“Análisis de los procesos de enseñanza y el aprendizaje del inglés en las personas adultas mayores costarricenses, para ofrecer orientaciones que -desde la gerontología educativa- puedan fortalecer la propuesta didáctica de los programas donde se imparten.”

El desarrollo de una Gerontología Educativa en Costa Rica ha recorrido un largo camino. Poco a poco, se ha procurado establecer cimientos fuertes, que la construyan de forma sólida. Sin embargo, es mucho el sendero por recorrer aún. La tendencia actual si bien, ha despertado y transmitido voz a esas almas se inclina por la “sensibilización” de los participantes y, junto a la idiosincrasia costarricense, se tiende a pensar en otros con cierto grado de compasión. Se llama a la población a abrir “campitos en sus corazones” hacia las personas pertenecientes a esta etapa generacional. Ante el futuro certero hacia el que todos los humanos se dirigen, no basta con evocar el altruismo: es necesario crear conciencia. En ese despertar reflexivo, la educación se torna en agente de cambio y le entrega a la persona su propia formación en busca de la justicia, la libertad y la emancipación. Esto se debe brindar a los adultos mayores: una educación, en la que sean partícipes activos, en donde sus voces sean percibidas, respetadas y se conviertan en los insumos para su desarrollo. Empoderando sus manos, se puede construir esa transformación social tan necesaria.Universidad Estatal a Distancia de Costa Ric

Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1

Genotype-to-phenotype correlation studies in myotonic dystrophy type 1 (DM1) have been confounded by the age-dependent, tissue-specific and expansion-biased features of somatic mosaicism of the expanded CTG repeat. Previously, we showed that by controlling for the confounding effects of somatic instability to estimate the progenitor allele CTG length in blood DNA, age at onset correlations could be significantly improved. To determine the suitability of saliva DNA as a source for genotyping, we used small pool-PCR to perform a detailed quantitative study of the somatic mutational dynamics of the CTG repeat in saliva and blood DNA from 40 DM1 patients. Notably, the modal allele length in saliva was only moderately higher in saliva and not as large as previously observed in most other tissues. The lower boundary of the allele distribution was also slightly higher in saliva than it was in blood DNA. However, the progenitor allele length estimated in blood explained more of the variation in age at onset than that estimated from saliva. Interestingly, although the modal allele length was slightly higher in saliva, the overall degree of somatic variation was typically lower than in blood DNA, revealing new insights into the tissue-specific dynamics of somatic mosaicism. These data indicate that saliva constitutes an accessible, non-invasive and suitable DNA sample source for performing genetic studies in DM1.Universidad de Costa Rica/[]/UCR/Costa RicaUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA

Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset

In myotonic dystrophy type 1 (DM1), somatic mosaicism of the (CTG)n repeat expansion is age-dependent, tissue-specific and expansion-biased. These features contribute toward variation in disease severity and confound genotype-to-phenotype analyses. To investigate how the (CTG)n repeat expansion changes over time, we collected three longitudinal blood DNA samples separated by 8–15 years and used small pool and single-molecule PCR in 43 DM1 patients. We used the lower boundary of the allele length distribution as the best estimate for the inherited progenitor allele length (ePAL), which is itself the best predictor of disease severity. Although in most patients the lower boundary of the allele length distribution was conserved over time, in many this estimate also increased with age, suggesting samples for research studies and clinical trials should be obtained as early as possible. As expected, the modal allele length increased over time, driven primarily by ePAL, age-at-sampling and the time interval. As expected, small expansions <100 repeats did not expand as rapidly as larger alleles. However, the rate of expansion of very large alleles was not obviously proportionally higher. This may, at least in part, be a result of the allele length-dependent increase in large contractions that we also observed. We also determined that individual-specific variation in the increase of modal allele length over time not accounted for by ePAL, age-at-sampling and time was inversely associated with individual-specific variation in age-at-onset not accounted for by ePAL, further highlighting somatic expansion as a therapeutic target in DM1.Muscular Dystrophy Association/[MDA200568]/MDA/Estados UnidosMinisterio de Ciencia, Tecnología y Telecomunicaciones/[]/MICITT/Costa RicaConsejo Nacional para Investigaciones Científicas y Tecnológicas/[]/CONICIT/Costa RicaUniversidad de Costa Rica/[]/UCR/Costa RicaUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA

A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients

Somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 is age-dependent, tissuespecific and expansion-biased, contributing toward the tissue-specificity and progressive nature of the symptoms. Previously, using regression modelling of repeat instability we showed that variation in the rate of somatic expansion in blood DNA contributes toward variation in age of onset, directly implicating somatic expansion in the disease pathway. Here, we confirm these results using a larger more genetically homogenous Costa Rican DM1 cohort (p < 0.001). Interestingly, we also provide evidence that supports subtle sex-dependent differences in repeat length-dependent age at onset and somatic mutational dynamics. Previously, we demonstrated that variation in the rate of somatic expansion was a heritable quantitative trait. Given the important role that DNA mismatch repair genes play in mediating expansions in mouse models, we tested for modifier gene effects with 13 DNA mismatch gene polymorphisms (one each in MSH2, PMS2, MSH6 and MLH1; and nine in MSH3). After correcting for allele length and age effects, we identified three polymorphisms in MSH3 that were associated with variation in somatic instability: Rs26279 (p = 0.003); Rs1677658 (p = 0.009); and Rs10168 (p = 0.031). However, only the association with Rs26279 remained significant after multiple testing correction. Although we revealed a statistically significant association between Rs26279 and somatic instability, we did not detect an association with the age at onset. Individuals with the A/A genotype for Rs26279 tended to show a greater propensity to expand the CTG repeat than other genotypes. Interestingly, this SNP results in an amino acid change in the critical ATPase domain of MSH3 and is potentially functionally dimorphic. These data suggest that MSH3 is a key player in generating somatic variation in DM1 patients and further highlight MSH3 as a potential therapeutic target.UCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA)UCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Centro de Investigación en Neurociencias (CIN)UCR::Vicerrectoría de Docencia::Salud::Facultad de Medicina::Escuela de Nutrició

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1

Artículo científico -- Universidad de Costa Rica. Instituto de Investigaciones en Salud e Instituto de Investigaciones Psicológicas, 2015. Por políticas de la revista en la que el artículo fue publicado, no es posible descargar la versión del editor/PDF; no obstante, se facilita el URL original donde el documento fue publicado.Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat (g.17294_17296(45_1000)) with more repeats associated with increased disease severity and reduced age at onset. Expanded disease-associated alleles are highly unstable in both the germline and soma. Germline instability is expansion biased, providing a molecular explanation for anticipation. Somatic instability is expansion biased, size- and age-dependent, features that have compromised genotype-phenotype correlations and intergenerational studies. We corrected these confounding factors by estimating the progenitor allele length in 54 father-offspring and 52 mother-offspring pairs in Costa Rican DM1 families. Not surprisingly, we found major parental allele length effects on the size of the allele transmitted, the magnitude of the intergenerational length change, the age at onset in the next generation and the degree of anticipation in both male and female transmissions. We also detected, for the first time, an age-of-parent effect for both male and female transmission. Interestingly, we found no evidence for an intrauterine effect in the transmission of congenital DM1, suggesting previous reports may have been an artefact of age-dependent somatic instability and sampling bias. These data provide new insights into the germline dynamics of the CTG repeat and opportunities for providing additional advice and more accurate risk assessments to prospective parents in DM1 families.Universidad de Costa Rica. Instituto de Investigaciones en SaludUniversidad de Costa Rica. Instituto de Investigaciones PsicológicasUniversidad de Costa Rica, Centro de Investigaciones en NeurocienciasUniversidad de Costa Rica, Escuela de MedicinaUniversidad de Costa Rica, Escuela de NutriciónLaboratorio de Neurofisiología (Neurolab)Hospital Nacional de Niños, Servicio de NeurologíaHospital San Juan de Dios, Servicio de NeurologíaUCR::Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA

Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent

Myotonic dystrophy type 1 (DM1) is a complex disease with a wide spectrum of symptoms. The exact relationship between mutant CTG repeat expansion size and clinical outcome remains unclear. DM1 congenital patients (CDM) inherit the largest expanded alleles, which are associated with abnormal and increased DNA methylation f lanking the CTG repeat. However, DNA methylation at the DMPK locus remains understudied. Its relationship to DM1 clinical subtypes, expansion size and age-at-onset is not yet completely understood. Using pyrosequencing-based methylation analysis on 225 blood DNA samples from Costa Rican DM1 patients, we determined that the size of the estimated progenitor allele length (ePAL) is not only a good discriminator between CDM and non-CDM cases (with an estimated threshold at 653 CTG repeats), but also for all DM1 clinical subtypes. Secondly, increased methylation at both CTCF sites upstream and downstream of the expansion was almost exclusively present in CDM cases. Thirdly, levels of abnormal methylation were associated with clinical subtype, age and ePAL, with strong correlations between these variables. Fourthly, both ePAL and the intergenerational expansion size were significantly associated with methylation status. Finally, methylation status was associated with ePAL and maternal inheritance, with almost exclusively maternal transmission of CDM. In conclusion, increased DNA methylation at the CTCF sites f lanking the DM1 expansion could be linked to ePAL, and both increased methylation and the ePAL could be considered biomarkers for the CDM phenotype.Muscular Dystrophy Association/[MDA200568]/MDA/Estados UnidosUniversidad de Costa Rica/[742-A8-306]/UCR/Costa RicaNational Cancer Institute/[P30 CA016672]/NCI/Estados UnidosUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA

Educar en derechos humanos : un espacio para el juego

Proyecto Aula Activa: Juegos Cooperativos para la educación para la paz Guía didáctica Colección: Jugando para la paz Material didáctico gratuito Editora Evelyn Cerdas AgüeroEsta guía didáctica titulada “Educar en derechos humanos un espacio para el juego” forma parte del proyecto Aula activa: juegos educativos para la educación para la paz del Instituto de Estudios Latinoamericanos (IDELA). Este proyecto busca fomentar en el estudiantado un proceso de cambio en la aprehensión y vivencia de los derechos humanos de manera que logren reconstruir actitudes, aprender valores y desarrollar habilidades susceptibles de ejercitarse en su interacción diaria, por medio de conductas y actitudes coherentes con el respeto de los derechos humanos y la construcción de una cultura de paz. En este participan estudiantes del curso Espacios Lúdicos para la Educación en Derechos Humanos del Instituto de Estudios Latinoamericanos. Autores: Chacón Campos Stephanie González Camacho Ana Lucía Loría Cubillo Marco Oconitrillo Arce Yuliana Quesada Sancho Fabiola Adrián Barrantes Aguilar Karina Díaz Monge Edith Jiménez Venegas Valeria Moya Pereira Nicolás Salas Ruíz Ericka Sánchez Morera Raúl Hidalgo Perez Stephen Mekbel Ashley Pereira Mónica Cordero Ramírez Jennifer Matarrita Corrales Pamela Brenes Navarro Elvira Mena Brenes Daniela Murillo Orozco Susan Solano Monge Francisco Suarez Pérez Carlos González Leandro Priscilla López Rojas. Carolina Montero Iyara Vargas Lobo Evelyn Figueroa Elizondo Anne Hübner Jacqueline Valencia González Miriam Lizbeth Velázquez Ávila Valerie Calderón Jennifer Campos Jessica Ochoa Monserrath Navarro Ericka Lewis Carolina Rojas Jazmín Arroyo Calderón Melany Arroyo Calderón Mónica Brenes Luna María Sofía Haug Cordero María José Redondo Ríos Ayleen Cascante Zúñiga Marta Azofeifa Matamoros Melanie Guillén Miranda Scarleth Luca Brenes David Valverde Murillo María Castro Arce Natalia Chacón Muñoz Hazel Campos Hernández María José Garita Barahona Raquel González Hernández Laura Ramos Solórzano Gisselle Porras Víquez Pedro ChaverríThis didactic guide entitled "Educating in human rights, a space for play" is part of the project Active Classroom: educational games for peace education of the Institute of Latin American Studies (IDELA). This project seeks to foster in students a process of change in the understanding and experience of human rights so that they can rebuild attitudes, learn values and develop skills that can be exercised in their daily interaction, through behaviors and attitudes consistent with respect for human rights and the construction of a culture of peace. Students from the course Playful Spaces for Human Rights Education of the Institute of Latin American Studies participate in this one. Authors: Chacón Campos Stephanie González Camacho Ana Lucía Loría Cubillo Marco Oconitrillo Arce Yuliana Quesada Sancho Fabiola Adrian Barrantes Aguilar Karina Díaz Monge Edith Jimenez Venegas Valeria Moya Pereira Nicolás Salas Ruíz Ericka Sánchez Morera Raúl Hidalgo Perez Stephen Mekbel Ashley Pereira Mónica Cordero Ramírez Jennifer Matarrita Corrales Pamela Brenes Navarro Elvira Mena Brenes Daniela Murillo Orozco Susan Solano Monge Francisco Suarez Perez Carlos González Leandro Priscilla Lopez Rojas Carolina Montero Iyara Vargas Lobo Evelyn Figueroa Elizondo Anne Hübner Jacqueline Valencia González Miriam Lizbeth Velázquez Ávila Valerie Calderon Jennifer Campos Jessica Ochoa Monserrath Navarro Ericka Lewis Carolina Rojas Jazmin Arroyo Calderon Melany Arroyo Calderon Mónica Brenes Luna María Sofía Haug Cordero María José Redondo Ríos Ayleen Cascante Zúñiga Marta Azofeifa Matamoros Melanie Guillén Miranda Scarleth Luca Brenes David Valverde Murillo María Castro Arce Natalia Chacón Muñoz Hazel Campos Hernández María José Garita Barahona Raquel González Hernández Laura Ramos Solórzano Gisselle Porras Víquez Pedro ChaverríInstituto de Estudios Latinoamericano