Preliminary study between Y chromosome haplogroups and chagasic cardiomyopathy manifestations in patients with Chagas disease.

INTRODUCTION: Among patients with Chagas disease, men have a higher risk of worse pathological symptoms than women. We aimed to explore the role of the Y chromosome in men diagnosed with Chagas disease and assess the relationship between their ancestry and disease status. METHODS: In this comparative study, we analyzed 150 men with unrelated non-chagasic disease (nCD) and 150 men with unrelated chagasic disease (CD). We assessed the serological diagnosis of Chagas disease, biochemical parameters, thoracic X-rays, electrocardiogram, and transthoracic echocardiography and determined the haplogroup by analyzing a set of 17 microsatellites from the Y chromosome. We examined the associations between common Y chromosome haplogroups and the clinical parameters of risk by logistic regression. RESULTS: For all patients, the most common haplogroups were R1b (43%), G2a (9%), and E1b1b (9%). The R1b and G2a haplogroup was more frequent in men with nCD and CD, respectively. As expected, we observed a high proportion of symptomatic patients in the CD group independent of the haplogroups. Men from both groups classified as having the R1b haplogroup showed less clinical evidence of disease. Multivariate analysis showed that CD patients without R1b were about five times more likely to have a cardio-thorax index >0.5% (OR [odds ratio] = 5.1, 95% CI [confidence interval] = 3.31-8.17). Men without the R1b haplogroup were 2.5 times more likely to show EcoCG alterations (OR = 2.50, 95% CI = 0.16-3.94). CONCLUSIONS: Our results provided evidence that the R1b haplogroup may have a potential protective cardiovascular effect for its carriers.

Preliminary study between Y chromosome haplogroups and chagasic cardiomyopathy manifestations in patients with Chagas disease

Abstract INTRODUCTION: Among patients with Chagas disease, men have a higher risk of worse pathological symptoms than women. We aimed to explore the role of the Y chromosome in men diagnosed with Chagas disease and assess the relationship between their ancestry and disease status. METHODS In this comparative study, we analyzed 150 men with unrelated non-chagasic disease (nCD) and 150 men with unrelated chagasic disease (CD). We assessed the serological diagnosis of Chagas disease, biochemical parameters, thoracic X-rays, electrocardiogram, and transthoracic echocardiography and determined the haplogroup by analyzing a set of 17 microsatellites from the Y chromosome. We examined the associations between common Y chromosome haplogroups and the clinical parameters of risk by logistic regression. RESULTS For all patients, the most common haplogroups were R1b (43%), G2a (9%), and E1b1b (9%). The R1b and G2a haplogroup was more frequent in men with nCD and CD, respectively. As expected, we observed a high proportion of symptomatic patients in the CD group independent of the haplogroups. Men from both groups classified as having the R1b haplogroup showed less clinical evidence of disease. Multivariate analysis showed that CD patients without R1b were about five times more likely to have a cardio-thorax index >0.5% (OR [odds ratio] = 5.1, 95% CI [confidence interval] = 3.31-8.17). Men without the R1b haplogroup were 2.5 times more likely to show EcoCG alterations (OR = 2.50, 95% CI = 0.16-3.94). CONCLUSIONS: Our results provided evidence that the R1b haplogroup may have a potential protective cardiovascular effect for its carriers.

Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia.

Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency need glucocorticoid (GC) therapy, which alters bone mineral metabolism. We analyze clinical and biochemical parameters and different polymorphisms of candidate genes associated with bone mineral density (BMD) in CAH patients. The CAH patients treated with GC and healthy controls were studied. Anthropometric parameters, biochemical markers of bone turnover, and BMD were evaluated. Polymerase chain reaction technique was used to genotype different candidate genes. The 192-192 genotype frequency (IGF-I) was lower in poorly controlled patients than that from controls. In CAH patients, FF genotype (vitamin D receptor, VDR) correlated with lower lumbar spine BMD and there was a significant association between the 0-0 genotype (IGF-I) and high values of ß-CrossLaps and a low total BMD. This study contributes to understanding of the association of genetic determinants of BMD with the variable response to GC treatment in CAH patients and demonstrates the usefulness of these genetic polymorphisms.

Prostate-specific antigen: its relationship with alcohol intake and tobacco.

To determine the influence of alcohol and tobacco consumption on serum prostate-specific antigen (PSA) levels. 59 men participated in this study: 20 with prostate tumors (PT) and 39 without tumor diagnosis (prostate controls, PC) (mean 66 and 58 years, respectively). PSA was analyzed in serum samples and its values were compared through the Kruskal-Wallis nonparametric test. Alcohol and tobacco consumption was also considered. PSA mean value was higher than 4 ng/ml in PT, whereas in PC it was lower than that value. Statistically significant differences were found when comparing PSA between PT and PC (P < 0.05). PSA was higher in alcohol and tobacco consumers than in non-consumers in PT group (P < 0.05). For PC, PSA mean values were higher in non-smokers than in smokers. Statistically significant differences were observed for serum PSA when compared between PT and PC groups considering alcohol and tobacco consumption (P < 0.05). Serum PSA values appear to be influenced by alcohol and tobacco consumption.

Detection of bacterial vaginosis, Trichomonas vaginalis infection, and vaginal Candida infection: a comparative study of methods of extracting exudates, with and without a speculum, during pregnancy.

PURPOSE: To compare the collection of vaginal exudates with and without the use of a speculum to diagnose vaginal infections. MATERIAL AND METHODS: We examined 45 patients with vaginal discharge. Two vaginal swabs were taken, one with and the other without a speculum. Both were examined by wet mount microscopy to detect bacterial vaginosis (BV), Trichomonas vaginalis, and the presence of blastospores with or without pseudomycelium. RESULTS: A total of 90.9% of patients whose vaginal exudates were negative for BV when extracted with a speculum were also negative in the swab taken without a speculum. In the case of BV-positive exudates using a speculum, the correspondence was 90.5% with the swabs taken without a speculum. Among those exudates obtained with a speculum that were negative for Candida, 92.6% of those obtained without a speculum tested negative. In patients with pseudomycelium, when a speculum was used, 100% also presented a diagnosis of pseudomycelium from the swabs taken without a speculum. A concordance test between the techniques involving the use or nonuse of a speculum was performed for each of the diagnoses showed a good agreement according to the observed Kappa statistics (0.8467 and 0.8396 for BV and Candida, respectively). CONCLUSIONS: A very good agreement between the results obtained with and without the use of a speculum was observed. Swabbing without the use of a speculum is especially convenient for pregnant women who require frequent testing for these types of infections during their pregnancies.