78 resultados para causal modelin
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Introducción: En los últimos años se han producido avances importantes en el campo de la autoprotección ante las infecciones. Por parte de los docentes que imparten temas relacionados con el campo de la autoprotección del personal de salud y la higiene en las diferentes carreras de ciencias de la salud en el Campus de Bellvitge (CB) de la Universitat de Barcelona (UB) se detectó un desconocimiento y/o confusión de materias relacionadas con la seguridad del paciente y de los profesionales. Objetivo: Mejorar la preparación de los estudiantes de Ciencias de la Salud del CB de la UB en relación con las medidas higiénicas básicas. Material y Método: Estudio de campo, causal y comparativo. Se estableció un grupo formado por los profesores implicados en estas materias para unificar criterios y llevar a cabo un análisis de la situación exhaustiva. Se hicieron entrevistas semiestructuradas a dos estudiantes de cada carrera que fueron registradas y transcritas textualmente por el análisis posterior (Atlas/Ti19). Resultados y Discusión: Del análisis de los discursos surgieron cuatro categorías: 1) El aprendizaje; los estudiantes destacan la falta de consenso entre profesores y la enseñanza demasiado teórica. 2) La experiencia laboral; los estudiantes destacan la divergencia entre la teoría y la práctica. 3) Los argumentos personales; los estudiantes relacionan las medidas con situaciones de excepcionalidad (técnicas muy invasivas) está omnipresente el discurso de"no hacer daño al paciente". 4) Las características propias de las diferentes carreras universitarias; hemos registrado percepciones de los riesgos diferentes entre ellas. Conclusiones: La formación en medidas preventivas y de higiene está contemplada en los planes de estudio como una formación puntual y no lineal en las carreras. Los estudiantes la perciben como una formación necesaria dado su grado de inexperiencia, pero que no es necesaria cuando se adquieren ciertas destrezas. Por lo que respeta a los centros de salud como a los hospitales no hay un consenso en la obligatoriedad que todos los profesionales adopten estas medidas a la práctica diaria y algunas veces los criterios entre teoría y práctica son divergentes.
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Introducción: En los últimos años se han producido avances importantes en el campo de la autoprotección ante las infecciones. Por parte de los docentes que imparten temas relacionados con el campo de la autoprotección del personal de salud y la higiene en las diferentes carreras de ciencias de la salud en el Campus de Bellvitge (CB) de la Universitat de Barcelona (UB) se detectó un desconocimiento y/o confusión de materias relacionadas con la seguridad del paciente y de los profesionales. Objetivo: Mejorar la preparación de los estudiantes de Ciencias de la Salud del CB de la UB en relación con las medidas higiénicas básicas. Material y Método: Estudio de campo, causal y comparativo. Se estableció un grupo formado por los profesores implicados en estas materias para unificar criterios y llevar a cabo un análisis de la situación exhaustiva. Se hicieron entrevistas semiestructuradas a dos estudiantes de cada carrera que fueron registradas y transcritas textualmente por el análisis posterior (Atlas/Ti19). Resultados y Discusión: Del análisis de los discursos surgieron cuatro categorías: 1) El aprendizaje; los estudiantes destacan la falta de consenso entre profesores y la enseñanza demasiado teórica. 2) La experiencia laboral; los estudiantes destacan la divergencia entre la teoría y la práctica. 3) Los argumentos personales; los estudiantes relacionan las medidas con situaciones de excepcionalidad (técnicas muy invasivas) está omnipresente el discurso de"no hacer daño al paciente". 4) Las características propias de las diferentes carreras universitarias; hemos registrado percepciones de los riesgos diferentes entre ellas. Conclusiones: La formación en medidas preventivas y de higiene está contemplada en los planes de estudio como una formación puntual y no lineal en las carreras. Los estudiantes la perciben como una formación necesaria dado su grado de inexperiencia, pero que no es necesaria cuando se adquieren ciertas destrezas. Por lo que respeta a los centros de salud como a los hospitales no hay un consenso en la obligatoriedad que todos los profesionales adopten estas medidas a la práctica diaria y algunas veces los criterios entre teoría y práctica son divergentes.
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Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.
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Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.
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Background: Aging results in a progressive loss of skeletal muscle, a condition known as sarcopenia. Mitochondrial DNA (mtDNA) mutations accumulate with aging in skeletal muscle and correlate with muscle loss, although no causal relationship has been established. Methodology/Principal Findings: We investigated the relationship between mtDNA mutations and sarcopenia at the gene expression and biochemical levels using a mouse model that expresses a proofreading-deficient version (D257A) of the mitochondrial DNA Polymerase c, resulting in increased spontaneous mtDNA mutation rates. Gene expression profiling of D257A mice followed by Parametric Analysis of Gene Set Enrichment (PAGE) indicates that the D257A mutation is associated with a profound downregulation of gene sets associated with mitochondrial function. At the biochemical level, sarcopenia in D257A mice is associated with a marked reduction (35–50%) in the content of electron transport chain (ETC) complexes I, III and IV, all of which are partly encoded by mtDNA. D257A mice display impaired mitochondrial bioenergetics associated with compromised state-3 respiration, lower ATP content and a resulting decrease in mitochondrial membrane potential (Dym). Surprisingly, mitochondrial dysfunction was not accompanied by an increase in mitochondrial reactive oxygen species (ROS) production or oxidative damage. Conclusions/Significance: These findings demonstrate that mutations in mtDNA can be causal in sarcopenia by affecting the assembly of functional ETC complexes, the lack of which provokes a decrease in oxidative phosphorylation, without an increase in oxidative stress, and ultimately, skeletal muscle apoptosis and sarcopenia.
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Background: The main goal of the present study was to analyse the genetic architecture of mRNA expression in muscle, a tissue with an outmost economic importance for pig breeders. Previous studies have used F2 crosses to detect porcine expression QTL (eQTL), so they contributed with data that mostly represents the between-breed component of eQTL variation. Herewith, we have analysed eQTL segregation in an outbred Duroc population using two groups of animals with divergent fatness profiles. This approach is particularly suitable to analyse the within-breed component of eQTL variation, with a special emphasis on loci involved in lipid metabolism. Methodology/Principal Findings: GeneChip Porcine Genome arrays (Affymetrix) were used to determine the mRNA expression levels of gluteus medius samples from 105 Duroc barrows. A whole-genome eQTL scan was carried out with a panel of 116 microsatellites. Results allowed us to detect 613 genome-wide significant eQTL unevenly distributed across the pig genome. A clear predominance of trans- over cis-eQTL, was observed. Moreover, 11 trans-regulatory hotspots affecting the expression levels of four to 16 genes were identified. A Gene Ontology study showed that regulatory polymorphisms affected the expression of muscle development and lipid metabolism genes. A number of positional concordances between eQTL and lipid trait QTL were also found, whereas limited evidence of a linear relationship between muscle fat deposition and mRNA levels of eQTL regulated genes was obtained. Conclusions/Significance: Our data provide substantial evidence that there is a remarkable amount of within-breed genetic variation affecting muscle mRNA expression. Most of this variation acts in trans and influences biological processes related with muscle development, lipid deposition and energy balance. The identification of the underlying causal mutations and the ascertainment of their effects on phenotypes would allow gaining a fundamental perspective about how complex traits are built at the molecular level.
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A common belief is that further quantum corrections near the singularity of a large black hole should not substantially modify the semiclassical picture of black hole evaporation; in particular, the outgoing spectrum of radiation should be very close to the thermal spectrum predicted by Hawking. In this paper we explore a possible counterexample: in the context of dilaton gravity, we find that nonperturbative quantum corrections which are important in strong-coupling regions may completely alter the semiclassical picture, to the extent that the presumptive spacelike boundary becomes timelike, changing in this way the causal structure of the semiclassical geometry. As a result, only a small fraction of the total energy is radiated outside the fake event horizon; most of the energy comes in fact at later retarded times and there is no problem of information loss. This may constitute a general characteristic of quantum black holes, that is, quantum gravity might be such as to prevent the formation of global event horizons.
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Little is known about how genetic and environmental factors contribute to the association between parental negativity and behavior problems from early childhood to adolescence. The current study fitted a cross-lagged model in a sample consisting of 4,075 twin pairs to explore (a) the role of genetic and environmental factors in the relationship between parental negativity and behavior problems from age 4 to age 12, (b) whether parent-driven and child-driven processes independently explain the association, and (c) whether there are sex differences in this relationship. Both phenotypes showed substantial genetic influence at both ages. The concurrent overlap between them was mainly accounted for by genetic factors. Causal pathways representing stability of the phenotypes and parent-driven and child-driven effects significantly and independently account for the association. Significant but slight differences were found between males and females for parent-driven effects. These results were highly similar when general cognitive ability was added as a covariate. In summary, the longitudinal association between parental negativity and behavior problems seems to be bidirectional and mainly accounted for by genetic factors. Furthermore, child-driven effects were mainly genetically mediated, and parent-driven effects were a function of both genetic and shared-environmental factors.
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Introduction. Genetic epidemiology is focused on the study of the genetic causes that determine health and diseases in populations. To achieve this goal a common strategy is to explore differences in genetic variability between diseased and nondiseased individuals. Usual markers of genetic variability are single nucleotide polymorphisms (SNPs) which are changes in just one base in the genome. The usual statistical approach in genetic epidemiology study is a marginal analysis, where each SNP is analyzed separately for association with the phenotype. Motivation. It has been observed, that for common diseases the single-SNP analysis is not very powerful for detecting genetic causing variants. In this work, we consider Gene Set Analysis (GSA) as an alternative to standard marginal association approaches. GSA aims to assess the overall association of a set of genetic variants with a phenotype and has the potential to detect subtle effects of variants in a gene or a pathway that might be missed when assessed individually. Objective. We present a new optimized implementation of a pair of gene set analysis methodologies for analyze the individual evidence of SNPs in biological pathways. We perform a simulation study for exploring the power of the proposed methodologies in a set of scenarios with different number of causal SNPs under different effect sizes. In addition, we compare the results with the usual single-SNP analysis method. Moreover, we show the advantage of using the proposed gene set approaches in the context of an Alzheimer disease case-control study where we explore the Reelin signal pathway.
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Our research aims to analyze the causal relationships in the behavior of public debt issued by peripheral member countries of the European Economic and Monetary Union -EMU-, with special emphasis on the recent episodes of crisis triggered in the eurozone sovereign debt markets since 2009. With this goal in mind, we make use of a database of daily frequency of yields on 10-year government bonds issued by five EMU countries -Greece, Ireland, Italy, Portugal and Spain-, covering the entire history of the EMU from its inception on 1 January 1999 until 31 December 2010. In the first step, we explore the pair-wise causal relationship between yields, both for the whole sample and for changing subsamples of the data, in order to capture the possible time-varying causal relationship. This approach allows us to detect episodes of contagion between yields on bonds issued by different countries. In the second step, we study the determinants of these contagion episodes, analyzing the role played by different factors, paying special attention to instruments that capture the total national debt -domestic and foreign- in each country.
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The causal mechanism and seasonal evolution of the internal wave field in a deep, warm, monomictic reservoirare examined through the analysis of field observations and numerical techniques. The study period extends fromthe onset of thermal stratification in the spring until midsummer in 2005. During this time, wind forcing wasperiodic, with a period of 24 h (typical of land–sea breezes), and the thermal structure in the lake wascharacterized by the presence of a shallow surface layer overlying a thick metalimnion, typical of small to mediumsized reservoirs with deep outtakes. Basin-scale internal seiches of high vertical mode (ranging from mode V3 toV5) were observed in the metalimnion. The structure of the dominant modes of oscillation changed asstratification evolved on seasonal timescales, but in all cases, their periods were close to that of the local windforcing (i.e., 24 h), suggesting a resonant response. Nonresonant oscillatory modes of type V1 and V2 becamedominant after large frontal events, which disrupted the diurnal periodicity of the wind forcing
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This article explores whether use of the Internetchanges the role that political motivation hastraditionally played in classic explanations ofparticipation. We ask if, by reducing so dramatically the costs of political participation,the Internet causes interest in politics to loseimportance as a causal factor of participation.We examine this issue analysing a representativesurvey of the Spanish population which deals withpolitical participation and Internet use. Theresults show that use of Internet has a directeffect on participation independently of motivation, and that, in order to participate online, skilled Internet users do not need to be motivated or interested in politics.
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This study attempts to identify and trace inter-linkages between sovereign and banking risk in the euro area. To this end, we use an indicator of banking risk in each country based on the Contingent Claim Analysis literature, and 10-year government yield spreads over Germany as a measure of sovereign risk. We apply a dynamic approach to testing for Granger causality between the two measures of risk in 10 euro area countries, allowing us to check for contagion in the form of a significant and abrupt increase in short-run causal linkages. The empirical results indicate that episodes of contagion vary considerably in both directions over time and within the different EMU countries. Significantly, we find that causal linkages tend to strengthen particularly at the time of major financial crises. The empirical evidence suggests the presence of contagion, mainly from banks to sovereigns.
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Comparative genomics of several strains of Erwinia amylovora, a plant pathogenic bacterium causal agent of fire blight disease, revealed that its diversity is primarily attributable to the flexible genome comprised of plasmids. We recently identified and sequenced in full a novel 65.8 kb plasmid, called pEI70. Annotation revealed a lack of known virulence-related genes, but found evidence for a unique integrative conjugative element related to that of other plant and human pathogens. Comparative analyses using BLASTN showed that pEI70 is almost entirely included in plasmid pEB102 from E. billingiae, an epiphytic Erwinia of pome fruits, with sequence identities superior to 98%. A duplex PCR assay was developed to survey the prevalence of plasmid pEI70 and also that of pEA29, which had previously been described in several E. amylovora strains. Plasmid pEI70 was found widely dispersed across Europe with frequencies of 5–92%, but it was absent in E. amylovora analyzed populations from outside of Europe. Restriction analysis and hybridization demonstrated that this plasmid was identical in at least 13 strains. Curing E. amylovora strains of pEI70 reduced their aggressiveness on pear, and introducing pEI70 into low-aggressiveness strains lacking this plasmid increased symptoms development in this host. Discovery of this novel plasmid offers new insights into the biogeography, evolution and virulence determinants in E. amylovora
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L’objectiu d’aquesta treball és proposar un model de relacions causals i unes hipòtesis de treball sobre la lleialtat dels turistes a les destinacions transfrontereres en el context de la Unió Europea