ABSTRACT. The coronary arteriosclerotic disease is the most common cardiovascular disease. Atherosclerosis affects large-and medium-sized arteries leading to severe thrombosis or artery stenosis that could evolve to myocardial infarction, ischemic stroke, ischemic injury of kidneys and intestines, and several other life-threatening clinical manifestations. Nitric oxide has been shown to be a promising therapeutic agent against cardiovascular diseases. The eNOS gene assumes several important functions, including regulation of vascular tone and regional blood flow, the suppression of vascular smooth muscle cell proliferation, and modulation of leukocyte-endothelium interactions. The T786C polymorphism is an important point mutation, where thymine is changed to cytosine. T786C significantly reduces the activity of the eNOS promoter gene. Two hundred and ninety-seven peripheral blood samples were collected from patients with the previous diagnosis of atherosclerotic disease based on clinical examination and confirmed by imaging methods. Results were compared using the chisquare test and the G-test. In the present study, the TC genotype was more frequent in both case and control groups with no statistically significant difference. Comparing the relation TC/TT and CC genotypes in the case and control groups, there was no statistically significant difference. No significant difference was found when genotypes were analyzed regarding gender and smoking. Our results suggest a strong tendency of the T allele, in single or double dose, to be associated with atherosclerosis that was not confirmed by the scientific data.

We prospectively evaluated the incidence of difficulty in defecation in infants with gastroesophageal reflux who were treated with smaller volume feeds thickened with rice cereal and also assessed the effect of changing the cereal to oatmeal. We evaluated 53 thriving infants with uncomplicated gastroesophageal reflux who were treated with smaller volume feeds thickened with rice cereal. Parents maintained records of bowel movements for 7 days. Rice was substituted by oatmeal cereal in those infants developing difficulty in defecation and another 7 days' record was kept. Of the 53 infants enrolled, 34 (64%) reported no difficulty in defecation, 8 (15%) reported mild difficulty, and 11 (21%) reported severe difficulty in defecation during rice-based feedings. In these symptomatic 19 infants, after rice was substituted by oatmeal cereal, 10 infants (52.6%) reported no symptoms, 6 (31.6%) had mild symptoms, and 3 (15.8%) continued to have severe symptoms. We conclude that difficulty in defecation is common during treatment of infants with gastroesophageal reflux with smaller volume feeds thickened with rice cereal. Substitution of rice with oatmeal cereal results in partial or complete resolution of symptoms in most of these infants.

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ABSTRACT. The aim of this study was to determine the prevalence of polymorphisms in the glutathione S-transferase genes GSTM1 and GSTT1 in patients with lens opacity (cataract). Peripheral blood samples were obtained from male and female patients (N = 23) with cataract. The GSTM1 and GSTT1 polymorphic regions were amplified by polymerase chain reaction, and the amplification products were electrophoresed on a 2% agarose gel. The obtained bands were visualized by staining with ethidium bromide. The results were compared by a chi-square test using the BioEstat software (v.5.0). The frequencies of the GSTM1-and GSTT1-null genotypes were higher than those of the GSTM1-and GSTT1-present genotypes. The frequency of GSTT1-null genotypes was approximately 1.7 times higher than that of GSTM1, which was a statistically significant difference (P = 0.0019). Although a consensus remains to be reached on the correlation between genetic polymorphisms in GSTs and cataract susceptibility, the observations from most scientific studies are similar to those reported in this study. Thus, we conclude that the absence of these genes, particularly GSTT1, is correlated with the development of lens opacity.

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The hemoglobinopathies are a group of hereditary alterations prevalent in many parts of the world, but significantly affect the Brazilian population for its abundant miscegenation. These alterations in structural genes that cause the formation of hemoglobin variants, and/or regulatory genes, causing thalassemias. Currently, the number of identified abnormal hemoglobin has increased due to improvement in methods of analysis, however, many routine laboratories are not prepared for the correct identification of these changes. In the present study aimed to assess the prevalence of hemoglobinopathies by classical methods and perform the molecular characterization of mutations S, C, beta thalassemia IVS-110, IVS-1, IVS-6 and CD-39 by gene amplification using the PCR technique-AE. The molecular study used specific primers that bind promptly at the position of the mutated allele in position and the normal allele, and thus can perform gene allele specific amplification. We collected 200 samples of peripheral blood of patients in clinical laboratories at PUC-Goiás from July/2012 to December 2012. We observed two patients (1%) AC one (0.5%) AS, two (1%) with IVS-6 mutation and one (0.5%) IVS-6. The codon 39 and IVS-110 were not detected in any of the investigated patients. We concluded that our molecular methodology in the characterization of hemoglobin mutations is useful and it can be used to identify hemoglobinopathies.

©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 18 (3): gmr18269 F.R.B. Oliveira et al. 2 association was found between smoking and eNOS T786C polymorphism. As for drinking, there was also no association with this polymorphism and or with cofactors.