27 resultados para Education of Genetics

em Biblioteca Digital da Produção Intelectual da Universidade de São Paulo


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Objective: To test the null hypothesis: Subjects with isolated complete unilateral cleft lip and palate (UCLP) show no differences in overall frequency of tooth agenesis (hypodontia), comparing a subsample with cleft-side maxillary lateral incisor (MxI2) agenesis to a subsample without cleftside MxI2 agenesis. Findings could clarify the origins of cleft-side MxI2 agenesis. Materials and Methods: Tooth agenesis was identified from dental radiographs of 141 subjects with UCLP. The UCLP cohort was segregated into four categories according to the status and location of MxI2 in the region of the unilateral cleft: group M: subjects with one tooth, located on the mesial side of the alveolar cleft; group D: subjects with one tooth, located on the distal side of the alveolar cleft; group MD: subjects with two teeth present, one mesial and one distal to the cleft; and group ABS: subjects with lateral incisor absent (agenesis) in the cleft area. Results: The null hypothesis was rejected. Among UCLP subjects, there was a twofold increase (P < .0008) in overall frequency of tooth agenesis outside the cleft region in a subsample with cleftside MxI2 agenesis (ABS), compared to a subsample presenting with no agenesis of the cleft-side MxI2 (M+D+MD). Conclusions: Cleft-side MxI2 agenesis in CLP subjects appears to be largely a genetically controlled anomaly associated with cleft development, rather than a collateral environmental consequence of the adjacent cleft defect, since increased hypodontia involving multiple missing teeth observed remote from a cleft clearly has a significant genetic basis. (Angle Orthod. 2012;82:959-963.)

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The success of agribusiness in Brazil in recent decades is unquestionable. Although the country has always had favorable conditions for agriculture (land, water and climate), this success has only come about recently, due to scientific research, which has resulted in considerable increases in yield and in improvement of product quality, as well as making the occupation of new agricultural frontiers possible. A decisive factor for development of agriculture in the country was the creation of EMBRAPA in 1973, which, in a few years, led to considerable demand for researchers with training in graduate programs. Among them are plant breeders, who came to exercise their activity throughout the country and in all ecosystems. The training of plant breeders was only possible because, as from the middle of the 1960s, the country began a wide-ranging education program, with the creation of several graduate programs in genetics and plant breeding.

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This study examines the paramilitary training carried out by the Integralist Militia (Militia Integralista), unit of the Brazilian Integralist Action (Acao Integralista Brasileira, AIB) of the extreme right wing political party in Brazil in the 1930s. The training was aimed to create the "integral soldier", a "physically strong, intelligent and soul superior" one. The study analyzes issues of the newspaper "Monitor Integralista", a prescriptive and dogmatic journal of the movement, found in the Public and History Archives of the city of Rio Claro, State of Sao Paulo, and in the "A Offensiva" newspaper, microfilmed an archived at the National Library of Rio de Janeiro. It concludes that Plinio Salgado's goal, the National Head of the AIB, was to train, by using verbal persuasion, speeches, word of mouth and by vote, by force and physical combat, the integralists to defend the causes of the movement.

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Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date. To define the etiology of MFDM, we employed whole-exome sequencing of four unrelated affected individuals and identified heterozygous mutations or deletions of EFTUD2 in all four. Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. A range of EPTUD2-mutation types, including null alleles and frameshifts, is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date. U5-116kD, the protein encoded by EFTUD2, is a highly conserved spliceosomal GTPase with a central regulatory role in catalytic splicing and post-splicing-complex disassembly. MFDM is the fast multiple-malformation syndrome attributed to a defect of the major spliceosome. Our findings significantly extend the range of reported spliceosomal phenotypes in humans and pave the way for further investigation in related conditions such as Treacher Collins syndrome.

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This is a quasi-experimental study performed using a short-term educational intervention involving nursing aides working in a Surgery Department, with the objective to identify the social and professional characteristics of the nursing aides, identify the differences in their knowledge regarding hypothermia following the educational intervention, and relate the nursing actions to the studied variables. It was found that the educational intervention was effective, considering that the difference in the mean nursing actions was 5.35 following the intervention. However, no significant difference was found regarding the nursing actions related to the studied variables. Further studies should be performed to investigate the education of nursing professionals considering their significant learning requirements in different units.

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Shift workers from control centers of electrical systems are a group that has received little attention in Brazil. This study aimed to compare workers' job satisfaction at five control centers of a Brazilian company electrical system, and according to their job titles. Method: The Organization Satisfaction Index (OSI) questionnaire to assess job satisfaction was used. ANOVA was used to compare OSI means, according to job title and control center. The results showed that there is no difference in job satisfaction among job titles, but a significant difference was found according to the control center. A single organizational culture cannot be applied to several branches. It is required to implement actions that would result in job satisfaction improvements among workers of all studied control rooms centers. The high level of education of operators working in all centers might have contributed to the similar values of perceived satisfaction among distinct job titles.

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Objective: To evaluate the prevalence and nutritional and social determinants of overweight in a population of schoolchildren in Southern Brazil. Methods: Cross-sectional descriptive study of 5,037 children of both genders, between 6 and 10.9 years of age, from public and private schools of Maringa, Parana, Brazil. Evaluation of factors associated with excess weight (overweight and obesity) included gender, age, school type, socioeconomic level, education of the head of the family, eating habits, and means of commuting to school. After univariate analysis (Fisher's exact test), we adjusted a logistic regression model and used Wald's test for decision-making (p < 0.05). Results: The mean age was 8.7 +/- 1.3 years, with 52.8% females; 79.1% of the students attended public school and 54.6% had families of socioeconomic class A or B. Regarding nutritional status, 24% of children were overweight (7% obesity, 17% overweight). Being male, attending a private school, and having a head of the family with over four years of education were significantly associated with excess weight. In relation to food, inadequate intake of,carbohydrates was associated with a 48% greater chance of overweight/obesity (p < 0.001; OR: 1.48; 95% CI: 1.25-1.76), Conclusion: The prevalence of overweight found in this study is approximate to that reported in national studies. Its association with gender and inadequate food intake indicates that these factors should be considered in initiatives aimed at preventive measures in childhood.

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The differential production cross section of electrons from semileptonic heavy-flavor hadron decays has been measured at midrapidity (\y\ < 0.5) in proton-proton collisions at root s = 7 TeV with ALICE at the LHC. Electrons were measured in the transverse momentum range 0.5 < p(t) < 8 GeV/c. Predictions from a fixed-order perturbative QCD calculation with next-to-leading-log resummation agree with the data within the theoretical and experimental uncertainties. DOI: 10.1103/PhysRevD.86.112007

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The activity of natural killer cells depends on the balance between activating and inhibitory signals coming from their receptors. Among these are the killer cell immunoglobulin-like receptors (KIR) that recognize specific HLA class I allotypes. Here we characterized KIR genetic diversity and their HLA ligands in the population of Curitiba, Parana State (n = 164), and compared it with other worldwide populations. The distribution of 2DL4 alleles was also analyzed. The Curitiba population did not differ significantly from European and Euro-descendant populations, but as an admixed population showed higher genetic diversity. We found 27 KIR profiles, many of them uncommon in European populations, in agreement with the elevated historically recent gene flow in the study population. The frequencies of KIR genes and their respective HLA ligands were distributed independently and none of the analyzed individuals lacked functional KIR-HLA ligand combinations. KIR gene frequencies of 33 worldwide populations were consistent with geographic and ethnic distribution, in agreement with demography being the major factor shaping the observed gene content diversity of the KIR locus.

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The aim of this study was to classify some markers of common herbs used in Western medicine according to the Biopharmaceutical Classification System (BCS). The BCS is a scientific approach to classify drug substances based upon their intestinal permeability and their solubility, at the highest single dose used, within the physiologically relevant pH ranges. Known marker components of twelve herbs were chosen from the USP Dietary Supplement Compendium Monographs. Different BCS parameters such as intestinal permeability (P-eff) and solubility (C-s) were predicted using the ADMET Predictor, which is a software program to estimate biopharmaceutical relevant molecular descriptors. The dose number (D-0) was calculated when information from the literature was available to identify an upper dose for individual markers. In these cases the herbs were classified according to the traditional BCS parameters using Peff and Do. When no upper dose could be determined, then the amount of a marker that is just soluble in 250 mL of water was calculated. This value, M-x, defines when a marker is changing from highly soluble to poorly soluble according to BCS criteria. This biopharmaceutically relevant value can be a useful tool for marker selection. The present study showed that a provisional BCS classification of herbs is possible but some special considerations need to be included into the classification strategy. The BCS classification can be used to choose appropriate quality control tests for products containing these markers. A provisional BCS classification of twelve common herbs and their 35 marker compounds is presented.

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Oil content and grain yield in maize are negatively correlated, and so far the development of high-oil high-yielding hybrids has not been accomplished. Then a fully understand of the inheritance of the kernel oil content is necessary to implement a breeding program to improve both traits simultaneously. Conventional and molecular marker analyses of the design III were carried out from a reference population developed from two tropical inbred lines divergent for kernel oil content. The results showed that additive variance was quite larger than the dominance variance, and the heritability coefficient was very high. Sixteen QTL were mapped, they were not evenly distributed along the chromosomes, and accounted for 30.91% of the genetic variance. The average level of dominance computed from both conventional and QTL analysis was partial dominance. The overall results indicated that the additive effects were more important than the dominance effects, the latter were not unidirectional and then heterosis could not be exploited in crosses. Most of the favorable alleles of the QTL were in the high-oil parental inbred, which could be transferred to other inbreds via marker-assisted backcross selection. Our results coupled with reported information indicated that the development of high-oil hybrids with acceptable yields could be accomplished by using marker-assisted selection involving oil content, grain yield and its components. Finally, to exploit the xenia effect to increase even more the oil content, these hybrids should be used in the Top Cross((TM)) procedure.

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Air Force Office of Scientific Research (AFOSR)

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PURPOSE. We previously demonstrated that most eyes have regionally variable extensions of Bruch's membrane (BM) inside the clinically identified disc margin (DM) that are clinically and photographically invisible. We studied the impact of these findings on DM- and BM opening (BMO)-derived neuroretinal rim parameters. METHODS. Disc stereo-photography and spectral domain optical coherence tomography (SD-OCT, 24 radial B-scans centered on the optic nerve head) were performed on 30 glaucoma patients and 10 age-matched controls. Photographs were colocalized to SD-OCT data such that the DM and BMO could be visualized in each B-scan. Three parameters were computed: (1) DM-horizontal rim width (HRW), the distance between the DM and internal limiting membrane (ILM) along the DM reference plane; (2) BMO-HRW, the distance between BMO and ILM along the BMO reference plane; and (3) BMO-minimum rim width (MRW), the minimum distance between BMO and ILM. Rank-order correlations of sectors ranked by rim width and spatial concordance measured as angular distances between equivalently ranked sectors were derived. RESULTS. The average DM position was external to BMO in all quadrants, except inferotemporally. There were significant sectoral differences among all three rim parameters. DM- HRW and BMO-HRW sector ranks were better correlated (median rho = 0.84) than DM- HRW and BMO-MRW (median rho = 0.55), or BMO-HRW and BMO-MRW (median rho = 0.60) ranks. Sectors with the narrowest BMO-MRW were infrequently the same as those with the narrowest DM-HRW or BMO-HRW. CONCLUSIONS. BMO-MRW quantifies the neuroretinal rim from a true anatomical outer border and accounts for its variable trajectory at the point of measurement. (Invest Ophthalmol Vis Sci. 2012;53:1852-1860) DOI:10.1167/iovs.11-9309

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The effect of event background fluctuations on charged particle jet reconstruction in Pb-Pb collisions at root s(NN) = 2.76 TeV has been measured with the ALICE experiment. The main sources of non-statistical fluctuations are characterized based purely on experimental data with an unbiased method, as well as by using single high p(t) particles and simulated jets embedded into real Pb-Pb events and reconstructed with the anti-k(t) jet finder. The influence of a low transverse momentum cut-off on particles used in the jet reconstruction is quantified by varying the minimum track p(t) between 0.15 GeV/c and 2 GeV/c. For embedded jets reconstructed from charged particles with p(t) > 0.15 GeV/c, the uncertainty in the reconstructed jet transverse momentum due to the heavy-ion background is measured to be 11.3 GeV/c (standard deviation) for the 10% most central Pb-Pb collisions, slightly larger than the value of 11.0 GeV/c measured using the unbiased method. For a higher particle transverse momentum threshold of 2 GeV/c, which will generate a stronger bias towards hard fragmentation in the jet finding process, the standard deviation of the fluctuations in the reconstructed jet transverse momentum is reduced to 4.8-5.0 GeV/c for the 10% most central events. A non-Gaussian tail of the momentum uncertainty is observed and its impact on the reconstructed jet spectrum is evaluated for varying particle momentum thresholds, by folding the measured fluctuations with steeply falling spectra.

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The ALICE Collaboration has measured the inclusive production of muons from heavy-flavor decays at forward rapidity, 2.5 < y < 4, in pp and Pb-Pb collisions at root s(NN) = 2.76 TeV. The p(t)-differential inclusive cross section of muons from heavy-flavor decays in pp collisions is compared to perturbative QCD calculations. The nuclear modification factor is studied as a function of p(t) and collision centrality. A weak suppression is measured in peripheral collisions. In the most central collisions, a suppression of a factor of about 3-4 is observed in 6 < p(t) < 10 GeV/c. The suppression shows no significant p(t) dependence.