R Guazzelli

RAS genes influence exercise-induced left ventricular hypertrophy : an elite athletes study

PURPOSE The association of ACE I/D polymorphism with changes in LV mass in response to physical training has been observed, but no association has been found with AT1R A1166C polymorphism. We investigated the ACE I/D, AT1R A1166C, and AT1R CA microsatellite polymorphisms genotype distribution in elite athletes and whether the presence of AT1R C1166 variant, in addition to ACE D allele affects the training-induced LV mass alterations in elite trained athletes. METHODS The study population comprised 28 healthy players recruited from an Italian elite male soccer team and 155 healthy male subjects. LV mass, LV mass adjusted for body surface area, septal thickness, posterior wall, end-diastolic and end-systolic ventricular dimension, and ejection fraction were determined by echocardiography in pretrained period, at rest and 7 months later during the training. All subjects were genotyped for ACE I/D, AT1R A1166C, and CA microsatellite polymorphisms. RESULTS Training induced an LV mass increase in all but six athletes. The percentage of athletes in whom an increase of LV mass was found after training was statistically different in relation to the ACE D allele: no increase was observed in three of 24 D allele carriers and in three of four II genotype players (Fishers exact test, P = 0.02). As AT1R is concerned, no increase was observed in 4 of 15 C allele carriers and in 2 of 13 AA genotype athletes (Fishers exact test, P > 0.05). The contemporary presence of ACE D and AT1R C allele did not affect the changes after training. No difference has been observed in the CA microsatellite marker allele frequencies between athletes and controls (P = 0.46). CONCLUSION In this study, we provide the evidence that soccer play does not select athletes on genotype basis. Training-induced LV mass changes in male elite athletes are significantly associated with the presence of ACE D allele, but not of AT1R C allele.

Molecular Genetic Alterations of c-myc Oncogene in Superficial and Locally Advanced Bladder Cancer

Objective: Gene activation and altered expression of cellular proto-oncogene are important mechanisms implicated in initiation and development processes of human cancer. It has already been shown that c-myc oncogene is implicated in the control of cell proliferation, apoptosis and differentiation. Methods: We have determined the methylation status, the presence of genetic amplification and the presence of m-RNA overexpression of c-myc gene in 31 samples from patients with bladder carcinomas. Results: Our data demonstrated the presence of c-myc gene amplification only in 5 of 15 superficial bladder carcinomas (p < 0.05). On the other hand, we did not find statistical significant correlation between the methylation, expression of c-myc gene and the clinical-histopathological parameters. A significant correlation (p < 0.05) was found between the methylation pattern and m-RNA overexpression of c-myc oncogene. Conclusion: We demonstrate aberrant c-myc gene status in human bladder cancer. This oncogene is altered at different levels in bladder carcinoma genesis and progression.

The use of RT–”nested” PCR of prostate specific antigen to detect hematogenous neoplastic cells in patients with prostate adenocarcinoma

Abstract The aim of this study was to determine the presence of hematogenous neoplastic cells in patients with prostate cancer. We used a reverse transcription (RT) ”nested” polymerase chain reaction (PCR) of prostate-specific antigen (PSA) mRNA to detect the presence of circulating tumor cells in 52 patients who underwent radical prostatectomy with lymphadenectomy. Blood samples were obtained before and after the surgical manipulation. Seven (13.5%) preoperative samples presented evidence of circulating neoplastic cells. All postoperative specimens studied presented a negative result at analysis 24 h after surgical manipulation. Although we did not find a statistical correlation between the PSA-PCR results and clinical-histopathological parameters, the presence of circulating prostate cells was strongly correlated with an elevated Gleason score of primary tumor (P<0.01). Thus our data show the positive effect of surgical treatment in removing the metastases source. The sensitive RT–nested PCR assay may play a crucial role in the administration of adjuvant therapy of patients with prostate adenocarcinoma.

Morbilità e Mortalità nella Prole di 300 Coppie di Coniugi Consanguinei nel Comune di Firenze

A family investigation has been carried out on 301 consanguineous and the same number of nonconsanguineous couples, who married in Florence in the years 1939 through 1958. The sample turned out to be homogeneous as regards age of the couple, year of marriage, period of cohabitation, social level, and methods of survey. The average rate of consanguinity in Florence in the above years was of 0.458 × 10 −3 , with a decrease from 0.595 to 0.327 × 10 −3 between the first and the second decade. While the number of pregnancies is not significantly different in the two groups, abortions are more frequent among blood relatives. As a result, the number of stillbirths being not significantly different, the birth rate is higher among the controls. Infant mortality is more than double in blood relatives. As regards morbidity, hereditary defects or anomalies show an average increase of 2.6 times in the offspring of blood relatives: the increase being higher for serious hereditary defects (3.44) than for lighter ones (1.98). The finding of slight delays in mental development was 4.8 times more frequent in the offspring of blood relatives. By applying Morton-Crow-Mullers formula, it was possible to calculate the A and B values, and to find out, in the observed population, the presence of 2.2-2.4 pathological gene equivalents per gamete as to early mortality (abortions + stillbirths + infant mortality); 1.6-1.7 gene equivalents as to hereditary defects in general; and 0.82-0.85 gene equivalents as to slight delays in mental development.