Ex vivo evaluation of the accuracy of two electronic apex locators during root canal length determination in primary teeth

Aim To evaluate ex vivo the accuracy of two electronic apex locators during root canal length determination in primary incisor and molar teeth with different stages of physiological root resorption. Methodology One calibrated examiner determined the root canal length in 17 primary incisors and 16 primary molars (total of 57 root canals) with different stages of root resorption based on the actual canal length and using two electronic apex locators. Root canal length was measured both visually, with the placement of a K-file 1 mm short of the apical foramen or the apical resorption bevel, and electronically using two electronic apex locators (Root ZX II - J. Morita Corp. and Mini Apex Locator - SybronEndo) according to the manufacturers` instructions. Data were analysed statistically using the intraclass correlation (ICC) test. Results Comparison of the actual root canal length and the electronic root canal length measurements revealed high correlation (ICC = 0.99), regardless of the tooth type (single-rooted and multi-rooted teeth) or the presence/absence of physiological root resorption. Conclusions Root ZX II and Mini Apex Locator proved useful and accurate for apex foramen location during root canal length measurement in primary incisors and molars.

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: Identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis

We present clinical and molecular evaluation from a large cohort of patients with Stickler syndrome: 78 individuals from 21 unrelated Brazilian families. The patients were selected in a Hospital with a craniofacial dysmorphology assistance service and clinical diagnosis was based on the presence of cleft palate associated to facial and ocular anomalies of Stickler syndrome. Analysis of COL2A1 gene revealed 9 novel and 4 previously described pathogenic mutations. Except for the mutation c.556G>T (p.Gly186X), all the others were located in the triple helical domain. We did not find genotype/phenotype correlation in relation to type and position of the mutation in the triple helical domain. However, a significantly higher proportion of myopia in patients with mutations located in this domain was observed in relation to those with the mutation in the non-tripe helical domain (c.556G>T; P < 0.04). A trend towards a higher prevalence of glaucoma, although not statistically significant, was observed in the presence of the mutation c.556G>T. It is possible. that this mutation alters the splicing of the mRNA instead of only creating a premature stop codon and therefore it can lead to protein products of different ocular effects. One novel DNA variation (c.1266+7G>C) occurs near a splice site and it was observed to co-segregate with the phenotype in one of the two families with this DNA variation. As in silico analysis predicted that the c.1266+7G>C DNA variation can affect the efficiency of the splicing, we still cannot rule it out as non-pathogenic. Our study also showed that ascertainment through cleft palate associated to other craniofacial signs can be very efficient for identification of Stickler syndrome patients. Still, high frequency of familial cases and high frequency of underdevelopment of distal lateral tibial epiphyses observed in our patients suggested that the inclusion of this information can improve the clinical diagnosis of Stickler syndrome. (C) 2008 Elsevier Masson SAS. All rights reserved.

Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency

The aim of this work was to analyse C4 genotypes, C4 protein levels, phenotypes and genotypes in patients with the classical form of 21-hydroxylase deficiency. Fifty-four patients from 46 families (36 female, 18 male; mean age 10.8 years) with different clinical manifestations (31 salt-wasting; 23 simple-virilizing) were studied. Taq I Southern blotting was used to perform molecular analysis of the C4/CYP21 gene cluster and the genotypes were defined according to gene organization within RCCX modules. Serum C4 isotypes were assayed by enzyme-linked immunosorbent assay. The results revealed 12 different haplotypes of the C4/CYP21 gene cluster. Total functional activity of the classical pathway (CH50) was reduced in individuals carrying different genotypes because of low C4 concentrations (43% of all patients) to complete or partial C4 allotype deficiency. Thirteen of 54 patients presented recurrent infections affecting the respiratory and/or the urinary tracts, none of them with severe infections. Low C4A or C4B correlated well with RCCX monomodular gene organization, but no association between C4 haplotypes and recurrent infections or autoimmunity was observed. Considering this redundant gene cluster, C4 seems to be a well-protected gene segment along the evolutionary process.

Risk assessment of trihalomethanes from tap water in Fortaleza, Brazil

The cancer risks (CR) by oral ingestion, dermal absorption, and inhalation exposure of trihalomethanes (THM) from tap water of ten districts in Fortaleza, Brazil were estimated. The mean levels of THM compounds were obtained in Fortaleza tap water as follow: 63.9 mu g L(-1) for chloroform (CHCl(3)), 40.0 mu g L(-1) for bromodichloromethane (CHBrCl(2)), and 15.6 mu g L(-1) for dibromochloromethane (CHBr(2)Cl). Bromoform (CHBr(3)) was not detected. The mean CR for THMs in tap water is 3.96 x 10(-4). The results indicate that Fortaleza residents have a higher CR by inhalation than dermal absorption and oral ingestion. The CR for CHCl(3) contributes with 68% as compared with the total CR, followed by CHBrCl(2) (21%), and CHBr(2)Cl (11%). The hazard index (HI) is about ten times lower than unity, not indicating non-cancer effects.