13,529 research outputs found
A developmental and genetic classification for malformations of cortical development: update 2012.
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent evolution of molecular biology, genetics and imaging has resulted in an explosive increase in our knowledge of cerebral cortex development and in the number and types of malformations of cortical development that have been reported. These advances continue to modify our perception of these malformations. This review addresses recent changes in our perception of these disorders and proposes a modified classification based upon updates in our knowledge of cerebral cortical development
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From the Poetry of Late Socialism to the Dogmatism of Democracy: The Cinema of the Former Eastern Bloc before and after the Collapse of Communism
Using the examples of two films from the late socialist era, Roman Balayanâs Flights in Dream and Reality (1982) and Mircea Daneliucâs Glissando (1982) and following Alexei Yurchakâs description of vnye as âdeterritorialized milieus,â I plan to show how the entirety of the cultural space of late socialism amounted to what Foucault would term a heterotopic place featuring both simultaneity and juxtaposition. Finally, by further comparing this space to that created in the nonlinear postmodern era by Sergey Loznitsa in his documentary film Donbass, I will attempt to show that this cultural space, and by extension, the affective space of socialism right down to the everyday lives of the âmasses,â unlike the totalitarian universe it is nowadays made out to appear, presented the early features of the very intermediality, non-linearity, and non-topicality we are celebrating in post-meta-narrative art cinema of the early 2000s. A home-bred version of magic realism, this Eastern European postmodern space should serve, due to its cohesive yet disparate nature, as a model of sorts for reconceptualizing contemporary views of post-narrative, transnational and, to employ Foucaultâs powerful term, heterotopic media
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association. To improve variant prioritisation, we leverage population exome data to identify intragenic missense-depleted regions (MDRs) genome-wide that may be important in disease. We then use missense depletion analyses to help prioritise undiagnosed disease exome variants. We demonstrate application of this strategy to identify a novel gene association for human brain malformation. We identified de novo missense variants that affect the GDP/GTP-binding site of ARF1 in three unrelated patients. Corresponding functional analysis suggests ARF1 GDP/GTP-activation is affected by the specific missense mutations associated with heterotopia. These findings expand the genetic pathway underpinning neurologic disease that classically includes FLNA. ARF1 along with ARFGEF2 add further evidence implicating ARF/GEFs in the brain. Using functional ontology, top MDR-containing genes were highly enriched for nucleotide-binding function, suggesting these may be candidates for human disease. Routine consideration of MDR in the interpretation of exome data for rare diseases may help identify strong genetic factors for many severe conditions, infertility/reduction in reproductive capability, and embryonic conditions contributing to preterm loss
Time, Politics and Homelessness in Contemporary Japan
Peer reviewedPublisher PD
Journeys to Others and Lessons of Self: Carlos Castaneda in \u3cem\u3eCamposcape\u3c/em\u3e
Drawing on Michel Foucaultâs concept of heterotopia, this article examines the importance of place and gender within constructions of race politics in Carlos Castanedaâs series on shamanism. Championing a âseparate realityâ predicated on an indigenous worldview, Castanedaâs lessons invited transnational middle-class youth to journey alongside him to camposcapeâan anachronistic and idealized countrysideâas a means to escape the bourgeois values of their homelands and find spiritual fulfillment in a timeless and authentic Mexico. Castanedaâs work proposed new viable spaces of difference in Mexico, yet inscribed these spaces with a masculinist discourse that served to neutralize the gender trouble within the counterculture movement in both Mexico and the US
Pintu Terlarang a Disconcerting Spatial Interpretation of Urban Dystopia
The main character of the film Pintu terlarang (The forbidden door), Gambir, attains success in the art world by making statues of pregnant women. Part of his creative process is to insert dead foetuses into the wombs of the statues. His troubled soul meets a written request for help by a child he encounters in various places. The journey to find the child leads him to a secret door, revealing a terrifying reality of a dehumanized world. The city, commonly characterized by a sense of vastness, is set in opposition to small, enclosed spaces where individuals converse with their utmost self. The questions explored are: What is the role of space in engendering urban dystopia? In what ways does the selection of different space settings help create a dehumanized world? I argue that urban dystopia is created when the inhabitants of a city return to enclosed spaces in an effort to find an existence. When individuals prefer enclosed spaces and fail to reconstruct existing meanings, tendencies toward dystopia will come forward and city life will degenerate
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