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Biomedical subjects

E Taioli

Publications and source records attributed to E Taioli.

At least 19 recordsLinked to original sources
PubMed2006

11q13 amplification status and human papillomavirus in relation to p16 expression defines two distinct etiologies of head and neck tumours.

Two distinct etiologies of head and neck squamous cell carcinoma (HNSCC) have been proposed, DNA damage owing to tobacco and alcohol exposure and human papillomavirus (HPV) oncogene-mediated transformation. Common genetic alterations in HNSCC include TP53 mutations, 11q13 amplification (amp) and CDKN2A/p16 mutations or promoter methlyation. However, in HPV+ HNSCC it is frequent to observe wild-type TP53 and expression of p16. The relationship of this unusual pattern with 11q13 amp has not been tested. In a retrospective study on 125 HNSCC patients, only 17% (five out of 30) of HPV+ vs 44% (39 out of 89) of HPV - tumours expressed 11q13 amp (adjusted odds ratio (OR)=0.2, 95% confidence interval (CI)=0.1-0.6). A subpopulation of tumours (n=69) were classified according to the three molecular markers, TP53, p16 and 11q13 amp. In addition to wild-type TP53, and p16 expression, HPV+ tumours were more likely not to be amplified at 11q13 (OR=6.5, 95% CI=1.8-23.9). As HPV+ HNSCC lack the genetic alterations which are common in other tumours, we hypothesise that HPV infection may represent an early event in the HNSCC carcinogenic process, thus suggesting a distinct molecular pathway.

Adult↗
PubMed2006

Meta- and pooled analysis of GSTT1 and lung cancer: a HuGE-GSEC review.

Lung cancer is the most common malignancy in the Western world, and the main risk factor is tobacco smoking. Polymorphisms in metabolic genes may modulate the risk associated with environmental factors. The glutathione S-transferase theta 1 gene (GSTT1) is a particularly attractive candidate for lung cancer susceptibility because of its involvement in the metabolism of polycyclic aromatic hydrocarbons found in tobacco smoke and of other chemicals, pesticides, and industrial solvents. The frequency of the GSTT1 null genotype is lower among Caucasians (10-20%) than among Asians (50-60%). The authors present a meta- and a pooled analysis of case-control, genotype-based studies that examined the association between GSTT1 and lung cancer (34 studies, 7,629 cases and 10,087 controls for the meta-analysis; 34 studies, 7,044 cases and 10,000 controls for the pooled analysis). No association was observed between GSTT1 deletion and lung cancer for Caucasians (odds ratio (OR) = 0.99, 95% confidence interval (CI): 0.87, 1.12); for Asians, a positive association was found (OR = 1.28, 95% CI: 1.10, 1.49). In the pooled analysis, the odds ratios were not significant for either Asians (OR = 0.97, 95% CI: 0.83, 1.13) or Caucasians (OR = 1.09, 95% CI: 0.99, 1.21). No significant interaction was observed between GSTT1 and smoking on lung cancer, whereas GSTT1 appeared to modulate occupational-related lung cancer.

Asian People↗
PubMed2006

Role of simian virus 40 in cancer incidence in solid organ transplant patients.

Transplant recipients have an increased risk of developing cancer in comparison with the general population. We present here data on cancer development in transplanted subjects who received organs from donors whose DNA was previously examined for the genomic insertion of Simian Virus 40 (SV40). Active follow-up of 387 recipients of solid organs donated by 134 donors, not clinically affected by cancer, was performed through the National Transplant Center (NTC). The average length of follow-up after transplant was 671+/-219 days (range 0-1085 days). Out of 134 proposed donors, 120 were utilised for organ donation. Of these, 12 (10%) were classified as positive for SV40 genomic insertion. None of the 41 recipients of organs from SV40 positive donors developed a tumour during the follow-up. In all, 11 recipients of organs given by SV40 negative donors developed a tumour (cancer incidence: 0.015 per year). In conclusion, cancer rates observed in our study are comparable to what reported by the literature in transplanted patients. Recipients of solid organs from SV40 positive donors do not have an increased risk of cancer after transplant. The role of SV40 in carcinogenesis in transplanted patients may be minimal.

Adult↗
PubMed2005

Meta-analysis of cancer incidence in children born after assisted reproductive technologies.

A meta-analysis was performed on 11 cohort studies of Assisted Reproductive Technologies (ART) and subsequent childhood cancer, published up to February 2005, which reported comparable, nonoverlapping data, and then restricted to eight studies which presented a similar research design. The overall Standardised Incidence Ratio was 1.33 (95% CI 0.62-2.85), and 0.77 (95% CI 0.41-1.42) when the analysis was restricted to eight studies. No evidence of publication bias was observed for the overall analysis. The data are consistent with a lack of increase in risk of childhood cancer, though the amount of data on ART and cancer is still limited; larger multicentric studies as well as a pooled analysis on the available data are warranted.

Child↗
PubMed2005

Human exposure to dioxins through diet in Italy.

We have measured the content of polychlorinated dibenzo-p-dioxins, and polychlorinated dibenzofurans (together defined as "dioxins") in 269 samples of food of animal origin collected through the regional veterinary services, covering the national territory. Quantification of the dioxins was accomplished by isotope dilution method, and toxic equivalents (TEQ) were calculated. The average daily food intake was obtained from two main sources: national data collected by the National Institute of Nutrition, and data from an ongoing cohort study on diet and cancer including 40,000 Italian subjects. The mean value of dioxins measured in food of animal origin was 0.144 +/- 0.266 pg-TEQ/g (range: 0.003-1.655 pg-TEQ/g). Fish was the item with the highest content. The estimated intake of dioxins with main food items of animal origin is presented. The major contribution to dioxins intake with food comes from cow milk and fish consumption. These results are in agreement with what observed in studies conducted in other countries, such as Germany, Finland, Japan, Spain, and are below the limits set by the European legislation.

Animals↗
PubMed2005

Quality evaluation of solid organ transplant in Italy for the period 2000 to 2002 data from the national transplant center.

BACKGROUND: As part of the increased need for transparency and disclosure of information in health care, the Italian Minister of Health has commissioned the Superior Institute of Health to study health outcomes for several procedures, among which is solid organ transplants. We herein report the results of a quality evaluation of solid organ transplants and on the relationship between hospital volume of activity and outcomes, using the data routinely collected by the National Transplant Center during the period 2000 to 2002. METHODS: We collected and analyzed all the information on solid organ transplants between 2000 and 2002, along with clinical information before and after transplant. Multivariate survival analysis was performed to adjust the follow-up data for the complexity of the cases. Correlation graphs are presented that assess the association between the number of transplants and the adjusted 1-year survival of both the organ and the patient. RESULTS: One-year survival was 92.4% for kidney, 77.8% for liver, and 83.9% for heart. Patient survival was 97.0%, 84.1%, and 83.9%, respectively. A negative correlation was observed between the number of transplants performed by each center and 1-year survival of the organ. CONCLUSIONS: Our study indicated that survival after organ transplants in Italy is good and that hospital quality, indirectly measured through survival, overlaps that observed in other Western countries.

Humans↗
PubMed2004

Cyclosporine monitoring in stable, long-term, pediatric kidney transplant recipients: the value of C2 determination.

Although a generalized consensus has been reached for therapeutic drug monitoring of cyclosporine microemulsion in adult transplant patients, clear guidelines are recently not available for the pediatric population. In this retrospective analysis of pharmacokinetic data obtained from stable, long-term, pediatric kidney transplant recipients, we sought to define a possible approach to manage cyclosporine therapy in a pediatric setting. The 2-hour postdose cyclosporine blood concentration, C(2), rather than trough levels, was the best single time point predictor of the area under the concentration curve. We concluded that therapeutic drug monitoring of cyclosporine-based immunosuppressive regimens should be tailored based on C(2) determinations for pediatric kidney transplant recipients.

Area Under Curve↗
PubMed2003

Increased susceptibility to nonalcoholic fatty liver disease in heterozygotes for the mutation responsible for hereditary hemochromatosis.

BACKGROUND: Insulin resistance is a key feature of nonalcoholic fatty liver disease. Patients with hereditary hemochromatosis, a disease characterized by progressive iron overload due, in most cases, to homozygosity for C282Y mutation in the HFE gene, have often decreased insulin sensitivity and release. AIMS: To determine whether increased iron parameters/heterozygosity for the mutations of the HFE gene confer susceptibility to nonalcoholic fatty liver disease. PATIENTS: One hundred and thirty-four consecutive Italian patients with clinical and ultrasonographic diagnosis of nonalcoholic fatty liver disease (82 with hyperferritinemia), half confirmed by liver biopsy. METHODS: Insulin was determined by radioimmunoassay. HFE gene mutations were determined by polymerase chain reaction and restriction fragment length polymorphism analysis. RESULTS: (1) Prevalence of C282Y HFE mutation was significantly higher in patients with nonalcoholic fatty liver disease compared to controls, the difference being more striking in patients with hyperferritinemia than in those without. (2) The presence of mild iron overload was associated with a lower insulin release. (3) Carriers of C282Y mutation developed nonalcoholic fatty liver disease despite lower body mass index and triglycerides. CONCLUSION: The mild iron overload associated with heterozygosity for C282Y HFE mutation confers susceptibility to nonalcoholic fatty liver disease, causing relative insulin deficiency.

Adult↗
PubMed2003

Polymorphisms in CYP1A1, GSTM1, GSTT1 and lung cancer below the age of 45 years.

BACKGROUND: A genetic component of early-onset lung cancer has been suggested. The role of metabolic gene polymorphisms has never been studied in young lung cancer cases. Phase 1 and Phase 2 gene polymorphisms are involved in tobacco carcinogens' metabolism and therefore in lung cancer risk. METHODS: The effect of metabolic gene polymorphisms on lung cancer at young ages was studied by pooling data from the Genetic Susceptibility to Environmental Carcinogens (GSEC) database. All primary lung cancer cases of both sexes who were Caucasian and </=45 years of age at diagnosis, and the corresponding controls were selected. We obtained 261 cases and 1452 controls. RESULTS: There was a marginally significant association between lung cancer and GSTT1 null genotype (OR=1.2; 95% CI:1.0-1.6), and a significant association between lung cancer and the homozygous CYP1A1 Msp1 variant allele (CYP1A1*2A and *2B) genotype (OR=4.7 95% CI:1.2-19.0). When data were stratified by smoking status, the association between CYP1A1 genotype and lung cancer was confined to never smokers. CONCLUSIONS: These results suggest that metabolic genetic factors play a role in lung cancer developing at young ages.

Adult↗
PubMed2002

Lipid profile during rhGH therapy in pediatric renal transplant patients.

To evaluate the effect of recombinant human growth hormone (rhGH) treatment on the lipid profile of pediatric renal transplant patients, we studied nine children treated with rhGH for 1 yr and a control group of 12 untreated patients matched in terms of age, renal transplant function and post-transplant follow-up. The levels of lipoprotein (a [Lp(a)], cholesterol, triglycerides, apolipoprotein A (APO A) and apolipoprotein B (APO B), and the APO B/APO A ratio, were determined at baseline and after 6 and 12 months of follow-up. RhGH therapy had no effect on cholesterol, triglycerides or apolipoproteins. Mean serum Lp(a) levels increased from 6.7 +/- 5.7 mg/dL at baseline to 11.8 +/- 10.7 after 6 months (p = 0.018) and 13.6 +/- 15.1 after 12 months of rhGH treatment (p = 0.04), but did not change in the control group. Lp(a) is a risk factor for cardiovascular morbidity, and increased Lp(a) levels may be a side-effect of rhGH treatment in renal transplant patients. Although long-term follow-up of a large number of patients is needed to establish the duration and extent of the effects of rhGH treatment on Lp(a) levels in transplanted children, serum Lp(a) levels should be carefully monitored in those receiving rhGH therapy.

Adolescent↗
PubMed2002

Allele frequencies of polymorphisms of TNFA, IL-6, IL-10 and IFNG in an Italian Caucasian population.

Polymorphisms in the regulatory and intronic regions of several cytokines have been associated with differential cytokine production. In this paper we genotyped, using the polymerase chain reaction-sequence-specific primers (PCR-SSP) method, a series of 363 healthy Italian Caucasians with the aim of obtaining a reference population for further studies on the role of cytokines in the inflammatory and immune responses. We also compared the results to those for other populations. The polymorphisms analysed were those of tumour necrosis factor alpha (TNFA), interleukin 6 (IL-6), interleukin 10 (IL-10) and interferon gamma (IFNG). We found that the frequency of allele TNFA*1 at position -380 was 87.7% and that of TNFA*2 was 12.4%, significantly different from those of the UK and Japanese populations but not different from that of a population in Gambia. For IL-10 the frequencies of alleles -1082A and -1082G were 63.0% and 37.0% and those of alleles -819C, - 819T, -592C and -592A were 70.8, 29.2, 70.8 and 29.2%, respectively, significantly different from those observed in south-east England, in Manchester and in an Oriental population from southern China. The frequencies of IL-6 alleles - 174C and -174G were 29.0 and 71.0%, respectively; for IFNG polymorphisms at position -874, in the population under evaluation, the alleles -874T and -874A were present in 44.7 and 55.3% of the subjects, respectively. Genotype frequencies of IL-6 were significantly different from those observed in populations from Germany and from the UK. The analysis carried out by our group indicates that there is heterogeneity in the frequencies of the cytokine polymorphisms among the different Caucasian populations, and this underlines the importance of a 'local' reference population when evaluating the clinical relevance of cytokine gene polymorphisms.

Adult↗
PubMed2001

Tumor necrosis factor alpha promoter polymorphisms influence the phenotypic expression of hereditary hemochromatosis.

Severe iron overload usually develops in patients with hereditary hemochromatosis (HHC), but variability in the phenotypic expression of the disease has been reported. This study assessed whether tumor necrosis factor alpha (TNF-alpha) plays a role in phenotypic expression of HHC. Sixty-four patients with HHC and 172 healthy volunteers (controls) were studied. Release of TNF-alpha from stimulated peripheral blood monocytes was measured by enzyme-linked immunosorbent assay, and 308 and 238 TNF-alpha polymorphisms were detected with polymerase chain reaction and restriction fragment-length polymorphism analysis. The relation between TNF-alpha polymorphisms and clinical expression of HHC was evaluated. Patients with HHC released less TNF-alpha than controls, but the difference was significant only in homozygotes for the C282Y mutation. The prevalence of the 308 TNF-alpha polymorphism was similar in patients and controls, whereas the prevalence of the 238 polymorphic allele was significantly lower in patients (3% versus 16%; P =.002). A lower prevalence of cirrhosis was observed in patients with TNF-alpha polymorphism than in those without it (4 of 15 [27%] versus 28 of 49 [57%]), but the difference was not significant (P =.07). In nonhomozygotes for the C282Y mutation, severe liver siderosis was less prevalent in patients with the 308 polymorphism than in those without it (P =.05). Alanine aminotransferase (ALT) values were significantly lower in patients with TNF-alpha polymorphism (P =.006), even when patients with other hepatotoxic factors were excluded. Multivariate analysis showed that TNF-alpha polymorphism was independently associated with ALT values (P =.0008 and P =.045, respectively, in homozygotes and nonhomozygotes for the C282Y mutation) and siderosis in nonhomozygotes (P =.047). Thus, TNF-alpha appears to play a role in HHC by modulating the severity of liver damage. (Blood. 2001;97:3707-3712)

Adult↗
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

Bone mineral density and body composition in ulcerative colitis: a six-year follow-up.

Reduced bone mineral density (BMD) has been reported in ulcerative colitis (UC), but there are no data concerning body composition (fat and lean mass) in such patients. We used whole body dual-energy X-ray absorptiometry (Hologic QDR 1000 W) at baseline and after 6 years of follow-up to study bone density, and fat and lean mass in 43 outpatients with mild UC (21 men, mean age 36 years, range 21-57 years, and 22 women, mean age 35 years, range 23-45 years at baseline; disease extent: 2 proctitis, 18 proctosigmoiditis, 8 left colitis, 5 substantial colitis, 10 pancolitis; mean disease duration 8 years, range 2-18 years; no hospitalization; few relapses during the follow-up) and 111 healthy volunteers matched by sex, age and body mass index. There were 5 drop-outs. We observed no significant difference in BMD, or fat and lean mass between the male patients and controls at baseline or after 6 years. The total lean mass (Z-score = -3.2, p = 0.001) and trunk lean mass (Z-score = -2.01, p = 0.03) of the female patients were lower than those of the controls at baseline, whereas their limb lean mass was higher at both the beginning and the end of the study (Z-score = 2.14, p = 0.03; Z-score = 2.8, p = 0.004, respectively). At baseline there was a significant negative correlation between lifetime steroid intake (enteral and parenteral) and lumbar spine BMD, obtained as whole body subregion (r = -0.53, p = 0.0006). After 6 years there was a significant negative correlation in women between whole body and lumbar spine BMD and both steroid intake (r = -0.53, p = 0.01; and r = -0.62, p = 0.003) and the number of relapses (r = -0.49, p = 0.02; and r = -0.44, p = 0.05). Mild UC thus does not represent a risk factor for osteopenia per se. The differences in lean mass between the female patients and controls do not seem to be clinically relevant.

Absorptiometry, Photon↗
PubMed2001

Liver cancer risk is increased in patients with porphyria cutanea tarda in comparison to matched control patients with chronic liver disease.

BACKGROUND/AIMS: Patients with porphyria and chronic liver disease could be at high risk of developing hepatocellular carcinoma. To define the incidence of primary liver cancer and identify variables associated with the risk of cancer in patients with porphyria cutanea tarda in comparison to control patients. METHODS: Fifty-three patients with porphyria cutanea tarda were enrolled in a prospective study (median follow-up 72 +/- 54.1 months; range 12-216) and matched individually to a control case according to age (+/-5 years), sex, duration of follow up (+/- 5 years), severity of liver disease, and hepatitis C virus infection. RESULTS: During follow-up hepatocellular carcinoma developed in 18 patients with porphyria and in four control patients. Incidence of primary liver cancer was 4.8 and 1.3 x 100 patients/year in the overall series of patients and of controls, respectively. The cumulative probability of being tumor free was significantly lower in porphyria cutanea tarda than in matched controls (75 vs 95%). Variables independently associated with the risk of liver cancer were the presence of porphyria and cirrhosis at enrollment (Odds ratios: 5.3, 95% CI 1.4-19.3 and 3.0, 95% CI 1.2-7.6, respectively). CONCLUSIONS: Patients with porphyria are at higher risk of developing liver cancer than matched control patients.

Case-Control Studies↗
PubMed2001

Changes in self-reported family history of breast cancer with change in case-control status.

In order to study recall bias in self-reported family history of breast cancer, we selected a sample of cases and controls from a case-control study nested in a cohort, and compared family history reported in a questionnaire at enrollment, and after the development of the disease. We assessed whether changes occurred in self-reported familial breast cancer due to a change in health status in women who developed breast cancer. The kappa of agreement for maternal history of breast cancer was 0.92 in cases, and 1.00 in controls; the kappa for history of breast cancer in sisters was 0.65 in cases, 0.88 in controls. By comparing two questionnaires collected before the diagnosis of the cases (index date), and one questionnaire administered after the index date, we were able to assess that the changes in answer observed among the cases were recorded in the second questionnaire before the index date, and therefore were independent from the diagnosis of cancer. The study seems to suggest that change in recall is of limited importance when collecting family history of first degree relatives, and that women recall the health history of their mother better than the health history of their sisters.

Adult↗