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Biomedical subjects

R Guazzelli

Publications and source records attributed to R Guazzelli.

At least 19 recordsLinked to original sources
PubMed2000

Searching for a better assessment of the individual coronary risk profile. The role of angiotensin-converting enzyme, angiotensin II type 1 receptor and angiotensinogen gene polymorphisms.

BACKGROUND: Polymorphisms within renin angiotensin system genes have been investigated as risk factors for coronary artery disease in different populations with contradicting results. The aim of this study was to investigate the genotype distribution and the allele frequencies of ACE, AT1R and AGT gene polymorphisms as coronary artery disease factors and their synergistic effects on coronary risk in an Italian population. METHODS AND RESULTDS: In this study ACE, AT1R and AGT gene polymorphisms were investigated in 205 consecutive coronary artery disease patients and in 209 controls. These polymorphisms were analysed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). The ACE D and AGT 235T allele, but not AT1R C allele, frequency was statistically significant in patients. An association between coronary artery disease and ACE DD, AT1R CC and AGT TT genotype, was found by univariate analysis (OR 2.06 P=0.0007, OR 2.49 P=0.009, OR 1.87 P=0. 019, respectively). At multivariate analysis ACE DD and AT1R CC genotype (OR 1.81 P=0.011, OR 2.61 P=0.011, respectively) remained associated with coronary heart disease. Subjects carrying the ACE DD genotype and AT1R C allele showed a stronger association with myocardial infarction (OR=4.02, P<0.0001). CONCLUSION: Our report indicates the increased risk of coronary artery disease in the presence of ACE DD and AT1R CC genotypes independent of other risk factors, in Italian patients. The present study stresses the relevance of screening for genetic risk factors.

Alleles↗
PubMed2000

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 (Fisher's 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 (Fisher's 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.

Adult↗
PubMed1999

The role of the detection of hematogenous micrometastasis in prostate adenocarcinoma and malignant melanoma by RT-PCR.

Recent studies reported the possibility of detecting prostate adenocarcinoma and malignant melanoma cells in peripheral blood using RT-PCR of prostatic specific antigen (PSA), prostatic specific membrane antigen (PSMA) and Tyrosinase mRNAs. The PCR results showed high variability, ranging between 0% and 100% of positivity in patients with advanced disease. Our purpose was to evaluate the presence of tumor marker mRNAs in peripheral blood of prostate cancer and melanoma patients by means of RT-nested-PCR. We tested 70 and 36 peripheral blood samples from prostate carcinoma and malignant melanoma patients, respectively. The RT-PCR analysis showed the presence of PSA cDNA in 9 out of 70 (12.9%); PSMA cDNA in 14 out of 70 (20%); and Tyrosinase cDNA in 2 out of 36 (5.5%) peripheral blood samples from melanoma patients. Our study confirms the applicability of this sensitive method to monitor disease status. Although, the RT-nested-PCR of Tyrosinase is able to detect neoplastic cells in peripheral blood specimens, we suggest the necessity of a great caution in interpreting PCR results when the nested method has been used.

Adenocarcinoma↗
PubMed1998

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.

Aged↗
PubMed1997

The use of RT-"nested" PCR of prostate specific antigen to detect hematogenous neoplastic cells in patients with prostate adenocarcinoma.

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.

Adenocarcinoma↗
PubMed1989

Evidence for a human mitotic mutant with pleiotropic effect.

Male and female sibs born to third-cousin parents presented with mental retardation, microcephaly, short stature, juvenile onset limb-girdle muscular dystrophy and multiple chromosome mosaicism in lymphocytes and fibroblasts. Different aneuploidies (mostly trisomies) were found in 15-20% of the cells and trisomies for chromosome 8 and chromosome 7 predominated in lymphocytes and fibroblasts respectively, while monosomies were rare. Increased cellular death due to aneuploidy could explain symptoms such as mental and growth retardation and microcephaly. This could be an instance of an autosomal recessive mitotic mutant, possibly affecting a protein simultaneously involved in spindle apparatus and muscle function.

Abnormalities, Multiple↗
PubMed1987

[Y chromosome abnormalities and azoospermia. Description of 2 cases].

We describe clinical features and laboratory findings in two azoospermic males with a large Yq deletion involving both the fluorescent and part of the non-fluorescent segment. This report give strong support to the localization of fertility factors in the euchromatic Yq portion.

Adult↗
PubMed1984

Effects of different dopaminergic antagonists on bromocriptine-induced inhibition of norepinephrine release.

In this study we evaluated the effects of placebo or acute bromocriptine (BC) administration (2.5 mg orally) on plasma catecholamines, systolic and diastolic blood pressure (BP), heart rate, and plasma PRL in six normal subjects [group I, mean age 33.2 +/- 5.4 (SD) yr] in the supine as well as upright position. BC induced a significant decrease in plasma norepinephrine in the supine [167.7 +/- 16.8 (SEM) vs. 101.9 +/- 33.7 pg/ml, P less than 0.005] and upright positions [397.3 +/- 27.7 vs. 211.3 +/- 26.7 pg/ml, P less than 0.005], a decrease in systolic and diastolic BP and a decrease in plasma PRL (P less than 0.01). After standing, epinephrine levels increased significantly (53.6 +/- 11.8 vs. 226.4 +/- 71.0 pg/ml, P less than 0.05). The study was repeated in a second group of seven normal subjects (mean age, 32.3 +/- 12.9 yr) after placebo or metoclopramide (20 mg orally) plus BC. In this group metoclopramide, a central and peripheral antidopaminergic agent, counteracted the BC-induced effects found in group I, both in the basal and stimulated conditions. Plasma PRL increased significantly (P less than 0.025). Finally, to assess the effect of peripheral dopaminergic blockade on BC-induced changes in sympathetic outflow, we repeated the study in seven normal subjects (group III, mean age, 30.1 +/- 5.0 yr) after placebo or domperidone (20 mg orally) plus BC. Domperidone blocked the effects of BC on norepinephrine and BP in the supine position. On standing there was a significant decrease in systolic (P less than 0.05) and diastolic (P less than 0.05) BP and an increase in epinephrine levels (58.9 +/- 12.2 vs. 109.8 +/- 24.6 pg/ml, P less than 0.05) was still observed. Plasma PRL increased significantly (P less than 0.025). The results of this study suggest that the inhibition of sympathetic outflow induced by BC is peripherally mediated. As peripheral dopamine receptor blockade did not counteract all the effects after BC during standing, dopaminergic modulation of central reflex sympathetic activation is suggested.

Adult↗
PubMed1983

[Reactivation of the algogenic component in experimental inflammation induced by histamine administration].

The action of i.v. histamine on human skin inflammation experimentally induced with carbon dioxide snow in man is described. Histamine was injected when the skin reaction was on the wane to determine its possible reactivation of inflammation. Complete recrudescence of erythralgia was noted (reappearance of pain and of erythralgic halo, with a fresh spread of secondary hyperalgesia). It is felt that histamine was responsible. Its arrival to the reaction site through microvessels in a state of increased permeability during the remission of inflammation may be assumed to promote the passage of chemical mediators in the preactive stage from the vascular to the interstitial sector, and thus to pave the way for their activation.

Dermatitis, Contact↗
PubMed1981

Spermatic and peripheral oestradiol levels in patients affected by azoospermia due to seminiferous tubular damage.

Plasma levels of testosterone, androstenedione and oestradiol were determined in the spermatic venous blood of both testes of 17 patient affected by azoospermia due to tubular damage (Group I). The results were compared with those found in 5 patients affected by azoospermia of obstructive origin and 5 patients with an inguinal hernia (Group II). Mean spermatic levels of testosterone and androstenedione were not significantly different in the two groups, while the mean (+/- SE) oestradiol spermatic level was significantly higher in patients of Group I (5.02 +/- 0.75 nM/l vs. 2.20 +/- 0.365 nM/l; P less than 0.05). Moreover, while the testosterone/androstenedione and the androstenedione/oestradiol ratios were not significantly different in the two groups, the mean (+/- SE) testosterone/oestradiol ratio was significantly lower in patients of Group I (552.71 +/- 80.94 vs. 939.86 +/- 129.45; P less than 0.025). Peripheral testosterone and androstenedione mean levels were not significantly different between the two groups while the mean peripheral oestradiol level (+/- SE) was significantly higher in Group I (0.107 +/- 0.021 nM/l vs. 0.038 +/- 0.05 nM/l; P less than 0.025). Peripheral oestradiol was not significantly related to peripheral FSH, nor to spermatic oestradiol in both groups. These results suggest the possibility that oestradiol may be involved in the pathogenesis of some cases of male infertility.

Adult↗