Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

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.

Species composition and spatial distribution of a stream fish assemblage in the east coast of Brazil: comparison of two field study methodologies

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Localization and irregular distribution of Na,K-ATPase in myelin sheath from rat sciatic nerve

Sodium, potassium adenosine triphosphatase (Na,K-ATPase) is a membrane-bound enzyme that maintains the Na+ and K+ gradients used in the nervous system for generation and transmission of bioelectricity. Recently, its activity has also been demonstrated during nerve regeneration. The present study was undertaken to investigate the ultrastructural localization and distribution of Na,K-ATPase in peripheral nerve fibers. Small blocks of the sciatic nerves of male Wistar rats weighing 250-300g were excised, divided into two groups, and incubated with and without substrate, the para-nitrophenyl phosphate (pNPP). The material was processed for transmission electron microscopy, and the ultra-thin sections were examined in a Philips CNI 100 (TM) electron microscope. The deposits of reaction product were localized mainly on the axolemma, on axoplasmic profiles, and irregularly dispersed on the myelin sheath, but not in the unmyelinated axons. In the axonal membrane, the precipitates were regularly distributed on the cytoplasmic side. These results together with published data warrant further studies for the diagnosis and treatment of neuropathies with compromised Na,K-ATPase activity. (c) 2007 Elsevier Ltd. All rights reserved.

Distribution of 45S and 5S rDNA sites in 23 species of Eleocharis (Cyperaceae)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Longitudinal distribution of Copepoda populations in the transition zone of Paranapanema River and Jurumirim Reservoir (São Paulo, Brazil) and interchange with two lateral lakes.

Longitudinal changes in composition, abundance, and distribution of copepods were studied at the transition zone of Paranapanema River-Jurumirim Reservoir (SP, Brazil). The interchange of biotic material between marginal lakes and the river system was also examined. Water samples were obtained from 6 stations along a stretch of 13 km of the Paranapanema River, from an upstream reach with high water velocity up to the river mouth into Jurumirim Reservoir. Two other sites in lateral lakes were also sampled. Nine copepod taxa were identified: 3 calanoids (Argyrodiaptomus furcatus Sars, Notodiaptomus iheringi Wright, and N. conifer Sars) and 6 cyclopoids (Eucyclops Claus, Microcyclops Claus, Mesocyclops longisetus Thiébaud, Thermocyclops decipiens Fischer, T. minutus Lowndes, and Paracyclops Claus). Harpacticoids were also collected. Calanoid and cyclopoid nauplii and copepodids, and harpacticoids were the most abundant organisms. In general, there was a longitudinal decrease in copepod abundance, whereas an increase was detected near the lakes. The abundance of most copepods was inversely correlated with current velocity and suspended solids. Higher abundance was observed in the river main course during the rainy season, during which there is a higher connectivity between the lakes and the main river. This promotes exportation of biologic material from marginal lakes to the river system, a biotic exchange reflecting the importance of marginal lakes to the river community structure.

Optimized allocation of sectionalizing switches and control and protection devices for reliability indices improvement in distribution systems

Reliability of power supply is related, among other factors, to the control and protection devices allocation in feeders of distribution systems. In this way, optimized allocation of sectionalizing switches and protection devices in strategic points of distribution circuits, improves the quality of power supply and the system reliability indices. In this work, it is presented a mixed integer non-linear programming (MINLP) model, with real and binary variables, for the sectionalizing switches and protection devices allocation problem, in strategic sectors, aimed at improving reliability indices, increasing the utilities billing and fulfilling exigencies of regulatory agencies for the power supply. Optimized allocation of protection devices and switches for restoration, allows that those faulted sectors of the system can be isolated and repaired, re-managing loads of the analyzed feeder into the set of neighbor feeders. Proposed solution technique is a Genetic Algorithm (GA) developed exploiting the physical characteristics of the problem. Results obtained through simulations for a real-life circuit, are presented. © 2004 IEEE.

Network reconfiguration and loss allocation for distribution systems with distributed generation

Distribution systems with distributed generation require new analysis methods since networks are not longer passive. Two of the main problems in this new scenario are the network reconfiguration and the loss allocation. This work presents a distribution systems graphic simulator, developed with reconfiguration functions and a special focus on loss allocation, both considering the presence of distributed generation. This simulator uses a fast and robust power flow algorithm based on the current summation backward-forward technique. Reconfiguration problem is solved through a heuristic methodology and the losses allocation function, based on the Zbus method, is presented as an attached result for each obtained configuration. Results are presented and discussed, remarking the easiness of analysis through the graphic simulator as an excellent tool for planning and operation engineers, and very useful for training. © 2004 IEEE.

Proposals for improvement of methodology and process of collecting and analyzing compatibility of power quality indicators in distribution systems

This article aims to present proposals for improvement of key standards and resolutions concerned about the methodology for calculating the indicator of total harmonic voltage distortion, and should contribute to the process of examining the compatibility of potentially disturbing loads in electric power quality in distribution systems. These proposals were drawn from the analysis of results from measurement campaigns conducted in a case study including analysis of the connection of a new induction furnace in a foundry served by a distributor of São Paulo state. A general historical situating the quality of electric energy in the electricity sector is presented, and methodological guidelines and procedures used in experimental trials are shown. The analysis and discussion of results are prepared to answer the main questions that arise during the implementation of standards, resolutions and procedures. © 2011 IEEE.

Changes in the distribution of income and the New Economic Model in Colombia

Includes bibliography

A proposal for reliability evaluation of components on electric power distribution system integrating probabilistic models and fuzzy inference systems

The system reliability depends on the reliability of its components itself. Therefore, it is necessary a methodology capable of inferring the state of functionality of these components to establish reliable indices of quality. Allocation models for maintenance and protective devices, among others, have been used in order to improve the quality and availability of services on electric power distribution systems. This paper proposes a methodology for assessing the reliability of distribution system components in an integrated way, using probabilistic models and fuzzy inference systems to infer about the operation probability of each component. © 2012 IEEE.

Bilevel approach for optimal location and contract pricing of distributed generation in radial distribution systems using mixed-integer linear programming

In this study, a novel approach for the optimal location and contract pricing of distributed generation (DG) is presented. Such an approach is designed for a market environment in which the distribution company (DisCo) can buy energy either from the wholesale energy market or from the DG units within its network. The location and contract pricing of DG is determined by the interaction between the DisCo and the owner of the distributed generators. The DisCo intends to minimise the payments incurred in meeting the expected demand, whereas the owner of the DG intends to maximise the profits obtained from the energy sold to the DisCo. This two-agent relationship is modelled in a bilevel scheme. The upper-level optimisation is for determining the allocation and contract prices of the DG units, whereas the lower-level optimisation is for modelling the reaction of the DisCo. The bilevel programming problem is turned into an equivalent single-level mixed-integer linear optimisation problem using duality properties, which is then solved using commercially available software. Results show the robustness and efficiency of the proposed model compared with other existing models. As regards to contract pricing, the proposed approach allowed to find better solutions than those reported in previous works. © The Institution of Engineering and Technology 2013.

Entomological surveillance, spatial distribution, and diversity of culicidae (diptera) immatures in a rural area of the atlantic forest biome, state of sao paulo, brazil

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Distribution, management and diversity of yam local varieties in Brazil: a study on Dioscorea alata L.

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

Diversity, natural history, and geographic distribution of snakes in the Caatinga, Northeastern Brazil

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

Distribution, composition and seasonality of aquatic birds in the Nhecolandia sub-region of South Pantanal, Brazil

Despite remarkable significance of Pantanal for the conservation of aquatic birds, the status of their populations, the spatiotemporal patterns of distribution and habitat use and structure of communities are little known. Thus, we studied three aquatic environments (Negro river, bays and salines) from 2007 to 2009 in the Nhecolandia Pantanal to verify the distribution and composition of aquatic birds and also if there is significant seasonal influence on these aspects. We adopted the transect method (288 hours of sampling) and recorded 135 species (7.834 individuals). The Negro river showed the highest diversity, while the salines the lowest. The similarity of aquatic bird communities was higher between bays and salines, followed by Negro river and bays and lower between salines and Negro river. The equidistribution is more variable in the salines and more stable in the Negro river. The environments strongly differ from each other in aquatic bird composition in space (habitat use and distribution) and time (seasonal water fluctuations). The diversity of bird community in the dry season varies significantly in the salines, followed by the bays and more stable in the Negro river. The Negro river, regardless of large annual amplitude of flow, is more seasonally stable since its riparian vegetation is continuous (not isolated) and constant. These aspects provide better conditions to stay all year, contributing to decrease the seasonal nomadic tendencies of aquatic birds. Finally, all these data provide strong arguments to the preservation of all phytophysiognomies in the Nhecolandia sub-region of Pantanal, but with special attention to the salines widely used by many flocks of aquatic birds (mainly in the dry season) and migrant and/or rare species restricted to this habitat.