Biomedical subjects

C Scapoli

Publications and source records attributed to C Scapoli.

At least 19 recordsLinked to original sources

PubMed2006

A genetic association study of dopamine metabolism-related genes and chronic headache with drug abuse.

To assess the role of dopamine metabolism-related genes in the genetic liability to chronic headache with drug abuse (DA). We performed a genetic association study using four functional polymorphisms of the dopamine receptor 4 (DRD4), dopamine transporter (DAT), mono-amino-oxidase A (MAOA) and cathecol-O-methyl-transferase (COMT) genes in 103 patients with chronic daily headache associated with DA (CDHDA). Control samples were 117 individuals without headache or DA (controls) and 101 patients with episodic migraine without aura and without DA (MO). No differences were found at the COMT and MAOA genes among the three groups investigated. Allele 4 of DRD4 was significantly overrepresented in patients with MO compared with both controls and CDHDA. Allele 10 of the DAT gene was significantly underrepresented in patients with CDHDA when compared with the MO group. Genetic variability at the DRD4 gene is involved in the predisposition to episodic MO but not to DA, while liability to CDHDA may involve genetic variability at the DAT gene in comparison with episodic MO.

Adult↗

PubMed2005

Surnames and dialects in France: population structure and cultural evolution.

To study the isonymy structure of France as related to local language variations, the surname distributions of 6.03 million telephone users registered for the year 2002 were analysed in the 21 conterminous regions, their 94 departments and in 809 towns of the Country. For regions and departments the differences among local dialects were quantified according to the dialecto-metrization of the Atlas Linguistique Français. We found that Lasker's distance between regions was correlated with geographic distance with r=0.692+/-0.040, while Euclidean (r=0.546+/-0.058) and Nei's (r=0.610+/-0.048) distances were less correlated. Slightly lower correlations were observed for departments. Also, dialectometric distance was correlated with geography (r=0.582+/-0.069 for regions and r=0.617+/-0.015 for departments). The correlations between Lasker and dialectometric matrix distances for regions and departments are r=0.625+/-0.046 and 0.544+/-0.014, respectively, indicating that the common cause generating surname and language diversity accounts for about 35% of the differentiation. Both Lasker and dialectometric distances identify very similar boundaries between Poitou, Centre, Bourgogne and Franche Comptée at the North, and Aquitaine, Limousin, Auvergne, Rhône-Alpes in the South. Average Fisher's alpha for France was 7877 the highest value observed for the European countries studied to date. The size of alpha in most French towns indicates considerable recent immigration.

Cultural Evolution↗

PubMed2005

Surnames in Argentina: a population study through isonymy.

In order to study the isonymic structure of Argentina, the surname distributions of 22.6 million electors registered for the year 2001 were analyzed in the 24 districts (distritos) and 541 municipalities (municipios) of the country. The number of different surnames found was 414,441. Matrices of isonymic distances between districts were constructed and tested for correlation with the geographic distance between the capital towns of the districts. We found that, for the whole of Argentina, Euclidean distance was correlated with the log of geographic distance (r=0.480+/- 0.067). A dendrogram of the 24 regions was built from the matrix of Euclidean distances, using the UPGMA method. The clusters identified by the dendrogram are coincident with conterminous geographical regions of the country. Random inbreeding calculated from isonymy, F(ST), was highest in La Rioja, Corrientes, and Santiago del Estero. It was lowest in the area of Buenos Aires and in the north-central region of Santa Fé. Average Fisher's alpha for municipalities was 358; for districts, it was 422; and for Argentina as a unit, it was 602. The geographical distribution of alpha in 541 municipalities, high in the east and lower in the west of the country, is compatible with the settlement in the 20th century of subsequent waves of immigrants moving from the North Atlantic coast toward the foot of the Andes and toward the south. The present structure of Argentina indicates that migration dominates over drift.

Argentina↗

PubMed2005

Linkage disequilibrium analysis of case-control data: an application to generalized aggressive periodontitis.

Several studies have shown a role for the involvement of interleukin (IL)-1 gene cluster polymorphisms in the risk of periodontal diseases. In the present study, we tested polymorphisms, derived from genes of the IL-1 cluster, for association with generalized aggressive periodontitis (GAP) through both allelic association and by constructing a linkage disequilibrium (LD) map of the 2q13-14 disease candidate region. The IL-1RN (VNTR) genotype distribution observed was significantly different in GAP and control subjects (P=0.019). We also observed some evidence for an association between GAP and the IL-1B(+3953) polymorphism (P=0.039). The pattern of association in the region, represented as an LD map, identifies a recombination hot area between the IL-1B(+3953) and IL-1B(-511) polymorphisms. Multilocus modelling of association with disease gives a location for the peak association at the IL-1B(+3953) marker, although support for the peak is not significant. Haplotype analysis identifies a IL-1B(+3953)-IL-1B(-511) haplotype as having the lowest P-value in the region. Recognition of the presence of a recombination hot area between the IL-1B(+3953) and IL-1B(-511) polymorphisms will have an important bearing on future efforts to develop higher resolution SNP analysis in this region for both this and other diseases for which this cluster is implicated.

Case-Control Studies↗

PubMed2004

Isolation by language and distance in Belgium.

The isonymy structure of trilingual Belgium was studied using the surname distributions for 1,118,004 private telephone users. The users were distributed in 77 Flemish, 76 French, and 3 German speaking towns, selected on a geographic basis to form an approximately regular grid over Belgium. Lasker's distance was found to be considerably higher between languages than within languages. For the whole of Belgium, irrespective of language, it was highly correlated with linear geographic distance, with r = 0.721+/-0.014, which is the highest correlation observed in European countries to date. Within Belgium and within languages, the correlation was highest among the Flemish (r = 0.878 +/- 0.007), and lowest among the French (r = 0.631+/-0.020). Isolation by distance in Belgium is the highest we have found in Europe, and as high as in Switzerland where the different languages are separated by geographical barriers. This is not the case in Belgium, so that the considerable isolating power of languages emerges clearly from the present analysis. From the comparison of Lasker's distance between (9.48) and within (8.16) languages, and from its regression over geographic distance (b = 0.01206), it was possible to establish a quantitative relationship between the isolating power of languages and that of geographic distance as (9.48-8.16)/0.01206 = 109 kilometres. This transformation of language distance into an equivalent geographic distance, given here for Belgium, can be applied to any similar geo-linguistic situation.

Belgium↗

PubMed2003

The names of Spain: a study of the isonymy structure of Spain.

In order to estimate the isonymy structure of Spain, we studied surname distribution in 283 Spanish towns based on 3.625 million telephone users selected from 6.328 million users, downloaded from a commercial CD-ROM which contains all 13 million users in the country. Since in Spain the surname is made by the paternal and the maternal surname, it was possible to classify surnames according to parental origin. Two matrices of isonymy distances, one for paternal and one for maternal surnames, were constructed and tested for correlation with geographic distance. For the whole of Spain, Euclidean distance was significantly but weakly correlated with geographic distance both for paternal and maternal surnames, with r = 0.205 +/- 0.013 and r = 0.263 +/- 0.012, respectively. Two dendrograms of the 283 sampled towns were built from the two matrices of Euclidean distance. They are largely colinear. Four main clusters identified by the dendrograms are correlated with geography. Given the surname structure of Spain, we were able to calculate from isonymy and for each town 1). total or expressed inbreeding, 2). random or expected inbreeding, and 3). local inbreeding. Total inbreeding, F(IT), was highest in the North Atlantic regions and lowest along the Mediterranean Coast. The lowest levels were found in Andalusia, Catalunyia, Valencia, and Navarra. Random inbreeding, F(ST), had a similar geographical pattern. Local inbreeding, F(IS), was relatively uniform in the whole of Spain. In towns, random inbreeding dominates over local inbreeding. From the analysis, it emerges that the northwestern area of Spain is the most inbred.

Female↗

PubMed2003

A genetic association study of migraine with dopamine receptor 4, dopamine transporter and dopamine-beta-hydroxylase genes.

We assessed the role of some dopamine metabolism genes in the genetic susceptibility to migraine. We performed an association study using three functional polymorphisms: a 48-base-pair (bp) tandem repeat in the D4 dopamine receptor gene ( DRD4), a 40-bp tandem repeat in the dopamine transporter gene ( DAT) and a dinucleotide repeat in the dopamine beta-hydroxylase ( DBH) gene. Allelic and genotypic frequencies for each polymorphism were assayed in two migraine populations (93 individuals with migraine with aura (MA) and 101 with migraine without aura (MO)) and were compared with those in a control group (117 individuals). No significant differences were found between control and migraine groups for DAT and DBH polymorphisms. Instead, the distribution of alleles for the DRD4 gene in the MO group was significantly different from those in both MA and control groups, with the shortest and longest alleles being less frequent in MO. Our data indicate that MO, but not MA, shows significant genetic association with DRD4.

Adolescent↗

PubMed2003

Response to a plaque control regimen on different levels of gingival inflammation.

BACKGROUND: The purpose of the present study was to evaluate the effectiveness of an oral hygiene regimen in subjects presenting with substantially different severity of plaque-associated gingivitis. METHODS: The study population was selected from among a large pool of subjects undergoing an experimental gingivitis trial. At completion of the 21-day plaque accumulation period, 2 sub-groups of subjects were identified on the basis of uppermost and lowest quartile for Gingival Index (GI), respectively classified as highly-inflamed (Hinf; n=17; GI: 1.07+/-0.10) and slightly-inflamed (Sinf; n=22; GI: 0.28+/-0.09) groups. An oral hygiene regimen, based on use of amine fluoride/stannous fluoride-containing toothpaste and mouthrinse, was then prescribed for 21 days. RESULTS: Plaque Index (PI), GI, gingival crevicular fluid (GCF) and Angulated Bleeding Index (AngBI) significantly decreased after treatment in both HInf and SInf groups (p<0.001). However, PI (0.77+/-0.41 vs 0.43+/-0.33, p<0.01), GI (0.23+/-0.30 vs 0.08+/-0.11, p<0.05), GCF (15.23 +/-7.11 vs 7.66+/-2.93, p<0.0000) remained significantly greater in the Hinf group compared to the Sinf group. CONCLUSIONS: These results suggest that 1) an oral hygiene regimen based on amine/stannous fluoride-containing toothpaste and mouthrinse is effective in reducing plaque-associated gingivitis, regardless of pre-existing severity of gingival inflammation; 2) the level of improvement in gingival status, however, is dependent on the pre-existing severity of the inflammatory condition.

Adult↗

PubMed2002

Cytokine imbalance in pregnancies with fetal chromosomal abnormalities.

BACKGROUND: The aim of the present study is to investigate the levels of some of the cytokines which may be involved in the mechanisms leading to the impairment of placental perfusion and to the onset of uterine contractions in pregnancies with fetal genetic abnormalities compared with controls. METHODS: The amniotic fluid and maternal plasma levels of interleukin-6, interleukin-8 and tumour necrosis factor-beta in patients with fetal chromosomal abnormalities were measured, as well as in euploid pregnancies in the seventh week of gestation. RESULTS: An increase of interleukin-6 (P = 0.034) and a decrease of interleukin-8 (P < or =0.0001) in amniotic fluid, and a decrease of interleukin-6 in the maternal plasma (P = 0.026) was shown in pregnancies with fetal chromosomal abnormalities. A positive correlation was observed between amniotic interleukin-8 and serum interleukin-6 in the presence of fetal aneuploidy (P < 0.006). CONCLUSION: Further investigations of cytokine imbalance in pregnancies with poor outcome as a consequence of genetic disorders rather than infection is warranted.

Adult↗

PubMed2002

Isonymy and isolation by distance in the Netherlands.

The isonymy structure of the Netherlands was studied using the surname distribution of 2.4 million private telephone users selected from a 1996 commercial CD-ROM containing the names of 6.3 million users in the country. The users were distributed in 226 towns selected on a geographic basis to form an approximately regular grid throughout the Netherlands. Names of telephone users in each town were downloaded from the CD-ROM, with private users being selected for inclusion in the analysis. The shortest linear distance between several nearest neighboring towns was less than 2 km (e.g., Kampen and Ijsselmuiden, Krommen and Zaandijk, Hendrikdo and Papendrecht) and the longest distance was 326 km (Delfzijl and Oostburg ZL). The number of different surnames revealed by the analysis was 126,485. Lasker's distance, the negative value of the logarithm of isonymy between localities, was found to be significantly correlated with linear geographic distance, with r = 0.47 +/- 0.006. A dendrogram built using the matrix of isonymy distances, using the nearest neighbor-joining method, separates the Dutch towns into several clusters, most of them correlated with traditional Dutch regions. Comparisons with the results of previous analyses of the structure of other European countries are given. From the present analysis, isolation by distance emerges clearly, and it is relevant, although much weaker than in Switzerland, Austria, Italy, and Germany. The random component of inbreeding estimated from isonymy indicates a considerable degree of homogeneity in the Netherlands.

CD-ROM↗

PubMed2001

Isonymy structure of USA population.

The isonymy structure of the 48 states of the continental United States of America was studied using the surname distributions of 18 million telephone users, distributed in 247 towns. The shortest linear distance between nearest neighbor towns included in the sample was 12.0 km. The largest distance was 4,577 km. The number of different surnames found in the whole analysis was 899,585. Lasker's distance was found to be significantly but weakly correlated with the geographic distance, with r = 0.21 +/- 0.01. A dendrogram of the 48 states was built from the matrix of isonymy distances: it divides the US into several clusters, in general correlated with geography. A notable exception is California and New Jersey, which cluster together. Wisconsin is separated from all other states. An important cluster is formed by Texas, Colorado, New Mexico, Nevada, and Arizona, together with Illinois and Florida. It was observed that Hispanic surnames are among the most frequent in Illinois, as they are in New Jersey and California. No main distinction among the states clearly attributable to surnames of French origin was detected; however, New Hampshire, Vermont, and Maine which have a considerable number of these surnames belong to the same northeastern cluster. From the present analysis, the great mobility of the US population emerges clearly, and it seems relevant that the practical absence of isolation by distance is seen also considering only small towns. It appears that groups of different origin are well-mixed over the whole area of the United States. The values of isonymy indicate that the south-central area of the USA has the highest level of inbreeding. In fact, the heterogeneity in surname composition is greater in the coastal areas, particularly on the East Coast, than anywhere else in the USA.

Emigration and Immigration↗

PubMed2001

Plasminogen activator system in serum and amniotic fluid of euploid and aneuploid pregnancies.

OBJECTIVE: To compare euploid and aneuploid pregnancies with respect to maternal serum and amniotic fluid (AF) levels of the components of the plasminogen system. METHODS: The study population consisted of 123 single pregnancies at the 17th gestational week, 16 with minor chromosomal abnormalities, 15 aneuploid, and 92 euploid. RESULTS: Both groups with chromosomal abnormalities had significantly higher serum levels of urokinase plasminogen activator and its complexed form with its type-1 inhibitor compared with euploid pregnancies. In AF, tissue plasminogen activator was significantly lower in the aneuploid than the euploid group, whereas type-1 inhibitor of plasminogen activator was significantly higher in the cases with minor chromosomal abnormalities compared with euploid. At cutoff levels set at 100% sensitivity, the complexed form of urokinase plasminogen activator with its type-1 inhibitor had the strongest specificity (66.3%); after logarithmic transformation, its serum level was 7.53 times higher in aneuploidies than euploidies. CONCLUSION: Aneuploid pregnancies appear to be accompanied by abnormalities of the plasminogen activation system, which could lead to impaired placental perfusion and thus to abortion, fetal death, and fetal growth restriction.

Adult↗

PubMed2001

CD34(+) cell subsets and long-term culture colony-forming cells evaluated on both autologous and normal bone marrow stroma predict long-term hematopoietic engraftment in patients undergoing autologous peripheral blood stem cell transplantation.

OBJECTIVE: The aim of this study was to evaluate which CD34(+) cell subset contained in leukapheresis products could be regarded as the most predictive of long-term hematopoietic recovery after autologous peripheral blood stem cell transplantation (auto-PBSCT). MATERIALS AND METHODS: Based on data from 34 patients with hematologic malignancies, doses of CD34(+) cells and CD34(+) cell subsets, defined by the expression of HLA-DR, CD38, CD117 (c-kit/R), CD123 (alpha subunit of IL-3/R), CD133 (AC133), and CD90 (Thy-1) antigens, were correlated with the number of short-term (i.e., colony-forming cells [CFC]) and long-term culture CFC (LTC-CFC) (generated at week 5 of culture) and with the kinetics of hematopoietic engraftment following auto-PBSCT. The capacity of autologous stroma (AS), normal human bone marrow stroma, and M2-10B4 murine cell line to sustain CD34(+) cell growth was comparatively evaluated in the LTC assay. RESULTS: Our data demonstrated that some of the most primitive progenitor subsets (CD34(+)CD117(-)HLA-DR(-), and CD34(+)CD38(+)HLA-DR(-)) showed the strongest correlation with LTC-CFC numbers generated within the AS, whereas no significant correlation was noted using normal bone marrow stroma. Multivariate analysis showed that the only CD34 cell subset independently associated with long-term (3 to 6 months) platelet engraftment after auto-bone marrow transplantation was the CD34(+)CD117(-)HLA-DR(-) phenotype; long-term erythrocyte engraftment was correlated with CD34(+)CD38(+)HLA-DR(-) cell content. The latter further influenced platelet engraftment in the first 3 months after auto-PBSCT. The most predictive parameters for neutrophil engraftment were CD34(+)CD38(+)HLA-DR(-) cell subtype and the total LTC-CFC quantity infused. CONCLUSIONS: These data further support the hypothesis that the type of stromal feeders influences the frequency of LTC-CFC, possibly because they differ in their ability to interact with distinct subsets of hematopoietic stem cells. Furthermore, as the use of AS in LTC assay can mimic in vitro the human bone marrow microenvironment, it can be speculated that this culture system could be a useful means to study the kinetics of recovery of bone marrow stroma following chemotherapy and PBSCT. From these results, it can be concluded that some CD34(+) cell subsets appear to be more reliable predictors of long-term hematopoietic recovery rates than total CD34(+) cell quantity.

Adult↗

PubMed2000

A two-locus model for non-syndromic congenital dysplasia of the hip (CDH).

Complex segregation analysis was conducted in a sample of 171 pedigrees collected through probands affected by non-syndromic dysplasia of the hip (CDH) treated in Ferrara's CDH Centre in the period 1991-6. The analysis favoured a two-locus model, in which the accepted segregation model at the major locus was compatible with recessive transmission, with a gene frequency of the deleterious allele of around 0.20. For the other locus, among the Mendelian hypotheses tested, the recessive model turned out to be the most parsimonious. When ultrasonographic level was examined as an indication of severity, a significant improvement in the fit of the model was observed, giving clear evidence that information on the severity of CDH is important for a better definition of the hereditary transmission model.

Child↗

PubMed2000

Allele and genotype frequencies for D1S80 and 3'APOB in Recanati, Central Italy.

The VNTR 3'APOB and D1S80 loci were studied in a sample of 179 individuals living in the Recanati Area (Central Italy). For 3'APOB, we found 34 genotypes and 11 alleles. The system was in Hardy-Weinberg equilibrium. The observed and expected heterozygosity were 0.788 and 0.798 respectively. The discrimination power was 0.96, the a-priori paternity exclusion power was 0.619 and the polymorphism information content was 0.773. For D1S80, we found 45 genotypes and 18 alleles. The system deviated significantly from Hardy-Weinberg equilibrium. The observed and expected heterozygosity were 0.696 and 0.790 respectively. The discrimination power was 0.96, the a-priori paternity exclusion power was 0.617 and PIC was 0.767. The Recanati sample was compared with the general Italian frequencies for the 3'APOB locus. A difference of borderline significance was detected (P = 0.04). For D1S80, the sample was compared with a sample from Southern Italy and no significant difference was detected.

Alleles↗

PubMed2000

[Prenatal steroids, cesarean section, and cerebral hemorrhage in newborns with birth weight under 1500 g].

OBJECTIVE: To identify perinatal risk and protective factors for peri-intraventricular hemorrhage (PIVH) in 214 very low birth weight (VLBW) infants. METHOD: Perinatal risk and protective factors for PIVH were examined by univariate analysis and by multivariate logistic regression analysis that adjusted simultaneously for the effects of year of birth and perinatal characteristics. Because mode of delivery and antenatal use of steroid represent the only factors, among those considered, that could in most cases be controlled by the clinician, we calculated for each of the four combinations the relative risk of PIVH. RESULTS: By univariate analysis, antenatal steroid administration, cesarean section delivery, increasing birth weight and increasing gestational age were protective perinatal factors. By using logistic regression, significant protective factors against PIVH included a complete course of antenatal steroid therapy and increasing gestational age. Intrauterine growth retardation was associated with an increased risk of PIVH. The relative risk of intraventricular hemorrhage for each of the four combination of mode of delivery and antenatal steroid exposure demonstrate that antenatal steroid exposure and cesarean section delivery are most protective with a relative risk of 14% compared with vaginal delivery and no antenatal steroid exposure. CONCLUSIONS: Association of antenatal steroid administration with cesarean section delivery has an important role in lowering the risk of PIVH in VLBW infants.

Adrenal Cortex Hormones↗

PubMed1999

Spontaneous sister chromatid exchange and chromosome aberration frequency in humans: the familial effect.

The possible effects of environmental and genetic factors on spontaneous frequencies of sister chromatid exchanges (SCEs) and cells with chromosome aberrations (CAs) in human lymphocytes were investigated by analysing 177 completed families (mother, father and at least one child). After removing the effects of methodological, biological and life-style factors by the use of multifactor analysis of variance (MANOVA), SCEs and CAs residuals were analysed by simple correlation analysis and principal component analysis. SCEs and CAs inter-familiar variability was higher than that found within families. A significant correlation was found between the average SCE frequencies shared by parents (the so-called 'midpoint parents', or 'midparent') and offspring (linear slope b=0.26+/-0.07, p<0.05), but also between mother and father (b=0.23+/-0.11, p<0.05) suggesting the presence of an effective environmental factor. The midparent-offspring correlation was found to be sustained by the mother-offspring relationship (b=0.28+/-0.08, p<0.05), being the father-offspring correlation not significant (b=0.16+/-0.11, p0.05). Concerning CAs, no statistically significant correlation between parents was found, but the strong relationship between mother and offspring was confirmed (b=0.468+/-0.11, p<0.001). The SCEs correlation between mother vs. offspring disappeared for older offspring (over 23 years old). The obtained findings strongly showed that the genetic make-up is barely detectable in the presence of domestic environment factors which are shown to play the major role in determining the interfamilial variability of SCE and CA in a general population. These results strengthen the suitability of the use of SCEs and CAs analysis in human cytogenetic surveillance for the detection of effective environmental factors.

Adult↗

PubMed1999

Combined segregation and linkage analysis of nonsyndromic orofacial cleft in two candidate regions.

We applied a complex segregation analysis to 46 pedigrees with a total of 121 nuclear families and 660 individuals, to verify hypotheses regarding the inheritance of OFC and linkage with markers on chromosomes 6 and 2. The POINTER program for segregation analysis strongly rejected the hypothesis of no familial transmission of OFC in these families. When the hypothesis of a two-locus model was tested with COMDS, the analysis showed the presence of at least two loci and the model assuming a dominant major gene and a recessive modifier locus was statistically accepted. Given the fitted two-locus model, we tested for a possible linkage between the major OFC locus and the two markers studied. For D6S259, the estimate of the recombination fraction was theta = 0.098, corresponding to a LOD score around 2.1. On the contrary, the data analysis concerning the D2S378 marker showed an estimate of the recombination fraction not significantly different from the independence hypothesis.

Chromosomes, Human, Pair 2↗