Ancient origin of the CAG expansion causing Huntington disease in a Spanish population

25 p. Figuras, tablas, bibliografíaHuntington disease (HD, MIM# 143100) is an autosomal dominant neurodegenerative disorder characterized clinically by progressive motor impairment, cognitive decline, and emotional deterioration. The disease is caused by the abnormal expansion of a CAG trinucleotide repeat in the first exon of the huntingtin gene in chromosome 4p16.3. HD is spread worldwide and it is generally accepted that few mutational events account for the origin of the pathogenic CAG expansion in most populations. We have investigated the genetic history of HD mutation in 83 family probands from the Land of Valencia, Eastern Spain. An analysis of the HD/CCG repeat in informative families suggested that at least two main chromosomes were associated in the Valencian population, one associated with allele 7 (77 mutant chromosomes) and one associated with allele 10 (2 mutant chromosomes). Haplotype A-7-A (H1) was observed in 47 out of 48 phase-known mutant chromosomes, obtained by segregation analysis, through the haplotype analysis of rs1313770-HD/CCGrs82334, as it also was in 120 out of 166 chromosomes constructed by means of the PHASE program. The genetic history and geographical distribution of the main haplotype H1 were both studied by constructing extended haplotypes with flanking STRs D4S106 and D4S3034. We found that we were able to determine the age of the CAG expansion associated with the haplotype H1 as being between 4,700 and 10,000 years ago. Furthermore, we observed a nonhomogenous distribution in the different regions associated with the different extended haplotypes of the ancestral haplotype H1, suggesting that local founder effects have occurred.This work was supported by the Fondo de investigación Sanitaria (FIS grant 01/1159), the Instituto de Salud Carlos III (grant G03/56) for the Spanish Network on Cerebellar Ataxias, and the Generalitat Valenciana (grant GRUPOS03/015).Peer reviewe

Ancient origin of the CAG expansion causing Huntingtons disease in a Spanish population.

[EN] Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized clinically by progressive motor impairment, cognitive decline, and emotional deterioration. The disease is caused by the abnormal expansion of a CAG trinucleotide repeat in the first exon of the huntingtin gene in chromosome 4p16.3. HD is spread worldwide and it is generally accepted that few mutational events account for the origin of the pathogenic CAG expansion in most populations. We have investigated the genetic history of HD mutation in 83 family probands from the Land of Valencia, in Eastern Spain. An analysis of the HD/CCG repeat in informative families suggested that at least two main chromosomes were associated in the Valencian population, one associated with allele 7 (77 mutant chromosomes) and one associated with allele 10 (two mutant chromosomes). Haplotype A-7-A (H1) was observed in 47 out of 48 phase-known mutant chromosomes, obtained by segregation analysis, through the haplotype analysis of rs1313770-HD/CCG-rs82334, as it also was in 120 out of 166 chromosomes constructed by means of the PHASE program. The genetic history and geographical distribution of the main haplotype H1 were both studied by constructing extended haplotypes with flanking short tandem repeats (STRs) D4S106 and D4S3034. We found that we were able to determine the age of the CAG expansion associated with the haplotype H1 as being between 4,700 and 10,000 years ago. Furthermore, we observed a nonhomogenous distribution in the different regions associated with the different extended haplotypes of the ancestral haplotype H1, suggesting that local founder effects have occurred.We are grateful for the kind collaboration of patients and families. This work was supported by the Fondo de investigación Sanitaria (FIS grant 01/1159), the Instituto de Salud Carlos III (grant G03/56) for the Spanish Network on Cerebellar Ataxias, and the Generalitat Valenciana (grant GRUPOS03/015).García-Planells, J.; Burguera, JA.; Solís, P.; Millán, JM.; Ginestar Peiro, D.; Palau, F.; Espinós-Armero, CÁ. (2005). Ancient origin of the CAG expansion causing Huntingtons disease in a Spanish population. Human Mutation. 25(5):453-459. https://doi.org/10.1002/humu.2016745345925

Validation of Sentinel-3 SLSTR Land Surface Temperature Retrieved by the Operational Product and Comparison with Explicitly Emissivity-Dependent Algorithms

Land surface temperature (LST) is an essential climate variable (ECV) for monitoring the Earth climate system. To ensure accurate retrieval from satellite data, it is important to validate satellite derived LSTs and ensure that they are within the required accuracy and precision thresholds. An emissivity-dependent split-window algorithm with viewing angle dependence and two dual-angle algorithms are proposed for the Sentinel-3 SLSTR sensor. Furthermore, these algorithms are validated together with the Sentinel-3 SLSTR operational LST product as well as several emissivity-dependent split-window algorithms with in-situ data from a rice paddy site. The LST retrieval algorithms were validated over three different land covers: flooded soil, bare soil, and full vegetation cover. Ground measurements were performed with a wide band thermal infrared radiometer at a permanent station. The coefficients of the proposed split-window algorithm were estimated using the Cloudless Land Atmosphere Radiosounding (CLAR) database: for the three surface types an overall systematic uncertainty (median) of −0.4 K and a precision (robust standard deviation) 1.1 K were obtained. For the Sentinel-3A SLSTR operational LST product, a systematic uncertainty of 1.3 K and a precision of 1.3 K were obtained. A first evaluation of the Sentinel-3B SLSTR operational LST product was also performed: systematic uncertainty was 1.5 K and precision 1.2 K. The results obtained over the three land covers found at the rice paddy site show that the emissivity-dependent split-window algorithms, i.e., the ones proposed here as well as previously proposed algorithms without angular dependence, provide more accurate and precise LSTs than the current version of the operational SLSTR product

Selección de bombas en redes de riego a presión

[ES] Dada la aplicación cada vez más extendida de las redes colectivas de riego a la demanda, se presenta una herramienta de utilización general como ayuda a la toma de decisiones para el dimensionamiento y regulación de las estaciones de bombeo. Se trata de una aportación novedosa que trata de dar soluciones a un problema todavía sin resolver sobre el mejor equilibrio entre coste total (inversión y operación) y garantía de suministro. Para la selección del tipo y número de bombas de velocidad fija y variable se presenta un procedimiento fácil de implementar (Excel, Visual Basic), que proporciona la solución de menor coste total utilizando equipos existentes en el mercado. Los resultados indican que, es muy importante seleccionar correctamente el tipo de bomba que mejor seadapta a las necesidades de la demanda de la red, y que la solución de mínimo coste total es con una o dos bombas de velocidad variable y el resto de velocidad fija.Planells, P.; Carrión, P.; Ortega, JF.; Moreno, MA.; Tarjuelo Martín-Benito, JM. (2006). Selección de bombas en redes de riego a presión. Ingeniería del agua. 13(1):47-57. https://doi.org/10.4995/ia.2006.2881OJS4757131Awumah, K., Bhatt, S.K. and Goulter, I.C. (1989). An integer programming model for layout design of water distribution networks. Engineering Optimization, Vol. 15, pp.57-70Bethery J. 1990. Réseaux collectifs d'irrigation ramifiés sous pression. Calcul et fonctionnement. CEMAGREF. Etudes nº 6Bhave, P.R. and Lam, C.F. (1983). Optimal layout for branching distribution networks. Journal of Transportation Engineering (ASCE), Vol 109. Nº 4, pp. 534-547Clément, R. and Galand, A. (1986). El riego por aspersión y las redes colectivas de distribución a presión. Editores Técnicos Asociados.EPANET: Lewis A. Rossman (1997). Manual de Usuario de Epanet. Risk Reduction Engineering Laboratory Office of Research and Development U.S. Environmental Protection Agency. Cincinnati, OH.García-Serra, J. y Madalena, M. (1992). La inyección directa a red con grupos de velocidad fija y variable. Curso de ingeniería hidráulica aplicada a los sistemas de distribución de agua. U.D. de Mecánica de Fluidos, Servicio de Publicaciones de la Universidad Politécnica de Valencia. Tomo 2, Capítulo 17.Labye, Y., Olson, M.A., Galand, A. Y Tsourtis, N. (1988). Design and optimisation of irrigation distribution network. Irrigation and drainage paper nº 44. FAO.Lamaddalena N. (2000). Performance analysis of on-demand pressurized irrigation systems. Nº 59 de FAO, Serie de riegos y drenajes,Lansey, K.E., and Mays, L.W. (1989). Optimization model for water distribution system design. J. Hydraul. Eng., 115(10), 1401-1418.Martínez, F. y Vela, A. (1993). Regulación de estaciones de bombeo. Curso de Diseño hidráulico de redes de riego. U.D. de Mecánica de Fluidos, Servicio de Publicaciones de la Universidad Politécnica de Valencia. Capítulo 10.Moreno, M.A. (2005). Análisis hidráulico y energético de redes de riego a la demanda. Tesis doctoral. CREA y E.T.S.I. Agrónomos de Albacete. Universidad de Castilla-La Mancha (junio 2005).López-Luque, R., Reca, J., Camacho, E., Roldán, J. y Alcaide, M. (1995). Valoración energética y diseño óptimo de impulsiones con caudal variable. Ingeniería del Agua 2: 19-24.Mavropoulos, T.I. 1997. Sviluppo di una nuova formula per il calcolo delle portate de punta nelle reti irrigue don esercizio alla domanda. Riv. Di Irr. E Dren. 44(2):27-35.Planells, P., Tarjuelo, J.M., Ortega, F and Casanova, M.I. (2001). Design of water networks for on-demand irrigation. Irrig Sci 20:189-201Planells, P. y Tarjuelo, J.M. 2001. Generación aleatoria de curvas de demanda y sus aplicaciones. XIX Congreso Nacional de Riegos. Zaragoza, 12 a 14 de junio de 2001Pulido, I., R. López y J. Roldán. 1998. Caracterización horaria y estacional de la demanda en una red de distribución de agua para riego. XVI Congreso Nacional de Riegos. AERYD.Pulido-Calvo, I., Roldan, J., López-luque, R. and Gutiérrez-Estrada, J.C. (2003). Water delivery system planning considering irrigation simultaneity. Journal of Irrigation and Drainage Engineering 129(2), 247-25

The university stage does not favor the healthy life style in women students from Granada

Objetivo: La etapa universitaria conlleva una serie de cambios emocionales, fisiológicos y ambientales que van a determinar unas costumbres y hábitos de riesgoque en muchos casos serán mantenidos a lo largo de la vida y repercutirán en su estado de salud. El objetivo del presente estudio es analizar el estilo de vida (consumo de alcohol, tabaco y niveles de actividad física) de mujeres estudiantes de la Universidad de Granada. Metodología: Se trata de un estudio transversal/descriptivo y analítico en el que han participado 55 estudiantes de dos grupos de edad (18-24 y 25-31años). Se aplicó un cuestionario de estilo de vida evaluando el tipo de alcohol y frecuencia de consumo, cantidad de cigarrillos consumidos diariamente y niveles de actividad física (sedentaria, ligera, moderada e intensa). Resultados: El consumo de alcohol es mayor en el grupo de mayor edad, y con preferencia beben cerveza/vino, sin embargo el grupo más joven muestra un patrón de consumo centrado en los fines de semana siendo las bebidas destiladas las consumidas preferentemente. Una tercera parte de la población fuma con un incremento en el número de cigarros conforme aumenta la edad. Existe una correlación positiva entre tabaco y alcohol. El 88.9% del grupo de menor edad y el 52.7% del grupo de mayor edad tienen una actividad física sedentaria-ligera. Conclusión: Se sugiere la necesidad de concienciar a la población femenina universitaria sobre los beneficios del abandono del consumo de alcohol y tabaco y la práctica regular de ejercicio físico. Además, sería aconsejable desarrollar protocolos de intervención educativa en el ámbito universitario potenciando los hábitos de vida saludables.Objective: The university stage involves a series of emotional, physiological and environmental changes that will determine consumer patterns that, in many cases, will be maintained and will affect their health. The aim of this study is to analyze the lifestyle (alcohol and tobacco consumption, and levels of physical activity) of female students at the University of Granada. Several authors have noted that the student population is particularly vulnerable to develop risk customs and habits, since the period of university studies is often the time when students take first responsibility for determining their own styles and customs, which in many cases will be maintained throughout its entire life. Methodology: This is a cross / descriptive and analytical study in which 55 students participated in two age groups (18-24 and 25-31 years). A lifestyle-questionnaire was applied to evaluate the type and frequency of alcohol consumption, number of cigarettes smoked daily and physical activity levels (sedentary, light, moderate and severe). Results: Alcohol consumption is higher in the older group, and preferably drinks beer and wine; however the younger group shows a pattern of consumption centered on the weekends being preferably consumed distilled beverages. A third of the population smokes with an increase in the number of cigarettes as age increases. There is a positive correlation between snuff and alcohol. A direct positive correlation between tobacco and alcohol was observed. The 88.9% of lesser age group and 52.7% of higher age group show a sedentary-low physical activity. Conclusion: The need to sensitize the college female population on the benefits of no-consumption of alcohol and snuff, and regular physical exercise is suggested. It would also be advisable to develop protocols of educational intervention in universities promoting healthy living habits

Competiciones de programación. Estímulo y salida laboral para los alumnos

Las competiciones de programación son un estímulo importante para los alumnos de informática. Durante los últimos años ha crecido el número de estas competiciones en su mayoría promovidas por grandes empresas con el propósito de reclutar alumnos brillantes. La International Collegiate Programming Contest es la más antigua de ellas, promovida por la ACM y patrocinada por IBM. A la final mundial van los mejores equipos de cada una de las más de 90 competiciones regionales que tienen lugar por todo el mundo. La regional en la que pueden participar las universidades españolas es la Southwestern Europe Regional Contest (España, Italia, Portugal, Suiza, Francia y Austria). Esta regional fue organizada por la Escola Tècnica Superior d’Enginyeria Informàtica de la Universitat Politècnica de València en su edición de 2012 y lo será también en 2013. En este trabajo se presenta la experiencia de planificación de una regional, tanto a nivel organizativo como de planteamiento de los problemas para la competición. Asimismo, se destaca la importancia de este tipo de competiciones en cuanto al desarrollo de habilidades y destrezas en los alumnos, pues su dedicación a solucionar distintos tipos de problemas, combinando conocimientos de matemáticas con técnicas algorítmicas, les da una formación adicional que saben apreciar las grandes empresas. Algunos alumnos de la ETSInf que han participado en estas competiciones están en proceso o ya han sido contratados por empresas del sector como es Google.SUMMARY -- Programming contests are a good stimulus for computer engineering students. These contests have experienced an expansion during last years thanks to the interest of big companies for hiring brilliant students. The International Collegiate Programming Contest is the oldest one, promoted by ACM and sponsored by IBM. The ACM-ICPC World Final takes place every year, only the best teams can participate, which are selected from the ones who compete in the more than 90 regional contests celebrated around the world. Spanish universities can participate in the Southwestern Europe Regional Contest (Spain, Italy, Portugal, France and Austria). The 2012 edition of this regional contest took place in Valencia, organised by the School of Computer Engineering at the Universitat Politècnica de València. The 2013 edition will be organised in Valencia as well. In this paper it is presented the experience of planning a regional contest, both from the point of view of organisation as from posing the problems. Additionally, it is pointed out the value of this sort of programming contests as they foster the development of some abilities and skills in students, because the time they spend solving problems where the knowledge of mathematical concepts and of algorithmic techniques is very important. This fact gives students a special training very appreciated by big software companies. Some former students from ETSInf who participated in international programming contests were hired or are in process of being hired by Google

Crowdfunding in the Cultural Industries

publishedVersio

Evaluation of an Active Humidification System for Inspired Gas

ObjectivesThe effectiveness of the active humidification systems (AHS) in patients already weaned from mechanical ventilation and with an artificial airway has not been very well described. The objective of this study was to evaluate the performance of an AHS in chronically tracheostomized and spontaneously breathing patients.MethodsMeasurements were quantified at three levels of temperature (T°) of the AHS: level I, low; level II, middle; and level III, high and at different flow levels (20 to 60 L/minute). Statistical analysis of repeated measurements was performed using analysis of variance and significance was set at a P<0.05.ResultsWhile the lowest temperature setting (level I) did not condition gas to the minimum recommended values for any of the flows that were used, the medium temperature setting (level II) only conditioned gas with flows of 20 and 30 L/minute. Finally, at the highest temperature setting (level III), every flow reached the minimum absolute humidity (AH) recommended of 30 mg/L.ConclusionAccording to our results, to obtain appropiate relative humidity, AH and T° of gas one should have a device that maintains water T° at least at 53℃ for flows between 20 and 30 L/m, or at T° of 61℃ at any flow rate

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population

25 p. Figuras, tablas, bibliografíaHuntington disease (HD, MIM# 143100) is an autosomal dominant neurodegenerative disorder characterized clinically by progressive motor impairment, cognitive decline, and emotional deterioration. The disease is caused by the abnormal expansion of a CAG trinucleotide repeat in the first exon of the huntingtin gene in chromosome 4p16.3. HD is spread worldwide and it is generally accepted that few mutational events account for the origin of the pathogenic CAG expansion in most populations. We have investigated the genetic history of HD mutation in 83 family probands from the Land of Valencia, Eastern Spain. An analysis of the HD/CCG repeat in informative families suggested that at least two main chromosomes were associated in the Valencian population, one associated with allele 7 (77 mutant chromosomes) and one associated with allele 10 (2 mutant chromosomes). Haplotype A-7-A (H1) was observed in 47 out of 48 phase-known mutant chromosomes, obtained by segregation analysis, through the haplotype analysis of rs1313770-HD/CCGrs82334, as it also was in 120 out of 166 chromosomes constructed by means of the PHASE program. The genetic history and geographical distribution of the main haplotype H1 were both studied by constructing extended haplotypes with flanking STRs D4S106 and D4S3034. We found that we were able to determine the age of the CAG expansion associated with the haplotype H1 as being between 4,700 and 10,000 years ago. Furthermore, we observed a nonhomogenous distribution in the different regions associated with the different extended haplotypes of the ancestral haplotype H1, suggesting that local founder effects have occurred.This work was supported by the Fondo de investigación Sanitaria (FIS grant 01/1159), the Instituto de Salud Carlos III (grant G03/56) for the Spanish Network on Cerebellar Ataxias, and the Generalitat Valenciana (grant GRUPOS03/015).Peer reviewe

MicroRNAs in amniotic fluid and maternal blood plasma associated with sex determination and early gonad differentiation in cattle

We hypothesized that sexually dimorphic differences exist in the expression of miRNAs in amniotic fluid (AF) and maternal blood plasma (MP) in association with the process of sex determination and gonad differentiation in cattle. Amniotic fluid and MP were collected from six pregnant heifers (three carrying a single male and three a single female embryo) following slaughter on Day 39 postinsemination, coinciding with the peak of SRY expression. Samples (six AF and six MP) were profiled using an miRNA Serum/Plasma Focus PCR Panel. Differentially expressed (DE) miRNAs were identified in AF (n = 5) and associated MP (n = 56) of male vs. female embryos (P < 0.05). Functional analysis showed that inflammatory and immune response were among the 13 biological processes enriched by miRNAs DE in MP in the male group (FDR < 0.05), suggesting that these sex-dependent DE miRNAs may be implicated in modulating the receptivity of the dam to a male embryo. Further, we compared the downstream targets of the sex-dependent DE miRNAs detected in MP with genes previously identified as DE in male vs. female genital ridges. The analyses revealed potential targets that might be important during this developmental stage such as SHROOM2, DDX3Y, SOX9, SRY, PPP1CB, JARID2, USP9X, KDM6A, and EIF2S3. Results from this study highlight novel aspects of sex determination and embryo-maternal communication in cattle such as the potential role of miRNAs in gonad development as well as in the modulation of the receptivity of the dam to a male embryo.Grant Support. Supported by Science Foundation Ireland (13/IA/1983) and grant RTI2018–093548-BI00 from the Spanish Ministry of Science and Innovation. IG-R was supported by a predoctoral fellowship from the Spanish Ministry of Science and Innovation (BES-2016-077794), and BP was supported by a Marie Sklodowska-Curie ITN European Joint Doctorate in Biology and Technology of Reproductive Health (REP-BIOTECH 675526).Peer reviewe