Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.

Acute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by a deficiency of hydroxymethylbilane synthase (HMBS). In the present study, we sought to establish a correlation between HMBS activity with the presence of mutations and polymorphisms. Enzyme activity was measured in red blood cells of four Brazilian unrelated AIP families (n = 124) and in blood donors (n = 80).

Genetic polymorphism G894T and the prognosis of heart failure outpatients.

Background: Previous studies have analyzed the role of the genetic polymorphism of endothelial nitric oxide synthase on heart failure prognosis. However, there are no studies relating the G894T and heart failure in Brazil.

Objective: To evaluate the association between G894T GP and the prognosis of a sample of Brazilian outpatients with heart failure.

The significance of p53 immunoexpression with different clones (DO-7 and PAb-240) in oral squamous cell carcinoma.

Background/aim: The TP53 gene is a tumor suppressor gene. Its product is a nuclear protein that regulates cell cycle arrest, apoptosis and DNA repair. Anti-p53 clones DO-7 and PAb-240 recognize the amino acid sequences 21-25 and 213-217, respectively.

β-adrenergic receptor polymorphisms in susceptibility, response to treatment and prognosis in heart failure: implication of ethnicity.

Common functional polymorphisms in β-adrenergic receptor (βAR) genes have been associated with heart failure (HF) phenotypes and pharmacogenetic interactions with βAR blockers. This study evaluated the association between βAR polymorphisms and carvedilol drug response and prognosis in patients with HF. In this prospective cohort controlled study, 326 volunteers were enrolled [146 HF patients (ejection fraction (EF)<50% by Simpson) and 180 healthy controls].

Sickle cell disease: acute clinical manifestations in early childhood and molecular characteristics in a group of children in Rio de Janeiro.

Objectives: To describe clinical events of sickle cell disease and the correlation with β-globin haplotypes and α-thalassemia in under 6-year-old children.

Methods: A retrospective study was conducted of under 6-year-old children from the neonatal screening program in Rio de Janeiro. Forty-eight male and 48 female children were enrolled in this study, 79 with sickle cell anemia and 17 with hemoglobin SC.

Beta1-adrenergic receptor polymorphisms associated with atrial fibrillation in systolic heart failure.

Background: The sympathetic nervous system is of great importance in the pathogenesis of atrial fibrillation in systolic heart failure. The identification of polymorphisms in the beta1-adrenergic receptor gene (ADBR1) represents an important step in understanding this pathogenesis.

Objective: This study assessed the association between the two functional polymorphisms of the beta1-adrenergic receptor gene (ADBR1), Ser49Gly and Arg389Gly, and the presence of atrial fibrillation in patients with systolic heart failure.

Genetic polymorphisms and cerebrovascular disease in children with sickle cell anemia from Rio de Janeiro, Brazil.

The aim of the present work was to examine possible genetic risk factors related to the occurrence of cerebrovascular disease (CVD) in Brazilian population, the frequency of β(S)-globin gene haplotypes and co-inheritance with α-thalassemia (-α(3.7kb)) and single nucleotide polymorphism of methylenetetrahydrofolate reductase (MTHFR-C677T), Factor V Leiden (FV-G1691A) and prothrombin (PT-G20210A) genes in children from Rio de Janeiro. Ninety four children with sickle cell anemia (SCA) were included, 24 patients with cerebrovascular involvement and 70 patients without CVD as control group.

AGT*M235T polymorphism in acute ischemic cardiac dysfunction: the gisca project.

Background: AGT*M235T polymorphism has been associated with high serum angiotensinogen (AGT) levels, systemic hypertension and cardiac dysfunction (CD).

Objective: To test the hypothesis of AGT*M235T polymorphism being associated with the risk of developing cardiac dysfunction (heart failure or asymptomatic left ventricular systolic dysfunction) after acute coronary syndrome (ACS) during hospitalization.

Methods: A total of 363 patients (mean age of 62 ± 12 years), of whom 233 (64%) were men and 130 (36%) were women, all from the same cohort and hospitalized for ACS, were studied.

Endothelial nitric oxide synthase Glu298Asp gene polymorphism in a multi-ethnical population with heart failure and controls.

Brazilian population has a multi-ethnical profile and the prevalence of endothelial nitric oxide synthase enzyme (eNOS) polymorphism in heart failure (HF) has not been previously studied. Therefore the present study assessed the association of eNOS Glu298Asp polymorphism in patients with HF and controls. In a crossover study, was analysed the distribution of the Glu298Asp in 100 outpatients with HF, and 103 healthy controls.

Effect of the 894G>T polymorphism of the endothelial nitric oxide synthase on vascular reactivity following maximal dynamic exercise.

Background: Considering that the role of nitric oxide as a vasodilator is increased after an acute bout of exercise and that the 894G>T polymorphism of the endothelial nitric oxide synthase seems to reduce the nitric oxide release in response to shear stress, the present study investigated the 894G>T polymorphism in relation to vascular reactivity following maximal dynamic exercise.

Method: We studied 110 healthy volunteers (wild-type group 45.5% and polymorphic group 54.

Severity of angiographic coronary obstruction and the apolipoprotein E polymorphism in acute coronary syndromes.

Background: There is evidence of the association between the apolipoprotein E (APOE) and coronary disease; however, there are controversies.

Objective: To evaluate the association between the number of coronary vessels with significant obstruction defined by angiography, the APOE polymorphism and clinical variables.

Methods: This was a cross-sectional, multicenter study with 207 patients (138 men), with acute coronary syndrome (ACS), in the city of Niteroi, state of Rio de Janeiro, Brazil, who underwent coronary angiography and genotype determination for the APOE *2*3*4 polymorphism by the Restriction Fragment Length Polymorphism (RFLP) method.

Treatment of a cohort of patients with acute myocardial infarction and ST-segment elevation.

Background: Although thrombolysis and primary CTA are well-established procedures, they are not administered in a large proportion of the patients with STEMI who arrive to the emergency rooms.

Objective: Describe initial and final the results in a cohort of STEMI patients

Methods: The study included, from hospital admission to the discharge, 158 patients diagnosed with STEMI, from a total of 351 patients with ACS admitted to hospitals in Campos dos Goytacazes, RJ, Brazil, between 2004 and 2006.

Results: Of the 158 patients with STEMI, 67.

A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil.

In this study, we used red cell glucose-6-phosphate dehydrogenase (G6PD) activity to screen for G6PD-deficient individuals in 373 unrelated asymptomatic adult men who were working with insecticides (organophosphorus and carbamate) in dengue prevention programs in 27 cities in São Paulo State, Brazil. Twenty-one unrelated male children suspected of having erythroenzymopathy who were attended at hospitals in São Paulo city were also studied. Fifteen of the 373 adults and 12 of the 21 children were G6PD deficient.

Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patients.

Acute intermittent porphyria (AIP) is an autosomal dominant disorder resulting from porphobilmogen deaminase (PBGD) deficiency. Seven unrelated Brazilian patients were investigated regarding PBGD gene mutations by polymerase chain reaction (PCR) and single strand conformation polymorphism (SSCP) analysis followed by direct DNA sequencing. The PBG gene screening disclosed abnormal SSCP patterns in exons 7, 9, 12, 13, and 15, as well as in introns 3 and 10.