Biomedical subjects

Sonia Brescianini

Publications and source records attributed to Sonia Brescianini.

10 recordsLinked to original sources

PubMed2006

Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men.

Recently, we described the association of genetic variation in the discs large homolog 5 (DLG5) gene with inflammatory bowel disease (IBD) in a large European study sample (Stoll et al. in Nat Genet 36:476-480, 2004). Here, we report that the R30Q variant constitutes a susceptibility factor for Crohn disease (CD) in men [odds ratio (OR)=2.49, 95% confidence interval (CI) 1.53-4.06, P<0.001] but not women (OR=1.01, 95% CI=0.70-1.45, P=0.979) using multivariate logistic regression analyses in a unified study sample from Germany, Italy and Quebec. R30Q is a significant predictor for CD in men even when accounting for CARD15 and IBD5 risk variants (adjusted OR=2.41, 95% CI=1.41-4.12, P=0.001). The observed association is driven by a gender-dependent transmission ratio distortion (TRD) among healthy controls (frequency of Q allele: men 5.2%, women 11.3%), an effect that is offset in CD patients (frequency of Q allele: men 10.1%, women 10.9%). This finding is further substantiated by two non-IBD study samples, one of which consists of a newborn screening sample (newborn males 7.1%; newborn females 11%, P=0.036). Further investigation of the observed TRD may contribute towards enlightening the role of DLG5 in physiological processes influencing transmission of chromosomes to the surviving offspring, which, in turn, may help in understanding its implication in the development of CD among men.

Adult↗

PubMed2006

[Statistical methods for the analysis of twin data].

The most important statistical methods currently used for the analysis of twin data are described. The main objective of these methods is to estimate the contribution of the genetic and environmental factors to the variability of normal or pathological human traits, by means of the information obtained from monozygotic and dizygotic twin pairs. In this context, the concept of heritability becomes relevant. Not only the simple comparison between monozygotic and dizygotic twins, based on measures such as the concordance and the correlation, but also new and more complex approaches are presented, with a special emphasis on the structural equation models, and a synthetic view on the DF-analysis and the correlated frailty models. Some examples of applications to the data of the Italian Twin Registry are also illustrated.

Data Interpretation, Statistical↗

PubMed2005

Metals and oxidative stress in patients with Parkinson's disease.

Twenty-six metals and the oxidative status in 71 patients affected by Parkinson's disease and 44 healthy individuals were compared in order to identify potential biomarkers of the disease. In the patients, the following significant imbalances were found (p < or = 0.05): i) in serum, an increment of Ca, Mg, Ni, Si and V, and a decrement of Cd, Co, Fe, Li, Sn, Zn and Zr; ii) in blood, raised levels of Co, Li, Ni and Si and decreased of Al, Be, Ca, Cd, Fe, Mg, Mo, Sn, Zn and Zr; iii) increased formation of oxidant species and lowered anti-oxidant capacity (p < or = 0.001 for both). Barium, Bi, Cr, Cu, Hg, Mn, Pb, Sb, Sr, Tl and W did not change with the disease. The best discriminating variables between patients and controls were Cd, Co, Fe, Ni and Si in serum (91.2% of cases correctly classified), and Al, Cd, Co, Fe, Mo and Si in blood (98.2% of cases properly classified).

Aged↗

PubMed2005

Discriminant analysis to study trace elements in biomonitoring: an application on neurodegenerative diseases.

Quantification of 26 elements was performed in blood of patients affected by neurodegenerative pathologies, i.e., Alzheimer's disease (AD), Parkinson's disease (PD) and multiple sclerosis (MS), and of a control group to study the potential role of blood elements as markers for the different neurodegenerations. A multivariate discriminant analysis (stepwise method) was applied to determine the best set of variables to discriminate among subjects with different health status. Preliminary results show three classification functions of seven elements, namely Ca, Co, Cu, Fe, Ni, Pb and Zr.

Adult↗

PubMed2004

Risk factors and health determinants in older Italians.

BACKGROUND AND AIMS: According to a WHO estimate, 50% of the total burden of diseases in men and 25% in women for the EURO-A group (which includes the highly developed countries of the WHO European Region) are attributable to unhealthy life-styles. The aim of the present study was to analyze anthropometric, biochemical and behavioral risk factors using data from the Italian Longitudinal Study on Aging (ILSA), a population-based study of older Italians initiated in 1992 to study those chronic conditions and attendant risk factors that contribute most substantially to morbidity, disability and mortality. METHODS: In this descriptive study, we calculated the means and distribution of risk factors in a sample of 5632 Italian subjects aged 65-84 by gender, age class and geographic area, and identified the proportion of these subgroups at higher risk. Analyses include data from the first (1992-93) and second (1995-96) examinations of this cohort. RESULTS: Over 64% of older Italian participants were overweight in 1992. More than 70% had blood pressure in the borderline or definitely hypertensive range, and almost one-third had hyperlipidemic serum cholesterol levels, including subjects receiving treatment for these conditions. Based on Body Mass Index, more women than men were obese (27 vs 15%) and more women than men were hyperlipidemic in all age classes (38 vs 23%). Approximately 13% of the sample had glucose levels exceeding the recommended 126 mg/dL. Men were found to consume on average about 41 grams of alcohol daily and women 17 g/d. Lastly, we found that approximately 20% of men and 8% of women were smokers in 1992 but that smoking tended to diminish with age. CONCLUSIONS: As the Italian population rapidly ages, the burden of disease and disability is increasing, necessitating more focused, immediate and effective prevention programs. We have identified a number of critical concerns ripe for intervention. The results of this study can better focus such efforts and help guide long-term health planning and policy.

Aged↗

PubMed2003

Low total cholesterol and increased risk of dying: are low levels clinical warning signs in the elderly? Results from the Italian Longitudinal Study on Aging.

OBJECTIVES: To analyze the relationship between serum total cholesterol (TC) and all-cause mortality, taking into account various potential confounders. DESIGN: Population-based prospective cohort study. SETTING: Older Italians residing in the general community. PARTICIPANTS: Four thousand five hundred twenty-one men and women aged 65-84. MEASUREMENTS: Vital status data were available for 1992-95. The hazard ratios of dying for subjects in the second, third, and fourth quartiles compared with the first quartile of TC were computed using Cox proportional hazards, adjusting for lifestyle factors, anthropomorphic and biochemical measures, preexisting medical conditions, and frailty indicators. RESULTS: Blood samples were obtained from 3,295 (73%) of the participants, of whom 399 died during almost 3 years of follow-up. Low TC was associated with a higher risk of death. Those with TC in the second, third, and fourth quartiles (TC>189 mg/dL or 4.90 mmol/L) had lower hazard ratios (HRs) of death than subjects in the first quartile (0.57, 95% confidence interval (CI) = 0.38-0.87; 0.56, 95% CI = 0.36-0.88; and 0.53, 95% CI = 0.33-0.84, respectively). Few subjects taking lipid-lowering drugs (LLDs) were in the lowest quartile of cholesterol, suggesting that these individuals have low TC values for reasons other than LLD use. CONCLUSION: Subjects with low TC levels (<189 mg/dL) are at higher risk of dying even when many related factors have been taken into account. Although more data are needed to clarify the association between TC and all-cause mortality in older individuals, physicians may want to regard very low levels of cholesterol as potential warning signs of occult disease or as signals of rapidly declining health.

Aged↗

PubMed2002

Impact of end user involvement in implementing guidelines on routine pre-operative tests.

OBJECTIVES: To assess the impact of health professionals' involvement in the implementation of practice guidelines aimed at reducing the use of pre-operative tests in patients at low anaesthetic risk undergoing elective surgery. INTERVENTION: A 6 month (September 1997 to February 1998) strategy based upon organization of local meetings involving health professionals from six hospitals of Canton Ticino (Switzerland). DESIGN: Observational study (pre/post) of pre-operative test utilization between March 1996 and December 1998. SUBJECTS AND METHODS: A total of 17,978 patients admitted for elective surgery over the study period. The latter was modelled in six intervals, three before (baseline), one during, and two after (adoption) guidelines implementation, respectively. For each time interval the proportion of patients undergoing pre-operative tests was estimated. Multilevel logistic regression analysis was used to assess patient likelihood [expressed as the odds ratio (OR)] of undergoing a diagnostic test in each period, using the implementation interval as the reference category. MAIN OUTCOME MEASURE: Change in patient probability of undergoing pre-operative tests in the adoption interval. RESULTS: Adoption of the recommendations was associated with 81% [OR = 0.19; 95% confidence interval (CI) 0.15-0.23] reduction of patient probability of undergoing coagulation test, 73% (OR = 0.27; 95% CI 0.23-0.33) for glycaemia, 62% (OR = 0.38; 95% CI 0.33-0.44) for azotaemia, 57% (OR = 0.43; 95% CI 0.36-0.51) for chest X-ray, 49% (OR = 0.51; 95% CI 0.44-0.60) for creatinemia, and 43% (OR = 0.57; 95% CI 0.48-0.69) for ECG. Overall, these findings corresponded to a cost saving of 67,890 Swiss francs (US$42,000) for the last quarter under study. CONCLUSIONS: This study indicates that an implementation strategy based upon direct involvement of end users in the identification of possible barriers to change can be successful in promoting the use of practice guidelines.

Adolescent↗

PubMed2002

The Italian Twin Project: from the personal identification number to a national twin registry.

The unique opportunity given by the "fiscal code", an alphanumeric identification with demographic information on any single person residing in Italy, introduced in 1976 by the Ministry of Finance, allowed a database of all potential Italian twins to be created. This database contains up to now name, surname, date and place of birth and home address of about 1,300,000 "possible twins". Even though we estimated an excess of 40% of pseudo-twins, this still is the world's largest twin population ever collected. The database of possible twins is currently used in population-based studies on multiple sclerosis, Alzheimer's disease, celiac disease, and type 1 diabetes. A system is currently being developed for linking the database with data from mortality and cancer registries. In 2001, the Italian Government, through the Ministry of Health, financed a broad national research program on twin studies, including the establishment of a national twin registry. Among all the possible twins, a sample of 500,000 individuals are going to be contacted and we expect to enrol around 120,000 real twin pairs in a formal Twin Registry. According to available financial resources, a sub sample of the enrolled population will be asked to donate DNA. A biological bank from twins will be then implemented, guaranteeing information on future etiological questions regarding genetic and modifiable factors for physical impairment and disability, cancers, cardiovascular diseases and other age related chronic illnesses.

Aging↗

PubMedDate not supplied

Association between heterozygosity for HFE gene mutations and hepatitis viruses in hepatocellular carcinoma.

Hepatitis B virus (HBV) and hepatitis C virus (HCV) infections are strong and independent risk factors for hepatocellular carcinoma (HCC) development. Patients with hereditary hemochromatosis (HH) are considered at risk of developing cancer. However, the interaction between HFE gene mutations and hepatitis viruses for HCC development has not been systematically searched for. To assess the interaction between HFE gene mutations and exogenous risk factors in the risk of HCC occurrence, a case-only approach, in which just a series of patients is enrolled, was used. Three hundred three cirrhotic patients (231 males, 72 females) from five liver units in different geographic areas of Italy, who developed HCC during regular follow-up between January 1999 and March 2003, and whose blood DNA was available, were analyzed. In all subjects, hepatitis B surface antigen (HBsAg), anti-HCV and HFE gene mutations were assayed; alcohol intake was recorded by history. The interaction between HFE genotypes and hepatitis viruses for HCC was estimated by multivariate analysis adjusting for the confounding effect of alcohol intake, area of residence and months of follow-up. Of the 303 HCC cases, 12 (4.0%) were heterozygous for the C282Y mutation, 93 (30.7%) for the H63D, and 198 (65.3%) homozygous for the wild allele. Multivariate analysis showed that C282Y heterozygous males were 3.8-fold (95% CI=1.0-15.2) more likely to be HBV positive and that H63D heterozygous females were 6.0-fold (95% CI=1.2-113.8) more likely to be HCV positive than wild type subjects. In conclusion, given the association between C282Y mutation and HBV infection in male patients with HCC, a careful evaluation and follow-up should be considered in the C282Y-positive subjects with hepatitis B virus related liver disease. The interaction between the H63D mutation and HCV, observed only in women, may reflect a higher sensitivity to H63D-induced iron metabolism abnormalities and a reduced antioxidant capability in the presence of an even minor increase of iron which may occur as a consequence of the coexistence of hepatitis C infection and heterozygosity for HH.

Antibodies, Viral↗

PubMedDate not supplied

[Twins in biomedical research and the creation of the "National Twin Registry"].

Twins are a valuable resource for the study of complex traits. The twin method is substantially based on the comparison between correlations and concordance in monozygotic (MZ) and dizygotic (DZ) twins and allows several applications in biomedical and molecular genetic research. It allows either the qualitative and quantitative evaluation of the influences that genetic and environmental factors exert on phenotypes or the estimation of trait variability. Moreover, classical genetic linkage analysis is more powerful if performed in DZ twins. However, the twin method has some pitfalls, such as the necessity that collected samples be representative of both twin and general population. For this reason, over the last few years, a number of Countries have established population-based twin registers, which guarantee the maximum level of representation and, consequently, are of extreme value for epidemiological studies. Italy is also implementing a national twin register. The following is the description of the procedure that led to the establishment of the Italian Twin Registry.

Databases, Factual↗