Encontrados 14 documentos, a visualizar página 1 de 2
Associação dos Fenótipos da Haptoglobina com os Lípidos e Apolipoproteínas Séri...
M. Guerra, A. J.; B. Castro, E. M.; Guerra, F. Carvalho; Rego, C.; Monteiro, C.; Prata, A.; Silva, D.; Bicho, M.; Santos, N. TeixeiraA aterosclerose e a hipertensão arterial iniciam-se precocemente na idade pediátrica, ainda que as expressões clínicas da doença cardio-cérebro-vascular se manifestem apenas na idade adulta. É objectivo primordial de numerosos estudos transversais e prospectivos a identificação dos principais factores risco, quer genéticos quer ambientais, relativamente ao processo aterosclerótico de modo a traçar estratégias d...
Uma variante do gene WNK4 está associada à osteoporose mas não à hipertensão na...
Mendes, A.I.; Mascarenhas, M.R.; Matos, S; Sousa, I; Ferreira, J; Barbosa, A.P.; Bicho, M; Jordan, P.Germline mutations in the WNK4 gene originate Gordon syndrome or pseudohypoaldosteronism type II, a familial form of hypertension with hyperkalemia and hypercalciuria. The WNK4 protein encodes a protein kinase involved in the regulation of various renal ion channels. In order to elucidate the contribution of WNK4 genetic variants to hypertension and/or osteoporosis, we analyzed 271 control individuals and a coh...
Haptoglobin, acid phosphatase and demographic factors: obesity risk
Ramos, Maria do Rosário; Carolino, Elisabete; Oliveira, Teresa; Silva, A. P.; Carvalho, R.; Bicho, M.The aim of this work is to study the risk of obesity posed by two genetic factors: haptoglobin phenotype and acid phosphatase phenotype, one enzymatic activity: acid phosphatase activity (ACP1), age and gender. Haptoglobin (Hp) is a protein of the immune system, and three phenotypes of Hp are found in humans: Hp1-1, Hp2-1, and Hp2-2. This protein is associated with a su...
Haptoglobin, acid phosphatase and demographic factors: obesity risk
Ramos, Maria do Rosário; Carolino, Elisabete; Oliveira, Teresa; Silva, A. P.; Carvalho, R.; Bicho, M.The aim of this work is to study the risk of obesity posed by two genetic factors: haptoglobin phenotype and acid phosphatase phenotype, one enzymatic activity: acid phosphatase activity (ACP1), age and gender. Haptoglobin (Hp) is a protein of the immune system, and three phenotypes of Hp are found in humans: Hp1-1, Hp2-1, and Hp2-2. This protein is associated with a susceptibility to common pathological condit...
Portuguese study of familial dilated cardiomyopathy: the FATIMA study
Martins, E.; Silva-Cardoso, J.; Bicho, M.; Bourbon, M.; Ceia, F.; Rebocho, M.J.; Moura, B.; Fonseca, C.; Correia, M.J.; Brito, D.; Perdigão, C.Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular dilatation and impaired systolic function, that in more than 30% of cases has a familial or genetic origin. Given its age-dependent penetrance, DCM frequently manifests in adults by signs or symptoms of heart failure, arrhythmias or sudden death. The predominant mode of inheritance is autosomal dominant, and in these cases mutati...
Polimorfismo genético da haptoglobina e grau de gravidade da hipertensão arteri...
Monteiro, C.; Lança, M.; Joaquim, N.; Lamy, I.; Aníbal, J.; Coucelo, Josefina; Coucelo, Josefina; Azevedo, J.; Bicho, M.A susceptibilidade genética para a hipertensão arterial envolve processos nos diferentes passos da sua história natural que podem estar activos em indivíduos e/ou famílias. Nesta susceptibilidade consideram-se o desenvolvimento da doença o seu curso clínico em termos de gravidade e complicações e ainda a variação da resposta terapêutica.
Influence of oxidative stress produced by nitrite in the activity of methaemogl...
Aníbal, J.; Bicho, M.Nitrite induces the oxidation of the haemoglobin forming methaemoglobin, which is nonfunctional. To oppose this formation fishes have an enzyme that reverses the process called methaemoglobin reductase. In vitro activity of the methaemoglobin reductase was determined, in the presence and absence of nitrite in two marine fishes (toadfish, Halobatrachus didactylus and gilt head sea breams Sparus aurata). The KM a...
The activity of methaemoglobin reductase in toadfish (Halobatrachus didactylus)...
Aníbal, J.; Bicho, M.The erythrocytes intracellular oxidative stress oxidizes the haemoglobin forming methaemoglobin, which is nonfunctional. To oppose this formation fishes have an enzyme that reverses the process called methaemoglobin reductase. In vitro activity of the methaemoglobin reductase was determined in two marine fishes with different habitats and behaviours (Halobatrachus didactylus and Sparus aurata). The KM and Vmax,...
Polimorfismo genético da haptoglobina e grau de gravidade da hipertensão arteri...
Monteiro, C.; Lança, M.; Joaquim, N.; Lamy, I.; Aníbal, J.; Coucelo, Josefina; Coucelo, Josefina; Azevedo, J.; Bicho, M.É conhecida a associação do polimorfismo genético da haptoglobina(Hp)quer com a sensibilidade ao sódio da pressão arterial quer com a gravidade hipertensão arterial (HTA).
Platelet serotonin as a biological marker of autism.
Levy, P Q; Laboratório de Genética, Faculdade de Medicina de Lisboa, Universidade de Lisboa.; Bicho, M PPlatelet levels of serotonin were determined by a quantitative direct radioimmunoassay, in a group of autistic patients and a control group. Thirty six autistic patients (28 males and 8 females), all with severe mental retardation, and a group of 23 matched controls, were studied. The serotonin levels in autistic patients (mean +/- SD) (88.37 mmol/dl +/- 40.38) were significantly higher that in the control grou...
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