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1.
Bioelectrochemistry ; 159: 108741, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38810323

RESUMO

Greywater reuse has emerged as a promising solution for addressing water shortages. However, greywater needs treatment before reuse to meet the required water quality standards. Conventional wastewater treatment technologies are unsuitable for recreating highly decentralized domestic greywater. This study evaluated bioelectrochemical reactors (BERs) with granular activated carbon (GAC) as a sustainable alternative for developing decentralized and low-cost biological treatment systems. BERs using GAC as the anode material and conventional GAC biofilters (BFs) for synthetic greywater treatment were operated in batch mode for 110 days in two stages: (i) with polarized anodes at -150 mV vs. Ag/AgCl and (ii) as a microbial fuel cell with an external resistance of 1 kΩ. Anode polarization produced an electrosorption effect, increasing the ion removal of the BERs. Power production during the operation and cyclic voltammetry tests of the extracted granules revealed electrochemically active biofilm development on the BERs. Although low power density (0.193 ± 0.052 µW m-3) was observed in BERs, they showed a similar performance in sCOD removal (BER = 91.6-89.6 %; BF = 96.2-93.2 %) and turbidity removal (BER = 81-82 %; BF = 30-62 %) to BFs that used 50 % aeration. Additionally, scanning electron microscopy of sampled granules showed higher biomass formation in BER granules than in BF granules, suggesting a higher contribution of sessile (vs. planktonic) cells to the treatment. Thus, the results highlight the synergistic removal effect of the GAC-based BER. The scalable design presented in this study represents a proof-of-concept for developing BERs to use in decentralized greywater treatment systems.


Assuntos
Reatores Biológicos , Carvão Vegetal , Purificação da Água , Carvão Vegetal/química , Purificação da Água/métodos , Fontes de Energia Bioelétrica/microbiologia , Eletrodos , Águas Residuárias , Eliminação de Resíduos Líquidos/métodos , Biofilmes , Técnicas Eletroquímicas/métodos
2.
Artigo em Inglês | MEDLINE | ID: mdl-35206599

RESUMO

For many years, the world's coastal marine ecosystems have received industrial waste with high nitrogen concentrations, generating the eutrophication of these ecosystems. Different physicochemical-biological technologies have been developed to remove the nitrogen present in wastewater. However, conventional technologies have high operating costs and excessive production of brines or sludge which compromise the sustainability of the treatment. Microbial electrochemical technologies (METs) have begun to gain attention due to their cost-efficiency in removing nitrogen and organic matter using the metabolic capacity of microorganisms. This article combines a critical review of the environmental problems associated with the discharge of the excess nitrogen and the biological processes involved in its biogeochemical cycle; with a comparative analysis of conventional treatment technologies and METs especially designed for nitrogen removal. Finally, current METs limitations and perspectives as a sustainable nitrogen treatment alternative and efficient microbial enrichment techniques are included.


Assuntos
Desnitrificação , Nitrogênio , Reatores Biológicos , Ecossistema , Nitrogênio/metabolismo , Águas Residuárias
3.
Alzheimer Dis Assoc Disord ; 36(1): 29-35, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35149606

RESUMO

BACKGROUND: The Apolipoprotein E (APOE) gene is the main risk factor for late-onset Alzheimer disease (LOAD). Genetic variants and haplotypes in regions near the APOE locus may be associated with LOAD in the Colombian population. OBJECTIVE: We evaluated frequencies and risk of genetic variants and haplotypes in APOE, TOMM40, and APOC1 promoters, also in putative regulatory enhancer elements (TOMM40 IVS2-4 and TOMM40 IVS6), and in cis-regulatory elements (ME1 and BCR). MATERIALS AND METHODS: Our case-control association study was carried out in 50 patients with LOAD and 50 controls. We determined frequencies and odd ratios for genetic variants and haplotypes. RESULTS: We found a significant association between LOAD and genetic variants at the TOMM40 promoter, at TOMM40 IVS2-4 and TOMM40 IVS6 regulatory enhancer elements, and at the APOC1 promoter. Particularly, variants of Poly-T and APOC1 promoter could anticipate the age of onset of LOAD in our population. We identified three risk haplotypes in TOMM40 (ACGGAG, ACGGGG, and ATAGGC) related to LOAD's age of onset. We also found other risk or protection haplotypes at the TOMM40 and APOE promoters, at TOMM40 IVS2-4, TOMM40 IVS6 regulatory enhancer elements, and at ME1. CONCLUSION: Genetic variants and haplotypes near the APOE locus are related to LOAD risk and accelerated onset of LOAD in the Colombian population.


Assuntos
Doença de Alzheimer , Apolipoproteína C-I , Apolipoproteínas E , Proteínas do Complexo de Importação de Proteína Precursora Mitocondrial , Idade de Início , Apolipoproteína C-I/genética , Apolipoproteínas E/genética , Colômbia/epidemiologia , Predisposição Genética para Doença , Genótipo , Haplótipos , Humanos , Proteínas de Membrana Transportadoras/genética , Proteínas do Complexo de Importação de Proteína Precursora Mitocondrial/genética
4.
Mol Divers ; 26(5): 2443-2457, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34724138

RESUMO

A new series of 13 pyrazole-derivative compounds with potential antifungal activity were synthetized with good yields. The series have the (E)-2-((1-(R)-3,5-dimethyl-1H-pyrazol-4-yl)diazenyl)phenol general structure and were characterized by means of X-ray diffraction, UV-Vis, FTIR, 1H-NMR, 13C-NMR, and two-dimensional NMR experiments. This experimental characterization was complemented by DFT simulations. A deep insight regarding molecular reactivity was accomplished employing a conceptual DFT approach. In this sense, dual descriptors were calculated at HF and DFT level of theory and GGV spin-density Fukui functions. The main reactive region within the molecules was mapped through isosurface and condensed representations. Finally, chemical descriptors that have previously shown to be close related to biological activity were compared within the series. Thus, higher values of chemical potential ω and electrophilicity χ obtained for compounds 10, 9, 8, 6 and 7, in this order, suggest that these molecules are the better candidates as biological agents.


Assuntos
Antifúngicos , Pirazóis , Antifúngicos/farmacologia , Fatores Biológicos , Modelos Moleculares , Fenóis , Pirazóis/química , Pirazóis/farmacologia
5.
Front Genet ; 12: 671079, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34630506

RESUMO

In adulthood, the ability to digest lactose, the main sugar present in milk of mammals, is a phenotype (lactase persistence) observed in historically herder populations, mainly Northern Europeans, Eastern Africans, and Middle Eastern nomads. As the -13910∗T allele in the MCM6 gene is the most well-characterized allele responsible for the lactase persistence phenotype, the -13910C > T (rs4988235) polymorphism is commonly evaluated in lactase persistence studies. Lactase non-persistent adults may develop symptoms of lactose intolerance when consuming dairy products. In the Americas, there is no evidence of the consumption of these products until the arrival of Europeans. However, several American countries' dietary guidelines recommend consuming dairy for adequate human nutrition and health promotion. Considering the extensive use of dairy and the complex ancestry of Pan-American admixed populations, we studied the distribution of -13910C > T lactase persistence genotypes and its flanking haplotypes of European origin in 7,428 individuals from several Pan-American admixed populations. We found that the -13910∗T allele frequency in Pan-American admixed populations is directly correlated with allele frequency of the European sources. Moreover, we did not observe any overrepresentation of European haplotypes in the -13910C > T flanking region, suggesting no selective pressure after admixture in the Americas. Finally, considering the dominant effect of the -13910∗T allele, our results indicate that Pan-American admixed populations are likely to have higher frequency of lactose intolerance, suggesting that general dietary guidelines deserve further evaluation across the continent.

6.
Ann Neurol ; 90(3): 353-365, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34227697

RESUMO

OBJECTIVE: This work was undertaken in order to identify Parkinson's disease (PD) risk variants in a Latino cohort, to describe the overlap in the genetic architecture of PD in Latinos compared to European-ancestry subjects, and to increase the diversity in PD genome-wide association (GWAS) data. METHODS: We genotyped and imputed 1,497 PD cases and controls recruited from nine clinical sites across South America. We performed a GWAS using logistic mixed models; variants with a p-value <1 × 10-5 were tested in a replication cohort of 1,234 self-reported Latino PD cases and 439,522 Latino controls from 23andMe, Inc. We also performed an admixture mapping analysis where local ancestry blocks were tested for association with PD status. RESULTS: One locus, SNCA, achieved genome-wide significance (p-value <5 × 10-8 ); rs356182 achieved genome-wide significance in both the discovery and the replication cohorts (discovery, G allele: 1.58 OR, 95% CI 1.35-1.86, p-value 2.48 × 10-8 ; 23andMe, G allele: 1.26 OR, 95% CI 1.16-1.37, p-value 4.55 × 10-8 ). In our admixture mapping analysis, a locus on chromosome 14, containing the gene STXBP6, achieved significance in a joint test of ancestries and in the Native American single-ancestry test (p-value <5 × 10-5 ). A second locus on chromosome 6, containing the gene RPS6KA2, achieved significance in the African single-ancestry test (p-value <5 × 10-5 ). INTERPRETATION: This study demonstrated the importance of the SNCA locus for the etiology of PD in Latinos. By leveraging the demographic history of our cohort via admixture mapping, we identified two potential PD risk loci that merit further study. ANN NEUROL 2021;90:353-365.


Assuntos
Loci Gênicos/genética , Variação Genética/genética , Estudo de Associação Genômica Ampla/métodos , Hispânico ou Latino/genética , Doença de Parkinson/etnologia , Doença de Parkinson/genética , Adulto , Idoso , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/diagnóstico , Polimorfismo de Nucleotídeo Único/genética , América do Sul/etnologia
7.
Materials (Basel) ; 13(24)2020 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-33302415

RESUMO

The incorporation of a recycled concrete aggregate (RCA) as a replacement of natural aggregates (NA) in road construction has been the subject of recent research. This tendency promotes sustainability, but its use depends mainly on the final product's properties, such as chemical stability. This study evaluates the physical and chemical properties of RCAs from two different sources in comparison with the performance of NA. One RCA was obtained from the demolition of a building (recycled concrete aggregate of a building-RCAB) and another RCA from the rehabilitation of a Portland cement concrete pavement (recycled concrete aggregate from a pavement-RCAP). Characterization techniques such as X-ray fluorescence (XRF), X-ray diffraction (XRD), UV spectroscopy, and atomic absorption spectrometry were used to evaluate the RCAs' coarse fractions for chemical potential effects on asphalt mixtures. NA was replaced with RCA at 15%, 30%, and 45% for each size of the coarse fractions (retained 19.0, 12.5, 9.5, and 4.75 sieves in mm). The mineralogical characterization results indicated the presence of quartz (SiO2) and calcite (CaCO3) as the most significant constituents of the aggregates. XFR showed that RCAs have lower levels of CaO and Al2O3 concerning NA. Potential reactions in asphalt mixtures by nitration, sulfonation, amination of organic compounds, and reactions by alkaline activation in the aggregates were discarded due to the minimum concentration of components such as NO2, (-SO3H), (-SO2Cl), and (Na) in the aggregates. Finally, this research concludes that studied RCAs might be used as replacements of coarse aggregate in asphalt mixtures since chemical properties do not affect the overall chemical stability of the asphalt mixture.

8.
Mech Ageing Dev ; 192: 111360, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32976914

RESUMO

Recently, mutations in the RNA polymerase III subunit A (POLR3A) have been described as the cause of the neonatal progeria or Wiedemann-Rautenstrauch syndrome (WRS). POLR3A has important roles in transcription regulation of small RNAs, including tRNA, 5S rRNA, and 7SK rRNA. We aim to describe the cellular and molecular features of WRS fibroblasts. Cultures of primary fibroblasts from one WRS patient [monoallelic POLR3A variant c.3772_3773delCT (p.Leu1258Glyfs*12)] and one control patient were cultured in vitro. The mutation caused a decrease in the expression of wildtype POLR3A mRNA and POLR3A protein and a sharp increase in mutant protein expression. In addition, there was an increase in the nuclear localization of the mutant protein. These changes were associated with an increase in the number and area of nucleoli and to a high increase in the expression of pP53 and pH2AX. All these changes were associated with premature senescence. The present observations add to our understanding of the differences between Hutchinson-Gilford progeria syndrome and WRS and opens new alternatives to study cell senesce and human aging.


Assuntos
Retardo do Crescimento Fetal , Fibroblastos , Progéria , RNA Polimerase III , Proteína Supressora de Tumor p53/metabolismo , Nucléolo Celular/fisiologia , Células Cultivadas , Senescência Celular/fisiologia , Dano ao DNA , Retardo do Crescimento Fetal/genética , Retardo do Crescimento Fetal/patologia , Fibroblastos/fisiologia , Fibroblastos/ultraestrutura , Expressão Gênica , Humanos , Mutação , Progéria/genética , Progéria/patologia , RNA Polimerase III/genética , RNA Polimerase III/metabolismo , RNA Ribossômico 5S/metabolismo
9.
Biomedica ; 39(3): 595-600, 2019 09 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31584772

RESUMO

Introduction: The HapMap and the 1000 Genomes projects have been important for understanding the genetic component of common diseases and normal phenotypes. However, the Colombian genetic variability included in these projects is not fully representative of our country. Objective: To contribute to the knowledge of the Colombian genetic variability through the genomic study of a sample of individuals from Bogotá. Materials and methods: A total of 2,372,784 genetic markers were genotyped in 32 individuals born in Bogotá whose parents are from the same region, using the Illumina™ platform. The genetic variability levels were determined and compared with the data available from other populations of the 1000 Genomes Project. Results: The genetic variability detected in the individuals from Bogotá was similar to those with shared ancestry. However, despite the low levels of genetic differentiation between Bogotá and Medellín, populations the principal component analysis suggested a different genetic composition in them. Conclusions: Our genomic analysis of a Bogotá sample allowed us to detect similarities and differences with other American populations. The increase of the Bogotá sample and the inclusion of samples from other regions of the country will improve our understanding of the genetic variability in Colombia, essential for studies of human health and the prevention and treatment of common diseases in our country.


Introducción. Los proyectos del mapa de haplotipos (HapMap) y de los 1.000 genomas han sido fundamentales para la compresión del componente genético de las enfermedades comunes y los fenotipos normales. Sin embargo, la variabilidad genética colombiana incluida en estos proyectos no es representativa del país. Objetivo. Contribuir al conocimiento de la variabilidad genética de la población colombiana a partir del estudio genómico de una muestra de individuos de Bogotá. Materiales y métodos. Se genotipificaron 2'372.784 marcadores genéticos de 32 individuos nacidos en Bogotá y de padres originarios de la misma ciudad utilizando la plataforma Illumina™. Los niveles de variabilidad genética se determinaron y se compararon con los datos disponibles de otras poblaciones del proyecto de los 1.000 genomas. Resultados. Los individuos analizados presentaron una variabilidad genética semejante a la de poblaciones con las que comparten ancestros. No obstante, a pesar de la poca diferenciación genética detectada en la población de Bogotá y en la de Medellín, el análisis de los componentes principales sugiere una composición genética diferente en las dos poblaciones. Conclusiones. El análisis genómico de la muestra de Bogotá permitió detectar similitudes y diferencias con otras poblaciones americanas. El aumento de tamaño de la muestra bogotana y la inclusión de muestras de otras regiones del país permitirán una mejor compresión de la variabilidad genética en Colombia, lo cual es fundamental para los estudios de salud humana, y la prevención y el tratamiento de enfermedades comunes en el país.


Assuntos
Marcadores Genéticos , Variação Genética , Haplótipos , Indígena Americano ou Nativo do Alasca/genética , Povo Asiático/genética , População Negra/genética , Cidades/etnologia , Colômbia/etnologia , Feminino , Projeto Genoma Humano , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , População Branca/genética
10.
Biomédica (Bogotá) ; Biomédica (Bogotá);39(3): 595-600, jul.-set. 2019. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1038818

RESUMO

Resumen Introducción. Los proyectos del mapa de haplotipos (HapMap) y de los 1.000 genomas han sido fundamentales para la compresión del componente genético de las enfermedades comunes y los fenotipos normales. Sin embargo, la variabilidad genética colombiana incluida en estos proyectos no es representativa del país. Objetivo. Contribuir al conocimiento de la variabilidad genética de la población colombiana a partir del estudio genómico de una muestra de individuos de Bogotá. Materiales y métodos. Se genotipificaron 2'372.784 marcadores genéticos de 32 individuos nacidos en Bogotá y de padres originarios de la misma ciudad utilizando la plataforma Illumina™. Los niveles de variabilidad genética se determinaron y se compararon con los datos disponibles de otras poblaciones del proyecto de los 1.000 genomas. Resultados. Los individuos analizados presentaron una variabilidad genética semejante a la de poblaciones con las que comparten ancestros. No obstante, a pesar de la poca diferenciación genética detectada en la población de Bogotá y en la de Medellín, el análisis de los componentes principales sugiere una composición genética diferente en las dos poblaciones. Conclusiones. El análisis genómico de la muestra de Bogotá permitió detectar similitudes y diferencias con otras poblaciones americanas. El aumento de tamaño de la muestra bogotana y la inclusión de muestras de otras regiones del país permitirán una mejor compresión de la variabilidad genética en Colombia, lo cual es fundamental para los estudios de salud humana, y la prevención y el tratamiento de enfermedades comunes en el país.


Abstract Introduction: The HapMap and the 1000 Genomes projects have been important for understanding the genetic component of common diseases and normal phenotypes. However, the Colombian genetic variability included in these projects is not fully representative of our country. Objective: To contribute to the knowledge of the Colombian genetic variability through the genomic study of a sample of individuals from Bogotá. Materials and methods: A total of 2,372,784 genetic markers were genotyped in 32 individuals born in Bogotá whose parents are from the same region, using the Illumina™ platform. The genetic variability levels were determined and compared with the data available from other populations of the 1000 Genomes Project. Results: The genetic variability detected in the individuals from Bogotá was similar to those with shared ancestry. However, despite the low levels of genetic differentiation between Bogotá and Medellín, populations the principal component analysis suggested a different genetic composition in them. Conclusions: Our genomic analysis of a Bogotá sample allowed us to detect similarities and differences with other American populations. The increase of the Bogotá sample and the inclusion of samples from other regions of the country will improve our understanding of the genetic variability in Colombia, essential for studies of human health and the prevention and treatment of common diseases in our country.


Assuntos
Feminino , Humanos , Masculino , Variação Genética , Haplótipos , Marcadores Genéticos , Projeto Genoma Humano , Cidades/etnologia , Colômbia/etnologia , Polimorfismo de Nucleotídeo Único , População Negra/genética , Indígena Americano ou Nativo do Alasca/genética , Povo Asiático/genética , População Branca/genética
11.
Alzheimer Dis Assoc Disord ; 33(4): 321-326, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31335457

RESUMO

INTRODUCTION: Late-onset Alzheimer disease (LOAD) is the most common dementia worldwide. APOE-[Latin Small Letter Open E]4 and BIN1 (Bridging Integrator 1) have been implicated in the pathogenesis of this disease, but, although DNA methylation of dinucleotide CpGs in the BIN1 gene influences alterations, it has not been studied in Hispanics. OBJECTIVE: The objective of this study was to evaluate the BIN1 3' intergenic region DNA methylation patterns in a Colombian sample of LOAD patients. METHODS: A case-control study was conducted in 50 individuals with LOAD and 50 age-sex matched controls to determine associations of LOAD with DNA methylation. DNA was isolated from peripheral blood, and methylation levels of 8 CpGs were estimated by bisulfite conversion followed by Sanger sequencing with direct PCR analysis. Logistic regression models adjusted by age, sex, and APOE were used to calculate risk associations between methylation levels and LOAD. RESULTS: Overall, participants with LOAD had significantly lower methylation levels on CpG26 (0.86±0.11 vs. 0.95±0.05; P>0.001), CpG44 (0.84±0.09 vs. 0.94±0.06; P=0.001), and CpG87 (0.64±0.12 vs. 0.82±0.10; P>0.001). Adjusted regression models showed that decreased methylation levels of these CpGs remained as risk factors for LOAD (P<0.05). CONCLUSIONS: Hypomethylation of CpGs in BIN1 might play an important role in the expression of BIN1 and may be a biomarker for identifying individuals at high risk of developing LOAD.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Doença de Alzheimer/genética , Metilação de DNA/genética , Fosfatos de Dinucleosídeos/genética , Predisposição Genética para Doença , Proteínas Nucleares/genética , Proteínas Supressoras de Tumor/genética , Idoso , Apolipoproteína E4/genética , Estudos de Casos e Controles , Colômbia , Fosfatos de Dinucleosídeos/sangue , Feminino , Humanos , Transtornos de Início Tardio/genética , Masculino
12.
Chem Biol Drug Des ; 93(6): 1117-1128, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30693676

RESUMO

In recent years, the design, development, and evaluation of several inhibitors of the BACE1 enzyme, as part of Alzheimer's treatment, have gathered the scientific community's interest. Here, a linear regression model was built using binding free energy calculations through the Bennett acceptance ratio method for 20 known inhibitors of the BACE1 enzyme, with a Pearson coefficient of R = 0.88 and R2  = 0.78. The validation of this model was verified employing eight additional random inhibitors, which also gave a linear correlation with R = 0.97 and R2  = 0.93. Furthermore, this linear regression model was also used for proposing the structure of four potential BACE1 inhibitors, and the most active of them gave a theoretical Kd  = 10 nM. However, these molecules have not been synthesized yet. Our team used a total time of more than 800 ns for the Molecular Dynamics to carry out this study, and all the software used were freely available.


Assuntos
Secretases da Proteína Precursora do Amiloide/antagonistas & inibidores , Ácido Aspártico Endopeptidases/antagonistas & inibidores , Desenho de Fármacos , Modelos Teóricos , Inibidores de Proteases/farmacologia , Secretases da Proteína Precursora do Amiloide/metabolismo , Ácido Aspártico Endopeptidases/metabolismo , Ligantes , Simulação de Acoplamento Molecular , Simulação de Dinâmica Molecular , Inibidores de Proteases/metabolismo , Reprodutibilidade dos Testes
13.
Alzheimer Dis Assoc Disord ; 32(4): 305-308, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30222607

RESUMO

OBJECTIVE: We evaluated the association of several single-nucleotide polymorphisms in the triggering receptor expressed on myeloid cells 2 (TREM2) gene in a Colombian sample of late-onset Alzheimer disease (LOAD). METHODS: The p.Q33* (rs104894002), p.R47H (rs75932628), p.R62H (rs143332484), and p.D87N (rs142232675) variants of TREM2 gene were directly genotyped using KASPar technology in 358 cases and 329 healthy controls. Sanger sequencing was used to validate >10% of KASPar's results. The Fisher exact test was used to compare the distribution of allelic and genotype frequency between cases and controls, and the Bonferroni correction was set at P<0.05. RESULTS: The minor allele frequency of rs75932628-T was 0.009 in cases and was not found in any healthy controls which suggests a significant association between rs75932628-T and LOAD risk in our sample (P=0.010). The rs143332484-T variant did not exhibit a significant association (P=0.160), whereas rs104894002 and rs142232675 were not found. CONCLUSIONS: Our findings suggest that the rs75932628-T variant of TREM2 is an important risk factor for LOAD in the Colombian population.


Assuntos
Doença de Alzheimer/genética , Predisposição Genética para Doença , Variação Genética , Genótipo , Glicoproteínas de Membrana/genética , Receptores Imunológicos/genética , Colômbia , Feminino , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Fatores de Risco
14.
Biomedica ; 38(0): 86-92, 2018 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-29874711

RESUMO

Introduction: Gliomas are the most common primary tumors of the central nervous system and, according to their malignancy, they are graded from I to IV. Recent studies have found that there is an association between gliomas and mutations in exon 4 of genes that codify for isocitrate dehydrogenases 1 and 2 (IDH1: codon 132; IDH2: codon 172). Objective: To establish the frequency of mutations in IDH1 and IDH2 in a sample of gliomas from Colombian population. Materials and methods: DNA was extracted from tumor tissue. The exon 4 of IDH1 and IDH2 was amplified by PCR using specific primers and subsequently sequenced. Mutations were determined using the 4Peaks MAFFT programs. Results: We found mutations in the IDH1 gene in 34% of the glioma samples, with a predominance of the nonsynonymous mutation R132H. Mutations in the IDH2 gene were found in 7.5% of cases, with a predominance of the nonsynonymous R172K and R172W mutations. Conclusions: The frequency of mutations in the IDH1 and IDH2 genes in the sample was similar to that reported in other studies. The analysis of these mutations may be important to establish prognostic factors and for the development of future therapeutic targets in gliomas.


Assuntos
Neoplasias do Sistema Nervoso Central/genética , Glioma/genética , Isocitrato Desidrogenase/genética , Mutação , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Colômbia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
15.
Biomédica (Bogotá) ; Biomédica (Bogotá);38(supl.1): 86-92, mayo 2018. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-950957

RESUMO

Resumen Introducción. Los gliomas son los tumores primarios más comunes del sistema nervioso central y se clasifican de I a IV según su grado de malignidad. En recientes investigaciones se ha encontrado que su aparición está relacionada con mutaciones en el exón 4 de los genes que codifican las deshidrogenasas de isocitrato 1 y 2 (IDH1: codón 132; IDH2: codón 172). Objetivo. Determinar la frecuencia de mutaciones en los genes IDH1 e IDH2 en una muestra de gliomas de pacientes colombianos. Materiales y métodos. La extracción de ADN se hizo a partir de tejido tumoral. El exón 4 de los genes IDH1 e IDH2 se amplificó mediante PCR utilizando iniciadores específicos y, posteriormente, se secuenciaron. Para la determinación de las mutaciones, se emplearon los programas 4Peaksy MAFFT. Resultados. Se determinó la presencia de mutaciones en el gen IDH1 en el 34 % de las muestras, con predominio de la mutación no sinónima R132H. En el 7,5 % de los casos se detectaron mutaciones en el gen IDH2, principalmente las mutaciones no sinónimas R172K y R172W. Conclusiones. La frecuencia de mutaciones en los genes IDH1 e IDH2 en la muestra fue similar a la reportada en otros estudios. El análisis de estas mutaciones puede ser importante como factor pronóstico y para su uso como potenciales blancos terapéuticos en gliomas.


Abstract Introduction: Gliomas are the most common primary tumors of the central nervous system and, according to their malignancy, they are graded from I to IV. Recent studies have found that there is an association between gliomas and mutations in exon 4 of genes that codify for isocitrate dehydrogenases 1 and 2 (IDH1: codon 132; IDH2: codon 172). Objective: To establish the frequency of mutations in IDH1 and IDH2 in a sample of gliomas from Colombian population. Materials and methods: DNA was extracted from tumor tissue. The exon 4 of IDH1 and IDH2 was amplified by PCR using specific primers and subsequently sequenced. Mutations were determined using the 4Peaks MAFFT programs. Results: We found mutations in the IDH1 gene in 34% of the glioma samples, with a predominance of the nonsynonymous mutation R132H. Mutations in the IDH2 gene were found in 7.5% of cases, with a predominance of the nonsynonymous R172K and R172W mutations. Conclusions: The frequency of mutations in the IDH1 and IDH2 genes in the sample was similar to that reported in other studies. The analysis of these mutations may be important to establish prognostic factors and for the development of future therapeutic targets in gliomas.


Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Neoplasias do Sistema Nervoso Central/genética , Glioma/genética , Isocitrato Desidrogenase/genética , Mutação , Colômbia
16.
Cuad. méd.-soc. (Santiago de Chile) ; 58(1): 19-26, mar. 2018.
Artigo em Espanhol | HISA - História da Saúde | ID: his-42841

RESUMO

El artículo comienza por identificar los requisitos para pensar en una política de salud e intentar construir un diagrama de las etapas de un proceso de planificación en salud. Presenta algunas notas de nustra chilean memory, eventos más relevantes y marcos de la política de salud en cada estadio firmado. Reflexionar sobre la influencia del contexto civico-militar de la ditadura, comentando los sétimos dias de salud de Chile, finalizando con conclusiones sobre qué hacer en la política de salud de Chile.


Assuntos
Política de Saúde , Chile
17.
Rev. colomb. psiquiatr ; 46(4): 222-228, oct.-dic. 2017. tab
Artigo em Espanhol | LILACS, COLNAL | ID: biblio-960142

RESUMO

Resumen Introducción: El trastorno por déficit de atención e hiperactividad (TDAH) es una perturbación con elevada prevalencia en población infantil de Bogotá. Entre las causas de este trastorno se encuentran factores genéticos y ambientales, pero pocos estudios han tratado de abordar el componente genético en población colombiana. Objetivos: Realizar un estudio de asociación genética entre diferentes polimorfismos y el TDAH en la población de Bogotá. Métodos: Múltiples polimorfismos de los genes DAT1, SERT, COMT y BDNF fueron genotipificados empleando las técnicas de PCR convencional y RFLP en 97 tríos de Bogotá. El test de desequilibrio de trasmisión (TDT) se empleó para determinar la asociación entre las diferentes variantes y el TDAH. Resultados: El análisis de TDT no identificó una transmisión preferencial de alelos de ninguna de las variantes estudiadas. Conclusiones: Nuestros resultados indican que la etiología del TDAH es heterogénea e involucra diversos factores genéticos. Futuros estudios enfocados en otros polimorfismos candidatos en una muestra más grande ayudarán a comprender el TDAH en la población colombiana.


Abstract Background: Attention deficit and hyperactive disorder (ADHD) is highly prevalent among children in Bogota City. Both genetic and environmental factors play a very important role in the etiology of ADHD. However, to date few studies have addressed the association of genetic variants and ADHD in the Colombian population. Objectives: To test the genetic association between polymorphisms in the DAT1, HTTLPR, COMT and BDNF genes and ADHD in a sample from Bogota City. Methods: We genotyped the most common polymorphisms in DAT1, SERT, COMT and BDNF genes associated with ADHD using conventional PCR followed by restriction fragment length polymorphism (RFLP) in 97 trios recruited in a medical center in Bogota. The transmission disequilibrium test (TDT) was used to determine the association between such genetic variants and ADHD. Results: The TDT analysis showed that no individual allele of any variant studied has a preferential transmission. Conclusions: Our results suggest that the etiology of the ADHD maybe complex and involves several genetic factors. Further studies in other candidate polymorphisms in a larger sample size will improve our knowledge of the ADHD in Colombian population.


Assuntos
Humanos , Masculino , Criança , Transtorno do Deficit de Atenção com Hiperatividade , Genética , Jogos e Brinquedos , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Colômbia , Fator Neurotrófico Derivado do Encéfalo , Conhecimento , Genes
18.
Rev Colomb Psiquiatr ; 46(4): 222-228, 2017.
Artigo em Espanhol | MEDLINE | ID: mdl-29122229

RESUMO

BACKGROUND: Attention deficit and hyperactive disorder (ADHD) is highly prevalent among children in Bogota City. Both genetic and environmental factors play a very important role in the etiology of ADHD. However, to date few studies have addressed the association of genetic variants and ADHD in the Colombian population. OBJECTIVES: To test the genetic association between polymorphisms in the DAT1, HTTLPR, COMT and BDNF genes and ADHD in a sample from Bogota City. METHODS: We genotyped the most common polymorphisms in DAT1, SERT, COMT and BDNF genes associated with ADHD using conventional PCR followed by restriction fragment length polymorphism (RFLP) in 97 trios recruited in a medical center in Bogota. The transmission disequilibrium test (TDT) was used to determine the association between such genetic variants and ADHD. RESULTS: The TDT analysis showed that no individual allele of any variant studied has a preferential transmission. CONCLUSIONS: Our results suggest that the etiology of the ADHD may be complex and involves several genetic factors. Further studies in other candidate polymorphisms in a larger sample size will improve our knowledge of the ADHD in Colombian population.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Fator Neurotrófico Derivado do Encéfalo/genética , Catecol O-Metiltransferase/genética , Proteínas da Membrana Plasmática de Transporte de Dopamina/genética , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Adolescente , Criança , Colômbia , Feminino , Predisposição Genética para Doença , Variação Genética , Genótipo , Humanos , Masculino , Reação em Cadeia da Polimerase , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição
19.
Alzheimer Dis Assoc Disord ; 30(4): 305-309, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27023435

RESUMO

OBJECTIVE: We evaluated the association of several single-nucleotide polymorphisms in different genes including APOE, TOMM40, CR1, PVRL2, SORL1, PICALM, and GWA_14q32.13 in a Colombian sample of Late-Onset Alzheimer disease (LOAD) patients. METHODS: A case-control study was conducted in 362 individuals (181 LOADs and 181 controls) to determine the association of single-nucleotide polymorphisms in APOE (e2, e3, and e4), TOMM40 (rs2075650), CR1 (rs665640), PVRL2 (rs6859), SORL1 (rs11218304), PICALM (rs3851179), and GWA_14q32.13 (rs11622883) with LOAD in a sample from Colombia. RESULTS: We were able to confirm the previously reported association of the APOE4 allele with AD. In addition, we report a new significant association with rs2075650 of TOMM40 for LOAD in our sample. We did not detect any significant interaction between TOMM40 and APOE4 carriers (heterozygous or homozygous) for disease risk development. However, Kaplan-Meier survival analyses suggest that AD patients with TOMM40 allele rs2075650-G have an average age of disease onset of 6 years earlier compared with carriers of the A allele. In addition, the age of disease onset is earlier if APOE4/4 is present. CONCLUSION: Our findings suggest that rs2075650 of TOMM40 could be involved in earlier presentation of LOAD in the Colombian population.


Assuntos
Doença de Alzheimer/genética , Proteínas de Membrana Transportadoras/genética , Nectinas/genética , Polimorfismo de Nucleotídeo Único/genética , Receptores de Complemento 3b/genética , Idoso , Alelos , Apolipoproteína E4/genética , Estudos de Casos e Controles , Colômbia , Feminino , Predisposição Genética para Doença/genética , Genótipo , Humanos , Masculino , Proteínas do Complexo de Importação de Proteína Precursora Mitocondrial
20.
Acta Crystallogr C Struct Chem ; 71(Pt 12): 1106-13, 2015 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-26632840

RESUMO

The compounds (2'E,2'E)-2,2'-(propane-1,2-diylidene)bis[1-(2-nitrophenyl)hydrazine], C15H14N6O4, (I), and (2Z,3Z)-ethyl 3-[2-(2-nitrophenyl)hydrazinylidene]-2-[2-(4-nitrophenyl)hydrazinylidene]butanoate tetrahydrofuran hemisolvate, C18H18N6O6·0.5C4H8O, (II), are puzzling outliers deviating from a general synthetic route aimed at the preparation of substituted pyrazoles. Possible reasons for this outcome, which is exceptional in an otherwise firmly established synthetic procedure, are analyzed. Compound (I) is unsolvated, while compound (II) crystallizes with a tetrahydrofuran solvent molecule lying on an inversion centre. The ethoxycarbonyl chain of (II), in turn, appears disordered into two equally populated (50%) moieties. In both structures, a plethora of different commonly occurring weak intermolecular interactions [viz. π(phenyl)...π(phenyl), π(C=N)...π(C=N), π(phenyl)...π(C=N), N-H...O and C-H...O] appear responsible for the crystal stability. Much less common are the short O(nitro)...O(nitro) contacts which are observed in the structure of (I), an example of unusual `electron donor-acceptor' (EDA) interactions.

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