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Biomedical subjects

D Marinelli

Publications and source records attributed to D Marinelli.

13 recordsLinked to original sources
PubMed2001

Polymorphisms of drug-metabolizing enzymes in healthy nonagenarians and centenarians: difference at GSTT1 locus.

Drug metabolizing enzymes are involved in the detoxification of several drugs, environmental substances, and carcinogenic compounds, and their polymorphisms have been associated with risk for a variety of cancer. In this paper, we compared the frequency of polymorphisms in cytochrome P450-1A1 gene (CYP1A1), a phase 1 gene (oxidation, activation), and of two polymorphisms of glutathione S-transferase enzymes (GSTM1, GSTT1), two phase 2 genes (conjugation, detoxification). Two groups were studied and compared, i.e., 94 nonagenarians and centenarians and 418 control subjects of younger age. A significant difference in the proportion of nonagenarians and centenarians homozygotes for a GSTT1 deletion (28%) was observed in comparison to control subjects (19%, P = 0.03). The distribution of the other gene polymorphisms did not differ in the two groups. These findings on phase 2 drug-metabolizing enzyme gene polymorphisms may help in disentangling gene-environmental interactions which can have a role in successful aging and longevity, as well as in cancer incidence in the oldest old.

Adolescent↗
PubMed2001

International collaborative study on genetic susceptibility to environmental carcinogens (GSEC): an update.

We have created a database of published and unpublished studies on genetic susceptibility to environmental carcinogens, by bringing together many single studies that are too small to give definitive answers on the role of metabolic genes in cancer susceptibility. Possible participants were identified through a literature search of case control studies published up to June 1999 on metabolic gene polymorphisms and cancer, and invited to send their data sets without personal identifiers. Individual data from a total of over 30,000 subjects (52% cancer cases, 48% controls) have been collected. The most common type of cancer is lung, followed by bladder, head and neck, and breast. Demographic data, such as age, sex, and race were obtained for almost all the subjects. Main exposures, such as smoking, alcohol, occupational exposure were also included in a portion of the data set. The simultaneous presence of two gene polymorphisms has been assessed in 3535 controls and 3445 cases. An Advisory Committee has evaluated and approved 8 proposals to analyze the available data. This project allows the study of the main effects of genes, gene-exposure effects, ethnic and geographic differences in allele frequencies, gene-environment and gene-gene interaction as possible risk factors for cancer.

Carcinogens↗
PubMed2001

Current smoking, occupation, N-acetyltransferase-2 and bladder cancer: a pooled analysis of genotype-based studies.

The aim of this study was to investigate the association of NAT2 gene polymorphism with bladder cancer using the data derived from the International Project on Genetic Susceptibility to Environmental Carcinogens. Four case control studies conducted in four European countries, plus two case series, one from England and one from Germany, for a total of 1530 cases and 731 controls (all Caucasian) were included. The interaction between NAT2 and bladder cancer considering smoking habits and occupational exposure was studied. There was a significant association between NAT2 and bladder cancer (odds ratio: 1.42, 95% confidence interval: 1.14-1.77), with a slightly significant heterogeneity among studies. However, heterogeneity disappeared when smokers were divided into current and ex-smokers. The risk of cancer was elevated in smokers and occupationally exposed subjects, with the highest risk among slow acetylators. The increase in risk was limited, in fact, to current smokers (odds ratio = 1.74, 95% confidence interval: 0.96-3.15). This analysis confirms that the NAT2 genotype is a risk factor for bladder cancer by interacting with smoking or occupational exposures. Our observation suggests that NAT2 is not a risk factors per se but modulates the effect of carcinogens contained in tobacco smoke (probably arylamines) or associated with occupational exposures.

Adult↗
PubMed1998

Novel lectin-related proteins are major components in lima bean (Phaseolus lunatus L.) seeds.

The only component of the lectin-related protein family so far reported in Lima bean (Phaseolus lunatus L.) seeds is the minor seed lectin (LBL). In the morphotype Big Lima, we have isolated and characterised two abundant lectin-related seed proteins and the corresponding cDNA clones. The clones show 93.7% nucleotide identity and encode an arcelin-like (ARL) and an alpha-amylase inhibitor-like (AIL) protein. Not considering the signal peptides, ARL and AIL polypeptides contain 239 and 233 amino acids, respectively. Each polypeptide is present in the mature protein as two glycoforms. ARL subunits (43 and 46 kDa) make up oligomers of about 125 to 130 kDa whereas AIL subunits (40 and 42 kDa) oligomerise in dimers of about 88 to 100 kDa. cDNA clones encoding two isoforms of the less abundant Lima bean lectin were also isolated. In common bean (P. vulgaris) the lectin locus encodes the lectin and the lectin-related proteins alpha-amylase inhibitor and arcelin, all plant defence proteins. Our data indicate extensive evolution of the locus also in Lima bean.

Amino Acid Sequence↗
PubMed1992

Followup prostate biopsy in patients with carcinoma of the prostate treated by 192iridium template irradiation plus supplemental external beam radiation.

We reviewed our experience with 81 patients who had undergone followup needle biopsies of the prostate between 12 and 27 months after 192iridium template radiotherapy combined with external beam radiation therapy. When broken down by stage 82% of the patients with stage A2, 92% with B1, 95% with B2 and 55% with C disease demonstrated a negative biopsy and adequate local control of the cancer. We believe that in elderly patients, poor risk patients with early stage disease and stage C lesions this low morbidity, low mortality therapy offers a viable option to other modalities of treatment.

Aged↗
PubMed1991

Acrocallosal syndrome: a new case.

We describe a 2-month-old infant girl with typical clinical manifestations of the acrocallosal syndrome: characteristic face, agenesis of corpus callosum, polydactyly associated with other anomalies of the extremities, and mental retardation. The importance of a correct nosology and genetic counseling is underlined on the basis of the description of familiar cases of the syndrome.

Abnormalities, Multiple↗
PubMed1987

Multiple congenital anomalies associated with apparently normal maternal intake of vitamin A: a phenocopy of the isotretinoin syndrome?

The teratogenicity of vitamin A has been repeatedly reported in the literature and confirmed on the basis of several cases of adverse pregnancy outcome associated with maternal isotretinoin exposure. We report a case which shows a striking similarity with this syndrome, but the child was born to a mother who took a normal supplementation of vitamin A during pregnancy. The differential diagnosis is discussed.

Abnormalities, Drug-Induced↗
PubMed1987

Prostatic disorders: MR imaging at 1.5 T.

Pelvic magnetic resonance (MR) images obtained at 1.5 T of 31 men with known genitourinary disease were reviewed retrospectively. In most, peripheral and central prostatic zones could be seen on axial images obtained with long repetition times/echo times (TRs/TEs). The prostate had no specific signal intensity that enabled differentiation between benign and malignant changes. Each patient with known extracapsular prostatic carcinoma had a peripheral zone defect--1 cm or greater in diameter with ill-defined borders and relatively lower signal intensity than that of the remainder of the peripheral zone--that correlated with the site of clinical-pathologic involvement. Correlation of a peripheral zone defect on long TR/TE images as a sign for extracapsular spread of prostatic cancer was 100% sensitive, yet 54% specific, with excellent interobserver agreement. Stage A2 and B1 prostatic carcinoma was not detected. Benign prostatic hyperplasia was seen as centrally located proliferation and nodularity, usually with discrete margins and a wide spectrum of low- to high-signal-intensity features. MR imaging may have a role in differentiating between intracapsular and extracapsular prostatic carcinoma.

Adult↗
PubMedDate not supplied

Metabolic gene polymorphisms and p53 mutations in healthy centenarians and younger controls.

To obtain insights into the genetic mechanisms of ageing, we studied the frequency of the simultaneous presence of polymorphisms in phase I and phase II genes and of several p53 germline mutations in a group of 66 nonagenarians and centenarians in good health, selected from a larger sample of a multicentre Italian study in Northern Italy, and in a sample of 150 young healthy volunteers of the same ethnic group. We found a statistically significant difference in the frequency of 1the GSTT1 deletion and the p53 genotypes: the absence of any p53 polymorphisms and of GSTT1 deletion, and the simultaneous presence of the three p53 polymorphisms and of GSTT1 deletion, were much more frequent in young subjects than in centenarians (41.5% versus 26.9% and 8.8% versus 3.8%, respectively). One hypothesis to explain this difference is that subjects with both GSTT1 deletion and p53 polymorphisms may accumulate carcinogens and may have reduced DNA repair ability, and thus are more at risk for cancer. Another possible explanation is that both metabolic genes and p53 act on pathways related to cell ageing and death, and therefore certain composite genetic patterns could represent a generic mechanism of protection against ageing, not just against the development of chronic diseases. It is likely that longevity is related to a complex genetic trait as well as to certain environmental exposures.

Adult↗
PubMedDate not supplied

Cost analysis of neodymium-YAG laser versus transurethral resection treatment of superficial bladder carcinoma.

We have analyzed a group of patients treated by various urologists with both neodymium-YAG laser photoirradiation and transurethral resection in the treatment of superficial bladder carcinoma. The average hospitalization for the group of patients treated by the laser was significantly shorter than the group of patients treated by transurethral resection of the bladder tumor. The complications were similar. The cost savings to patients treated by laser photoirradiation appears to be significantly greater in laser groups of patients as opposed to conventional transurethral resection techniques.

Adult↗