Imputation of non-genotyped individuals using genotyped progeny in Nellore, a Bos indicus cattle breed

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering

A number of speech disorders including stuttering have been shown to have important genetic contributions, as indicated by high heritability estimates from twin and other studies. We studied the potential contribution to stuttering from variants in the FOXP2 gene, which have previously been associated with developmental verbal dyspraxia, and from variants in the CNTNAP2 gene, which have been associated with specific language impairment (SLI). DNA sequence analysis of these two genes in a group of 602 unrelated cases, all with familial persistent developmental stuttering, revealed no excess of potentially deleterious coding sequence variants in the cases compared to a matched group of 487 well characterized neurologically normal controls. This was compared to the distribution of variants in the GNPTAB, GNPTG, and NAGPA genes which have previously been associated with persistent stuttering. Using an expanded subject data set, we again found that NAGPA showed significantly different mutation frequencies in North Americans of European descent (p = 0.0091) and a significant difference existed in the mutation frequency of GNPTAB in Brazilians (p = 0.00050). No significant differences in mutation frequency in the FOXP2 and CNTNAP2 genes were observed between cases and controls. To examine the pattern of expression of these five genes in the human brain, real time quantitative reverse transcription PCR was performed on RNA purified from 27 different human brain regions. The expression patterns of FOXP2 and CNTNAP2 were generally different from those of GNPTAB, GNPTG and NAPGA in terms of relatively lower expression in the cerebellum. This study provides an improved estimate of the contribution of mutations in GNPTAB, GNPTG and NAGPA to persistent stuttering, and suggests that variants in FOXP2 and CNTNAP2 are not involved in the genesis of familial persistent stuttering. This, together with the different brain expression patterns of GNPTAB, GNPTG, and NAGPA compared to that of FOXP2 and CNTNAP2, suggests that the genetic neuropathological origins of stuttering differ from those of verbal dyspraxia and SLI. Published by Elsevier Inc.

Território migratório - contigüidade socioterritorial de terras distintas: os Dekasseguis e a busca pela reterritorialização

This paper analyzes the new trends of Brazilian migration to Japan, more specifically in the process of redefining its territoriality on the political and administrative Japanese territory. This migration, known as Dekassegui movement, is based on the flow of Brazilians of Japanese descent in this country. The working part of a periodization of the movement, considering the political and economic situations of countries and account for aspects of the difficult adjustment of the pioneers, the change the temporal expectation of return and search for repossession of these immigrants in their most recent time frame After more than 27 years of migration is still common difficulties in the integrating the Brazilian front of Japanese society, and it is in this context, however, that migration projects take new directions, new meanings are created networks, strengthens relationships, change and so plans to build a new interaction with the territory. To understand this process, we consider as a theoretical analysis and territorial consolidation of field research in Japan, through questionnaires, to identify the processes of social integration of immigrants

Otimização de altitude de vôo para aeronaves executivas para economia de combustível e tempo

This work approaches, in a simplified manner, the analysis of an aircraft’s trajectory through the 3 main flight phases, climb, cruise and descent, related to fuel consumption and elapsed time. From this analysis is developed a tool that aims optimize the flight planning operational procedure, providing an altitude that comply with fuel saving during the trip, or minimizes the trip time. The use of any altitude is an operator’s decision, that aims comply with their operational needs of each trip, getting the results provided by the tool as a primary approach to the flight profile that also bring up economics aspects of each possibility of decision to be taken. Since the aeronautical Market has singular problems, as the flight altitude optimization, there is the need to solutions very customized that many times can not attend every restriction for each operator and its related kind of operation. When we talk about executive aircrafts, is possible to note that its operators does not have enough engineering and logistic support, when compared to huge airlines companies, to analyze all exceptions of each singular operation, creating many times wastes that can be avoiding with a tool described herein in this work

Anemia and hemoglobinopathies in pregnant women attended in a public hospital

Objectives: to identify the demographic profile and frequency of anemia and hemoglobinopathies, as a basis for future implementation of actions aimed at pregnant women in the public health domain. Method: this is a cross-sectional study developed with pregnant women attended in a university hospital at Mato Grosso do Sul, Brazil. Blood samples were collected for the erythrogram analysis for detection of anemia and selective and specific tests for abnormal hemoglobin. The patients regarded as indigenous and mentally ill, as well as inmates, were excluded from the research, as they represent a vulnerable population which needs a cohort different from that of the sample. For data collection, a particular questionnaire was used. The research was approved by the Ethics Committee of Universidade Federal de Mato Grosso do Sul (UFMS), under the Protocol 873/2006. Results: of the 215 pregnant women under study, 20% were adolescents; 36.3% had incomplete primary education; 53.0% were non-Caucasian; 43.3% were from Campo Grande, Mato Grosso do Sul, Brazil; and 21.1% were of European descent. 17.7% had some type of anemia and, in the evaluation of hemoglobinopathies, 4.7% of patients were detected with some abnormal hemoglobin, with the following frequencies: 3.3% with HbAS; 0.9% with HbAC; and 0.5% with intermediate β-thalassemia. Conclusion: the frequencies of anemia and hemoglobinopathy found in these pregnant women showed the importance of early diagnosis, revealing indicators able to provide a basis for preventive and assistance actions for adequate clinical monitoring, reducing maternal and neonatal morbimortality in the public health services. Descriptors: pregnant women; anemia; hemoglobinopathies; public health; nursing.

Avaliação da autozigosidade em vacas Nelore (Bos indicus) através de genótipos SNP de alta densidade

Pós-graduação em Medicina Veterinária - FCAV

Reconfiguração de sistemas de distribuição operando em vários níveis de demanda através de uma meta-heurística de busca em vizinhança variável

Pós-graduação em Engenharia Elétrica - FEIS

Relationship between race and clinical characteristics, extent of disease, and response to chemotherapy in patients with low-risk gestational trophoblastic neoplasia

Objective. To evaluate the potential effects of race on clinical characteristics, extent of disease, and response to chemotherapy in women with postmolar low-risk gestational trophoblastic neoplasia (GTN).Methods. This non-concurrent cohort study was undertaken including patients with FIGO-defined postmolar low-risk GTN treated with comparable doses and schedules of chemotherapy at the New England Trophoblastic Disease Center (NETDC) between 1973 and 2012. Racial groups investigated included whites, African American and Asians. Information on patient characteristics and response to chemotherapy (need for second line chemotherapy, reason for changing to an alternative chemotherapy, number of cycles/regimens, need for combination chemotherapy, and time to hCG remission) was obtained.Results. Of 316 women, 274 (86.7%) were white, 19 (6%) African American, and 23 (7.3%) Asian. African Americans were significantly younger than white and Asian women (p = 0.008). Disease presentation, and extent of disease, including antecedent molar histology, median time to persistence, median hCG level at persistence, rate of D&C at persistence, presence of metastatic disease, and FIGO stage and risk score were similar among races. Need for second line chemotherapy (p = 0.023), and median number of regimens (p = 0.035) were greater in Asian women than in other races.Conclusions. Low-risk GTN was more aggressive in Asian women, who were significantly more likely to need second line chemotherapy and a higher number of chemotherapy regimens to achieve complete remission than women of African American and Asian descent. Further studies involving racial differences related to clinical, biological and environmental characteristics are needed. (C) 2015 Published by Elsevier Inc.

Effect of IGF1, GH, and PIT1 markers on the genetic parameters of growth and reproduction traits in Canchim cattle

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

Interior-exterior point method with global convergence strategy for solving the reactive optimal power flow problem

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Biology Teachers'Conceptions of the Diversity of Life and the Historical Development of Evolutionary Concepts

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

Genome-wide association study and ancestral origins of the slick-hair coat in tropically adapted cattle

The slick hair coat (SLICK) is a dominantly inherited trait typically associated with tropically adapted cattle that are from Criollo descent through Spanish colonization of cattle into the New World. The trait is of interest relative to climate change, due to its association with improved thermo-tolerance and subsequent increased productivity. Previous studies localized the SLICK locus to a 4 cM region on chromosome (BTA) 20 and identified signatures of selection in this region derived from Senepol cattle. The current study compares three slick-haired Criollo-derived breeds including Senepol, Carora, and Romosinuano and three additional slick-haired cross-bred lineages to non-slick ancestral breeds. Genome-wide association (GWA), haplotype analysis, signatures of selection, runs of homozygosity (ROH), and identity by state (IBS) calculations were used to identify a 0.8 Mb (37.7-38.5 Mb) consensus region for the SLICK locus on BTA20 in which contains SKP2 and SPEF2 as possible candidate genes. Three specific haplotype patterns are identified in slick individuals, all with zero frequency in non-slick individuals. Admixture analysis identified common genetic patterns between the three slick breeds at the SLICK locus. Principal component analysis (PCA) and admixture results show Senepol and Romosinuano sharing a higher degree of genetic similarity to one another with a much lesser degree of similarity to Carora. Variation in GWA, haplotype analysis, and IBS calculations with accompanying population structure information supports potentially two mutations, one common to Senepol and Romosinuano and another in Carora, effecting genes contained within our refined location for the SLICK locus.

Evaluation of the temporal acoustic window for transcranial doppler in a multi-ethnic population in Brazil

The aim of this study was to relate the presence of a temporal acoustic window (TAW) to the variables sex, age and race. This observational study was conducted in patients under etiologic investigation after stroke, sickle-cell anemia and hospitalization in an intensive therapy neurologic unit. TAW presence was confirmed by bilateral assessment by two neurologists via transcranial Doppler (TCD). Multiple logistic regression was performed to explain the presence of the window as a function of sex, age and race. In 20% of the 262 patients evaluated, a TAW was not present. The incidence of TAW presence was greater in men (odds ratio [OR] = 5.4, 95% confidence interval [CI] = 2.5-11.7, p < 0.01); lower with increased age (OR = 0.9, 95% CI = 0.92-0.97, p < 0.01); and lower among those of African and Asian descent (OR = 0.32, 95% CI = 0.14-0.70, p = 0.005). On the basis of the results, more men than women had TAWs, and the decrease in TAWs was associated with increased age and African or Asian descent.

Comparison of frequency and time domain electromyography parameters in women with patellofemoral pain

Despite its high incidence, patellofemoral pain etiology remains unclear. No prior study has compared surface electromyography frequency domain parameters and surface electromyography time domain variables, which have been used as a classic analysis of patellofemoral pain. Thirty one women with patellofemoral pain and twenty eight pain-free women were recruited. Each participant was asked to descend a seven step staircase and data from five successful trials were collected. During the task, the vastus medialis and vastus lateralis muscle activities were monitored by surface electromyography. The data were processed and analyzed in four variables of the frequency domain (median frequency, low, medium and high frequency bands) and three time domain variables (Automatic, Cross-correlation and Visual Onset between the vastus medialis and vastus lateralis muscles). Reliability, Receiver Operating Characteristic curves and regression models were performed. The medium frequency band was the most reliable variable and different between the groups for both muscles, also demonstrated the best values of sensitivity and sensibility, 72% and 69% for the vastus medialis and 68% and 62% for the vastus lateralis, respectively. The frequency variables predicted the pain of individuals with patellofemoral pain, 26% for the vastus medialis and 20% for the vastus lateralis, being better than the time variables, which achieved only 7%. The frequency domain parameters presented greater reliability, diagnostic accuracy and capacity to predict pain than the time domain variables during stair descent and might be a useful tool to diagnose individuals with patellofemoral pain.

Characterization of biomechanical parameters during stair ascent

Stair climbing is a functional activity often cited as main complaint by patients with orthopedic – as patellofemoral pain syndrome – or neurologic alterations. Moreover, the stair climbing is usually used as therapeutic resource. However, few studies have been conducted to characterize the movement during the ascent or descent of stairs and these studies concluded that the high variability of the data could not confirm the results [Yu, 1997] . In this way, this study aimed to verify which parameters show less variation and so, are more appropriate to characterize the stair climbing.