CNVs in the 22q11.2 chromosomal region should be an early suspect in infants with congenital cardiac disease

Q2Background: Congenital heart disease (CHD) is the most common congenital malformation, it is frequently found as an isolated defect, and the etiology is not completely understood. Although most of the cases have multifactorial causes, they can also be secondary to chromosomal abnormalities, monogenic diseases, microduplications or microdeletions, among others. Copy number variations (CNVs) at 22q11.2 are associated with a variety of symptoms including CHD, thymic aplasia, and developmental and behavioral manifestations. We tested CNVs in the 22q11.2 chromosomal region by MLPA in a cohort of Colombian patients with isolated CHD to establish the frequency of these CNVs in the cohort. Methods: CNVs analysis of 22q11.2 by MLPA were performed in 32 patients with apparently isolate CHD during the neonatal period. Participants were enrolled from different hospitals in Bogotá, and they underwent a clinical assessment by a cardiologist and a clinical geneticist. Results: CNVs in the 22q11.2 chromosomal region were found in 7 patients (21.9%). The typical deletion was found in 6 patients (18.75%) and atypical 1.5 Mb duplication was found in 1 patient (3.1%). Conclusions: CNVs in 22q11.2 is a common finding in patients presenting with isolated congenital cardiac disease, therefore these patients should be tested early despite the absence of other clinical manifestations. MLPA is a very useful molecular method and provides an accurate diagnosis.Revista Internacional - Indexad

Síndrome de Raynaud

ResumenEsta entidad de variable frecuencia en la población general, adquiere mayor relevancia dentro de las enfermedades del tejido conectivo puede ser causa importante de morbilidad. Su presentación es de amplio espectro y aunque se han descrito factores que influyen en su fisiopatología no se ha dicho la última palabra. En este artículo se revisan estos aspectos y se presentan las herramientas disponibles actualmente para su diagnóstico y manejo.[MedUNAB 2002;5(13):35-43].Palabras clave: Síndrome de Raynaud, vasoespasmo

Determinación de las relaciones genéticas en 24 accesiones de frijol común (phaseolus vulgaris)

Se caracterizaron 24 accesiones de Phaseolus vulgaris L., de las cuales 21 son de origen andino y tres mesoamericanas. Dentro de los materiales andinos, se incluyeron variedades mejoradas y cultivariedades regionales, procedentes de diversas zonas agroecológicas de Colombia. Para la  caracterización, se utilizaron 22 sistemas isoenzimáticos, ocho de los cuales mostraron buena resolución y fueron seleccionados como marcadores bioquímicos del estudio. Seis enzimas revelaron polimorfismos: Esterasa (EST), Malato deshidrogenasa (MOH), Oeshidrogenasa Shikimica (SKOH),Rubisco (RBCS), Isocitrato deshidrogenasa (IOH), y Glutamato deshidrogenasa (GOH). Las enzimas: Transaminasa glutámica oxalacética (GOT) y Endopeptidasa (EP) fueron monomórficas para todas las accesiones estudiadas. El polimorfismo se evidenció a través de 17 loci que codificaron para un mínimo de 34 alelos diferentes. Las enzimas IOH y GOHse reportan por primera vez en el fríjol común. Para establecer las relaciones entre los grupos, se usó la distancia de Jaccard y el algoritmo de agrupación UPGMA. El dendrograma obtenido conjugó dos grupos divididos en cinco subgrupos. Los grupos principales se separaron en primera instancia por el centro de domesticación: el mesoamericano y el andino, como era de esperarse. Los tres testigos mesoamericanos fueron separados del resto en un subgrupo. Las poblaciones andinas colombianas, en las cuales se centró la importancia de este estudio, fueron divididas en cuatro subgrupos que no discriminaron, en forma marcada las variedades mejoradas de las cultivariedades regionales. Los subgrupos se analizaron y discutieron de acuerdo con sus genealogías, orígenes geográficos y lugares de adaptación, más que por sus características morfológicas.Twenty four collections of common bean, 21 from Andean origin and three from Central America were characterized, using biochemical markers. Eight out of 22 isozyme systems showed good resolution. Six enzymes were polymorphic: Esterase (EST), Malate dehydrogenase (MOH), Shikimatedehydrogenase (SKOH), Rubisco (RBCS), Isocitrate dehydrogenase (IOH), and Glutamate dehydrogenase (GOH). Two other two enzymes, Glutamate oxalacetate transminase (GOT) for all accessions and Endopeptidase (EP), were monomorphic. A total of 17 loci were detected with at least 34alleles. The enzymes IOH and GOH are reported the first time for the species. To define the relationships among the accessions, the Jaccard distance and the UPGMA procedures were used. The dendogram displayed two maingroups andfive subgroups. The clusters were associated with the centers of speciess domestication : Mesoamerica and the Andes,as itwasexpected.The relationships among the subgroups were analyzed and discussed accordingto the geographical origin, sites of adaptation and lineage, rather than to their morphological similarities

Mapping Colombian Caribbean and Pacific bottom seascapes and marine ecosystems

Colombia is recognized as a mega diverse country on the basis of the number of terrestrial animal and plant species occurring within its boundaries (Williams 1997). However, its privileged coasts position on both Caribbean Sea and Pacific Ocean exhibiting distinct geological, oceanographic, and climatic features could perhaps rank the country within the highest marine biological diversity in South America and among the most biodiverse in the world. An inventory of the full variety of physical bottom types or seascapes map of Colombian territorial waters was produced as a response to provide basis to assess how marine protected areas may well capture marine habitats and thus biodiversity. This map is part of a National initiative to generate an official 1:500.000 scale map where terrestrial, marine and coastal natural ecosystems are all shown. It was made using existing data which are recognized as varying in quality and spatial coverage and have problems with compatibility between data sets. Mapping approach is based on a benthic marine classification system conditions using enduring physiographic and recurrent oceanographic features that are known to affect distribution of communities and their component organisms. Seascapes classification system and the methods used were reviewed at expert workshops. Seascape modeling bases on a digital depth model using ground true points obtained from various time and scale bathymetric charts. Data for the benthic realms are assembled and classified in an ecologically meaningful way and then combined (overlaid) to derive bottom seascapes maps. Each benthic seascape is uniquely defined by the combination of bottom geomorphology, sediment types and oceanic climate values or ranges. Throughout expert knowledge undersea features were identified using slope maps, isoclines and 3D visual analysis. Sediment types were obtained from the digitalization and generalization of sedimentary facies charts. Ocean climate was classified using physical and chemical oceanographic records from the World Ocean Atlas 2001. Coastal line, mangrove and coastal lagoons extent was obtained by visual interpretation, region segmentation and unsupervised classification using 3, 4, and 5 bands of Landsat 7 ETM+ dataset. Available ecosystem level information on reef areas and sea grasses was generalized and superimposed to the generated seascapes. A newly set for discussion regionalization of Colombian underwater territory, ranges from Realms, Provinces, Ecozones to Ecorregions and encompass a total of 155 seascapes extending 532.200 km2 of the Caribbean Sea and 360.510 km2 of the Pacific Ocean. Seascapes distribute up to a maximum of 4990 meters depth. Distinctive features of the Caribbean include the Colombia Basin covering 210.000 km2 Magdalena Fan covering an area of about 24.400 km2 in close relation to the river delta. Extensive coral reefs top the mountainous seascapes of the Tayrona Ridge Ecozone NE of the Mesoamerican platform. Malpelo Ridge and Pacific Rise are distinctive features over the Pacific Basin. The Colombia trench, running parallel along the coast is a characteristically very deep and asymmetrical depression of the Pacific sea floor. Upcoming work is pointing to seascape accuracy evaluation and verification. This map serves as a basis for future management proposals, conservation plans and sustainable management planning. (Document has 27 slides

SMART (Shop floor Modeling, Analysis and Reporting Tool Project

This document presents summarizes the design and prototype of the Shop floor Modeling, Analysis, and Reporting Tool (S.M.A.R.T.) A detailed description of it is found on the full documentation given to the NASA liaison. This documentation is also found on the A.R.I.S.E. Center web site, under a projected directory. Only authorized users can gain access to this site

Patent Human Infections with the Whipworm, Trichuris trichiura, Are Not Associated with Alterations in the Faecal Microbiota

Background: The soil-transmitted helminth (STH), Trichuris trichiura colonises the human large intestine where it may modify inflammatory responses, an effect possibly mediated through alterations in the intestinal microbiota. We hypothesised that patent T. trichiura infections would be associated with altered faecal microbiota and that anthelmintic treatment would induce a microbiota resembling more closely that observed in uninfected individuals. Materials and Methods: School children in Ecuador were screened for STH infections and allocated to 3 groups: uninfected, T. trichiura only, and mixed infections with T. trichiura and Ascaris lumbricoides. A sample of uninfected children and those with T. trichiura infections only were given anthelmintic treatment. Bacterial community profiles in faecal samples were studied by 454 pyrosequencing of 16 S rRNA genes. Results: Microbiota analyses of faeces were done for 97 children: 30 were uninfected, 17 were infected with T. trichiura, and 50 with T. trichiura and A. lumbricoides. Post-treatment samples were analyzed for 14 children initially infected with T. trichiura alone and for 21 uninfected children. Treatment resulted in 100% cure of STH infections. Comparisons of the microbiota at different taxonomic levels showed no statistically significant differences in composition between uninfected children and those with T. trichiura infections. We observed a decreased proportional abundance of a few bacterial genera from the Clostridia class of Firmicutes and a reduced bacterial diversity among children with mixed infections compared to the other two groups, indicating a possible specific effect of A. lumbricoides infection. Anthelmintic treatment of children with T. trichiura did not alter faecal microbiota composition. Discussion: Our data indicate that patent human infections with T. trichiura may have no effect on faecal microbiota but that A. lumbricoides colonisation might be associated with a disturbed microbiota. Our results also catalogue the microbiota of rural Ecuadorians and indicate differences with individuals from more urban industrialised societies

Caracterización de bacterias halófilas aisladas de un cultivo a cielo abierto tipo raceway de espirulina

Los microorganismos halófilos tienen su origen en los tres dominios de la vida: Archea, Bacteria y Eucarya. Con el objetivo de caracterizar morfológica y molecularmente 6 cepas bacterias halófilas aisladas de un cultivo a cielo abierto en sistema “raceway” de espirulina, se realizó una prueba fisiológica para definir el rango de salinidad en el que las cepas bacterianas presentan crecimiento, éstas se inocularon en agar nutritivo a diferentes porcentajes de NaCl, en intervalos de 5, desde 5 hasta 20%. Además, se les aplicó la tinción de Gram y las pruebas bioquímicas de catalasa y oxidasa. El análisis molecular constó del aislamiento de DNA genómico y mediante la PCR se amplificó y secuenció la región del 16S DNAr. Las secuencias obtenidas se analizaron con el algoritmo del BLAST del NCBI. La comparación de las secuencias de las cepas estudiadas, así como los datos morfológicos y bioquímicos mostraron que pertenecen a los géneros: Bacillus, Halomonas y Pseudomonas.The halophilic microorganisms have their origin in the three domains of life: Archea, Bacteria and Eucarya. Due to the fact of characterize morphologically and molecularly six strains of halophilic bacteria isolated from an open sky growing in a race-way system of spirulina. A physiological test was made to define the range of salinity where the bacterial strains demonstrate growth; these were inoculated in nutritive agar in different percentages of NaCl in intervals of 5, from 5 to 20%. Also, a Gram’s dying process was applied as well as catalase and oxidase biochemical tests were made. The molecular analysis was about isolating genomic DNA, the 16s DNAr was amplified by PCR. The sequences gotten were analyzed with the BLAST in the database NCBI. The comparison between the sequence of strains studied as well as the morphological and biochemical data showed that these belong to the gender of Bacillus, Halomonas and Pseudomonas

EFECTO DE LA REFRIGERACIÓN SOBRE LA MOTILIDAD, INTEGRIDAD DE MEMBRANA ACROSOMAL Y REACCIÓN ACROSOMAL EN ESPERMATOZOIDES CANINOS

Métodos de preservación de espermatozoides mediante la refrigeración o el congelamiento han sido desarrollados para espermatozoides caninos; sin embargo, la tasa de fecundación artificial es baja, posiblemente por daños celulares aún no determinados. El objetivo de este estudio fue evaluar el efecto de la refrigeración sobre la motilidad, actividad mitocondrial, integridad de membrana acrosomal y reacción acrosomal en espermatozoides caninos incubados en tres medios distintos (Ferp Talp, CCMm, Sp Talp), utilizando nuevas metodologías (Mito Tracker, Lyso Tracker, SBTI). Los resultados indicaron una disminución significativa (p<0.05) en la motilidad, viabilidad e integridad del acrosoma en espermatozoides refrigerados en comparación con los frescos; así como una dinámica de reacción diferente en espermatozoides refrigerados respecto a los frescos. Por otra parte, los medios Sp Talp y CCMm dieron mejores resultados en mantenimiento de la motilidad, actividad mitocondrial e integridad de membrana acrosomal.Preservation methods of spermatozoa using refrigeration have been developed for canine sperm; however, the rate of fertilization is still low, possibly due to cell damage for unknown reasons. The objective of this study was to evaluate the effect of refrigeration upon motility, mitochondrial activity, acrosomal membrane integrity, and acrosomal reaction in dog sperm incubated in three culture media (Ferp Talp, CCMm, Sp Talp) using new methodologies (Mito Tracker, Lyso Tracker, SBTI). The results indicated that exist a significant decrease (p<0.05) in motility, mitochondrial activity, and acrosomal membrane integrity in refrigerated sperm in comparison with fresh sperm. Also, the dynamic of acrosomal reaction was different in refrigerated sperm in comparison with fresh sperm. The Sp Talp and CCMm media showed the best results in holding the mitochondrial activity and acrosomal membrane integrity

Percepción sobre COVID-19 y actitud hacia las medidas de protección en México

Objetivo. El objetivo de este estudio fue contrastar la percepción sobre COVID-19 y la actitud hacia las medidas de protección en México con las variables sociodemográficas y personales para conocer el comportamiento de la enfermedad. Método. Se realizó un estudio transversal del 18-31 de mayo de 2020 con muestreo no probabilístico por conveniencia con una muestra de 969 personas. Se empleó estadística descriptiva, análisis factorial exploratorio, pruebas U de Mann-Whitney y Kruskal-Wallis. Resultados. Los resultados mostraron diferencias significativas de la actitud hacia las medidas de protección a favor de la edad de 60 y más, sexo-mujer, género-femenino, escolaridad-doctorado, ocupación-jubilado y región-norte. Se encontró también diferencia significativa entre la percepción sobre el COVID-19 con la edad-60 y más, ocupación-jubilado, religión-creyente en Dios con filiación religiosa y región-norte. Conclusiones. La percepción sobre COVID-19 y la actitud hacia las medidas de protección es diferente en cada segmento de la población y un cambio de comportamiento individual o colectivo es importante para evitar en un futuro los estragos que México y otros países del mundo vivieron ante el COVID-19

En red-damos: Tejiendo experiencias de transformación educativa

28 páginasEste libro nace de las experiencias de docentes de diferentes niveles educativos, quienes realizan aportes a la comprensión y aplicación de diversos medios didácticos para el favorecimiento del aprendizaje en sus estudiantes. En este contexto, se busca que los principales lectores sean colegas docentes de latitudes y contextos variados, pero con similar entusiasmo por intervenir en su ejercicio pedagógico.Primera edició