4 resultados para MURINE MUTATION WEAVER
em Universidade Federal do Pará
Resumo:
É apresentada uma solução totalmente analítica do modelo da falha infinita para o modo TE magnetotelúrico, levando em conta a presença do ar, utilizando como base o trabalho de Sampaio apresentado em 1985, que apresenta uma solução parcialmente analítica e parcialmente numérica – solução híbrida. Naquela solução foram aplicadas oito condições de contorno, sendo que em quatro delas foram encontradas inconsistências matemáticas que foram dirimidas com alterações adequadas nas soluções propostas por Sampaio. Tais alterações propiciaram a chegarse à solução totalmente analítica aqui apresentada. A solução obtida foi comparada com a solução de Weaver, com a de Sampaio e com o resultado do método numérico dos elementos finitos para contrastes de resistividade iguais a 2, 10 e 50. A comparação da solução analítica, para o campo elétrico normalizado, com a solução de elementos finitos mostra que a solução analítica proporcionou resultados mais próximos, em comparação aos fornecidos por Weaver e por Sampaio. Este é um problema muito difícil, aberto para uma solução analítica definitiva. A solução apresentada aqui é, nesta direção, um grande passo.
Resumo:
Introduction: This study confirmed the absence of natural infection with Xenotropic murine leukemia virus-related virus (XMRV) or XMRV-related disease in human populations of the Brazilian Amazon basin. We demonstrated that 803 individuals of both sexes, who were residents of Belem in the Brazilian State of Pará, were not infected with XMRV. Methods: Individuals were divided into 4 subgroups: healthy individuals, individuals infected with human immunodeficiency virus, type 1 (HIV-1), individuals infected with human T-lymphotrophic virus, types 1 or 2 (HTLV-1/2), and individuals with prostate cancer. XMRV infection was investigated by nested PCR to detect the viral gag gene and by quantitative PCR to detect pol. Results: There was no amplification of either gag or pol segments from XRMV in any of the samples examined. Conclusions: This study supports the conclusions of the studies that eventually led to the retraction of the original study reporting the association between XMRV and human diseases.
Resumo:
Inherited resistance to activated protein C caused by the factor V Leiden (FVL) mutation is the most common genetic cause of venous thrombosis yet described, being found in 20-60% of patients with venous thrombophilia. A relationship between the FVL mutation and an increased predisposition to arterial thrombosis in young women was recently reported. We assessed the prevalence of the FVL mutation in 440 individuals (880 chromosomes) belonging to four different ethnic groups: Caucasians, African Blacks, Asians and Amerindians. PCR amplification followed by MnlI digestion was employed to define the genotype. The FVL mutation was found in a heterozygous state in four out of 152 Whites (2.6%), one out of 151 Amerindians (0.6%), and was absent among 97 African Blacks and 40 Asians. Our results confirm that FVL has a heterogeneous distribution in different human populations, a fact that may contribute to geographic and ethnic differences in the prevalence of thrombotic diseases. In addition, these data may be helpful in decisions regarding the usefulness of screening for the FVL mutation in subjects at risk for thrombosis.
Resumo:
Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary excretion of GAG, and to improve some of the patients' clinical signs. We studied biochemical and molecular characteristics of nine MPS patients (two MPS I, four MPS II and three MPS VI) undergoing ERT in northern Brazil. The responsiveness of ERT was evaluated through urinary GAG excretion measurements. Patients were screened for eight common MPS mutations, using PCR, restriction enzyme tests and direct sequencing. Two MPS I patients had the previously reported mutation p.P533R. In the MPS II patients, mutation analysis identified the mutation p.R468W, and in the MPS VI patients, polymorphisms p.V358M and p.V376M were also found. After 48 weeks of ERT, biochemical analysis showed a significantly decreased total urinary GAG excretion in patients with MPS I (p < 0.01) and MPS VI (p < 0.01). Our findings demonstrate the effect of ERT on urinary GAG excretion and suggest the adoption of a screening strategy for genotyping MPS patients living far from the main reference centers.