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Id: biblio-999021
Autor: Lardone, María Cecilia; Mericq, María Verónica.
Título: Implicancias del polimorfismo de repeticiones de glutamina del receptor de andrógenos en la presentación de eventos peripuberales / Implications of androgen receptor gene glutamine repeat polymorphism in the presentation of peripubertal events
Fonte: Rev. chil. endocrinol. diabetes;10(4):142-149, oct. 2017. ilus, tab.
Idioma: es.
Resumo: Puberty is a period of transition during which girls and boys acquire secondary sexual characteristics and reproductive capacity. The order of appearance of the pubertal traits accounts for a correct or otherwise incorrect activation of the hypothalamic-pituitary-gonadal axis. The growth of the pubic hair before 8 years in girls and 9 years in boys (precocious pubarche, PP) without any other apparent cause has been largely attributed to the early increase of adrenal androgen levels. Also, premature adrenarche (PA) was traditionally considered an extreme within the normal range, however emerging evidence links early androgen excess with the metabolic syndrome. In this context, it has been suggested that an exacerbated clinical manifestation of androgens may be related to greater sensitivity of the androgen receptor (AR). The purpose of this review is to summarize the current knowledge of the contribution of the CAG repeats polymorphisms of AR in the peripubertal manifestations of androgens with special emphasis on precocious pubarche and body composition
Descritores: Polimorfismo Genético
Puberdade Precoce/genética
Receptores Androgênicos/genética
Repetições de Trinucleotídeos
-Composição Corporal
Adrenarca/genética
Limites: Seres Humanos
Masculino
Responsável: CL1.1 - Biblioteca Central


  2 / 22 LILACS  
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Id: lil-748309
Autor: Favorito, Luciano A..
Título: The importance of Renal Anatomy in Endourologic Procedures
Fonte: Int. braz. j. urol;41(2):193-194, Mar-Apr/2015.
Idioma: en.
Descritores: Cãibra Muscular/diagnóstico
Cãibra Muscular/metabolismo
-Creatina Quinase/metabolismo
Eletromiografia
Cãibra Muscular/genética
Neuroimagem
Receptores Androgênicos/genética
Repetições de Trinucleotídeos/genética
Gravação de Videoteipe
Limites: Adulto
Seres Humanos
Masculino
Tipo de Publ: Relatos de Casos
Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


  3 / 22 LILACS  
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Id: lil-745915
Autor: Dias, Olívia Meira; Costa, Eduardo Leite Vieira; Pereira, Daniel Antunes Silva; Chaves, Caroline Nappi; Rached, Samia Zahi; Barbas, Carmen Silvia Valente.
Título: Tracheobronchomalacia in a patient on invasive mechanical ventilation: the role of electrical impedance tomography in its detection and positive end-expiratory pressure titration / Traqueobroncomalácia em paciente sob ventilação mecânica invasiva: o papel da tomografia de impedância elétrica na sua detecção e na titulação da pressão expiratória final positiva / Traqueobroncomalácia em paciente sob ventilação mecânica invasiva: o papel da tomografia de impedância elétrica na sua detecção e na titulação da pressão expiratória final positiva
Fonte: J. bras. pneumol;41(2):203-205, Mar-Apr/2015. tab, graf.
Idioma: en.
Descritores: /genética
BRCATEMEFOS PROTEIN/genética
Neoplasias da Mama Masculina/genética
Carcinoma Ductal de Mama/genética
Carcinoma Lobular/genética
Carcinoma Papilar/genética
Receptores Androgênicos/genética
-Neoplasias da Mama Masculina/complicações
Neoplasias da Mama Masculina/epidemiologia
Carcinoma Ductal de Mama/epidemiologia
Carcinoma Lobular/etnologia
Carcinoma Papilar/epidemiologia
Egito/epidemiologia
Predisposição Genética para Doença
Cirrose Hepática/complicações
Marrocos/epidemiologia
Repetições de Trinucleotídeos/genética
Limites: Adulto
Idoso
Seres Humanos
Masculino
Meia-Idade
Tipo de Publ: Estudo Multicêntrico
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Id: lil-684526
Autor: Brazilian Journal of Medical and Biological Research; Casseb, R.F.; D'Abreu, A.; Ruocco, H.H.; Lopes-Cendes, I.; Cendes, F.; Castellano, G..
Título: Thalamic metabolic abnormalities in patients with Huntington's disease measured by magnetic resonance spectroscopy
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;46(8):722-727, ago. 2013. tab, graf.
Idioma: en.
Projeto: FAPESP; . FAPESP.
Resumo: Huntington's disease (HD) is a neurologic disorder that is not completely understood; its fundamental physiological mechanisms and chemical effects remain somewhat unclear. Among these uncertainties, we can highlight information about the concentrations of brain metabolites, which have been widely discussed. Concentration differences in affected, compared to healthy, individuals could lead to the development of useful tools for evaluating the progression of disease, or to the advance of investigations of different/alternative treatments. The aim of this study was to compare the thalamic concentration of metabolites in HD patients and healthy individuals using magnetic resonance spectroscopy. We used a 2.0-Tesla magnetic field, repetition time of 1500 ms, and echo time of 135 ms. Spectra from 40 adult HD patients and 26 control subjects were compared. Quantitative analysis was performed using the LCModel method. There were statistically significant differences between HD patients and controls in the concentrations of N-acetylaspartate+N-acetylaspartylglutamate (NAA+NAAG; t-test, P<0.001), and glycerophosphocholine+phosphocholine (GPC+PCh; t-test, P=0.001) relative to creatine+phosphocreatine (Cr+PCr). The NAA+NAAG/Cr+PCr ratio was decreased by 9% and GPC+PCh/Cr+PCr increased by 17% in patients compared with controls. There were no correlations between the concentration ratios and clinical features. Although these results could be caused by T1 and T2 changes, rather than variations in metabolite concentrations given the short repetition time and long echo time values used, our findings point to thalamic dysfunction, corroborating prior evidence.
Descritores: Doença de Huntington/metabolismo
Espectroscopia de Ressonância Magnética
Doenças Talâmicas/metabolismo
Tálamo/fisiopatologia
-Ácido Aspártico/análise
Ácido Aspártico/análogos & derivados
Estudos de Casos e Controles
Creatina/análise
Deutério
Dipeptídeos/análise
Glicerilfosforilcolina/análise
Atividade Motora
Fosfocreatina/análise
Fosforilcolina/análise
Repetições de Trinucleotídeos
Doenças Talâmicas/diagnóstico
Limites: Adolescente
Adulto
Idoso
Feminino
Seres Humanos
Masculino
Meia-Idade
Adulto Jovem
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


  5 / 22 LILACS  
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Id: lil-661645
Autor: Peixoto, Juelto C. Fernandes; Santos, Emmanuel Aguiar; Paulino, Antônio Trindade; Faria, Carolina Gonçalves Pinho Piana de; Borlot, Paulo Estevão Wandekoken; Santos, Sávio Silva; Gomes, Andréia Patrícia.
Título: Aspectos etiopatogênicos da Doença de Huntington / Etiopathogenic aspects of Huntington's disease
Fonte: J. bras. med;88(3):47-51, mar. 2005.
Idioma: pt.
Resumo: A doença de Huntington (DH) é um distúrbio hereditário autossômico dominante, que está relacionado à expansão das repetições de CAG (citosina-adenina-guanina) no braço curto do cromossomo 4, o que leva à formação de uma proteína mutante associada, principalmente, à destruição neuronal do estriado. Manifesta-se por transtornos motores, cognitivos e neuropsicológicos, evoluindo progressivamente para estado demencial grave. A patogênese da doença ainda apresenta pontos obscuros. No entanto, recentes investigações têm possibilitado maior entendimento de sua origem e evolução, assim como de outras doenças neurodegenerativas

Huntington's disease is a hereditary autosomal dominant disorder which occurs due to the expansion of the repetitions CAG on the short arm of chromosome 4, which leads to the formation of a mutant protein itself associated principally to the destruction of neuronal of the striated tissue. It manifests through motor, cognitive and neuropsychological disorders where it evolves progressively to a serious demential state. The pathogenesis of this disease still presents obscure points although recent investigations made it possible to understand it better in its origin and evolution, the same as with other neurodegenerative diseases
Descritores: /genética
CROMOSSOMOS HUMANOS PAR ABBREVIATIONS AS TOPIC/genética
Doença de Huntington/etiologia
Doença de Huntington/genética
Doença de Huntington/patologia
Proteínas Mutantes/genética
Sequências Repetitivas de Ácido Nucleico
-Doenças Neurodegenerativas/etiologia
Degeneração Neural
Proteínas do Tecido Nervoso
Neurônios/patologia
Repetições de Trinucleotídeos/genética
Limites: Seres Humanos
Masculino
Feminino
Responsável: BR1365.1 - Biblioteca Biomédica A - CB/A


  6 / 22 LILACS  
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Id: lil-632388
Autor: Patino-García, Brenda; Arroyo, Carlos; Rangel-Villalobos, Hector; Soto-Vega, Elena; Velarde-Félix, Jose Salvador; Gabilondo, Fernando; Sandoval-Ramírez, Lucila; Figuera, Luis Eduardo.
Título: Association between polymorphisms of the androgen and vitamin D receptor genes with prostate cancer risk in a Mexican population / Asociación entre polimorfismo de andrógenos y receptores de vitamina D con riesgo de cáncer prostático en una población mexicana
Fonte: Rev. invest. clín;59(1):25-31, ene.-feb. 2007. tab.
Idioma: en.
Resumo: Introduction. Prostate cancer (PCa) is a worldwide health issue, because of its high incidence and mortality. Its etiology is complex and includes certain risk factors such as age, hormonal status, ethnic origin and family history of PCa. Genetic predisposition is proposed as a major risk factor and there are several controversial reports on the association of PCa and gene polymorphism such as the receptors of the androgen receptor (AR) and the vitamin D (VDR). Objective. To evaluate the CAG triplets repetitions in the first exon of the AR and polymorphisms in the restriction site Taql in the VDR in Mexicans with PCa. Material and methods. A total of 68 Mexicans with histopathological diagnosis of PCa and 48 healthy Mexican with normal prostate specific antigen and rectal exam where included. 10ml of peripheral blood were extracted to isolate DNA and the polymorphisms were evaluated with specific primers for the AR and VDR. Results. The allelic and genetic distributions of the AR and VDR polymorphisms were consistent with the Hardy-Weinberg equilibrium, and there were no statistical differences between the PCa patients and controls (p > 0.05). However, there was a statistical difference between the number of CAG repeats in younger patients with PCa compared to controls (p = 0.045) but when the young patient group was compared versus the elder group there was not stadistically difference (p = 0.085), but the results showed a tendency towards less repetitions of CAG in elder patients. Concerning the VDR, when we analyzed the patients with PCa and a bad pathological prognosis they had a less frequent genotype of TT (p = 0.03). Conclusions. Our results suggest an association between the VDR and AR gene polymorphisms, and the hystopathological score and age at diagnosis in Mexican patients with PCa, respectively. However, it is important to confirm these results in a larger scale study.

Introducción. El cáncer de próstata (PCa) es un problema de salud mundial, tanto por su elevada incidencia como mortalidad. Su etiología es compleja e incluye factores de riesgo reconocidos como la edad, estado hormonal, origen étnico y antecedentes familiares de PCa. El fondo genético es un factor de riesgo y existen reportes controversiales de la asociación de PCa y polimorfismos en los genes como son los receptores de vitamina D (VDR) y el de andrógenos (AR). Objetivo. Evaluar las repeticiones de tripletes de CAG en el primer exon del AR y polimorfismos en el sitio de restricción Taql en el VDR en mexicanos con PCa. Material y métodos. Se incluyeron 68 mexicanos con diagnóstico histopatológico de PCa y 48 mexicanos con niveles normales de antígeno prostático y tacto rectal normal. Se les extrajo 10 mL de sangre periférica para aislar DNA y mediante olígos específicos se evaluaron los polimorfismos mencionados. Resultados. La distribución alélica y genotípica de los polimorfismos en el AR y VDR fueron consistentes con el equilibrio de Hardy-Weinberg, y no mostraron diferencias significativas entre los casos y controles (p > 0.05). Sin embargo, el número de repeticiones de CAG en el AR fueron estadísticamente diferentes en pacientes jóvenes con PCa comparados con los controles (p = 0.045), cuando se comparó el grupo de pacientes de jóvenes contra aquellos mayores de 60 años no se encontró diferencia estadísticamente significativa (p - 0.085); sin embargo, se observó una tendencia de un número menor de repetidos CAG en pacientes mayores con PCa. Por otra parte, al comparar VDR en los pacientes con PCa de mal pronóstico por el patrón histológico tenían menor frecuencia de genotipos TT (p - 0.03). Conclusiones. Nuestros resultados sugieren una asociación entre los polimorfismos de los genes del VDR y AR, y el patrón histológico y la edad al diagnóstico en pacientes mexicanos con PCa, respectivamente. Sin embargo, es necesario confirmar estos resultados en un estudio con mayor número de pacientes.
Descritores: Adenocarcinoma/genética
Éxons/genética
Polimorfismo de Fragmento de Restrição
Neoplasias da Próstata/genética
Receptores Androgênicos/genética
Receptores de Calcitriol/genética
Repetições de Trinucleotídeos
-Fatores Etários
Idade de Início
Adenocarcinoma/epidemiologia
Calcitriol/fisiologia
Desoxirribonucleases de Sítio Específico do Tipo II
Grupos Étnicos/genética
Predisposição Genética para Doença
Genótipo
México/epidemiologia
Neoplasias da Próstata/epidemiologia
Fatores de Risco
Limites: Idoso
Idoso de 80 Anos ou mais
Seres Humanos
Masculino
Meia-Idade
Responsável: MX1.1 - CENIDSP - Centro de Información para Decisiones en Salud Pública


  7 / 22 LILACS  
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Texto completo SciELO Chile
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Id: lil-591909
Autor: Yuan, Mei; Gong, Limin; Meng, Ronghua; Li, Shuangling; Dang, Phat; Guo, Baozhu; He, Guohao.
Título: Development of trinucleotide (GGC)n SSR markers in peanut (Arachis hypogaea L)
Fonte: Electron. j. biotechnol;13(6):5-6, Nov. 2010. ilus, tab.
Idioma: en.
Projeto: National High Technology Research and Development Program of China; . USDA/CSREES/CBG.
Resumo: Cultivated peanut (Arachis hypogaea L.) is an oilseed crop of economic importance. It is native to South America, and it is grown extensively in the semi-arid tropics of Asia, Africa, and Latin America. Given an extremely narrow genetic base, efforts are being made to develop simple sequence repeat (SSR) markers to provide useful genetic and genomic tools for the peanut research community. A SSR-enriched library to isolate trinucleotide (GGC)n SSRs in peanut was constructed. A total of 143 unique sequences containing (GGC)n repeats were identified. One hundred thirty eight primer pairs were successfully designed at the flanking regions of SSRs. A suitable polymerase was chosen to amplify these GC-rich sequences. Although a low level of polymorphism was observed in cultivated peanut by these new developed SSRs, a high level of transferability to wild species would be beneficial to increasing the number of SSRs in wild species.
Descritores: Arachis/genética
Repetições de Microssatélites
-DNA de Plantas/genética
Cultivos Agrícolas
Marcadores Genéticos
Polimorfismo Genético
Repetições de Trinucleotídeos
Responsável: CL1.1 - Biblioteca Central


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Texto completo SciELO Brasil
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Id: lil-588109
Autor: Caixeta, L.
Título: Huntington's disease presenting as posterior cortical atrophy / Doença de Huntington se apresentando como atrofia cortical posterior
Fonte: Arq. neuropsiquiatr;69(2b):407-408, 2011. ilus.
Idioma: en.
Descritores: Córtex Cerebral/patologia
Doença de Huntington/patologia
-Atrofia/patologia
Doença de Huntington/genética
Imagem por Ressonância Magnética
Repetições de Trinucleotídeos/genética
Limites: Idoso
Feminino
Seres Humanos
Tipo de Publ: Relatos de Casos
Carta
Responsável: BR1.1 - BIREME


  9 / 22 LILACS  
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Id: lil-568030
Autor: Magaña, Jonathan J; Vergara, María Dolores; Sierra-Martínez, Mónica; García-Jiménez, Elvia; Rodríguez-Antonio, Facundo; del Rocío Gómez, María; Valdés-Flores, Margaritaa; Cisneros, Bulmaro.
Título: Análisis molecular de los repetidos CAG en pacientes mexicanos con ataxia espinocerebelosa tipo 2 / Molecular analysis of the CAG repeat among patients with Type-2 spinocerebellar ataxia in the Mexican population
Fonte: Gac. méd. Méx;144(5):413-418, sept.-oct. 2008. ilus, tab, graf.
Idioma: es.
Resumo: Antecedentes: La ataxia espinocerebelosa tipo 2 es causada por la expansión del repetido CAG presente en el exón 1 del gen de la ataxina-2, lo cual origina la incorporación de un segmento de poliglutaminas en la proteína mutante. Métodos: Mediante reacción en cadena de la polimerasa y electroforesis capilar se determinó el número de repetidos CAG del gen de la ataxina-2 en 66 individuos pertenecientes a tres familias mexicanas diagnosticadas clínicamente con ataxia espinocerebelosa tipo 2, y en 400 individuos de una muestra de población mestiza mexicana. Resultados: Se identificó la expansión del repetido CAG en 11 sujetos con sintomatología de ataxia espinocerebelosa tipo 2 y en cuatro individuos asintomáticos, lo que confirmó el diagnóstico en dos de las tres familias analizadas. Se determinó que los pacientes con mayor número de repetidos desarrollaron la sintomatología de la enfermedad a una edad más temprana, fenómeno conocido como “anticipación”. Los alelos silvestres presentaron un rango entre 13 y 30 repetidos CAG, siendo el alelo de 22 repetidos el más frecuente, mientras que los alelos mutados mostraron un rango de 36 a 54 repetidos. Conclusiones: La identificación de la expansión del repetido CAG del gen de la ataxina-2 confirmó el diagnóstico clínico de ataxia espinocerebelosa tipo 2.

BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) results from the expansion of a CAG triplet located within the coding sequence of the ataxin-2 gene, which ultimately provokes the incorporation of a stretch of polyglutamines in the mutant protein. METHODS: We determined by PCR and capillary electrophoresis the number of ataxin2 gene CAG repeats in 66 individuals belonging to 3 families, clinically diagnosed with SCA2, and 400 subjects from a sample of the mestizo Mexican population. RESULTS: The CAG repeat expansion was found in 11 symptomatic subjects and four asymptomatic individuals, confirming the SCA2 clinical diagnosis in two out of the three families studied. We noted that patients with longer CAG repeat numbers have an early disease onset, a phenomenon known as anticipation. Wild-type alleles showed a CAG repeat range between 13 and 30, and the allele carrying 22 CAG repeats was the most common among our sample. Mutant alleles also displayed a range between 36 and 54 CAG repeats. CONCLUSIONS: The identification of the CAG repeat expansion facilitates an accurate SCA2 diagnosis.
Descritores: Ataxias Espinocerebelares/genética
Proteínas do Tecido Nervoso/genética
Repetições de Trinucleotídeos
-México
Linhagem
Limites: Seres Humanos
Adolescente
Adulto Jovem
Responsável: BR1.1 - BIREME


  10 / 22 LILACS  
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Id: lil-553769
Autor: Figueiredo, C. C; Kochi, C; Longui, C. A; Rocha, M. N; Richeti, F; Evangelista, N. M. A; Calliari, L. E. P; Monte, O.
Título: Size of the exon 1-CAG repeats of the androgen receptor gene employed as a molecular marker in the diagnosis of Turner syndrome in girls with short stature
Fonte: Genet. mol. res. (Online);7(1):43-49, Jan. 2008. tab, ilus.
Idioma: en.
Resumo: Turner syndrome (TS) is one of the most common chromosomal abnormalities among girls. Complete monosomy of X chromosome is responsible for almost 50% of all cases of TS, and mosaicism and X anomaly are detected in the other half. It has already been demonstrated that early diagnosis of these children allows appropriate growth hormone treatment with better final height prognosis and introduction of estrogen at an ideal chronological age. Sixty-four short-stature girls were selected and the clinical data obtained were birth weight and height, weight and height at the first medical visit and target height. Other clinical data including cardiac and renal abnormalities, otitis, Hashimoto thyroiditis, cubitus valgus, short neck, widely separated nipples, and pigmented nevi were obtained from the patients' medical records. The aim of the present study was to evaluate the screening of a group of short-stature girls for TS based on the number of CAG repeats of the androgen receptor gene analyzed by GeneScan software. Patient samples with two alleles (heterozygous) were 49/64 (76.5%) and with one allele (homozygous) were 15/64 (23.5%). A karyotype was determined in 30 patients, 9 homozygous and 21 heterozygous. In the homozygous group, 6/9 were 45,X and 3/9 were 46,XX. In the heterozygous group, 17/21 were 46,XX, and 4/21 were TS patients with mosaicism (45,X/46,XX; 45,X/46XiXq; 46XdelXp). The pattern obtained by GeneScan in two patients with mosaicism in the karyotype was an imbalance between the peak heights of the two alleles, suggesting that this imbalance could be present when there is a mosaicism. The frequency of TS abnormalities (18.7%) did not differ between TS and 46,XX girls. Thus, it is important to accurately assess the incidence of TS in growth-retarded girls, even in the absence of other dysmorphisms. In this study, we diagnosed 6 cases of TS 45,X (9.4%) by molecular analysis, with a 100% sensitivity and 85% specificity. This molecular analysis was...
Descritores: Éxons
Estatura/genética
Receptores Androgênicos/genética
Repetições de Trinucleotídeos/genética
Síndrome de Turner/diagnóstico
-Alelos
Marcadores Genéticos
Heterozigoto
Homozigoto
Mosaicismo
Sensibilidade e Especificidade
Estatística como Assunto
Fatores de Tempo
Limites: Seres Humanos
Feminino
Criança
Responsável: BR26.1 - Biblioteca Central



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