Acid Lipase Deficiency and Lipid Storage in Wolman\u27s Disease and E600-Treated Cells in Culture

Fibroblasts obtained from a child with Wolman’s disease and maintained in culture demonstrated acid lipase deficiency, reached senescence prematurely and exhibited an abnormal #5 chromosome. When cytogenetic analysis was repeated on frozen and stored cells, the chromosomal defect could no longer be demonstrated, but other anomalies were present. The karyotypes of other Wolman’s disease cell cultures and the parents of the proband were normal. The mother’s fibroblasts had reduced acid lipase activity, consistent with a carrier-state, but the father’s fibroblasts had normal acid lipase activity. It was possible to classify a culture as Wolman’s disease, carrier or normal by the ability of medium from the culture to reduce the lipid stored in a Wolman’s disease cell culture. The culture of the proband stored more lipid than other Wolman’s disease cultures. Two enzymes present in fetal calf serum possessing paraoxonase activity could be differentiated by their sensitivity to heating at 56°C. The esterase inhibitor E600 was slightly more toxic to Wolman’s disease than to normal cells, and was also toxic to E. coli. Normal cells exhibited lipid storage when treated with 10(-4)M E600, but a more pronounced time-dependent accumulation of lipid occurred at 10(-3)M E600. p-Nitrophenol, the major metabolite of E600, had little effect on lipid storage. The amount of lipid stored varied directly with the serum concentration and was unaffected by heat inactivation of the serum. Histochemical stains and biochemical analyses were performed on cultured fibroblasts. Both Wolman’s disease and E600-treated cells showed storage of triglycerides and cholesteryl esters, although one Wolman’s disease culture had a normal level of triglyceride. The E600-treated cells also showed a large increase in phospholipid and small increases in free cholesterol and free fatty acid. Wolman’s disease cells treated with E600 showed increases comparable to the normal E600-treated cells, but no increase of free fatty acid was seen. Wolman’s disease heterozygotes appeared to have normal amounts of lipid. Lipid in Wolman’s disease and E600-treated cells fluoresced in ultraviolet light. Cholesteryl esters of untreated normal cells had more stearic (18:0) than oleic (18:1ω9) acid, whereas cholesteryl esters in Wolman’s disease, E600-treated cells, and fetal calf serum had three times more oleic than stearic acid, suggesting that serum lipid was taken up, but not degraded, in Wolman’s disease and E600-treated cells. Three Wolman’s disease cell cultures exhibited genetic deficiency of acid lipase. Normal fibroblasts had acid lipase activity, but possessed little neutral lipase activity. Acid lipase activity of normal cells was inhibited by E600. Wolman’s disease cells resembled normal cells by scanning electron microscopy. Except in a perinuclear zone which also had not stained with oil red O or neutral red, the cytoplasm of E600-treated cells had numerous bumps which appeared to form ridges along the path of actin stress filaments. Normal cells treated with free fatty acid or cholesterol, and Wolman’s disease cells treated with free fatty acid, exhibited lipid storage in large, peripheral lipid droplets. Lipid was generally stored in smaller granules closer to the nucleus in E600-treated and Wolman’s disease cells. E600-treated cells showed increased numbers of lysosomes by neutral red staining and had increased numbers of dense bodies ultrastructurally. The dense bodies of Wolman’s disease and E600-treated cells sometimes contained lipid clefts which probably consisted of cholesteryl ester. The dense bodies accumulated colloidal gold, suggesting their identity with secondary lysosomes. Although some differences were observed, E600-treated cells resembled Wolman’s disease cells histochemically, biochemically, and ultrastructurally

Literature of autistic people

A literatura de autistas fornece indícios das condições nas quais é possível a saída do fechamento autístico. Há o testemunho da vontade de muitos autistas de romper com as barreiras de autoproteção, desde que tais condições sejam respeitadas, o que fornece indícios das possibilidades terapêuticas e dos caminhos viáveis para o tratamento.The literature of autistic people provides evidence of the conditions under which it is possible to overcome the autistic aloneness. There are several testimonies of autistic people about their will to break the barriers of self-protection, provided that some conditions are met, which provides evidence of the therapeutic possibilities and viable ways of treatment.La literatura de autistas proporciona indicadores de las condiciones en las cuales es posible la salida del repliegue autista sobre sí mismo. Existe el testimonio de la voluntad de muchos autistas de romper las barreras de autoprotección, a conditión de que dichas condiciones se cumplen, lo que proporciona los indicadores de las posibilidades terapéuticas y las formas viables para el tratamiento

Algumas estratégias de (auto) tratamento do autista

En este artículo se analiza la movilización del goce en los bordes - el uso de un objeto autístico, un doble ou un islote de competencia - como estrategias para el auto-tratamiento del autista que puden facilitar tanto un trabajo auto-terapéutico como el manejo del tratamiento por el analista.This article discusses the investment of the jouissance at the bords - the use of an autistic object, a double or an island of competence - as strategies of self-treatment by the autistic that can facilitate both a (self-) therapeutic work and the orientation of treatment by the analyst.Este artigo aborda o investimento do gozo nas bordas - o recurso a um objeto autístico, a um duplo ou a uma ilha de competência - como estratégia de autotratamento do autista que pode viabilizar tanto o trabalho auto-terapêutico quanto o manejo do tratamento pelo analista

The therapeutic writing of the autistic writer Tito Mukhopadhyay

This paper analyzes the texts written by Tito Mukhopadhyay, autistic-writer, which are portraits of his struggle to liberate himself from the autistic isolation, adressing mirroring and identification with imaginary doubles as pillars of the constitution of an image of self-body in autism. The invention of Tito's writtings portrays the therapeutic effects of writing, highlighting its importance as a major tool for (self-)treatment in autism, giving us clues about the conditions, which make possible leaving the autistic isolation, through those various created strategies that, with a relative effectiveness, allow him to keep his pseudopods extended towards others.En este trabajo se analizan textos del autista-escritor Tito Mukhopadhyay que reflejan la lucha para liberarse del aislamiento autístico, y se plantea el espejo y la identificación con los dobles como pilares de la constitución de una imagen de cuerpo propio en el autismo. La invención de la escritura de Tito evidencia los efectos terapéuticos de la escritura y destaca su importancia como una potente herramienta para el (auto)tratamiento del autismo, y nos da indicios de las condiciones bajo las cuales se puede encontrar una salida para el aislamiento autístico, por intermedio de sus varias estrategias inventadas, que, con una eficacia relativa, le permiten mantener sus pseudópodos extendidos hacia los otros.Este estudo analisa os textos de Tito Mukhopadhyay, autista-escritor, que são retratos de sua luta para se liberar do isolamento autístico, sendo abordados o espelhamento e a identificação com duplos como pilares da constituição de uma imagem do corpo próprio no autismo. A invenção da escrita de Tito retrata os efeitos terapêuticos da escrita, evidenciando sua importância enquanto importante ferramenta de (auto)tratamento no autismo, fornecendo-nos indícios das condições nas quais é possível a saída do fechamento autístico, através de suas diversas estratégias inventadas que, com uma eficácia relativa, permitem-lhe manter seus pseudópodes estendidos em direção aos outros

Identification in autism: A study of the attachment with animals in autobiographies

O presente artigo focaliza a edificação de identificações imaginárias compensatórias ancoradas no vínculo de autistas com animais. A análise qualitativa dos livros autobiográficos evidencia como autistas que manifestaram um quadro sintomatológico severo na infância saíram do quadro de autismo clássico, puderam se tornar falantes e se desenvolver em todas as áreas a partir do vínculo com um animal. Abordamos nas autobiografias acerca dos autistas Iris, Dale, Fraser e George, o vínculo paradigmático com Thula, Henry, Billy e Ben, ancorando esse percurso da edificação das identificações constitutivas do eu. Após a descrição e caracterização dos traços e funções incorporadas nessas relações identificatórias, abordaremos algumas consequências destas. Apesar de não serem traços incorporados dos outros parentais, destacamos a viabilidade de uma nova regulação libidinal no autismo. Articulando autores no interior da psicanálise que se dedicaram a pensar o autismo com os relatos autobiográficos, consideramos que essa abordagem permitiu cumprir o objetivo proposto de aprofundar o conhecimento científico acerca do autismo.This paper focuses on the construction of compensatory imaginary identifications anchored on the attachament of autists with animals. Our qualitative analysis of these autobiographical books evidenced how autistic children who manifested severe symptoms in childhood, left the classic autism, became speaking autistic and were able to develop in all areas, anchored on the relation with an animal. Through the autobiographies about autists Iris, Dale, Fraser and George, we analyse the paradigmatic attachment with Thula, Henry, Billy and Ben, anchoring this path of construction of the constitutive identifications of the ego. After the description and characterization of the traits and functions incorporated in this identificatory relationships we’ll cover some consequences of those. Despite not being traits incorporated from others/parents, we highlight the feasibility of a new libidinal regulation in autism. Articulating authors in the field of psychoanalysis that dedicated themselves to think about autism with the autobiographical accounts, we consider this approach enabled us to fulfill the proposed goal of deepening scientific knowledge about autism

Espelhos no autismo: alicerces para a criação de um estofo imaginário

En este trabajo se aborda el papel de los espejos como bases para la creación de un relleno imaginario en el autismo. A través la literatura de Tito Mukhopadhyay se discute la función psíquica del espejo cómo base para una transferencia a otro imaginario no humano, mostrando la viabilidad de la invención de un relleno imaginario en autismo que puede ser el apoyo para construir el ego y la imagen de sí mismo.This paper discusses the role of mirrors as foundations for the creation of an imaginary padding in autism. Through the literature written by Tito Mukhopadhyay, we show the psychic function of the mirror as a foundation of a transfer to another imaginary non-human, demonstrating the feasibility of the invention of an imaginary padding in autism that can be the support to build the ego and the self-image.O presente texto aborda o papel dos espelhos como alicerces para a criação de um estofo imaginário no autismo. Por meio da literatura de Tito Mukhopadhyay, demonstra-se a função psíquica do espelho como alicerce para uma alienação imaginária a um outro não humano, evidenciando a viabilidade da invenção de um estofo imaginário no autismo que pode ser o apoio para a construção do ego e da imagem de si próprio

The support of the autistic double in the construction of the imaginary in autism

Este artículo se centra en la construcción de identificaciones compensatorias con el doble autístico que pueden permitir al autista la construcción de una protección imaginaria. Se abordan a través de Donna Williams el espejo y la identificación con los dobles como los pilares para la constitución de una imagen del propio cuerpo, del surgimiento del narcisismo y de la construcción de un ego en el autismo.This paper focuses on the construction of compensatory identifications with the autistic double that shall allow the autistic to construct an imaginary padding. Through Donna Williams, we address mirroring and identification with imaginary doubles as pillars of the constitution of body image, the emergence of narcissism and the construction of an ego in autism.O presente artigo focaliza a construção de identificações compensatórias com o duplo autístico que podem permitir ao autista a construção de um estofo imaginário. Por meio de Donna Williams, são abordados o espelhamento e a identificação com duplos imaginários como pilares da constituição de uma imagem do corpo próprio, do surgimento do narcisismo e da construção de um ego no autismo