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Italian Population (italian + population)
Selected AbstractsHaplotypes of the Human RET Proto-oncogene Associated with Hirschsprung Disease in the Italian Population Derive from a Single Ancestral Combination of AllelesANNALS OF HUMAN GENETICS, Issue 1 2006F. Lantieri Summary The RET proto-oncogene is the major gene involved in the complex genetics of Hirschsprung disease (HSCR), or aganglionic megacolon, showing causative loss-of-function mutations in 15,30% of the sporadic cases. Several RET polymorphisms and haplotypes have been described in association with the disease, suggesting a role for this gene in HSCR predisposition, also in the absence of mutations in the coding region. Finally, the presence of a functional variant in intron 1 has repeatedly been proposed to explain such findings. Here we report a case-control study conducted on 97 Italian HSCR sporadic patients and 85 population matched controls, using 13 RET polymorphisms distributed throughout the gene, from the basal promoter to the 3,UTR. Linkage disequilibrium and haplotype analyses have shown increased recombination between the 5, and 3, portions of the gene and an over-representation, in the cases studied, of two haplotypes sharing a common allelic combination that extends from the promoter up to intron 5. We propose that these two disease-associated haplotypes derive from a single founding locus, extending up to intron 19 and successively rearranged in correspondence with a high recombination rate region located between the proximal and distal portions of the gene. Our results suggests the possibility that a common HSCR predisposing variant, in linkage disequilibrium with such haplotypes, is located further downstream than the previously suggested interval encompassing intron 1. [source] Ethnicity and Evolution of the Biodemographic Structure of Arbëreshe and Italian Populations of the Pollino Area, southern Italy (1820,1984)AMERICAN ANTHROPOLOGIST, Issue 4 2007Article first published online: 7 MAY 200 In the present study, we show how, through time, an ethnic mosaic and a changing social and economic context translated into intrapopulation differentiation and a change in genetic barriers between populations. Surname analysis was applied to a sample drawn from two centuries of marriage records in ten Arbëreshe and nine Italian villages of southern Italy to evaluate the evolution of internal differentiation and changes in genetic relationships between populations. Marital Isonymy and subdivision into subpopulations was higher in the Arbëreshe. Genetic barriers coinciding with ethnic boundaries characterized the 1800s. In the second half of the 1900s, ethnic differentiation disappeared. We hypothesize that socioeconomic changes, such as increased outmigration and regional mobility, were the forces that progressively eliminated the ethnic-related genetic differentiation in the region. This study has important implications for an understanding of the relationship between genetic evolution and the cultural milieu involving enforcement of ethnic differences. [source] PON1 L55M polymorphism is not a predictor of coronary atherosclerosis either alone or in combination with Q192R polymorphism in an Italian populationEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 1 2002M. Arca Abstract Background, The present study evaluated the role of the PON1 L55M polymorphism independently and in conjunction with the Q192R polymorphism on the risk of coronary atherosclerosis in an Italian population. Materials and methods, Three hundred and ninety-one subjects with significant coronary stenosis (> 50%) (coronary artery disease-positive; CAD+), 196 subjects with normal coronary arteries (< 10% stenosis) (CAD,) and 178 healthy controls were screened using a combination of polymerase chain reaction and restriction enzyme digestion. Results, In the pooled population, the frequencies of L and M alleles were 0·63 and 0·37, respectively; the most common haplotypes were QQ/LM (24·2%) and QR/LL (21·8%) and a strong linkage disequilibrium between L/55 and R/192 alleles was observed (D, = ,0·91; P < 0·0001). CAD+ subjects did not show any significant differences in the distribution of PON1,55 genotypes as compared to CAD, subjects and population controls (,2 = 1·5, P = 0·8). After controlling for other risk factors, the low-concentration M allele was not associated with a significant change of CAD risk (OR 1·02; 95% CI 0·80,1·29; P = 0·87). Moreover, the L55M polymorphism did not show any interaction with other risk factors such as smoking, diabetes, hypertension, low levels of high-density lipoprotein (HDL) or high ratios of low-density to high-density lipoproteins. The combination of L55M with the Q192R polymorphism did not show any effect on CAD risk. However, a marginal decrease in myocardial infarction risk was detected when QQ/MM carriers (OR 0·51; 95% CI 0·26,0·99; P = 0·048), but not LL/RR carriers, were compared with subjects not homozygous for an L or R allele. Conclusions, These findings did not indicate a major effect of the PON1 L55M polymorphism, either alone or in combination with the Q192R polymorphism, on CAD risk. Additional studies are needed for a better evaluation of the role of the 55/192 PON1 genotypes in combination on myocardial infarction risk. [source] An exploration of anger phenomenology in multiple sclerosisEUROPEAN JOURNAL OF NEUROLOGY, Issue 12 2009U. Nocentini Background and purpose:, Multiple sclerosis (MS) patients are often emotionally disturbed. We investigated anger in these patients in relation to demographic, clinical, and mood characteristics. Patients and methods:, About 195 cognitively unimpaired MS patients (150 relapsing,remitting and 45 progressive) were evaluated with the State Trait Anger Expression Inventory, the Chicago Multiscale Depression Inventory, and the State Trait Anxiety Inventory. The patients' anger score distribution was compared with that of the normal Italian population. Correlation coefficients among scale scores were calculated and mean anger scores were compared across different groups of patients by analysis of variance. Results:, Of the five different aspects of anger, levels of withheld and controlled Anger were respectively higher and lower than what is expected in the normal population. Although anger was correlated with anxiety and depression, it was largely independent from these mood conditions. Mean anger severity scores were not strongly influenced by individual demographic characteristics and were not higher in more severe patients. Conclusions:, The presence of an altered pattern of anger, unrelated to the clinical severity of MS, suggests that anger is not an emotional reaction to disease stress. An alteration of anger mechanisms might be a direct consequence of the demyelination of the connections among the amygdale, the basal ganglia and the medial prefrontal cortex. [source] Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathyEUROPEAN JOURNAL OF NEUROLOGY, Issue 10 2004K. Kawabe Mutations in the dysferlin gene (DYSF) on chromosome 2p13 cause distinct phenotypes of muscular dystrophy: limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), and distal anterior compartment myopathy, which are known by the term ,dysferlinopathy'. We performed mutation analyses of DYSF in 14 Italian patients from 10 unrelated families with a deficiency of dysferlin protein below 20% of the value in normal controls by immunoblotting analysis. We identified 11 different mutations, including eight missense and three deletion mutations. Nine of them were novel mutations. We also identified a unique 6-bp insertion polymorphism within the coding region of DYSF in 15% of Italian population, which was not observed in East Asian populations. The correlation between clinical phenotype and the gene mutations was unclear, which suggested the role of additional genetic and epigenetic factors in modifying clinical symptoms. [source] POSTMATING SEXUAL SELECTION: ALLOPATRIC EVOLUTION OF SPERM COMPETITION MECHANISMS AND GENITAL MORPHOLOGY IN CALOPTERYGID DAMSELFLIES (INSECTA: ODONATA)EVOLUTION, Issue 2 2004A. Cordero Rivera Abstract Postmating sexual selection theory predicts that in allopatry reproductive traits diverge rapidly and that the resulting differentiation in these traits may lead to restrictions to gene flow between populations and, eventually, reproductive isolation. In this paper we explore the potential for this premise in a group of damselflies of the family Calopterygidae, in which postmating sexual mechanisms are especially well understood. Particularly, we tested if in allopatric populations the sperm competition mechanisms and genitalic traits involved in these mechanisms have indeed diverged as sexual selection theory predicts. We did so in two different steps. First, we compared the sperm competition mechanisms of two allopatric populations of Calopteryx haemorrhoidalis (one Italian population studied here and one Spanish population previously studied). Our results indicate that in both populations males are able to displace spermathecal sperm, but the mechanism used for sperm removal between both populations is strikingly different. In the Spanish population males seem to empty the spermathecae by stimulating females, whereas in the Italian population males physically remove sperm from the spermathecae. Both populations also exhibit differences in genital morphometry that explain the use of different mechanisms: the male lateral processes are narrower than the spermathecal ducts in the Italian population, which is the reverse in the Spanish population. The estimated degree of phenotypic differentiation between these populations based on the genitalic traits involved in sperm removal was much greater than the differentiation based on a set of other seven morphological variables, suggesting that strong directional postmating sexual selection is indeed the main evolutionary force behind the reproductive differentiation between the studied populations. In a second step, we examined if a similar pattern in genital morphometry emerge in allopatric populations of this and other three species of the same family (Calopteryx splendens, C. virgo and Hetaerina cruentata). Our results suggest that there is geographic variation in the sperm competition mechanisms in all four studied species. Furthermore, genitalic morphology was significantly divergent between populations within species even when different populations were using the same copulatory mechanism. These results can be explained by probable local coadaptation processes that have given rise to an ability or inability to reach and displace spermathecal sperm in different populations. This set of results provides the first direct evidence of intraspecific evolution of genitalic traits shaped by postmating sexual selection. [source] The North American P group of Heterobasidion annosum s.l. is widely distributed in Pinus pinea forests of the western coast of central ItalyFOREST PATHOLOGY, Issue 5 2007L. D'Amico Summary The distribution of the North American P group of Heterobasidion annosum s.l., recently reported from a Pinus pinea forest in the surroundings of Rome, was studied using mating tests and DNA fingerprinting (mitochondrial DNA, random amplified microsatellite technique and two group-specific markers). This fungus is present in several forests and small plantations along the Tyrrhenian coast of the Italian peninsula, within an area approximately 100 km long, extending from Fregene in the north to the National Park of Circeo in the south, and 27 km wide including the city of Rome. In pine forests of Castelporziano, Castel Fusano and Anzio, where US troops resided during the Second World War, the North American P group is more frequent than the European P group. The low number of mating alleles in the Italian population of the North American P group supports the hypothesis of its origin from a small number of introductions. The near 100% sexual compatibility between the North American and European P groups, together with inconsistencies in results obtained with different identification methods of these groups, suggests that hybridization between the North American and European P populations occurs occasionally. [source] Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles,HUMAN MUTATION, Issue 11 2008Serena Grossi Abstract Metachromatic leukodystrophy (MLD), the demyelinating disorder resulting from impaired sulfatide catabolism, is caused by allelic mutations of the Arylsulfatase A (ARSA) locus except for extremely rare cases of Saposin-B (Sap-B) deficiency. We characterized twenty-one unrelated Italian patients among which seventeen were due to ARSA activity deficiency and 4 others resulted from Saposin-B defect. Overall, we found 20 different mutant ARSA alleles and 2 different Sap-B alleles. The eleven new ARSA alleles (c.53C>A; c.88G>C; c.372G>A; c.409_411delCCC; c.634G>C; [c.650G>A;c.1108C>T]; c.845A>G; c.906G>C; c.919G>T; c.1102-3C>G; c.1126T>A) were functionally characterized and the novel amino acid changes were also modelled into the three-dimensional structure. The present study is aimed at providing a broader picture of the molecular basis of MLD in the Italian population. It also emphasizes the importance of a comprehensive evaluation in MLD diagnosis including biochemical, enzymatic and molecular investigations. © 2008 Wiley-Liss, Inc. [source] Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young,,HUMAN MUTATION, Issue 4 2003Vilma Mantovani Abstract Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of disorders characterized by early onset non-insulin-dependent diabetes mellitus, autosomal dominant inheritance, and primary defect in the function of the beta cells of the pancreas. Mutations in the glucokinase (GCK) gene account for 8%,56% of MODY, with the highest prevalences being found in the southern Europe. While screening for GCK mutations in 28 MODY families of Italian origin, we identified 17 different mutations (corresponding to 61% prevalence), including eight previously undescribed ones. The novel sequence variants included five missense mutations (p.Lys161Asn c.483G>C in exon 4, p.Phe171Leu c.511T>C in exon 5 and p.Thr228Ala c.682A>G, p.Thr228Arg c.683C>G, p.Gly258Cys c.772G>T in exon 7), one nonsense mutation (p.Ser383Ter c.1148C>A in exon 9), the splice site variant c.1253+1G>T in intron 9, and the deletion of 12 nucleotides in exon 10 (p.Ser433underscore;Ile436del c.1298_1309del12). Our study indicates that mutations in the GCK/MODY2 gene are a very common cause of MODY in the Italian population and broadens our knowledge of the naturally occurring GCK mutation repertoire. © 2003 Wiley-Liss, Inc. [source] Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients,,HUMAN MUTATION, Issue 3 2002Mirella Filocamo Abstract Gaucher disease (GD), the most prevalent lysosomal storage disease characterized by a remarkable degree of clinical variability, results from deleterious mutations in the glucocerebrosidase gene (GBA). In this paper we report the molecular characterization of 144 unrelated Italian GD patients with the three types of the disease. The allelic frequencies of Italians are reported and the mutation profile is analyzed. Besides the common N370S, L444P, RecNciI, G202R, IVS2+1G>A, D409H, F213I mutations, the different molecular strategies, used for the mutation detection, identified the rare N107L, R131C, R170C, R170P, N188S, S196P, R285C, R285H, W312C, D399N, A446P, IVS10-1G>A, Rec,55, total gene deletion, as well as 12 mutant alleles that were exclusively present in the Italian population until now: the previously reported R353G, N370S+S488P mosaicism, IVS8(-11delC)-14T>A), Rec I, Y418C, and the seven novel alleles D127X, P159T, V214X, T231R, L354X, H451R, and G202R+M361I. The wide phenotypic differences observed within the genotypic groups as well as between siblings implicate a significant contribution of other modifying genetic and/or non-genetic factors and claim a comprehensive valuation of the patient including clinical., biochemical and molecular investigations for prognosis, appropriate interventive therapy and reliable genetic counseling. © 2002 Wiley-Liss, Inc. [source] Methylenetetrahydrofolate reductase 677C/T gene polymorphism, gastric cancer susceptibility and genomic DNA hypomethylation in an at-risk Italian populationINTERNATIONAL JOURNAL OF CANCER, Issue 3 2006Francesco Graziano Abstract We performed a case-control study to examine the relationship between MTHFR C677T gene polymorphism (MTHFR677C/T) and gastric cancer susceptibility in at-risk populations in central Italy. To explore genomic DNA hypomethylation as a potential etiologic mechanism, this phenomenon was evaluated in carriers of the MTHFR677T/T genotype and carriers of the wild-type MTHFR677C/C genotype. Lymphocyte genomic DNA from 162 gastric cancer patients and 164 controls was used for MTHFR677C/T genotyping. Unconditional regression analysis with ORs and 95% CIs was used to investigate the association of the polymorphism with disease. Genomic DNA methylation status by an established enzymatic assay that measures the DNA accepting capacity of methyl groups (inversely related to endogenous methylation) was assessed in a random sample of 40 carriers of the wild-type MTHFR677C/C genotype and 40 carriers of the MTHFR677T/T genotype. The global allelic distribution was in Hardy-Weinberg equilibrium. The MTHFR677T allele was significantly associated with gastric cancer risk with an OR of 2.49 (95% CI 1.48,4.20) in heterozygous MTHFR677C/T carriers and an OR of 2.85 (95% CI 1.52,5.35) in homozygous MTHFR677T/T carriers. This risk association was retained in subgroup analyses by tumor histotype and location. Genomic DNA hypomethylation status in MTHFR677T/T carriers was significantly higher than in subjects with wild-type MTHF677C/C genotype (p = 0.012). In the studied population, MTHFR677T played the role of a moderate-penetrance gastric cancer susceptibility allele. Possession of the MTHFR677T/T genotype was significantly associated with genomic DNA hypomethylation. These findings deserve further investigation in the context of novel strategies for gastric cancer prevention. © 2005 Wiley-Liss, Inc. [source] Genotyping for cytokine polymorphisms: allele frequencies in the Italian populationINTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 1 2003M. Uboldi de Capei Summary It has been demonstrated that many cytokine genes [e.g. tumour necrosis factor , (TNF-,) and interleukin 10 (IL-10)] show polymorphisms which may affect gene transcription, causing individual variations in cytokine production. The majority of polymorphisms described are single nucleotide polymorphisms (SNPs). In 140 healthy Italian subjects, the allelic and genotype frequencies were determined for the cytokine genes IL-1, (T/C ,889), IL-1, (C/T ,511, T/C +3962), IL-12 (C/A ,1188), interferon (IFN)-, (A/T UTR 5644), transforming growth factor (TGF)-, (C/T codon 10, G/C codon 25), TNF-, (G/A ,308, G/A ,238), IL-2 (T/G ,330, G/T +166), IL-4 (T/G ,1098, T/C ,590, T/C ,33), IL-6 (G/C ,174, G/A nt565), IL-10 (G/A ,1082, C/T ,819, C/A ,592), IL-1R (C/T pst11970), IL-1RA (T/C mspa111100) and IL-4RA (G/A +1902). All typings were performed with PCR-SSP assays. Allele and genotype frequencies and linkage disequilibria were calculated and compared with those of other populations. [source] MICA and MICB microsatellite alleles in HLA extended haplotypesINTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 5 2001E. Bolognesi Summary The present study is a contribution to the definition of the linkage disequilibrium relationship of MICA and MICB with adjacent loci and to the characterization of extended HLA haplotypes. These issues are of importance for the identification of disease associations and for a better definition of donor,recipient compatibility in bone-marrow grafts through the typing of haplospecific markers. The distribution of the five alleles of MICA and the 13 alleles of MICB microsatellites, located, respectively, in MICA transmembrane exon 5 and in MICB intron 1, was examined in 133 healthy Italian individuals previously typed for HLA class I, class II and complement loci and for the TNFa microsatellite. The MICB microsatellite was also analysed in 49 HTCLs for which MICA typing was already available. Very strong linkage disequilibria with HLA-B and TNFa were detected in the Italian population for both MICA and MICB microsatellite alleles, in spite of the high mutability rate of the larger MICB alleles. Some strong associations were also detected between MICB and DRB1. The strongest associations (P < 0.001, D, > 0.7) were those of MICA-A4 with HLA-B18, B27 and TNFa1, MICA-A5 with HLA-B35, B61 and B62, MICA-A5.1 with HLA-B7, B8, B13, B63 and MICB-CA24, MICA-A6 with HLA-B51, MICA-A9 with HLA-B39, B57 and TNFa2, MICB-CA14 with HLA-B14, B27 and TNFa1, MICB-CA15 with HLA-B52, TNFa4 and TNFa13, MICB-CA17 with HLA-B7 and TNFa11, MICB-CA18 with HLA-B13 and TNFa7, MICB-CA22 with HLA-B57, and MICB-CA24 with HLA-B8 and TNFa2. From pairwise associations in the random panel and results for the homozygous cell lines it was possible to deduce the MICA and MICB microsatellite alleles present in many of the well-known Caucasoid extended haplotypes. [source] Periodontal health improves systemic inflammatory and haemostatic status in subjects with coronary heart diseaseJOURNAL OF CLINICAL PERIODONTOLOGY, Issue 2 2005L. Montebugnoli Abstract Objectives: A relationship between poor oral health and coronary heart disease (CHD) and systemic inflammatory and haemostatic factors has been recently documented in an Italian population. The present study was performed to assess whether intensive dental care may produce a periodontal improvement along with a change in systemic inflammatory and haemostatic factors. Material and Methods: The study population consisted of 18 males aged 40,65 years with proven CHD and elevated values of systemic inflammatory and haemostatic factors. A detailed description of their oral status was given by using two different dental indices (clinical periodontal sum score and clinical and radiographic sum score). Blood samples were taken for measurement of the following systemic markers of inflammation [(C-reactive protein (CRP), leucocytes, fibrinogen)] and haemostatic factors [(von Willebrand factor, fibrin D-dimer and oxidized-low density lipoprotein (Ox-LDL)]. All parameters were determined in each subject at baseline, after 4 months as a control and 3 months after an intensive protocol of scaling and root planing. anova for repeated measures was used for the statistical analysis. Results: No statistical difference was found between values at baseline and at the 4-month-control. All oral indexes showed a significant decrease (p<.01) 3 months after periodontal treatment. All systemic inflammatory indexes decreased but only the decrease in CRP reached statistical significance (p<.05). A significant decrease (p<.01) was also found as regards Ox-LDL among haemostatic factors. Conclusions: Preliminary results from the present study suggest an association between poor oral status and CHD, and provide evidence that the improvement of periodontal status may influence the systemic inflammatory and haemostatic situation. [source] Self-preventive oral behavior in an Italian university student populationJOURNAL OF CLINICAL PERIODONTOLOGY, Issue 3 2001Lia Rimondini Abstract Background, aim: The aim of this study was to assess the oral hygiene attitude and the professional preventive examination compliance in Italian university students. Method: A sample of 202 students attending the University of Bologna was randomly selected and interviewed about their preventive oral health attitude and compliance. All students reported using toothpaste and most of them (92.1%) brushed their teeth at least 2× a day using artificial, medium stiffness bristles. The toothbrush was generally (81.6%) replaced within 3 months. Few subjects (14.9%) said they used dental floss daily or utilized other devices. A majority of subjects (59.9%) had a dental examination within the year previous to the interview. Cluster analysis was performed. Results: 4 groups were identified with homogeneous oral hygiene behavior and compliance toward professional preventive examination. Only one cluster, representing 33.6% of the sample, showed consistent frequency and modalities of oral hygiene habits. The other clusters seemed to be defective with interproximal cleaning procedures and compliance toward professional preventive care. Since the sample was characterized by a young, urbanized, homogeneous group with a high educational level and frequently from an upper middle class social status, the analysis probably gives a supra-estimation of the positive behavior. Conclusion: It is rational to suppose that strategies to promote dental service utilization, patients' compliance and a professional style oriented toward prevention may be useful to improve the oral health condition in the young adult Italian population. Zusammenfassung Das Ziel dieser Studie war es bei Studenten einer italienischen Universität die Einstellung zur Mundhygiene und die Compliance mit einer professionellen Vorsorgeuntersuchung zu bestimmen. Eine Gruppe von 202 Studenten, die die Universität von Bologna besuchten wurden randomisiert ausgewählt und hinsichtlich ihrer Einstellung zur Mundhygiene und Compliance befragt. Alle Studenten berichteten, dass sie Zahnpasta gebrauchten und die meisten (92.1%) putzten ihre Zähne wenigstens 2× täglich und verwendeten eine Zahnbürste mit mittelharten Kunststoffborsten. Im Allgemeinen wurde die Zahnbürste innerhalb von 3 Monaten (81.6%) ersetzt. Wenige Personen berichteten, dass sie täglich Zahnseide benutzen oder andere Hilfsmittel verwenden. Die Mehrheit (59.9%) hatte innerhalb des zurückliegenden Jahres eine zahnärztliche Untersuchung. Es wurde eine Clusteranalyse durchgeführt. 4 Gruppen mit homogenem Mundhygieneverhalten und Compliance bezüglich professioneller präventiver Untersuchung wurden identifiziert. Nur ein Cluster, welches 33.6% der Gruppe repräsentiert zeigte eine Konsistenz in der Häufigkeit und Art der Mundhygienegewohnheiten. Die anderes Cluster schienen Defizite bei der Approximalraumreinigung und der Compliance mit professionellen Präventionsmaßnahmen zu haben. Da die Population charakterisiert war durch eine junge, städtische homogene Gruppe mit einem hohen Bildungsniveau und häufig den Sozialstatus der gehobenen Mittelklasse aufwies, gibt die Analyse wahrscheinlich eine Überbewer+tung des positiven Verhaltens wieder. Es ist vernünftig anzuhenmen, dass Strategien zur Förderung der zahnärztlichen Behandlung, der Patienten-Compliance und einer professionellen Ausrichtung hin zur Prävention nützlich sein können um in einer Population von jungen italienischen Erwachsenen den Zustand der Mundgesundheit zu verbessern. Résumé Le but de cette étude a été de vérifier l'attitude vis-à-vis de l'hygiène buccale et l'attitude vis-à-vis d'un examen préventif professionnel d'étudiants universitaires italiens. 202 étudiants de l'Université de Bologne ont été sélectionné au hasard et interviewéà propos de leur attitude préventive et leur complaisance vis-à-vis de leur santé buccale. Tous les étudiants disaient utiliser du dentifrice et la plupart d'entre eux (92%) brossaient leurs dents au moins 2× par jour avec une brosse à dents à poils artificiels de souplesse moyenne. La brosse à dents était géneralement (81.6%) remplacée tous les 3 mois. Peu d'entre eux (15%) disaient utiliser le fil dentaire tous les jours ou d'autres systèmes interdentaires. La plupart d'entre eux (60%) avaient passé une visite chez leur dentiste dans l'année précédent l'interview. L'analyse par groupe a été effectuée. 4 groupes ont été identifiés avec un comportement homogène vis-à-vis de l'hygiène buccale et une complaisance envers l'examen préventif professionnel. Seul un groupe représentant 34% de l'échantillon montrait une fréquence constante vis-à-vis de l'hygiène buccale. Les autres groupes semblaient porter moins d'attention au processus de nttoyage interdentaire et avoir une complaisance vis-à-vis des soins de prévention professionnels. Comme l'échantillon était caractérisé par un groupe homogène de jeunes des villes avec un niveau d'éducation élevé et provenant fréquemment d'une classe sociale assez élevée, l'analyse donne probablement une surestimation du comportement positif. Il semble logique de supposer que les stratégies visant à promouvoir l'utilisation des services dentaires, la complaisance des patients et un style professionnel orienté vers la prévention peuvent être utiles pour améliorer la condition de la santé buccale des jeunes adultes de la population italienne. [source] A predictive model for psychological reactions to crime in Italy: an analysis of fear of crime and concern about crime as a social problemJOURNAL OF COMMUNITY & APPLIED SOCIAL PSYCHOLOGY, Issue 1 2005Piero Amerio Abstract In this study a model for predicting fear of crime (FC) and concern about crime as a social problem (CC) in Italy has been built, using three sets of independent variables concerning: (a) the sociodemographic and criminal victimization domain; (b) the psychosocial domain; and (c) the mass media. A secondary analysis on data gathered by the Observatory of the North-West (N,=,3262, a mail panel that is representative of the Italian population over 18) has been performed. Results showed that FC and CC are related yet distinct constructs: FC is less widespread than CC, and has different predictors. FC predictors are sociodemographic, psychosocial and, above all, victimization variables; whereas mass media and psychosocial variables predict CC. Results were compared with the literature on the topic. Implications, limitations, and future directions are discussed. Copyright © 2004 John Wiley & Sons, Ltd. [source] Analysis of the Italian Dutch Elm Disease Fungal PopulationJOURNAL OF PHYTOPATHOLOGY, Issue 2 2005A. Santini Abstract Sixty-two Ophiostoma ulmi sensu lato strains have been collected from symptomatic trees in seven areas of Central Italy. Isolates were compared with 10 reference strains, belonging to the species O. ulmi and to the two subspecies of O. novo-ulmi, in order to establish the genetic variability within the Italian population of this fungal pathogen. The structure of the population has been analysed by means of morpho-physiological features and of the direct amplification of minisatellite-region DNA polymerase chain reaction (DAMD-PCR) by using the M13 core sequence. The DNA profiles have been compared with taxonomic parameters (growth rate, culture aspect and fertility barriers). Taxa could thus be well separated. None of the isolates collected was recognized as O. ulmi. Isolates assigned to the two subspecies of O. novo-ulmi (novo ulmi and americana) by means of the fertility test, showed short genetic distances with the respective reference strains and they constituted subgroups according to their geographical origin. The high level of variation detected indicates a postepidemic situation in Italy. Some inconsistency was found within the subspecies clusters. Several isolates, assigned to subspecies americana using fertility test, were in the novo-ulmi cluster and vice versa. A possible explanation is that these isolates are americana,novo-ulmi hybrids. [source] Allergic rhinitis in the Italian population evaluated through the national database of general practitionersALLERGY, Issue 5 2007L. G. Mantovani No abstract is available for this article. [source] Development and characterization of 11 microsatellite markers in the rock sparrow, Petronia petroniaMOLECULAR ECOLOGY RESOURCES, Issue 4 2006ALESSANDRO GRAPPUTO Abstract Eleven polymorphic microsatellite loci were isolated in the passeriform Petronia petronia using the enrichment protocol FIASCO (fast isolation by AFLP of sequences containing repeats). We detected three to 13 alleles per locus in 25 specimens collected from an Italian population. The level of expected heterozygosity ranged from 0.439 to 0.856. One locus is sex linked to the Z chromosome. The total exclusionary probabilities using these loci for the first and the second parent were 0.978 and 0.999, respectively. These are the first microsatellite loci characterized from the rock sparrow that can be used for estimating population structure and for large-scale parentage analysis. [source] Characterization of microsatellite markers in Fagus sylvatica L. and Fagus orientalis LipskyMOLECULAR ECOLOGY RESOURCES, Issue 1 2003R. Pastorelli Abstract Using an enrichment procedure, we cloned microsatellite repeats from European beech (Fagus sylvatica L.) and developed primers for the amplification of microsatellite markers. Six polymorphic loci were characterized which produced 3,21 alleles in 70 individuals from one Italian population, with an observed heterozygosity between 0.58 and 0.85. All six loci amplified fragments which were polymorphic in the closely related species, Fagus orientalis, also. Owing to their very high degree of variation, these markers should be very useful in gene flow studies of these species. [source] Growth and long-term lung function in cystic fibrosis: A longitudinal study of patients diagnosed by neonatal screeningPEDIATRIC PULMONOLOGY, Issue 3 2009Baroukh Maurice Assael MD Abstract Objective So far there is no long-term analysis relating the achievement of growth milestones (such as prepubertal and pubertal take-off and peak velocity) to the course of respiratory function from childhood to adulthood in cystic fibrosis. This study was designed to evaluate linear growth and severity of lung disease, find a correlation between growth and disease severity throughout childhood. Patients One hundred sixty-three patients from one center were selected according to: diagnosis by neonatal screening, complete follow-up available (four height measurements/year) until the age of 20, respiratory tests available from the age of 5,6 years until adulthood, lung transplantation, or death. Disease was classified as mild or severe according to FEV1 (group 1 and group 2). A third group of patients (group 3) consisted of those who died or underwent lung transplantation before the age of 18. Methods Individual growth profiles were fitted with a seven-constant nonlinear growth function. A multivariate linear model was fitted, with gender and severity of disease as covariates, and age, height, and height velocity at growth milestones as dependent variables. Data were compared with those of the normal Italian population. Results Lung disease severity correlates with delayed prepubertal and pubertal growth milestones. Peak height velocities were significantly reduced in relation to the severity of the disease. Conclusions Patients with severe forms of cystic fibrosis exhibit reduced growth velocity values at an early age, before a clear decline in pulmonary function. Pediatr Pulmonol. 2009; 44:209,215. © 2009 Wiley-Liss, Inc. [source] Fetal size charts for the Italian population.PRENATAL DIAGNOSIS, Issue 6 2005Normative curves of head, abdomen, long bones Abstract Objective To describe size charts developed from fetuses of Italian couples. Method Prospective cross-sectional investigation conducted in three referral centers for prenatal diagnosis. The population of the study included fetuses between the 16th and the 40th week of gestation recruited prospectively and examined only once for the purpose of this study. Exclusion criteria comprised all maternal and/or fetal conditions possibly affecting fetal biometry. The following biometric variables were measured: biparietal diameter, head circumference, abdominal circumference, femur, tibia, humerus, ulna and radio length. The statistical procedure recommended for analyzing this type of data set was employed to derive normal ranges and percentiles. Birthweight was also recorded. Our centiles were then compared with results from other studies. Results The best-fitted regression model to describe the relationships between head circumference and abdominal circumference and gestational age was a cubic one, whereas a simple quadratic model fitted BPD, and length of long bones. Models fitting the SD were straight lines or quadratic curves. Neither the use of fractional polynomials (the greatest power of the polynomials being 3) nor the logarithmic transformation improved the fitting of the curves. Conclusion We have established size charts for fetuses from Italian couples using the recommended statistical approach. Since the mean birthweight in this study is not statistically different from the official birthweight reported for the Italian population, these reference intervals, developed according to the currently approved statistical methodology, can be employed during second- and third-trimester obstetric ultrasound of fetuses from Italian couples. Copyright © 2005 John Wiley & Sons, Ltd. [source] Founder Effects for ATM Gene Mutations in Italian Ataxia Telangiectasia FamiliesANNALS OF HUMAN GENETICS, Issue 5 2009Luciana Chessa Summary We screened ATM gene mutations in 104 Italian Ataxia-Telangiectasia patients from 91 unrelated families (detection rate 90%) and found 21 recurrent mutations in 63 families. The majority (67%) of patients were compound heterozygotes, while 33% were homozygotes. To determine the existence of common haplotypes and potential founder effects, we analyzed five microsatellite markers within and flanking the ATM gene. Haplotype analysis was carried out in 48/63 families harbouring 16 of the 21 recurrent mutations. Forty different haplotypes were detected in the 48 A-T families studied. We found that the majority of patients with the same recurrent mutation originated from the same geographical area. All but one recurrent mutation analyzed displayed a common haplotype suggesting a single origin that then spread to different geographical areas. The high number of different haplotypes does not allow the screening of ATM mutations by haplotype analysis alone in the Italian population. The finding of recurrent public mutations without founder effect suggests the existence of ,mild' hot spots of mutation located along the sequence of the ATM gene. [source] Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthmaCLINICAL & EXPERIMENTAL ALLERGY, Issue 1 2007G. Malerba Summary Background Several genome scans have reported linkage of markers on chromosome 7p with asthma and related phenotypes in different populations. A fine mapping in Finnish and French-Canadian populations has associated the GPR154 gene (also known as G-protein-coupled receptor for asthma susceptibility, GPRA) with elevated IgE or asthma. Objective To confirm chromosome 7p linkage and candidate gene association in Italian families with atopic asthma. Methods In a two-phase approach, we first performed a linkage analysis of chromosome 7, and then a family-based association study on the GPR154 gene for allergic asthma phenotypes in the Italian population. Results The screening of 117 families with 19 microsatellite markers showed potential linkage for elevated IgE (P<0.002 at 22 cM from p-ter), asthma (P<0.005 at 44 cM), or atopy (P<0.005 at 54 cM). In the second phase of the present study, candidate gene GPR154, which is located in the phase one-linked region, was investigated in 211 families with seven single nucleotide polymorphisms (SNPs) that tag most haplotype variability, by the pedigree disequilibrium test. Elevated IgE levels were associated with two GPR154 gene SNPs (SNP 546333, P=0.0046; rs740 347, P=0.006), and with haplotypes in the global test (P=0.013). Haplotype analysis performed in nuclear families having at least 1 asthmatic parent showed a significant association with asthma (P=0.0173), atopy (P=0.0058), SPT (P=0.0025), and bronchial hyper reactivity (P=0.0163). Conclusion These results support a susceptibility locus for asthma and related phenotypes on chromosome 7, and are in agreement with recent reports suggesting that a common susceptibility factor for atopic manifestations in asthma is likely conferred by the locus containing the GPR154 gene. [source] Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletionsCLINICAL GENETICS, Issue 4 2008V Paracchini Cystic fibrosis (CF) is mainly caused by small deletions or missense mutations in the CFTR gene. The CF mutation database lists more than 35 large rearrangements that may escape detection using polymerase chain reaction-base techniques. The Innogenetics assay, the denaturing high-performance liquid chromatography and sequencing screening showed a mutation detection rate of 92.6% in our population. We report here the results of multiplex ligation-dependent probe amplification (MLPA) screening for CFTR gene rearrangements, performed on the unidentified alleles of our CF patients. Our sample population consists of 692 non-related Italian CF patients (for a total of 1384 alleles), followed at CF Centres in the Lombardia Region. MLPA analysis was performed in 49 patients who still had one or two unidentified alleles (for a total of 52 unidentified alleles) after extensive analysis of CFTR gene. All patients who were studied had the classical form of CF. We characterized nine different deletions and a new duplication. The deletion of exons 22,23 (7/82) was the most frequent in our cohort. The search for deletion/duplications of the CFTR gene has made it possible to reach a 94.1% detection rate, with an improvement (1.6%) of the carrier detection rate in the Italian population. [source] Distribution patterns of the Q and B biotypes of Bemisia tabaci in the Mediterranean Basin based on microsatellite variationENTOMOLOGIA EXPERIMENTALIS ET APPLICATA, Issue 3 2007B. Simón Abstract At least five of the biotypes described in the Bemisia tabaci (Gennadius) (Homoptera: Aleyrodidae) complex are known to be present in the Mediterranean Basin area. Only two of them, however, are economically relevant, that is, biotypes B and Q. Biological and genetic differences between the two biotypes have been well studied, but less is known about their patterns of genetic variation and population structure. To address these issues, a study was undertaken based on variation at six microsatellite loci among a subset of nine B. tabaci populations (five belonging to the Q and four to the B biotype). The data obtained show that (i) these loci showed considerable polymorphism in the Q and B biotypes populations although the presence of null alleles can obscure the picture; (ii) the Iberian-Q, Canarian-Q, and Egyptian-B populations exhibit heterozygosity excess as a result of bottleneck events; (iii) the low genetic differentiation between the Israeli, Iberian Peninsula, and Italian populations suggest that these populations share a common gene pool; (iv) the genetic distances between the Canarian-Q population and the geographically close population from Morocco indicates spatial isolation and a limited gene flow; and finally (v) the microsatellite data for the B populations indicate that the whiteflies from Egypt and Israel have a close phylogenetic relationship, but the source of these biotype B invasions into the Mediterranean area remains unknown. [source] The adaptive value of personality differences revealed by small island population dynamicsEUROPEAN JOURNAL OF PERSONALITY, Issue 1 2007Andrea S. Camperio Ciani Abstract Whether differences in personality among populations really exist and, if so, whether they are only due to cultural and linguistic differences or have a genetically selected adaptive value, is a controversial issue. In this research, we compared three Italian populations living on three small archipelagos in the Tyrrhenian Sea (n,=,993), with their corresponding neighbouring mainlanders (n,=,598), i.e. sharing the same geographical origin, culture and language. We used an adjective-based Big Five questionnaire in order to measure personality traits in four categories of individuals for each archipelago/mainland population: (1) original islanders; (2) non-original islanders; (3) mainlanders and (4) immigrants to the islands. We further analysed original and non-original islanders who had or had not emigrated from the islands. We found that islanders had different personality traits from mainlanders, the former being more conscientious and emotionally stable and less extraverted and open to experience. We also found that the subgroup of islanders whose ancestors had inhabited their island for about 20 generations in isolation (original islanders, n,=,624) were less extraverted and open to experience than immigrants (n,=,193). In contrast, immigrants retained the typical personality profile of the mainland populations. Lastly, emigrants from the islands (n,=,209) were significantly more extraverted and open to experience than original and non-original islanders who had never left their island (n,=,741). We hypothesise that population differences in extraversion and openness to experience are more probably related to genetic differences which evolved rapidly, presumably through an active gene flow produced by selective emigration from the islands. Copyright © 2006 John Wiley & Sons, Ltd. [source] HLA allele and haplotype frequencies in the Albanian population and their relationship with the other European populationsINTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 6 2009G. Sulcebe Summary Human leucocyte antigen (HLA) alleles are very interesting markers in identifying population relationships. Moreover, their frequency distribution data are important in the implementation of donor,recipient registry programs for transplantation purposes and also in determining the genetic predisposition for many diseases. For these reasons, we studied the HLA class I and II allele and haplotype frequencies in 160 healthy, unrelated Albanian individuals originating from all regions of the country. The HLA genotyping was performed through a 2-digit resolution SSOP method. The data were analysed with Arlequin and Phylip programs. No deviation was found from the Hardy,Weinberg equilibrium. A total of 17 A*, 30 B*, 12 Cw*, 13 DRB1* and 5 DQB1* alleles were identified. The six most frequent HLA-A-B-DRB1 haplotypes were A*02,B*18,DRB1*11 (5.60%), A*02,B*51,DRB1*16 (4.74%), A*01,B*08,DRB1*03 (3.48%), A*24,B*35,DRB1*11 (2.77%), A*02,B*51,DRB1*13 (2.21%), A*24,B*35,DRB1*14 (1.89%). Interestingly, 12 HLA-A-B-Cw-DRB1-DQB1 haplotypes occurred at a frequency >1%. When compared with the other populations, a close relationship was found with North Greek, Bulgarian, Macedonian, Romanian, Turkish, Cretan, Serbian, Croatian and Italian populations. A higher differentiation in allele frequency level was found with Western Europe populations. These data are the first report of HLA allele and haplotype distribution in an Albanian population inside this country. When compared with other populations, their distribution frequencies show close similarities with neighbouring populations of the entire Balkan area. [source] Sex Assessment from the Sacral Base by Means of Image ProcessingJOURNAL OF FORENSIC SCIENCES, Issue 2 2009Stefano Benazzi Ph.D. Abstract:, To help improve sex assessment from skeletal remains, the present study considers the diagnostic value of the sacral base (basis osseus sacri) based on its planar image and related metric data. For this purpose, 114 adult sacra of known sex and age from two early 20th century Italian populations were examined, the first from Bologna, northern Italy (n = 76), and the second from Sassari, Sardinia (n = 38). Digital photos of the sacral base were taken with each bone in a standardized orientation. Technical drawing software was used to trace its profile and to measure related dimensions (area, perimeter, and breadth of S1 and total breadth of the sacrum). The measurements were subjected to discriminant and classification function analyses. The sex prediction success of 93.2% for the Bolognese sample, 81.6% for the Sassarese sample, and 88.3% for the pooled sample indicates that the first sacral vertebra is a good character for sex determination. [source] Low level of gene flow from cultivated beets (Beta vulgaris L. ssp. vulgaris) into Danish populations of sea beet (Beta vulgaris L. ssp. maritima (L.) Arcangeli)MOLECULAR ECOLOGY, Issue 5 2005N. S. ANDERSEN Abstract Gene flow from sugar beets to sea beets occurs in the seed propagation areas in southern Europe. Some seed propagation also takes place in Denmark, but here the crop,wild gene flow has not been investigated. Hence, we studied gene flow to sea beet populations from sugar beet lines used in Danish seed propagation areas. A set of 12 Danish, two Swedish, one French, one Italian, one Dutch, and one Irish populations of sea beets, and four lines of sugar beet were analysed. To evaluate the genetic variation and gene flow, eight microsatellite loci were screened. This analysis revealed hybridization with cultivated beet in one of the sea beet populations from the centre of the Danish seed propagation area. Triploid hybrids found in this population were verified with flow cytometry. Possible hybrids or introgressed plants were also found in the French and Italian populations. However, individual assignment test using a Bayesian method provided 100% assignment success of diploid individuals into their correct subspecies of origin, and a Bayesian Markov chain Monte Carlo (MC MC) approach revealed clear distinction of individuals into groups according to their subspecies of origin, with a zero level of genetic admixture among subspecies. This underlines that introgression beyond the first hybridization is not extensive. The overall pattern of genetic distance and structure showed that Danish and Swedish sea beet populations were closely related to each other, and they are both more closely related to the population from Ireland than to the populations from France, the Netherlands, and Italy. [source] | |||||||||||||||||||||||||||||||