Risk factors for hypertensive disorders of pregnancy in southern Brazil.

Objective: The aim of the study was to identify the frequency of risk factors for hypertensive disorders in pregnancy in Southern Brazil.

Methods: The study included 161 patients with hypertensive disorders and 169 control subjects matched by age and ethnicity. The frequency of the risk factors was compared by Fisher's exact test, chi-square and Student's t test.

Relationship of endothelial nitric oxide synthase (eNOS) gene polymorphisms with diabetic retinopathy in Caucasians with type 2 diabetes.

Background: Nitric oxide synthesized by endothelial nitric oxide synthase (eNOS) plays a key role in the regulation of endothelial function, and controversial results regarding the association of eNOS gene polymorphisms with diabetic complications have been reported.

Materials And Methods: In this case-control study, the relationship of the -786T/C, the VNTR intron 4 a/b and the 894G/T (Glu298Asp) polymorphisms in the eNOS gene with the presence or severity of diabetic retinopathy was analyzed in 630 Caucasian-Brazilians with type 2 diabetes (434 with and 196 without diabetic retinopathy). Genotyping of eNOS polymorphisms was carried out using the PCR or PCR-RFLP method, and haplotype frequencies were estimated using a Bayesian method.

Association of eNOS gene polymorphisms with renal disease in Caucasians with type 2 diabetes.

Aim: In this study we investigated if the -786T>C, the VNTR intron 4 a/b and the 894G>T (Glu298Asp) polymorphisms in the eNOS gene were associated with renal disease in 617 type 2 diabetic Caucasian-Brazilians. These polymorphisms were also examined in 100 Caucasian healthy blood donors.

Methods: Genotyping of eNOS polymorphisms was performed by PCR or PCR-RFLP and haplotype frequencies were estimated using a Bayesian method.

Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects.

Abnormal folate/homocysteine metabolism due to polymorphisms in genes involved in this pathway has been implicated as an etiologic factor in Down syndrome (DS). This case-control study aimed to evaluate the effect of maternal C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) as risk factors for the development of DS and congenital heart defects (CHD). The distribution of these genotypic variants was similar between mothers of children with DS (n = 239) and control mothers of normal children (n = 197), but the combined genotypes 677CT or TT and 1298AA increased the risk of having offspring with DS (OR = 1.

Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness.

The aim of the present study is to investigate the prevalence of ten described mitochondrial DNA (mtDNA) mutations in patients with type 2 diabetes, and search for new mutations in four mtDNA genes in a subgroup of patients with characteristics of maternally inherited diabetes and deafness (MIDD). These mutations were investigated in 407 type 2 diabetic patients without characteristics of mitochondrial diabetes ('classical' type 2 diabetes group) and in 38 type 2 diabetic patients with characteristics suggestive of MIDD. Through sequencing of four mtDNA genes in MIDD patients, we selected five others potentially pathogenic mutations that were also screened in the remaining patients.

Frequency and clinical profile of patients with polycystic kidney disease in southern Brazil.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic nephropathies, affecting one in every 800-1000 individuals in the worldwide general population and 5-10% of hemodialysis patients. Little data concerning the prevalence of ADPKD in Brazil are available. Thus, the aim of the present study was to investigate both the frequency and clinical profile of ADPKD among hemodialysis patients in south of Brazil.

The effect of ABO blood group on von Willebrand response to exercise.

Individuals of O blood group have significantly lower plasma levels of either Factor VIII (FVIII) or the von Willebrand factor (vWF). Conversely, there is accumulating evidence that elevated FVIII-vWF levels may represent an important risk factor for ischemic heart and venous thromboembolic disease. In this study, individuals exercised for 20 minutes at 10% below the first ventilatory threshold (aerobic threshold), which corresponds to 48% of maximum oxygen uptake.

Plasma von Willebrand factor levels correlate with clinical outcome of severe traumatic brain injury.

Biochemical markers of cellular stress/injury have been proposed to indicate outcome after head injury. The aim of the present study was to determine whether plasma von Willebrand factor (VWF) levels correlate with primary outcome and with clinical variables in severe traumatic brain injury (TBI). Forty-four male patients, victims of severe TBI, were analyzed.

Immunogenetics of pregnancy: role of a 14-bp deletion in the maternal HLA-G gene in primiparous pre-eclamptic Brazilian women.

The etiology and pathogenesis of pre-eclampsia (PE) involve a combination of maternal-fetal genetic and immunologic factors. The immunologic maladaptation theory of PE predicts that the maternal immune system does not tolerate the semi-allogeneic fetus. Human leukocyte antigen-G (HLA-G) is expressed in some types of immune cells as well as in the fetal-maternal interface by trophoblasts, playing an immunoregulatory role.

The catalase -262C/T promoter polymorphism and diabetic complications in Caucasians with type 2 diabetes.

Catalase is a central antioxidant enzyme constituting the primary defense against oxidative stress. In this study, we investigated whether the functional -262C/T polymorphism in the promoter of catalase gene is associated with the presence of diabetic retinopathy (DR), diabetic nephropathy (DN) and ischemic heart disease (IHD) in 520 Caucasian-Brazilians with type 2 diabetes. The -262C/T polymorphism was also examined in 100 Caucasian blood donors.

Functional vascular endothelial growth factor -634G>C SNP is associated with proliferative diabetic retinopathy: a case-control study in a Brazilian population of European ancestry.

Objective: The purpose of this study was to evaluate the effect of the single nucleotide polymorphism (SNP) -634G>C at the 5' regulatory region of the vascular endothelial growth factor (VEGF) in the risk of proliferative diabetic retinopathy (PDR) in the Brazilian population of European ancestry with type 2 diabetes.

Research Design And Methods: A case-control study was conducted in 501 type 2 diabetic patients of European ancestry. Patients underwent a standardized clinical, ophthalmological, and laboratory evaluation.

Familial history of type 2 diabetes in patients from Southern Brazil and its influence on the clinical characteristics of this disease.

Objective: To investigate the presence of maternal and paternal history of type 2 diabetes mellitus (DM) in relatives of 644 type 2 diabetic patients from Southern Brazil, and also to evaluate its influence on the clinical characteristics of this disease.

Patients And Methods: Familial history of type 2 DM was investigated by a questionnaire. The maternal and paternal history was investigated over two generations.

The -106CC genotype of the aldose reductase gene is associated with an increased risk of proliferative diabetic retinopathy in Caucasian-Brazilians with type 2 diabetes.

Diabetic retinopathy is a sight-threatening chronic complication of diabetes mellitus and is the leading cause of acquired blindness in adults. The -106C>T polymorphism in the promoter region of the aldose reductase (AR) gene has been shown to be associated with the susceptibility to diabetic nephropathy in type 2 diabetes, but the findings regarding the occurrence of diabetic retinopathy are conflicting. In this case-control study, we investigated whether the -106C>T polymorphism in the AR gene is involved in the development and progression of diabetic retinopathy in 579 Brazilians with type 2 diabetes (424 Caucasian- and 155 African-Brazilians).

Relationship of p22phox C242T polymorphism with nephropathy in type 2 diabetic patients.

Background: In this case-control study, we investigated the possible involvement of the p22phox C242T polymorphism in the development and progression of diabetic nephropathy (DN) in 535 Caucasian Brazilians with type 2 diabetes. We also evaluated the effects of the interaction of the C242T polymorphism with smoking and hypercholesterolemia on the susceptibility to nephropathy.

Methods: Genotype analysis was performed using polymerase chain reaction (PCR) followed by digestion with restriction enzyme.

The -374A allele of the receptor for advanced glycation end products gene is associated with a decreased risk of ischemic heart disease in African-Brazilians with type 2 diabetes.

Three functional polymorphisms described in the promoter of receptor for advanced glycation end products (RAGE) gene were shown to have a marked effect on transcriptional activity. The few studies which analyzed the relationship between these three polymorphisms and the diabetic complications have shown conflicting results. In this case-control study, we evaluated the association between the -429T>C, the -374T>A and the 63bp insertion/deletion (I/D) polymorphisms in the RAGE gene, and the presence of diabetic retinopathy, diabetic nephropathy and ischemic heart disease, in 703 Brazilians with type 2 diabetes (520 Caucasian- and 183 African-Brazilians).

[Prevalence of micro and macroangiopatic chronic complications and their risk factors in the care of out patients with type 2 diabetes mellitus].

Background: Type 2 diabetes (DM2) has been related to the development of macroangiopatic [coronary heart disease (CHD), peripheral vascular disease (PVD) and stroke] and microangiopatic [retinopathy, nephropathy, and distal sensory neuropathy (DSN)] complications. The aims of this study were to analyze prevalence of complications in DM2 patients and to estimate their associated risk factors.

Methods: Cross-sectional study, including 927 out patients with DM2 from three medical centers in Rio Grande do Sul: Hospital de Clinicas de Porto Alegre (n = 475), Grupo Hospitalar Conceicao (n = 229) and Hospital Sao Vicente de Paula (n = 223).

Diabetic retinopathy in Euro-Brazilian type 2 diabetic patients: relationship with polymorphisms in the aldose reductase, the plasminogen activator inhibitor-1 and the methylenetetrahydrofolate reductase genes.

We investigated the relationship between diabetic retinopathy (DR) and three polymorphisms, C(-106)T in the aldose reductase (ALR2) gene, 4G/5G in the plasminogen activator inhibitor-1 (PAI-1) gene and C677T in the methylenetetrahydrofolate reductase (MTHFR) gene, in 210 Euro-Brazilian type 2 diabetic patients. Retinopathy was evaluated by funduscopic examination and genotype analysis was performed using the polymerase chain reaction and allele-specific restriction. Retinopathy was detected in 47% of the patients.

Analysis of the -1185A/G von Willebrand factor (VWF) gene polymorphism in two Brazilian ethnic groups and its effect on the plasma VWF levels.

Both genetic and environmental factors influence the variation in von Willebrand factor (VWF) levels between individuals, the main genetic variable known to be involved in differences in VWF levels being the ABO blood group. The -1185A/G polymorphism in the 5'-regulatory region of VWF gene has been associated with plasma VWF levels in a normal population. The objective of our study was to examine the relationship between the -1185A/G polymorphism and plasma VWF levels in a total of 420 individuals from two Brazilian ethnic groups.