986 resultados para IDENTICAL-TWINS
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Relationships between accuracy and speed of decision-making, or speed-accuracy tradeoffs (SAT), have been extensively studied. However, the range of SAT observed varies widely across studies for reasons that are unclear. Several explanations have been proposed, including motivation or incentive for speed vs. accuracy, species and modality but none of these hypotheses has been directly tested. An alternative explanation is that the different degrees of SAT are related to the nature of the task being performed. Here, we addressed this problem by comparing SAT in two odor-guided decision tasks that were identical except for the nature of the task uncertainty: an odor mixture categorization task, where the distinguishing information is reduced by making the stimuli more similar to each other; and an odor identification task in which the information is reduced by lowering the intensity over a range of three log steps. (...)
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Dissertação de mestrado em Construção e Reabilitação Sustentáveis
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Dissertação de mestrado em Direito dos Contratos e das Empresas
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Dissertação de mestrado em Engenharia de Materiais
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Duplicates are common in germplasm banks and their identification is needed to facilitate germplasm bank management and to reduce maintenance costs. The aim of this work was to identify duplicates of cassava from a germplasm bank in Eastern Amazon, which had been previously characterized both morphological and agronomically. In order to be genotyped with 15 microsatellite loci, 36 accessions were selected. These accessions were classified into 13 groups of similar morpho-agronomical characteristics. All loci were polymorphic, and 75 alleles were identified, with an average of five alleles per loci and H E = 0.66. There were determined 34 pairs of genotypes with identical multiloci profiles and the probability of genetic identity was 1.1x10-12 with probability of exclusion of 99.9999%. Among these duplicates, there are accessions sampled on different years and places, but with different names and accessions with the same name sampled in different places and years. The study identified genotypes that are grown in different places and that have been maintained over the years by local farmers.
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Invasive cervical cancer (ICC) is the third most frequent cancer among women worldwide and is associated with persistent infection by carcinogenic human papillomaviruses (HPVs). The combination of large populations of viral progeny and decades of sustained infection may allow for the generation of intra-patient diversity, in spite of the assumedly low mutation rates of PVs. While the natural history of chronic HPVs infections has been comprehensively described, within-host viral diversity remains largely unexplored. In this study we have applied next generation sequencing to the analysis of intra-host genetic diversity in ten ICC and one condyloma cases associated to single HPV16 infection. We retrieved from all cases near full-length genomic sequences. All samples analyzed contained polymorphic sites, ranging from 3 to 125 polymorphic positions per genome, and the median probability of a viral genome picked at random to be identical to the consensus sequence in the lesion was only 40%. We have also identified two independent putative duplication events in two samples, spanning the L2 and the L1 gene, respectively. Finally, we have identified with good support a chimera of human and viral DNA. We propose that viral diversity generated during HPVs chronic infection may be fueled by innate and adaptive immune pressures. Further research will be needed to understand the dynamics of viral DNA variability, differentially in benign and malignant lesions, as well as in tissues with differential intensity of immune surveillance. Finally, the impact of intralesion viral diversity on the long-term oncogenic potential may deserve closer attention.
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Tese de Doutoramento em Engenharia Industrial e de Sistemas
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Surveying the evolution of blood pressure (BP) levels and hypertension (HTN) prevalence is important. A stringent strategy was utilized in a population cohort study. The BP was measured at two visits at least 3 months apart, and the results were analyzed using the following two methods: the Surveillance method (three BP measurements were performed in one visit, and the results were compared with those published previously for the identical method) and the Clinical method (three measurements per visit for two visits, and the concordant results in both visits were used to determine the BP classification). A total of 2542 subjects completed the evaluation. Using the Clinical method, an average systolic/diastolic BP value of 129.8/76.8?mm?Hg was obtained, and the prevalence of HTN was 31.6%. Of the hypertensive patients, 74.3% were aware of his/her condition; 69.1% were treated and 40.8% of those treated had adequate BP control. A total of 24.7% of subjects changed his/her BP classification between visits, and 13.7% misreported HTN. Using the Surveillance method, we determined that the average global SBP has been maintained, with HTN prevalence increasing in this region, drifting from reported trends nationally and worldwide. There has been improvement in the proportion of treated and controlled subjects; however, the Surveillance method overestimated the HTN prevalence and underestimated the proportion of treated and controlled subjects. The BP levels were higher than observed worldwide in high-cardiovascular (CV) risk countries as well as higher than the minimum risk exposure level for developing CV disease.
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Dissertação de mestrado integrado em Engenharia Civil
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Dissertação de mestrado em Contabilidade
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Dissertação de mestrado em Direito Judiciário (Direitos Processuais e Organização Judiciária)
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Beginning with a patient presenting with an atrial septal defect (ASD) of the secundum type, the genealogy was identified in four affected individuals who belonged to three successive generations of the same family. The defects were visually confirmed in all individuals and were found to be anatomically similar. No other congenital malformations were present in these individuals. The genealogy was identified in 1972, when ASD recurred in two generations, and it was concluded that the mechanism of transmission was autosomal recessive. The fifth individual, identified 21 years later, and having an anomaly identical to that of the others, was the child of a couple who had no consaguinity and whose mother was a member of the previously studied genealogy. Considering the absence of phenotype in the parents and the rarity of the ASD gene in the general population, the occurrence of the uniparental disomy for this family nucleus, and the same autosomal recessive mechanism of transmission by this affected individual is possible. This study reports the familial occurrence of ASD by genetic mechanisms of transmission, emphasizing the necessity for genetic-clinical studies in members of the familial nucleus in order to detect new carriers, who usually are asymptomatic, thereby allowing for early and adequate treatment of individuals who may be affected.
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OBJECTIVE: To assess pregnancy outcome in women with peripartum cardiomyopathy and to compare it with idiopathic cardiomyopathy. METHODS: Twenty-six pregnant women, aged 28.4±6.1 years, with dilated cardiomyopathy were followed. Eighteen patients had peripartum cardiomyopathy [11 with persistent left ventricular systolic dysfunction (EF=45.2±2) and 7 with recovered ventricular function (EF=62.3±3.6)]. The 8 remaining patients had idiopathic cardiomyopathy (EF= 43.5±4.1). During the prenatal period, limited physical activity and a low-sodium diet were recommended, and hospitalization was recommended when complications occurred. RESULTS: Of the 26 patients, 11 (42.3%) had a normal delivery; 9(35.5%) had cardiac complications, 6 (22.2%) had obstetric complications. Two patients (7.7%) died. Two preterm pregnancies occurred, with 26 health newborns (2 sets of twins). Two miscarriages took place. The cardiac complication rate during pregnancy was lower (p<0.009) in the peripartum cardiomyopathy group without ventricular dysfunction and greater (p=0.01) in the idiopathic group when compared with the peripartum group with ventricular dysfunction. Changes in left ventricular ejection fraction were not observed (p<0.05) in the postpartum period, when compared with that during pregnancy in the 3 groups. CONCLUSION: Pregnancy in patients with dilated cardiomyopathy is associated with maternal morbidity. Left ventricular function is a prognostic factor and must be the most parameter when counseling patients with peripartum cardiomyopathy about a new pregnancy.
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The classical central limit theorem states the uniform convergence of the distribution functions of the standardized sums of independent and identically distributed square integrable real-valued random variables to the standard normal distribution function. While first versions of the central limit theorem are already due to Moivre (1730) and Laplace (1812), a systematic study of this topic started at the beginning of the last century with the fundamental work of Lyapunov (1900, 1901). Meanwhile, extensions of the central limit theorem are available for a multitude of settings. This includes, e.g., Banach space valued random variables as well as substantial relaxations of the assumptions of independence and identical distributions. Furthermore, explicit error bounds are established and asymptotic expansions are employed to obtain better approximations. Classical error estimates like the famous bound of Berry and Esseen are stated in terms of absolute moments of the random summands and therefore do not reflect a potential closeness of the distributions of the single random summands to a normal distribution. Non-classical approaches take this issue into account by providing error estimates based on, e.g., pseudomoments. The latter field of investigation was initiated by work of Zolotarev in the 1960's and is still in its infancy compared to the development of the classical theory. For example, non-classical error bounds for asymptotic expansions seem not to be available up to now ...
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A preliminary account on the normal development of the imaginai discs in holometabolic Insects is made to serve as an introduction to the study of the hereditary homoeosis. Several facts and experimental data furnished specially by the students of Drosophila are brought here in searching for a more adequate explanation of this highly interesting phenomenon. The results obtained from the investigations of different homoeotic mutants are analysed in order to test Goldschmidt's theory of homoeosis. Critical examination of the basis on which this theory was elaborated are equally made. As a result from an extensive theoretical consideration of the matter and a long discussion of the most recent papers on this subject the present writer concludes that the Goldschmidt explanation of the homoeotic phenomena based on the action of diffusing substances produced by the genes, the "evocators", and on the alteration of the normal speed of maturation of the imaginai discs equally due to the activity of the genes, could not be proved and therefore should be abandoned. In the same situation is any other explanation like that of Waddington or Villee considered as fundamentally identical to that of Goldschmidt. In order to clear the problem of homoeosis in terms which seem to put the phenomenon in complete agreement with the known facts the present writer elaborated a theory first published a few years ago (1941) based entirely on the assumption that the imaginai discs are specifically determined by some kind of substances, probably of chemical nature, contained in the cytoplam of the cells entering in the consti- tution of each individual disc. These substances already present in the blastem of the egg in which they are distributed in a definite order, pass to different cells at the time the blastem is transformed into blastoderm. These substances according to their organogenic potentiality may be called antenal-substance, legsubstance, wing-substance, eye-substance, etc. The hipoderm of the embryo resulting from the multiplication of the blastoderm cells would be constituted by a series of cellular areas differing from each other in their particular organoformative capacity. Thus the hypoderm giving rise to the imaginai discs, it follows that each disc must have the same organogenic power of the hypodermal area it came from. Therefore the discs i*re determinated since their origin by substances enclosed in the cytoplasm of their cells and consequently can no longer alter their potentiality. When an antennal disc develops into a leg one can conclude that this disc in spite of its position in the body of the larva is not, properly speaking, an antennal disc but a true leg disc whose cells instead of having in their cytoplasm the antennal substance derived from the egg blastem have in its place the leg-substance. Now, if a disc produces a tarsus or an antenna or even a compound appendage partly tarsus-like, partly antenna-like, it follows tha,t both tarsal and antennal substances are present in it. The ultimate aspect of the compound structure depends upon the reaction of each kind of substance to the different causes influencing development. For instance, temperature may orient the direction of development either lowards arista or tarsus, stimulating, or opposing to the one or the other of these substances. Confering to the genes the faculty of altering the constitution of the substances containing in the cytoplasm forming the egg blastem or causing transposition of these substances from one area to another or promoting the substitution of a given substance by a different one, the hereditary homoeocis may be easily explained. However, in the opinion of the present writer cytoplasm takes the initiative in all developmental process, provoking the chromosomes to react specifically and proportionally. Accordingly, the mutations causing homoeotic phenomena may arise independently at different rime in the cytoplasm and in the chromosomes. To the part taken by the chromosomes in the manifestation of the homoeotic characters is due the mendalian ratio observed in homoeotic X normal crosses. Expression, in itself, is mainly due to the proportion of the different substances in the cells of the affected discs. Homoeotic phenomena not presenting mendelian ratio may appear as consequence of cytoplasmic mutation not accompanied by chromosomal mutation. The great variability in the morphology of the homoeotic characteres, some individual being changed towards an extreme expression of the mutant phenotype while others in spite of their homozigous constitution cannot be distinguished from the normal ones, strongly supports the interpretation based on the relative proportion of the determining substances in the discs. To the same interpretation point also asymetry and other particularities observed in the exteriorization of the phenomenon. In conformity with this new conception homoeosis should not prove homology of Insect appendages (Villee 1942) since a more replacement of substances may cause legs to develop in substitution of the wings, as it was already observed (requiring confirmation in the opinion of Bateson 1894, p. 184) and no one would conclude for the homology of these organs in the usual meaning of the term.