4 research outputs found
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
26 páginas, 4 figuras, 3 tablasOur clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated cases compatible with abnormal brain iron deposits are known. The patients were evaluated using standardised clinical assessments of ataxia and MDs. First, NBIA genes were analysed by Sanger sequencing and 59 patients achieved a diagnosis, including the detection of the founder mutation PANK2 p.T528M in Romani people. Then, we used a custom panel MovDisord and/or exome sequencing; 29 cases were solved with a great genetic heterogeneity (34 different mutations in 23 genes). Three patients presented brain iron deposits with Fe-sensitive MRI sequences and mutations in FBXO7, GLB1, and KIF1A, suggesting an NBIA-like phenotype. Eleven patients showed very early-onset ataxia and CA with cortical hyperintensities caused by mutations in ITPR1, KIF1A, SPTBN2, PLA2G6, PMPCA, and PRDX3. The novel variants were investigated by structural modelling, luciferase analysis, transcript/minigenes studies, or immunofluorescence assays. Our findings expand the phenotypes and the genetics of MDs and ataxias with early-onset CA and cortical hyperintensities and highlight that the abnormal brain iron accumulation or early cerebellar gliosis may resembling an NBIA phenotype.This work was supported by the Instituto de Salud Carlos III (ISCIII)—Subdirección
General de Evaluación y Fomento de la Investigación within the framework of the National R +
D+I Plan co-funded with European Regional Development Funds (ERDF) [Grants PI18/00147 and
PI21/00103 to CE]; the Fundació La Marató TV3 [Grants 20143130 and 20143131 to BPD and CE];
and by the Generalitat Valenciana [Grant PROMETEO/2018/135 to CE]. Part of the equipment
employed in this work was funded by Generalitat Valenciana and co-financed with ERDF (OP ERDF
of Comunitat Valenciana 2014–2020). PS had an FPU-PhD fellowship funded by the Spanish Ministry
of Education, Culture and Sport [FPU15/00964]. IH has a PFIS-PhD fellowship [FI19/00072]. ASM
has a contract funded by the Spanish Foundation Per Amor a l’Art (FPAA)Peer reviewe
Dataset of observables for UOX and MOX spent fuel extracted from Serpent2 fuel depletion calculations for PWRs
This database contains the isotopic mass density and the contribution to activity, decay heat, photon emission, spontaneous fission rate, (α,n) emission rates and radiotoxicity of 150 nuclides that are present in nuclear fuel irradiated in PWRs. These nuclides are of paramount importance for nuclear waste characterization and fuel cycle analysis. These values were obtained by depletion calculations based on a 3D pin-cell geometry model and performed with the Monte Carlo reactor physics burnup calculation code Serpent2, with state-of-the-art nuclear data libraries and relevant methods. The calculations cover a wide range of burnup levels for conventional PWRs and take into account both UOX and MOX fuel. A broad span for initial enrichment for UOX (from 1.5% to 6.0%), and for both the initial plutonium content (from 4.0% to 12.0% and the plutonium isotopic composition of MOX has been considered. This database has been made publicly available due to its relevance in the fields of waste and fuel characterization, nuclear safeguards and radiation protection, and it will allow other potential users to avoid the time-consuming calculations required to obtain the aforementioned data. Additionally, it constitutes an interesting dataset for model training in machine learning applications related to nuclear science and engineering
Evaluación de un entorno de rehabilitación cognitiva basado en tecnologías de Vídeo Interactivo y Eye-Tracking
La incorporación de las nuevas tecnologías al proceso de rehabilitación ha permitido incrementar la intensidad de los tratamientos, personalizándolos y prolongándolos en el tiempo de forma sostenible. Los Entornos Virtuales (EV) interactivos apoyados en esta tendencia permiten reproducir Actividades de Vida Diaria (AVD) controladas que incrementan el valor ecológico de las terapias. Por sus características, el Vídeo Interactivo (VI) es una tecnología idónea para el desarrollo de EV sobre los que el neuropsicólogo implemente estrategias de intervención terapéutica. Este trabajo tiene por objetivo evaluar el entorno de rehabilitación cognitiva desarrollado mediante VI e integrado con un sistema de Eye-Tracking (ET), para ser utilizado por pacientes con un déficit cognitivo. Para ello, se ha diseñado y desarrollado un estudio experimental en el que se ha evaluado la madurez del sistema en términos de robustez y usabilidad, capacidad de monitorización, y capacidad para guiar a los sujetos a través del entorno. El análisis de los datos resultantes de la monitorización durante el estudio realizado con 34 sujetos sanos demuestra que el entorno cumple los requisitos necesarios para ser incorporado en terapias de rehabilitación cognitiva