Interaction of HLA Class II rs9272219 and TMPO rs17028450 (Arg690Cys) Variants Affects Neuromyelitis Optica Spectrum Disorder Susceptibility in an Admixed Mexican Population.

Neuromyelitis Optica Spectrum Disorder (NMOSD) is a demyelinating autoimmune disease of the central nervous system, more prevalent in individuals of non-European ancestry. Few studies have analyzed genetic risk factors in NMOSD, and HLA class II gene variation has been associated NMOSD risk in various populations including Mexicans. Thymopoietin (TMPO) has not been tested as a candidate gene for NMOSD or other autoimmune disease, however, experimental evidence suggests this gene may be involved in negative selection of autoreactive T cells and autoimmunity. We thus investigated whether the missense TMPO variant rs17028450 (Arg630Cys, frequent in Latin America) is associated with NMOSD, and whether this variant shows an interaction with HLA-class II rs9272219, previously associated with NMOSD risk. A total of 119 Mexican NMOSD patients, 1208 controls and 357 Native Mexican individuals were included. The HLA rs9272219 "T" risk allele frequency ranged from 21 to 68%, while the rs17028450 "T" minor allele frequency was as high as 18% in Native Mexican groups. Both rs9272219 and rs17028450 were significantly associated with NMOSD risk under additive models (OR = 2.48; p = 8 × 10-10 and OR = 1.59; p = 0.0075, respectively), and a significant interaction between both variants was identified with logistic regression models (p = 0.048). Individuals bearing both risk alleles had an estimated 3.9-fold increased risk of NMOSD. To our knowledge, this is the first study reporting an association of TMPO gene variation with an autoimmune disorder and the interaction of specific susceptibility gene variants, that may contribute to the genetic architecture of NMOSD in admixed Latin American populations.

Genome-Wide Association Study Identifies a Functional SIDT2 Variant Associated With HDL-C (High-Density Lipoprotein Cholesterol) Levels and Premature Coronary Artery Disease.

Objective: Low HDL-C (high-density lipoprotein cholesterol) is the most frequent dyslipidemia in Mexicans, but few studies have examined the underlying genetic basis. Our purpose was to identify genetic variants associated with HDL-C levels and cardiovascular risk in the Mexican population. Approach and Results: A genome-wide association studies for HDL-C levels in 2335 Mexicans, identified four loci associated with genome-wide significance: CETP, ABCA1, LIPC, and SIDT2. The SIDT2 missense Val636Ile variant was associated with HDL-C levels and was replicated in 3 independent cohorts (P=5.9×10−18 in the conjoint analysis). The SIDT2/Val636Ile variant is more frequent in Native American and derived populations than in other ethnic groups. This variant was also associated with increased ApoA1 and glycerophospholipid serum levels, decreased LDL-C (low-density lipoprotein cholesterol) and ApoB levels, and a lower risk of premature CAD. Because SIDT2 was previously identified as a protein involved in sterol transport, we tested whether the SIDT2/Ile636 protein affected this function using an in vitro site-directed mutagenesis approach. The SIDT2/Ile636 protein showed increased uptake of the cholesterol analog dehydroergosterol, suggesting this variant affects function. Finally, liver transcriptome data from humans and the Hybrid Mouse Diversity Panel are consistent with the involvement of SIDT2 in lipid and lipoprotein metabolism. Conclusions: This is the first genome-wide association study for HDL-C levels seeking associations with coronary artery disease in the Mexican population. Our findings provide new insight into the genetic architecture of HDL-C and highlight SIDT2 as a new player in cholesterol and lipoprotein metabolism in humans.

Sistema de capacitación para el diseño de cursos virtuales utilizando Moodle 3. 0 / Training system for the design of virtual courses using Moodle 3. 0

RESUMEN Fundamento: capacitar los docentes para que impartan sus conocimientos empleando la educación a distancia permite la utilización racional y económica de los recursos, por lo que resulta necesario adiestrarlos en el uso de herramientas informáticas que les faciliten el diseño de cursos virtuales. Objetivo: implementar un sistema de capacitación para el diseño de cursos virtuales utilizando Moodle 3.0. Métodos: se realizó un prexperimento pedagógico en la Universidad de Ciencias Médicas de Villa Clara, en el período comprendido de enero 2016-diciembre 2018. Se emplearon métodos teóricos: análisis-síntesis, inducción-deducción e histórico-lógico; empíricos: encuesta en forma de cuestionario y entrevista no estructurada; y matemático-estadísticos para los valores absolutos y relativos. Resultados: se diagnosticaron insuficiencias de conocimientos entre los docentes relacionadas con la familiarización y diseño del curso virtual, declararon no tener las habilidades necesarias para interactuar con las herramientas de Moodle 3.0; aunque sí reconocieron que es una buena opción educativa y que favorece el aprendizaje en pregrado y posgrado, por lo que se elaboró un sistema de capacitación que fue valorado por criterio de especialistas. Conclusiones: fue estimado como factible de ser aplicado, pertinente, novedoso y está bien estructurado metodológicamente. Después de impartido, se comprobó su eficacia demostrada en mejores niveles de conocimientos en los docentes quienes diseñaron varios cursos virtuales utilizando Moodle 3.0.

ABSTRACT Background: training teachers to teach their knowledge using distance learning allows the rational and economic use of resources, so it is necessary to train them in the use of computing tools that facilitate the design of virtual courses. Objective: to implement a training system for the design of virtual courses using Moodle 3.0. Methods: a pedagogical pre-experiment was carried out at Villa Clara University of Medical Sciences, from January 2016 to December 2018. Theoretical methods were used: analysis-synthesis, induction-deduction and historical-logical; empirical: survey in the form of questionnaire and unstructured interview; and mathematical-statistical for absolute and relative values. Results: knowledge insufficiencies among teachers related to the familiarization and design of a virtual course were diagnosed, they declared not having the necessary skills to interact with the tools of Moodle 3.0; although they did recognize that it is a good educational option and that it favors undergraduate and postgraduate learning, so a training system was developed that was valued by specialists. Conclusions: it was estimated as feasible to be applied, relevant, novel and it´s well methodologically structured, by specialists. After its implementation it was proven its demonstrated effectiveness in better levels of knowledge in the teachers who designed several virtual courses using Moodle 3.0.

Demographic history and biologically relevant genetic variation of Native Mexicans inferred from whole-genome sequencing.

Understanding the genetic structure of Native American populations is important to clarify their diversity, demographic history, and to identify genetic factors relevant for biomedical traits. Here, we show a demographic history reconstruction from 12 Native American whole genomes belonging to six distinct ethnic groups representing the three main described genetic clusters of Mexico (Northern, Southern, and Maya). Effective population size estimates of all Native American groups remained below 2,000 individuals for up to 10,000 years ago. The proportion of missense variants predicted as damaging is higher for undescribed (~ 30%) than for previously reported variants (~ 15%). Several variants previously associated with biological traits are highly frequent in the Native American genomes. These findings suggest that the demographic and adaptive processes that occurred in these groups shaped their genetic architecture and could have implications in biological processes of the Native Americans and Mestizos of today.

A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation.

We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10(-8)) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion.

A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.

We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10(-8) to 3 × 10(-119)), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair.

A genome-wide association study identifies multiple loci for variation in human ear morphology.

Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 × 10(-8) to 3 × 10(-14)). Four traits are associated with a functional variant in the Ectodysplasin A receptor (EDAR) gene, a key regulator of embryonic skin appendage development. We confirm expression of Edar in the developing mouse ear and that Edar-deficient mice have an abnormally shaped pinna. Two traits are associated with SNPs in a region overlapping the T-Box Protein 15 (TBX15) gene, a major determinant of mouse skeletal development. Strongest association in this region is observed for SNP rs17023457 located in an evolutionarily conserved binding site for the transcription factor Cartilage paired-class homeoprotein 1 (CART1), and we confirm that rs17023457 alters in vitro binding of CART1.

Human genetics. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits.

Mexico harbors great cultural and ethnic diversity, yet fine-scale patterns of human genome-wide variation from this region remain largely uncharacterized. We studied genomic variation within Mexico from over 1000 individuals representing 20 indigenous and 11 mestizo populations. We found striking genetic stratification among indigenous populations within Mexico at varying degrees of geographic isolation. Some groups were as differentiated as Europeans are from East Asians. Pre-Columbian genetic substructure is recapitulated in the indigenous ancestry of admixed mestizo individuals across the country. Furthermore, two independently phenotyped cohorts of Mexicans and Mexican Americans showed a significant association between subcontinental ancestry and lung function. Thus, accounting for fine-scale ancestry patterns is critical for medical and population genetic studies within Mexico, in Mexican-descent populations, and likely in many other populations worldwide.

Cursos de reanimación cardiopulmonar básicos para padres de recién nacidos y lactantes / Basic cardiopulmonary resuscitation courses for parents of newborns and infants

Los cursos de reanimación cardiopulmonar (RCP), cumplen todas las definiciones de una actividad educativa dirigida hacia la prevención, por parte de los padres, de la muerte por paro cardiorrespiratorio de pacientes de riesgo y/o población general. Su finalidad es principalmente la de mejorar el cuidado hogareño de los pacientes y brindar confianza antes del alta de los sectores de internación, sobre todo de cuidados intensivos. En la actualidad, forman parte del protocolo de alta de muchos servicios de neonatología, aunque hay propuestas que superan este objetivo y se extienden a otras áreas, tales como los distintos ámbitos educativos y cuidadores. A nivel local, se destaca la experiencia del grupo de RCP neonatal de la Sociedad Argentina de Pediatría en sus funciones de dictado regular de cursos a grupos familiares de pacientes de alto riesgo, así como también en la creación y difusión de contenidos.

Cardiopulmonary resuscitation (CPR) courses meet all the definitions of an educational activity for prevention of cardiac arrest death by risk patients' parents and/or the general population. The aim is to improve patients ́ home care and turn parents confident before their children are discharged from hospital, mainly from intensive care units. Currently these courses are part of discharge protocols in many neonatologist services although there are offers that exceed this target, and extend to other areas such as education and caregivers. Locally the experience of neonatal CPR at the Sociedad Argentina de Pediatría stands out in connection with delivering courses to high risk patients ́ parents as well as designing and spreading learning material

[Basic cardiopulmonary resuscitation courses for parents of newborns and infants]. / Cursos de reanimación cardiopulmonar básicos para padres de recién nacidos y lactantes.

Cardiopulmonary resuscitation (CPR) courses meet all the definitions of an educational activity for prevention of cardiac arrest death by risk patients' parents and/or the general population. The aim is to improve patients' home care and turn parents confident before their children are discharged from hospital, mainly from intensive care units. Currently these courses are part of discharge protocols in many neonatologist services although there are offers that exceed this target, and extend to other areas such as education and caregivers. Locally the experience of neonatal CPR at the Sociedad Argentina de Pediatría stands out in connection with delivering courses to high risk patients' parents as well as designing and spreading learning material.

Factores que influyen en los cursistas para lograr el diseño de sus cursos virtuales / Factors that influence upon the course students to prepare the design of their virtua

Fundamento: la Universidad Virtual de Salud es una entidad académica que se encarga de la superación y capacitación de los profesionales y técnicos de la salud. Objetivo: identificar los factores que influyen en los cursistas para lograr el diseño de sus cursos en el Aula Virtual de Salud. Métodos: se realizó una investigación con enfoque cualitativo, transversal, en la Universidad de Ciencias Médicas de Villa Clara, de marzo de 2012 a junio 2013, la que transcurrió en tres etapas: exploratoria, identificación de los factores y valoración por especialistas. Se emplearon métodos del nivel teórico: histórico-lógico y analítico-sintético; del nivel empírico: el análisis documental, la observación, el cuestionario, la entrevista y la triangulación metodológica de la información, y para identificar los factores se convocó a un grupo focal con siete especialistas sobre el tema. Resultados: se determinó que entre los principales factores que influyen en los cursistas para lograr el diseño de cursos virtuales se encuentra la no intervención de la administración para la selección de temas, por no contar con una política para la implementación del Modelo de Aprendizaje en Red; aunque se manifiesta aceptación por la modalidad y el deseo a continuar participando, se evidencia temor a dañar los elementos publicados en la plataforma, inseguridad para navegar, el rechazo a la administración e inseguridad para impartir cursos, entre otros. Conclusiones: se identificaron 19 factores que influyen en los cursitas para lograr el diseño de sus cursos; estos son de tipos: gerenciales, didácticos curriculares y de actitud(AU)

Factores que influyen en los cursistas para lograr el diseño de sus cursos virtuales / Factors that influence upon the course students to prepare the design of their virtual courses

Fundamento: la Universidad Vi rtual de Salud es una entidad académica que se encarga de la superación y capacitación de los profesionales y técnicos de la salud. Objetivo: identificar los factores que influyen en los cursistas para lograr el diseño de sus cursos en el Aula Virtual de Salud. Métodos: se realizó una investigación con enfoque cualitativo, transversal, en la Universidad de Ciencias Médicas de Villa Clara, de marzo de 2012 a junio 2013, la que transcurrió en tres etapas: exploratoria, identificación de los factores y valoración por especialistas. Se emplearon métodos del nivel teórico: histórico-lógico y analítico-sintético; del nivel empírico: el análisis documental, la observación, el cuestionario, la entrevista y la triangulación metodológica de la información, y para identificar los factores se convocó a un grupo focal con siete especialistas sobre el tema. Resultados: se determinó que entre los principales factores que influyen en los cursistas para lograr el diseño de cursos virtuales se encuentra la no intervención de la administración para la selección de temas, por no contar con una política para la implementación del Modelo de Aprendizaje en Red; aunque se manifiesta aceptación por la modalidad y el deseo a continuar participando, se evidencia temor a dañar los elementos publicados en la plataforma, inseguridad para navegar, el rechazo a la administración e inseguridad para impartir cursos, entre otros. Conclusiones: se identificaron 19 factores que influyen en los cursitas para lograr el diseño de sus cursos; estos son de tipos: gerenciales, didácticos curriculares y de actitud.

Background: the Health Virtual University is an academic entity responsible for the improvement and training of professionals and health technicians. Objective: to identify the factors that influence on the course members to achieve course designs for the Virtual Classroom. Methods: a qualitative and cross-sectional study was conducted at the University of Medical Sciences of Villa Clara, from March 2012 to June 2013 which was developed in three stages: exploratory stage, identification of factors stage, and the specialists assessment stage. From the theoretical level, the historical-logical and the analytic-synthetic methods were used; from the empirical level, the documentary analysis, observation, questionnaire, interview and methodological triangulation of information. Once the factors were identified a focus group was invited composed of seven specialists in the field. Results: among the main factors that were determined have influences on the course members to achieve the design of online courses are: nonintervention of the administration for selecting the topics, for not having a policy for the implementation of the Network Learning Model. It is evident the acceptance of this modality, the desire to continue participating, and also fear of damaging the items posted on the platform, the insecurity to browse, the rejection to the administration and lack of confidence to teach courses. Conclusions: the 19 factors that influence on course members to achieve course designs for the virtual classroom, were identified; these are the management type factors, the didactic curricular ones and of attitude.

Cursos de reanimación cardiopulmonar básicos para padres de recién nacidos y lactantes. / [Basic cardiopulmonary resuscitation courses for parents of newborns and infants].

Cardiopulmonary resuscitation (CPR) courses meet all the definitions of an educational activity for prevention of cardiac arrest death by risk patients parents and/or the general population. The aim is to improve patients home care and turn parents confident before their children are discharged from hospital, mainly from intensive care units. Currently these courses are part of discharge protocols in many neonatologist services although there are offers that exceed this target, and extend to other areas such as education and caregivers. Locally the experience of neonatal CPR at the Sociedad Argentina de Pediatría stands out in connection with delivering courses to high risk patients parents as well as designing and spreading learning material.

Papel de la investigación en la formación de recursos humanos de la carrera de Medicina / The role of research for the training of human resources in medical undergraduate studies

En medio de un mundo globalizado la universidad médica tiene la misión de transformar la sociedad a través de la formación de sus profesionales, lo cual constituye la columna vertebral del subsistema científico-tecnológico de cada país, así como su formación en la investigación y la extensión; su reto social es buscar alternativas que contribuyan a perfeccionar la organización social y lograr una mejor adaptación a los cambios que se avecinan. La investigación como parte de la formación de los profesionales de la salud ayuda a mejorar el estudio porque permite establecer contacto con la realidad, constituye un estímulo para la actividad intelectual creadora y desarrolla una curiosidad creciente acerca de la solución de problemas; por todo ello este estudio tiene como propósito argumentar el papel relevante de la investigación en la formación de recursos humanos en la carrera de Medicina y su relación con la sociedad desde sus distintos procesos.

In the midst of a globalized world, the medical university has the mission of transforming society through the training of its professionals, which constitutes the backbone of the scientific-technological subsystem of each country, as well as their training in research and extension. Its social challenge is to find alternatives to help enhance social organization and a better adaptation to the changes ahead. Research, as part of the training of health professionals, helps improve learning because it allows contact with reality, is a stimulus to creative intellectual activity and develops a growing curiosity about solving problems. Therefore, this study aims to show the important role of research for the training of human resources in medical undergraduate studies and its relationship to society from its various processes.

Papel de la investigación en la formación de recursos humanos de la carrera de Medicina / The role of research for the training of human resources in medical undergraduate studies

En medio de un mundo globalizado la universidad médica tiene la misión de transformar la sociedad a través de la formación de sus profesionales, lo cual constituye la columna vertebral del subsistema científico-tecnológico de cada país, así como su formación en la investigación y la extensión; su reto social es buscar alternativas que contribuyan a perfeccionar la organización social y lograr una mejor adaptación a los cambios que se avecinan. La investigación como parte de la formación de los profesionales de la salud ayuda a mejorar el estudio porque permite establecer contacto con la realidad, constituye un estímulo para la actividad intelectual creadora y desarrolla una curiosidad creciente acerca de la solución de problemas; por todo ello este estudio tiene como propósito argumentar el papel relevante de la investigación en la formación de recursos humanos en la carrera de Medicina y su relación con la sociedad desde sus distintos procesos(AU)