published by John Wiley & Sons Ltd and Society for Applied Microbiology.

Combinatorial pretreatment and fermentation optimization enabled a record yield on lignin bioconversion.

PubMed

Liu, Zhi-Hua; Xie, Shangxian; Lin, Furong; Jin, Mingjie; Yuan, Joshua S

2018-01-01

Lignin valorization has recently been considered to be an essential process for sustainable and cost-effective biorefineries. Lignin represents a potential new feedstock for value-added products. Oleaginous bacteria such as Rhodococcus opacus can produce intracellular lipids from biodegradation of aromatic substrates. These lipids can be used for biofuel production, which can potentially replace petroleum-derived chemicals. However, the low reactivity of lignin produced from pretreatment and the underdeveloped fermentation technology hindered lignin bioconversion to lipids. In this study, combinatorial pretreatment with an optimized fermentation strategy was evaluated to improve lignin valorization into lipids using R. opacus PD630. As opposed to single pretreatment, combinatorial pretreatment produced a 12.8-75.6% higher lipid concentration in fermentation using lignin as the carbon source. Gas chromatography-mass spectrometry analysis showed that combinatorial pretreatment released more aromatic monomers, which could be more readily utilized by lignin-degrading strains. Three detoxification strategies were used to remove potential inhibitors produced from pretreatment. After heating detoxification of the lignin stream, the lipid concentration further increased by 2.9-9.7%. Different fermentation strategies were evaluated in scale-up lipid fermentation using a 2.0-l fermenter. With laccase treatment of the lignin stream produced from combinatorial pretreatment, the highest cell dry weight and lipid concentration were 10.1 and 1.83 g/l, respectively, in fed-batch fermentation, with a total soluble substrate concentration of 40 g/l. The improvement of the lipid fermentation performance may have resulted from lignin depolymerization by the combinatorial pretreatment and laccase treatment, reduced inhibition effects by fed-batch fermentation, adequate oxygen supply, and an accurate pH control in the fermenter. Overall, these results demonstrate that combinatorial pretreatment, together with fermentation optimization, favorably improves lipid production using lignin as the carbon source. Combinatorial pretreatment integrated with fed-batch fermentation was an effective strategy to improve the bioconversion of lignin into lipids, thus facilitating lignin valorization in biorefineries.