3 resultados para Transgenerational inheritance
em ReCiL - Repositório Científico Lusófona - Grupo Lusófona, Portugal
Resumo:
The dynamics of silence and remembrance in Australian writer Lily Brett’s autobiographic fiction Things Could Be Worse reflects the crisis of memory and understanding experienced by both first and second-generation Holocaust survivors within the diasporic space of contemporary Australia. It leads to issues of handling traumatic and transgenerational memory, the latter also known as postmemory (M. Hirsch), in the long aftermath of atrocities, and problematises the role of forgetting in shielding displaced identities against total dissolution of the self. This paper explores the mechanisms of remembrance and forgetting in L. Brett’s narrative by mainly focusing on two female characters, mother and daughter, whose coming to terms with (the necessary) silence, on the one hand, and articulated memories, on the other, reflects different modes of comprehending and eventually coping with individual trauma. By differentiating between several types of silence encountered in Brett’s prose (that of the voiceless victims, of survivors and their offspring, respectively), I argue that silence can equally voice and hush traumatic experience, that it is never empty, but invested with individual and collective meaning. Essentially, I contend that beside the (self-)damaging effects of silence, there are also beneficial consequences of it, in that it plays a crucial role in emplacing the displaced, rebuilding their shattered self, and contributing to their reintegration, survival and even partial healing.
Resumo:
A miocardiopatia hipertrófica (MH) é a doença cardíaca genética mais comum, afectando 1:500 indivíduos, apresentando um padrão de transmissão autossómico dominante, com mutações associadas a genes sarcoméricos e não sarcoméricos. A MH apresenta uma variedade de manifestações clínicas, desde indivíduosassintomáticos a indivíduos que manifestam uma progressão da severidade dos sintomas, podendo nalguns casos ocorrer morte súbita. O diagnóstico clínico é realizado por Electrocardiograma e Ecocardiograma. O diagnóstico genético baseia-se na Sequenciação Automática (SA) dos 5 principais genes sarcoméricos MYBPC3, MYH7, TNNT2, TNNI3 e MYL2, sendo considerada uma metodologia bastante dispendiosa e demorada e que não permite a identificação de mutações em cerca de 1/3 dos individuos. A Genotipagem por iPLEX MassARRAY revela-se uma boa alternativa à SA no diagnóstico genético de MH, uma vez que permite a análise de várias amostras em simultâneo, para um elevado número de mutações, num único ensaio, com uma maior rentabilidade de tempo e recursos. Este trabalho teve como objectivo a optimização e a validação desta metodologia, na detecção de 541 mutações em 33 genes, tendo-se verificado que 29 % das reacções multiplex necessitam de ser revistas, quer pelo desenho de novos conjuntos de primers, quer pela sua relocalização no chip.
Resumo:
The male and female homosexual orientation has substantial prevalence in humans and can be explained by determinants of various levels: biological, genetic, psychological, social and cultural. However, the biological and genetic evidence have been the main hypotheses tested in scientific research in the world. This article aims to review research studies about the existence of genetic and biological evidence that determine homosexual orientation. Was conducted a review of the literature, using the database MedLine/PubMed and Google scholar. The papers and books were searched in Portuguese and English, using the following keywords: sexual orientation, sexual behavior, homosexuality, developmental Biology and genetics. Was selected papers of the last 22 years. Were found five main theories about the biological components: (1) fraternal birth order, (2) brain androgenization and 2D:4D ratio; (3) brain activation by pheromones; and (4) epigenetic inheritance; and four theories about the genetic components: (1) genetic polymorphism; (2) pattern of X-linked inheritance; (3) monozygotic twins; and (4) sexual antagonistic selection. Concluded that there were many scientific evidence found over time to explain some of biological and genetic components of homosexuality, especially in males. However, today, there is no definitive explanation about what are the determinants of homosexual orientation components.