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1.
Nucleic Acids Res ; 52(D1): D891-D899, 2024 Jan 05.
Article in English | MEDLINE | ID: mdl-37953337

ABSTRACT

Ensembl (https://www.ensembl.org) is a freely available genomic resource that has produced high-quality annotations, tools, and services for vertebrates and model organisms for more than two decades. In recent years, there has been a dramatic shift in the genomic landscape, with a large increase in the number and phylogenetic breadth of high-quality reference genomes, alongside major advances in the pan-genome representations of higher species. In order to support these efforts and accelerate downstream research, Ensembl continues to focus on scaling for the rapid annotation of new genome assemblies, developing new methods for comparative analysis, and expanding the depth and quality of our genome annotations. This year we have continued our expansion to support global biodiversity research, doubling the number of annotated genomes we support on our Rapid Release site to over 1700, driven by our close collaboration with biodiversity projects such as Darwin Tree of Life. We have also strengthened support for key agricultural species, including the first regulatory builds for farmed animals, and have updated key tools and resources that support the global scientific community, notably the Ensembl Variant Effect Predictor. Ensembl data, software, and tools are freely available.


Subject(s)
Databases, Genetic , Genomics , Animals , Genome , Molecular Sequence Annotation , Phylogeny , Software , Humans
2.
Disabil Rehabil Assist Technol ; 18(1): 17-29, 2023 01.
Article in English | MEDLINE | ID: mdl-34176408

ABSTRACT

PURPOSE: This study intends to examine the web accessibility of three tourism supply agents (hotels, travel agents and museums). The results obtained contribute to observing whether there are differences in levels of web accessibility among these tourism supply agents and, based on the problems identified, suggest strategies to overcome these problems. METHODS: To evaluate the level of web accessibility of tourism supply agents, two automatic online tools (AccessMonitor and TAW), which consider Web Content Accessibility Guidelines (WCAG), version 2.0, were used. To identify differences among the supply tourism agents in terms of the level of web accessibility, statistical tests (ANOVA and Kruskal-Wallis) were used. RESULTS: All the tourism supply agents analysed reveal considerable problems related to web accessibility. The perceivable and robust principles are the two principles of WGAG 2.0 with the greatest number of failures. However, differences among the supply agents analysed are observed. Museums present the highest level of web accessibility, while travel agents have the lowest. Therefore, it is necessary to implement improvements in tourism websites to overcome informational constraints that many people with disabilities (PwD) face in tourism activities. CONCLUSIONS: Due to the central role of the Internet for people with and without disabilities, this study highlights barriers that should be eliminated to facilitate the travel decision-making process, especially for PwD. Consequently, it can contribute to a greater number of people being able to participate in tourism activities, improving their well-being and rehabilitation.Implications for rehabilitationThe participation in tourism activities contributes to improve health, quality-of-life and well-being of all people.For people with disabilities (PwD) to be able to travel, without constraints, access to online information needs to be provided.The identification of the level of web accessibility of tourism supply agents provides important guidelines to improve the websites, facilitating the travel tourism planning of PwD.If informational barriers to access tourism activities are eliminated, the participation of PwD in tourism activities will tend to increase, and consequently improvements in their well-being, health and rehabilitation will happen.


Subject(s)
Disabled Persons , Tourism , Humans , Travel , Disabled Persons/rehabilitation
3.
Nucleic Acids Res ; 51(D1): D933-D941, 2023 01 06.
Article in English | MEDLINE | ID: mdl-36318249

ABSTRACT

Ensembl (https://www.ensembl.org) has produced high-quality genomic resources for vertebrates and model organisms for more than twenty years. During that time, our resources, services and tools have continually evolved in line with both the publicly available genome data and the downstream research and applications that utilise the Ensembl platform. In recent years we have witnessed a dramatic shift in the genomic landscape. There has been a large increase in the number of high-quality reference genomes through global biodiversity initiatives. In parallel, there have been major advances towards pangenome representations of higher species, where many alternative genome assemblies representing different breeds, cultivars, strains and haplotypes are now available. In order to support these efforts and accelerate downstream research, it is our goal at Ensembl to create high-quality annotations, tools and services for species across the tree of life. Here, we report our resources for popular reference genomes, the dramatic growth of our annotations (including haplotypes from the first human pangenome graphs), updates to the Ensembl Variant Effect Predictor (VEP), interactive protein structure predictions from AlphaFold DB, and the beta release of our new website.


Subject(s)
Databases, Genetic , Software , Animals , Humans , Molecular Sequence Annotation , Genomics , Genome
5.
Biomedica ; 42(2): 379-390, 2022 06 01.
Article in English, Spanish | MEDLINE | ID: mdl-35867929

ABSTRACT

Introduction: Physical activity during pregnancy can be useful in the prevention of gestational complications. Objective: To estimate the prevalence of physical activity in adult Colombian pregnant women and its associated factors. Materials and methods: A secondary analysis of data from the 2015 National Nutrition Survey in Colombia was conducted. The total sample included 906 pregnant women. Leisure-time, commuting, and global physical activity were measured with the long version of the International Physical Activity Questionnaire. Factors associated with PA were evaluated through negative binomial regression models. Results: The prevalence of physical activity in pregnant women was 12.57% (95% CI=8.41-18.38), 28.66% (95% CI=23.29-34.70), and 36.33% (95% CI=30.92-42.11) in the leisuretime, commuting and global domains, respectively. Factors associated with leisure-time physical activity were living in Bogotá (prevalence ratio, PR=2.41; 95% CI=1.16-4.99), being in the third gestational trimester (PR=2.13; 95% CI=1.17-3.87), obtaining access to physical activity programs (PR=1.75; 95% CI=1.07-2.87), having a high school education (PR=0.51; 95% CI=0.29-0.91), and being in the second (PR=0.45; 95% CI=0.24-0.81), third and fourth quartiles of wealth (PR=0.43; 95% CI=0.23-0.80). Factors associated with physical activity while commuting were having at least one child (PR=1.60; 95% CI=1.14-2.24), living in Bogotá (PR=1.84; 95% CI=1.23-2.73), living with a partner (PR=0.66; 95% CI=0.49-0.89), and completing between one and four prenatal care sessions (PR=0.53; 95% CI=0.37-0.76). Conclusions: The prevalence of physical activity in pregnant Colombian women is worryingly low. Programs and projects aimed at promoting physical activity during pregnancy are needed.


Introducción. La actividad física durante el embarazo puede ser útil para la prevención de complicaciones gestacionales. Objetivo. Estimar la prevalencia de actividad física en mujeres gestantes adultas en Colombia y evaluar los factores asociados con su práctica. Materiales y métodos. Se hizo un análisis secundario de la información recolectada en la Encuesta Nacional de Situación Nutricional en Colombia del 2015. La muestra incluyó 906 mujeres gestantes. La actividad física en los dominios de tiempo libre, transporte y global se evaluó con la versión larga del International Physical Activity Questionnaire. Los factores asociados se evaluaron mediante modelos de regresión binomial negativa. Resultados. La prevalencia del cumplimiento de las recomendaciones de actividad física en las participantes fue de 12,57 % (IC95% 8,41-18,38), 28,66 % (IC95% 23,29-34,70) y 36,33 % (IC95% 30,92-42,11) en los dominios de tiempo libre, transporte y global, respectivamente. Los factores asociados con el dominio de tiempo libre fueron: residir en Bogotá (razón de prevalencia, RP=2,41; IC95% 1,16-4,99), encontrarse en el tercer trimestre de la gestación (RP=2,13; IC95% 1,17-3,87), disponer de programas de actividad física dirigida (RP=1,75; IC95% 1,07-2,87), nivel educativo de secundaria (RP=0,51; IC95% 0,29-0,91), y pertenecer a los cuartiles de riqueza dos (RP=0,45; IC95% 0,24-0,81), tres y cuatro (RP=0,43; IC95% 0,23-0,80). Los factores asociados con el transporte fueron: tener, por lo menos, un hijo (RP=1,60; IC95% 1,14-2,24), residir en Bogotá (RP=1,84; IC95% 1,23-2,73), convivir con compañero sentimental (RP=0,66: IC95% 0,49-0,89) y haber asistido a entre uno y cuatro controles prenatales (RP=0,53; IC95% 0,37-0,76). Conclusiones: La prevalencia de la actividad física en mujeres gestantes colombianas es preocupantemente baja. Se requiere la implementación de programas y proyectos orientados a la promoción de la actividad física durante el embarazo.


Subject(s)
Colombia/epidemiology
6.
Biomédica (Bogotá) ; 42(2): 378-390, ene.-jun. 2022. tab, graf
Article in Spanish | LILACS | ID: biblio-1403589

ABSTRACT

Introducción. La actividad física durante el embarazo puede ser útil para la prevención de complicaciones gestacionales. Objetivo. Estimar la prevalencia de actividad física en mujeres gestantes adultas en Colombia y evaluar los factores asociados con su práctica. Materiales y métodos. Se hizo un análisis secundario de la información recolectada en la Encuesta Nacional de Situación Nutricional en Colombia del 2015. La muestra incluyó 906 mujeres gestantes. La actividad física en los dominios de tiempo libre, transporte y global se evaluó con la versión larga del International Physical Activity Questionnaire. Los factores asociados se evaluaron mediante modelos de regresión binomial negativa. Resultados. La prevalencia del cumplimiento de las recomendaciones de actividad física en las participantes fue de 12,57 % (IC95% 8,41-18,38), 28,66 % (IC95% 23,29-34,70) y 36,33 % (IC95% 30,92-42,11) en los dominios de tiempo libre, transporte y global, respectivamente. Los factores asociados con el dominio de tiempo libre fueron: residir en Bogotá (razón de prevalencia, RP=2,41; IC95% 1,16-4,99), encontrarse en el tercer trimestre de la gestación (RP=2,13; IC95% 1,17-3,87), disponer de programas de actividad física dirigida (RP=1,75; IC95% 1,07-2,87), nivel educativo de secundaria (RP=0,51; IC95% 0,29-0,91), y pertenecer a los cuartiles de riqueza dos (RP=0,45; IC95% 0,24-0,81), tres y cuatro (RP=0,43; IC95% 0,23-0,80). Los factores asociados con el transporte fueron: tener, por lo menos, un hijo (RP=1,60; IC95% 1,14-2,24), residir en Bogotá (RP=1,84; IC95% 1,23-2,73), convivir con compañero sentimental (RP=0,66: IC95% 0,49-0,89) y haber asistido a entre uno y cuatro controles prenatales (RP=0,53; IC95% 0,37-0,76). Conclusiones: La prevalencia de la actividad física en mujeres gestantes colombianas es preocupantemente baja. Se requiere la implementación de programas y proyectos orientados a la promoción de la actividad física durante el embarazo.


Introduction: Physical activity during pregnancy can be useful in the prevention of gestational complications. Objective: To estimate the prevalence of physical activity in adult Colombian pregnant women and its associated factors. Materials and methods: A secondary analysis of data from the 2015 National Nutrition Survey in Colombia was conducted. The total sample included 906 pregnant women. Leisure-time, commuting, and global physical activity were measured with the long version of the International Physical Activity Questionnaire. Factors associated with PA were evaluated through negative binomial regression models. Results: The prevalence of physical activity in pregnant women was 12.57% (95% CI=8.41- 18.38), 28.66% (95% CI=23.29-34.70), and 36.33% (95% CI=30.92-42.11) in the leisuretime, commuting and global domains, respectively. Factors associated with leisure-time physical activity were living in Bogotá (prevalence ratio, PR=2.41; 95% CI=1.16-4.99), being in the third gestational trimester (PR=2.13; 95% CI=1.17-3.87), obtaining access to physical activity programs (PR=1.75; 95% CI=1.07-2.87), having a high school education (PR=0.51; 95% CI=0.29-0.91), and being in the second (PR=0.45; 95% CI=0.24-0.81), third and fourth quartiles of wealth (PR=0.43; 95% CI=0.23-0.80). Factors associated with physical activity while commuting were having at least one child (PR=1.60; 95% CI=1.14-2.24), living in Bogotá (PR=1.84; 95% CI=1.23-2.73), living with a partner (PR=0.66; 95% CI=0.49-0.89), and completing between one and four prenatal care sessions (PR=0.53; 95% CI=0.37-0.76). Conclusions: The prevalence of physical activity in pregnant Colombian women is worryingly low. Programs and projects aimed at promoting physical activity during pregnancy are needed.


Subject(s)
Pregnancy , Exercise , Public Health , Surveys and Questionnaires , Maternal Health , Leisure Activities
8.
Anim Reprod ; 19(4): e20220108, 2022.
Article in English | MEDLINE | ID: mdl-36819485

ABSTRACT

Cattle productivity in tropical and subtropical regions can be severely affected by the environment. Reproductive performance, milk and meat production are compromised by the heat stress imposed by the elevated temperature and humidity. The resulting low productivity contributes to reduce the farmer's income and to increase the methane emissions per unit of animal protein produced and the pressure on land usage. The introduction of highly productive European cattle breeds as well as crossbreeding with local breeds have been adopted as strategies to increase productivity but the positive effects have been limited by the low adaptation of European animals to hot climates and by the reduction of the heterosis effect in the following generations. Gene editing tools allow precise modifications in the animal genome and can be an ally to the cattle industry in tropical and subtropical regions. Alleles associated with production or heat tolerance can be shifted between breeds without the need of crossbreeding. Alongside assisted reproductive biotechnologies and genome selection, gene editing can accelerate the genetic gain of indigenous breeds such as zebu cattle. This review focuses on some of the potential applications of gene editing for cattle farming in tropical and subtropical regions, bringing aspects related to heat stress, milk yield, bull reproduction and methane emissions.

9.
Nucleic Acids Res ; 50(D1): D988-D995, 2022 01 07.
Article in English | MEDLINE | ID: mdl-34791404

ABSTRACT

Ensembl (https://www.ensembl.org) is unique in its flexible infrastructure for access to genomic data and annotation. It has been designed to efficiently deliver annotation at scale for all eukaryotic life, and it also provides deep comprehensive annotation for key species. Genomes representing a greater diversity of species are increasingly being sequenced. In response, we have focussed our recent efforts on expediting the annotation of new assemblies. Here, we report the release of the greatest annual number of newly annotated genomes in the history of Ensembl via our dedicated Ensembl Rapid Release platform (http://rapid.ensembl.org). We have also developed a new method to generate comparative analyses at scale for these assemblies and, for the first time, we have annotated non-vertebrate eukaryotes. Meanwhile, we continually improve, extend and update the annotation for our high-value reference vertebrate genomes and report the details here. We have a range of specific software tools for specific tasks, such as the Ensembl Variant Effect Predictor (VEP) and the newly developed interface for the Variant Recoder. All Ensembl data, software and tools are freely available for download and are accessible programmatically.


Subject(s)
Databases, Genetic , Genome/genetics , Molecular Sequence Annotation , Software , Animals , Computational Biology/classification , Humans
10.
Hum Mutat ; 43(8): 986-997, 2022 08.
Article in English | MEDLINE | ID: mdl-34816521

ABSTRACT

The Ensembl Variant Effect Predictor (VEP) is a freely available, open-source tool for the annotation and filtering of genomic variants. It predicts variant molecular consequences using the Ensembl/GENCODE or RefSeq gene sets. It also reports phenotype associations from databases such as ClinVar, allele frequencies from studies including gnomAD, and predictions of deleteriousness from tools such as Sorting Intolerant From Tolerant and Combined Annotation Dependent Depletion. Ensembl VEP includes filtering options to customize variant prioritization. It is well supported and updated roughly quarterly to incorporate the latest gene, variant, and phenotype association information. Ensembl VEP analysis can be performed using a highly configurable, extensible command-line tool, a Representational State Transfer application programming interface, and a user-friendly web interface. These access methods are designed to suit different levels of bioinformatics experience and meet different needs in terms of data size, visualization, and flexibility. In this tutorial, we will describe performing variant annotation using the Ensembl VEP web tool, which enables sophisticated analysis through a simple interface.


Subject(s)
Genomics , Software , Computational Biology , Databases, Genetic , Gene Frequency , Humans , Molecular Sequence Annotation , Phenotype
11.
J Phys Act Health ; 18(10): 1277-1285, 2021 09 06.
Article in English | MEDLINE | ID: mdl-34489368

ABSTRACT

BACKGROUND: Open Streets initiatives have allowed for physical activity (PA) in cities worldwide. However, few studies have evaluated the use of small Open Streets in low- and middle-income countries, such as those in Latin America. Thus, this study aimed to describe participation and PA level of users in the Recreovia program in Bucaramanga, Colombia. METHODS: A cross-sectional study was conducted during 5 Sundays from September to November 2017. Recreovia use was evaluated at 4 strategic points according to street accessibility (2 points) and aerobics class areas (2 points), using the System for Observing Play and Recreation in Communities. RESULTS: A total of 38,577 observations were made (34,969 on streets and 3608 in aerobics class areas). Men (63%) and adults (62%), with moderate to vigorous PA (MVPA) (98%) were observed on streets. The most common PAs were biking (50%), walking/dog walking (36%), and jogging (9%). In aerobics class areas, the most common groups were female (65%) and adults (89%). Participants were engaged in moderate to vigorous PA (91%). CONCLUSION: Measurement of number of participants at moderate to vigorous levels of PA was high. A difference between sexes and age in these street and aerobic class area groups was also observed.


Subject(s)
Bicycling , Walking , Animals , Colombia , Cross-Sectional Studies , Dogs , Female , Humans , Income , Residence Characteristics
12.
Reprod Domest Anim ; 56(8): 1128-1136, 2021 Aug.
Article in English | MEDLINE | ID: mdl-34021645

ABSTRACT

While microRNAs (miRNAs) are a class of non-coding RNAs important for embryo development, the relationship between them and heat stress during oocyte maturation has not yet been established. This study investigated the effect of heat shock during in vitro maturation (IVM) on the abundance of bta-miR-20a, -27b, -103, -21-5p, -19b, -1246 miRNAs and DROSHA and DICER1 mRNAs, previously reported for being involved in oocyte maturation, response to heat stress and miRNA biogenesis. Oocytes were exposed for 12h to heat shock during IVM, fertilized in vitro and the presumptive zygotes cultured for eight days. The relative quantification of miRNAs and mRNAs was performed by real-time PCR in vitro-matured oocytes and 8-cell stage embryos. Progression of meiosis, embryonic development and apoptotic indices was also evaluated. Heat shock compromised (p < .05) oocyte nuclear maturation, cleavage and embryo development, with a higher (p < .05) embryonic apoptotic index than the control group. The abundance of bta-miR-19b increased (p < .05) whereas the abundance of DROSHA transcripts decreased (p < .05) in embryos derived from heat-shocked oocytes. In conclusion, heat shock during IVM influences the abundance of bta-miR-19b and DROSHA in pre-implantation embryos, indicating a persistent effect of heat shock that can be associated with impaired embryo development.


Subject(s)
Cattle , Heat-Shock Response/physiology , In Vitro Oocyte Maturation Techniques/veterinary , MicroRNAs/metabolism , Oocytes/physiology , Animals , Embryo, Mammalian , Embryonic Development , Female , Fertilization in Vitro/veterinary , Gene Expression Regulation, Developmental , Male , RNA, Messenger , Ribonuclease III/genetics , Ribonuclease III/metabolism
13.
J Phys Act Health ; 18(4): 400-417, 2021 04 01.
Article in English | MEDLINE | ID: mdl-33657528

ABSTRACT

BACKGROUND: Global estimates have shown that a small proportion of children and adolescents are physically active. However, the evidence on physical activity (PA) among Colombian children and adolescents is limited. The objective of this study was to describe the prevalence and correlates of meeting PA guidelines among Colombian children and adolescents. METHODS: Data were collected as part of the National Survey of Nutrition 2015. A national sample of 16,612 children and adolescents (3-17 y) was included. Prevalence estimates of meeting PA and active play guidelines were calculated, and Poisson regression models were conducted to identify correlates of PA. RESULTS: Low proportion of Colombian children and adolescents met the PA guidelines. Low engagement in active play was observed among preschoolers. Correlates varied by age group. Female sex was a consistent negative correlate of meeting PA guidelines across all age groups. CONCLUSIONS: Urgent actions are needed to promote active play and PA among Colombian children and adolescents. The correlates identified in our study can help inform the development of actions to overcome the disparities and provide opportunities for children to achieve their full potential for healthy growth and development.


Subject(s)
Exercise , Health Status , Adolescent , Child , Colombia/epidemiology , Cross-Sectional Studies , Female , Humans , Prevalence
14.
J Med Genet ; 58(1): 1-11, 2021 01.
Article in English | MEDLINE | ID: mdl-32066632

ABSTRACT

BACKGROUND: Familial intestinal gastric cancer (FIGC) remains genetically unexplained and without testing/clinical criteria. Herein, we characterised the age of onset and disease spectrum of 50 FIGC families and searched for genetic causes potentially underlying a monogenic or an oligogenic/polygenic inheritance pattern. METHODS: Normal and tumour DNA from 50 FIGC probands were sequenced using Illumina custom panels on MiSeq, and their respective germline and somatic landscapes were compared with corresponding landscapes from sporadic intestinal gastric cancer (SIGC) and hereditary diffuse gastric cancer cohorts. RESULTS: The most prevalent phenotype in FIGC families was gastric cancer, detected in 138 of 208 patients (50 intestinal gastric cancer probands and 88 unknown gastric cancer histology relatives), followed by colorectal and breast cancers. After excluding benign and intronic variants lacking impact in splicing, 12 rare high-quality variants were found exclusively in 11 FIGC probands. Only two probands carried potentially deleterious variants, but lacked somatic second-hits, weakly supporting the monogenic hypothesis for FIGC. However, FIGC probands developed gastric cancer at least 10 years earlier and carried more TP53 germline common variants than SIGC (p=4.5E-03); FIGC and SIGC could be distinguished by specific germline and somatic variant profiles; there was an excess of FIGC tumours presenting microsatellite instability (38%); and FIGC tumours displayed significantly more somatic common variants than SIGC tumours (p=4.2E-06). CONCLUSION: This study proposed the first data-driven testing criteria for FIGC families, and supported FIGC as a genetically determined, likely polygenic, gastric cancer-predisposing disease, with earlier onset and distinct from patients with SIGC at the germline and somatic levels.


Subject(s)
Genetic Predisposition to Disease , Multifactorial Inheritance/genetics , Stomach Neoplasms/genetics , Tumor Suppressor Protein p53/genetics , Adult , Age of Onset , Aged , Aged, 80 and over , Female , Germ-Line Mutation/genetics , Humans , Male , Middle Aged , Pedigree , Stomach Neoplasms/epidemiology , Stomach Neoplasms/pathology
15.
Nucleic Acids Res ; 49(D1): D884-D891, 2021 01 08.
Article in English | MEDLINE | ID: mdl-33137190

ABSTRACT

The Ensembl project (https://www.ensembl.org) annotates genomes and disseminates genomic data for vertebrate species. We create detailed and comprehensive annotation of gene structures, regulatory elements and variants, and enable comparative genomics by inferring the evolutionary history of genes and genomes. Our integrated genomic data are made available in a variety of ways, including genome browsers, search interfaces, specialist tools such as the Ensembl Variant Effect Predictor, download files and programmatic interfaces. Here, we present recent Ensembl developments including two new website portals. Ensembl Rapid Release (http://rapid.ensembl.org) is designed to provide core tools and services for genomes as soon as possible and has been deployed to support large biodiversity sequencing projects. Our SARS-CoV-2 genome browser (https://covid-19.ensembl.org) integrates our own annotation with publicly available genomic data from numerous sources to facilitate the use of genomics in the international scientific response to the COVID-19 pandemic. We also report on other updates to our annotation resources, tools and services. All Ensembl data and software are freely available without restriction.


Subject(s)
Computational Biology/methods , Databases, Nucleic Acid , Genomics/methods , SARS-CoV-2/genetics , Vertebrates/genetics , Animals , COVID-19/epidemiology , COVID-19/virology , Humans , Internet , Molecular Sequence Annotation/methods , Pandemics , Vertebrates/classification
16.
Nucleic Acids Res ; 48(D1): D682-D688, 2020 01 08.
Article in English | MEDLINE | ID: mdl-31691826

ABSTRACT

The Ensembl (https://www.ensembl.org) is a system for generating and distributing genome annotation such as genes, variation, regulation and comparative genomics across the vertebrate subphylum and key model organisms. The Ensembl annotation pipeline is capable of integrating experimental and reference data from multiple providers into a single integrated resource. Here, we present 94 newly annotated and re-annotated genomes, bringing the total number of genomes offered by Ensembl to 227. This represents the single largest expansion of the resource since its inception. We also detail our continued efforts to improve human annotation, developments in our epigenome analysis and display, a new tool for imputing causal genes from genome-wide association studies and visualisation of variation within a 3D protein model. Finally, we present information on our new website. Both software and data are made available without restriction via our website, online tools platform and programmatic interfaces (available under an Apache 2.0 license) and data updates made available four times a year.


Subject(s)
Computational Biology/methods , Databases, Genetic , Epigenome , Molecular Sequence Annotation , Algorithms , Animals , Computer Graphics , Databases, Protein , Genetic Variation , Genome-Wide Association Study , Genomics , Histones/metabolism , Humans , Imaging, Three-Dimensional , Internet , Ligands , Search Engine , Software , Species Specificity , Transcriptome , User-Computer Interface , Web Browser
17.
Rev Chil Pediatr ; 90(5): 522-532, 2019 Oct.
Article in English, Spanish | MEDLINE | ID: mdl-31859736

ABSTRACT

INTRODUCTION: The development of motor skills influences the capacity of the child to interact with the environment. Thus, several instruments have been created for their assessment. OBJECTIVE: To evaluate the internal consistency, reproducibility, and agreement level of age band 1 of the Movement Assessment Battery for Children - 2 in a preschool group. PATIENTS AND METHOD: Assessment study of diagnostic tests with 29 preschoolers, selected by convenience, enrollments in an educational ins titution in Bucaramanga city, Colombia. For the inter-evaluators reproducibility assessment, three evaluators watched each video independently. In the intra-evaluator reproducibility assessment, each evaluator watched the same video on two different occasions. The internal consistency, the intra- and inter-evaluator reproducibility, and the agreement level were determined using Cronbach's alpha co efficient, the Intraclass Correlation Coefficient (ICC), and the Bland and Altman limits of agreement method, respectively. RESULTS: Internal consistency of the total test for each of the three evaluators was higher than 0.60. Very good reliability was found for all items, domains, and total score of age band 1 of MABC-2 (ICC > 0.85), as well as good limits of agreement. CONCLUSIONS: age band 1 of MABC-2 Spanish version is an instrument with adequate reliability psychometric properties that can be used for the motor skills development evaluation in preschoolers.


Subject(s)
Motor Skills Disorders/diagnosis , Motor Skills/physiology , Child , Child, Preschool , Colombia , Female , Humans , Language , Male , Observer Variation , Psychometrics , Reproducibility of Results
18.
Rev. chil. pediatr ; 90(5): 522-532, oct. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1058179

ABSTRACT

INTRODUCCIÓN: La adquisición de las destrezas motoras fundamentales influyen en la capacidad que tiene el niño para interactuar con el ambiente. Por lo anterior diversos instrumentos han sido creados para su evaluación. OBJETIVO: Evaluar la consistencia interna, reproducibilidad y el nivel de acuerdo de la Batería para la evaluación del Movimiento en Niños -2- banda 1 (MABC-2) en un grupo de preescolares. PACIENTES Y MÉTODO: Estudio de evaluación de pruebas diagnósticas con 29 preescolares, seleccionados por conveniencia, matriculados en una institución educativa de la ciudad de Bucaramanga, Colombia. Para la evaluación de la reproducibilidad inter-evaluadores, tres evaluadores observaron cada video de forma independiente. En la evaluación de la reproducibilidad intra-evaluador, cada evaluador observó el mismo video en dos oportunidades diferentes. Fue calculado el a de Cronbach para establecer la consistencia interna, la reproducibilidad intra y entre evaluadores fue calculada con el coeficiente de correlación intraclase (CCI) y el nivel de acuerdo fue determinado em pleando la metodología de Bland y Altman. RESULTADOS: La consistencia interna del total de la prueba para cada uno de los tres evaluadores fue superior a 0,60. Se encontró muy buena reproducibilidad para todos los ítems, atributos y el puntaje total del MABC-2 banda 1 (CCI > 0,85), así como buenos niveles de acuerdo. CONCLUSIÓN: La banda 1 del MABC-2 versión en español es un instrumento con adecuadas propiedades psicométricas de confiabilidad que puede ser utilizado para la evaluación del desarrollo motor en preescolares.


INTRODUCTION: The development of motor skills influences the capacity of the child to interact with the environment. Thus, several instruments have been created for their assessment. OBJECTIVE: To evaluate the internal consistency, reproducibility, and agreement level of age band 1 of the Movement Assessment Battery for Children - 2 in a preschool group. PATIENTS AND METHOD: Assessment study of diagnostic tests with 29 preschoolers, selected by convenience, enrollments in an educational ins titution in Bucaramanga city, Colombia. For the inter-evaluators reproducibility assessment, three evaluators watched each video independently. In the intra-evaluator reproducibility assessment, each evaluator watched the same video on two different occasions. The internal consistency, the intra- and inter-evaluator reproducibility, and the agreement level were determined using Cronbach's alpha co efficient, the Intraclass Correlation Coefficient (ICC), and the Bland and Altman limits of agreement method, respectively. RESULTS: Internal consistency of the total test for each of the three evaluators was higher than 0.60. Very good reliability was found for all items, domains, and total score of age band 1 of MABC-2 (ICC > 0.85), as well as good limits of agreement. CONCLUSIONS: age band 1 of MABC-2 Spanish version is an instrument with adequate reliability psychometric properties that can be used for the motor skills development evaluation in preschoolers.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Motor Skills Disorders/diagnosis , Motor Skills/physiology , Psychometrics , Observer Variation , Reproducibility of Results , Colombia , Language
19.
Rev Saude Publica ; 53: 41, 2019.
Article in English, Spanish | MEDLINE | ID: mdl-31066819

ABSTRACT

OBJECTIVE: To determine the frequency of the registry of physical activity and rest recommendations made to pregnant women and to explore their associated factors in a prenatal care program of primary care public institutions in Bucaramanga, Colombia. METHODS: An observational study was conducted. The sampling frame consisted of the medical records of the pregnant women who attended at least one prenatal care program between January 1 and December 31, 2012 (n = 2.932), in 21 primary care health centers. We analyzed sociodemographic variables, prenatal and clinical antecedents, and information related to health personnel and the organization of health centers as possible factors associated with the recommendations of physical activity and rest recorded in the clinical history. Logistic regression models were applied to explore associations with α = 0.10. RESULTS: There was a frequency of 26.1% of PA recommendations and 3.6% of rest recommendation on record, issued by nutrition (97.3%) and medical (86.7%) professionals, respectively. The factors associated with the registration of physical activity recommendations were: being nulliparous pregnant (OR = 1.7), attending more than four Prenatal Care Attention Programs (OR = 2.2), having high or medium obstetric risk in the first prenatal care program (OR = 0.6), and being attended in the western (OR = 0.5) and eastern (OR = 0.2) administrative areas health centers. CONCLUSIONS: The low frequency of physical activity recommendations found in the records makes it necessary to reinforce the management strategies of health centers and strengthen the monitoring and accompaniment to comply with the care protocols. In addition, it is necessary to train health teams on the benefits of physical activity and their proper prescription, considering the multiple benefits derived from their practice on the maternal-fetal health.


Subject(s)
Exercise/physiology , Pregnancy/physiology , Prenatal Care/methods , Prenatal Care/statistics & numerical data , Rest/physiology , Adolescent , Adult , Anthropometry , Colombia , Female , Health Personnel , Humans , Medical Records , Middle Aged , Prenatal Education/methods , Prenatal Education/statistics & numerical data , Reference Values , Risk Factors , Socioeconomic Factors , Young Adult
20.
Rev. saúde pública (Online) ; 53: 41, jan. 2019. tab
Article in English | LILACS | ID: biblio-1004506

ABSTRACT

ABSTRACT OBJECTIVE To determine the frequency of the registry of physical activity and rest recommendations made to pregnant women and to explore their associated factors in a prenatal care program of primary care public institutions in Bucaramanga, Colombia. METHODS An observational study was conducted. The sampling frame consisted of the medical records of the pregnant women who attended at least one prenatal care program between January 1 and December 31, 2012 (n = 2.932), in 21 primary care health centers. We analyzed sociodemographic variables, prenatal and clinical antecedents, and information related to health personnel and the organization of health centers as possible factors associated with the recommendations of physical activity and rest recorded in the clinical history. Logistic regression models were applied to explore associations with α = 0.10. RESULTS There was a frequency of 26.1% of PA recommendations and 3.6% of rest recommendation on record, issued by nutrition (97.3%) and medical (86.7%) professionals, respectively. The factors associated with the registration of physical activity recommendations were: being nulliparous pregnant (OR = 1.7), attending more than four Prenatal Care Attention Programs (OR = 2.2), having high or medium obstetric risk in the first prenatal care program (OR = 0.6), and being attended in the western (OR = 0.5) and eastern (OR = 0.2) administrative areas health centers. CONCLUSIONS The low frequency of physical activity recommendations found in the records makes it necessary to reinforce the management strategies of health centers and strengthen the monitoring and accompaniment to comply with the care protocols. In addition, it is necessary to train health teams on the benefits of physical activity and their proper prescription, considering the multiple benefits derived from their practice on the maternal-fetal health.


RESUMEN OBJETIVO Determinar la frecuencia del registro de recomendaciones de actividad física y reposo realizadas a las gestantes y explorar sus factores asociados, en un programa de atención de control prenatal de instituciones públicas de primer nivel de atención en Bucaramanga, Colombia. MÉTODOS Se realizó un estudio observacional. El marco muestral estuvo conformado por los registros médicos de las gestantes que asistieron al menos a un programa de atención de control prenatal entre el 1º de enero y 31 de diciembre de 2012 (n = 2,932), en 21 centros de salud de primer nivel de atención. Se analizaron variables sociodemográficas, antecedentes prenatales, antecedentes clínicos, e información relacionada con el personal de salud y la organización de los centros de salud como posibles factores asociados con las recomendaciones de actividad física y reposo registrados en la historia clínica. Se aplicaron modelos de regresión logística para explorar las asociaciones con un α = 0.10. RESULTADOS Se observó una frecuencia de 26.1% de registro de recomendaciones de AF y 3.6% de reposo, emitidas por parte de profesionales de nutrición (97.3%) y medicina (86.7%), respectivamente. Los factores asociados al registro de las recomendaciones de actividad física fueron: ser gestante nulípara (OR = 1.7), asistir a más de cuatro Programas de Atención de Control Prenatal (OR = 2.2), tener riesgo obstétrico alto o medio en el primer programa de atención de control prenatal (OR = 0.6) y ser atendidas en los centros de salud de las zonas administrativas de occidente (OR = 0.5) y oriente (OR = 0.2). CONCLUSIONES La baja frecuencia del registro de recomendaciones de actividad física encontrada, genera la necesidad de reforzar las estrategias de gestión de los centros de salud y fortalecer el monitoreo y acompañamiento en el cumplimiento de los protocolos de atención. Adicionalmente, es necesario capacitar a los equipos de salud sobre los beneficios de la actividad física y su prescripción adecuada, atendiendo a los múltiples beneficios derivados de su práctica sobre la salud materno-fetal.


Subject(s)
Humans , Female , Adolescent , Adult , Young Adult , Prenatal Care/methods , Prenatal Care/statistics & numerical data , Rest/physiology , Pregnancy/physiology , Exercise/psychology , Reference Values , Socioeconomic Factors , Anthropometry , Medical Records , Risk Factors , Health Personnel , Colombia , Prenatal Education/methods , Prenatal Education/statistics & numerical data , Middle Aged
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