The long-standing concept that schizophrenia (SC) and bipolar disorder (BP) represent two distinct illnesses has been recently challenged by findings of overlap of genetic susceptibility loci for these two diseases. We report here the results of a linkage disequilibrium (LD) analysis of chromosome 18 utilizing subjects with SC from the Central Valley of Costa Rica. Evidence of association (P < 0.05) was obtained in three chromosomal regions: 18p11.31 (D18S63), 18q12.3 (D18S474), and 18q22.3-qter (D18S1161, D18S70), all of which overlap or are in close proximity with loci previously shown to be in LD with BP, type I in this population. Since both the SC and bipolar samples contained cases with a history of mania and almost all cases of SC and BP had a history of psychosis, we performed an alternative phenotyping strategy to determine whether presence or absence of mania, in the context of psychosis, would yield distinct linkage patterns along chromosome 18. To address this issue, a cohort of psychotic patients (including a range of DSMIV diagnoses) was divided into two groups based on the presence or absence of mania. Regions that showed association with SC showed segregation of association when the sample was stratified by history of mania. Our results are compared with previous genetic studies of susceptibility to SC or BP, in Costa Rica as well as in other populations. This study illustrates the importance of detailed phenotype analysis in the search for susceptibility genes influencing complex psychiatric disorders in isolated populations and suggests that subdivision of psychoses by presence or absence of past mania syndromes may be useful to define genetic subtypes of chronic psychotic illness.
Linkage studies using multiplex families have repeatedly implicated chromosome 8 as involved in schizophrenia etiology. The reported areas of linkage, however, span a wide chromosomal region. The present study used the founder population of the Central Valley of Costa Rica and phenotyping strategies alternative to DSM-IV classifications in attempts to further delimitate the areas on chromosome 8 that may harbor schizophrenia susceptibility genes. A linkage disequilibrium screen of chromosome 8 was performed using family trios of individuals with a history of psychosis. Four discrete regions showing evidence of association (nominal P values less than 0.05) to the phenotype of schizophrenia were identified: 8p23.1, 8p21.3, 8q13.3 and 8q24.3. The region of 8p23.1 precisely overlaps a region showing strong evidence of linkage disequilibrium for severe bipolar disorder in Costa Rica. The same chromosomal regions were identified when the broader phenotype definition of all individuals with functional psychosis was used for analyses. Stratification of the psychotic sample by history of mania suggests that the 8q13.3 locus may be preferentially associated with non-manic psychosis. These results may be helpful in targeting specific areas to be analyzed in association-based or linkage disequilibrium-based studies, for researchers who have found evidence of linkage to schizophrenia on chromosome 8 within their previous studies.
These results suggest that the neuregulin 1 gene is unlikely to play a major role in predisposing to schizophrenia in the CVCR. Further studies in the CVCR and other Latin American populations should be performed in order to corroborate these findings.
ResumoO presente estudo exploratório examinou o desenvolvimento mental e a qualidade do funcionamento sócio-emocional de 16 crianças entre os 3 e os 6 anos, institucionalizadas em Centros de Acolhimento Temporário, relacionando-os com a qualidade das narrativas sobre o apego das suas cuidadoras. Foram utilizadas a Escala de Desenvolvimento Mental de Griffiths, o Questionário de Comportamentos, as Narrativas sobre o Apego e o Attachment Q-Sort. Os resultados revelaram que o nível de desenvolvimento das crianças foi inferior aos valores normativos. Além disso, os valores apresentados ao nível da psicopatologia, em termos de sintomas de internalização e de externalização, aproximaram-se dos valores clínicos. Não obstante e, em contraste com o esperado, a maioria das crianças apresentou valores próximos da segurança (base segura), os quais não estão associados com a qualidade das narrativas sobre o apego das suas cuidadoras. Os resultados são discutidos com base no impacto da privação em meio institucional para o desenvolvimento na infância. Palavras-chave: Infância; Institucionalização; Apego; Desenvolvimento; Psicopatologia. AbstractThis exploratory study examined mental development and the quality of socio-emotional functioning of 16 institutionalized children, aged from 3 to 6 years old, relating them with the quality of their caregivers' attachment narratives. Griffiths Developmental Scales, Child Behavior Checklist, Attachment Script Representation and Attachment Q-Sort were used in the psychological assessment. Results showed that chidren's developmental level was placed below normative data. Furthermore, data regarding externalizing and internalizing psychopathology symptoms were close to the clinical population. Nevertheless, and in contrast to our hypothesis, most children presented almost mormative attachments scores (secure base), but this was not related to the quality of attachement narratives presented by their caregivers. The implications of these findings are discussed in light of the impact of institutional deprivation in child development.
ABSTRACT. Dyslexia or reading disability (RD) is the most common childhood learning disorder and a significantly heritable trait. Many recent studies have investigated the genetic basis of dyslexia, and several candidate genes have been proposed. Among these, DCDC2 and KIAA0319 have emerged as the strongest candidate genes for dyslexia; however studies have not provided uniformly supportive results. The aim of this study was to assess the contribution of proposed candidate genes to the molecular etiology of dyslexia in a Brazilian sample. Large deletions and duplications in the candidate genes DCDC2, KIAA0319, and ROBO1 were investigated in 51 dyslexic subjects. Furthermore, a family-based association study was performed to investigate whether associations observed in other populations with variants in the Dyslexia candidate genes DCDC2 and KIAA0319 genes were reproducible in Brazilian dyslexic individuals. Our analysis did not detect any deletions or duplications in the genes studied, and we found no evidence that the allelic variants in the two candidate genes were significantly associated with RD in our sample. Our data do not support a role of the DCDC2/KIAA0319 locus in influencing dyslexia as a categorical trait. Given the genetic complexity of dyslexia, it is plausible that both genes contribute to an increased risk, but the relative influence of these 2 genes on RD varies in different study samples, and/or depends on analytical approaches.
Synthetic plastics have become an indispensable component of modern life, and the amount of plastics disposal has increased dramatically as a result. With human population increasing, it is expected that the prevalence of plastic debris in the environment will also increase, unless sustainable daily habits are incorporated, waste management improved, and new alternative materials are discovered and popularized. To date, several reports show negative effects of plastic debris on marine and freshwater fauna (e.g. invertebrates, birds, turtles, marine mammals). Plastic are ubiquitous in the water column, deposited Lozoya et al. (2015) 378 in fine sediments and enter the guts, respiratory structures and tissues of different aquatic species, and are incorporated into food webs via ingestion. This global problem also affects beach and near-shore activities (e.g. tourism, fisheries, and aquaculture) with negative social and economic consequences. The research of plastics effect on aquatic environments in Uruguay is only incipient. With the aim of contributing to scientific knowledge, decision-making and the management of plastic debris, here we reviewed the available information on plastic debris sources, their impacts on biodiversity, and policy issues in Uruguayan aquatic systems. Moreover, we reviewed and systematized community outreach initiatives, and examined national policies and management initiatives. We found that Uruguayan aquatic systems (freshwater, coastal marine and benthic) are affected by plastic pollution, both from land-based and sea-based activities, although national-level policies are modern and well suited for minimizing the impacts of plastic pollution. We reviewed biota-plastic debris interactions, and found evidence for impacts on a number of aquatic taxa, including the poorly reported ingestion of microplastics in freshwaters fishes and the association with plastic benthic debris. Global and regional hydrographic settings (Río de la Plata Estuary), as well as idiosyncratic ecological, socio-economic and cultural issues, make Uruguay a valuable test-site for this topic. Our ultimate goal is to minimize the effects of this widespread environmental, economic, health and aesthetic problem. Resumo Pesquisas e manejo de descartes plásticos em sistemas aquáticos uruguaios: atualização e perspectivasProdutos plásticos tem se tornado um componente indispensável na vida moderna, como conseqüência disso a quantidade de plásticos descartados tem dramaticamente aumentado. É esperado que com o aumento da população de seres humanos a prevalência de descartes plásticos também aumente, a menos que hábitos cotidianos sustentáveis sejam incorporados, e novos materiais alternativos sejam descobertos e popularizados. Até o momento, diversas pesquisas têm mostrado os efeitos negativos de descartes plásticos sobre a fauna marinha e dulcícola (p. ex.: invertebrados, aves, tartarugas e mamíferos marinhos). Em ambientes aquáticos, plásticos estão em toda parte: na coluna de água, depositados em sedimento fino e dent...
O Governo Brasileiro vem criando programas que incentivam a continuidade da capacitação profssional. O programa Rede e-Tec, possui a missão de dispor cursos técnicos na modalidade de educação a distância para as localidades isoladas dos grandes centros. Este trabalho foi construído com a fnalidade de compreender o perfl dos estudantes ingressos nestes cursos, analisando a visão do aluno quanto a estrutura didática disponível e as expectativas quanto ao fnal do curso. Com base nos resultados da pesquisa, acredita-se que o programa está alcançando bons resultados, mas há soluções pedagógicas que podem ser elaboradas e adotadas para mitigar os défcits na qualidade da formação recebida por futuros estudantes do projeto.
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