What's new in hemochromatosis

Hereditary hemochromatosis (HHC) is an inherited disorder of iron metabolism affecting approximately 1 in 200-300 individuals of Northern European descent. Over time, the continued deposition of iron in parenchymal cells of many organs can eventually lead to diabetes mellitus, cardiomyopathy, and hepatic cirrhosis, the last of which is frequently followed by hepatocellular carcinoma. Although the complications of HHC can be devastating, its clinical management is simple and effective if the disease is identified early in its progression. The recent elucidation of the HFE gene has provided insight into the pathogenesis of HHC and provided a means for the early identification of individuals in whom HHC may develop. Two mutations have been implicated in HHC: C282Y and H63D, The former occurs in a homozygous state seen in 75-100% of patients with HHC. The high correlation of HFE to HHC has caused it to be considered as a candidate gene for population-based genetic testing for diagnosis and detection of predisposition to HHC. In addition, mechanisms of iron transport and metabolism are unfolding and are providing clues to the enigma of iron homeostasis and the pathophysiology of iron overload, (C) 2001 Lippincott Williams & Wilkins, Inc.

A genomewide search for type 2 diabetes-susceptibility genes in indigenous Australians

The prevalence of type 2 diabetes among Australian residents is 7.5%; however, prevalence rates up to six times higher have been reported for indigenous Australian communities. Epidemiological evidence implicates genetic factors in the susceptibility of indigenous Australians to type 2 diabetes and supports the hypothesis of the thrifty genotype, but, to date, the nature of the genetic predisposition is unknown. We have ascertained clinical details from a community of indigenous Australian descent in North Stradbroke Island, Queensland. In this population, the phenotype is characterized by severe insulin resistance. We have conducted a genomewide scan, at an average resolution of 10 cM, for type 2 diabetes-susceptibility genes in a large multigeneration pedigree from this community. Parametric linkage analysis undertaken using FASTLINK version 4.1p yielded a maximum two-point LOD score of +2.97 at marker D2S2345. Multipoint analysis yielded a peak LOD score of +3.9

Inferring genome trees by using a filter to eliminate phylogenetically discordant sequences and a distance matrix based on mean normalized BLASTP scores

Darwin's paradigm holds that the diversity of present-day organisms has arisen via a process of genetic descent with modification, as on a bifurcating tree. Evidence is accumulating that genes are sometimes transferred not along lineages but rather across lineages. To the extent that this is so, Darwin's paradigm can apply only imperfectly to genomes, potentially complicating or perhaps undermining attempts to reconstruct historical relationships among genomes (i.e., a genome tree). Whether most genes in a genome have arisen via treelike (vertical) descent or by lateral transfer across lineages can be tested if enough complete genome sequences are used. We define a phylogenetically discordant sequence (PDS) as an open reading frame (ORF) that exhibits patterns of similarity relationships statistically distinguishable from those of most other ORFs in the same genome. PDSs represent between 6.0 and 16.8% (mean, 10.8%) of the analyzable ORFs in the genomes of 28 bacteria, eight archaea, and one eukaryote (Saccharomyces cerevisiae). In this study we developed and assessed a distance-based approach, based on mean pairwise sequence similarity, for generating genome trees. Exclusion of PDSs improved bootstrap support for basal nodes but altered few topological features, indicating that there is little systematic bias among PDSs. Many but not all features of the genome tree from which PDSs were excluded are consistent with the 16S rRNA tree.

Distributional profiles of homologous open reading frames among bacterial phyla: implications for vertical and lateral transmission

If open reading frames (ORFs) have been transmitted primarily by vertical descent, the distributional profile of orthologues of each ORF should be congruent with the organismal tree or a subtree thereof. Distributional patterns not reconciled parsimoniously with tree-like descent and loss are prima facie evidence of lateral gene transfer. Herein, a rigorous criterion for recognizing ORF distributions is described and implemented; it does not require the inference of phylogenetic trees, nor does it assume any specific tree. Because lineage-specific differences in rates of sequence change can also generate unexpected distributional patterns, rate artefacts, were controlled for by requiring pairwise matches between ORFs to exceed a rigorous inclusion threshold, but absence of a match was assessed against a more-permissive exclusion threshold. Applying this dual-threshold criterion to cross-domain and cross-phylum distributional patterns for ORFs in 23 bacterial genomes, a relative abundance of ORFs was observed that find a match in exactly seven other bacterial phyla; 94-99% of these ORFs also find matches among the Archaea and/or Eukarya. In the larger (and some smaller) bacterial genomes, ORFs that find matches in exactly one other bacterial phylum are also relatively abundant, but fewer of these have non-bacterial homologues; most of their matches within the Bacteria are to the Proteobacteria and/or Firmicutes, which cannot be sister lineages to all bacteria. ORFs that are neither distributed universally among the Bacteria, nor necessarily shared with topologically adjacent lineages, are preferentially enriched in large bacterial genomes.

Candidatus "Scalindua brodae", spec. nov., Candidatus "Scalindua wagneri", spec. nov., two new species of anaerobic ammonium oxidizing bacteria

Anaerobic ammonium oxidation (anammox) is both a promising process in wastewater treatment and a long overlooked microbial physiology that can contribute significantly to biological nitrogen cycling in the world's oceans. Anammox is mediated by a monophyletic group of bacteria that branches deeply in the Planctomycetales. Here we describe a new genus and species of anaerobic ammonium oxidizing planctomycetes, discovered in a wastewater treatment plant (wwtp) treating landfill leachate in Pitsea, UK. The biomass from this wwtp showed high anammox activity (5.0 +/- 0.5 nmol/mg protein/min) and produced hydrazine from hydroxylamine, one of the unique features of anammox bacteria. Eight new planctomycete 16S rRNA gene sequences were present in the 16S rRNA gene clone library generated from the biomass. Four of these were affiliated to known anammox 16S rRNA gene sequences, but branched much closer to the root of the planctomycete line of descent. Fluorescence in situ hybridization (FISH) with oligonucleotide probes specific for these new sequences showed that two species (belonging to the same genus) together made up > 99% of the planctomycete population which constituted 20% of the total microbial community. The identification of these organisms as typical anammox bacteria was confirmed with electron microscopy and lipid analysis. The new species, provisionally named Candidatus Scalindua brodae and Scalindua wagneri considerably extend the biodiversity of the anammox lineage on the 16S rRNA gene level, but otherwise resemble known anammox bacteria. Simultaneously, another new species of the same genus, Candidatus Scalindua sorokinii, was detected in the water column of the Black Sea, making this genus the most widespread of all anammox bacteria described so far.

Effect of alcohol on iron storage diseases of the liver

The consumption of excess alcohol in patients with liver iron storage diseases, in particular the iron-overload disease hereditary haemochromatosis (HH), has important clinical consequences. HH, a common genetic disorder amongst people of European descent, results in a slow, progressive accumulation of excess hepatic iron. If left untreated, the condition may lead to fibrosis, cirrhosis and primary hepatocellular carcinoma. The consumption of excess alcohol remains an important cause of hepatic cirrhosis and alcohol consumption itself may lead to altered iron homeostasis. Both alcohol and iron independently have been shown to result in increased oxidative stress causing lipid peroxidation and tissue damage. Therefore, the added effects of both toxins may exacerbate the pathogenesis of disease and impose an increased risk of cirrhosis. This review discusses the concomitant effects of alcohol and iron on the pathogenesis of liver disease. We also discuss the implications of co-existent alcohol and iron in end-stage liver disease.

Prospects for whole genome linkage disequilibrium mapping in domestic dog breeds

Linkage disequilibrium (LD) mapping is commonly used as a fine mapping tool in human genome mapping and has been used with some success for initial disease gene isolation in certain isolated inbred human populations. An understanding of the population history of domestic dog breeds suggests that LID mapping could be routinely utilized in this species for initial genome-wide scans. Such an approach offers significant advantages over traditional linkage analysis. Here, we demonstrate, using canine copper toxicosis in the Bedlington terrier as the model, that LID mapping could be reasonably expected to be a useful strategy in low-resolution, genome-wide scans in pure-bred dogs. Significant LID was demonstrated over distances up to 33.3 cM. It is very unlikely, for a number of reasons discussed, that this result could be extrapolated to the rest of the genome. It is, however, consistent with the expectation given the population structure of canine breeds and, in this breed at least, with the hypothesis that it may be possible to utilize LID in a genome-wide scan. In this study, LD mapping confirmed the location of the copper toxicosis in Bedlington terrier gene (CT-BT) and was able to do so in a population that was refractory to traditional linkage analysis.

Gira Mundos : a Educação Ambiental no mito e o mito na Educação Ambiental

A Educação Ambiental constitui-se na relação entre a natureza e a cultura de modo indissociável das relações de poder e de saber. A pesquisa enreda-se na tendência da Educação Ambiental complexa, analisa os modos de fabricação das subjetividades impostas pelo discurso neocapitalista, investiga a racionalidade herdada da sociedade moderna e explora a lógica dos referenciais afrodescendentes, em específico as lógicas presentes nos Terreiros da Umbanda. Problematiza o mito na Educação Ambiental e a Educação Ambiental no mito a partir das orixalidades umbandistas. Adota a pesquisa narrativa dialogando com Tristão (2012), problematiza os processos de subjetivação a partir de Foucault (1996) e busca capturar os saberes sustentáveis da noosfera umbandista (MORIN, 2005c) influenciada por Deleuze e Guattari (1996-1997). Através das Giras, seu principal ritual, evidencia como essas lógicas são acionadas para a fabricação de novos modos de percepção da relação entre a cultura e a natureza. Contribuem, no processo de investigação para a produção dos dados, a realização de entrevistas abertas e semiestruturadas, o registro em cadernos de bordo, gravações em áudio e vídeo, fotografias e rodas de conversas em encontros com professores e alunos de uma escola pública, próxima aos Terreiros, onde problematiza os processos e mecanismos de exclusão e violência materializados em posturas discriminatórias e de negação da cultura afro-brasileira e o modo como essas experiências são partilhadas pelos professores e alunos no contexto de suas práticas. A aposta metodológica consiste em criar estratégias de narrar experiências da Educação Ambiental em espaços não formais, como os espaços dos Terreiros da Umbanda, e em espaços formais, como a escola, através das orixalidades em narrativas, na busca de zonas de confiança e na invenção de encontros mais solidários, por escutas mais sutis e híbridas, e de novos sentidos de alianças que dissolvam pontos de vistas e desestabilizem discursos do eixo dominante, como forma de exercício do pensamento para abertura de lógicas silenciadas historicamente. Conclui que lógicas complexas incluem as existências infames e obscurecidas pela lógica oficial e que lógicas complexas buscam ver os efeitos dos modos como nós próprios fomos constituídos. A fé-eco-lógica presente nas orixalidades em narrativas potencializa a desconstrução dos regimes de verdade e subverte a monocultura de lógicas.

Selection of common bean lines with high grain yield and high grain calcium and iron concentrations

Genetic improvement of common bean nutritional quality has advantages in marketing and can contribute to society as a food source. The objective of this study was to evaluate the genetic variability for grain yield, calcium and iron concentrations in grains of inbred common bean lines obtained by different breeding methods. For this, 136 F7 inbred lines were obtained using the Pedigree method and 136 F7 inbred lines were obtained using the Single-Seed Descent (SSD) method. The lines showed genetic variability for grain yield, and concentrations of calcium and iron independently of the method of advancing segregating populations. The Pedigree method allows obtaining a greater number of lines with high grain yield. Selection using the SSD method allows the identification of a larger number of lines with high concentrations of calcium and iron in grains. Weak negative correlations were found between grain yield and calcium concentration (r = -0.0994) and grain yield and iron concentration (r = -0.3926). Several lines show genetic superiority for grain yield and concentrations of calcium and iron in grains and their selection can result in new common bean cultivars with high nutritional quality.

Português L2 / L1: compreensão na leitura

Este texto resulta de um estudo que pretendia avaliar comparativamente a compreensão na leitura de alunos de ascendência africana e de alunos lusos, em final de escolaridade obrigatória, em Portugal. Para recolha e análise dos dados, aplicouse um teste de língua a um universo de 170 alunos, metade de ascendência africana e metade de ascendência lusa a frequentar escolas da periferia de Lisboa. Os resultados parecem sugerir que ambas as populações têm dificuldades ao nível desta competência. Dos resultados pode inferir-se que as condições socioeconómicas parecem ser mais importantes do que a condição linguística, no que diz respeito ao desenvolvimento da compreensão leitora.

Daytime dive characteristics from six short-finned pilot whales Globicephala macrorhynchus off Madeira Island

Six time-depth recorders attached with suction-cups were deployed in resident and transient adult short-finned pilot whales to evaluate their daytime diving characteristics in their preferred habitat area off Madeira Island. Here, data on the proportion of time spent at the surface and at different dive phases (descent, bottom and ascent), dive depths and dive rates are presented. With mean attachment durations of 2 h 31 min (SD=2 h), the whales spent a considerable amount of time at the surface (mean=76.3%, SD=18.6) and presented a low diving rate (mean=6.8 dives h‾¹, SD=6.1; considering dive as submergence deeper than 10 m). The maximum dive depth recorded in this study was 988 m, and dives deeper than 500 m, which were recorded from resident and transient whales, suggest foraging activity along their preferred habitat area. The analysis of dives deeper than 100 m shows that the percentage of time spent on descent, bottom or ascent varied between dives, with means of ~40, 30 and 30%, respectively.

Análise do comportamento angular da articulação do joelho no plano frontal em bailarinas amadoras de élite durante o demi-plié: um estudo piloto

Mestrado em Fisioterapia

Entity localization and tracking: a sensor fusion-based mechanism in WSNs

Knowing exactly where a mobile entity is and monitoring its trajectory in real-time has recently attracted a lot of interests from both academia and industrial communities, due to the large number of applications it enables, nevertheless, it is nowadays one of the most challenging problems from scientific and technological standpoints. In this work we propose a tracking system based on the fusion of position estimations provided by different sources, that are combined together to get a final estimation that aims at providing improved accuracy with respect to those generated by each system individually. In particular, exploiting the availability of a Wireless Sensor Network as an infrastructure, a mobile entity equipped with an inertial system first gets the position estimation using both a Kalman Filter and a fully distributed positioning algorithm (the Enhanced Steepest Descent, we recently proposed), then combines the results using the Simple Convex Combination algorithm. Simulation results clearly show good performance in terms of the final accuracy achieved. Finally, the proposed technique is validated against real data taken from an inertial sensor provided by THALES ITALIA.

Relevant elderly gait features for functional fitness level grouping

Locomotor tasks characterization plays an important role in trying to improve the quality of life of a growing elderly population. This paper focuses on this matter by trying to characterize the locomotion of two population groups with different functional fitness levels (high or low) while executing three different tasks-gait, stair ascent and stair descent. Features were extracted from gait data, and feature selection methods were used in order to get the set of features that allow differentiation between functional fitness level. Unsupervised learning was used to validate the sets obtained and, ultimately, indicated that it is possible to distinguish the two population groups. The sets of best discriminate features for each task are identified and thoroughly analysed. Copyright © 2014 SCITEPRESS - Science and Technology Publications. All rights reserved.

Reafirmar a Identidade cultural local: o património cultural imaterial local como recurso

Dissertação conducente à obtenção do grau de Mestre em Educação Social e Intervenção Comunitária, sob orientação do Professor Doutor Luís Manuel Costa Moreno