Clinical features and gene mutation analysis of a male case of subcortical band heterotopia caused by mosaic mutation of DCX gene / 中华神经科杂志

Objective:To investigate the clinical phenotype and genotype of a male case of subcortical band heterotopia caused by mosaic mutation of DCX gene.Methods:The clinical data and magnetic resonance imaging (MRI) features of a male case of subcortical band heterotopia diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University in August 2020 were analyzed retrospectively. At the same time, the whole exon sequencing of the families was performed by next generation sequencing method, the suspicious mutation was verified by polymerase chain reaction Sanger sequencing, and their genetic mutation characteristics were analyzed.Results:The proband, one male, aged 5 years and 1 month, was hospitalized in August 2020 with the complaint of intermittent convulsions for 4 years and six months. Clinical features included that limb muscle tension was slightly high, intellectual and motor development was backward, and head circumference was 48 cm. MRI of his head showed diffuse thick subcortical band heterotopia. The detection of whole exon sequencing in his family showed that there was hemizygous mosaic mutation in DCX gene (mosaic ratio 44%), c.148A>G (p.k50E). The mosaic ratios of oral mucosa and urinalysis were 38.2% and 44.8% respectively. His parents were wild-type, The mutation found in this patient has not been reported at home and abroad.Conclusions:The mosaic variation of DCX gene can cause subcortical band heterotopia in males. The variation of DCX gene c.148A>G (p.k50E) may be the possible cause of the proband, which expands the variation spectrum of subcortical band heterotopia.

Merosin-Deficient Congenital Muscular Dystrophy with Polymicrogyria and Subcortical Heterotopia: A Case Report

This paper reports the brain magnetic resonance imaging (MRI) findings of a case of merosin-deficient congenital muscular dystrophy (MDCMD) in a neonate and discusses the spectrum of brain involvement in MDCMD. A neonate presented hypotonia, increased serum creatine kinase levels, and polymicrogyria and subcortical heterotopia on brain MRI involving both posterior temporal and occipital lobes. Although these findings suggested Fukuyama muscular dystrophy, muscle biopsy showed dystrophic changes and an absence of merosin staining. We found that compound heterozygous mutation for c.2049_2050delAG (p.R683fs) and c.5866-2A>G in the LAMA2 gene which encodes Laminin-α2. To our knowledge, this is the second Korean case of MDCMD with polymicrogyria and subcortical heterotopias. This case shows that a range of brain structural malformations can be found in children with MDCMD and that the classification of congenital muscular dystrophy (CMD) is not complete yet, as indicated previously in reports suggesting other unclassified forms of CMD.

A cartografia como método para as ciências humanas e sociais / The cartography as a method for the humanities and social sciences

Este artigo busca recolher num diálogo entre Foucault e Deleuze elementos metodológicos que possibilitem realizar uma cartografia social. Não se trata aqui de "sistematizar o método cartográfico", mas de reunir apontamentos e indicações nesse diálogo, que sirvam de suporte para análises críticas, estudos e pesquisas, ao mesmo tempo em que sirvam como instrumentos de resistência. Diferentemente da cartografia tradicional, que traça mapas de territórios, relevo e distribuição populacional, uma cartografia social faz diagramas de relações, enfrentamentos e cruzamentos entre forças, agenciamentos, jogos de verdade, enunciações, jogos de objetivação e subjetivação, produções e estetizações de si mesmo, práticas de resistência e liberdade. Como método presta-se à análise e desmontagem de dispositivos, ação que consiste em desemaranhar suas enredadas linhas, além de instrumentalizar a resistência aos seus modos de objetivação e subjetivação. Tal como proposta por Foucault e Deleuze, a análise cartográfica configura-se como instrumento para uma história do presente, possibilitando a crítica do nosso tempo e daquilo que somos.(AU)

This article seeks to collect a dialogue between Foucault and Deleuze methods that will allow to perform a social cartography. This is not to "the systematic mapping method", but to gather notes and information in this dialogue, which serve as support for critical analysis, studies and research while serving as instruments of resistance. Unlike traditional cartography, which traces territories maps, topography and population distribution, social cartography is a relationship diagrams, and crosses between fighting forces, funding, games of truth, utterances games, objectivity and subjectivity, self-productions and self-estetizations, practices of resistance and freedom. As a method lends itself to analysis and removal of devices, an action that is to unravel their tangled lines, and resistance to equip their modes of objectification and subjectification.As proposed by Foucault and Deleuze cartographic analysis appears as an instrument of this story, allowing criticism of our time and what we are.(AU)

Heterotopías para la infancia: reflexiones a propósito de su "desaparición" y del "final de su educación" / Heterotopias para a infância: reflexões com referência a sua "desaparição" e o "final da sua educação" / Childhood heterotopies: reflections on its "disappearance" and on "the end of its education"

Este escrito presenta una serie de trabajos que, bajo presupuestos sobre la infancia como construcción socio histórica, tratan la relación infancia, educación y sociedad. En él se reflexiona sobre las sugerentes y controvertibles tesis acerca de la “desaparición de la infancia”, la “infancia como ficción”, la “infancia como medio de la educación”, la “finitud de la pedagogía” y el “final de la educación”. Al final se hace referencia al nuevo reality “Kid Nation” como pretexto para volver sobre los debates teóricosanteriormente tratados y situar nuevamente el debate acerca de las maneras cambiantes con las que comprendemos la infancia en la actualidad, pero también como ejemplo de un espacio heterotópico en el que las representaciones sociales de la infancia se desestabilizan de un modo socialmente permitido que, a su vez, fascina y cuestiona a la sociedad.

Este escrito apresenta uma série de trabalhos que, de acordo com as abordagens sobre a infância como construção sócio-histórica, tratam a relação infância, educação e sociedade. É uma reflexão sobre as teses sugestivas e contestáveis sobre a “desaparição da infância”, a “infância como ficção”, a “infância como um médio de educação”, a “limitação da pedagogia” e o “fim da educação”. Para finalizar há uma referência ao novo reality Kid Nation como um pretexto para voltar sobre os debates teóricos tratados anteriormente e situar novamente o debate sobre as formas variáveis como nós compreendemos a infância hoje em dia, mas também como um exemplo de um espaço heterotópico onde as representações sociais da infância desestabilizamse de uma maneira socialmente permitida que, ao mesmo tempo, fascina e questiona à sociedade.

The paper summarizes a series of works that–under the assumption of childhood as a socio-historical construction–deal with the relationships among childhood, education, and society. The author reflects on the current suggestive and debatable assertions about the “disappearance of childhood”, “childhood as fiction”, “childhood as educational medium”, “the finitude of pedagogy”, and “the end of education”. Towards the end, the reference is redirected to the new reality “Kid Nation”, as a pretext to return to the above mentioned theoretical discussions in order to situate anew the debate on the changing ways in which we attempt to understand childhood at the present time, but also as an example of a heterotopic space in which social representations of childhood are destabilized in socially permissible modes that, in turn, bedazzle and criticize society.