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¿Qué es una enfermedad rara?
Get PDFEnfermedades Raras en Asturias. Dirección General de Salud Pública y Participación. Informes breves 01Defining what is meant by rare diseases.Definición de lo que se entiende por enfermedades raras
Assessing diversity losses due to selection for coat colour in the endangered bay-Asturcón pony using microsatellites
Get PDFThe bay-Asturcon pony (A21) population recovery started recently. A total of 297 samples (180 from founder individuals) belonging to the A21 population were genotyped for: a) a set of 15 microsatellites: and b) the presence of the two recessive chestnut alleles reported in the literature (e and e(a)) on the MC1r gene (locus Extension) and the deletion on the ASIP gene (locus Agouti) associated with recessive black coat in horses. The extent to which the genetic variability of the A21 population could be affected by selection strategies aimed at decreasing the frequency of the chestnut allele was quantified in terms of gene diversity and allelic richness. The possible genetic impact of a controlled introgression of A21 offspring into the black-coated Asturcon (A20) population was also assessed using 261 available A20 genotypes. The wild alleles for the Extension and Agouti loci (E and A. respectively) were the most frequent (77.8% and 59.4%) in the A21 population. Both the e and ea recessive chestnut alleles were identified with frequencies of 21.2% and 1.0%. As expected, the contribution to overall diversity of the founder subpopulation was always higher than that of the A21 offspring subpopulation. Total contribution of the offspring subpopulation to overall allelic richness was negative (-1.84%), showing that all their alleles were present in the founder subpopulation. Although favourable, the chestnut carrier individuals had poor contributions to overall gene diversity and tended to have negative contributions to allelic richness. The elimination of the chestnut carrier A21 individuals would not affect genetic variability to a significant extent. Therefore, efforts for preserving the genetic variability in the A21 population could focus on a careful planning of matings between individuals free of the recessive chestnut alleles. The expected influence of a controlled introgression of A21 offspring on the genetic variability of the A20 population was always favourable. The gene diversity of the introgressed population was higher than that of the original A20 population for both gene diversity (GDT = -1.2%+/- 0.04%) and, particularly, allelic richness (C-T = 4.9%+/- 0.27%). Very limited gene flow may increase the number of alleles of the A20 population but also would yield a balance of the allelic frequencies at a population level. Therefore, a common breeding policy for the two Asturcon pony populations may ensure the viability of this prominent genetic resourceMinisterio de Ciencia e Innovación (MICIN)-INIA RZ2008-0001
Análisis de la asociación entre las prácticas de trabajo de alto rendimiento y la motivación de los trabajadores por cuenta ajena del sector privado español
No full textThis research work analyzes the association between the level of motivation of private sector employees in Spain and a number of human resource management high-performance work practices, namely selection and training policies and economic and career incentives. To this end, five hypotheses are developed from a literature review and tested on the basis of a dataset drawn from the 2010 Quality of Life at Work Survey, provided by the Statistics Section of the Ministry of
Work and Immigration. The analysis finds statistically significant associations between motivation and each of the other variables studied. Furthermore, it establishes the existence of positive associations between workers motivation and both selection and training practices, as well as between motivation and economic and career incentives. Future avenues of research are suggested in the conclusions section.Este trabajo de investigación analiza la asociación entre el nivel de motivación de los empleados del sector privado en España y una serie de prácticas de trabajo de alto rendimiento de recursos humanos, tales como políticas de selección, de formación, incentivos económicos e incentivos profesionales. Con este fin, se desarrollan cinco hipótesis a partir de una revisión de la literatura y se contrastan sobre la base de un conjunto de datos extraídos de la Encuesta de Calidad de Vida en el Trabajo 2010 (*), confeccionada por la Subdirección General de Estadística del Ministerio de Trabajo e Inmigración. El análisis muestra asociaciones estadísticamente significativas
entre la motivación y el resto de variables consideradas y además es concluyente a la hora de establecer la existencia de asociaciones positivas entre las prácticas de selección, de formación y de incentivos profesionales con la motivación de los trabajadores. En la sección de conclusiones
se sugieren futuras vías de investigación
Vascular Calcification in Patients with Chronic Kidney Disease: Types, Clinical Impact and Pathogenesis
No full textVascular calcification plays a major role in cardiovascular disease, which is one of the main causes of mortality in chronic kidney disease patients. Vascular calcification is determined by prevalent traditional and uraemia-related (non-traditional) risk factors. It occurs mainly in the arteries, which are classified into three types according to their size and structural characteristics. In addition, vascular calcification has been associated with bone loss and fractures in chronic kidney disease patients and the general population, stressing the fact that both disorders can share pathogenetic pathways. The strategies to control vascular calcification involve several
measures, chief among them the control of hyperphosphataemia.
Furthermore, it has been recently described that strategies that reduce bone resorption and increase bone mineralization may decrease the risk of vascular calcifications;however, this approach still remains controversial. The
mechanisms involved in vascular calcification are complex and not yet fully understood. Phosphorus plays a major role,while other factors related to bone formation have been recently identified.The authors wish to thank the Fondo de Investigaciones Sanitarias,
REDinREN del ISCIII (Redes Temáticas de Investigación Cooperativa en Salud; RD06/0016/1013), FYCIT (Fundación para el Fomento en Asturias de la Investigación Científica Aplicada y la Tecnología) and Fundación Renal Iñigo Álvarez de Toledo (Spain
DNA variation in myoMIRs of the 1, 133, and 208 families in hypertrophic cardiomyopathy
No full textMicroRNAs (miRNAs) are small RNAs that bind to mRNAs and regulate gene expression. MyoMirs are miRNAs implicated in cardiogenesis. Some MyoMirs have been found deregulated in hearts from patients with left ventricular hypertrophy (LVH). DNA variants at these miRNAs could contribute to the risk
of developing hypertrophic cardiomyopathy (HCM). To test this hypothesis we used single strand conformation analysis and direct sequencing to search for DNA variants in the mir-208a, miR-208b, miR-133a-1, miR-133a-2, miR-133b, miR-1-1, and miR-1-2 genes in patients with HCM (n=245), LVH secondary to hypertension (n=120), and healthy controls (n=250). We found several nucleotide variants. Genotyping of patients and healthy controls showed significantly associations between a 133a-1 polymorphism and HCM and a 133b polymorphism and hypertensive-LVH. We concluded that rare variants in these mature miRNAs would be rarely found among HCM patients, but miR-133a-1 and 133b polymorphisms could contribute to the risk of developing cardiac hypertrophy.this work was supported by grants from the Spanish Fondo de Investigaciones Sanitarias-Fondos FEDER European Union (FIS-00/0172), and Red de Investigación Renal-REDINREN (RD06/0016). MP a predoctoral fellow from FICYT-Principado de Asturias. MD is the recipient of a Contrato de Apoyo a la Investigación- Fondo de Investigaciones Sanitarias
Taller de terapia de grupo en enfermos con lesiones medulares
No full textXII Jornada de Residentes de Salud MentalLa aplicación de un programa de terapia de grupo dirigido a pacientes con lesiones medulares mejorará el proceso de adaptación a la Lesión Medular
Los enemigos naturales de los pulgones
No full textLos pulgones se alimentan de la mayoría de los cultivos agrícolas y forestales, aunque gracias a la acción de los enemigos naturales sólo en casos puntuales se convierten en verdaderas plagas. Conocer, reconocer y facilitar la presencia de los agentes que atacan a los pulgones es el primer paso para lograr unos cultivos más sanos y libres de residuos pesticidas
Actuaciones complementarias a los desbroces y quemas controladas
No full textAnte la máxima de que la mejor forma de apagar un incendio es evitar que se produzca, a lo largo del tiempo se han puesto en marcha distintas líneas de trabajo en la prevención de los mismos, entre los que figuran la creación de cortafuegos y realización de desbroces en terrenos de monte, y también, de quemas controlada
Nuevos proyectos de I+D+i
No full textProyectos de investigación de las distintas Áreas de Investigación del SERIDA con distintas entidades financiadoras: Ministerio de Ciencia e Innovación, Consejeria de Educación y Ciencia, Consejería de Medio Rural y Pesca... etc
Gene amplification and protein overexpression of EGFR and ERBB2 in sinonasal squamous cell carcinoma
No full textBackground: Sinonasal squamous cell carcinomas (SNSCC) are rare tumors with no etiological link to tobacco and alcohol, as opposed to other squamous cell carcinomas of the head and neck. Despite improvements in the field of surgery and radiotherapy, patients with these tumors still face a very unfavorable prognosis, partly due to its localization in a complex anatomical area, which is of special relevance for surgery and postoperative treatment. Therefore, there is a need for new therapeutic possibilities for this tumor type.
Methods: Gene copy numbers of epidermal growth factor receptor (EGFR) and erythroblastic leukemia viral oncogene homolog 2 (ERBB2) were analyzed by FISH and MLPA and protein expression was evaluated by immunohistochemistry in 54 specimens SNSCC and the results were correlated with clinico-pathological and follow-up data.
Results: EGFR gene copy number increase were observed in 20/45 (44%) cases, and 21/54 (39%) tumors showed EGFR protein overexpression. Eight of 38 tumors (21%) showed ERBB2 copy number increase, and 4/54 (7%) exhibited elevated protein expression levels. Both copy number increase and protein overexpression of EGFR and ERBB2 were mutually exclusive. KRAS mutations were absent in 37 cases analyzed.
Conclusion: A substancial proportion of SNSCC carry alterations in EGFR or ERBB2. Together with the absence of KRAS mutations, these findings indicate that therapies targeting these molecules could be a promising addition to the therapeutical options for these tumors.This work was supported by grants PI05-1387, PI08-1599 and EMER07-048 of Fondos de Investigación Sanitaria (FIS) and RD06/0020/0034 of Red Temática de Investigación Cooperativa en Cáncer (RTICC), Spain