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Brain

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Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs.

Brain --- Abnormalities.

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Brain --- Tumors

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Lynch syndrome (LS) (MIM No. 120435-6), previously known as hereditary nonpolyposis colorectal cancer (HNPCC) (Boland, 2005), is an autosomal dominant disorder caused by germline mutation in one of the DNA mismatch repair (MMR) genes. LS is among the most prevalent cancer syndromes in man and is estimated to account for 1-6% of all colorectal cancers (Lynch & de la Chapelle, 2003).

Brain --- Tumors.

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Thanatological research in the social sciences and the humanities acknowledges that death is culturally and socially embedded. The idea of the social construction of death has been taken on board, albeit slowly, by the social and cultural study of death, but explicit reflections on the underlying ontologies and epistemologies of this paradigm remain scarce. This edited volume aims to strengthen the paradigmatic reflections about the social construction of death in thanatology and contribute to a theoretical reinforcement of the field. It also puts death and dying more explicitly on the agenda of social constructionist and social constructivist research in general, arguing that the study of death is important for these approaches. The thirteen contributions gathered in this volume, written by well-established scholars from a variety of disciplines (including sociology, anthropology, media and cultural studies, and political sciences), theorise the social construction of death and dying, and deploy it to analyse a wide variety of meaning-making practices in societal fields such as ethics, politics, media, medicine and family.

Brain death.