Clinical Features, ARIX and PHOX2B Nucleotide Changes in Three Families with Congenital Superior Oblique Muscle Palsy

We analyzed nucleotide changes in 3 genes, ARIX, PHOX2B, and KIF21A, in 6 patients of 3 families with congenital superior oblique muscle palsy. Three exons of ARIX, 3 exons of PHOX2B, and exons 8, 20, and 21 of KIF21A were amplified by polymerase chain reaction from genomic DNA isolated from the peripheral blood. The DNA fragments were directly sequenced in both directions. In 2 different families, a heterozygous nucleotide change, ARIX 153G&#62;A, in the 5’-untranslated region was found in common between a father and daughter with muscle palsy and between a mother and daughter with muscle palsy (Family No. 1 and No. 3). In the other family (Family No. 2), a heterozygous 15-nucleotide deletion, PHOX2B 1124del15, resulting in loss of 5 alanine residues in the alanine repeat of the protein, was found in the daughter with muscle palsy and her father with normal traits, but was not found in the mother with muscle palsy. No KIF21A nucleotide change was found in any patients. The ARIX 153G&#62;A polymorphism might be a genetic risk factor for the development of congenital superior oblique muscle palsy.</p

Reverse pharmacological effect of loop diuretics and altered rBSC1 expression in rats with lithium nephropathy

Reverse pharmacological effect of loop diuretics and altered rBSC1 expression in rats with lithium nephropathy.BackgroundRenal urinary concentration is associated with enhanced expression of rBSC1, a rat sodium cotransporter, in the thick ascending limb of Henle. Increased expression of rBSC1 was reported recently in nephrogenic diabetes insipidus induced by lithium chloride (Li nephropathy). However, the pathophysiological implication of altered rBSC1 expression has not yet been investigated.MethodsLi nephropathy was induced in rats by an oral administration of 40 mmol lithium/kg dry food. In rats with reduced urinary osmolality to less than 300 mOsm/kg H2O, we examined the expression of rBSC1 mRNA and protein, plasma arginine vasopressin (AVP) and RNA expression of kidney-specific water channel, aquaporin-2 (AQP2), of collecting ducts. Rats with Li nephropathy were treated with furosemide (3 mg/kg body weight), which blocks the activity of rBSC1, and changes in urine concentration, plasma AVP, medullary accumulation of Li ions, and apical AQP2 expression were determined.ResultsRats with Li nephropathy showed increased rBSC1 RNA and protein expression and reduced AQP2 RNA. In these rats, furosemide, which induces dilution of urine and polyuria in normal rats, resulted in a progressive and significant rise in urine osmolality from 167 ± 11 (mean ± SD) at baseline to 450 ± 45 mOsm/kg H2O at three hours after administration, and significant oliguria. In the same rats, plasma AVP decreased significantly from 5.7 to 3.0 pg/mL. In addition, recovery of apical AQP2 expression was noted in a proportion of epithelial cells of the collecting ducts. Although Li+ in the renal medulla was slightly lower in rats with Li nephropathy treated with furosemide, statistical significance was not achieved.ConclusionsOur results suggest that dehydration or high plasma AVP results in an enhanced rBSC1 expression in Li nephropathy, and that rBSC1 expression is closely associated with the adverse effects of Li ions on collecting duct function

DELINEAMENTO AMOSTRAL EM RESERVATÓRIOS UTILIZANDO IMAGENS LANDSAT-8/OLI: UM ESTUDO DE CASO NO RESERVATÓRIO DE NOVA AVANHANDAVA (ESTADO DE SÃO PAULO, BRASIL)

O uso do sensoriamento remoto voltado para a determinação de amostras de campo é de grande valia para estudos ambientais, uma vez que as imagens de satélite apresentam atributos capazes de avaliar a variabilidade espectral da superfície da água considerando uma área extensa. Desse modo, a abordagem deste trabalho objetiva definir um método de seleção estratificada de amostras baseada na variabilidade de imagens no espectro do visível e infravermelho oriundos do sensor Landsat-8/OLI. O método conta com a utilização de dados raster que representam o desvio padrão de uma série temporal de imagens Landsat-8/OLI e em seguida a definição automática de pontos de campo apoiada na técnica de amostragem estratificada aleatória. A escolha da imagem que deu origem a seleção dos pontos foi baseada na componente de maior variabilidade espectral por meio da técnica de Principal Componente. Como resultado foram obtidos vinte pontos representativos de um total de seis classes espectralmente semelhantes

Caracterização de plantas aquáticas submersas a partir de dados de

The deployment of hydroelectric dams to formation of large artificial lakes causes several impacts in aquatic ecosystems. The uncontrolled development of aquatic plants, emerged and submerged, and algae is a reflection of environmental disequilibrium. In this sense, the goal this paper is to show the results obtained of a study using data spectroradiometry for characterization of submerged aquatic plants, in Nova Avanhandava Reservoir, Tietê River/SP. In study area was identified three species of submerged plants: Ceratophyllum sp, Egeria najas and Cabomba sp. In general, the development of these plants is intense, doing part of the plants to reach the water surface. Analyzing different environments were observed areas where there is predominance of only one species and others where there is the development of more than one. Another association type observed is between algae with one of three submerged species found. Noted it also that the Cabomba and Egeria najas are more sensitive to the competition with algae than Ceratophyllum which is the dominant species in the reservoir. In areas with predominance of emerged plants was seen the growth of submerged plants is lesser. Thus, wait it that the different environments present spectral signal itself. In this context, spectral and limnological data were collected in different environments, distributed over the reservoir. To processing the spectral data were applied techniques of noise removal and derivative analysis, to identify features specific to certain variables optically active, allowing the characterization of different environments where were found species of submerged plants.Pages: 8500-850

Análise de correlação espacial de variáveis relacionadas à colonização de macrófitas submersas

The aim of this work is to analyze the spatial correlation among pair of maps related to submerged macrophytes growth in Taquaruçu reservoir, between São Paulo and Paraná states. The study of submerged vegetation is mainly important due to its excessive proliferation, which causes ecological unbalance and economical losses to hydroelectric power plants. Three survey fields were carried out between March and April of 2010, in order to map the submerged canopy height and depth, with the hydro-acoustic technique. With these data, other spatial variables related to macrophytes growth were derived: slope, water column height, margin distance, thalweg distance, colonized neighborhood cells count and colonized neighborhood height sum. The correlation analysis was divided in two sets of pairs of maps. One set was formed by morphometric ones and the other set had the pair maps whose variables were related to vegetation, with temporal variation. The spatial correlation was evaluated using Cramers index, based on chi-square statistic, and Joint Information Uncertainty, based on entropy concept. The results showed that the most correlated variables were depth and thalweg distance. Some applications, such as modeling, require that one of the highly associated variable of the map pair is removed. In this work it is suggested that depth and thalweg distance be excluded.Pages: 4661-466

Identificação de vegetação aquática submersa em período de alta infestação e maior turbidez aplicando mapeamento por ângulo espectral em espectros de reflectância-estudo de caso

Submerged aquatic vegetation is an important component of aquatic ecosystems. Nevertheless, its unbalanced development causes environmental and economic impacts, commonly observed in modified environments as reservoirs of hydroelectric dam, in Brazil. However, the mapping of these plants is hampered by the water column over the vegetation canopy and the optically active components that scatter and absorb the radiation throughout the water column. Turbidity is a variable that indicates the presence of particulate material in the water body which contributes to the attenuation of the radiation. Thus, this work aims to identify the signal of submerged aquatic vegetation at different heights of water column on the vegetation canopy, in the period of greatest infestation and high turbidity (summer). To identify the contribution of macrophytes in the recorded signal, it was used a supervised classification approached on Spectral Angle Mapper (SAM). Several tests were made by applying the SAM in different wavelength ranges, including absorption bands in the regions from yellow to red, from the red-edge to near infrared, as well as the analyzed full spectrum (400 - 850 nm). This paper presents the results obtained in the classification of reflectance spectra using SAM to evaluate the ability to identify the presence of submerged aquatic plants in conditions of high turbidity. The results indicated a better performance of the algorithm when applied over full spectrum. The band intervals in the visible and infrared did not show good results probably due to the greater influence of turbidity.Pages: 8861-886

Signal classification of submerged aquatic vegetation based on the hemispherical-conical reflectance factor spectrum shape in the yellow and red regions

The water column overlying the submerged aquatic vegetation (SAV) canopy presents difficulties when using remote sensing images for mapping such vegetation. Inherent and apparent water optical properties and its optically active components, which are commonly present in natural waters, in addition to the water column height over the canopy, and plant characteristics are some of the factors that affect the signal from SAV mainly due to its strong energy absorption in the near-infrared. By considering these interferences, a hypothesis was developed that the vegetation signal is better conserved and less absorbed by the water column in certain intervals of the visible region of the spectrum; as a consequence, it is possible to distinguish the SAV signal. To distinguish the signal from SAV, two types of classification approaches were selected. Both of these methods consider the hemispherical-conical reflectance factor (HCRF) spectrum shape, although one type was supervised and the other one was not. The first method adopts cluster analysis and uses the parameters of the band (absorption, asymmetry, height and width) obtained by continuum removal as the input of the classification. The spectral angle mapper (SAM) was adopted as the supervised classification approach. Both approaches tested different wavelength intervals in the visible and near-infrared spectra. It was demonstrated that the 585 to 685-nm interval, corresponding to the green, yellow and red wavelength bands, offered the best results in both classification approaches. However, SAM classification showed better results relative to cluster analysis and correctly separated all spectral curves with or without SAV. Based on this research, it can be concluded that it is possible to discriminate areas with and without SAV using remote sensing. © 2013 by the authors; licensee MDPI, Basel, Switzerland

Mineração de dados espaço-temporais para reconhecimento de padrões relacionados à vegetação aquática submersa

This work presents the application of spatio-temporal visual data mining applied to submerged aquatic vegetation which may infest water bodies, a big problem in many reservoirs of Brazil. Thousands of points were acquired by hydroacoustic method in a reservoir of hydroelectric power plant within a period of five months. The aim of this work is to identify unknown patterns that are difficult of discovering only with traditional tools of Geographical Information Systems (GIS). The study area is a portion of Taquaruçu reservoir, located in Paranapanema river, near to Santo Inácio city, state of Paraná. The technique of mining used is clustering through self-organizing maps, coupled to a parallel coordinate plot (PCP), a reorderable matrix and a geographical multiple display, available in VIS-STAMP tool. The advantages of the applied method was to support user interactions at different levels, that allow to focus on detailed views of data. It was possible to identify homogeneous and heterogeneous areas in relation to dimensions space and time. The reorderable matrix highlights temporal dimension and the map matrix focuses on the spatial one. Besides, PCP represents an easy way to characterize clusters when it is necessary to deal with multivariate data. The results shows that VISSTAMP is a great approach to overview complex patterns present in the data.Pages: 4412-441