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Biomedical subjects

C Scapoli

Publications and source records attributed to C Scapoli.

At least 19 recordsLinked to original sources

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↗

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↗

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↗

Isonymy and isolation by distance in Italy.

The isonymy structure of Italy was studied using the surname distribution of 5,043,580 private telephone users selected from a 1996 commercial CD-ROM that contains all 24 million users in the country. The users were distributed in 123 towns selected on a geographic basis. The 123 towns were either on the main communication roads of the country or at the ends of such roads. The shortest distance between nearest neighbor towns was 5.3 km (Carrara and Massa), and the largest distance was 1,136 km (Aosta and Castrignano del Capo). The number of different surnames found in the whole analysis was 215,623. Lasker's distance, the negative value of the logarithm of random isonymy between localities, was linearly and significantly correlated with the logarithm of geographic distance, with r = 0.63 +/- 0.008. A dendrogram was built from the matrix of isonymy distances, using UPGMA. It separates the Italian towns into 5 main clusters: 1 in the southern portion of the country, a second cluster toward the center, and 3 in the northern area of Italy. Within each cluster small subclusters with specific geographic distributions could be related to regional borders. Comparisons with the results of a previous analysis of Switzerland and Germany's structures are given. From the present analysis isolation by distance emerges clearly, although it is less strong than in Switzerland and stronger than in Germany. The random component of inbreeding estimated from isonymy indicates that the southern area of Italy is on average more inbred than the northern area. In fact, the heterogeneity is greater in the northern area, particularly in the plain of the Po River, than anywhere else in Italy.

Cluster Analysis↗

Isonymy and isolation by distance in Germany.

The isonymy structure of Germany was studied using the surname distributions of 5,150,310 private telephone users selected from 39,000,000 users registered in a 1996 commercial CD-ROM, which contains all telephone users in the country. The users were distributed in 106 towns selected on a geographic basis. Germany was subdivided into 50 adjacent rectangles, each 115 x 80 km, and at least the largest town in the rectangle was selected for study; the private telephone users in that district were downloaded from the CD-ROM and included in the analysis. The shortest distance between nearest neighbor towns was 10.7 km (Travemunde and Lübeck), and the largest distance was 69.8 km (Meppen and Osnabruck). The number of different surnames found in the whole analysis was 462,526. Lasker's distance, the negative value of the logarithm of isonymy between localities, was found to be linearly and significantly correlated with geographic distance (r = 0.51 +/- 0.010). A dendrogram was built with the matrix of isonymy distances, using UPGMA. This method separates the German towns into two main clusters, one in the southern half of the country and the other in the northern half. Within each cluster small subclusters with specific geographic distributions could be delimited. The two main clusters correspond fairly well to the north-south division of German sublanguages (Nieder- and Mitteldeutsch in the north vs. Frankisch-Alemannisch in the south). The other clusters are related to minor sublanguages. Comparisons with the results of a previous analysis of Switzerland's structure are given. From the present analysis isolation by distance emerges clearly, although it is less strong than in Switzerland and indicates that Germany has a fairly homogeneous isonymy structure. The random component of inbreeding estimated from isonymy indicates that eastern Germany is on average more inbred than western Germany.

CD-ROM↗

Searching for migraine genes: exclusion of 290 cM out of the whole human genome.

A linkage and association analysis was made on 14 Italian families with recurrent migraine. We analyzed five chromosomal regions surrounding the candidate genes 5HT1D (1p36.3-34.3), 5HT1B (6q13), 5HT2A (13q14-21), 5HT transporter (17q11.2-12), CACNLB1 (17q11.2-22) and FHM (19p13), using 29 DNA polymorphic markers. All two-point lod scores were negative, and the chi 2 sib-pair analyses were not significant, thus indicating the probable exclusion of these regions as sites of migraine genes in our population.

Chromosome Mapping↗

A two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy.

Complex segregation analysis was conducted in a series of patients with hereditary non-polyposis colorectal cancer (HNPCC) ascertained through probands registered in the Cancer Registry of the Health Care District of Modena, Northern Italy. Altogether there were 125 nuclear families segregating for HNPCC, for a total of 672 individuals. The analysis favoured a two-locus model, with both susceptibility genes rare and dominant. The gene frequency of the deleterious allele at the major locus is estimated to be low qm = 0.004 and for the second locus the estimate is even lower q = 0.00003. Both genes defining the two-locus model seem to be highly penetrant. The lifetime penetrance of the abnormal gene at the major locus is estimated to be 0.73 for female, while the estimation for male is higher, 0.85.

Adult↗

Autosomal dominant polycystic kidney disease linked to PKD2 locus in a family with severe extrarenal manifestations.

We report a large three-generation autosomal dominant polycystic kidney disease family from Northern Italy found to be associated with the PKD2 locus. Hepatic involvement (liver cysts, fibrosis, cholelithiasis or jaundice), subarachnoidal hemorrhage (1 case) and esophageal diverticula (1 case) were present in affected individuals. Among the older members, the males (aged 54-61 years) had hepatic cysts or fibrosis and were on chronic hemodialysis, the females (aged 69 and 70 years) had hepatic cysts, hepatomegaly, mild fibrosis and a mild and moderate renal impairment, respectively. In this family, clinical findings do not differ substantially from those reported for PKD1.

Adolescent↗

Effect of pretreatment with ketorolac tromethamine on post-operative pain following periodontal surgery.

A double-blind, randomized, single-dose clinical trial to evaluate the analgesic efficacy of preoperative ketorolac tromethamine administration on periodontal postoperative pain was designed. One group received 20 mg ketorolac immediately before periodontal flap surgery, and the other group received placebo. Naproxen sodium was allowed postoperatively as rescue medication. The visual analog scale was used to estimate pain. Postoperative pain was assessed hourly for the first 10 h on the day of surgery, and 4 x daily on the 1st and 2nd postsurgical days. Timing and dose of rescue analgesic remedication were also recorded. Results indicated that preoperative treatment with ketorolac significantly reduced initial pain intensity and delayed the onset of postoperative pain as compared to placebo. Incidence and amount of naproxen consumption was similarly small in both ketorolac- and placebo-treated groups. No adverse reactions related to preoperative medication were observed.

Adult↗

Clinical effect of tetracycline demineralization and fibrin-fibronectin sealing system application on healing response following flap debridement surgery.

The aim of this controlled clinical trial was to assess the effect on healing following tetracycline (TTC) conditioning and fibrin-fibronectin sealing system (FFSS) application in association with flap debridement surgery (FDS) in 11 patients under treatment for moderate to severe periodontitis. Selection criteria included the presence of two bilateral, homologous, non-molar, interproximal sites with probing depth > or = 5 mm. The areas bilateral to the trial sites were matched for number and type of the teeth, and similar periodontal involvement. After initial therapy, a split-mouth design was used in which one area was treated by flap debridement surgery alone (control), and the contralateral area was treated following surgery with a 4-minute burnishing application of 100 mg/ml TTC solution and FFSS (test). Fibrin glue was applied with a syringe on the demineralized root surfaces and surrounding bone margins. Healing by primary intention was encouraged by flap repositioning with interrupted sutures left in place for 14 days. A monthly maintenance recall program was followed. Patients were clinically evaluated at baseline and 6 months and the following measurements were taken: gingival index, plaque control record, clinical attachment level, probing depth, recession, bleeding on probing. Statistical evaluation indicated that both approaches resulted in significant probing depth reduction and clinical attachment gain. However, the differences in healing between the test and control groups were not clinically nor statistically significant. These results suggest there is no additional benefit with TTC demineralization and topical FFSS application in conjunction with flap debridement surgery.

Adult↗

Clinical effect of subgingival tetracycline irrigation and tetracycline-loaded fiber application in the treatment of adult periodontitis.

A controlled clinical trial was carried out to compare the clinical effect of combined antimicrobial-mechanical treatment modalities on moderate-to-deep periodontal pockets in patients with adult periodontitis. Twelve patients having at least three nonadjacent sites of periodontitis were included in the split-mouth study. Gingival Index, Plaque Record, bleeding on probing, probing depth, attachment level, and recession depth were recorded immediately before treatment. In the control site, supragingival and subgingival scaling was performed with an ultrasonic scaler. One experimental site received supplemental irrigation with 15 mL of a 100-mg/mL tetracycline solution, while the other received a tetracycline-loaded fiber after mechanical instrumentation. Fibers were left in place for 10 days. Reevaluation 30 and 60 days after treatment showed that all three treatment modalities were effective in improving clinical parameters. No adjunctive effect on the healing response was obtained by augmenting mechanical debridement with tetracycline.

Administration, Topical↗

Serum cholesterol concentrations in parasuicide.

OBJECTIVE: To evaluate whether people who have committed parasuicide have low serum cholesterol concentrations. DESIGN: Results of blood tests in subjects admitted to hospital for parasuicide compared with those of a control group of non-suicidal subjects; comparison in subgroup of parasuicide subjects of two sets of blood test results (one set from admission for parasuicide and the other from admission for some other illness). SETTING: General hospital, Ferrara, Italy. SUBJECTS: 331 parasuicide subjects aged 44 (SD 21) years (109 with two sets of blood test results) and 331 controls. MAIN OUTCOME MEASURES: Serum cholesterol concentrations and possible association with parasuicide, considering sex, violence of method of parasuicide, and underlying psychiatric disorder. RESULTS: Lower serum cholesterol concentrations (4.96 (SD 1.16) mmol/l) were found in the parasuicide subjects than in the controls (5.43 (1.30); P < 0.001), regardless of sex and degree of violence of parasuicide method. Both men and women with two sets of blood test results had lower cholesterol concentrations after parasuicide. Linear regression analysis showed that the difference in cholesterol concentrations was significantly related to the length of time between the taking of the two sets of blood samples. CONCLUSION: The study showed low cholesterol concentrations after parasuicide. This finding agrees with previous studies, which suggest an association between low cholesterol concentration and suicide.

Adult↗

Phylogeny inferred from codon usage pattern in 31 organisms.

We employed the Codonusage database to analyze the codon usage pattern in 31 organisms from all the main biological taxa. We tested the similarity in codon usage pattern between each organism and all the others by the Pearson linear correlation coefficient. The 465 values obtained were located in a 31 x 31 triangular matrix from which a correlation distance matrix was calculated. An evolutionary dendrogram was then constructed from these distances. The results showed a fair correlation between codon usage patterns and phylogenetic relationships, at least for organisms which diverged in rather recent times (end of Jurassic--beginning of Cretaceous).

Animals↗

The usage of oligopeptides in proteins correlates negatively with molecular weight.

We scanned the Swissprot databank to study the distribution of oligopeptides in sequenced proteins. We observed that in 7839,000 amino acids in the bank, the frequency is strongly and negatively correlated with molecular weight. The correlation coefficient is -0.63 for single amino acids, -0.58 for dipeptides, -0.54 for tri- and -0.46 for tetrapeptides. In subsets of proteins of man, mouse, rat drosophila, yeast and E. coli, the correlations were very similar to those for the total database. The intensity of the correlation diminishes linearly with the length of the peptide. We attributed the loss of dominance of molecular weight in determining the frequency of oligopeptides of higher order, to the emergence of function in longer oligopeptides. In the case of dipeptides, we observed that those composed of the same amino acid are in great excess in comparison with their expectation. The WW dipeptide is singular, in the sense that is observed/expected ratio is 13.5 standard deviations above the average ratio.

Amino Acids↗

Healing response of human buccal gingival recessions treated with expanded polytetrafluoroethylene membranes. A retrospective report.

Twenty-four (24) deep wide buccal gingival recessions were treated with ePTFE membrane according to guided tissue regeneration principles (GTR). Factors affecting the surgical outcome of the regenerative procedure were retrospectively analyzed. In 16 cases, the barrier membrane was used in conjunction with tetracycline root conditioning and fibrin-fibronectin system application, and 8 cases were treated with the membrane alone. Healing response was evaluated 12 months after surgery. Since no difference was observed between the two treatment protocols, all available data were grouped. Mean recession depth was reduced from 4.6 mm to 1.3 mm postoperatively, which represents an average root coverage of 71.7%. Fifty percent (50%) of the cases showed clinical attachment gain greater than or equal to 4 mm and a mean increase of keratinized tissue of 1.0 mm was observed. Baseline recession depth and extent of membrane exposure at the reentry procedure significantly influenced the amount of newly-formed tissue under the membrane. Recession reduction positively correlated with the preoperative recession depth and the regenerated tissue gain. Treatment was also affected by tooth location, recession reduction, and attachment gain, being significantly greater in upper than lower archs. Results suggest that GTR technique represents a predictable procedure to improve the soft tissue conditions of deep mucogingival defects. Randomized controlled trials of other forms of management of mucogingival defects as compared to the GTR technique will be necessary to fully evaluate the utility of the GTR technique.

Adult↗

Possible identity of transcription and translation signals in early vital systems.

The distribution of codons was analysed in three classes of eukaryote proteins having widely different evolutionary rates: 78 histones, 40 tubulins, and seven fibrinogens. In this set of genes, (i) it was confirmed that codons which are components of known transcription signals, like ATA, are used infrequently when a synonym is available, particularly in the more constrained proteins, and (ii) it was observed that the three codons which have an iso-accepting transfer with anticodon UAA, UAG or UGA are also suppressed. Then, the distribution of UAA, UAG and UGA trimers was studied in 498 tDNAs and 198 rDNAs. It was found that these trimers are weakly but significantly suppressed in tDNAs and to a lesser extent in rDNAs. It was advanced that the present suppression of ATA, which codes for Methionine in several mitochondria, and of the TAA, TAG and TGA trimers in tDNAs, might be an indication that at the very early stages of the evolution of translation and transcription the signals for initiation and termination were shared by the two processes.

Amino Acid Sequence↗

Codon usage and evolutionary rates of proteins.

The 61 codons and the three terminators were counted in the coding sequences of 31 families of proteins of higher vertebrates. The protein families were ordered according to their evolutionary rate. In each family, the ratio between the Observed and Expected frequency of each codon was obtained (O/E ratio). A strong and significant positive correlation was observed between the O/E ratio of the eight codons AAC, TAT, ATA, GAA, ACA, AAT, ATG and CGA and the evolutionary rate of the protein. A negative and significant correlation was observed for codons AAG and GAG. It was advanced that the functional constraints of proteins can influence the usage of codons, particularly for those trimers which are components of signal sequences. It was also observed that the O/E ratios of the terminators are negatively correlated with the evolutionary rate of the protein they terminate, and the correlation is significant for TAA and TGA, which in vertebrates might be older than TAG.

Animals↗