Genetic polymorphisms associated with steroids metabolism and insulin action in polycystic ovary syndrome

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Shorter CAG repeat length in the AR gene is associated with poor outcome in head and neck cancer

Objective: Alterations in the size of the [CAG](n) repeats of the AR gene have been described in several types tumors. The purpose of this study was to evaluate if there is an association between the AR [CAG](n) repeat alleles and the relative risk for head and neck cancer and to analyse microsatellite instability (MSI) and loss of heterozygosity (LOH) in these tumors.Design: Matched samples of blood and head and neck tumors were evaluated using two methodologies, silver-stained gels to perform the analyses of MSI and LOH, and automated analysis to confirm these results and for genotyping of the AR [CAG](n), repeat length. Sixty-nine individuals without cancer were used as a control group for both procedures. The Log-rank test was used to compare overall survival and disease-free survival curves. The Cox proportional hazards regression models were performed to determine the [CAG], repeats as an independent prognostic factor.Results: Patients with alleles <= 20 in the male group showed a correlation with lower disease-free survival (P = 0.0325) and with recurrence or metastasis (RR 2.52, CI 95%). in the female group, the allele 2 (longer allele) showed a significant lower mean of [CAG](n), repeat when compared to the control group. Microsatellite instability was detected in nine cases in both procedures. In six out of these nine cases, we observed a reduction of the AR [CAG](n) repeat length. LOH was detected in one out of 17 women informative for oral cancer in both procedures.Conclusion: These results suggest that short [CAG](n) repeat length (: 20) polymorphism is associated with poor prognosis in a subset of male patients with head and neck cancer and that AR gene microsatellite instability is uncommon in these tumors. (C) 2007 Elsevier Ltd. All rights reserved.

Cortactin is associated with perineural invasion in the deep invasive front area of laryngeal carcinomas

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Polymorphisms of CYP17A1, CYP19, and androgen in Brazilian women with uterine leiomyomas

Background: Uterine leiomyomas are common, benign, smooth muscle tumors representing a significant public health problem. The aim of this study was to investigate CYP17A1, CYP19, and androgen (AR) polymorphisms, their relative risks for uterine leiomyomas and possible associations with clinical parameters.Methods: Uterine leiomyoma tissues and blood samples were obtained from 87 patients, as were peripheral blood samples from 68 control women. Clinical data were recorded in both groups. The CYP17A1 (rs743572) polymorphism was analyzed by PCR-RFLP, and the CYP19 [TTTA](n) repeat and AR [CAG](n) repeat were analyzed using PCR-based GeneScan analysis. AR loss of heterozygosity (LOH) and microsatellite instability were also evaluated, while samples exhibiting LOH were analyzed for X inactivation.Results: Clinical parameters related to disease development did not differ between cases and controls. CYP17A1 *A2/*A2 genotype was prevalent in non-white women. CYP17A1, CYP19, and AR genotypes and alleles did not differ between groups. However, alleles presenting [TTTA](7) repeats in intron 4 of CYP19 were more frequent in the control group (p=0.0550). Shorter and longer [CAG]n repeat alleles of AR were exclusive to the leiomyoma group. The LOH assay showed allele losses at AR locus in four informative tumors and X chromosome inactivation analysis revealed that these tumors retained the active allele.Conclusions: The overall lack of association between uterine leiomyomas with polymorphisms involved in steroidogenesis or steroid metabolism is consistent with the hypothesis that these polymorphisms do not substantially contribute to the development of these tumors.

Shorter CAG repeat in the AR gene is associated with atypical hyperplasia and breast carcinoma

Background: Previous reports into the role of [CAG]n repeat lengths in the androgen receptor (AR) gene indicate that these may play an important part in the development and progression of breast cancer, however, knowledge regarding benign breast lesions is limited. Patients and Methods: PCR-based GeneScan analysis was used to investigate the [CAG]n repeat length at exon 1 of the AR gene in 59 benign breast lesions (27 fibroadenomas, 18 atypical hyperplasias, and 14 hyperplasias without atypia) and 54 ductal breast carcinomas. Seventy-two cancer-free women were used as a control group. In addition, [CAG]n repeats were evaluated for the presence of loss of heterozygosity (LOH) and microsatellite instability (MSI) in a subset of these samples (27 fibroadenomas, 14 hyperplasias without atypia and 22 breast carcinomas). Results: Shorter [CAG]n repeat lengths were strongly correlated with atypical hyperplasias (p=0.0209) and carcinomas (p<0.0001). LOH was found in 1/12 and 4/20 informative cases of hyperplasias without atypia and breast carcinomas, respectively. Three patients with breast carcinoma who had previously presented atypical hyperplasia showed a reduction in the [CAG]n repeat length in their carcinomas. Conclusion: Short [CAG]n repeat length (≤20) polymorphisms are strongly associated with breast carcinomas and atypical hyperplasias. Although non-significant, a subgroup of patients with breast carcinoma and genotype SS showed an association with parameters of worse outcome.

Dissolução e aleatoriedade: a estética do romance na obra Almoço nu de William S. Burroughs. -

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Determinação da crítica razão esforço-pausa em Uchi-Komi no judô, com a utilização de deltas de variação de lactato sanguíneo e da escala subjetiva de esforço de Borg

In the competitive judo, the form as a trainer organizes the process of his/her athlete's training is a very important task for a good acting and a better use of the technical procedures. There is great importance in determining the exercise intensity for the judocas training due to the interest for the high income in several competitions, and few studies returned for this research area, involving those athletes' different physiologic conditions. Therefore, it is necessary to improve protocols of physical evaluation for this modality, increasing his/her applicability. The present study aimed at to verify the validity of a protocol of specific aerobic test of the judo (technique ipon-seoi-nague), no exhausting, adapted of the method of CHASSAIN (1986), using deltas of variations of the lactacidemia and of the Scale of Perception of Effort of Borg, in athletes well. The test adapted to the judo constituted of four exercise series with two efforts similar (double) of 180 seconds with one interval of 90 seconds among them. The series of exercises were accomplished in consecutive days. The intensities of the double tests were of 85%, 95%, 105% and 115% of the minimum lactato for each participant. This work used the technique ipon-seoi-nague, obeying the reasons effort-pause individualized for each athlete, that you/they correspond to the intensities of exercises proposed by the protocol of CHASSAIN (1986). In that way, the athletes applied a blow (maximum speed) and they rested some seconds, depending on the regime effort-pause of the session. At the end of each collection collection of blood (25NL) of each participant's earlobe was accomplished, seeking to measure the concentration of sanguine lactato. The collections were accomplished at the end of the first and of the second efforts, in each one of the series. For the analysis of the Perception of the athletes' Effort, the Scale of Perception... (Complete abstract click electronic access below)