Search results for "ètica"
showing 10 items of 343 documents
Neuroética: bases para la introducción de la neuroimagen en el proceso judicial penal
2020
En el presente trabajo se efectúa una aproximación general a los reparos éticos que la investigación neurocientífica plantea, especialmente respecto de sus usos extralimitados en el proceso penal. Así pues, con el objetivo de regular un uso adecuado, respetuoso con los principios generalmente aceptados en el ámbito biomédico, se desarrolla una propuesta de regulación ética de esta materia que preceda a su uso probatorio en el ámbito forense.
Tècniques d'anàlisi genètica: Tema 6
2014
El document forma part dels materials docents programats mitjançant l'ajut del Servei de Política Lingüística de la Universitat de València. Tema 6 de 8, de què consta l'assignatura. Presenta l'ús de marcadors de grups de lligament en espècies model, tant en les que tenen l'entrecreuament limitat a un dels dos sexes com en les que els dos sexes presenten entrecreuament.
Retinoblastoma and mosaic 13q deletion: a case report
2021
Abstract Background Patients with 13q-syndrome are at risk of retinoblastoma when the RB1 gene, located in the chromosomal band 13q14.2, is deleted. This syndrome is frequently associated with congenital malformations and developmental delay, although these signs could be mild. Mosaic 13q-deletion patients have been previously reported in the literature; their phenotype is variable, and they may not be recognized. Case presentation Retinoblastoma diagnosed in a child with 13q-mosaicism confirmed in blood, oral mucosa, healthy retina and retinoblastoma. A second RB1 hit is present exclusively in the retinoblastoma sample (RB1 c.958C>T p.Arg320Ter). Other detected molecular events in retin…
Pharmacogenetics in Neuroblastoma: What Can Already Be Clinically Implemented and What Is Coming Next?
2021
Pharmacogenetics is one of the cornerstones of Personalized Precision Medicine that needs to be implemented in the routine of our patients’ clinical management in order to tailor their therapies as much as possible, with the aim of maximizing efficacy and minimizing toxicity. This is of great importance, especially in pediatric cancer and even more in complex malignancies such as neuroblastoma, where the rates of therapeutic success are still below those of many other types of tumors. The studies are mainly focused on germline genetic variants and in the present review, state of the art is presented: which are the variants that have a level of evidence high enough to be implemented in the c…
What we learn about bipolar disorder from large-scale neuroimaging
2020
Abstract MRI‐derived brain measures offer a link between genes, the environment and behavior and have been widely studied in bipolar disorder (BD). However, many neuroimaging studies of BD have been underpowered, leading to varied results and uncertainty regarding effects. The Enhancing Neuro Imaging Genetics through Meta‐Analysis (ENIGMA) Bipolar Disorder Working Group was formed in 2012 to empower discoveries, generate consensus findings and inform future hypothesis‐driven studies of BD. Through this effort, over 150 researchers from 20 countries and 55 institutions pool data and resources to produce the largest neuroimaging studies of BD ever conducted. The ENIGMA Bipolar Disorder Workin…
Erradicando la xenofobia y la aporofobia desde la compasión ética como capacidad clave de la neuroeducación moral
2021
Drawing on the contributions of some of the most recent and relevant studies on neuroethics and moral neuroeducation, this paper undertakes an analysis of compassion. In order to focus on the results of this neuroscientific research a reductionist naturalist framework is set aside in order to embrace the broader outlook of a moral neuroeducation that, firstly, refuses to reduce its normative character to the human capacity for evolutionary adaptation; and, secondly, seeks to locate within the brain the neuronal foundations for the development of a capacity for compassion towards those of one’s own community, and also those from outside it. Thereby, this capacity for compassion moves beyond …
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
2022
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…
Cuidado y responsabilidad: de Hans Jonas a Carol Gilligan
2019
El objetivo de este trabajo es situar la ética del cuidado en contexto de las éticas de la responsabilidad. Para ello analizamos la orientación hacia el cuidado en las éticas de la responsabilidad mostrando la transición de una responsabilidad limitada por el cálculo consecuencialista en la actividad política, a una responsabilidad integral exigida por la preservación de la naturaleza ante los desafíos de la ciencia y la técnica. Interpretamos la aportación de Carol Gilligan en términos de «provocación » a la ética contemporánea para que el cuidado no sea únicamente una categoría sentimental o afectiva sino una categoría con la que reconstruir reflexivamente la justicia social. Esta interpr…
Les xarxes transeuropees d'energia
2023
El documento ha recibido ayuda de la Cátedra UNESCO 2023 de la Universitat de València. En aquesta publicación es descriu la politica de la Unió Europea sobre les xarxes transeuropees d'energia i la seva actualització de 2022 amb el Reglament (UE) 2022/869.
L'estratègia per a la integració del sistema energètic
2023
El documento ha recibido ayuda de la Cátedra UNESCO 2023 de la Universitat de València. En esta publicació estudie l'Estratègia per a la integració del sistema energètic dins del Pacte Verd Europeu. In this publication I discuss the European Commission's Strategy for Energy System Integration in the framework of the European Green Deal.