Relaciones entre el abuso sexual intrafamiliar —incesto — y el psicoanálisis : articulaciones clínicas a partir del cine

Se investigan las relaciones entre el psicoanálisis y el abuso sexual intrafamiliar o incesto, a partir del estudio de caso y articulación de seis películas que abordan esta temática. Se indaga sobre el lugar que tiene esta problemática desde los inicios de esta teoría y sus vicisitudes a lo largo de su construcción, legitimación y desarrollo como método y técnica, concluyendo en los aportes de la clínica psicoanalítica actual. A través de una lectura crítica del problema del abuso sexual intrafamiliar se reconsidera el alcance y vigencia de conceptos psicoanalíticos, como una posible contribución preliminar a la actualización de algunas de las herramientas conceptuales del psicoanálisis para su descripción, comprensión y abordaje. Con la renuncia a la teoría de la seducción el incesto es invisibilizado en la teoría psicoanalítica como abuso sexual intrafamiliar realmente sucedido, apareciendo solo como prohibición y como fantasías del lado del infante en el marco del complejo de Edipo. Se observa un sesgo de género en las teorías, en los códigos jurídicos y sus interpretaciones, que definen y legitiman intervenciones que se relacionan a una construcción política del abuso sexual. Las dimensiones del problema que constituye, a la vez que un daño psíquico importante con efectos de arrasamiento subjetivo, un delito sexual y una grave vulneración de los derechos humanos hacen imprescindible la articulación con otros campos disciplinares, especialmente el jurídico. Es relevante la instalación y desarrollo de la temática en la currícula de grado y posgrado en la licenciatura de Psicología, desde una perspectiva de género y derechos humanos, con un fuerte tratamiento y problematización de los aspectos éticos de los campos discursivos que la abordan y de las intervenciones que se sostienen desde ellos. El aumento de denuncias en número significativo a nivel nacional y mundial se relaciona con una problemática que debe seguir recibiendo atención de los cientistas sociales, para contribuir al desarrollo y profundización de medidas de prevención y estrategias públicas que en Uruguay se están implementando.Relations between psychoanalysis and intra-familiar sexual abuse or incest are researched from the case study and the articulation of six films about the topic. The place this difficulty occupies is enquired from the beginning of this theory and its vicissitudes over its construction, legitimation and development as method and technique, concluding in the input of current clinical psychoanalysis. The extent and validity of psychoanalytical concepts is reconsidered through the critical reading of the problem of intra-familiar sexual abuse, as a possible preliminary contribution to the update of some conceptual tools of psychoanalysis for its description, understanding and approach. Withdrawing the theory of seduction, incest is made invisible in the psychoanalytical theory as intra-familiar sexual abuse reliably happened, appearing only as prohibition and childish fantasy under Oedipus complex. Gender bias is observed in the theories, legal codes and their interpretations, which define and legitimate interventions related to a political construction of sexual abuse. The dimensions of a problem that constitute, not only an important psychic damage with subjective sweeping effect, but also a sexual crime and critical vulnerability of human rights, make essential the articulation with other disciplines, especially the legal one. It is relevant the setting and development of the theme in the curriculum of grade and post grade of Psychology Degree from a gender and human rights perspective, with a strong treatment and questioning of ethical aspects in the discursive fields that approach them and the interventions sustained from them. The significant increase in the number of complaints at a national and global level is related to the problem which must continue to receive attention from social scientists, to contribute to the development and deepening of prevention measures and public strategies being implemented

Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease

BACKGROUND: Lafora disease is an autosomal recessive form of progressive myoclonic epilepsy caused by defects in the EPM2A and EPM2B genes. Primary symptoms of the pathology include seizures, ataxia, myoclonus, and progressive development of severe dementia. Lafora disease can be caused by defects in the EPM2A gene, which encodes the laforin protein phosphatase, or in the NHLRC1 gene (also called EPM2B) codifying the malin E3 ubiquitin ligase. Studies on cellular models showed that laforin and malin interact and operate as a functional complex apparently regulating cellular functions such as glycogen metabolism, cellular stress response, and the proteolytic processes. However, the pathogenesis and the molecular mechanism of the disease, which imply either laforin or malin are poorly understood. Thus, the aim of our study is to elucidate the molecular mechanism of the pathology by characterizing cerebral cortex neurodegeneration in the well accepted murine model of Lafora disease EPM2A-/- mouse. RESULTS: In this article, we want to asses the primary cause of the neurodegeneration in Lafora disease by studying GABAergic neurons in the cerebral cortex. We showed that the majority of Lafora bodies are specifically located in GABAergic neurons of the cerebral cortex of 3 months-old EPM2A-/- mice. Moreover, GABAergic neurons in the cerebral cortex of younger mice (1 month-old) are decreased in number and present altered neurotrophins and p75NTR signalling. CONCLUSIONS: Here, we concluded that there is impairment in GABAergic neurons neurodevelopment in the cerebral cortex, which occurs prior to the formation of Lafora bodies in the cytoplasm. The dysregulation of cerebral cortex development may contribute to Lafora disease pathogenesis

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Fabry disease in the Spanish population: observational study with detection of 77 patients

Abstract Background Fabry disease is a multisystemic lysosomal storage disorder caused by the impairment of α-galactosidase A. The incidence of this rare disease is underestimated due to delayed diagnosis. Moreover, the management of the identified subjects is often complicated by the detection of variants of unclear diagnostic interpretation, usually identified in screening studies. We performed an observational study based on biochemical and genetic analysis of 805 dried blood spot samples from patients with clinical symptoms or family history of this pathology, which were collected from 109 Spanish hospitals, all over the country. Results We identified 77 new diagnosed patients with mutations related to classical Fabry disease, as well as 2 subjects with c.374A > T; p.His125Leu, a possible new mutation that need to be confirmed. Additionally, we detected 8 subjects carrying genetic variants possibly linked to late onset Fabry disease (p.Arg118Cys and p.Ala143Thr), 4 cases with polymorphism p.Asp313Tyr and 36 individuals with single nucleotide polymorphisms in intronic regions of GLA. Five of the identified mutations (c.431delG; c.1182delA; c.374A > T; c.932 T > C; c.125 T > A; c.778G > A), which were associated with a classical phenotype have not been previously described. Moreover 3 subjects presenting complex haplotypes made up by the association of intronic variants presented impaired levels of GLA transcripts and Gb3 deposits in skin biopsy. Conclusions Enzymatic screening for Fabry Disease in risk population (2 or more clinical manifestations or family history of the disease) helped to identify undiagnosed patients and unravel the impairment of GLA expression in some subjects with complex haplotypes

Genotypic and phenotypic features of McArdle disease: Insights from the Spanish national registry

Published genotype/phenotype data on McArdle disease are limited in sample size. A single national (Spanish) registry of patients with McArdle disease was created with the purpose of analysing their genotypic and phenotypic characteristics.4.924 JCR (2012) Q1, 17/191 Clinical neurology, 17/135 Psychiatry, 4/198 SurgeryUE

Elevated Anti-SARS-CoV-2 Antibodies and IL-6, IL-8, MIP-1β, Early Predictors of Severe COVID-19

Viral and host immune kinetics during acute COVID-19 and after remission of acute symptoms need better characterization. SARS-CoV-2 RNA, anti-SARS-CoV-2 IgA, IgM, and IgG antibodies, and proinflammatory cytokines were measured in sequential samples from hospitalized COVID-19 patients during acute infection and six months following diagnosis. Twenty four laboratory confirmed COVID-19 patients with mild/moderate and severe COVID-19 were included. Most were males (83%) with a median age of 61 years. Twenty one percent were admitted to the intensive care unit (ICU) and eight of them (33.3%) met the criteria for severe COVID-19 disease. A delay in SARS-CoV-2 levels' decline during the first six days of follow up, and viral load persistence until month 3 were related to severe COVID-19, but not viral load levels at the diagnosis. Higher levels of anti-SARS-CoV-2 IgA, IgM, IgG and the cytokines IL-6, IL-8 and MIP-1β at the diagnosis time were related to the severe COVID-19 outcome. Higher levels of MIP-1β, IL-1β, MIP-1α and IFN-γ were observed at month 1 and 3 during mild/moderate disease, compared to severe COVID-19. IgG persisted at low levels after six months of diagnosis. In conclusion, higher concentrations of IgA, IgM, and IgG, and IL-6, IL-8 and MIP-1β are identified as early predictors of COVID-19 severity, whereas no significant association is found between baseline SARS-COV-2 viral load and COVID-19 severity.This work was supported by the Plan Estatal de I+D+I 2013-2016 and 2017–2020 and cofinanced by the Instituto de Salud Carlos III (ISCIII)—Subdirección General de Evaluación y Fomento de la investigación del Fondo Europeo de Desarrollo Regional (FEDER), Fondo COVID19 of Instituto de Salud Carlos III (COV20/00698), RETICS, Red de Investigación en SIDA [RD16/0025/0026]; and Fundación Biomédica Galicia Sur. E.R-M. was supported by the Spanish Research Council (CSIC) and by the research grant CV20-85418 from the Consejería de Transformación Económica, Industria, Conocimiento y Universidades (Junta de Andalucía). A.P. was supported by the Instituto de Salud Carlos III, Subprograma Rio Hortega (CM20/00243). A.G.-V. was supported by the Instituto de Salud Carlos III, cofinanced by the European Development Regional Fund (“A way to achieve Europe”), Subprograma Miguel Servet (CP19/00159). E.M.M. was supported by the Instituto de Salud Carlos III, cofinanced by the European Development Regional Fund (“A way to achieve Europe”), Subprogram PFIS (FI19/00304). C.K. was supported by Fondo COVID19 of Instituto de Salud Carlos III (COV20/00823).Ye

Elevated anti-SARS-CoV-2 antibodies and IL-6, IL-8, MIP-1β, early predictors of severe COVID-19

Background: Viral and host immune kinetics during acute COVID-19 and after remission of acute symptoms need better characterization. Methods: SARS-CoV-2 RNA, anti-SARS-CoV-2 IgA, IgM, and IgG antibodies, and pro-inflammatory cytokines were measured in sequential samples among hospitalized COVID-19 patients during acute infection and 6 months following diagnosis. Results: 24 laboratory-confirmed COVID-19 patients with mild/moderate and severe COVID-19 were included. Most were males 83%, median age of 61 years. 21% were admitted to the ICU and 8 of them (33.3%) met criteria for severe COVID-19 disease. A delay in SARS-CoV-2 levels decline during the first 6 days of follow-up and viral load persistence until month 3 were related with severe COVID-19, but not viral load levels at the diagnosis. Higher levels of anti-SARS-CoV-2 IgA, IgM, IgG and the cytokines IL-6, IL-8 and MIP-1β at the diagnosis time were related with severe COVID-19 outcome. Higher levels of MIP-1β, IL-1β, MIP-1α and IFN-γ were observed at month 1-3 during mild/moderate disease compared to severe COVID-19. IgG persisted at low levels after 6 months of diagnosis. Conclusions: Higher concentrations of IgA, IgM, and IgG, and IL-6, IL-8 and MIP-1β are identified as early predictors of COVID-19 severity, but not SARS-CoV-2 RNA levels at diagnosis.This work was supported by Plan Estatal de I+D+I 2013-2016 and 2017-2020 and cofinanced by Instituto de Salud Carlos III (ISCIII) - Subdirección General de Evaluación y Fomento de la investigación del Fondo Europeo de Desarrollo Regional (FEDER), Fondo COVID19 of Instituto de Salud Carlos III (COV20/00698), RETICS, Red de Investigación en SIDA [RD16/0025/0026]; and Fundación Biomédica Galicia Sur. E.R-M. was supported by Spanish Research Council (CSIC) and by the research grant CV20-85418 from the Consejería de Transformación Económica, Industria, Conocimiento y Universidades (Junta de Andalucía). A.G-V was supported by the Instituto de Salud Carlos III, cofinanced by the European Development Regional Fund (“A way to achieve Europe”), Subprograma Miguel Servet (CP19/00159). E.M.M. was supported by the Instituto de Salud Carlos III, cofinanced by the European Development Regional Fund (“A way to achieve Europe”), Subprogram PFIS (FI19/00304). C.K was supported by Fondo COVID19 of Instituto de Salud Carlos III (COV20/00823).N