MODY 2: Mutation identification and molecular ancestry in a Brazilian family

Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of genetic diseases characterized by a primary defect in insulin secretion and hyperglycemia, non-ketotic disease, monogenic autosomal dominant mode of inheritance, age at onset less than 25. years, and lack of auto-antibodies. It accounts for 2-5% of all cases of non-type 1 diabetes. MODY subtype 2 is caused by mutations in the glucokinase (GCK) gene. In this study, we sequenced the GCK gene of two volunteers with clinical diagnosis for MODY2 and we were able to identify four mutations including one for a premature stop codon (c.76C>T). Based on these results, we have developed a specific PCR-RFLP assay to detect this mutation and tested 122 related volunteers from the same family. This mutation in the GCK gene was detected in 21 additional subjects who also had the clinical features of this genetic disease. In conclusion, we identified new GCK gene mutations in a Brazilian family of Italian descendance, with one due to a premature stop codon located in the second exon of the gene. We also developed a specific assay that is fast, cheap and reliable to detect this mutation. Finally, we built a molecular ancestry model based on our results for the migration of individuals carrying this genetic mutation from Northern Italy to Brazil. © 2012 Elsevier B.V.

Entre Portugal e São Paulo: um percurso artístico em construção

Pós-graduação em Artes - IA

Patrimônio cultural e identidade territorial: estudo do bairro de Cascalho - Cordeirópolis-SP

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Explorando potencialidades para a criação de rede de apoio social a mulheres lusófonas que vivem com câncer de mama em Toronto, Canadá

Introduction: Health indicators tend to be altered due to the participation of people in social networks. Objective: To find out ideas of individuals belonging to Portuguese speaking communities in Toronto, Canada, about the possibility of creating a social support network for women experiencing breast cancer. Method: Nineteen participants of the present ethnographic and critical study answered to questions, providing their opinions regarding to the social support network and its positive and negative aspects. Also, the participants suggested other possible individuals who could participate and help in the creation of such network. Discussions were transcribed, analysed and coded using qualitative software called Atlas ti 6.0. Results: The main components for the creation of the social support network were: the demystification of breast cancer and its prevention, emphasis in health education, dissemination of the need of volunteers and a direct social support to those women. The positive aspects were the participation of oldest women as social leaders and the utilization of schools and religious institutions for publicity. Negative aspects that were perceived as barriers are: the belief that breast cancer is a disease lived by women, the lack of knowledge about its cure and rehabilitation, as well as a collective sensitiveness to it. Also, about the participation of community leaders, the suggestions were: diplomats, priests and pastors, schools directors and communication entrepreneurs. Conclusion: The creation of the social support network should consider the cultural sensitiveness and the inner diversity of the consulted Portuguese speaking communities. Due to the insufficient number of Angolan participants to sustain a major analysis, a special recommendation was that Angolan social leaders and professionals should be invited to design the structure of such network according to their specific cultural traits.

Em busca do Império: a trajetória intelectual e política de Eduardo Prado

Pós-graduação em História - FCHS

A construção da nação arco-íris: problematizando o quesito raça/cor (1936-1960)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Detecção de impressões digitais falsas no reconhecimento biométrico de pessoas

Pós-graduação em Ciência da Computação - IBILCE

SPATIAL-ORGANIZATION OF FORAGING ACTIVITY AND COLONIZATION BY COLONY EMIGRATION IN THE PHARAOH ANT, MONOMORIUM-PHARAONIS

Using food bait stations and colony trap nests, the spatial relation between the foraging activity of established colonies of the polygynous and unicolonial exotic pharaoh's ant, Monomorium pharaonis, and colonization by colony fragments was studied over an 8 month period in a large institutional setting in Brazil. Both foraging activity and colonizations demonstrated significant spatial clumping. However, colonizations were significantly negatively clumped spatially with respect to foraging activity. This suggests that the colonization strategy of this species under the studied conditions was that of complete habitat domination.

Strain variability in the DNA immigration control region (ICR) of Xylella fastidiosa

The genome of the bacterium Xylella fastidiosa contains four ORFs (XF2721, XF2725, XF2739 and XF0295) related to the restriction modification type I system, ordinarily named R-M. This system belongs to the DNA immigration control region (ICR). Each CIRF is related to different operon structures, which are homologues among themselves and with subunit Hsd R from the endonuclease coding genes. In addition, these ORFs are highly homologous to genes in Pseudomonas aeruginosa, Methylococcus capsulatus str. Bath, Legionella pneumophila, Helicobacter pylori, Xanthomonas oryzae pv. Oryzae and Silicibacter pomeroyi, as well as to genes from X. fastidiosa strains that infect grapevine, almond and oleander plants. This study was carried out on R-M ORFs from forty-three X. fastidiosa strains isolated from citrus, coffee, grapevine, periwinkle, almond and plum trees, in order to assess the genetic diversity of these loci through PCR-RFLP. PCR-RFLP analysis of the four ORFs related to the R-M system from these strains enabled the detection of haplotypes for these loci. When the haplotypes were defined, wide genetic diversity and a large range of similar strains originating from different hosts were observed. This analysis also provided information indicating differences in population genetic structures, which led to detection of different levels of gene transfer among the groups of strains. (c) 2005 Elsevier SAS. All rights reserved.

Low levels of realized seed and pollen gene flow and strong spatial genetic structure in a small, isolated and fragmented population of the tropical tree Copaifera langsdorffii Desf

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

Phylogeography and genetic population structure of Caribbean sharpnose shark Rhizoprionodon porosus

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

Effects of selective logging on the mating system and pollen dispersal of Hymenaea courbaril L. (Leguminosae) in the Eastern Brazilian Amazon as revealed by microsatellite analysis

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Contemporary pollen flow, mating patterns and effective population size inferred from paternity analysis in a small fragmented population of the Neotropical tree Copaifera langsdorffii Desf. (Leguminosae-Caesalpinioideae)

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

Panorama of immigration for Sao Paulo following the Second World War

This article proposes to analyze the results of a research conducted in the São Paulo Immigrants Memorial, whose purpose was to work with an agreement between the state of São Paulo and the Union, according to which the state committed itself to receive, from May 1947 to 1952, immigrants of different European nationalities. Such immigrants had a specific characteristic that conferred them a peculiar status in the eyes of the United Nations, given the fact that they originated from Germany and Austria and where either displaced persons or refugees who could not or did not want to return to their homelands, for several reasons. Italians represented only 0,12% of this group. Italian immigration to Brazil became significant only after 1950, due to the Brazil-Italy immigration agreements.

Frequency of reported European ancestry among multiple sclerosis patients from four cities in the southern and southeastern regions of Brazil

Recent reports on the prevalence of multiple sclerosis (MS) have described discrepancies between the rates in cities in the northeastern and southeastern regions of Brazil, representing a north-south gradient. European immigrants settled in southeastern and southern Brazil at the beginning of the twentieth century. In this study, we report the frequency of European ancestors among Brazilian MS patients in four cities in the southern and southeastern regions of Brazil. Methods: A total of 652 consecutive patients with confirmed MS diagnoses seen at four centers in Belo Horizonte, Ribeirão Preto, Londrina and Santos were asked about the origin of their ancestors, going back three generations. Results: 287 (44%) reported Italian ancestry, 211 (32%) reported that all ancestors were born in Brazil, 49 (7.5%) had Portuguese ancestry and 70 (10%) had Spanish ancestry. The patients in Belo Horizonte and Londrina reported higher proportions of Italian ancestry than the proportions estimated for the populations of their respective States. Conclusion: Brazil has a north-south gradient of 0.91/100,000 per degree of latitude, which is higher than the gradient for Latin America. Since the largest immigrant group that settled in southern and southeastern Brazil was from Italy, it is possible that Italian immigration was one of the factors that have contributed toward increasing the prevalence of MS in these regions. © 2013 Elsevier B.V. All rights reserved.