56 resultados para Families in Literature

em Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho"


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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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

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Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

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Momotidae (motmots) is found throughout Latin America between Mexico and northern Argentina. Given the absence of detailed studies of cranial osteology of Momotidae in the literature, this article presents a comprehensive description of the variation of the cranial osteology in all nine species of Momotidae and compares the results with published studies of other families of Coraciiformes and families in other orders. In addition, the cranial structures described are related to ecological and behavioral aspects of Momotidae. The cranial osteology of Baryphthengus ruficapillus is described in detail and compared with other species of Momotidae. The results indicate the presence in Momotidae of modified cranial structures, among which the most conspicuous are the frontal, lacrimal, squamosal, orbital, and laterosphenoid regions, as well as the palatine, upper jaw, pterygoid, and mandible. (C) 2003 Wiley-Liss, Inc.

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Layer mortality due to heat stress is an important economic loss for the producer. The aim of this study was to determine the mortality pattern of layers reared in the region of Bastos, SP, Brazil, according to external environment and bird age. Data mining technique were used based on monthly mortality records of hens in production, 135 poultry houses, from January 2004 to August 2008. The external environment was characterized according maximum and minimum temperatures, obtained monthly at the meteorological station CATI in the city of Tupa, SP, Brazil. Mortality was classified as normal (<= 1.2%) or high (> 1.2%), considering the mortality limits mentioned in literature. Data mining technique produced a decision tree with nine levels and 23 leaves, with 62.6% of overall accuracy. The hit rate for the High class was 64.1% and 59.9% for Normal class. The decision tree allowed finding a pattern in the mortality data, generating a model for estimating mortality based on the thermal environment and bird age.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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A neural approach to solve the problem defined by the economic load dispatch in power systems is presented in this paper, Systems based on artificial neural networks have high computational rates due to the use of a massive number of simple processing elements and the high degree of connectivity between these elements the ability of neural networks to realize some complex nonlinear function makes them attractive for system optimization the neural networks applyed in economic load dispatch reported in literature sometimes fail to converge towards feasible equilibrium points the internal parameters of the modified Hopfield network developed here are computed using the valid-subspace technique These parameters guarantee the network convergence to feasible quilibrium points, A solution for the economic load dispatch problem corresponds to an equilibrium point of the network. Simulation results and comparative analysis in relation to other neural approaches are presented to illustrate efficiency of the proposed approach.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Objective: To evaluate the systemic blood pressure (BP) during daytime and nighttime in children with sleep breathing disorders (SBD) and compare parameters of BP in children with diagnosis of obstructive sleep apnea syndrome (OSA) to those one with primary snoring (PS).Methods: Children, both genders, aged from 8 to 12 years, with symptoms of SBD realized an overnight polysomnography followed by a 24 h recording of ambulatory BP.Results: All subjects presented with a history of snoring 7 nights per week. Children who have apnea/hipoapnea index >= four or a apnea index >= one presented a mean BP of 93 +/- 7 mmHg and 85 +/- 9 mmHg diurnal and nocturnal respectively whereas children who have a apnea/hipoapnea < four or a apnea index < one presented 90 +/- 7 mmHg and 77 +/- 2 mmHg. Eight children out of fourteen, from OSA group, lost the physiologic nocturnal dipping of the blood pressure. Among OSA children 57% were considered non-dippers. Two (16%) have presented absence of nocturnal dipping among children with primary snoring. The possibility of OSA children loosing physiologic blood pressure dipping was 6.66 higher than the possibilities of patients from PS group.Discussion: Our results indicate that children with sleep apnea syndrome exhibit a higher 24 h blood pressure when compared with those of primary snoring in form of decreased degree of nocturnal dipping and increased levels of diastolic and mean blood pressure, according to previous studies in literature. OSA in children seems to be associated to the development of hypertension or other cardiovascular disease. (C) 2012 Elsevier B.V. All rights reserved.

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The family Loricariidae, with about 683 species, is one the largest fish families in the world. The subfamily Hypostominae was recently reviewed and is now divided in five tribes. With the main objective of contributing to a better understanding of the relationships of the members of the subfamily Hypostominae, cytogenetic analyses were conducted in seven species (three Hypostomini, three Pterygoplichthini and two Ancistrini) from Brazil and Venezuela. In Pterygoplichthini, all species show 2n = 52 chromosomes. In Hypostomini Hypostomus ancistroides has 2n = 68, H. regani 2n = 72 and Hypostomus goyazensis 2n = 72 chromosomes. In Ancistrini Ancistrus n. sp. 1 has 2n = 39/40 with a sex chromosome system of the type XX/X0, which is a novelty for neotropical fishes, and Ancistrus n. sp. 2 has 2n = 52 chromosomes. Six species have single Ag-NORs and two multiple Ag-NORs. The possible cytogenetic relationships among the species of Hypostominae are discussed.