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.

Brazilian Federal Universities : relative efficiency evaluation and data envelopment analysis

The papers aims at considering the issue of relative efficiency measurement in the context of the public sector. In particular, we consider the efficiency measurement approach provided by Data Envelopment Analysis (DEA). The application considered the main Brazilian federal universities for the year of 1994. Given the large number of inputs and outputs, this paper advances the idea of using factor analysis to explore common dimensions in the data set. Such procedure made possible a meaningful application of DEA, which finally provided a set of efficiency scores for the universities considered .

Are the preference and selection patterns of hermit crabs for gastropod shells species- or site-specific?

Experimental analyses of hermit crabs and their preferences for shells are essential to understand the intrinsic relationship of the crabs' dependence on shells, and may be useful to explain their shell use pattern in nature. The aim of this study was to evaluate the effect of crab species and site on the pattern of shell use, selection, and preference in the south-western Atlantic hermit crabs Pagurus brevidactylus and Pagurus criniticornis, comparing sympatric and allopatric populations. Differently from the traditional approach to evaluate shell preference by simply determining the shell selection pattern (i.e., the number of shells of each type selected), preference was defined (according to [Liszka, D., Underwood, AJ., 1990. An experimental design to determine preferences for gastropod shells by a hermit-crab. J. Exp. Mar. Biol. Ecol., 137(1), 47-62]) by the comparison of the number of crabs changing for a particular shell type when three options were given (Cerithium atratum, Morula nodulosa, and Tegula viridula) with the number of crabs changing for this same type when only this type was offered. The effect of crab species was tested at Cabelo Gordo Beach, where P. brevidacrylus was found occupying shells of C. atratum, M. nodulosa, and T viridula in similar frequencies, whereas P. criniticornis occupied predominantly shells of C atratum. In laboratory experiments the selection patterns of the two hermit-crab species for these three gastropods were different, with P criniticornis selecting mainly shells of C atratum, and R brevidactylus selecting more shells of M. nodulosa. The shell preference was also dependent on crab species, with P. criniticornis showing a clear preference for shells of C atratum, whereas P. brevidactylus did not show a preference for any of the tested shells. The effect of site was tested for the two species comparing data from Cabelo Gordo to Preta (P brevidactylus) and Araca beaches (P. criniticornis). The pattern of shell use, selection, and preference was demonstrated to be dependent on site only for P. brevidactylus. The results also showed that the shell use pattern of P criniticornis can be explained by its preference at both sites, whereas for P. brevidactylus it occurred only at Cabelo Gordo, where the absence of preference was correlated with the similar use of the three gastropod species studied. Finally, the results showed that the shell selection pattern cannot be considered as a measure of shell preference, since it overestimates crab selectivity. (C) 2009 Elsevier B.V. All rights reserved.

Characterization and selection of Bacillus thuringiensis isolates effective against Sitophilus oryzae

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Minimizing inter-genotypic competition effects to predict genetic values and selection in forestry genetic tests

The effect of competition is an important source of variation in breeding experiments. This study aimed to compare the selection of plants of open-pollinated families of Eucalyptus with and without the use of competition covariables. Genetic values were determined for each family and tree and for the traits height, diameter at breast height and timber volume in a randomized block design, resulting in the variance components, genetic parameters, selection gains, effective size and selection coincidence, with and without the use of covariables. Intergenotypic competition is an important factor of environmental variation. The use of competition covariables generally reduces the estimates of variance components and influences genetic gains in the studied traits. Intergenotypic competition biases the selection of open-pollinated eucalypt progenies, and can result in an erroneous choice of superior genotypes; the inclusion of covariables in the model reduces this influence.

Evaluation and development of passion fruit (Passiflora alata Dryander) propagated by cutting and seet in conditions of commercial orchard

The present work was conducted in a fruit tree propagation area of the Plant Production Department of the Faculdade de Ciencias Agrarias e Veterinarias, Universidade Estadual Paulista (FCAV/UNESP) in Jaboticabal, SP, and also in a commercial orchard in Araguari, MG, with the objective to verify the potential of vegetative growth (stem diameter, height of plants and leaf number) of plants of passion fruit (Passiflora alata Dryander), gotten by cutting and seed, comparing the initial development of plants in the field. This experiment was carried out from January 2002 to February 2003. The experiment using seeds was conducted at a shadow house, and the one that used cuttings in an intermitent mist. The cuttings and seeds were collected from adult plants which came from Passifloraceae Active Germoplasm Bank (BAG) of the Plant Production Department of FCAC/UNESP. For the cuttings, it was used the intermediate part of the branches in stadium of vegetative growth. The seeds, in order to obtain the seedlings, had been sown in plastic trays. Cuttings and seedlings were transplanted to plastic bags with substrate in shadow house and with daily irrigation. They were acclimatized and planted on field, after 60 days. on field, the stem diameter, plant height and number of leaves were better for cuttings than for seedlings in Jaboticabal, SP. In Araguari, MG, stem diameter was larger in the seedlings, which plant heights and number of leaves were larger on cuttings.

Breed and selection line differences in the temperament of beef cattle

O temperamento de quatro raças bovinas foi avaliado utilizando-se o teste de velocidade de fuga (FT) e o escore de comportamento (BST). FT foi definida como o tempo necessário para animais percorrerem uma distância de 2 m após a pesagem. BST foi baseada no comportamento dos animais na balança, amostrando-se quatro categorias de comportamento: movimentos, intensidade de respiração, vocalizações e coices. Os coeficientes de herdabilidade de FT e BST foram estimados com uso de um modelo de máxima verossimilhança restrita, considerando meio irmãos paternos. Caracu apresentou menores médias para BST do que as demais raças. Nelore apresentou resultados intermediários, seguida por Guzerat e Gyr com médias mais elevadas (p < 0,05). Resultados similares foram observados para FT, mas as médias de Caracu e Nelore não diferiram entre si. Observou-se baixa associação entre FT e BST (r p= -0,36; p < 0,01). A correlação entre rank de touros ordenados pelos seus valores preditos (p) para FT e BST foi moderada e negativa (r s = -0,63; p < 0,001). A herdabilidade de FT e BST foi de 0,35 e 0,34, respectivamente. A comparação de rebanhos Nelore com diferentes critérios de seleção para peso corporal mostrou que linhas de seleção podem modular positivamente o temperamento de Bos indicus.

Mutagenic evaluation and chemical investigation of Byrsonima intermedia A. Juss. leaf extracts

Byrsonima intermedia is a native species of the cerrado formation (tropical American savannah). In Brazil, this plant has been used for the treatment of fever, in ulcers, as a diuretic, as antiasthinatics and in skin infections. Members of the genus Byrsonima (Malpighiaceae) are employed not only in the folk medicine but also as food to make juice, jellies and liquor. The aim of this work was to evaluate the mutagenic effects of Byrsonima intermedia, common name 'murici'. Phytochernical analysis of methanol extract furnished (+)catechin, (-)-epicatechin, quercetin-3-O-beta-D-galactopyranoside, methyl gallate, gallic acid, quercetin-3-O-alpha-L-arabinopyranoside, amentoflavone, quercetin, querceti n-3-O-(2-O-galloyl)-beta-galactopyranoside and quei-eetin-3-O-(2-O-galloyl)-alpha-arabinopyranoside. Methanol, hydromethanol and chloroform extracts were evaluated in inutagenic assay with Salmonella typhimurium (Ames test) and mice (Micronucleus test). The methanolic extract presented signs of mutagenic activity for the strains TA98 and TA100 in the Ames assay. Mutagenicity was not observed in vivo. (c) 2007 Elsevier B.V.. All rights reserved.

Pharmacological Evaluation and Preliminary Pharmacokinetics Studies of a New Diclofenac Prodrug without Gastric Ulceration Effect

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

CENSUS HISTOGRAMS: A SIMPLE FEATURE EXTRACTION and MATCHING APPROACH FOR FACE RECOGNITION

Most face recognition approaches require a prior training where a given distribution of faces is assumed to further predict the identity of test faces. Such an approach may experience difficulty in identifying faces belonging to distributions different from the one provided during the training. A face recognition technique that performs well regardless of training is, therefore, interesting to consider as a basis of more sophisticated methods. In this work, the Census Transform is applied to describe the faces. Based on a scanning window which extracts local histograms of Census Features, we present a method that directly matches face samples. With this simple technique, 97.2% of the faces in the FERET fa/fb test were correctly recognized. Despite being an easy test set, we have found no other approaches in literature regarding straight comparisons of faces with such a performance. Also, a window for further improvement is presented. Among other techniques, we demonstrate how the use of SVMs over the Census Histogram representation can increase the recognition performance.

Oral cavity evaluation and dental chart registration of coati (Nasua nasua) in captivity

The aims of this study were to develop a dental chart evaluate any oral cavity disease, develop gypsum models the dental arches, and to register the occlusions found in coatis (Nasua nasua) in captivity. Formulation of the dental chart was assisted by intraoral radiographs from the head of an adult coati cadaver of the same species with the following dental formula: I 3/3, C 1/1, P 4/3, M 2/2. Seven live coatis of the Nasua nasua species were evaluated. Five of the seven coatis presented with various dental abnormalities as follows: dental plaque (71.4 %), gingivitis (71.4 %), periodontitis (57.1 %), dental stain (42.9 %), dental abrasion (57.1 %), dental fracture (57.1 %), pulp exposure (42.9 %), malocclusion (5 7.1 %) and supernumerary teeth (14.2 %).

Clinical evaluation and induced corneal vascularization study by native and anionic collagen membranes in rabbits corneas

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)