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Texto completo SciELO Chile
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Id: lil-743765
Autor: Jaramillo, Priscilla C; Fuentes, Katterina; Cortés, Carla; Cisternas, Carlos; Salazar, Luis A.
Título: Análisis de la interacción entre el polimorfismo Rs671 del gen ALDH2 y consumo de alcohol en individuos chilenos / Interaction between Rs671 polymorphism of the ALDH2 gene and alcohol consumption in Chilean individuals
Fonte: Int. j. morphol;33(1):68-72, Mar. 2015. ilus.
Idioma: es.
Projeto: Universidad Santo Tomás.
Resumo: El alcoholismo es un importante problema de salud pública. En los últimos años ha causado interés el metabolismo del alcohol, puesto que ha sido considerado un posible determinante biológico en la conducta de consumo. Variados estudios se han orientado a la búsqueda y comprensión de la influencia de polimorfismos, en genes que codifican para los principales sistemas enzimáticos que intervienen en el metabolismo hepático. El polimorfismo rs671 del gen que codifica la enzima ALDH2 ha sido asociado a un menor consumo de alcohol debido a la acumulación de acetaldehído en sangre. Diversos estudios indican que este polimorfismo es frecuente en países asiáticos y se considera un factor protector en los individuos que lo portan. Se incluyeron 207 individuos adultos no relacionados, a los cuales se les aplicó un cuestionario sobre consumo de alcohol. El polimorfismo rs671 fue analizado por la reacción de la polimerasa en cadena (PCR) seguida de restricción enzimática. Además, se determinaron los biomarcadores clásicos indirectos de consumo de alcohol, mediante técnicas enzimáticas y hematológicas. La frecuencia del genotipo homocigoto mutado AA para el polimorfismo rs671 fue 3,0% en sujetos consumidores de alcohol y 2,8% en el grupo no consumidor. La distribución de genotipos y las frecuencias alélicas para esta variante fueron semejantes entre los sujetos estudiados (p>0,05). Estos hallazgos sugieren que la variante rs671 del gen ALDH2 no está asociada al oconsumo de alcohol en los individuos estudiados.

Alcoholism is an important public health problem. In recent years, alcohol metabolism caused interest, since it has been considered a possible biological determinant of alcohol consumption behavior. Several studies have focused on finding and understanding the influence of polymorphisms affecting genes that encode for enzymatic systems involved in the hepatic metabolism. The rs671 polymorphism of the gene encoding ALDH2 has been associated with lower alcohol consumption by leading to acetaldehyde accumulation in blood. This genetic variant is frequently found in Asian population and has been considered as protector factor of alcoholism in these individuals. In the present study, 207 unrelated-adult individuals were included. Alcohol consumption was recorded using a structured questionnaire. The rs671 polymorphism was analyzed using polymerase chain reaction followed by enzymatic digestion. Furthermore, classical biomarkers for alcohol consumption were assessed using enzymatic and hematological techniques. The frequency of homozygote genotype for the A allele (AA) was 3 and 2.8% in those subjects defined as alcohol drinkers and non-alcohol drinkers respectively. The genotypes distribution and allelic frequencies were similar among the studied subject (p>0.05). These data suggest that rs671 ALDH2 gene polymorphism is not associated to alcohol consumption in the studied population.
Descritores: Polimorfismo de Nucleotídeo Único
Alcoolismo/genética
Aldeído Desidrogenase/genética
-Polimorfismo Genético
Marcadores Genéticos
Chile
Reação em Cadeia da Polimerase
Inquéritos e Questionários
Alcoolismo/enzimologia
Alcoolismo/psicologia
Aldeído Desidrogenase/metabolismo
Limites: Humanos
Masculino
Feminino
Adulto
Pessoa de Meia-Idade
Idoso
Responsável: CL1.1 - Biblioteca Central


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Id: lil-774951
Autor: Mendez, Claudia; Rey, Mauricio.
Título: Characterization of polymorphisms of genes ADH2, ADH3, ALDH2 and CYP2E1 and relationship to the alcoholism in a Colombian population / Caracterización de polimorfismos de los genes ADH2, ADH3, ALDH2 y CYP2E1 y su relación con el alcoholismo en una población colombiana
Fonte: Colomb. med;46(4):176-182, Oct.-Dec. 2015. ilus.
Idioma: en.
Resumo: Objective: Identify and characterize polymorphisms of genes ADH2, ADH3, ALDH2 and CYP2E1 in a Colombian population residing in the city of Bogotá and determine its possible relationship to the alcoholism. Methods: ADH2, ADH3, ALDH2, and CYP2E1 genotypes a population of 148 individuals with non-problematic alcohol and 65 individuals with alcoholism were determined with TaqMan probes and PCR-RFLP. DNA was obtained from peripheral blood white cells. Results: Significant difference was found in family history of alcoholism and use of other psychoactive substances to compare alcoholics with controls. When allelic frequencies for each category (gender) were considered, frequency of A2 allele carriers in ADH2 was found higher in male patients than controls. In women, the relative frequency for c1 allele in CYP2E1 was lower in controls than alcoholics. The ALDH2 locus is monomorphic. No significant differences in allele distributions of the loci examined to compare two populations were observed, however when stratifying the same trend was found that these differences tended to be significant. Conclusions: This study allows us to conclude the positive association between family history of alcoholism and alcoholism suggesting that there is a favourable hereditary predisposition. Since substance dependence requires interaction of multiple genes, the combination of genotypes ADH2*2, CYP2E1*1 combined with genotype homozygous ALDH2*1 found in this study could be leading to the population to a potential risk to alcoholism.

Objetivo: Identificar y caracterizar los polimorfismos de los genes ADH2, ADH3, ALDH2 y CYP2E1 de colombianos residentes en la ciudad de Bogotá y determinar su posible relación con el alcoholismo. Métodos: Se determinaron los genotipos ADH2, ADH3, ALDH2 y CYP2E1 a una población de 148 individuos con un consumo no problemático de alcohol y 65 individuos con alcoholismo. La genotipificación se realizó con sondas TaqMan y PCR-RFLP, el ADN se obtuvo de células blancas de sangre periférica. Resultados: Se encontró diferencia significativa en la historia familiar de alcoholismo y el uso de otras sustancias psicoactivas. Cuando se consideraron frecuencias alélicas para cada categoría (género), la frecuencia de portadores del alelo A2 en ADH2 se encontró mayor en los pacientes masculinos que los controles. En las mujeres, la frecuencia relativa para el alelo C1 de CYP2E1 fue menor en controles que en alcohólicos. El locus ALDH2 es monomórfico. No se observaron diferencias significativas en las distribuciones alélicas de los loci examinadas al comparar las dos poblaciones, sin embargo al estratificar las mismas se encontró una tendencia a que esas diferencias fueran significativas. Conclusiones: Este estudio nos permite concluir la asociación positiva entre historia familiar de alcoholismo y el alcoholismo, lo que sugiere que existe una predisposición hereditaria favorable. Dado que la dependencia de sustancias requiere la interacción de múltiples genes como ADH2*2, CYP2E1*1 combinado con el genotipo homocigótico ALDH2*1 hallados en este estudio podría estar llevando a la población a un riesgo potencial hacia el alcoholismo.
Descritores: Álcool Desidrogenase/genética
Alcoolismo/genética
Aldeído Desidrogenase/genética
/genética
CYTOCHROME P-ALDEHYDES CYPTEMEFOSE1/genética
Polimorfismo Genético
-Estudos de Casos e Controles
Colômbia
Família
Frequência do Gene
Predisposição Genética para Doença
Genótipo
Transtornos Relacionados ao Uso de Substâncias/genética
Limites: Adulto
Feminino
Humanos
Masculino
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: CO332 - Facultad de Medicina


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Texto completo SciELO Chile
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Id: lil-745629
Autor: Valdivia, Mario; Silva, Daniel; Sanhueza, Félix; Cova, Félix; Melipillán, Roberto.
Título: Prevalencia de intento de suicidio adolescente y factores de riesgo asociados en una comuna rural de la provincia de Concepción / Suicide attempts among Chilean adolescents
Fonte: Rev. méd. Chile;143(3):320-328, mar. 2015. tab.
Idioma: es.
Projeto: Universidad de Concepción. dirección de investigación.
Resumo: Background: Suicide mortality rates are increasing among teenagers. Aim: To study the prevalence and predictive factors of suicide attempts among Chilean adolescents. Material and Methods: A random sample of 195 teenagers aged 16 ± 1 years (53% males) answered an anonymous survey about their demographic features, substance abuse, the Osaka suicidal ideation questionnaire, Smilksten familial Apgar. Beck hopelessness scale, Beck depression scale and Coppersmith self-esteem inventory. Results: Twenty five percent of respondents had attempted suicide at least in one occasion during their lives. These attempts were significantly associated with female gender, absent parents, family dysfunction, drug abuse, smoking, low self-esteem, hopelessness, depression and recent suicidal ideation. A logistic regression analysis accepted female gender, smoking and recent suicidal ideation as significant independent predictors of suicide attempt. Conclusions: Suicide attempted is common among teenagers and its predictors are female sex, smoking and previous suicidal ideation.
Descritores: Acetaldeído/metabolismo
Aldeído Desidrogenase/genética
Aldeído Desidrogenase/metabolismo
Embrião de Mamíferos/metabolismo
Etanol/toxicidade
Proteína do Grupo de Complementação A da Anemia de Fanconi/genética
Anemia de Fanconi/patologia
-Animais Recém-Nascidos
Acetaldeído/toxicidade
Modelos Animais de Doenças
Dano ao DNA
Embrião de Mamíferos/embriologia
Genoma
Células-Tronco Hematopoéticas/metabolismo
Isoenzimas/genética
Isoenzimas/metabolismo
MICE, INBRED CABDOMENABDOMINAL INJURIESBL
Retinal Desidrogenase/genética
Retinal Desidrogenase/metabolismo
Limites: Animais
Feminino
Humanos
Camundongos
Gravidez
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: CL1.1 - Biblioteca Central


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Texto completo SciELO Brasil
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Id: lil-675756
Autor: Tiezzi, Daniel Guimarães; Clagnan, Willian Simões; Mandarano, Larissa Raquel Mouro; de Sousa, Christiani Bisinoto; Marana, Heitor Ricardo Cosiski; Tiezzi, Marcelo Guimarães; de Andrade, Jurandyr Moreira.
Título: Expression of aldehyde dehydrogenase after neoadjuvant chemotherapy is associated with expression of hypoxia-inducible factors 1 and 2 alpha and predicts prognosis in locally advanced breast cancer
Fonte: Clinics;68(5):592-598, maio 2013. tab, graf.
Idioma: en.
Projeto: FAPESP.
Resumo: OBJECTIVE: To analyze the expression of hypoxia-inducible factors (hypoxia-inducible factor 1A and hypoxia-inducible factor 2A) and aldehyde dehydrogenase proteins in patients with locally advanced breast carcinoma who were subjected to neoadjuvant chemotherapy. METHODS: We included 90 patients with histologically confirmed stage II and III breast carcinoma who were treated with neoadjuvant chemotherapy between 2000 and 2005. Immunohistochemistry for aldehyde dehydrogenase, hypoxia-inducible factor 1A, and hypoxia-inducible factor 2A was performed before and after neoadjuvant chemotherapy. We analyzed the influence of clinical and pathological features on clinical and pathological response, disease-free survival, and overall survival. RESULTS: An objective clinical response to neoadjuvant chemotherapy was observed in 80% of patients, with 12% showing a complete pathological response. Among all clinical and pathological parameters, only the expression of hypoxia-inducible factor 1A was associated with a pathological response. A positive association was found between expression of aldehyde dehydrogenase and that of hypoxia-inducible factor 1A before and after chemotherapy. Aldehyde dehydrogenase expression was associated with expression of hypoxia inducible-factor 2A in tumors after neoadjuvant treatment. In a univariate analysis, prognosis was influenced by age, pathological response, metastasis to axillary lymph nodes after neoadjuvant chemotherapy, overexpression of hypoxia-inducible factor 2, and the presence of aldehyde dehydrogenase-positive cells within the primary tumor after neoadjuvant chemotherapy. In a multivariate analysis, only age and the presence of aldehyde dehydrogenase-positive cells after chemotherapy were associated with reduced overall survival. CONCLUSION: The presence of aldehyde dehydrogenase-positive cells within the residual tumor after neoadjuvant chemotherapy is associated with an increase in the expression ...
Descritores: Aldeído Desidrogenase/metabolismo
Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo
Neoplasias da Mama/metabolismo
Fator 1 Induzível por Hipóxia/metabolismo
-Protocolos de Quimioterapia Combinada Antineoplásica
Neoplasias da Mama/tratamento farmacológico
Neoplasias da Mama/mortalidade
Neoplasias da Mama/patologia
Intervalo Livre de Doença
Imuno-Histoquímica
Terapia Neoadjuvante
Estadiamento de Neoplasias
Prognóstico
Estudos Prospectivos
Limites: Feminino
Humanos
Pessoa de Meia-Idade
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Texto completo SciELO Brasil
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Id: lil-484149
Autor: Been, Jasper V; Bok, Levinus A; Willemsen, Michèl A. A. P; Struys, Eduard A; Jakobs, Cornelis.
Título: Mutations in the aldh7a1 gene cause pyridoxine-dependent seizures
Fonte: Arq. neuropsiquiatr;66(2a):288-289, jun. 2008.
Idioma: en.
Descritores: Aldeído Desidrogenase/genética
Mutação
Piridoxina/deficiência
Convulsões/genética
/genética
VITAMIN B ABDOMEN, ACUTE DEFICIENCY/genética
Limites: Humanos
Tipo de Publ: Carta
Comentário
Responsável: BR1.1 - BIREME


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Id: lil-225251
Autor: Riveros Rosas, Héctor; Julian Sánchez, Adriana; Piña, Enrique.
Título: Enzymology of ethanol and acetaldehyde metabolism in mammals
Fonte: Arch. med. res;28(4):453-71, dec. 1997. ilus, tab.
Idioma: en.
Resumo: Ehtanol or wthyl alcohol is a molecule that, in mammals, is naturally present at low concentrations due to its production by gastrointestinal flora fermentation activity. However, it is remarkable that this metabolite, with a clearly minor role in regular vertebrate metabolism, can be oxidized into acetaldehyde through several ensymatic and non-enzymatic mechanisms, which comprise the activity of more than ten ensymes and isozymes, many of them broadly distributed in different specie and tissues. In correspondence, acetaldehyde can also be oxidized into acetate through several enzymatic pathways that involve about ten enzymes and isozymes which also have a broad distribution In this article, a complete review of the aforementioned metabolic pathways is elaborated. From this group, the participation and wide distribution of alcohol dehydrogenase and aldehyde dehydrogenase systems are emphasized. The mechanism of reaction, kinetic characteristics and physiological relevance are described, and finally, the possible physiological role of these enzymatic systems as responsible to synthesize or catabolize several endogenous metabolites that regulate growth, metabolism, differentiation and neuroendocrine function in mammals are discussed
Descritores: Acetaldeído/metabolismo
Álcool Desidrogenase/metabolismo
Aldeído Desidrogenase/metabolismo
Etanol/metabolismo
Mamíferos/metabolismo
Limites: Humanos
Animais
Responsável: MX1.1 - CENIDSP - Centro de Información para Decisiones en Salud Pública


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Id: lil-204878
Autor: Santos, Benvinda Rosalina dos.
Título: Reaçäo ao álcool e genotipagem de suas enzimas metabolizadoras em brasileiros de diferentes grupos étnicos.
Fonte: Säo Paulo; s.n; 1997. 49 p. tab.
Idioma: pt.
Tese: Apresentada a Universidade Federal de Sao Paulo. Escola Paulista de Medicina para obtenção do grau de Doutor.
Descritores: Álcool Desidrogenase
Alcoolismo
Aldeído Desidrogenase
Grupos Étnicos
Responsável: BR1.2 - Biblioteca Central
BR1.2; 3067


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Id: lil-103747
Autor: Santisteban, Inés; Baudrit Gómez, Félix.
Título: Aldehído Deshidrogenasa humana en una muestra de la población costarricense / Human aldehyde dehydrogenase in a sample of the Costa Rica population
Fonte: Rev. biol. trop;36(2B):559-62, nov. 1988. ilus, tab.
Idioma: es.
Resumo: This is an electrophoretic study of ALDH isozymes in post-mortem tissue extracts. There differente electrophoretic variants of the isosyme ALDH3 were found in the 100 individuals examined. One liver sample showed lack of ALDH1 activity, but it remains unknown whether this is due to genetic mechanism. The other two isosymes - ALDH2 and ALDH4 - did not show any variations.
Descritores: Aldeído Desidrogenase/análise
Isoenzimas/análise
Fígado/enzimologia
Estômago/enzimologia
-Aldeído Desidrogenase/genética
Costa Rica
Eletroforese
Isoenzimas/genética
Fenótipo
Limites: Feminino
Humanos
Masculino
Responsável: BR1.1 - BIREME


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Id: lil-90196
Autor: Rothhammer, Francisco.
Título: The heredity of human alcohol abuse: myths and facts
Fonte: Arch. biol. med. exp;22(4):355-9, dic. 1989.
Idioma: en.
Descritores: Alcoolismo/genética
Saúde da Família
-Adoção
Álcool Desidrogenase/metabolismo
Alcoolismo/enzimologia
Aldeído Desidrogenase/metabolismo
Frequência do Gene
Marcadores Genéticos
Gêmeos/genética
Limites: Humanos
Masculino
Feminino
Tipo de Publ: Revisão
Responsável: CL1.1 - Biblioteca Central


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Id: lil-65232
Autor: Israel, Yedy; MacDonald, Alain; Waks, Tova; Niemela, Omni.
Título: Induction of an allergic reaction to alcohol metabolites by immunization
Fonte: Arch. biol. med. exp;21(1):71-3, jun. 1988. tab.
Idioma: en.
Descritores: Acetaldeído/efeitos adversos
Hipersensibilidade a Drogas
Imunização
-Acetaldeído/sangue
Acetaldeído/imunologia
Alcoolismo/terapia
Aldeído Desidrogenase/antagonistas & inibidores
Cianamida/farmacologia
Dissulfiram/farmacologia
Camundongos Endogâmicos C57BL
Limites: Camundongos
Animais
Humanos
Responsável: CL1.1 - Biblioteca Central



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