Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier

Med Clin (Barc). 2006 Jun 17;127(3):81-5. [Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier] [Article in Spanish] Ormazabal A, García Cazorla A, Pérez Dueñas B, Pineda M, Ruiz A, López Laso E, García Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernández Alvarez E, Campistol J, Artuch R. Hospital Sant Joan de Déu, Esplugues, Barcelona, España. Abstract BACKGROUND AND OBJECTIVE: In the last few years, it has been described inborn errors of neurotransmitter and pterin metabolism and defects in folate and glucose transport across blood brain barrier. All these defects are classified as rare diseases and needs cerebrospinal fluid (CSF) sample analysis for diagnosis. Our aim was to evaluate the results of the application of a CSF analysis protocol in a pediatric population from Spain and Portugal presenting with neurological disorders of unknown origin. PATIENTS AND METHOD: We studied CSF samples from and 283 patients with neurological disorders of unknown origin and 127 controls. Neurotransmitters were analysed by HPLC with electrochemical detection, and pterins and 5-methyltetrahydrofolate were determined by HPLC with fluorescence detection. RESULTS: We diagnosed 3 patients with tyrosine hidroxylase deficiency, 2 with dopa responsive dystonia, 14 with GTP-ciclohydrolase deficiency, 2 with glucose transport deficiency and 43 with cerebral folate deficiency. CONCLUSIONS: This study allowed us to diagnose new patients, and more importantly, the establishment in all of them of a pharmacological or nutritional treatment. The most frequent defect found was CSF 5-methyltetrahydrofolate deficiency, which was present in different groups of patients. PMID: 16827996 [PubMed - indexed for MEDLINE

Discos interactivos : unidad IV almacenamiento y flujo de la información genética. Proyecto papime en210804

Se presenta un conjunto de tres CDs para la enseñanza de la Biología Celular a nivel" licenciatura. Los cds acompañan a tres libros de texto de formato pequeño, tamaño esquela. Los CD-ROM, contienen: Unidades didácticas desarrolladas con conceptos esenciales de Biología Celular, vinculados a artículos de apoyo a la docencia (en formato pdf), gráficos, tablas y animaciones de procesos celulares. Imágenes y animaciones en power point y flash (50), que permiten realizar un recorrido visual e interactivo por los conceptos y procesos involucrados en la enseñanza de la Biología Celular. Autevaluaciones, que le permiten al alumno valorar si han adquirido los conocimientos fundamentales de cada unidad. Un glosario, para que el alumno se pueda referir a él en cualquier momento de estudio, para que aclare sus dudas con respecto a los conceptos. Enlaces a sitios confiables en la red, los cuales pueden contener: imágenes en 3D, animaciones, información relevante y ejercicios de cada tema

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations : Overlap of TWNK-related recessive disorders

Altres ajuts: This research was supported with cofounding from the European Regional Development Fund (ERDF), "A way to make Europe") (to IdC); S2017/BMD‑3721‑RAREGENOMICS‑CM from the Consejería de Educación e Investigación de la Comunidad de Madrid (to MAMP).Background: Perrault syndrome is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing impairment and ovarian dysgenesis in females, whereas males have only hearing impairment. In some cases, patients present with a diversity of neurological signs. To date, mutations in six genes are known to cause Perrault syndrome, but they do not explain all clinically-diagnosed cases. In addition, the number of reported cases and the spectra of mutations are still small to establish conclusive genotype-phenotype correlations. Methods: Affected siblings from family SH19, who presented with features that were suggestive of Perrault syndrome, were subjected to audiological, neurological and gynecological examination. The genetic study included genotyping and haplotype analysis for microsatellite markers close to the genes involved in Perrault syndrome, whole-exome sequencing, and Sanger sequencing of the coding region of the TWNK gene. Results: Three siblings from family SH19 shared similar clinical features: childhood-onset bilateral sensorineural hearing impairment, which progressed to profound deafness in the second decade of life; neurological signs (spinocerebellar ataxia, polyneuropathy), with onset in the fourth decade of life in the two females and at age 20 years in the male; gonadal dysfunction with early cessation of menses in the two females. The genetic study revealed two compound heterozygous pathogenic mutations in the TWNK gene in the three affected subjects: c.85C>T (p.Arg29∗), previously reported in a case of hepatocerebral syndrome; and a novel missense mutation, c.1886C>T (p.Ser629Phe). Mutations segregated in the family according to an autosomal recessive inheritance pattern. Conclusions: Our results further illustrate the utility of genetic testing as a tool to confirm a tentative clinical diagnosis of Perrault syndrome. Studies on genotype-phenotype correlation from the hitherto reported cases indicate that patients with Perrault syndrome caused by TWNK mutations will manifest neurological signs in adulthood. Molecular and clinical characterization of novel cases of recessive disorders caused by TWNK mutations is strongly needed to get further insight into the genotype-phenotype correlations of a phenotypic continuum encompassing Perrault syndrome, infantile-onset spinocerebellar ataxia, and hepatocerebral syndrome

Targeting striatal metabotropic glutamate receptor type 5 in Parkinson's disease: bridging molecular studies and clinical trials

Metabotropic glutamate (mGlu) receptors are G protein-coupled receptors expressed primarily on neurons and glial cells modulating the effects of glutamatergic neurotransmission. The pharmacological manipulation of these receptors has been postulated to be valuable in the management of some neurological disorders. Accordingly, the targeting of mGlu5 receptors as a therapeutic approach for Parkinson's disease (PD) has been proposed, especially to manage the adverse symptoms associated to chronic treatment with classical PD drugs. Thus, the specific pharmacological blocking of mGlu5 receptors constitutes one of the most attractive non-dopaminergic-based strategies for PD management in general and for the L-DOPA-induced diskynesia (LID) in particular. Overall, we provide here an update of the current state of the art of these mGlu5 receptor-based approaches that are under clinical study as agents devoted to alleviate PD symptoms

Fusion of 8He with 206Pb around Coulomb barrier energies

The experimental study of the fusion of light neutron-rich nucleus 8He with 206Pb is reported in this work. A fusion stack of 206Pb targets has been used for this study. The most prominent evaporation residue (210Po), which has half-life of 138 days and decays by alpha emission, is populated in the reaction. Radiochemical analysis technique is used to extract the yield of this evaporation residue.Ministerio de Ciencia e Innovavión FPA2007-63074European Union 21269

Inhibition of inflammatory signaling in Pax5 mutant cells mitigates B-cell leukemogenesis

Altres ajuts: We would like to thank the "Fundación Ramón Areces," a Research Contract with the "Fundación Síndrome de Wolf-Hirschhorn o 4p-", and institutional grants from the "Fundación Ramón Areces" and "Banco de Santander" to the CBMSO. Research in the ISG group is partially supported by by Junta de Castilla y León (UIC-017, CSI001U16, and CSI234P18), and by the German Jose Carreras Foundation (DJCLS R13/26; DJCLS 07R/2019). AC-G and M.I.-H. are supported by FSE-Conserjería de Educación de la Junta de Castilla y León 2019 and 2020 (ESF- European Social Fund) fellowship, respectively. J.R.-G. is supported by a scholarship from University of Salamanca co-financed by Banco Santander and ESF.PAX5 is one of the most frequently mutated genes in B-cell acute lymphoblastic leukemia (B-ALL), and children with inherited preleukemic PAX5 mutations are at a higher risk of developing the disease. Abnormal profiles of inflammatory markers have been detected in neonatal blood spot samples of children who later developed B-ALL. However, how inflammatory signals contribute to B-ALL development is unclear. Here, we demonstrate that Pax5 heterozygosis, in the presence of infections, results in the enhanced production of the inflammatory cytokine interleukin-6 (IL-6), which appears to act in an autocrine fashion to promote leukemia growth. Furthermore, in vivo genetic downregulation of IL-6 in these Pax5 heterozygous mice retards B-cell leukemogenesis, and in vivo pharmacologic inhibition of IL-6 with a neutralizing antibody in Pax5 mutant mice with B-ALL clears leukemic cells. Additionally, this novel IL-6 signaling paradigm identified in mice was also substantiated in humans. Altogether, our studies establish aberrant IL6 expression caused by Pax5 loss as a hallmark of Pax5-dependent B-ALL and the IL6 as a therapeutic vulnerability for B-ALL characterized by PAX5 loss

Scattering of 8He on 208Pb at Energies Around the Coulomb Barrier

We have measured the angular distributions of elastic scattering and 6,4He fragments produced in the collisions of an exotic beam of 8He on a 208Pb target at laboratory energies of 18 and 22 MeV, just around the Coulomb barrier (19 MeV). The measurements were performed at the SPIRAL/GANIL facility in Caen, France. In this paper, we present preliminary data on elastic cross sections and discuss the results using optical model and coupled reaction channel calculations.Spanish Research Council FPA-2010-22131-C02-01Ministry of Science and Higher Education of Poland No. N202 03363

Effect of the use of videos in the pre-class preparation of laboratory sessions taught by flip teaching

[EN] Nowadays, it is well stablished the effectiveness of flip teaching in different areas. Video is widely used as a pre-class learning material and it is progressively replacing text-document materials. The students, 70 in total, are enrolled in the laboratory practice of the subject of Physics (Bachelor¿s Degree: Industrial Electronics and Automation Engineering) at the Universitat Politècnica de València. Student¿s perception data were collected from the results of a survey. Students were asked about the usefulness of the videos and the in-class work, paying special attention to the roll of the instructor in relation to the flip teaching methodology and the pre-class material. The students were divided into two groups. In one of them, the videos were recorded by the same instructor present at the lab session, whereas the other group, the videos used were recorded by instructors different from the instructor present at the lab. The results indicate that students feel that the videos are very useful, rather than the written documents. They attribute a high value to the instructor in the lab session as they feel more confident with their work and they can ask for help when needed. They value positively the possibility of work autonomously. Small differences have been found in the opinion of both groups being the higher in the question that concerns the preference of the videos respect to the text.This work has been supported by the Universitat Politècnica de València through the Project of Innovation and Educational Improvement Program (Projects PIME/2018/B26 and PIME/2018/B25 Convocatoria de Proyectos de Innovación y Convergencia).Meseguer Dueñas, JM.; Quiles Casado, SDLS.; Sabater I Serra, R.; Serrano, M.; Gómez-Tejedor, J.; García-Sánchez, TM.; Tort-Ausina, I.... (2020). Effect of the use of videos in the pre-class preparation of laboratory sessions taught by flip teaching. Iated. 6107-6112. https://doi.org/10.21125/inted.2020.1654S6107611

Active methods in electricity and magnetism courses: Influence of degree, academic level and gender on student performance

[EN] The performance of first-year students in electromagnetism (E&M) courses of different engineering degrees at a Spanish public university was measured using the Brief Electricity and Magnetism Assessment (BEMA), a standard research-based instrument to assess students' understanding after attending introductory courses in electricity and magnetism. In all cases, Flipped classroom (FC) built on information and communications technology was used. The objective of this paper is to analyse if the gain in the BEMA pre and post-test results is influenced by several factors such as the degree, the students' academic grade, and gender. Moreover, as some studies have shown that the students' retention of the concepts was significantly stronger in active learning than in traditional approaches, a third BEMA test was performed by the students to analyse the long-term retention gain dependence on the same factors. Students from different engineering degree programs were asked to complete two BEMA tests during the course and a third one after a few months. ANOVA tests were used to analyse the existence of significant differences in gain between student degree programs, student academic level and student gender. Results have shown no differences in the BEMA performance by degree program, but significant differences were found by academic level and gender. Retention did not depend on the degree course but on the academic level. Mean gain value by academic level, and gender was obtained and concluded that the best students presented the best gain results and that gain depends on the students' gender: males outperformed females in the BEMA tests, although there were no significant differences in the course grades. It is thus necessary to understand these differences and to implement measures in daily teaching work to improve women's performance.Authors would like to thank the Instituto de Ciencias de la Educacion (ICE) in the Universitat Politecnica de Valencia for their help, through the Innovation and Educational Quality Program and for supporting the team of the Innovacion en Metodologias Activas para el Aprendizaje de la Fisica (e-MACAFI) . This work has been supported by the UPV through the Project of Innovation and Educational Improvement Program (Projects PIME/18-19/76, PIME/18-19/88 and PIME/20-21/220 Convocatoria de Proyectos de Innovacion y Convergencia de la UPV) .Serrano, M.; Vidaurre, A.; Meseguer-Dueñas, JM.; Tort-Ausina, I.; Quiles Casado, SDLS.; Sabater I Serra, R.; García-Sanchez, T.... (2023). Active methods in electricity and magnetism courses: Influence of degree, academic level and gender on student performance. Heliyon. 9(10):1-15. https://doi.org/10.1016/j.heliyon.2023.e2049011591

2 MeV electron irradiation effects on the electrical characteristics of metal-oxide-silicon capacitors with atomic layer deposited Al<inf>2</inf>O <inf>3</inf>, HfO<inf>2</inf> and nanolaminated dielectrics

The effects of 2 MeV electron irradiation on the electrical characteristics of atomic layer deposited (ALD) high permittivity (high-k) layers of Al 2O3, HfO2 and a nanolaminate of them are evaluated. Metal-oxide-semiconductor capacitors with a nominal dielectric physical thickness of 10 nm were fabricated on different p-type and n-type silicon substrates. The capacitance-voltage (C-V) and current-voltage (I-V) characteristics of the different structures are analyzed as a function of electron irradiation. A progressive negative shift of the C-V characteristics is observed with increasing electron irradiation, indicating the generation of effective positive charges. Similar generation rates for effective trapped charges and interface states are obtained for all the different high-k dielectric layers studied. The hysteresis of the C-V curves after irradiation increases in the case of Al2O3 samples, for HfO 2 decreases while the irradiation has little impact on the hysteresis of the nanolaminate stack. A progressive increase of the leakage current with electron irradiation dose is observed for all the studied dielectrics. The analysis of the current-voltage characteristics measured at different temperatures point to Poole-Frenkel as the dominant conduction mechanism. Under the studied conditions, no impact of electron irradiation fluence on dielectric breakdown voltage has been appreciated. © 2012 Elsevier Ltd. All rights reserved.Peer reviewe