Carácterización clínica e histológica de los pacientes con diagnóstico de epidermolisis ampollar congénita y adquirida en Colombia

La epidermólisis ampollar (EA) es una alteración genética heredada o de Novo en genes que codifican para microestructuras que mantienen la adhesión a diferentes niveles de la membrana basal de la piel. Esto se traduce clínicamente en epitelios extremadamente frágiles incapaces de unirse a la dermis, y en la aparición de heridas crónicas que alteran significativamente la calidad de vida y el pronóstico del portador de dicha entidad. Objetivo: Caracterizar clínica e histológicamente los pacientes con diagnóstico de EA congénita y adquirida en Colombia, pertenecientes a la fundación DEBRA Colombia durante el periodo de Enero del 2009 a Agosto del 2014. Materiales y métodos: Es un estudio observacional descriptivo retrospectivo, en el cual se incluyeron los pacientes actualmente vivos asociados a DEBRA Colombia desde Enero del 2009. Se realizó una revisión exhaustiva de todas las historias clínicas disponibles en DEBRA Colombia (Bogotá) para la obtención de los datos. Resultados: De las 56 personas afiliadas se seleccionaron 45 historias clínicas. Veinticuatro correspondían a mujeres y 21 a hombres. Se encontró una predominancia de la variante distrófica en la muestra. Tan solo 24 pacientes contaban con un registro de biopsia y de ellos solo 3 habían sido diagnosticados con microscopía electrónica o Microscopía Óptica de Alta Resolución. Las comorbilidades en esta población resultaron ser un poco diferentes de las reportadas en literatura internacional.Abstract. Epidermolysis Bullosa (EB) is an inherited or “de novo” genetic alteration in the genes coding for structures in charge of keeping adherence at different leves of the skin’s basal membrane. This is translated in an extremely fragile epithelium, unable to adhere to the dermis, and the presence of chronic wounds that significantly compromise the carrier’s quality of life and life prognosis. Objective: clinical and histologic characterization of the patients diagnosed with inherited and acquired EB in Colombia that belong to DEBRA Colombia, during the lapse between January 2009 and August 2014. Materials and Methods: observational, retrospective, descriptive study, including all the currently alive patients that are signed with DEBRA Colombia since January 2009. A complete review of all medical records available in DEBRA Colombia was performed to obtain the data. Results: Of all 56 patients signed, 45 medical records were selected. Twenty four were women and 21 were men. The dystrophic variant was the most common. Only 24 patients had a biopsy result and only 3 of them had been diagnosed with electron microscopy or high resolution optical microscopy. Comorbidities in this population turned out to be slightly different from those reported in the international literature.Otr

Síndrome Multisistémico Inflamatorio Pediátrico temporalmente asociado a SARS-CoV-2: un nuevo reto a la luz de la evidencia.

In children, the course of COVID-19 is benign due to their low susceptibility compared to those of adults, although it is not clear why most children are asymptomatic; in addition to the presence of a new condition, similar to Kawasaki disease. The objective of this research is to present a systematic review with the existing information on the Pediatric Multisystemic Inflammatory Syndrome temporarily associated with SARS-CoV-2 in an organized way. For this, the main medical search engines on the Internet were used. Based on strict selection criteria, we seek to clarify whether it is necessary to unify diagnostic criteria, classification, and management for this new nosological entity, which allows the implementation of adapted protocols considering that a number of children with PIMS-TS improve with medical attention, others worsen rapidly, endangering their lives, it is suggested that SARS-CoV-2 is an immunomodulatory factor, which can be modified by environmental factors, related to the etiological agent as well. The most widely used complementary tests are echocardiography, hemogram, inflammation markers, myocardial damage markers and CRP and serology for SARS-CoV-2. The multifaceted nature of the disease warrants multi-specialized management in highly complex medical centers, considering the individuality of the cases. Treatment, in-hospital evolution, and follow-up will depend on the casesEn los niños el curso de la COVID-19 es benigno por su baja susceptibilidad comparados con adultos, aunque no está claro por qué la mayoría son asintomáticos; además de la presencia de una nueva afección, similar a la Enfermedad de Kawasaki. El objetivo de esta investigación fue presentar de forma organizada, una revisión sistemática con la información existente sobre el Síndrome Multisistémico Inflamatorio Pediátrico temporalmente asociado a SARS-CoV-2. Para ello se utilizaron los principales buscadores médicos de internet; basados en criterios de selección estrictos se buscó aclarar la interrogante: ¿Es necesario la unificación de criterios diagnósticos, clasificación y manejo para esta nueva entidad nosológica, que permita la implementación de protocolos adaptados a la luz de la evidencia existente? Muchos niños con PIMS-TS, mejoran con atención médica, otros empeoran rápidamente peligrando su vida, se sugiere que SARS-CoV-2 es un factor inmunomodulador, pudiendo ser modificado por factores ambientales y relacionados al agente etiológico. Las pruebas complementarias más empleadas son : ecocardiografía, hemograma, marcadores de inflamación, marcadores de daño miocárdico y PCR y serología para el SARS-CoV-2. La naturaleza multifacética de la enfermedad amerita un manejo multiespecializado en centros médicos de alta complejidad, considerando la individualidad de los casos. El tratamiento, evolución intrahospitalaria y seguimiento dependerá de los casos

Automation of functional annotation of genomes and transcriptomes

Functional annotation represents a means to investigate and classify genes and transcripts according to their function within a given organism.This paper presents Massive Automatic Functional Annotation (MAFA - Web), which is an online free bioinformatics tool that allows automation, unification and optimization of functional annotation processes when dealing with large volumes of sequences. MAFA includes tools for categorization and statistical analysis of associations between sequences. We have evaluated the performance of MAFA with a set of data taken from Diploria-Strigosatranscriptome (using an 8-core computer, namely E7450 @ 2,40GHZ with 256GB RAM), processing rates of 2,7 seconds per sequence (using Uniprot database) and 50,0 seconds per sequence (using Non-redundant from NCBI database) were found together with particular RAM usage patterns that depend on the database being processed (1GB for Uniprot database and 9GB for Non-redundant database).. Aviability: https://github.com/BioinfUD/MAFA. Functional annotation represents a means to investigate and classify genes and transcripts according to their function within a given organism.This paper presents Massive Automatic Functional Annotation (MAFA - Web), which is an online free bioinformatics tool that allows automation, unification and optimization of functional annotation processes when dealing with large volumes of sequences. MAFA includes tools for categorization and statistical analysis of associations between sequences. We have evaluated the performance of MAFA with a set of data taken from Diploria-Strigosatranscriptome (using an 8-core computer, namely E7450 @ 2,40GHZ with 256GB RAM), processing rates of 2,7 seconds per sequence (using Uniprot database) and 50,0 seconds per sequence (using Non-redundant from NCBI database) were found together with particular RAM usage patterns that depend on the database being processed (1GB for Uniprot database and 9GB for Non-redundant database). Aviability: https://github.com/BioinfUD/MAFA.

Implementación de Servicios Integrados Participativos de Clima para la Agricultura (PICSA) en el TESAC – El Tuma La Dalia Nicaragua

Este documento presenta la implementación de la “Guía Detallada sobre el uso de PICSA con agricultores”, articulada a los procesos ya desarrollados en el TeSAC de La Tuma - La Dalia en Nicaragua. Se realiza una síntesis de las actividades, resultados, y lecciones aprendidas, generando así la ruta para la generación de servicios integrados participativos de clima en los proceso de adaptación, en el contexto rural de Nicaragua. PICSA se implementó en 2017 - 2018 con 30 familias en las comunidades Wasaka Abajo y Aguas Amarillas en el departamento de Matagalpa. El CATIE junto a diversos socios de la región han trabajado y desarrollado evidencias de las bondades y algunas limitaciones que representa la metodología de escuelas de campo. De manera más reciente el uso del enfoque para escuelas de campo multirubro y multitemáticas con el objetivo de trabajar de manera más integral las demandas, necesidades de conocimientos y experiencias prácticas de familias rurales. Sin embargo, en el contexto de variabilidad climática, resulta sumamente relevante la introducción de PICSA en el marco de planificación y toma de decisiones de las familias rurales y con ello, la necesidad de acceder y usar información climática. No se pretende establecer como premisa que la aplicación de PICSA está condicionada a procesos ECAs pero, se destaca como un elemento ideal que su aplicación este inserta en procesos de aprendizaje activos con familias que permitan dar sostenibilidad a su aplicación.This document presents the implementation of the "Work Guide on the use of PICSA with farmers", articulated in the processes already developed in the climate-smart village (CSV) of La Tuma - La Dalia in Nicaragua. A synthesis of the activities, the results, and the lessons learned is generated, thus generating the route for the generation of integrated services in the adaptation process, in the rural context of Nicaragua. PICSA was implemented in 2017 - 2018 with 30 families in the Wasaka Abajo and Aguas Amarillas communities in the department of Matagalpa. CATIE and the various partners of the region have worked and developed evidence of the bonds and some limitations that represent the methodology of the field schools. More recently the use of multi-site and multi-thematic field schools with the aim of working in a more comprehensive manner the demands, the needs of knowledge and the experiences of rural families. However, in the context of climate variability, the importance of introducing PICSA within the planning and decision-making framework of rural families and with it, the need to access and use climate information. It is not intended to establish as a premise that the application of PICSA is conditioned to the ECAs processes, but stands out as an ideal element that its application is inserted in active learning processes with families that will give the opportunity of its application

Origen parental, estado de no disyunción y recombinación meiótica del cromosoma 21 extra en el síndrome de Down: estudio en una muestra de población colombiana

Introduction. Free trisomy 21 is responsible for 95% of Down syndrome cases. Advanced maternal age and susceptible recombination patterns are recognized risk factors associated to Down syndrome. Maternal origin of trisomy occurs in approximately 90% of cases; paternal and mitotic origin share the remaining 10%. However, the recombination events that serve as a risk factors for trisomy 21 have not been carefully characterized. Objective. To analyze and validate observations in a sample of Colombian trysonomy 21 cases.Materials and methods. Twenty-two Colombian families were selected, each with one affected Down syndrome (free trisomy 21) child. Microsatellite polymorphisms were used as DNA markers to determine the parental/stage origin of non-disjunction and recombination events. Nonparametric tests were used to compare our results with those reported. Multiple correspondence analysis was used to outline different groups and their associations.Results. Distribution of trisomy 21 was 90.9% maternal, 4.5% paternal and 4.5% from mitotic origin, similar to distributions reported previously. However, we found differences in the frequency of maternal meiotic stage errors between the present study (46.1% meiosis I and 53.9% meiosis II) compared to those reported previously (70% meiosis I and 30% meiosis II). Multiple correspondence analyses showed association of either local recombination events or absence of recombination with specific non-disjunction stages.Conclusions. Recombination patterns found in this study support the hypothesis that susceptible chiasmate configurations are associated to maternal meiosis I and meiosis II errors. Nondisjunction frequencies between maternal meiotic stages need to be clarified in our population.Introducción. La trisomía 21 libre es responsable del 95% de los casos de síndrome de Down. La edad materna y la recombinación son los principales factores de riesgo asociados con la concepción de estos individuos. El origen materno de la trisomía ocurre en el 90% de los casos, mientras que los casos de origen paterno y mitótico comparten un 10%. Por otra parte, la recombinación como factor de riesgo para la trisomía 21 no ha sido comprobada completamente.Objetivo. Analizar y validar estas observaciones en una muestra colombiana de casos con trisomía 21 libre.Materiales y métodos. Se estudiaron 22 afectados con síndrome de Down (trisomía libre) y sus respectivos padres. Se usaron marcadores microsatélites de ADN para determinar el origen en los progenitores, el estado de no disyunción y los eventos de recombinación. Por medio de pruebas no paramétricas se compararon los resultados con los reportados en la literatura. Se realizó análisis de correspondencias múltiples para reconocer los diferentes grupos y sus asociaciones.Resultados. La distribución de la trisomía 21 fue 90,9% materna, 4,5% paterna y 4,5% mitótica, similar a las reportadas previamente. Sin embargo, existen diferencias en la frecuencia de errores del estado meiótico para origen materno (46,1% meiosis I y 53,9% meiosis II) comparada con la de los reportados previamente (70% meiosis I y 30% meiosis II). El análisis de correspondencias múltiples mostró asociación entre eventos de recombinación local y ausencia de recombinación con estados de no disyunción específicos.Conclusiones. Las configuraciones quiasmáticas susceptibles están asociadas de manera específica a errores en la meiosis I y la meiosis II materna. Es necesario clasificar la frecuencia de no disyunción en estados meióticos maternos en nuestra población

Inmunidad conferida por la vacunación antiaftosa en los bovinos del Urabá Antioqueño.

Se determinaron los niveles de anticuerpos neutralizantes de la población bovina del área de Urabá, Antioquia, con base al muestreo serológico realizado en noviembre de 1977, correspondiente a 90 días post-vacunación. De los 320 bovinos menores de dos años 145 (45.31 por ciento) estaban protegidos frente al virus A-8046 y 90 (28.12 por ciento) lo estaban frente al virus O1-7250. Para los bovinos mayores de dos años, de los 306 utilizados, se observó que 205 (67 por ciento) estaban protegidos frente al virus A27-8046 y 117 (38.56 por ciento) frente al virus O1-7250. Al comparar las diferencias del porcentaje de protegidos entre ambos grupos de edad, por análisis de chi-cuadrado, se encontró que fueron altamente significativos frente al virus A27-8046 (P menor que 0.001) y significativos frente al virus O1-7250 (P menor que 0.01)Ganado de leche-Ganadería lech

Seed germination of four amaranth species (Amaranthus spp.)

Amaranth (Amarantus spp.) is an important species for its benefits in human and animal nutrition, therefore, the reproduction of these species is important, supported by rigorous experiments that generate quality information. Consequently, the present work aimed to determine the germination of 20 accessions of four species of Amaranthus spp. This was carried out at the Technological Institute of Chiná, Campeche, Mexico, with seeds donated by The North Central Regional Plant Introduction Station (NCRPIS), Iowa State University, from Africa, Asia, Greece, South America, USA, and Mexico. The seeds were weighed and measured, then they were sown in Petri dishes and kept in a germination chamber at 27 ºC and a relative humidity of 54 % in the dark, every 24 hours the germinated seeds were counted and removed. The analyzes were performed using the ANOVA test to identify differences in weight, length and germination between accessions. The results did not show statistical differences in seed length, between species or between accessions, with respect to weight if there were statistical differences both between species and between accessions. The results showed that A. hypochondriacus from India had the highest weight (0.00093 ± 0.000075 g). Germination did obtain statistical differences in the different evaluation times, at 24 and 48 hours, where the highest germination was in the species A. hypochondriacus and A cruentus. Therefore, it is concluded that seed germination is different in each species and accession.Amaranthus (Amaranthus spp.) is a species of great importance that benefits human and animal nutrition; therefore, its reproduction must be based on useful information obtained from rigorous experiments. Consequently, the aim of this work was to determine the germination of 20 accessions from four Amaranthus spp. The work was carried out at the Instituto Tecnológico de Chiná, Campeche, Mexico, using seeds from Africa, Asia, Greece, South America, the US, and Mexico, donated by The North Central Regional Plant Introduction Station (NCRPIS), Iowa State University. After they were weighed and measured, the seeds were placed in Petri dishes and kept in the dark inside a germination chamber, at 27 ºC and with a 54% relative humidity. Germinated seeds were counted and removed every 24 hours. The analyses were carried out using the ANOVA test in order to identify weight, length, and germination differences between accessions. The results showed no statistical differences in seed length, neither between species nor accessions; however, there were statistical differences in the weight, both between species and between accessions. A. hypochondriacus from India recorded the highest weight (0.00093 ± 0.000075 g). Regarding germination, there were statistical differences between the various evaluation periods (24 and 48 hours): the highest germination was recorded by A. hypochondriacus and A cruentus. Therefore, the following conclusion was reached: seed germination is different between species and accessions

Pan-Cancer Analysis of lncRNA Regulation Supports Their Targeting of Cancer Genes in Each Tumor Context

Long noncoding RNAs (lncRNAs) are commonly dys-regulated in tumors, but only a handful are known toplay pathophysiological roles in cancer. We inferredlncRNAs that dysregulate cancer pathways, onco-genes, and tumor suppressors (cancer genes) bymodeling their effects on the activity of transcriptionfactors, RNA-binding proteins, and microRNAs in5,185 TCGA tumors and 1,019 ENCODE assays.Our predictions included hundreds of candidateonco- and tumor-suppressor lncRNAs (cancerlncRNAs) whose somatic alterations account for thedysregulation of dozens of cancer genes and path-ways in each of 14 tumor contexts. To demonstrateproof of concept, we showed that perturbations tar-geting OIP5-AS1 (an inferred tumor suppressor) andTUG1 and WT1-AS (inferred onco-lncRNAs) dysre-gulated cancer genes and altered proliferation ofbreast and gynecologic cancer cells. Our analysis in-dicates that, although most lncRNAs are dysregu-lated in a tumor-specific manner, some, includingOIP5-AS1, TUG1, NEAT1, MEG3, and TSIX, synergis-tically dysregulate cancer pathways in multiple tumorcontexts

Pan-cancer Alterations of the MYC Oncogene and Its Proximal Network across the Cancer Genome Atlas

Although theMYConcogene has been implicated incancer, a systematic assessment of alterations ofMYC, related transcription factors, and co-regulatoryproteins, forming the proximal MYC network (PMN),across human cancers is lacking. Using computa-tional approaches, we define genomic and proteo-mic features associated with MYC and the PMNacross the 33 cancers of The Cancer Genome Atlas.Pan-cancer, 28% of all samples had at least one ofthe MYC paralogs amplified. In contrast, the MYCantagonists MGA and MNT were the most frequentlymutated or deleted members, proposing a roleas tumor suppressors.MYCalterations were mutu-ally exclusive withPIK3CA,PTEN,APC,orBRAFalterations, suggesting that MYC is a distinct onco-genic driver. Expression analysis revealed MYC-associated pathways in tumor subtypes, such asimmune response and growth factor signaling; chro-matin, translation, and DNA replication/repair wereconserved pan-cancer. This analysis reveals insightsinto MYC biology and is a reference for biomarkersand therapeutics for cancers with alterations ofMYC or the PMN

Genomic, Pathway Network, and Immunologic Features Distinguishing Squamous Carcinomas

This integrated, multiplatform PanCancer Atlas study co-mapped and identified distinguishing molecular features of squamous cell carcinomas (SCCs) from five sites associated with smokin