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C Magnani

Publications and source records attributed to C Magnani.

At least 19 recordsLinked to original sources
PubMed2006

Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study.

Differences in response to carcinogenic agents are due to the allelic variants of the genes that control it. Key genes are those involved in the repair of the DNA damage caused by such agents. This paper describes the results of a case-control epidemiological study designed to determine the genotypes of four of these genes in persons exposed to a single genotoxic factor, i.e. asbestos, who had or had not developed malignant mesothelioma (MM). Our working hypothesis was that an imperfect DNA repair, as revealed by subtle polymorphic variants, could reduce protection against the chronic DNA insult provoked by asbestos and eventually result in mutagenesis and cancer. Seven variants (i.e. XRCC1-R399Q-NCBI SNP, XRCC1-R194W, XRCC3-T241M, XRCC3-IVS6-14, XPD-K751Q, XPD-D312N, OGG1-S326C) were investigated in 81 patients and 110 age and sex-matched controls, all residents at Casale Monferrato, a Piedmontese town highly exposed to asbestos pollution. Unconditional multivariable logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs). When considered as a categorical variable, XRCC1-399Q showed an increased OR both in heterozygotes (OR=2.08; 95% CI=1.00-4.33) and homozygotes (2.38; 95% CI=0.82-6.94), although individual ORs were not significant. When it was considered as a continuous variable OR was significant (OR=1.68; 95% CI: 1.02-2.75). When genotypes were divided into "non-risk" and "risk" genotypes, i.e. those thought to be associated with increased risk in the light of the functional significance of the variants, XRCC1-399Q (Q homozygotes+Q/R heterozygotes versus R homozygotes) had an OR=2.147 (95% CI: 1.08-4.28), whereas that of XRCC3-241T (T homozygotes+M/T heterozygotes versus M homozygotes) was 4.09 (95% CI: 1.26-13.21) and that of OGG1-326C was increased, though not significantly. None of the haplotypes showed a significantly different frequency between patients and controls. This is the first report of an association between polymorphisms in DNA repair genes and asbestos-associated MM. Our data indicate that genetic factors are involved in MM development.

Aged↗
PubMed2005

Life expectancy as an indicator of outcome in follow-up of population-based cancer registries: the example of childhood leukemia.

BACKGROUND: Survival analysis is a standard methodology to assess progress in oncology disease treatment. However, survival analysis commonly only measures survival during the treatment period (and the period immediately afterwards), and does not provide an estimate of life expectancy, which is often of more interest to patients and to health policy makers. In this paper we propose a method to estimate childhood acute lymphoblastic leukemia (ALL) life expectancy through the integration of traditional survival analysis and life expectancy tables. PATIENTS AND METHODS: The study included 305 incident cases registered by the Childhood Cancer Registry of Piedmont in 1979-1991. Vital status on 30 June 2004 was known for 304 cases. Survival analyses were carried out using the Kaplan-Meier method and the Gompertz model, according to the time period of diagnosis and gender. RESULTS: Cumulative survival at 5 years increased from 58.6% (95% CI 48.9-68.3) for cases diagnosed in March 1979-July 1982 to 79.1% (95% CI 70.8-87.5) in March 1987-February 1991 (P = 0.002). Average life expectancy increased from 46.1 years for boys and 42.6 years for girls diagnosed in March 1979-July 1982 to 58.3 and 69.1, respectively, in March 1987-February 1991. CONCLUSIONS: These analyses show an improvement over the time period of diagnosis of life expectancy for children with ALL.

Adolescent↗
PubMed2005

Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus.

OBJECTIVE: To test the association of osteopontin (OPN) polymorphisms with systemic lupus erythematosus (SLE). METHODS: The coding 5' and 3' flanking regions of the OPN gene were scanned for polymorphisms by denaturing high-performance liquid chromatography. A case-control association study was performed in 394 Italian SLE patients and 479 matched controls. OPN serum levels were determined by enzyme-linked immunosorbent assay in 40 patients and 124 controls, and the mean levels were compared between the different OPN genotypes. RESULTS: Among the 13 detected single-nucleotide polymorphisms (SNPs), alleles -156G (frequency 0.714 versus 0.651; P = 0.006, corrected P [P(corr)] = 0.036) and +1239C (0.377 versus 0.297; P = 0.00094, P(corr) = 0.0056) were significantly increased in the SLE patients compared with the controls. The presence of the associated allele in single or double dose conferred an odds ratio (OR) of 2.35 (95% confidence interval [95% CI] 1.38-4.02) for SNP -156 and an OR of 1.57 (95% CI 1.16-2.13) for SNP +1239. These effects were independent of each other, i.e., not a consequence of linkage disequilibrium between the 2 alleles. The risk associated with a double dose of susceptibility alleles at both SNPs was 3.8-fold higher (95% CI 2.0-7.4) relative to the complete absence of susceptibility alleles. With regard to individual clinical and immunologic features, a significant association was seen between lymphadenopathy and -156 genotypes (overall P = 0.0011, P(corr) = 0.046). A significantly increased OPN serum level was detected in healthy individuals carrying +1239C (P = 0.002), which is indicative of an association between the SLE susceptibility allele and OPN levels. CONCLUSION: These data suggest the independent effect of a promoter (-156) and a 3'-untranslated region (+1239) SNP in SLE susceptibility. We can speculate that these sequence variants (or others in perfect linkage disequilibrium) create a predisposition to high production of OPN, and that this in turn may confer susceptibility to SLE.

Disease Susceptibility↗
PubMed2005

Acquired glucose sensitivity of k-ras transformed fibroblasts.

Mutational activation of the ras gene is critical for the onset of different malignant phenotypes. We constructed a dominant negative mutant (GEF-DN) of a Ras activator protein (guanine nucleotide-exchange factor) that upon over-expression in k-ras transformed NIH 3T3 fibroblasts strongly reduces intracellular Ras*GTP, reverting these cells to wild-type phenotype for morphology, anchorage-independent growth and reduction of tumour formation in nude mice. Here we review evidence showing that the enhanced proliferation potential of NIH-ras cells requires high initial glucose concentration in the medium and sustained Ras pathway activation. The exquisite sensitivity of NIH-ras fibroblasts to a shortage in nutrient and energy supply highlights an acquired fragility of cancer cells that may be exploited for therapeutic purposes.

Animals↗
PubMed2005

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC--MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.

Abnormalities, Multiple↗
PubMed2004

A rare case of multiple congenital epulis.

We report a case in a female newborn infant of multiple congenital epulis, i.e. granular cell tumor, that was undetected during regular pregnancy ultrasound monitoring. At birth the neoplasms appeared as two voluminous lesions protruding from the newborn's mouth. The greater of them (5.5 cm x4 cm x3 cm) was pedunculated and attached to the external superior gingiva, shifting the alae nasi and making it difficult to enter the coanae. The second mass was somewhat smaller (3 cm x4 cm x2.5 cm), pedunculated and attached to the external inferior gum. A third smaller mass was less evident, unpedunculated and attached to the rim of the lower gingiva. Histologically the lesions were characterized by large cells, which had abundant pale acidophilic granular cytoplasm. A round-oval nucleus was located centrally. The cell membranes were distinct. Neither mitosis nor necrosis was found. Staining for cytoplasmic granules was intensely periodic acid-Schiff (PAS) positive and diastase resistant. Immunohistochemical negativity for S100 protein, positivity for lysozyme and numerous phagolysosomes in the cytoplasm of neoplastic elements, observed on ultrastructural examination, supported the hypothesis that the congenital type of granular cell tumor cannot have a Schwannian origin like that of the adult type, but is probably a mesenchymal lesion which, for unknown cause, regresses by a degenerative process.

Diagnosis, Differential↗
PubMed2003

Population-based survival after childhood lymphoblastic leukaemia in time periods corresponding to specific clinical trials from 1979 to 1998--a report from the Childhood Cancer Registry of Piedmont (Italy).

This study evaluated the outcome after childhood acute lymphoblastic leukaemia (ALL) in a population aged 0-14 years served by the Childhood Cancer Registry of Piedmont (CCRP) during the accrual periods to nationwide clinical studies run by the Italian Association for Paediatric Haematology and Oncology (AIEOP). In the time period considered (March 1979-December 1998) the CCRP recorded 498 incident cases of ALL. The living status on 31 December 2000 was known for 497 cases. Overall survival at 5 years was 74.1% standard error (S.E.) 2.0%). It increased from 58.6% (S.E. 4.9%) for cases diagnosed in March 1979-July 1982 to 87.3 (S.E. 3.6) in May 1995-December 1998. Results observed from data in our population-based study in Piedmont were similar to those presented in the nationwide clinical trials. Survival was better (statistically significant) for children aged 1-4 years, with a white blood cell (WBC) count lower than 10 000 x 10(3) cells/litre and for B-precursor ALL. Differences by immunophenotype were statistically significant only in the univariate analyses. Girls showed a non-statistically significant survival advantage over boys. Results of the present study show the impact on the population of recent clinical trials and emphasise the role of population-based cancer registries in evaluating childhood cancer care delivery in a given population.

Adolescent↗
PubMed2003

Congenital heart defects: 15 years of experience of the Emilia-Romagna Registry (Italy).

OBJECTIVES: Collection and assessment of data from the Emilia-Romagna Region on the occurrence of congenital heart defects in order to identify an homogeneous group of patients for further aetiologic and genetic studies. MATERIALS AND METHODS: The present study is based on 1549 stillborn and live born babies affected by congenital heart defect out of 330,017 consecutive births (4.7 per 1000). RESULTS: The frequency and type of congenital heart defects have been identified together with the sex ratio, associated extracardiac anomalies, chromosomal anomalies and the risk of precurrence in relatives. The impact of prenatal diagnosis on prevalence was low during the study period. CONCLUSIONS: The study has provided epidemiological data for public health surveillance of congenital heart defects in the Emilia-Romagna region. The creation of a system for the nationwide recording of congenital heart defects designed with regard to the sources of ascertainment, the diagnostic criteria, and the system of classification is emphasised.

Female↗
PubMed2003

Childhood cancer survival in Europe.

BACKGROUND: EUROCARE-3 collected data from 45 population-based cancer registries in 20 countries on 24 620 European children aged from 0 to 14 years diagnosed with malignancy in the period 1990-1994. METHODS: Five-year survival between countries was compared for all malignancies and for the major diagnostic categories, adjusting for age, and estimated average European survival weighting for differences in childhood populations. RESULTS: For all cancers combined, survival variation was large (45% in Estonia to 90% in Iceland), and was generally low (60-70%) in eastern Europe and high (> or =75%) in Switzerland, Germany and the Nordic countries (except Denmark). The Nordic countries had the highest survival for four of the seven major tumour types: nephroblastoma (92%), acute lymphoid leukaemia (85%), CNS tumours (73%) and acute non-lymphocytic leukaemia (62%). The eastern countries had lowest survival: 89% for Hodgkin's disease, 71% for nephroblastoma, 68% for acute lymphoid leukaemia, 61% for non-Hodgkin's lymphoma, 57% for central nervous system (CNS) tumours and 29% for acute non-lymphocytic leukaemia. CONCLUSIONS: The Nordic countries represent a survival gold standard to which other countries can aspire. Since most childhood cancers respond well to treatment, survival differences are attributable to differences in access (including referral and timely diagnosis) and use of modern treatments; however, the obstacles to access and application of standard treatments probably vary markedly with country.

Adolescent↗
PubMed2002

Viral etiology of gingival recession. A case report.

Herpes simplex virus-type I (HSV-1) is responsible for both primary and recurrent infections of the oral mucosa. The aim of this case report is to show how HSV-1 may cause periodontal damage such as gingival recession. A 26-year-old male patient presented in a private office for the treatment of gingival recessions. He reported that the recessions had appeared suddenly with marginal inflammation of the gingiva and vesicle formation; within a few hours, the gingival tissue had been completely destroyed. The lesions were accompanied by pain, fever, and regional lymphadenopathy. Two weeks later, the patient returned complaining of a recurrence accompanied by pain and lymphadenopathy. The following day, the patient's condition had worsened and the depth of the recession had increased. A biopsy was taken for histological examination. A free epithelial-connective tissue graft was performed. Histological and direct immunofluorescence examinations confirmed the herpetic origin of the lesion. Eight months after surgery, a new herpetic lesion was detected in correspondence to the gingival margin of the first lower right premolar; therefore, acyclovir was prescribed. After 1 week, the antiviral therapy was completely successful; the gingival lesion disappeared, and no recession of the soft tissue margin was observed. Based on these clinical features, diagnosis of gingival recession induced by HSV-1 must be carried out at an early stage to establish a successful therapy.

Acyclovir↗
PubMed2001

Survival trends of childhood cancer diagnosed during 1970-1994 in Piedmont, Italy: a report from the Childhood Cancer Registry.

BACKGROUND: The Childhood Cancer Registry of Piedmont (CCRP) started its activity in 1967. It is population based and covers the Piedmont Region (population 4,500,000; NW Italy). This article reports on time trends in survival after a childhood cancer diagnosed during 1970-1994. PROCEDURE: During 1970-1994, 2,329 incident cases were registered at CCRP on the basis of histological and/or clinical information, excluding 30 cases reported only by death certificate. Histological or hematological diagnosis was available for 2,067 cases. Vital status was assessed through the offices of the town of residence. At the end of follow-up, 1,202 cases were alive, 1,084 dead and 43 were not traceable. Survival was measured for the major diagnostic groups using both univariate and multivariate statistics. RESULTS: The 5-yr survival rate for acute lymphoblastic leukemia (ALL) improved regularly from 24.7% in 1970-1974 to 81.1% in 1990-1994, for acute nonlymphoblastic leukemia (ANLL) from 0% to 38.1%, for non-Hodgkin lymphoma (NHL) from 25.2% to 67.7%, for tumors of the central nervous system (CNS) (all types) from 33.4% to 75.9% and for Ewing tumor from 0% to 90%. Focusing on survival by period of diagnosis, the highest 5-year survival rate was observed for children diagnosed during 1985-1989 for medulloblastoma, neuroblastoma (NB), retinoblastoma, Wilms tumor, osteosarcoma, and rhabdomyosarcoma and for children diagnosed in 1990-1994 for the remaining sites. The trend over time was statistically significant for ALL, ANLL, NHL, CNS tumors, NB, and osteosarcoma as well as for all malignancies together. CONCLUSIONS: Population-based survival studies are useful complements to clinical studies. Survival results in the present study are similar to those presented for other European countries and the United States. For most types of neoplasm (except CNS) survival probability appears to stabilize 5-10 years after diagnosis.

Adolescent↗
PubMed2001

Survival of childhood lymphomas in Europe, 1978--1992: a report from the EUROCARE study.

In most developed countries, malignant lymphomas account for 10--15% of all cancers occurring among children aged 0--14 years. The present study estimates survival after a diagnosis of lymphoma in childhood, based on the EUROCARE II database which includes 34 population-based cancer registries from 17 European countries. The survival pattern of children with malignant lymphoma diagnosed in 1985--1989 is reported, as well as the time trends since 1978. The analyses focus on Hodgkin's disease (HD, 1696 cases) and on non-Hodgkin's lymphoma (NHL, 2255 cases including Burkitt's lymphoma and unspecified lymphomas). For HD, the European weighted average 5-year survival rate was 93% (95% confidence interval (CI) 82--98) in 1985--1989. The survival rates were not affected by either age or gender. 5-year survival rates ranged from 68% (95% CI 34--90) in Estonia to 96% (95% CI 92--98) in Germany and 100% (95% CI 57--100) in Slovenia. Multivariate analyses for the time period 1978--1989 gave little suggestion of an improvement in survival over the later time periods of diagnosis. For NHL, the European weighted average 5-year survival rate was 74% (95% CI 67--80) in 1985--1989. Gender did not influence the survival rate. Children in the age group 0--4 years had a poorer prognosis compared with older cases (5-year rate: 66% versus 77% in the pool). 5-year survival rates ranged from 53% (95% CI 30--76) (Estonia) to 83% (95% CI 62--94) in France and 83% (95% CI 66--92) in Scotland. Multivariate analysis show a decreasing HR for the more recent periods of diagnosis from 1 in 1978--1981 to 0.67 (95% CI 0.56--0.79) in 1982--1985 to 0.48 (95% CI 0.40--0.57) in 1986--1989. Exploratory analysis, conducted including the cancer registries which provided cases diagnosed until 1992, show a positive trend over time for both types of lymphoma.

Adolescent↗
PubMed2001

Survival of children with neuroblastoma. time trends and regional differences in Europe, 1978--1992.

Neuroblastoma is one of the most common solid cancers in children. We present the data collected for the EUROCARE II study, describing survival patterns for children diagnosed in Europe 1985--1989 in detail, and exploring time trends from 1978 to 1992. On average, the mean 5-year survival rate was considerably higher in infants (79%) compared with older children (30--33%). The risk of death has dropped by 37% from 1978--1981 to 1990--1992. There is a pronounced difference between countries, with Scotland and England and Wales having two of the lowest survival rates (28% (95% confidence interval (CI) 14--48) and 36% (95% CI 31--41) 5-year survival rates, respectively). The survival rates in France, Germany and Italy (48--66% 5-year survival rate) were among the highest. This pattern corresponds to the incidence rates for these countries. It can be assumed that in neuroblastoma, both incidence and survival are related to the frequency of diagnosing asymptomatic cases with good prognosis among infants. However, one cannot ignore possible intercountry differences in the effectiveness of therapy.

Adolescent↗
PubMed2001

Survival of children with soft-tissue sarcoma in Europe since 1978: results from the EUROCARE study.

Soft-tissue sarcomas account for 5--8% of all childhood cancers in European countries. In the EUROCARE childhood cancer study, there were 2163 registrations from 17 countries for soft-tissue sarcomas in patients aged 0--14 years during 1978--1989. Of this total, three-quarters were contributed by childhood cancer registries in Germany and the UK. Age-standardised 5-year survival rates of children diagnosed during 1985--1989 were 65% (95% confidence interval (CI) 56--72) for rhabdomyosarcoma, 68% (95% CI 58--77) for fibrosarcoma, 78% (95% CI: 64--87) for other specified soft-tissue sarcomas except Kaposi's and 51% (95% CI 37--65) for 'unspecified' soft-tissue sarcomas. Survival rates increased steadily throughout the 12-year study period for all soft-tissue sarcomas combined, but the increase took place predominantly in the early 1980s for rhabdomyosarcoma. Improvements in survival which had previously been reported from individual countries and in clinical series are confirmed as having taken place throughout much of Europe on a population basis. In a supplementary analysis, there was little indication of a further improvement during 1990--1992.

Adolescent↗
PubMed2001

Survival of children with liver tumours in Europe 1978--1989.

Hepatic tumours are rare in childhood. Within the frame of the EUROCARE II study, a total of 328 liver tumours in patients aged 0--14 years were reported during the period 1978--1989. The childhood cancer registries in UK and Germany contributed approximately a third of the cases each. Hepatoblastoma accounted for 71% of cases. The 5-year survival was 36% 95% confidence interval (CI) 28--46%, with no significant difference between the genders. Patients aged 10--14 years did worse, especially boys. Survival improved significantly during the study period. Survival in hepatocellular carcinoma was lower, 20% (95% CI 6--52%), and showed no improvement during the study period.

Adolescent↗
PubMed2001

Childhood malignancies in the EUROCARE study: the database and the methods of survival analysis.

This paper describes the database of children with cancer in the EUROCARE study and the methodology used to analyse and report survival. This is the first systematic evaluation of survival after childhood cancer on a large scale in Europe: approximately 45,000 cases were included, diagnosed between 1978 and 1992 (34,814 cases diagnosed in 1978--1989 and an additional set of 9495 cases diagnosed in 1990--1992) and followed-up until 1995. Data were provided from 34 population-based registries (four specialised for childhood cancer registrations and one specialised registry for childhood leukaemia) in 17 countries of Europe (where there was national coverage in 10 countries). Quality of the data was fairly good, given the general differences among the countries and their health systems, thereby allowing for comparisons between them. Among cases diagnosed in 1978--1989, overall 2.0% were lost to follow-up, 91.8% were microscopically diagnosed and 93.4% of alive cases had at least 5 years of observation. Survival proportions (observed survival) were calculated for each of the countries involved, by age group (0, 1--4, 5--9, 10--14 years), gender, different time periods and selected diagnostic groups. Age-standardised cumulative survival rates and European averages (weighted and pooled) were also computed. Cox regression models were used to evaluate geographical and temporal differences. The EUROCARE database represents a unique source of information on survival of childhood cancer patients in Europe, intercountry differences and time trends in survival.

Adolescent↗