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result(s) for
"Rovira, Paula"
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Structural brain imaging studies offer clues about the effects of the shared genetic etiology among neuropsychiatric disorders
by
Buitelaar, Jan K
,
Stein, Dan J
,
van den Heuvel Odile A
in
Attention deficit hyperactivity disorder
,
Autism
,
Bipolar disorder
2021
Genomewide association studies have found significant genetic correlations among many neuropsychiatric disorders. In contrast, we know much less about the degree to which structural brain alterations are similar among disorders and, if so, the degree to which such similarities have a genetic etiology. From the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) consortium, we acquired standardized mean differences (SMDs) in regional brain volume and cortical thickness between cases and controls. We had data on 41 brain regions for: attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder (BD), epilepsy, major depressive disorder (MDD), obsessive compulsive disorder (OCD), and schizophrenia (SCZ). These data had been derived from 24,360 patients and 37,425 controls. The SMDs were significantly correlated between SCZ and BD, OCD, MDD, and ASD. MDD was positively correlated with BD and OCD. BD was positively correlated with OCD and negatively correlated with ADHD. These pairwise correlations among disorders were correlated with the corresponding pairwise correlations among disorders derived from genomewide association studies (r = 0.494). Our results show substantial similarities in sMRI phenotypes among neuropsychiatric disorders and suggest that these similarities are accounted for, in part, by corresponding similarities in common genetic variant architectures.
Journal Article
Schizophrenia polygenic risk score in psychosis proneness
by
Rovira, Paula
,
Via, Marc
,
Torrecilla, Pilar
in
Genome-wide association studies
,
Genomes
,
Mental disorders
2023
Schizophrenia (SZ) is a complex disorder with a highly polygenic inheritance. It can be conceived as the extreme expression of a continuum of traits that are present in the general population often broadly referred to as schizotypy. However, it is still poorly understood how these traits overlap genetically with the disorder. We investigated whether polygenic risk for SZ is associated with these disorder-related phenotypes (schizotypy, psychotic-like experiences, and subclinical psychopathology) in a sample of 253 non-clinically identified participants. Polygenic risk scores (PRSs) were constructed based on the latest SZ genome-wide association study using the PRS-CS method. Their association with self-report and interview measures of SZ-related traits was tested. No association with either schizotypy or psychotic-like experiences was found. However, we identified a significant association with the Motor Change subscale of the Comprehensive Assessment of At-Risk Mental States (CAARMS) interview. Our results indicate that the genetic overlap of SZ with schizotypy and psychotic-like experiences is less robust than previously hypothesized. The relationship between high PRS for SZ and motor abnormalities could reflect neurodevelopmental processes associated with psychosis proneness and SZ.
Journal Article
The pornography of confinement. Porn expressions about the coronavirus
2022
This text analyzes videos that have erotized situations linked to COVID-19, in which the use of gloves, masks, alcohol gel, or protective gear have represented the context of the pandemic, and that are referred to here as “pornography of confinement.” The aim of this article is to explore the characteristics of this type of pornography and analyze the links between such videos and demands upon the biopolitical subject, who is to be responsible for their own health. Approximately twenty-seven videos from the website Pornhub were reviewed, with special attention to ten that were entitled The Cleanest Porn Ever. All these materials aim to promote “safe sex” based on social distancing, viewing pornography, or learning hygienic techniques to avoid infection. Diverse theories, news stories, and data on this topic were used in the analysis. Among the key findings, pornography of confinement reflects the liberal subjectivity, as the individuals represented are not interested in strengthening social ties or participating in cultural change but rather in attending to their own immediate and individual needs. Finally, it is concluded that reality is simplified in this type of pornography by connecting people with “positive” emotions, discarding the potential for change that entails ties to the collective.
Journal Article
La pornografía del confinamiento. Expresiones porno sobre el coronavirus
2022
En el presente texto se analizan los videos que han erotizado algunas situaciones ligadas a la covid-19, como el uso de guantes, mascarillas, alcohol en gel o trajes de protección para representar el contexto específico de la pandemia y que aquí se denomina “pornografía del confinamiento”. Los objetivos del artículo son explorar las características de este tipo de pornografía y analizar los vínculos entre tales videos y la exigencia hacia el sujeto biopolítico de que se responsabilice por su salud. Se revisaron alrededor de veintisiete videos de la página Pornhub, prestando especial atención a diez que fueron titulados The Cleanest Porn Ever. Todos estos materiales buscan promover el “sexo seguro” basado en el distanciamiento social, en la visualización de pornografía o en el aprendizaje de técnicas higiénicas para evitar el contagio. En el análisis se utilizaron diversas teorías, noticias y estadísticas sobre el tema. Entre los hallazgos encontrados sobresale que la pornografía del confinamiento es un reflejo de la subjetividad liberal, en la que los individuos no están interesados en fortalecer el lazo social o participar en modificaciones culturales, sino en atender sus necesidades inmediatas e individuales. Finalmente, se concluye que con este tipo de pornografía se simplifica la realidad al conectar a las personas con emociones “positivas”, descartando la potencia de las modificaciones que implican vínculos con la comunidad.
Journal Article
Epigenome-wide association study of attention-deficit/hyperactivity disorder in adults
2020
Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable neurodevelopmental disorder that often persists into adulthood. There is growing evidence that epigenetic dysregulation participates in ADHD. Given that only a limited number of epigenome-wide association studies (EWASs) of ADHD have been conducted so far and they have mainly focused on pediatric and population-based samples, we performed an EWAS in a clinical sample of adults with ADHD. We report one CpG site and four regions differentially methylated between patients and controls, which are located in or near genes previously involved in autoimmune diseases, cancer or neuroticism. Our sensitivity analyses indicate that smoking status is not responsible for these results and that polygenic risk burden for ADHD does not greatly impact the signatures identified. Additionally, we show an overlap of our EWAS findings with genetic signatures previously described for ADHD and with epigenetic signatures for smoking behavior and maternal smoking. These findings support a role of DNA methylation in ADHD and emphasize the need for additional efforts in larger samples to clarify the role of epigenetic mechanisms on ADHD across the lifespan.
Journal Article
Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder
2017
Attention Deficit Hyperactivity Disorder (ADHD) is a common childhood-onset neurodevelopmental condition characterized by pervasive impairment of attention, hyperactivity, and/or impulsivity that can persist into adulthood. The aetiology of ADHD is complex and multifactorial and, despite the wealth of evidence for its high heritability, genetic studies have provided modest evidence for the involvement of specific genes and have failed to identify consistent and replicable results. Due to the lack of robust findings, we performed gene-wide and pathway enrichment analyses using pre-existing GWAS data from 607 persistent ADHD subjects and 584 controls, produced by our group. Subsequently, expression profiles of genes surpassing a follow-up threshold of P-value < 1e-03 in the gene-wide analyses were tested in peripheral blood mononucleated cells (PBMCs) of 45 medication-naive adults with ADHD and 39 healthy unrelated controls. We found preliminary evidence for genetic association between
RNF122
and ADHD and for its overexpression in adults with ADHD.
RNF122
encodes for an E3 ubiquitin ligase involved in the proteasome-mediated processing, trafficking, and degradation of proteins that acts as an essential mediator of the substrate specificity of ubiquitin ligation. Thus, our findings support previous data that place the ubiquitin-proteasome system as a promising candidate for its involvement in the aetiology of ADHD.
Journal Article
LA POBREZAFILIA. LA PORNIFICACIÓN DE LA POBREZA EN AMÉRICA LATINA
2022
Este artículo pretende debatir sobre la pobrezafilia, es decir, sobre la exposición fotográfica sensualizada de mujeres en viviendas pobres de América Latina. En dichas imágenes, la ambientación que muestra la clase social baja de sus protagonistas tiene, inclusive, mayor importancia que los mismos cuerpos de estas jóvenes. Para hacer el análisis se estudiaron diversas imágenes que aparecieron en internet bajo este descriptor, así como otros documentos que han servido para contextualizar parte de los antecedentes relacionados a la producción de deseo de este tipo de imágenes eróticas.
Journal Article
Haciendo las preguntas correctas. Foucault, poder y sexualidad
2015
This paper aims to point out the prevalence that has existed in looking at sexuality from an approach that raises the repressive hypothesis as its horizon. This is to saythat sexuality has been largely repressed and analyzed as a constrained space by different actors, laws, institutions, cultures, etc. The above has been influenced in Latin America by using a framework of analysis of \"power to\" and \"power on\", that looks al power as good or bad, depending on its purpose and results. This view of the repressive hypothesis directly influences the way in how it is investigated, the questions asked and the results that are obtained.This paper aims to present the theoretical and analytical potential of Foucault's theory in these studies in order to allow another type of approach to these issues to move away from looking atsexuality as a site of repression or liberation.
Journal Article
Isolation and characterization of a jacalin-related mannose-binding lectin from salt-stressed rice (Oryza sativa) plants
by
Barre, Annick
,
Rovira, Paula
,
Jalali, Ali A. H.
in
Agglutination
,
Agglutinins
,
Amino Acid Sequence
2000
A novel plant lectin was isolated from salt-stressed rice (Oryza sativa L.) plants and partially characterized. The lectin occurs as a natural mixture of two closely related isoforms consisting of two identical non-covalently linked subunits of 15 kDa. Both isoforms are best inhibited by mannose and exhibit potent mitogenic activity towards T-lymphocytes. Biochemical analyses and sequence comparisons further revealed that the rice lectins belong to the subgroup of mannose-binding jacalin-related lectins. In addition, it could be demonstrated that the lectins described here correspond to the protein products of previously described salt-stress-induced genes. Our results not only identify the rice lectin as a stress protein but also highlight the possible importance of protein-carbohydrate interactions in stress responses in plants.
Journal Article
The Impact of Immunosuppressive Drugs on the Analysis of T-Cell Activation
by
Laurent Mascarell
,
Paula Rovira
,
Paolo Bachi
in
Calcium
,
Cell Membrane - drug effects
,
Cell Membrane - metabolism
2000
The discovery of the immunosuppressive properties of cyclosporin A (CSA) and its successful utilisation in organ transplantation was a milestone in clinics. CSA has revolutionised transplantation both in term of efficiency and quality-of-life of the patient. In addition, the analysis of the mode of action of CSA has been rewarding in the understanding the mecha-nisms leading to T lymphocytes activation. CSA binds to a family of cytosolic receptors, the cyclophilins, a highly conserved family of proteins. Once this complex is formed, a third protein, the calcineurin, is recruited. The calcineurin, a calcium-dependent phosphatase, loose its activity when complexed. Dephosphorylation of NFAT, a substrate of calcineurin is a mandatory step for its translocation to the nucleus where NFAT acts as a transactivator involved in the regulation of the genes encoding many cytokines. CSA preventing NFAT dephosphorylation blocks cytokine production this in turn allowing for a better engrafting. The resolution of the tertiary structure of CSA alone or complexed with cyclophilin and calcineurin has important implication in the modelling of new drugs devoid of its side effects. Indeed, the high incidence of cancer is one of the main problems linked to CSA utilisation. Recent data suggest that CSA may promote cancer inducing the transcription of the gene encoding transforming growth factor b. Other molecules sharing with CSA its immunosuppressive activity were later described. Some of them, as FK506, have the some mode of action; others, as rapamycin, mycophenolate mofetil or leflunomide, act at different steps of T cell activation.
Journal Article