Molecular and genetic mechanism of non-syndromic congenital cataracts. Mutation screening in Spanish families

Our purpose was to identify mutations responsible for non-syndromic congenital cataracts through the implementation of next-generation sequencing (NGS) in our center. A sample of peripheral blood was obtained from probands and willing family members and genomic DNA was extracted from leukocytes. DNA was analyzed implementing a panel (OFTv2.1) including 39 known congenital cataracts disease genes. 62 probands from 51 families were recruited. Pathogenic or likely pathogenic variants were identified in 32 patients and 25 families; in 16 families (64%) these were de novo mutations. The mutation detection rate was 49%. Almost all reported mutations were autosomal dominant. Mutations in crystallin genes were found in 30% of the probands. Mutations in membrane proteins were detected in seven families (two in GJA3 and five in GJA8). Mutations in LIM2 and MIP were each found in three families. Other mutations detected affected EPHA2, PAX6, HSF4 and PITX3. Variants classified as of unknown significance were found in 5 families (9.8%), affecting CRYBB3, LIM2, EPHA2, ABCB6 and TDRD7. Mutations lead to different cataract phenotypes within the same familyThis research was funded by ONCE grant number 2020/0197782 and by FIS grant number PI18-1234-ISCII

Neuroprotective Effects of Betulinic Acid Hydroxamate in Intraventricular Hemorrhage-Induced Brain Damage in Immature Rats

Intraventricular hemorrhage (IVH) is an important cause of long-term disability in extremely preterm infants, with no current treatment. We aimed to study in an IVH model in immature rats the neuroprotective effect of betulinic acid hydroxamate (BAH), a B55α/PP2A activator that inhibits the activity of the hypoxia-inducing factor prolyl-hydroxylase type 2. IVH was induced in 1-day-old (P1) Wistar rats by the left periventricular injection of Clostridial collagenase. Then, pups received i.p. vehicle or BAH 3 mg/kg single dose. At P6, P14 and P45, brain damage (area of damage, neurobehavioral deficits, Lactate/N-acetylaspartate ratio), white matter injury (WMI: corpus callosum atrophy and myelin basic protein signal reduction) and inflammation (TLR4, NF-κB and TNFα expression), excitotoxicity (Glutamate/N-acetylspartate) and oxidative stress (protein nitrosylation) were evaluated. BAH treatment did not reduce the volume of brain damage, but it did reduce perilesional tissue damage, preventing an IVH-induced increase in Lac/NAA. BAH restored neurobehavioral performance at P45 preventing WMI. BAH prevented an IVH-induced increase in inflammation, excitotoxicity and oxidative stress. In conclusion, in immature rats, BAH reduced IVH-induced brain damage and prevented its long-term functional consequences, preserving normal myelination in a manner related to the modulation of inflammation, excitotoxicity and oxidative stress

Convención sobre los derechos de las personas con discapacidad. Adaptada para personas que utilizan Sistemas Pictográficos de Comunicación

Este documento es una adaptación en pictogramas de la Convención de la ONU sobre los Derechos de las personas con discapacidad, ratificada por España y que entró en vigor el 3 de mayo de 2008. Esta publicación, coordinada y realizada por el Ceapat-Imserso, en estrecha colaboración con el Portal Aragonés de la Comunicación Aumentativa y Alternativa (Arasaac) y Fundosa Accesibilidad, permitirá que las personas que usan Sistemas Pictográficos para comunicarse, puedan acceder, en igualdad de condiciones que todos los ciudadanos, al contenido de la Convención en un lenguaje adaptado a sus necesidades

Implementación y valoración de un curso piloto de formación permanente en Nutrición y Dietética para profesionales de Gastronomía

Depto. de Nutrición y Ciencia de los AlimentosFac. de FarmaciaFALSEsubmitte

No evidence of association between inherited thrombophilia and increased risk of liver fibrosis

Background: Preliminary evidence suggests that inherited hypercoagulable disorders can lead to an increased risk of significant liver fibrosis. Objective: We aimed to investigate the prevalence of significant fibrosis in patients with inherited thrombophilia, assessed by using liver stiffness (LS), and to compare this prevalence to that found in a large population-based cohort from the same region. Methods: This was a single-center, cross-sectional study. A complete laboratory analysis for liver disease, LS by transient elastography and an abdominal ultrasound were performed in patients with inherited thrombophilia diagnosed between May 2013-February 2017. These patients were propensity score matched (ratio 1:4) with a population-based cohort from the same region (PREVHEP-ETHON study; NCT02749864; N = 5988). Results: Of 241 patients with inherited thrombophilia, eight patients (3.3%) had significant fibrosis (LS ≥8kPa). All of them had risk factors for liver disease and met diagnostic criteria for different liver diseases. After matching 221 patients with thrombophilia with 884 patients of the PREVHEP-ETHON cohort, the prevalence of significant fibrosis was similar between both cohorts (1.8% vs. 3.6%, p = 0.488). Multivariate analysis showed that age and liver disease risk factors, but not belonging to the thrombophilia cohort, were associated with the presence of significant fibrosis. The magnitude of the increased risk of significant fibrosis in patients with risk factors for liver disease was also similar in both cohorts. Conclusions: Our findings do not provide evidence supporting an association between inherited thrombophilia and an increased risk of significant liver fibrosis, independent of the presence of liver-related causes of fibrosis.Asociacion Española para el estudio del Hígado, Grant/Award Number: Beca Juan Cordoba; Instituto de Salud Carlos III, Grant/ Award Number: PI20/0125

Alternative polyadenylation and salicylic acid modulate root responses to low nitrogen availability

Nitrogen (N) is probably the most important macronutrient and its scarcity limits plant growth, development and fitness. N starvation response has been largely studied by transcriptomic analyses, but little is known about the role of alternative polyadenylation (APA) in such response. In this work, we show that N starvation modifies poly(A) usage in a large number of transcripts, some of them mediated by FIP1, a component of the polyadenylation machinery. Interestingly, the number of mRNAs isoforms with poly(A) tags located in protein-coding regions or 5 '-UTRs significantly increases in response to N starvation. The set of genes affected by APA in response to N deficiency is enriched in N-metabolism, oxidation-reduction processes, response to stresses, and hormone responses, among others. A hormone profile analysis shows that the levels of salicylic acid (SA), a phytohormone that reduces nitrate accumulation and root growth, increase significantly upon N starvation. Meta-analyses of APA-affected and fip1-2-deregulated genes indicate a connection between the nitrogen starvation response and salicylic acid (SA) signaling. Genetic analyses show that SA may be important for preventing the overgrowth of the root system in low N environments. This work provides new insights on how plants interconnect different pathways, such as defense-related hormonal signaling and the regulation of genomic information by APA, to fine-tune the response to low N availability

Etnobotánica, aprovechamiento tradicional de plantas y patrimonio cultural como instrumento de innovación para el desarrollo sostenible

Memoria ID-0147. Ayudas de la Universidad de Salamanca para la innovación docente, curso 2017-2018

Percepción, valores y actitudes sobre el medio ambiente y el tratamiento de la problemática ambiental en los medios de comunicación

Memoria ID-0142. Ayudas de la Universidad de Salamanca para la innovación docente, curso 2014-2015

Los roles de género: del tratamiento de los contenidos a los procesos de evaluación

Memoria ID12-0073. Ayudas de la Universidad de Salamanca para la innovación docente, curso 2012-2013

Aproximación práctica, transversal e interdisciplinar a la tutela jurídica de la violencia de género: la simulación como método de aprendizaje

Memoria ID-0099. Ayudas de la Universidad de Salamanca para la innovación docente, curso 2016-2017