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Forty-seven free-ranging sea turtles (46- Chelonia mydas, 1- Eretmochelys imbricata) were examined via novel use of an endoscopy combined with a rectal enema to obtain large fecal sample volumes. The cloaca was insufflated using an endoscope, after which the bladder and rectum separated, allowing access to the colon. Environmental conditions and location influenced the performance of the procedure initially, but after several attempts the procedure was successfully initiated. In all cases, fecal samples were obtained, and the animals were released to their respective locations. Fecal sample collection using this approach enhances the ability to obtain diagnostic information and perform other scientific analyses of sea turtles.
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Tortugas , Animales , Animales de Zoológico , Endoscopía , EnemaRESUMEN
Cultural heritage has become a keystone for comprehending our society, as it represents and reflects our origins, passions, beliefs and traditions. Furthermore, it provides fundamental information about specific temporary spaces, materials' availability, technology, artist's intention, and site weather conditions. Our aim was to develop a multidisciplinary approach with a main focus on investigating two Italian large-format paintings located in highly diverse environments such as the National Theater of Costa Rica. We monitored environmental conditions and quantified fungal aerial spores. Then, we determined regions of possible biodeterioration with the software MicroorganismPattern and used the software PigmentArrangement to elucidate the apparent colour of the paintings based on distribution and arrangement of the pigment crystals. Finally, we characterized eight genera of calcareous nannofossils found in the ground layers of the artwork. The former Men's Canteen at the National Theater of Costa Rica presented a mean air temperature of 23.5 [Formula: see text]C, a relative humidity of 72.7% and a concentration of CO[Formula: see text] of 570 ppm. The fungal aerial concentration was 1776 spores/m[Formula: see text]. The software MicroorganismPattern identified 32 sampling regions, out of which 11 were positive for microbial contamination. The software PigmentArrangement determined that the blue crystals (ultramarine pigment) had the shortest distances between themselves (29 [Formula: see text]m). Finally, the nanofossils identified enabled us to restrict the age of the material to a biostratigraphic interval ranging from Coniacian to Maastricthian ages. By using a multidisciplinary approach we were able to explore the diptych, suggest a set of minimally invasive perspectives in tropical environments to be used worldwide and obtain key information about the artist's artistic process, materials used along with better understand its state of conservation.
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BACKGROUND: Although Down syndrome (DS) is the most frequent human chromosomal disorder and it causes mainly intellectual disability, its clinical presentation is complex and variable. OBJECTIVE: We aimed to analyze and compare the transcriptome disruption in several brain areas from individuals with DS and euploid controls as a new approach to consider a global systemic differential disruption of gene expression beyond chromosome 21. METHODS: We used data from a DNA microarray experiment with ID GSE59630 previously deposited in the GEO DataSet of NCBI database. The array contained log2 values of 17,537 human genes expressed in several aeras of the human brain. We calculated the differential gene expression (Z-ratio) of all genes. RESULTS: We found several differences in gene expression along the DS brain transcriptome, not only in the genes located at chromosome 21 but in other chromosomes. Moreover, we registered the lowest Z-ratio correlation between the age ranks of 16-22 weeks of gestation and 39-42 years (R2 = 0.06) and the highest Z-ratio correlation between the age ranks of 30-39 years and 40-42 years (R2 = 0.89). The analysis per brain areas showed that the hippocampus and the cerebellar cortex had the most different gene expression pattern when compared to the brain as a whole. CONCLUSIONS: Our results support the hypothesis of a systemic imbalance of brain protein homeostasis, or proteostasis network of cognitive and neuroplasticity process, as new model to explain the important effect on the neurophenotype of trisomy that occur not only in the loci of chromosome 21 but also in genes located in other chromosomes.
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Síndrome de Down , Encéfalo/metabolismo , Síndrome de Down/genética , Perfilación de la Expresión Génica/métodos , Humanos , Lactante , Transcriptoma/genética , TrisomíaRESUMEN
DNA methylation and histone posttranslational modifications are epigenetics processes that contribute to neurophenotype of Down Syndrome (DS). Previous reports present strong evidence that nonhistone high-mobility-group N proteins (HMGN) are epigenetic regulators. They play important functions in various process to maintain homeostasis in the brain. We aimed to analyze the differential expression of five human HMGN genes in some brain structures and age ranks from DS postmortem brain samples. Methodology: We performed a computational analysis of the expression of human HMGN from the data of a DNA microarray experiment (GEO database ID GSE59630). Using the transformed log2 data, we analyzed the differential expression of five HMGN genes in several brain areas associated with cognition in patients with DS. Moreover, using information from different genome databases, we explored the co-expression and protein interactions of HMNGs with the histones of nucleosome core particle and linker H1 histone. Results: We registered that HMGN1 and HMGN5 were significantly overexpressed in the hippocampus and areas of prefrontal cortex including DFC, OFC, and VFC of DS patients. Age-rank comparisons between euploid control and DS individuals showed that HMGN2 and HMGN4 were overexpressed in the DS brain at 16 to 22 gestation weeks. From the BioGRID database, we registered high interaction scores of HMGN2 and HMGN4 with Hist1H1A and Hist1H3A. Conclusions: Overall, our results give strong evidence to propose that DS would be an epigenetics-based aneuploidy. Remodeling brain chromatin by HMGN1 and HMGN5 would be an essential pathway in the modification of brain homeostasis in DS.
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Cognición/fisiología , Síndrome de Down/genética , Proteínas HMGN/genética , Encéfalo/metabolismo , Mapeo Encefálico/métodos , Bases de Datos Genéticas , Síndrome de Down/metabolismo , Epigénesis Genética/genética , Expresión Génica/genética , Perfilación de la Expresión Génica/métodos , Regulación de la Expresión Génica/genética , Proteínas HMGN/metabolismo , Proteína HMGN1/genética , Proteína HMGN2/genética , Hipocampo/metabolismo , Humanos , Nucleosomas/genética , Corteza Prefrontal/metabolismo , Transactivadores/genética , Factores de Transcripción/genética , Transcriptoma/genéticaRESUMEN
Abstract Introduction: The high incidence of sports injuries in elite athletes is a concern in sports medicine. A broad vision of sport injuries in Colombia and its pathophysiology can be achieved in the scope of genomics, which could respond to numerous sports injuries from the Identification of single nucleotide polymorphism that lead to disabilities that affect the health of athletes and often distance them from the field of play. Objective: To determine the association of single nucleotide polymorphisms in various genes with sports injuries in soccer. Material and methods: We searched in the databases PubMed, ScienceDirect and EBSCO for studies published in the last 6 years to January 2020, including studies in English and Portuguese, corresponding to case-control clinical studies, where the experimental group were soccer practitioners and controls were supposedly healthy people. The final papers were assessed for quality and bias using the Jadad scoring scale or Oxford quality scoring system. From the data obtained, heterogeneity was identified with the I2 test and the Q statistic, for the estimation of the effect in the cohort studies the odds ratio and p value <0.05 were used, obtaining the forest plots of each gen. Results: 10 out of 1928 studies were selected, finding a degree of heterogeneity in all studies, such as the risk of injury to ACNT3 SNP (OR = 0.98, 95% CI 0.64-1.50), MMP (OR = 1.16, 95% CI 0.86 - 1.58, p = 0.33), TIMP2 (OR 1.03 95% CI 0.65-1.63), VEFGA (OR 0.98 95% CI 0.70-1.37). Conclusion: The studies showed moderate heterogeneity with statistical significance for the ACTN3 and TIM SNPs, providing a pathway for future studies that relate to sports injuries. MÉD.UIS.2021;34(3): 9-18.
Resumen Introducción: La alta incidencia de lesiones deportivas en atletas de élite es una preocupación en medicina deportiva. Se puede lograr una visión amplia sobre las lesiones deportivas en Colombia y sobre su fisiopatología desde el ámbito de la genómica, la cual podría responder a numerosas lesiones deportivas a partir de la Identificación de polimorfismos de nucleótido único que conducen a discapacidades que afectan la salud de los deportistas y frecuentemente los distancian del campo de juego. Objetivo: Determinar la asociación entre polimorfismos de nucleótido único en varios genes con lesiones deportivas en el fútbol. Materiales y métodos: Se realizó búsqueda en las bases de datos PubMed, ScienceDirect y EBSCO de estudios publicados en los últimos 6 años hasta enero de 2020, incluyendo estudios en inglés y portugués, correspondientes a estudios clínicos de casos y controles, donde el grupo experimental fueran practicantes de fútbol y los controles fueran personas presumiblemente saludables. Se evaluó la calidad y el sesgo de los artículos finales mediante la escala de puntuación de Jadad o el sistema de puntuación de calidad de Oxford. A partir de los datos obtenidos se identificó la heterogeneidad con la prueba de I2 y el estadístico Q, para la estimación del efecto en los estudios de cohorte se utilizaron odds ratio y valor p <0.05, obteniendo los forest plot de cada gen. Resultados. 10 de los 1928 estudios fueron seleccionados, se encontró un grado de heterogeneidad en todos los estudios, como el riesgo de lesión de los polimorfismos de nucleótido único para ACNT3 (OR = 0,98; IC del 95%: 0.64-1.50), MMP (OR = 1.16; IC del 95%: 0.86-1.58, p = 0.33), TIMP2 (OR = 1,03; IC del 95%: 0,65-1,63), VEFGA (OR = 0,98; IC del 95%: 0,70-1,37). Conclusión. Los estudios mostraron una heterogeneidad moderada con significancia estadística para los polimorfismos de nucleótido único de ACTN3 y TIM, lo que proporciona una vía para futuros estudios en relación con lesiones deportivas. MÉD.UIS.2021;34(3): 9-18.
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Humanos , Fútbol , Polimorfismo Genético , Heridas y Lesiones , Metaloproteinasas de la MatrizRESUMEN
The Pliocene-Pleistocene transition in the Neotropics is poorly understood despite the major climatic changes that occurred at the onset of the Quaternary. The San Gregorio Formation, the younger unit of the Urumaco Sequence, preserves a fauna that documents this critical transition. We report stingrays, freshwater bony fishes, amphibians, crocodiles, lizards, snakes, aquatic and terrestrial turtles, and mammals. A total of 49 taxa are reported from the Vergel Member (late Pliocene) and nine taxa from the Cocuiza Member (Early Pleistocene), with 28 and 18 taxa reported for the first time in the Urumaco sequence and Venezuela, respectively. Our findings include the first fossil record of the freshwater fishes Megaleporinus, Schizodon, Amblydoras, Scorpiodoras, and the pipesnake Anilius scytale, all from Pliocene strata. The late Pliocene and Early Pleistocene ages proposed here for the Vergel and Cocuiza members, respectively, are supported by their stratigraphic position, palynology, nannoplankton, and 86Sr/88Sr dating. Mammals from the Vergel Member are associated with the first major pulse of the Great American Biotic Interchange. In contrast to the dry conditions prevailing today, the San Gregorio Formation documents mixed open grassland/forest areas surrounding permanent freshwater systems, following the isolation of the northern South American basin from western Amazonia. These findings support the hypothesis that range contraction of many taxa to their current distribution in northern South America occurred rapidly during at least the last 1.5 million years.
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Abstract Recent studies have reported the occurrence of thrombotic phenomena or coagulopathy in patients with COVID-19. There are divergent positions regarding the prevention, diagnosis, and treatment of these phenomena, and current clinical practice is based solely on deductions by extension from retrospective studies, case series, observational studies, and international guidelines developed prior to the pandemic. In this context, the aim was to generate a group of recommendations on the prevention, diagnosis and management of thrombotic complications associated with COVID-19. Methods: A rapid guidance was carried out applying the GRADE Evidence to Decision (EtD) frameworks and an iterative participation system, with statistical and qualitative analysis. Results: 31 clinical recommendations were generated focused on: a) Coagulation tests in symptomatic adults with suspected infection or confirmed SARS CoV-2 infection; b) Thromboprophylaxis in adults diagnosed with COVID-19 (Risk scales, thromboprophylaxis for outpatient, in-hospital management, and duration of thromboprophylaxis after discharge from hospitalization), c) Diagnosis and treatment of thrombotic complications, and d) Management of people with previous indication of anticoagulant agents. Conclusions: Recommendations of this consensus guide clinical decision-making regarding the prevention, diagnosis, and treatment of thrombotic phenomena in patients with COVID-19, and represent an agreement that will help decrease the dispersion in clinical practices according to the challenge imposed by the pandemic.
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Humanos , Masculino , Femenino , Adulto , SARS-CoV-2 , COVID-19 , Embolia y Trombosis , Consenso , AnticoagulantesRESUMEN
Introducción estudios recientes han reportado fenómenos trombóticos o coagulopatía en pacientes con COVID-19. Hay posiciones divergentes en cuanto a la prevención, el diagnóstico y el tratamiento de estos fenómenos, y la práctica clínica actual está basada únicamente en deducciones por extensión a partir de estudios retrospectivos, series de casos, estudios observacionales y guías internacionales desarrolladas previas a la pandemia. Objetivo establecer una serie de recomendaciones sobre prevención, diagnóstico y manejo de las complicaciones trombóticas asociadas a COVID-19. Métodos se desarrolló una guía rápida en la que se aplicó el marco de la evidencia a la decisión (EtD) de GRADE y un sistema de participación iterativo, con análisis estadísticos y cualitativos de sus resultados. Resultados se generaron 31 recomendaciones clínicas enfocadas a: a) Pruebas de coagulación en adultos sintomáticos con sospecha de infección o infección confirmada por SARS-CoV-2; b) Tromboprofilaxis en personas adultas con diagnóstico de COVID-19 (escalas de riesgo, tromboprofilaxis de manejo ambulatorio, intrahospitalario y duración de tromboprofilaxis después del egreso de hospitalización), c) Diagnóstico y tratamiento de las complicaciones trombóticas y d) Manejo de personas con indicación previa a usar agentes anticoagulantes. Conclusiones las recomendaciones clínicas de este consenso orientan la toma de decisiones clínicas respecto a prevención, diagnóstico y tratamiento de fenómenos trombóticos en pacientes con COVID-19, y representan un acuerdo que ayudará a disminuir la dispersión en las prácticas clínicas acorde con el desafío que impone la pandemia.
Abstract Introduction: recent studies have reported the occurrence of thrombotic phenomena or coagulopathy in patients with COVID-19. There are divergent positions regarding the prevention, diagnosis, and treatment of these phenomena, and current clinical practice is based solely on deductions by extension from retrospective studies, case series, observational studies, and international guidelines developed prior to the pandemic. Objective: to generate a group of recommendations on the prevention, diagnosis and management of thrombotic complications associated with COVID-19. Methods: a rapid guidance was carried out applying the GRADE Evidence to Decision (EtD) frameworks and an iterative participation system, with statistical and qualitative analysis. Results: 31 clinical recommendations were generated focused on: a) Coagulation tests in symptomatic adults with suspected infection or confirmed SARS CoV-2 infection; b) Thromboprophylaxis in adults diagnosed with COVID-19 (Risk scales, thromboprophylaxis for outpatient, in-hospital management, and duration of thromboprophylaxis after discharge from hospitalization), c) Diagnosis and treatment of thrombotic complications, and d) Management of people with previous indication of anticoagulant agents. Conclusions: recommendations of this consensus guide clinical decision-making regarding the prevention, diagnosis, and treatment of thrombotic phenomena in patients with COVID-19, and represent an agreement that will help decrease the dispersion in clinical practices according to the challenge imposed by the pandemic.
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Humanos , Adulto , Consenso , Diagnóstico , COVID-19 , Trastornos de la Coagulación Sanguínea , Embolia y Trombosis , SARS-CoV-2 , COVID-19 , AnticoagulantesRESUMEN
Introduction: The exposure to organic solvents and paints has been associated with genotoxicity and a greater risk of neoplasms. However, the type of DNA damage induced in humans by the exposure to these compounds, which would help explain the mechanisms of their genotoxicity, is still not fully characterized. Due to inadequate practices of occupational safety, car painters in the informal sector are a highly exposed group to organic solvents and paints. Objective: To identify the oxidative and methylating damage in the DNA of lymphocytes of car painters exposed to organic solvents and paints. Materials and methods: Isolated peripheral blood lymphocytes from 62 painters and 62 unexposed subjects were analyzed by the modified high-throughput comet assay with the Fpg and AlkA enzymes. The categories used for the evaluation of the DNA damage were basal damage (without enzymes), oxidative and methylating damage. The measurement parameter used to establish the damage was the percentage of DNA in the tail. Results: The percentage of DNA in the tail was higher in the exposed group compared to the unexposed group (p<0.05). In the exposed group, this percentage was higher in the oxidative damage category than the baseline (16.50 vs. 12.87; p<0.001), whereas methylating damage did not show significant differences (14.00 vs. 12.87; p>0.05). Conclusion: In this study, exposure to organic solvents and paints was associated with an increase in oxidative lesions in the DNA of car painters' lymphocytes, such as the production of 8-oxodG and other formamidopyrimidine products which are considered highly mutagenic.
Introducción. La exposición a solventes orgánicos y pinturas se ha asociado con efectos genotóxicos y mayor riesgo de neoplasias. Sin embargo, aún no se ha caracterizado bien el tipo de daño que esta exposición induce en el ADN humano, ni los mecanismos por los cuales se genera. Uno de los grupos con mayor exposición a dichos solventes y pinturas son los pintores de automóviles del sector informal que trabajan sin adecuadas prácticas de seguridad ocupacional. Objetivo. Determinar el daño oxidativo y por metilación del ADN de linfocitos de pintores de automóviles expuestos a solventes orgánicos y pinturas. Materiales y métodos. Se analizaron linfocitos aislados de sangre periférica de 62 pintores y 62 sujetos no expuestos mediante el ensayo cometa de gran eficiencia acoplado a las enzimas Fpg y AlkA. Las categorías de daño en el ADN evaluadas fueron el daño basal (sin enzimas), el daño oxidativo y el daño por metilación, y el parámetro de medición, el porcentaje de ADN en la cola. Resultados. El porcentaje de ADN en la cola fue mayor en el grupo expuesto con respecto al no expuesto (p<0,05). En el grupo expuesto, dicho porcentaje fue mayor en la categoría de daño oxidativo comparado con la del basal (16,50 Vs. 12,87; p<0,001), en tanto que en el daño por metilación no se encontraron diferencias significativas (14,00 Vs. 12,87; p>0,05). Conclusión. La exposición a solventes orgánicos y pinturas se asoció con el aumento de las lesiones oxidativas del ADN de los linfocitos de pintores de automóviles, tales como la producción de 8-oxo-2'-desoxiguanosina (8-oxodG) y otros productos formamidopirimidina, los cuales se consideran considerablemente mutagénicos.
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Daño del ADN , Metilación de ADN , Exposición Profesional/efectos adversos , Estrés Oxidativo , Pintura/toxicidad , Solventes/toxicidad , Adulto , Automóviles , Estudios de Casos y Controles , Supervivencia Celular , Ensayo Cometa , Estudios Transversales , ADN/efectos de los fármacos , Humanos , Linfocitos/efectos de los fármacos , Masculino , Persona de Mediana Edad , Mutágenos/toxicidad , Adulto JovenRESUMEN
Resumen Introducción. La exposición a solventes orgánicos y pinturas se ha asociado con efectos genotóxicos y mayor riesgo de neoplasias. Sin embargo, aún no se ha caracterizado bien el tipo de daño que esta exposición induce en el ADN humano, ni los mecanismos por los cuales se genera. Uno de los grupos con mayor exposición a dichos solventes y pinturas son los pintores de automóviles del sector informal que trabajan sin adecuadas prácticas de seguridad ocupacional. Objetivo. Determinar el daño oxidativo y por metilación del ADN de linfocitos de pintores de automóviles expuestos a solventes orgánicos y pinturas. Materiales y métodos. Se analizaron linfocitos aislados de sangre periférica de 62 pintores y 62 sujetos no expuestos mediante el ensayo cometa de gran eficiencia acoplado a las enzimas Fpg y AlkA. Las categorías de daño en el ADN evaluadas fueron el daño basal (sin enzimas), el daño oxidativo y el daño por metilación, y el parámetro de medición, el porcentaje de ADN en la cola. Resultados. El porcentaje de ADN en la cola fue mayor en el grupo expuesto con respecto al no expuesto (p<0,05). En el grupo expuesto, dicho porcentaje fue mayor en la categoría de daño oxidativo comparado con la del basal (16,50 Vs. 12,87; p<0,001), en tanto que en el daño por metilación no se encontraron diferencias significativas (14,00 Vs. 12,87; p>0,05). Conclusión. La exposición a solventes orgánicos y pinturas se asoció con el aumento de las lesiones oxidativas del ADN de los linfocitos de pintores de automóviles, tales como la producción de 8-oxo-2'-desoxiguanosina (8-oxodG) y otros productos formamidopirimidina, los cuales se consideran considerablemente mutagénicos.
Abstract Introduction: The exposure to organic solvents and paints has been associated with genotoxicity and a greater risk of neoplasms. However, the type of DNA damage induced in humans by the exposure to these compounds, which would help explain the mechanisms of their genotoxicity, is still not fully characterized. Due to inadequate practices of occupational safety, car painters in the informal sector are a highly exposed group to organic solvents and paints. Objective: To identify the oxidative and methylating damage in the DNA of lymphocytes of car painters exposed to organic solvents and paints. Materials and methods: Isolated peripheral blood lymphocytes from 62 painters and 62 unexposed subjects were analyzed by the modified high-throughput comet assay with the Fpg and AlkA enzymes. The categories used for the evaluation of the DNA damage were basal damage (without enzymes), oxidative and methylating damage. The measurement parameter used to establish the damage was the percentage of DNA in the tail. Results: The percentage of DNA in the tail was higher in the exposed group compared to the unexposed group (p<0.05). In the exposed group, this percentage was higher in the oxidative damage category than the baseline (16.50 vs. 12.87; p<0.001), whereas methylating damage did not show significant differences (14.00 vs. 12.87; p>0.05). Conclusion: In this study, exposure to organic solvents and paints was associated with an increase in oxidative lesions in the DNA of car painters' lymphocytes, such as the production of 8-oxodG and other formamidopyrimidine products which are considered highly mutagenic.
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Adulto , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Pintura/toxicidad , Solventes/toxicidad , Daño del ADN , Exposición Profesional/efectos adversos , Estrés Oxidativo , Metilación de ADN , Automóviles , ADN/efectos de los fármacos , Linfocitos/efectos de los fármacos , Estudios de Casos y Controles , Supervivencia Celular , Estudios Transversales , Ensayo Cometa , Mutágenos/toxicidadRESUMEN
Resumen Objetivo: Analizar la complejidad de la expresión génica en tejido adiposo de genes asociados con obesidad, mediante simulación computacional con diferentes herramientas bioinformáticas. Métodos: Después de una búsqueda bibliográfica en PubMed, se seleccionaron 37 genes asociados con obesidad con fold change mayor a 1,5. A partir del cálculo de valores de los z-score obtenidos de experimentos de micromatrices de ADN de muestras de tejido adiposo de personas obesas y de control, se construyó una red de interacción con el programa Cytoscape 3.2. La información detallada sobre las características genómicas de estos genes se extrajo de las bases de datos Genome Browser de la UCSC y del NCBI. Utilizando herramientas de análisis de multivariado, se hizo un análisis de componentes principales y uno de agrupación. Resultados: La red construida mostró que los genes con mayor número de interacciones fueron: 1) el factor nuclear respiratorio (NRF1), 2) el canal activado de potasio activado por calcio alfa 1 (KCNMA1) y 3) la sintasa de ácidos grasos (FASN). Los que tuvieron mayores valores de expresión fueron: 1) el factor de crecimiento endotelial vascular A (VEGFA), 2) la dioxigenasa dependiente de alfa-cetoglutarato (FTO) y 3) el regulador de crecimiento neuronal 1 (NEGR1). Las proteínas IL6, BDNF y HLC tuvieron los mayores valores de interacción con IL6R, NRF1 y ACACB, respetivamente. Las categorías ontológicas más importantes se relacionaron con procesos metabólicos de lipoproteínas, el ciclo de los ácidos tricarboxílicos, la activación de las MAP-quinasas y la cascada JNK. Conclusiones: En su conjunto los resultados obtenidos de sobreexpresión diferencial de genes asociados con el metabolismo de lípidos en el tejido adiposo de personas obesas podría ser un criterio para discriminar a nivel de diagnóstico esta patología.
Summary Objective: To analyze the complexity of gene expression in the adipose tissue of genes associated with obesity, by computer simulation with different bioinformatics tools. Methods: After conducting a PubMed literature search, 37 genes associated with obesity with a fold change greater than 1.5 were selected. An interaction network was cons tructed using the Cytoscape 3.2 program from the calculation of z-score values obtained from DNA microarray experiments of adipose tissue samples collected from obese and control people. Detailed information on the genomic characteristics of these genes was extracted from the UCSC and NCBI Genome Browser databases. Using multivariate analysis tools, a principal component analysis and a cluster analysis were carried out. Results: The constructed network showed that the genes with the greatest number of interactions were: 1) the nuclear respiratory factor (NRF1), 2) the activated channel of potassium activate by calcium alpha 1 (KCNMA1), and 3) the fatty acid synthase (FASN). Those with the higher expression values were: 1) vascular endothelial growth factor A (VEGFA), 2) alpha-ketoglutarate-dependent dioxygenase (FTO), and 3) neuronal growth regulator 1 (NEGR1). The IL6, BDNF and HLC proteins had the highest interaction values with IL6R, NRF1 and ACACB, respectively. The most important ontological categories were related to lipoprotein metabolic processes, the tricarboxylic acid cycle, the activation of the MAP kinases, and the JNK cascade. Conclusions: As a whole, the results obtained from differential overexpression of genes associated with lipid metabolism in the adipose tissue of obese people could be a criterion to discriminate this pathology at a diagnostic level.
Resumo Objetivo: Analisar a complexidade da expressão gênica no tecido adiposo de genes associados com obesidade, por meio de simulação por computador com diferentes ferramentas bioinformáticas. Métodos: Após uma busca bibliográfica em PubMed, foram selecionados 37 genes associados com obesidade com fold change superior a 1,5. A partir do cálculo de valores dos z-score obtidos de experimentos de micro matrizes de ADN de amostras de tecido adiposo de pessoas obesas e de controle, construiu-se uma rede de interação com o programa Cytoscape 3.2. A informação detalhada sobre as características genômicas destes genes foi obtida das bases de dados Genome Browser da UCSC e do NCBI. Utilizando ferramentas de análise de multivariado, fez-se uma análise de componentes principais e um de agrupação. Resultados: A rede construída mostrou que os genes com maior número de interações foram: 1) o fator nuclear respiratório (NRF1), 2) o canal ativado de potássio ativado por cálcio alfa 1 (KCNMA1) e 3) ácido graxo sintase (FASN). Os que tiveram maiores valores de expressão foram: 1) o fator de crescimento endo-telial vascular A (VEGFA), 2) a dioxigenase dependente de alfa-cetoglutarato (FTO) e 3) o regulador de crescimento neuronal 1 (NEGR1). As proteínas IL6, BDNF e HLC tiveram os maiores valores de interação com IL6R, NRF1 e ACACB, respectivamente. As categorias ontológicas mais importantes se relacionaram com processos metabólicos de lipoproteínas, o ciclo dos ácidos tri carboxílicos, a ativação das MAP-quinases e a cascata JNK. Conclusões: Em seu conjunto, os resultados obtidos de superexpressão diferencial de genes associados com o metabolismo de lipídios no tecido adiposo de pessoas obesas poderia ser um critério para discriminar a nível de diagnóstico esta patologia.
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Humanos , Obesidad , Expresión Génica , Tejido Adiposo , Biología ComputacionalRESUMEN
The complex processes involved with animal migration have long been a subject of biological interest, and broad-scale movement patterns of many marine turtle populations still remain unresolved. While it is widely accepted that once marine turtles reach sexual maturity they home to natal areas for nesting or reproduction, the role of philopatry to natal areas during other life stages has received less scrutiny, despite widespread evidence across the taxa. Here we report on genetic research that indicates that juvenile hawksbill turtles (Eretmochelys imbricata) in the eastern Pacific Ocean use foraging grounds in the region of their natal beaches, a pattern we term natal foraging philopatry. Our findings confirm that traditional views of natal homing solely for reproduction are incomplete and that many marine turtle species exhibit philopatry to natal areas to forage. Our results have important implications for life-history research and conservation of marine turtles and may extend to other wide-ranging marine vertebrates that demonstrate natal philopatry.
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Occupational exposure as a painter is associated with DNA damage and development of cancer. Comet assay has been widely adopted as a sensitive and quantitative tool for DNA damage assessment at the individual cell level in populations exposed to genotoxics. The aim of this study was to assess the application of the high-throughput comet assay, to determine the DNA damage in car spray painters. The study population included 52 car spray painters and 52 unexposed subjects. A significant increase in the %TDNA median (p < 0.001) was observed in the exposed group in comparison to the unexposed group. Neither age (%TDNA: p = 0.913) nor time of exposure (%TDNA: p = 0.398) were significantly correlated with DNA damage. The car spray painters who consumed alcohol did not show a significant increase in DNA damage compared to nonalcohol consumers (p > 0.05). The results showed an increase in DNA breaks in car spray painters exposed to organic solvents and paints; furthermore, they demonstrated the application of high-throughput comet assay in an occupational exposure study to genotoxic agents.
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Contaminantes Ocupacionales del Aire/toxicidad , Daño del ADN , Linfocitos/efectos de los fármacos , Exposición Profesional/efectos adversos , Pintura/análisis , Solventes/toxicidad , Estudios de Casos y Controles , Ensayo Cometa , Estudios Transversales , Ensayos Analíticos de Alto Rendimiento , Humanos , Linfocitos/patología , Masculino , Exposición Profesional/análisisRESUMEN
Prior to 2008 and the discovery of several important hawksbill turtle (Eretmochelys imbricata) nesting colonies in the EP (Eastern Pacific), the species was considered virtually absent from the region. Research since that time has yielded new insights into EP hawksbills, salient among them being the use of mangrove estuaries for nesting. These recent revelations have raised interest in the genetic characterization of hawksbills in the EP, studies of which have remained lacking to date. Between 2008 and 2014, we collected tissue samples from 269 nesting hawksbills at nine rookeries across the EP and used mitochondrial DNA sequences (766 bp) to generate the first genetic characterization of rookeries in the region. Our results inform genetic diversity, population differentiation, and phylogeography of the species. Hawksbills in the EP demonstrate low genetic diversity: We identified a total of only seven haplotypes across the region, including five new and two previously identified nesting haplotypes (pooled frequencies of 58.4% and 41.6%, respectively), the former only evident in Central American rookeries. Despite low genetic diversity, we found strong stock structure between the four principal rookeries, suggesting the existence of multiple populations and warranting their recognition as distinct management units. Furthermore, haplotypes EiIP106 and EiIP108 are unique to hawksbills that nest in mangrove estuaries, a behavior found only in hawksbills along Pacific Central America. The detected genetic differentiation supports the existence of a novel mangrove estuary "reproductive ecotype" that may warrant additional conservation attention. From a phylogeographic perspective, our research indicates hawksbills colonized the EP via the Indo-Pacific, and do not represent relict populations isolated from the Atlantic by the rising of the Panama Isthmus. Low overall genetic diversity in the EP is likely the combined result of few rookeries, extremely small reproductive populations and evolutionarily recent colonization events. Additional research with larger sample sizes and variable markers will help further genetic understanding of hawksbill turtles in the EP.
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Introducción: La preeclampsia continúa siendo la primera causa de morbimortalidad perinatal. El conocimiento sobre su etiología molecular se ha incrementado en los últimos años debido al avance en la aplicación de las ciencias "ómicas". Ello ha llevado a identificar genes candidatos que participarían en su patogénesis. Objetivo: Identificar y caracterizar estructural y funcionalmente genes expresados en placenta que se asocian con preeclampsia. Métodos: A partir de una revisión de literatura de los últimos diez años, se identificaron 16 genes cuya expresión en placenta estaba asociada con la patología. Se realizó la minería de datos incluyendo las siguientes variables: número de genes, tamaño de los genes, número de exones codificantes, islas CpG y las familias de los diferentes elementos repetidos en una ventana de 100Kbp. Mediante un análisis bioinformático, usando los diferentes recursos del NCBI (www.ncbi.nlm.nih.gov) y del Genome Browser de UCSC (http://genome.ucsc.edu/). Adicionalmente se usó el portal BioGPS (http://biogps.gnf.org/#goto=welcome) se determinaron los niveles de expresión de cada gen por tejidos. Resultados: Se registraron diferencias en la cromatina que contiene las familias de elementos no codificantes de los genes asociados en comparación con los controles (Prueba de Kruskall-Wallis, P= 0.0341824). Los genes LEP, EBI3, PROCR, FSTL3, HEXB, INHBA y ENG fueron los que registraron el mayor puntaje z en placentas preeclámpsicas. Conclusión:La aplicación de las herramientas bioinformáticas se convierte en un instrumento potente para el análisis integrado de la expresión de genes y su papel en la patogénesis de la PE. Esto conllevaría a la identificación temprana de mujeres afectadas.
Introduction: Preeclampsia still is the main cause of perinatal morbi-mortality; due to the advance in the application of the omics sciences the knowledge about its molecular etiology has increased in the last years, this has led to the identification of candidate genes, which would be involved in its pathogenesis. Objective: To identify those genes, expressed in placenta that are associated with preeclampsia and compare their structural and functional characteristics. Methods: From a literature review, 16 genes were found, whose expression in placenta was associated to the pathology. Data mining was performed including the following genomic variables: number of genes, genomic size, coding exon count, CpG islands and repeat elements in a 100Kbp window. For the Bioinformatics analysis, we used different resources of the NCBI (www.ncbi.nlm.nih.gov) and the UCSC Genome Browser (http://genome.ucsc.edu/). Furthermore, the portal BioGPS (http://biogps.gnf.org/#goto=welcome) Was used to determine the expression levels of each gene per tissue. Results: Significant differences were found for the non-coding elements of the chromatin in that associated genes, in comparison with controls (Kruskall-Wallis test, P= 0.0341824). The genes LEP, EBI3, PROCR, FSTL3, HEXB, INHBA and ENG were the ones with the highest z- score values in preeclampsic placenta. Conclusion: The application of computational tools has become a powerful instrument for the integrated analysis of gene expression and its role in the pathogenesis of PE. This would lead to an early detection of affected women.
Introdução: A pré-eclâmpsia ainda é a principal causa perinatal Morbi-mortalidade; devido ao avanço na aplicação das ciências "ómicas" o conhecimento sobre sua etiologia molecular tem aumentado nos últimos anos, Isto levou à identificação de genes candidatos, que estariam envolvidos na sua Patogênese. Objetivo: Para identificar esses genes, Expresso em placenta que está associada à pré-eclâmpsia e comparar as suas características estruturais e funcionais. Métodos: A partir de uma revisão da literatura, foram encontrados 16 genes, cuja expressão na placenta foi asociada à patología. Extração de dados Foi realizada incluindo as seguintes variáveis genómicas: Número de genes, tamanho genômico, exon contagem de codificação, CpG ilhas e repetir elementos em uma janela de 100Kbp. Para a análise bioinformática, Utilizamos diferentes recursos do NCBI (www.ncbi.nlm.nih.gov) e do UCSC Genome Browser (http://genome.ucsc.edu/). Além disso, o portal BioGPS (http://biogps.gnf.org/#goto=welcome) foi utilizado para determinar os níveis de expressão de cada gene por tecido. Resultados: Se encontrou diferenças significativas para os elementos não codificantes da cromatina nos genes associados, Em comparação com os controlos (teste de Kruskall-Wallis, P = 0,0341824). Os genes LEP, EBI3, PROCR, FSTL3, HEXB, INHBA e ENG foram os que apresentaram os maiores valores de z-score na placenta pré-eclâmpsica. Conclusão: A aplicação de ferramentas computacionais tornou-se um poderoso instrumento para a análise integrada da expressão gênica e seu papel na patogênese da PE. Isso levaria a uma detecção precoce das mulheres afetadas.
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Preeclampsia , Expresión Génica , Bioingeniería , Minería de DatosRESUMEN
Introduction: To date there has been no statistical evaluation of the profiles of immunoglobulin classes and viral replication as variables in the study of HTLV-1 infection and circulation among families in virus-endemic areas of Colombia. Objective: To evaluate the correlation of several immunological and molecular characteristics with the transmission and circulation of HTLV-1 among families in the town of Tumaco. Materials and methods: Plasma levels of HTLV-1 specific immunoglobulin classes IgG, IgM and IgA1, as well as IgG and sIgA in oral fluids, were calculated for 32 members of 10 family groups from Tumaco in which the mother and at least one child were infected with the virus. Levels of the different immunoglobulin classes were correlated with viral RNA circulating in plasma or oral fluids and the proviral burden as detected by RT-PCR. Results: Significant differences were determined between mothers and carrier children for immunoglobulin levels (p=0.037) and proviral burden (p=0.002). The overall estimate of IgG in plasma and sIgA in oral fluids could be correlated with the circulation of free viral RNA in both fluids and high proviral burden, and associated with HAM/TSP mothers. The detection of anti- tax IgG in plasma revealed differences between HAM/TSP mothers and their offspring. Conclusion: The study of immunological and molecular variables permitted the analysis of HTLV-1 circulation among families of Tumaco. The strong correlation between levels of IgM specific for the virus and viral RNA circulating in fluids indirectly confirmed the transmission of HTLV-1 among families.
Introducción. Todavía no hay una evaluación estadística de los perfiles de las clases de inmuno- globulina s y la replicación viral, como variables para estudiar la infección y la circulació n del HTLV-1 en familias de zonas endémicas en Colombia. Objetivo. Evaluar la correlación de varias características inmunológicas y moleculares, con la transmisión y circulación del virus en familias del municipio de Tumaco. Materiales y métodos. Se calcularon los niveles de IgG, IgM e IgA1 en plasma, e IgG y IgA secretoria en fluido oral, de 32 miembros de 10 grupos familiares de Tumaco, en los que la madre y, al menos, un hijo estaban infectados con el virus. La concentración de las diferentes clases de inmunoglobulinas se pudo correlacionar con la circulación de ARN viral libre en plasma y fluido oral, y la carga proviral, según su detección mediante reacción en cadena de la polimerasa de transcripción inversa. Resultados. Se encontraron diferencias significativas en los niveles de inmunoglobulinas (p=0,037) y en la carga proviral (p=0,002) entre madres e hijos portadores. La estimación total de IgG en plasma e IgA secretoria en fluido oral, se pudo correlacionar con la circulación de ARN viral libre en ambos fluidos y una alta carga proviral, y se asoció con las madres paraparesia espástica tropical o mielopatía asociada con el HTLV-1. La detección en plasma de IgG anti-Tax reveló diferencias entre ellas y sus hijos. Conclusión. El estudio de las variables inmunológicas y moleculares permitió analizar la circulación del HTLV-1 en familias de Tumaco. La fuerte asociación entre los niveles de IgM específica para el virus y el ARN viral circulante en los fluidos y la carga proviral, confirmó indirectamente la transmisión intrafamiliar del virus.
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Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , ARN Viral/análisis , Virus Linfotrópico T Tipo 1 Humano/aislamiento & purificación , Anticuerpos Anti-HTLV-I/análisis , Infecciones por HTLV-I/epidemiología , Salud de la Familia , Viremia/inmunología , Viremia/epidemiología , Viremia/virología , Lactancia Materna/efectos adversos , ARN Viral/sangre , Virus Linfotrópico T Tipo 1 Humano/genética , Virus Linfotrópico T Tipo 1 Humano/inmunología , Anticuerpos Anti-HTLV-I/sangre , Infecciones por HTLV-I/inmunología , Infecciones por HTLV-I/transmisión , Infecciones por HTLV-I/virología , Estudios Seroepidemiológicos , Estudios Transversales , Provirus/aislamiento & purificación , Colombia/epidemiología , Transmisión Vertical de Enfermedad Infecciosa , Enfermedades Endémicas , MadresRESUMEN
INTRODUCTION: To date there has been no statistical evaluation of the profiles of immunoglobulin classes and viral replication as variables in the study of HTLV-1 infection and circulation among families in virus-endemic areas of Colombia. OBJECTIVE: To evaluate the correlation of several immunological and molecular characteristics with the transmission and circulation of HTLV-1 among families in the town of Tumaco. MATERIALS AND METHODS: Plasma levels of HTLV-1 specific immunoglobulin classes IgG, IgM and IgA1, as well as IgG and sIgA in oral fluids, were calculated for 32 members of 10 family groups from Tumaco in which the mother and at least one child were infected with the virus. Levels of the different immunoglobulin classes were correlated with viral RNA circulating in plasma or oral fluids and the proviral burden as detected by RT-PCR. RESULTS: Significant differences were determined between mothers and carrier children for immunoglobulin levels (p=0.037) and proviral burden (p=0.002). The overall estimate of IgG in plasma and sIgA in oral fluids could be correlated with the circulation of free viral RNA in both fluids and high proviral burden, and associated with HAM/TSP mothers. The detection of anti- tax IgG in plasma revealed differences between HAM/TSP mothers and their offspring. CONCLUSION: The study of immunological and molecular variables permitted the analysis of HTLV-1 circulation among families of Tumaco. The strong correlation between levels of IgM specific for the virus and viral RNA circulating in fluids indirectly confirmed the transmission of HTLV-1 among families.
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Salud de la Familia , Anticuerpos Anti-HTLV-I/análisis , Infecciones por HTLV-I/epidemiología , Virus Linfotrópico T Tipo 1 Humano/aislamiento & purificación , ARN Viral/análisis , Adolescente , Adulto , Lactancia Materna/efectos adversos , Niño , Preescolar , Colombia/epidemiología , Estudios Transversales , Enfermedades Endémicas , Femenino , Anticuerpos Anti-HTLV-I/sangre , Infecciones por HTLV-I/inmunología , Infecciones por HTLV-I/transmisión , Infecciones por HTLV-I/virología , Virus Linfotrópico T Tipo 1 Humano/genética , Virus Linfotrópico T Tipo 1 Humano/inmunología , Humanos , Transmisión Vertical de Enfermedad Infecciosa , Masculino , Persona de Mediana Edad , Madres , Provirus/aislamiento & purificación , ARN Viral/sangre , Estudios Seroepidemiológicos , Viremia/epidemiología , Viremia/inmunología , Viremia/virología , Adulto JovenRESUMEN
Background: The information of gene expression obtained from databases, have made possible the extraction and analysis of data related with several molecular processes involving not only in brain homeostasis but its disruption in some neuropathologies; principally in Down syndrome and the Alzheimer disease. Objective: To correlate the levels of transcription of 19 genes located in the Down Syndrome Critical Region (DSCR) with their expression in several substructures of normal human brain. Methods: There were obtained expression profiles of 19 DSCR genes in 42 brain substructures, from gene expression values available at the database of the human brain of the Brain Atlas of the Allen Institute for Brain Sciences", (http://human.brain-map.org/). The co-expression patterns of DSCR genes in brain were calculated by using multivariate statistical methods. Results: Highest levels of gene expression were registered at caudate nucleus, nucleus accumbens and putamen among central areas of cerebral cortex. Increased expression levels of RCAN1 that encode by a protein involved in signal transduction process of the CNS were recorded for PCP4 that participates in the binding to calmodulin and TTC3; a protein that is associated with differentiation of neurons. That previously identified brain structures play a crucial role in the learning process, in different class of memory and in motor skills. Conclusion: The precise regulation of DSCR gene expression is crucial to maintain the brain homeostasis, especially in those areas with high levels of gene expression associated with a remarkable process of learning and cognition.
Introducción: La información de la expresión de genes consignada en bases de datos, ha permitido extraer y analizar información acerca procesos moleculares implicados tanto en la homeostasis cerebral y su alteración en algunas neuropatologías. Objetivos: Correlacionar los niveles de transcripción de 19 genes localizados en la región crítica del cromosoma 21, asociada a Síndrome de Down (DSCR), con la localización cerebral y su coexpresión en diferentes subestructuras del cerebro humano. Métodos: A partir de valores de expresión génica disponibles en la base de datos del proyecto cerebro humano del Atlas del Cerebro del "Allen Institute for Brain Sciences" (http://human.brain-map.org/), se construyeron perfiles de expresión de 19 genes DSCR en 42 subestructuras cerebrales. Además, utilizando métodos estadísticos multivariados se analizaron los patrones de coexpresión de genes DSCR en el cerebro normal. Resultados: En el núcleo caudado, el núcleo accumbens y el putamen además de las Áreas centrales 2, 3 y 4, se determinaron los valores de expresión más elevados para los genes incluidos RCAN1, que codifica para una proteína involucrada en el proceso de transducción de señales de SNC; PCP4 cuya proteína interviene en la unión a la calmodulina y TTC3 una proteína que interviene en la diferenciación de neuronas. Las subestructuras identificadas con una elevada expresión de estos genes, están asociadas con procesos de aprendizaje, en diferentes tipos de memoria y habilidades motoras. Conclusiones: La regulación de la expresión de los genes DSCR es clave para mantener la homeostasis cerebral, especialmente en aquellas áreas de mayor expresión, las cuales están asociadas con procesos sumamente importantes.
Asunto(s)
Humanos , Encéfalo/fisiología , Síndrome de Down/genética , Expresión Génica , Encéfalo/fisiopatología , Diferenciación Celular , Bases de Datos Factuales , Homeostasis , Análisis Multivariante , Neuronas/metabolismoRESUMEN
BACKGROUND: The information of gene expression obtained from databases, have made possible the extraction and analysis of data related with several molecular processes involving not only in brain homeostasis but its disruption in some neuropathologies; principally in Down syndrome and the Alzheimer disease. OBJECTIVE: To correlate the levels of transcription of 19 genes located in the Down Syndrome Critical Region (DSCR) with their expression in several substructures of normal human brain. METHODS: There were obtained expression profiles of 19 DSCR genes in 42 brain substructures, from gene expression values available at the database of the human brain of the Brain Atlas of the Allen Institute for Brain Sciences", (http://human.brain-map.org/). The co-expression patterns of DSCR genes in brain were calculated by using multivariate statistical methods. RESULTS: Highest levels of gene expression were registered at caudate nucleus, nucleus accumbens and putamen among central areas of cerebral cortex. Increased expression levels of RCAN1 that encode by a protein involved in signal transduction process of the CNS were recorded for PCP4 that participates in the binding to calmodulin and TTC3; a protein that is associated with differentiation of neurons. That previously identified brain structures play a crucial role in the learning process, in different class of memory and in motor skills. CONCLUSION: The precise regulation of DSCR gene expression is crucial to maintain the brain homeostasis, especially in those areas with high levels of gene expression associated with a remarkable process of learning and cognition.
INTRODUCCIÓN: La información de la expresión de genes consignada en bases de datos, ha permitido extraer y analizar información acerca procesos moleculares implicados tanto en la homeostasis cerebral y su alteración en algunas neuropatologías. OBJETIVOS: Correlacionar los niveles de transcripción de 19 genes localizados en la región crítica del cromosoma 21, asociada a Síndrome de Down (DSCR), con la localización cerebral y su coexpresión en diferentes subestructuras del cerebro humano. MÉTODOS: A partir de valores de expresión génica disponibles en la base de datos del proyecto cerebro humano del Atlas del Cerebro del "Allen Institute for Brain Sciences" (http://human.brain-map.org/), se construyeron perfiles de expresión de 19 genes DSCR en 42 subestructuras cerebrales. Además, utilizando métodos estadísticos multivariados se analizaron los patrones de coexpresión de genes DSCR en el cerebro normal. RESULTADOS: En el núcleo caudado, el núcleo accumbens y el putamen además de las Áreas centrales 2, 3 y 4, se determinaron los valores de expresión más elevados para los genes incluidos RCAN1, que codifica para una proteína involucrada en el proceso de transducción de señales de SNC; PCP4 cuya proteína interviene en la unión a la calmodulina y TTC3 una proteína que interviene en la diferenciación de neuronas. Las subestructuras identificadas con una elevada expresión de estos genes, están asociadas con procesos de aprendizaje, en diferentes tipos de memoria y habilidades motoras. CONCLUSIONES: La regulación de la expresión de los genes DSCR es clave para mantener la homeostasis cerebral, especialmente en aquellas áreas de mayor expresión, las cuales están asociadas con procesos sumamente importantes.