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Biomedical subjects

N Cappello

Publications and source records attributed to N Cappello.

At least 37 records · Page 2Linked to original sources

Argyrophilic nucleolar organiser region counts and prognosis in pharyngeal carcinoma.

The prognostic significance of argyrophilic nucleolar organiser regions (AgNORs) has been evaluated in biopsy specimens from 61 primary squamous and undifferentiated carcinomas of the pharynx prior to therapy. The univariate Kaplan-Meyer survival analysis showed a significant correlation between 3- and 5-year survival rates and the mean AgNOR number per tumour cell (P less than 0.001). No significant correlation was found between prognosis and patients age and sex, tumour location, clinical stage, histologic grade, extent of lymphocytic infiltration, HMFG-2 positivity of tumour cells and UCHL1, LN2, MB2 positivity of infiltrating lymphocytes. There was no significant association between AgNOR counts and tumour histologic grade or clinical stage. Multivariate survival analysis showed that only two variables were significantly correlated with prognosis: AgNOR counts (P less than 0.001) and the extent of lymphocytic infiltration (P less than 0.027). Our results indicate the prognostic value of AgNOR counts and suggest the use of this method as a significant parameter in the pretherapeutic assessment of the aggressiveness of pharyngeal carcinomas.

Adult

Radiological visibility of small artificial periapical bone lesions.

Previous studies have indicated that the visibility of periapical lesions on a radiograph is determined by erosion of either the cortex or the junction area between cortex and spongiosa. In the present study, artificial lesions, varying in diameter from 1.6 to 4.5 mm, were produced with a round dental bur at 32 sites in 27 blocks from four dried human mandibles embedded in paraffin and radiographed under standardized conditions. The radiographs were evaluated by three observers with differing degrees of radiological experience, and the results expressed as Mean Visibility Index (MVI) and Mean Difference Index (MDI). Six parameters were measured at each site, thickness of the bone, of the cortex and of the spongiosa, density of the spongiosa, cortex/spongiosa ratio, and erosion of the cortex, and their correlation with the two indices determined by stepwise and multiple regression. It was found that MVI was significantly associated not only with the erosion of the cortex but also the density of the spongiosa and the diameter of the lesion. MDI was found to be associated mainly with cortex erosion.

Alveolar Process

[Anthropometric assessments in dental esthetics].

Various parameters related to the mobility of the upper lip in a sample of 200 patients, have been considered in order to establish the correlation these have with the extent of lip mobility and the relative visibility of their teeth. From this study it was clear that a large number of patients, with a low index of tooth visibility, could benefit, from the viewpoint of their periodontal health, from the application of prosthetic margins above the gums. This would not damage the aesthetic aspect because the margins in question would only be visible with the lips contracted or, in certain patients, never.

Adult

Segregation analysis of dominant osteogenesis imperfecta in Italy.

We have performed linkage analysis in seven Italian families, in which mild osteogenesis imperfecta (OI) segregated as a dominant trait, by means of six DNA restriction fragment length polymorphisms (RFLPs) of type I collagen genes. OI type I was linked to the alpha 1(I) gene (COL1A1) in two families, and to the alpha 2(I) gene (COL1A2) in one family. OI type IV segregated with COL1A2 in two families. In two OI type I families, the molecular genetic data were insufficient for exclusion of one gene. Four DNA polymorphisms were particularly informative for cosegregation analysis of OI in Italian kindreds.

Adult

Regional distribution of cystic fibrosis linked DNA haplotypes in Italy, a collaborative study.

In view of the reported variations of cystic fibrosis (CF) associated haplotypes among populations, a detailed analysis of the distribution of two tightly linked DNA markers (Xv-2c and KM.19) in 18 Italian regions was performed. Haplotypes were determined for 405 CF chromosomes carrying the mutation, and showed significant heterogeneity between the North, Center, and South of Italy and the island of Sardinia. KM.19/PstI Restriction Fragment Length Polymorphism (RFLP) showed significant heterogeneity in these four areas, and was statistically correlated with the geographic distribution of the disease, while Xv-2c/TaqI polymorphism, like the haplotypes of normal chromosomes, was more uniformly distributed over the same four areas. Correlation coefficients between the markers and the mutation have been used to obtain additional indications on the physical distance between the markers and the fibrosis locus.

Cystic Fibrosis

Human IGHC locus restriction fragment length polymorphisms in IgG4 deficiency: evidence for a structural IGHC defect.

In man, IgG4 is the least abundant of the four IgG subclasses, and its serum levels vary considerably from one subject to another. Its deficiency has been thought to lead to recurrent infections; nevertheless, it is also commonly found in healthy individuals (1/400 in the Italian population). In 39 subjects with IgG4 serum levels less than 1 microgram/ml, we used 4 different probes (described in the accompanying study, Bottaro et al., Eur. J. Immunol. 1989. 19: 2151) to examine 13 loci within the IGHC region and analyzed the RFLP for 7 of them. No aberrant restriction patterns were identified in any of the subjects, showing the absence of major IGHC structural alterations. The allele frequency of some loci, however, was significantly different from that of a control group of 95 random subjects. This variation was shown to depend on a selective increase in the number of homozygotes for the associated alleles, that reached significant levels for the IGHGP, G2, PG2, PG4 and SG4 loci, but not for SG1 and A2T. The highest value was reached for alleles in the PG4 region, just 5' of SG4. These data indicate that a minor structural IGHC defect is probably the cause of a significant fraction of IgG4 deficiencies. Moreover, the different association levels of the PG4 and SG4 regions suggest that this defect is likely to lie in an upstream regulatory region rather than in the structural G4 gene.

Gene Frequency

Multifactorial study of prognostic factors in differentiated thyroid carcinoma.

Using survival corrected for intercurrent deaths as an endpoint, the prognostic significance of age, sex, histology, clinical extent of disease, size of primary tumor, type and result of treatment, was assessed in a series of 133 patients with differentiated thyroid carcinomas treated over a 16-year period. The following parameters were shown to be unfavourably related to survival: old age, follicular moderately-differentiated histological type, extrathyroid growth of the primary tumor and/or presence of distant metastases at diagnosis. In patients not cured after surgery, postoperative radioiodine therapy was correlated with, better survival rates. A multivariate statistical analysis (Cox model) showed that tumor stage and age at diagnosis were the major determinants of prognosis. Based on this data a risk index was worked out and three low/intermediate/high risk subgroups, characterized by significantly different survival rates, were identified in the study population.

Adolescent

A genetic history of Italy.

Statistical techniques for displaying the geographical distribution of many genes in few synthetic images have been used to represent the various patterns of gene frequencies in Europe and in the world (Menozzi et al. 1978; Piazza et al. 1981 a). It has also been shown that such synthetic displays are particularly useful in detecting clines of genetic differentiation associated with movements of populations like those accompanying the Neolithic expansion of farmers from the Near East or, in more recent times, the putative diffusion of Indo-European-speaking populations (Ammerman & Cavalli-Sforza, 1984; Gimbutas, 1973). In this paper we use the same combination of statistical and graphical techniques to study the genetic structure of Italy, a European country whose unity of people and cultures was quite a recent event. The possibility of studying genetic differentiation in a small geographical area is tested and trends of genetic differences are tentatively interpreted in terms of historic and linguistic knowledge. The few demographic pieces of information taken from historical sources and compared with linguistic records support the hypothesis that the genetic structure of Italy still reflects the ethnic stratification of pre-Roman times.

Blood Group Antigens

Mitochondrial DNA polymorphism in four Sardinian villages.

Polymorphism of mitochondrial DNA has been studied in two highland (Desulo, Tonara) and in two lowland (Galtellì, Orosei) Sardinian isolates, formerly subjected to different selective pressure due to malaria, and in 103 individuals from Northern Italy (Bergamo area), where malaria never appeared to be endemic. Two mitochondrial restriction endonuclease patterns (morphs) never described before have been found, one in the Bergamo and Orosei samples, and the other one only in Orosei. Four new mitochondrial types (mitotypes) due to different combinations of morphs have been identified; two of them have been found only in Sardinia, but with such a low frequency that they cannot be defined as typical Sardinian mitotypes. One mitotype (BamHI-morph 3, MspI-morph 4, AvaII-morph 9 and HaeII-morph 1) showed a significantly higher frequency in the highland rather than in the lowland Sardinian villages or in the Bergamo area. Since this mitotype has been found at a relatively high frequency in Central and Southern Italy, while it has been reported to be rare in Caucasians of Central European origin and absent in other ethnic groups (Africans, Chinese, Japanese and Israeli Jews), we suggest it may represent an ancient Mediterranean type. The analysis of these data suggests that drift or other evolutive forces different from malaria might be the major cause of mitochondrial DNA variation in Sardinia.

DNA, Mitochondrial

Properdin factor B polymorphism in four Sardinian villages.

A sample of healthy unrelated individuals was typed for properdin factor B (Bf) polymorphism in four Sardinian villages. Two villages, Desulo and Tonara, are located in the highlands; the other two, Orosei and Galtellì, are located in the lowlands. No heterogeneity was found between the highland and the lowland villages, whereas a significant difference was found between the Sardinian villages and continental Italy. The allele Bf-F1 shows the highest gene frequency so far observed. Typically Sardinian is the gametic association (haplotype) HLA-A30, Cw5, B18, BfF1, DR3.

Alleles

Possible role of aldehydic lipid peroxidation products as chemoattractants.

Previous studies showed that the lipid peroxidation product 4-hydroxy-trans-2-nonenal (HNE) stimulates the rat neutrophil oriented migration in vitro within a micromolar range. Its effect is weak with respect to other known chemoattractants, but highly significant on the basis of a two-way analysis of variance. Other hydroxyalkenals were found to be chemotactic within a pico-micromolar range, and their chemotactic power was not correlated to their lipophilicity. The structural requirements for the chemotactic activity of the hydroxyalkenals were studied by testing the influence of alkanals and 2-alkenals on oriented migration. Alkanals are lacking both the trans double-bond and the hydroxy group, while 2-alkenals are lacking only the hydroxy group. The 2-alkenals (2-octenal, 2-nonenal) were found to be chemotactic, whereas alkanals (hexanal, octanal, nonanal) were ineffective. Therefore the chemotactic activity of the aliphatic aldehydes is dependent on the -C = C-CHO part of their molecule. The possibility that unsaturated aliphatic aldehydes are present in an inflammatory site at a concentration at which they are chemotactic in vitro was also investigated. Carbonyls in pleural exudates were analysed at different times after a pleurisy induction and HNE was detected both in the cells and in the cell-free supernant of the exudate at increasing concentrations during the 4 hours of the experiment. The exact source of HNE is unknown, but since HNE has been identified among the degradation products of peroxidized lipids it is likely that this aldehyde is formed consequent on lipid peroxidation reactions which occur at the phlogistic site. The possibility that HNE is involved, at least in part, in the recruitment of neutrophils in the inflammatory area is suggested.

Aldehydes

The HLA system in Italy.

4,902 Italians were typed for HLA-A antigens, 4,721 for HLA-B and 1,503 for HLA-C. The samples, which were composed of unrelated, healthy individuals born in Italy, were used for estimating HLA-A, HLA-B and HLA-C gene frequencies with the maximum-likelihood method. Different Italian regions showed significant differences in the HLA alleles, providing further evidence for the genetic heterogeneity of the Italian population. HLA gene frequencies place continental Italy and Sicily in a position which is similar to that of other Mediterranean populations, whereas the genetic isolation of Sardinia is quite evident. The most significant linkage disequilibrium values found in the Italian population (except for Sardinia) were in agreement with those observed in other Caucasian populations. The difference between Northern and Southern Italy and between continental Italy and Sardinia was emphasized by the linkage disequilibrium values and by the principal-component analysis as well.

Gene Frequency

Spontaneous release of interferon as a predictor of clinical evolution in HIV-positive subjects.

In order to establish a correlation with disease progression we prospectively evaluated ten clinical and immunologic parameters in 102 consecutive HIV-positive subjects. The eight immunologic variables were: in vitro spontaneous interferon release by peripheral blood monocytic cells, alpha- and gamma-interferon production induced by Newcastle Disease Virus and PHA, Multitest Mérieux score, PHA- and CON-A-induced lymphocyte transformation, absolute number of CD4+ cells and CD4/CD8 ratio, respectively. The two baseline clinical variables were risk factor and disease presentation. Generalized Wilcoxon analysis indicated a significant correlation of one clinical (disease presentation at entry) and three immunologic variables (spontaneous interferon release, CD4+ cell number, Multitest Mérieux) with disease progression. Baseline spontaneous release of alpha, acid-labile interferon showed the best correlation with disease progression, and appeared to be significantly associated with CD4+ cell loss. Spontaneous release of acid-labile alpha interferon by mononuclear cells in vitro could be highly predictive of disease evolution in HIV-Ab positive, AIDS-free subjects.

Evaluation Studies as Topic

Population history of Corsica: a linguistic and genetic analysis.

Genetic and linguistic differentiations within Corsica were analysed and compared; the genetic relationships of Corsica to other Mediterranean populations were also studied. Lexical distances between 49 Corsican localities were computed from a standard word list; trees built from these distances were compared with average linkage and neighbour-joining trees of genetic distances. Our lexical distance results confirmed the north/south dialectal subdivision of Corsican speeches described by linguists. No clear results were achieved with genetic distances because of the low number of loci for which data were available. Nevertheless, a tight northern cluster clearly emerged. When compared to other Mediterranean populations, Corsica showed a certain degree of differentiation, although not so marked as that of Sardinia. Corsica presented genetic affinities with Campania, Sicily, Liguria, Provence and Latium, while distances with Tuscany and Sardinia were larger. These results can be interpreted as a reflection of the prehistoric isolation of Corsica and the relative contribution to the island gene pool of prehistoric and historic invaders and immigrants from several populations.

Blood Group Antigens

Carrier detection for prenatal diagnosis of hemophilia A in Italian families.

BACKGROUND: The results obtained from a comparative analysis between phenotypic bioassays as the ratio of factor VIII: C clotting activity to factor VIII: C-related antigen, and DNA haplotypes from RFLP's TaqI/St14 and BclI/F8A in 12 hemophilia A (HeA) families are described. METHODS: DNA from HeA patients and related at-risk women has been analyzed by Southern blotting with two probes: the intragenic F8A and the extragenic St14. Factor VIII: C coagulant activity was measured by a one-stage method, and the Factor VIII-related antigen (FVIII: RAg) was assayed with bidimensional electrophoresis. Linkage analysis was performed with the LINKAGE computer programs; in particular, the risks of carrying HeA were calculated using the MLINK program. RESULTS: The observed heterozygosity for the flanking marker DXS 52 (TaqI/St14 RFLP) in combination with intragenic BclI/F8A polymorphism was 0.94. A statistically significant difference in frequency was detected at the DXS 52 locus (allele 4) in comparison with other Caucasian populations. Linkage analysis made it possible to combine the plasma bioassay values with the DNA marker haplotypes to determine the probability of carriership; 22 females at risk were investigated: 4 of them were identified as carriers and 18 were excluded. The risk of carrying hemophilia A for some women at risk in six families is reported. CONCLUSIONS: This study compares a classic method and DNA analysis in genetic counselling for hemophilia A. In some cases the two methods may give different results when identifying carriers in at-risk families. From these data it is possible to conclude that DNA analysis combined with the phenotypic bioassays for carrier detection gives more information that the two analyses taken separately.

Alleles

[The reduction of the maternal and neonatal risk based on a new outlook for care effected with the active involvement of the nuclear family in the pregnancy and labor].

A socio-analytic investigation, showing mental images of health personnel and their influence on the course of pregnancy, child birth and child nursing has been performed at the Obstetrics and Neonatology Departments of Maria Vittoria Hospital, Torino, Italy. Through a statistical analysis on the mothers population during one year (1986 Nov-1987 Nov) a significant reduction of maternal delivery stress and neonatal risk has been found in relation to the "participation to the psycho-prophylactic courses" and to the "presence of fathers during delivery". Answers of mothers to a questionnaire are reported. This work points out the importance of a child birth's humanization.

Adolescent