Identifying the parent-of-origin of de novo SNVs in schizophrenia

Several studies over the last few years have shown that newly arising (de novo) mutations contribute to the genetics of schizophrenia (SZ), autism (ASD) and other developmental disorders. The strongest evidence comes from studies of de novo Copy Number Variation (CNV), where the rate of new mutations is shown to be increased in cases when compared to controls [23, 24]. Research on de novo point mutations and small insertion-deletions (indels) has been more limited, but with the development of next-generation sequencing (NGS) technology, such studies are beginning to provide preliminary evidence that de novo single-nucleotide mutations (SNVs) might also increase risk of SZ and ASD [25, 26] Advanced paternal age is a major source of new mutations in human beings [27] and could thus be associated with increased risk for developing SZ, ASD or other developmental disorders. Indeed, advanced paternal age is found to be a risk factor for developing SZ and ASD in the offspring [28, 29] and new mutations related to advanced paternal age have been implicated as a cause of sporadic cases in several autosomal dominant diseases, some neurodevelopmental diseases, including SZ and ASD, and social functioning. New single-base substitutions occur at higher rates at males compared to females and this difference increases with paternal age. This is due to the fact that sperm cells go through a much higher number of cell divisions (~840 by the age of 50), which increases the risk for DNA copy errors in the male germ line [30] . By contrast, the female eggs (oocytes) undergo only 24 cell divisions and all but the last occur during foetal life. The aim of my project is to determine the parent-of-origin of de novo SNVs, using large samples of parent-offspring trios affected with schizophrenia (SZ). From whole exome sequencing of 618 Bulgarian proband-offspring trios affected, nearly 1000 de novo (SNVs or small indels) have been identified and from these, the parent-of-origin of at least 60% of the mutations (N=600) can be established. This project is contained in a main one that consists on the determination of the parental origin of different types of de novo mutations (SNVs, small indels and large CNVs).

Genetic variation for carbon isotope composition in Juglans regia L.: relationships with growth, phenology and climate of origin

Among the traits of breeding interest for the common walnut tree Juglans regia L., characteristics such as timing of budbreak and leaf fall, water-use efficiency and growth performance are regarded as being of utmost relevance in Mediterranean conditions. The authors evaluated intraspecific variation in $\delta$13C (carbon isotope composition, surrogate of intrinsic water-use efficiency, WUE$_{\rm i}$) for 22 J. regia families grown in a progeny test under supplementary irrigation, and investigated whether such variation correlated with climatic indicators of native habitats. The genetic relationships between $\delta$13C, growth and phenology were also assessed during two consecutive years. Overall, the most water-use-efficient families (i.e. with higher $\delta$13C), which originated mainly from drought-prone provenance regions which have a high vapour pressure deficit and low rainfall, exhibited less height growth and smaller DBH. Using a stepwise regression procedure, $\delta$13C was included as the main explanatory variable of genotypic variation in growth traits, together with growing season duration (for DBH in both years) and flushing (for height in 2007). It was concluded that WUE$_{\rm i}$ is largely unconnected to phenology effects in the explanation of growth performance for J. regia, therefore suggesting the opportunity of simultaneously selecting for low WUE$_{\rm i}$ and extended growing period to maximise productivity in non-water-limited environments.

From trade to industry. The wine production sector in the Penedès Denomination of Origin, 1940-2000

[cat] Aquest treball té com a objectiu mostrar el grau en què el sector de la producció de vi a la Denominació d'Origen Penedès ha respost als reptes que s’han plantejat tant en termes de l'oferta (de consolidació i sorgiment dels països productors fora de l'esfera europea tradicional) i de la demanda (caiguda de la el consum de vi i els nous hàbits de consum) durant la segona meitat del segle XX. El document analitza l'evolució del sector a la regió des del començament de la dècada de 1940 fins a la fi del segle. Amb la fi de la Guerra Civil de 1936-1939 el sector va haver d'afrontar una caiguda de la producció, la qual va continuar concentrant-se en la comercialització de vins tradicionals. Aquesta situació va canviar quan, a finals de la dècada de 1960, la demanda es va girar cada vegada més als vins de major qualitat embotellats. Des del punt de vista legislatiu, la resposta es va centrar en la innovació tecnològica i la reestructuració de l'empresa. Aquest període va ser testimoni de la introducció de nous equips i processos, com ara l’acer inoxidable i tancs de fermentació a temperatura controlada, amb els vins embotellats expulsant el vi a granel i la transformació dels grans magatzemistes en cellers i caves. A més, una de les principals característiques del període 1970-1985 va ser la formació dels grans conglomerats empresarials dels vins i del cava. L’entrada d'Espanya a la Unió Europea el 1986 va impulsar una acceleració d'aquest procés de transformació, deixant el sector format principalment per empreses que produeixen vins i caves, que han introduït els vins negres i varietals en la seva oferta de productes, que posseeixen moltes hectàrees de vinyes i en molts casos, que han mostrat una clara intenció de penetrar en el mercat internacional.

From trade to industry. The wine production sector in the Penedès Denomination of Origin, 1940-2000

[cat] Aquest treball té com a objectiu mostrar el grau en què el sector de la producció de vi a la Denominació d'Origen Penedès ha respost als reptes que s’han plantejat tant en termes de l'oferta (de consolidació i sorgiment dels països productors fora de l'esfera europea tradicional) i de la demanda (caiguda de la el consum de vi i els nous hàbits de consum) durant la segona meitat del segle XX. El document analitza l'evolució del sector a la regió des del començament de la dècada de 1940 fins a la fi del segle. Amb la fi de la Guerra Civil de 1936-1939 el sector va haver d'afrontar una caiguda de la producció, la qual va continuar concentrant-se en la comercialització de vins tradicionals. Aquesta situació va canviar quan, a finals de la dècada de 1960, la demanda es va girar cada vegada més als vins de major qualitat embotellats. Des del punt de vista legislatiu, la resposta es va centrar en la innovació tecnològica i la reestructuració de l'empresa. Aquest període va ser testimoni de la introducció de nous equips i processos, com ara l’acer inoxidable i tancs de fermentació a temperatura controlada, amb els vins embotellats expulsant el vi a granel i la transformació dels grans magatzemistes en cellers i caves. A més, una de les principals característiques del període 1970-1985 va ser la formació dels grans conglomerats empresarials dels vins i del cava. L’entrada d'Espanya a la Unió Europea el 1986 va impulsar una acceleració d'aquest procés de transformació, deixant el sector format principalment per empreses que produeixen vins i caves, que han introduït els vins negres i varietals en la seva oferta de productes, que posseeixen moltes hectàrees de vinyes i en molts casos, que han mostrat una clara intenció de penetrar en el mercat internacional.

Reliable entertainment: Spanish consumers' preferences regarding a film's country of origin

This article contributes to the study of cinema audiences in Europe by analyzing theactual behavior of Spanish moviegoers and their level of satisfaction. We modeledmoviegoers’ choice of film by country of origin (U.S.A., Spain, and other countries)according to a set of determinants: (1) consumers’ interpretation of several sources of information, (2) motivations and (3) choice rules. We found three clear consumerstereotypes related to each type of film: (1) U.S.A. films were preferred by almost everyone (especially families and younger audiences); (2) Spanish films had audiences composed of middle-age and middle-class moviegoers; and (3) European productions were preferred by a social or intellectual elite. U.S.A. films dominate the Spanish market for the reason that they provide most of what moviegoers prefer, namely, familiar, reliable entertainment in Spanish; three characteristics that are not satisfied by Spanish and European films. Additionally, we discuss the implications for the European cultural policy

Anàlisi de l'activitat enoturística dels cellers de la D.O. Empordà

Anàlisi sobre l’activitat enoturística dels cellers adscrits a la Denominació d’Origen Empordà. Es pretén saber quina és la realitat dels cellers de l’Empordà que pertanyen a aquesta denominació d’origen, en quant al seu nivell i model de desenvolupament en matèria turística

The Electoral Determinants of Collective Remittances: The Mexican 3x1 Program for Migrants

The 3x1 Program for Migrants is a matching grant scheme that seeks to direct the money sent by migrant organizations abroad to the provision of public and social infrastructure, and to productive projects in migrants’ communities of origin. To do so, the municipal, state, and federal administrations match the amount sent by hometown associations by 3 to 1. This opens the door to the political manipulation of the program. We explore the impact of a particular facet of Mexican political life on the operation of the 3x1: its recent democratization and the increasing political competition at the municipal level. Relying on the literature on redistributive politics, we posit that an increasing number of effective parties in elections may have two different effects. On the one hand, the need to cater to more heterogeneous constituencies may increase the provision of public projects. On the other hand, since smaller coalitions are needed to win elections under tighter competition, fewer public and more private (clientelistic) projects could be awarded. Using a unique dataset on the 3x1 Program for Migrants for over 2,400 municipalities in the period 2002 through 2007, we find a lower provision of public goods in electorally competitive jurisdictions. Thus, we remain sceptical about the program success in promoting public goods in politically competitive locations with high migration levels.

The Role of social institutions in inter-generational mobility

In this study we examine the role of institutions in shaping inter-generational mobility behavior. Research has traditionally emphasized the role of educational systems but cummulative evidence suggests that variations in their design offer only a very limited explanation for observed mobility differences. We examine the impact of welfare states and, in particular, how early childhood and family policies may influence the impact of economic and cultural characteristics of origin families on child outcomes.

The Point system of selection of immigrants in Quebec

The present paper is aimed at identifying what are the effects of the Point System of Selection of immigrants in Quebec. I defend that the distribution of points results in a different composition of immigrant stocks in terms of origin mix and not in terms of labour skills. To do so, I carry out a longitudinal descriptive analysis on the national composition of immigrants in Quebec and two other significant provinces (Ontario and British Columbia), as well as an analysis of the distribution of points in Quebec and in the rest of Canada.

Estudio sobre los procesos de integración laboral de los inmigrantes. Study of immigrants' labour integration process

El presente trabajo pretende mostrar los resultados de un estudio cuya intención era identificar posibles variables que afectan a los procesos y estrategias de integración laboral de personas procedentes de otros países; las necesidades formativas en relación al colectivo de referencia y ampliar el conocimiento del fenómeno en aras de la intervención psicoeducativa y social. A partir de una metodología de investigación de orientación cualitativa se ha concluido que las diferencias en cuanto a las estrategias de integración y sus logros están más determinadas por los niveles de cualificación en el país de origen que por las propias diferencias culturales. The article shows the results of a study carried out by the authors to identify possible variables that affect the processes and strategies of occupational integration of people coming from other countries, to establish training needs in relation to the reference group and to extend the knowledge of the phenomenon for the sake of the educational and social intervention. Using a qualitative research methodology, it was concluded that the differences in integration strategies and their accomplishments are better explained by the levels of qualification attained in the country of origin than by cultural differences.

Estudio sobre los procesos de integración laboral de los inmigrantes. Study of immigrants' labour integration process

El presente trabajo pretende mostrar los resultados de un estudio cuya intención era identificar posibles variables que afectan a los procesos y estrategias de integración laboral de personas procedentes de otros países; las necesidades formativas en relación al colectivo de referencia y ampliar el conocimiento del fenómeno en aras de la intervención psicoeducativa y social. A partir de una metodología de investigación de orientación cualitativa se ha concluido que las diferencias en cuanto a las estrategias de integración y sus logros están más determinadas por los niveles de cualificación en el país de origen que por las propias diferencias culturales. The article shows the results of a study carried out by the authors to identify possible variables that affect the processes and strategies of occupational integration of people coming from other countries, to establish training needs in relation to the reference group and to extend the knowledge of the phenomenon for the sake of the educational and social intervention. Using a qualitative research methodology, it was concluded that the differences in integration strategies and their accomplishments are better explained by the levels of qualification attained in the country of origin than by cultural differences.

On homology searches by protein Blast and the characterization of the age of genes

Background: It has been shown in a variety of organisms, including mammals, that genes that appeared recently in evolution, for example orphan genes, evolve faster than older genes. Low functional constraints at the time of origin of novel genes may explain these results. However, this observation has been recently attributed to an artifact caused by the inability of Blast to detect the fastest genes in different eukaryotic genomes. Distinguishing between these two possible explanations would be of great importance for any studies dealing with the taxon distribution of proteins and the origin of novel genes. Results: Here we used simulations of protein sequences to examine the capacity of Blast to detect proteins of diverse evolutionary rates in the different species of an eukaryotic phylogenetic tree that included metazoans, fungi and plants. We simulated the evolution of protein genes with the same evolutionary rates than those observed in functional mammalian genes and with among-site rate heterogeneity. Under these conditions, we found that only a very small percentage of simulated ancestral eukaryotic proteins was affected by the Blast artifact. We show that the good detectability of Blast is due to the heterogeneity of protein evolutionary rates at different sites, since only a small conserved motif in a sequence suffices to detect its homologues. Our results indicate that Blast, at least when applied within eukaryotes, only misses homologues of extremely fast-evolving sequences, which are rare in the mammalian genome, as well as sequences evolving homogeneously or pseudogenes.Conclusion: Although great care should be exercised in the recognition of remote homologues, most functional mammalian genes can be detected in eukaryotic genomes by Blast. That is, the majority of functional mammalian genes are not as fast as for not being detected in other metazoans, fungi or plants, if they had been present in these organisms. Thus, the correlation previously found between age and rate seems not to be due to a pure Blast artifact, at least for mammals. This may have important implications to understand the mechanisms by which novel genes originate.

The use of COOP/WONCA charts as a screen for mental disorders in the immigrant community in primary care in primary care

Aim. To evaluate the usefulness of COOP/WONCA charts as a screening tool for mental disorders in primary care in the immigrant healthcare users in Salt. To measure self-rated health of Salt immigration population using the COOP / WONCA charts and to assess its associated factorsDesign. Descriptive and transversal studyParticipants. 370 non-EU immigrants seniors selected by consecutive sampling stratified by sexMain measures. Personal information will be collected (age, sex, country of origin, years of residency in Spain, number of people living in the household and associated comorbidities). Each participant will complete the COOP/WONCA charts. An analysis of the validity of the diagnostic test will be done: sensibility, specificity, positive predictive value, negative predictive value, ROC curve and area under the curve (AUC). All variables will be subjected to descriptive analysis. Bivariate and multivariate analysis between the variables collected (sex, years of residency in Spain... ) and the results of COOP / WONCA charts will be performedResults. Preliminary results are available on a pilot test with 30 patients. The mental disorder prevalence is around 30%. Sensibility (0,89), specificity (0,89), VPP (0,80), VPN (0,94) cutoff score (3.5) and AUC (0,941). Women, people with 10 or more years of residency in Spain and unemployed people have worse self-rated healthConclusions. Based on the preliminary results, is possible to conclude that COOP/WONCA charts could be an useful, valid and applicable screening test for mental disorders in primary care with immigrant population

Emergency hospital services utilization in Lleida (Spain): a cross-sectional study of immigrant and Spanish-born populations

Background: The use of emergency hospital services (EHS) has increased steadily in Spain in the last decade while the number of immigrants has increased dramatically. Studies show that immigrants use EHS differently than native-born individuals, and this work investigates demographics, diagnoses and utilization rates of EHS in Lleida (Spain). Methods: Cross-sectional study of all the 96,916 EHS visits by patients 15 to 64 years old, attended during the years 2004 and 2005 in a public teaching hospital. Demographic data, diagnoses of the EHS visits, frequency of hospital admissions, mortality and diagnoses at hospital discharge were obtained. Utilization rates were estimated by group of origin. Poisson regression was used to estimate the rate ratios of being visited in the EHS with respect to the Spanish-born population. Results: Immigrants from low-income countries use EHS services more than the Spanish-born population. Differences in utilization patterns are particularly marked for Maghrebi men and women and sub-Saharan women. Immigrant males are at lower risk of being admitted to the hospital, as compared with Spanish-born males. On the other hand, immigrant women are at higher risk of being admitted. After excluding the visits with gynecologic and obstetric diagnoses, women from sub-Saharan Africa and the Maghreb are still at a higher risk of being admitted than their Spanish-born counterparts. Conclusion: In Lleida (Spain), immigrants use more EHS than the Spanish born population. Future research should indicate whether the same pattern is found in other areas of Spain and whether EHS use is attributable to health needs, barriers to access to the primary care services or similarities in the way immigrants access health care in their countries of origin.

Comparison of the consumption of antidepressants in the immigrant and native populations in a Spanish health region: an observational study

BACKGROUND: Health professionals and organizations in developed countries adapt slowly to the increase of ethnically diverse populations attending health care centres. Several studies report that attention to immigrant mental health comes up with barriers in access, diagnosis and therapeutics, threatening equity. This study analyzes differences in exposure to antidepressant drugs between the immigrant and the native population of a Spanish health region. METHODS: Cross-sectional study of the dispensation of antidepressant drugs to the population aged 15 years or older attending the public primary health centres of a health region, 232,717 autochthonous and 33,361 immigrants, during 2008. Data were obtained from computerized medical records and pharmaceutical records of medications dispensed in pharmacies. Age, sex, country of origin, visits, date of entry in the regional health system, generic drugs and active ingredients were considered. Statistical analysis expressed the percentage of persons exposed to antidepressants stratified by age, gender, and country of origin and prevalence ratios of antidepressant exposition were calculated. RESULTS: Antidepressants were dispensed to 11% of native population and 2.6% of immigrants. Depending on age, native women were prescribed antidepressants between 1.9 and 2.7 times more than immigrant women, and native men 2.5 and 3.1 times more than their immigrant counterparts. Among immigrant females, the highest rate was found in the Latin Americans (6.6%) and the lowest in the sub-Saharans (1.4%). Among males, the highest use was also found in the Latin Americans (1.6%) and the lowest in the sub-Saharans (0.7%). The percentage of immigrants prescribed antidepressants increased significantly in relation to the number of years registered with the local health system. Significant differences were found for the new antidepressants, prescribed 8% more in the native population than in immigrants, both in men and in women. CONCLUSIONS: All the immigrants, regardless of the country of origin, had lower antidepressant consumption than the native population of the same age and sex. Latin American women presented the highest levels of consumption, and the sub-Saharan men the lowest. The prescription profiles also differed, since immigrants consumed more generics and fewer recently commercialized active ingredients.