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Results: 723

The rs878081 polymorphism of AIRE gene increases the risk of rheumatoid arthritis in a Chinese Han population: a case-control study

Yang, Haoyu; Li, Jin; Jiang, Lifeng; Jiang, Xijia; Zhou, Xindie; Xu, Nanwei.
Braz. j. med. biol. res; 51 (12), 2018
The autoimmune regulator (AIRE), a transcriptional regulator expressed in medullary thymic epithelial cells, plays an important role in thymocyte education and negative selection. Several citations studying the association between the rs878081 exon polymorphism of the AIRE gene and the risk of rheumatoid...
Artritis Reumatoide/etnología, Artritis Reumatoide/genética, Estudios de Casos y Controles, China, Predisposición Genética a la Enfermedad/genética, Genotipo, Polimorfismo de Nucleótido Simple/genética, Factores de Riesgo, Factores de Transcripción/genética
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A hepatite B na região de São José do Rio Preto: estudo de genótipos e subgenótipos circulantes

Meneghello, Brigida Helena da Silva.
As Hepatites virais representam um grave problema de sa úde pública no mundo, pelo número de indivíduos atingidos , pela s formas graves e mortalidade. Aproximadamente um terç o da população mundial atual já se expôs ao vírus da hepatite B, e estima se que 248 milhões de pessoas estejam infect...
Virus de la Hepatitis B, Genotipo, Hepatitis B, Resistencia a Medicamentos, Mutación
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Co-infección por los virus del dengue y chikungunya: revisión narrativa

Vargas, Sandra Lucía; Céspedes, Diana Carolina; Vergel, Juan David; Ruiz, Erika Paola; Luna, María Camila.
Rev. chil. infectol; 35 (6), 2018
Resumen Introducción: Los virus del dengue y chikungunya son transmitidos por la hembra de los mosquitos Aedes aegypti y Aedes albopictus, ampliamente distribuidos en zonas tropicales y subtropicales, lo que facilita la co-infección. Objetivo: Determinar la magnitud, la distribución geográfica y el...
Fiebre Chikungunya/virología, Coinfección/virología, Dengue/virología, Fiebre Chikungunya/diagnóstico, Fiebre Chikungunya/mortalidad, Fiebre Chikungunya/transmisión, Virus Chikungunya/genética, Coinfección/diagnóstico, Coinfección/mortalidad, Coinfección/transmisión, Dengue/diagnóstico, Dengue/mortalidad, Dengue/transmisión, Virus del Dengue/genética, Genotipo, Geografía, Mosquitos Vectores, Índice de Severidad de la Enfermedad
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Identification of a novel UMOD mutation (c. 163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease

Lopes, LB; Abreu, CC; Souza, CF; Guimaraes, LER; Silva, AA; Aguiar-Alves, F; Kidd, KO; Kmoch, S; Bleyer, AJ; Almeida, JR.
Braz. j. med. biol. res; 51 (3), 2018
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confi...
Biopsia, Genotipo, Mutación/genética, Linaje, Riñón Poliquístico Autosómico Dominante/genética, Riñón Poliquístico Autosómico Dominante/patología, Uromodulina/genética
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Heterozygous HTRA1 missense mutation in CADASIL-like family disease

Wu, Xiaowei; Li, Changxin; Mao, Jinming; Li, Ling; Liu, Yan; Hou, Yao.
Braz. j. med. biol. res; 51 (5), 2018
The aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to screen for related gene...
CADASIL/genética, Predisposición Genética a la Enfermedad, Genotipo, Heterocigoto, Serina Peptidasa A1 que Requiere Temperaturas Altas/genética, Reacción en Cadena de la Polimerasa Multiplex, Mutación Missense/genética, Linaje, Polimorfismo de Nucleótido Simple
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Association study of AFF1 rs340630 polymorphism with genetic susceptibility to rheumatoid arthritis in Chinese population

Sun, Qing-Qing; Hua, Dong-Jin; Huang, Si-Chao; Cen, Han; Zhou, Li; Shao, Song.
Braz. j. med. biol. res; 51 (7), 2018
This study was performed to examine whether the AF4/FMR2 family, member 1 (AFF1) rs340630 polymorphism is involved in the genetic background of rheumatoid arthritis (RA) in a Chinese population. Two different study groups of RA patients and controls (328 RA patients and 449 healthy controls in the first ...
Artritis Reumatoide/genética, Pueblo Asiatico, Estudios de Casos y Controles, Proteínas de Unión al ADN/genética, Frecuencia de los Genes, Predisposición Genética a la Enfermedad/genética, Genotipo, Polimorfismo Genético/genética, Factores de Elongación Transcripcional/genética
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Association between serotonin 2C receptor gene (HTR2C) polymorphisms and psychopathological symptoms in children and adolescents

Paes, L A; Torre, O H Della; Henriques, T B; de Mello, M P; Celeri, E H R V; Dalgalarrondo, P; Guerra Júnior, G; dos Santos Júnior, A.
Braz. j. med. biol. res; 51 (8), 2018
Serotonin 2C receptors (5HT2C) are involved in serotonin-driven dynamic equilibrium adjustments responsible for homeostatic stability in brain structures that modulate behavior and emotions. Single nucleotide polymorphisms (SNPs) from the serotonin 2C receptor gene (HTR2C) have been associated with sever...
Alelos, Lista de Verificación, Distribución de Chi-Cuadrado, Trastornos de la Conducta Infantil/diagnóstico, Trastornos de la Conducta Infantil/genética, Estudios Transversales, Frecuencia de los Genes/genética, Interacción Gen-Ambiente, Genotipo, Trastornos Mentales/diagnóstico, Trastornos Mentales/genética, Polimorfismo de Nucleótido Simple/genética, Escalas de Valoración Psiquiátrica, Receptor de Serotonina 5-HT2C/genética, Encuestas y Cuestionarios
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Association between tumor necrosis factor alpha rs1800629 polymorphism and risk of osteoarthritis in a Chinese population

Chen, Jie; Wu, Yu; Yu, Jiannong; Shen, Jinming.
Braz. j. med. biol. res; 51 (8), 2018
Osteoarthritis (OA) is the most common degenerative disease affecting articular cartilage. Some studies indicate that tumor necrosis factor alpha (TNF-α) gene rs1800629 polymorphism was associated with OA risk among Caucasian populations. To examine the role of this candidate gene in Asian populatio...
Pueblo Asiatico, Estudios de Casos y Controles, Predisposición Genética a la Enfermedad/genética, Genotipo, Osteoartritis de la Rodilla/genética, Polimorfismo de Nucleótido Simple/genética, Factores de Riesgo, Factor de Necrosis Tumoral alfa/genética
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Apolipoprotein B and angiotensin-converting enzyme polymorphisms and aerobic interval training: randomized controlled trial in coronary artery disease patients

Tamburus, N Y; Verlengia, R; Kunz, V C; César, M C; Silva, E.
Braz. j. med. biol. res; 51 (8), 2018
Physical training has been strongly recommended as a non-pharmacological treatment for coronary artery disease (CAD). Genetic polymorphisms have been studied to understand the biological variability in response to exercise among individuals. This study aimed to verify the possible influence of apolipopro...
Umbral Anaerobio/fisiología, Apolipoproteínas B/genética, Estudios de Casos y Controles, Enfermedad de la Arteria Coronaria/sangre, Enfermedad de la Arteria Coronaria/genética, Enfermedad de la Arteria Coronaria/rehabilitación, Frecuencia de los Genes, Genotipo, Frecuencia Cardíaca/fisiología, Entrenamiento de Intervalos de Alta Intensidad/métodos, Lípidos/sangre, Peptidil-Dipeptidasa A/genética, Polimorfismo Genético/genética, Factores de Riesgo
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