Epidemiología de los defectos estructurales cardiacos en una población infantil

Introducción: Las cardiopatías congénitas son una patología de importancia clínica y social, debido a su relativa frecuencia, su impacto sobre la vida del paciente y sus familias, el coste económico que generan y las grandes mejoras que se están consiguiendo en la calidad y esperanza de vida de estos pacientes, gracias a los avances de la cirugía cardíaca, cardiología pediátrica y de los cuidados intensivos pediátricos. Las cardiopatías congénitas son anomalías poco frecuentes en la población general, con una incidencia de entre al 0,8-1% en la población general. Sin embargo, en los casos de los defectos más graves, la mortalidad continúa siendo elevada y la morbilidad importante por lo que, debido a ello, consideramos que son lo suficientemente importantes para realizar un estudio con el objetivo de conocer sus principales características epidemiológicas en nuestra población. Material y métodos: Se trata de un estudio retrospectivo, de tipo descriptivo en el que se incluyen todos aquellos pacientes de entre 0 y 16 años a los cuales se atendió en la consulta de alta resolución de Cardiología Infantil del Hospital Clínico Universitario “Lozano Blesa” de Zaragoza entre enero de 2010 y diciembre de 2012. Se analizaron las principales características epidemiológicas y los hallazgos más frecuentes del conjunto de la muestra y posteriormente con el objetivo de minimizar la amplitud de la distribución de la muestra, se realizó una estratificación por grupos de edad. Resultados: Se seleccionaron para el estudio 1529 pacientes, atendidos en la consulta. La muestra fue homogénea en cuanto a su distribución por sexos, con un 52,9% (809) de varones, siendo el 47,1% (720) mujeres. La edad media de los pacientes incluidos fue de 4,39 años. El principal motivo de consulta fue la evidencia de un soplo en la auscultación y hasta el 42,4% (649) de los pacientes de la muestra fueron remitidos a la consulta de cardiología desde los centros de Atención Primaria. Los principales defectos hallados en la ecocardiografía fueron los defectos del tabique interventricular en un 6,5% (99) de los casos, seguidos de los defectos del tabique interauricular que representan el 5,8% (89) y las valvulopatías con un 5,2% (80) de la muestra total. Conclusiones: En relación al conjunto de la muestra el principal lugar de procedencia fueron los Centros de Salud de Atención Primaria, siendo el principal motivo de consulta el haber escuchado un soplo en la auscultación. Hasta en el 60% de los casos la ecocardiografía es normal, siendo frecuente el diagnóstico de soplo funcional especialmente entre los pacientes de mayor edad. Actualmente la ecocardiografía continúa siendo la técnica de elección para valorar tanto anatómica como funcionalmente el corazón de un paciente asintomático con un soplo en la auscultación

NWCSAF GEO v2016 : new products, changes and improvements

Ponencia presentada en: 2016 EUMETSAT Meteorological Satellite Conference, 26-30 September 2016, Darmstadt, GermanyThe objective of the Nowcasting Satellite Application Facility (NWC SAF) is the generation of satellite derived products for their direct application to Nowcasting for targeted users. To achieve this goal, the NWC SAF team develops, maintains and distributes software packages that allows the users to generate, at their premises and for the user defined area, satellite derived products with a direct application to Nowcasting. The NWC SAF distributes two different software packages for GEO and LEO satellites. Current operational software package for GEO satellites is MSG v2013, distributed in 2013 and applicable to MSG data. Products generated with MSG v2013 include Cloud Products (Cloud Mask, Cloud Top Temperature and Height, Cloud Type, Cloud phase), Precipitation Products (Probability of Precipitation and Convective Rainfall Rate and Probability of Precipitation and Convective Rainfall Rate from Cloud Microphysics), High Resolution Winds (HRW), Water content and Instability Indices, Automatic Satellite Image Interpretation and detection and tracking of Rapidly Developing Convective Cells. A new software package, GEO v2016, has been distributed in November 2016. Main changes and improvements of GEO v2016 respect to previous operational SW package MSG v2013 are highlighted in this paper

NWCSAF GEO v2016 : new products, changes and improvements

Póster presentado en: 2016 EUMETSAT Meteorological Satellite Conference, 26-30 September 2016, Darmstadt, GermanyThe objective of the Nowcasting Satellite Application Facility (NWC SAF) is the generation of satellite derived products for their direct application to Nowcasting for targeted users. To achieve this goal, the NWC SAF team develops, maintains and distributes software packages that allows the users to generate, at their premises and for the user defined area, satellite derived products with a direct application to Nowcasting. The NWC SAF distributes two different software packages for GEO and LEO satellites. Current operational software package for GEO satellites is MSG v2013, distributed in 2013 and applicable to MSG data. Products generated with MSG v2013 include Cloud Products (Cloud Mask, Cloud Top Temperature and Height, Cloud Type, Cloud phase), Precipitation Products (Probability of Precipitation and Convective Rainfall Rate and Probability of Precipitation and Convective Rainfall Rate from Cloud Microphysics), High Resolution Winds (HRW), Water content and Instability Indices, Automatic Satellite Image Interpretation and detection and tracking of Rapidly Developing Convective Cells. A new software package, GEO v2016, has been distributed in November 2016. Main changes and improvements of GEO v2016 respect to previous operational SW package MSG v2013 are highlighted in this paper

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM -/- patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

Primeras jornadas Iperinas: presentación de nuevas líneas de investigación del Instituto Pirenaico de Ecología (CSIC)

16 páginas, 2 figuras[ES] En diciembre de 2012, se celebraron las primeras Jornadas IPErinas, reunión que permitió compartir al personal del Instituto Pirenaico de Ecología (CSIC), muchos de los trabajos de investigación que actualmente se están llevando a cabo por los distintos grupos del centro. Estas Jornadas surgieron de la necesidad de compartir y difundir los principales objetivos y resultados más relevantes de nuevas líneas de investigación desarrolladas actualmente en el centro, como parte fundamental de la comunicación científica y transferencia de conocimiento a la sociedad. Bajo estas líneas, se presenta una reseña de la las primeras Jornadas IPErinas, a través de un breve resumen de las charlas presentadas.[EN] In December 2012, the first Jornadas IPErinas took place at the Pyrenean Institute of Ecology (CSIC). The aim of this meeting was to show many of the new research topics that nowadays are being developed in the Institute. This workshop grew out of the need to disseminate the main new research lines developed at the center, as a fundamental part of scientific communication and knowledge transfer to society. In this paper, we briefly review the topics presented in the first meeting Jornadas IPErinas, summarizing the oral contributions.Peer reviewe