Exploración bioinformática de características estructurales y funcionales de genes asociados a enfermedades raras.

Objective: Rare diseases have been related to rare variants with a high penetrance for many genes, however, these genes that cause rare diseases are not necessarily rare genes, because they are related to several essential pathways for cells, and in many cases are common for rare and common diseases. Consequently, it is possible to propose that the genes causing rare diseases could be related to fundamental processes or critical regions in the human genome. In this study, we explore the genes causing rare diseases based on a description of their structure and function for the identification of critical functional processes and a gene regulatory context for their association with specific diseases that can be explored. Materials and methods: The genes causing rare diseases, extracted from the ORPHANET and OMIM database, were explored to identify if there is any similarity within their structural and functional characteristics. In addition, a systematic review of the literature is carried out in order to capture the most relevant diseases found in the bioinformatic analysis. Results: Here we report that the genes that cause rare diseases are related to fundamental cellular processes, whose genes are found in genomic regions with a high density of repeats. Our data show metabolism, disease and cellular processes, as the most frequent categories associated with genes causing rare diseases, which include critical pathways for cell viability such as glycosaminoglycan degradation, primary immunodeficiency or cell junctions. Conclusions: Our results establish a general description of the basic structural characteristics of genes related to rare diseases, in addition to establishing key processes that describe rare diseases in cellular contexts common to other diseases, these processes being important for future explorations.Objetivo: Las enfermedades raras se han relacionado con variantes raras con una alta penetrancia para muchos genes, sin embargo, estos genes que causan enfermedades raras no son necesariamente genes raros, debido a que están relacionados con varias vías esenciales para las células, y en muchos casos son comunes para enfermedades raras y frecuentes. En consecuencia, es posible proponer que los genes causantes de enfermedades raras podrían estar relacionados con procesos fundamentales o regiones críticas en el genoma humano. En este estudio, exploramos los genes causantes de enfermedades raras basados en una descripción de su estructura y función  para la identificación de procesos funcionales críticos y un contexto regulador de genes para su asociación con enfermedades específicas que puedan ser exploradas. Materiales y métodos: Se exploraron los genes causantes de enfermedades raras, extraídos desde la base de datos de ORPHANET y OMIM, para identificar si existe dentro de sus características estructurales y funcionales alguna similitud. Además, se realiza una revisión sistematizada de la literatura con el fin de plasmar las enfermedades más relevantes encontradas en el análisis bioinformático. Resultados: Aquí informamos que los genes que causan enfermedades raras están relacionados con procesos celulares fundamentales, cuyos genes se encuentran en regiones genómicas con una alta densidad de repeticiones. Nuestros datos muestran el metabolismo, la enfermedad y los procesos celulares, como las categorías más frecuentes asociadas a genes causantes de enfermedades raras, que incluyen vías críticas para la viabilidad celular como la degradación de glicosaminoglicanos, inmunodeficiencia primaria o uniones celulares. Conclusiones: Nuestros resultados establecen una descripción general de las características estructurales básicas de los genes relacionados con enfermedades raras, además se establecen procesos clave que describen enfermedades raras en contextos celulares comunes a otras enfermedades, siendo estos procesos importantes para futuras exploraciones

The Caldera. No. 26

“La PALABRA tiene PODER”, más allá del lema que nos convocó en la décima versión del Concurso Inter colegiado de Oratoria, que en el marco de ULIBRO 2023, se llevó a cabo en NEOMUNDO, el 1 de septiembre pasado, esta frase es una profunda convicción que ha movido al Área de Lengua Castellana del Instituto Caldas, a propiciar y mantener este espacio en el que nuestros estudiantes son los protagonistas. Este año, al tratarse de una celebración especial, quisimos que el tema fundamental fuera el inmenso PODER que tiene la PALABRA; la palabra que construye, que transforma, que edifica, que fortalece, que acompaña, que “abriga”, a diario, al ser humano; en un mundo en el que se debe volver a entender y vivenciar, en el hogar, en la escuela, en la sociedad, el poder transformador de vocablos tan importantes como lo son: “Familia, Educación, Vida, Diversidad, Respeto, Literatura, Escritura, Creatividad, Lectura, Inclusión, Paz, Igualdad Social, Democracia, Ciudadanía y Diálogo”, la palabra cobró fuerza en las voces de nuestros educandos; de esta manera, analizar estos temas tiene que ver necesariamente con los “Futuros posibles”, que planteó la Gran Feria del Libro, ULIBRO, en su vigésima primera versión, para que sigamos trabajando por una sociedad mejor, razón de ser de todas las instituciones educativas del mundo entero.“The WORD has POWER”, beyond the motto that summoned us in the tenth version of the Intercollegiate Oratory Contest, which within the framework of ULIBRO 2023, was held in NEOMUNDO, last September 1, this phrase is a deep conviction that has moved the Spanish Language Area of ​​the Caldas Institute to promote and maintain this space in which our students are the protagonists. This year, as it is a special celebration, we wanted the fundamental theme to be the immense POWER that the WORD has; the word that builds, that transforms, that edifies, that strengthens, that accompanies, that “shelters”, daily, the human being; in a world in which we must understand and experience again, at home, at school, in society, the transformative power of words as important as: “Family, Education, Life, Diversity, Respect, Literature, Writing, Creativity, Reading, Inclusion, Peace, Social Equality, Democracy, Citizenship and Dialogue”, the word gained strength in the voices of our students; In this way, analyzing these issues necessarily has to do with the “Possible Futures”, which the Great Book Fair, ULIBRO, proposed in its twenty-first version, so that we continue working for a better society, the reason for being of all institutions. . educational institutions around the world.Modalidad Presencia

Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1*04:07, and intermediary with HLA-DRB1*04:01 and HLA-DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues

Tres mujeres : una historia, un duelo y un sueño

Una mujer cuya vida se basa en atender a su familia, dedicarse al hogar, cocinar, limpiar, amar y proteger decide realizar sus sueños profesionales en fotografías. Pasará todo un día siendo lo que siempre quiso ser y reflexionará si luego de aquel ejercicio querrá hacerlo en la realidad o no. Su cotidianidad, sus deseos y sus historias, se harán ver en las fotografías ¿Cambiará algo en su vida? ¿Podrá realizar sus sueños? ¿Decidirá seguir siendo un ama de casa? Posiblemente el ejercicio la toque emocionalmente y se pregunte por su realidad

A place of dispute : capitals and habitus in the constitution of the Colombian communist camp (1947-1986)

La presente investigación tiene por objetivo analizar de forma relacional los capitales y los habitus en torno a los cuales se constituyó el campo comunista colombiano entre 1947 y 1986. Siendo así, se parte de la hipótesis de que dicha constitución se basó en dos elementos fundamentales: un capital basado en el uso teórico del marxismo leninismo y un habitus compuesto por un lenguaje particular, instituido por el Partido Comunista Colombiano y compartido por sus militantes. De acuerdo con ello, el trabajo se divide en tres capítulo. Primero, se realiza una breve exposición del contexto dentro del cual se constituyó el campo comunista colombiano. Segundo, se identifican los capitales fundamentales del campo comunista colombiano a partir de dos figuras representativas del PCC. Tercero y último, se da cuenta de los habitus que determinaron la relación de los miembros del PCC con el mundo social. A modo de conclusión se establece la relación entre los capitales y habitus particulares que se construyeron al interior del campo comunista colombiano entre 1947 y 1986 y se mencionan algunos conflictos y cambios identificados al interior de este.The objective of this research is to analyze in a relational way the capitals and habitus around which the Colombian communist camp was constituted between 1947 and 1986. Thus, we start from the hypothesis that this constitution was based on two fundamental elements: a capital based on the theoretical use of Marxism-Leninism and a habitus composed of a particular language, instituted by the Colombian Communist Party and shared by its militants. Accordingly, the work is divided into three chapters. First, a brief exposition of the context within which the Colombian communist camp was constituted. Second, the fundamental capitals of the Colombian communist camp are identified based on two representative figures of the PCC. Thirdly and finally, the habitus that determined the relationship of the members of the PCC with the social world is described. By way of conclusion, the relationship between the particular capitals and habitus that were built within the Colombian communist camp between 1947 and 1986 is established and some conflicts and changes identified within it are mentioned.Historiador (a)Politólogo (a)Pregrad

Caracterización fisicoquímica de la sal sódica y potásica del poli (ácido-maléico-atl-octadeceno) con diferentes porcentajes de ionización en medio acuoso.

En este proyecto se realizó la caracterización fisicoquímica de la sal sódica y potásica del poli(ácido-maléico-alt-octadeceno) con diferentes grados de ionización en medio acuoso. Inicialmente, se evaluó el efecto de la concentración sobre la turbidez generada en los sistemas acuosos a partir de ensayos de transmitancia y con esto, se definió una concentración óptima de trabajo de 1 mg/mL. Posteriormente, se evaluó el efecto del tiempo sobre diversas variables fisicoquímicas, tales como el pH y la conductividad mediante estudios potenciométricos, además del potencial Z, el tamaño de partícula y la polidispersidad de tamaño por medio de estudios de dispersión de luz dinámica. Los resultados muestran que con el paso del tiempo, los sistemas tienden a disminuir el pH y el potencial Z, mientras que el tamaño de partícula y la polidispersidad de tamaño aumentan, sugiriendo que el estado termodinámico de dichos sistemas tiende a la agregación interpolimérica

Videojuego inclusivo para la evaluación cognitiva de niños sordos

The application of gamification to solve day to day tasks is becoming more common, thanks to the enriching way it motivates people to complete an activity that by other “normal” means they would find boring or tedious. The need to take advantage of this multimedia tool is the reason why projects like Visor are born in the first place. Visor takes the concept of videogame as a method to evaluate the kids who play it. The first project of Visor developed in the University of San Buenaventura Cali to evaluate both deaf and hearing children, gave birth to Visor 2.0, a game that keeps the original narrative and evaluative concepts of the previous version but now with more cemented concepts of production seem from the perspective of the Engineering faculty. Visor 2.0 proposes new usability approaches that focus on deaf children, improving the accessibility the game provides to this community so these children may have fun while the tool evaluates their performance, which is later analyzed by experts and professionals. This process is known as the Embedded Psychometric Tool. This degree project presents the investigation, preparation, elaboration and evaluation of a videogame for the inclusion of deaf children and how with the help of the Psychology faculty we managed to build a tool that could fit the necessities of both the children who would play the game and the Professionals who would analyze data obtained from it.La aplicación de la gamificación para resolver tareas del día a día cada vez se vuelve más común, por ser una forma didáctica en la que se motiva a las personas a realizar una actividad que por métodos “normales” parece aburridora o tediosa. El querer aprovechar esta herramienta multimedia es la razón por la que nacen proyectos como Visor. Visor toma el concepto de videojuego como un método para la evaluación de los niños que lo juegan. El primer proyecto de Visor desarrollado en la Universidad San Buenaventura C15ali para la evaluación de niños sordos y oyentes dio paso a Visor 2.0, un juego que mantiene los conceptos narrativos y evaluativos de la versión anterior, pero esta vez con conceptos de producción mejor cementados y argumentados por parte de la facultad de Ingeniería. Visor 2.0 propone nuevos planteamientos para la usabilidad enfocada en los niños sordos mejorando de esta forma la accesibilidad que le brinde el juego a esta comunidad, así los niños podrán divertirse mientras que la herramienta hace una evaluación de su desempeño para luego ser analizada por expertos y profesionales; este proceso es conocido como la herramienta psicométrica embebida. Este proyecto presenta la investigación, preparación, elaboración y evaluación de un videojuego diseñado para la inclusión de niños sordos y cómo con la ayuda de la facultad de psicología se logró construir una herramienta que cumpliera con las necesidades tanto de los niños que juegan como los profesionales que analizan los datos obtenidos de este

Different factors limit early- and late-season windows of opportunity for monarch development.

Seasonal windows of opportunity are intervals within a year that provide improved prospects for growth, survival, or reproduction. However, few studies have sufficient temporal resolution to examine how multiple factors combine to constrain the seasonal timing and extent of developmental opportunities. Here, we document seasonal changes in milkweed (Asclepias fascicularis)-monarch (Danaus plexippus) interactions with high resolution throughout the last three breeding seasons prior to a precipitous single-year decline in the western monarch population. Our results show early- and late-season windows of opportunity for monarch recruitment that were constrained by different combinations of factors. Early-season windows of opportunity were characterized by high egg densities and low survival on a select subset of host plants, consistent with the hypothesis that early-spring migrant female monarchs select earlier-emerging plants to balance a seasonal trade-off between increasing host plant quantity and decreasing host plant quality. Late-season windows of opportunity were coincident with the initiation of host plant senescence, and caterpillar success was negatively correlated with heatwave exposure, consistent with the hypothesis that late-season windows were constrained by plant defense traits and thermal stress. Throughout this study, climatic and microclimatic variations played a foundational role in the timing and success of monarch developmental windows by affecting bottom-up, top-down, and abiotic limitations. More exposed microclimates were associated with higher developmental success during cooler conditions, and more shaded microclimates were associated with higher developmental success during warmer conditions, suggesting that habitat heterogeneity could buffer the effects of climatic variation. Together, these findings show an important dimension of seasonal change in milkweed-monarch interactions and illustrate how different biotic and abiotic factors can limit the developmental success of monarchs across the breeding season. These results also suggest the potential for seasonal sequences of favorable or unfavorable conditions across the breeding range to strongly affect monarch population dynamics

Different factors limit early‐ and late‐season windows of opportunity for monarch development

Abstract Seasonal windows of opportunity are intervals within a year that provide improved prospects for growth, survival, or reproduction. However, few studies have sufficient temporal resolution to examine how multiple factors combine to constrain the seasonal timing and extent of developmental opportunities. Here, we document seasonal changes in milkweed (Asclepias fascicularis)–monarch (Danaus plexippus) interactions with high resolution throughout the last three breeding seasons prior to a precipitous single‐year decline in the western monarch population. Our results show early‐ and late‐season windows of opportunity for monarch recruitment that were constrained by different combinations of factors. Early‐season windows of opportunity were characterized by high egg densities and low survival on a select subset of host plants, consistent with the hypothesis that early‐spring migrant female monarchs select earlier‐emerging plants to balance a seasonal trade‐off between increasing host plant quantity and decreasing host plant quality. Late‐season windows of opportunity were coincident with the initiation of host plant senescence, and caterpillar success was negatively correlated with heatwave exposure, consistent with the hypothesis that late‐season windows were constrained by plant defense traits and thermal stress. Throughout this study, climatic and microclimatic variations played a foundational role in the timing and success of monarch developmental windows by affecting bottom‐up, top‐down, and abiotic limitations. More exposed microclimates were associated with higher developmental success during cooler conditions, and more shaded microclimates were associated with higher developmental success during warmer conditions, suggesting that habitat heterogeneity could buffer the effects of climatic variation. Together, these findings show an important dimension of seasonal change in milkweed–monarch interactions and illustrate how different biotic and abiotic factors can limit the developmental success of monarchs across the breeding season. These results also suggest the potential for seasonal sequences of favorable or unfavorable conditions across the breeding range to strongly affect monarch population dynamics