As famílias de afeto nas casas de acolhimento de crianças /jovens em perigo

O acolhimento residencial para crianças/jovens em situação de perigo, é uma resposta social prevista na lei para acolher crianças e jovens provenientes de famílias disfuncionais. Estas casas de acolhimento devem, por isso, proporcionar condições de bem-estar que permitam o desenvolvimento integral dos acolhidos. De modo a aproximar estas casas de acolhimento à comunidade, têm surgido em Portugal alguns projetos com famílias de afeto, que assentam no ato voluntário de famílias em acolherem crianças/jovens residencializadas durante os fins de semana e férias letivas. Vários autores defendem que estas famílias representam um recurso de elevada importância, uma vez que permite às crianças/jovens beneficiar de um ambiente familiar estruturado e estável fora do contexto residencial. Assim, por se tratar de uma resposta alternativa e cada vez mais aplicada pelas casas de acolhimento em Portugal, este estudo pretende compreender os modos de intervenção nestas casas com as famílias de afeto. Este é um estudo qualitativo, realizado em 4 casas de acolhimento: 1 Centro de Acolhimento Temporário e 3 Lares de Infância e Juventude. Em cada casa foi selecionado um técnico para a realização de entrevistas e aplicado um questionário sociodemográfico com o objetivo de contextualizar a realidade das casas. Os resultados sugerem que o recrutamento e seleção estão cada vez mais aprimorados pelas casas de acolhimento, apresentando mecanismos de divulgação eficazes e discretos, procedimentos de seleção capazes de traçar um perfil familiar e assegurarem a idoneidade dos candidatos, e formas de preparação/sensibilização cuidadas e esclarecidas. O cruzamento e atribuição são quase sempre realizados no sentido de mediar as características e os interesses de ambas as partes. Apesar de só uma casa ter regulamento interno específico para esta resposta, todas demonstram preocupação em regulamentar estes modos de atuação. A metodologia de acompanhamento e avaliação é bastante diversificada e informal. iv Todas as casas reconhecem a importância destas famílias na definição dos projetos de vida das crianças/jovens acompanhadas. Em toda a intervenção são utilizados vários instrumentos e materiais de apoio pelas equipas técnicas, permitindo melhorar a qualidade deste recurso. As conclusões revelam que os modos de intervenção relativamente às famílias de afeto dividem-se em dois grandes eixos: um atribui grande relevância à ligação afetiva e à criação de vínculos entre as crianças/jovens e as famílias de afeto, preparando-as para uma relação de continuidade. O outro eixo intervém no sentido inverso, evitando que as partes envolvidas desenvolvam uma relação próxima, não pretendendo a criação de laços afetivos, pois o projeto de vida destas crianças/jovens não passa por ficarem integradas nestas famílias.

Era uma vez...As sete casas da infortuna: relação actor - marioneta : Relatório de estágio

O presente relatório tem como objectivo analisar a realidade de uma Companhia de Marionetas em Portugal, Teatro e Marionetas de Mandrágora, incidindo sobre a relação entre o actor, marioneta e meio envolvente (site specific) no contexto de uma prática teatral concreta, a produção do espectáculo Era uma vez ...As Sete Casas da Infortuna, no Castelo de Santa Maria da Feira. Os resultados apurados acompanham os moldes em que se procurou passar de um actor convencional para a especialização de um micromundo teatral onde a aprendizagem foi, fulcral desde o processo de construção até, à manipulação em cena num universo de trabalho particularmente árduo e específico. A minha trajectória no seio da companhia começou pela familiarização e aprendizagem informal da prática das marionetas através da observação directa dos espectáculos e de diferentes projectos da companhia. A formação feita no local de estágio (atelier da Companhia) foi outra das modalidades de formação que acompanhou o meu trajecto ao longo do estágio através da minha colaboração em projectos como Teatro nas Instituições, sempre sob a égide da divisão de tarefas e de alguma autoaprendizagem com a devida supervisão e orientação de artistas especialistas, como o Director Criativo, enVide neFelibata. O laboratório de aprendizagem prosseguiu pela mão da marionetista Clara Ribeiro que orientou a minha formação no sentido de absorver princípios teórico-práticos como o Foco, o Movimento e o Olhar para uma melhor consciencialização do universo do teatro de marionetas e formas animadas. Ainda nessa aprendizagem, a figura de alguns artistas especialistas foi fulcral, nomeadamente a da cenógrafa Marta Fernandes da Silva, que revelou ser de extrema importância ao longo do estágio pois permitiu uma verdadeira intersecção entre as componentes teórica e prática. Dessa forma pude acompanhar todo o processo de criação do Era uma vez ...As Sete Casas da Infortuna, e colaborar na construção das marionetas que iria manipular como actor - marionetista. Relativamente à questão da componente da interpretação no estágio, esta foi assumida pela encenadora - marionetista, Filipa Alexandre que, com a sua orientação, permitiu um enfoque do grupo de trabalho num processo de criação colectiva. Assim, a nível pessoal, fui movido por uma necessidade premente de descodificar o papel do actor na sua relação com a marioneta e o meio envolvente (site specific). ABSTRACT: This study aims to examine the reality of a Puppet Company in Portugal, the Puppet Theater of Mandrágora, focusing on the relationship between actor, puppet and environment (site specific) in the context of an actual theatrical practice, Once upon a time ...Seven houses of infortune, in the Castle of Santa Maria da Feira. The results obtained follow the way in which one seeks to move from one "conventional" actor to the specialization of a micro theater where learning was central from the building process to manipulation on the scene in a universe of work particularly hard and specific. My initial course within the company began with the familiarization and informal learning of the practice of puppetry through direct observation of performances and various projects of the company. The training done at the company (workshop of the Company) was one of the training arrangements that accompanied my way along the training through assistance on projects such as Teatro nas Instituições, always under the auspices of the division of tasks and due self-teaching with appropriate supervision and guidance of expert artists, such as the Creative Director, enVide neFelibata. The learning laboratory continued by the hand of the puppeteer Clara Ribeiro who supervised my training in order to absorb theoretical and practical principles as the Focus, the Movement and the Look for better awareness of the world of puppetry and animated forms. Also at this level, the figure of some specialist artists were central, such as the scenographer Marta Fernandes da Silva, who proved to be extremely important during this training, allowing a true intersection between the theoretical and the practical components. I could experience the surroundings of the creation notebook of Era uma vez ...As Sete Casas da Infortuna, and collaborate in the preparation of puppets that would handle as an actor - puppeteer. As to the question of the interpretation component on training, this was in charge of stage director - puppeteer, and the Artistic Director, Filipa Alexandre, whose instructions allowed a focus of the working group in a process of collective creation. Accordingly, to a personal level, I was urged to decode the role of the actor in relation to the puppet and the environment (site specific).

Comentario del libro Bartolomé de las Casas ante la conquista de América, de Juan Durán Luzio

IntroducciónDecir que un texto es el resultado de múltiples diálogos con otros textos, suena por de más evidente. El libro de Juan Durán establece relaciones dialógicas entre numerosas obras: Las Casas, Tomás Moro, Jeremías, Nontaigne, Ernesto Cardenal, y una gran cantidad de textos y autores citados en las notas. A su vez, quien suscribe, aspira a entablar un diálogo con este libro polifónico, para subrayar una de las dimensiones de los textos lascasianos señala reiteradas veces, aunq de paso, por el libro de Juan Durán: su condición de texto que busca persuadir, convencer, para hacer...

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

Genetic factors have been implicated in stroke risk, but few replicated associations have been reported. We conducted a genome-wide association study (GWAS) for ischemic stroke and its subtypes in 3,548 affected individuals and 5,972 controls, all of European ancestry. Replication of potential signals was performed in 5,859 affected individuals and 6,281 controls. We replicated previous associations for cardioembolic stroke near PITX2 and ZFHX3 and for large vessel stroke at a 9p21 locus. We identified a new association for large vessel stroke within HDAC9 (encoding histone deacetylase 9) on chromosome 7p21.1 (including further replication in an additional 735 affected individuals and 28,583 controls) (rs11984041; combined P = 1.87 × 10 -11; odds ratio (OR) = 1.42, 95% confidence interval (CI) = 1.28-1.57). All four loci exhibited evidence for heterogeneity of effect across the stroke subtypes, with some and possibly all affecting risk for only one subtype. This suggests distinct genetic architectures for different stroke subtypes.

A "Candidate-Interactome" Aggregate Analysis of Genome-Wide Association Data in Multiple Sclerosis

Though difficult, the study of gene-environment interactions in multifactorial diseases is crucial for interpreting the relevance of non-heritable factors and prevents from overlooking genetic associations with small but measurable effects. We propose a "candidate interactome" (i.e. a group of genes whose products are known to physically interact with environmental factors that may be relevant for disease pathogenesis) analysis of genome-wide association data in multiple sclerosis. We looked for statistical enrichment of associations among interactomes that, at the current state of knowledge, may be representative of gene-environment interactions of potential, uncertain or unlikely relevance for multiple sclerosis pathogenesis: Epstein-Barr virus, human immunodeficiency virus, hepatitis B virus, hepatitis C virus, cytomegalovirus, HHV8-Kaposi sarcoma, H1N1-influenza, JC virus, human innate immunity interactome for type I interferon, autoimmune regulator, vitamin D receptor, aryl hydrocarbon receptor and a panel of proteins targeted by 70 innate immune-modulating viral open reading frames from 30 viral species. Interactomes were either obtained from the literature or were manually curated. The P values of all single nucleotide polymorphism mapping to a given interactome were obtained from the last genome-wide association study of the International Multiple Sclerosis Genetics Consortium & the Wellcome Trust Case Control Consortium, 2. The interaction between genotype and Epstein Barr virus emerges as relevant for multiple sclerosis etiology. However, in line with recent data on the coexistence of common and unique strategies used by viruses to perturb the human molecular system, also other viruses have a similar potential, though probably less relevant in epidemiological terms. © 2013 Mechelli et al.

The correlation between reading and mathematics ability at age twelve has a substantial genetic component

Dissecting how genetic and environmental influences impact on learning is helpful for maximizing numeracy and literacy. Here we show, using twin and genome-wide analysis, that there is a substantial genetic component to children’s ability in reading and mathematics, and estimate that around one half of the observed correlation in these traits is due to shared genetic effects (so-called Generalist Genes). Thus, our results highlight the potential role of the learning environment in contributing to differences in a child’s cognitive abilities at age twelve.

Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

To discover quantitative trait loci for intraocular pressure, amajor risk factor for glaucoma and the only modifiable one,weperformed agenome-wide association studyonadiscoverycohort of2175individualsfromSydney, Australia. We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1. The findings in this region were confirmed through two UK replication cohorts totalling 4866 individuals (rs59072263, Pcombined = 1.10 × 10-8). A copy of the G allele at this SNP is associated with an increase in mean IOP of 0.45 mmHg (95%CI = 0.30-0.61 mmHg). These results lend support to the implication of vesicle trafficking and glucocorticoid inducibility pathways in the determination of intraocular pressure and in the pathogenesis of primary open-angle glaucoma.

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial public health impact. We conducted a multi-stage genome-wide association study (GWAS) for schizophrenia beginning with a Swedish national sample (5,001 cases and 6,243 controls) followed by meta-Analysis with previous schizophrenia GWAS (8,832 cases and 12,067 controls) and finally by replication of SNPs in 168 genomic regions in independent samples (7,413 cases, 19,762 controls and 581 parent-offspring trios). We identified 22 loci associated at genome-wide significance; 13 of these are new, and 1 was previously implicated in bipolar disorder. Examination of candidate genes at these loci suggests the involvement of neuronal calcium signaling. We estimate that 8,300 independent, mostly common SNPs (95% credible interval of 6,300-10,200 SNPs) contribute to risk for schizophrenia and that these collectively account for at least 32% of the variance in liability. Common genetic variation has an important role in the etiology of schizophrenia, and larger studies will allow more detailed understanding of this disorder.

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

To identify susceptibility loci for visceral leishmaniasis, we undertook genome-wide association studies in two populations: 989 cases and 1,089 controls from India and 357 cases in 308 Brazilian families (1,970 individuals). The HLA-DRB1-HLA-DQA1 locus was the only region to show strong evidence of association in both populations. Replication at this region was undertaken in a second Indian population comprising 941 cases and 990 controls, and combined analysis across the three cohorts for rs9271858 at this locus showed P combined = 2.76 × 10 -17 and odds ratio (OR) = 1.41, 95% confidence interval (CI) = 1.30-1.52. A conditional analysis provided evidence for multiple associations within the HLA-DRB1-HLA-DQA1 region, and a model in which risk differed between three groups of haplotypes better explained the signal and was significant in the Indian discovery and replication cohorts. In conclusion, the HLA-DRB1-HLA-DQA1 HLA class II region contributes to visceral leishmaniasis susceptibility in India and Brazil, suggesting shared genetic risk factors for visceral leishmaniasis that cross the epidemiological divides of geography and parasite species. © 2013 Nature America, Inc. All rights reserved.

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2 independent data sets genotyped on the Immunochip, including 10,588 cases and 22,806 controls. We identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals. We also identified, using conditional analyses, five independent signals within previously known loci. The newly identified loci shared with other autoimmune diseases include candidate genes with roles in regulating T-cell function (such as RUNX3, TAGAP and STAT3). Notably, they included candidate genes whose products are involved in innate host defense, including interferon-mediated antiviral responses (DDX58), macrophage activation (ZC3H12C) and nuclear factor (NF)-κB signaling (CARD14 and CARM1). These results portend a better understanding of shared and distinctive genetic determinants of immune-mediated inflammatory disorders and emphasize the importance of the skin in innate and acquired host defense. © 2012 Nature America, Inc. All rights reserved.

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's Esophagus

Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to esophageal adenocarcinoma (EAC), a tumor with a very poor prognosis. We report the first genome-wide association study on Barrett's esophagus, comprising 1,852 UK cases and 5,172 UK controls in the discovery stage and 5,986 cases and 12,825 controls in the replication stage. Variants at two loci were associated with disease risk: chromosome 6p21, rs9257809 (P combined = 4.09 × 10-9; odds ratio (OR) = 1.21, 95% confidence interval (CI) =1.13-1.28), within the major histocompatibility complex locus, and chromosome 16q24, rs9936833 (P combined = 2.74 × 10-10; OR = 1.14, 95% CI = 1.10-1.19), for which the closest protein-coding gene is FOXF1, which is implicated in esophageal development and structure. We found evidence that many common variants of small effect contribute to genetic susceptibility to Barrett's esophagus and that SNP alleles predisposing to obesity also increase risk for Barrett's esophagus. © 2012 Nature America, Inc. All rights reserved.

Using genome-Wwide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

Genome-wide association studies (GWASs) have been successful at identifying single-nucleotide polymorphisms (SNPs) highly associated with common traits; however, a great deal of the heritable variation associated with common traits remains unaccounted for within the genome. Genome-wide complex trait analysis (GCTA) is a statistical method that applies a linear mixed model to estimate phenotypic variance of complex traits explained by genome-wide SNPs, including those not associated with the trait in a GWAS. We applied GCTA to 8 cohorts containing 7096 case and 19 455 control individuals of European ancestry in order to examine the missing heritability present in Parkinson's disease (PD). We meta-analyzed our initial results to produce robust heritability estimates for PD types across cohorts. Our results identify 27% (95% CI 17-38, P = 8.08E - 08) phenotypic variance associated with all types of PD, 15% (95% CI -0.2 to 33, P = 0.09) phenotypic variance associated with early-onset PD and 31% (95% CI 17-44, P = 1.34E - 05) phenotypic variance associated with late-onset PD. This is a substantial increase from the genetic variance identified by top GWAS hits alone (between 3 and 5%) and indicates there are substantially more risk loci to be identified. Our results suggest that although GWASs are a useful tool in identifying the most common variants associated with complex disease, a great deal of common variants of small effect remain to be discovered. © Published by Oxford University Press 2012.

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

Metformin is the most commonly used pharmacological therapy for type 2 diabetes. We report a genome-wide association study for glycemic response to metformin in 1,024 Scottish individuals with type 2 diabetes with replication in two cohorts including 1,783 Scottish individuals and 1,113 individuals from the UK Prospective Diabetes Study. In a combined meta-analysis, we identified a SNP, rs11212617, associated with treatment success (n = 3,920, P = 2.9 P×-9, odds ratio = 1.35, 95% CI 1.22-1.49) at a locus containing ATM, the ataxia telangiectasia mutated gene. In a rat hepatoma cell line, inhibition of ATM with KU-55933 attenuated the phosphorylation and activation of AMP-activated protein kinase in response to metformin. We conclude that ATM, a gene known to be involved in DNA repair and cell cycle control, plays a role in the effect of metformin upstream of AMP-activated protein kinase, and variation in this gene alters glycemic response to metformin. © 2011 Nature America, Inc. All rights reserved.

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21

We performed a genome-wide association study (GWAS) in 1705 Parkinson's disease (PD) UK patients and 5175 UK controls, the largest sample size so far for a PD GWAS. Replication was attempted in an additional cohort of 1039 French PD cases and 1984 controls for the 27 regions showing the strongest evidence of association (P < 10 4). We replicated published associations in the 4q22/SNCA and 17q21/MAPT chromosome regions (P < 10 10) and found evidence for an additional independent association in 4q22/SNCA.A detailed analysis of the haplotype structure at 17q21 showed that there are three separate risk groups within this region. We found weak but consistent evidence of association for common variants located in three previously published associated regions (4p15/BST1, 4p16/GAK and 1q32/PARK16). We found no support for the previously reported SNP association in 12q12/LRRK2. We also found an association of the two SNPs in 4q22/SNCA with the age of onset of the disease. © The Author 2010. Published by Oxford University Press.