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.