Doença de Wilson no sul do Brasil: correlação genotípica-fenotípica\ud e a descrição de duas novas mutações no gene ATP7B

OBJECTIVE:\ud \ud Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil.\ud \ud METHODS:\ud \ud 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed.\ud \ud RESULTS:\ud \ud Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1%) followed by the c.3402delC at exon 15 (allelic frequency=11.4%). The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time.\ud \ud CONCLUSION:\ud \ud The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.OBJETIVO:\ud \ud A doença de Wilson (DW) é um erro inato do metabolismo causado por abnormalidades no gene ATP7B, que codifica uma proteína transportadora de cobre. Neste estudo, avaliamos as mutações do gene ATP7B em um grupo de pacientes do sul do Brasil.\ud \ud MÉTODOS:\ud \ud Foram estudados 36 pacientes com DW e classificados do ponto de vista clínico e epidemiológico. Em 23 pacientes, o gene ATP7B foi analisado.\ud \ud RESULTADOS:\ud \ud A substituição c.3207C>A no éxon 14 foi a mutação mais comum seguida pela mutação c.3402delC no éxon 15 . A mutação c.2018-2030del13 no éxon 7 e a c.4093InsT no éxon 20 são relatadas pela primeira vez na literatura.\ud \ud CONCLUSÃO:\ud \ud A mutação do gene ATP7B, com a substituição c.3207C>A no éxon 14 foi a mais frequente. Esta mutação é a mais comumente encontrada em pacientes europeus

Nonwovens markets

French and Portuguese universities have been involved in an extensive study within these two countries relating a survey of the use of surgical clothing in the hospitals. National enquiries have been carried out about the use of disposable versus reusable products and concluded that private hospitals use more disposable independently of the ratio price/quality. Some results of the survey will be presented and the analysis show that a significant agreement of the consumption of these products exist in both countries

The POE as a basis for architectural programming of a university residence.

The purpose of this article is to show the use of the Post-occupation Evaluation as an instrument of the participatory design process. In the presented case, the APO made possible the collaboration of the residents of the central campus of UFRN in the architectural programming for a new university residency proposal and its influence in the preliminary project. In addition to the use of sustainability and flexibility concepts, the APO results contributed to propose of spaces that promote privacy and interaction between residents, respecting the demands and limitations of the institution, such as quick and step-by-step construction

Disentangling food-web environment relationships: A review with guidelines

Food webs represent the energy fluxes and the nutrient cycling between interacting species that underpin several ecosystem functions. Whether and how interactions vary across environmental gradients is still largely unknown. We reviewed the literature searching for systematic relationships between structural food-web properties and environmental gradients. Temperature and biotic factors are amongst the most frequently addressed drivers of food-web structure. We also assessed the degree to which food-web ecology has accomplished a mechanistic understanding of ecosystem functioning. We found that most studies are one-off descriptions of local food webs making it difficult to achieve an understanding of the response to human or environmental gradients. The lack of a consistent theory predicting how food webs change across environmental gradients, the diversity of objectives in food-web studies, and the absence of a standardized methodology for analysing them severely limit progress in the field. Moving forward requires the establishment of a core set of testable predictions, agreed standards for data collection and analysis, and the development of geographically distributed experimental studies of food-web dynamics

The marine fish food web is globally connected

The productivity of marine ecosystems and the services they provide to humans are largely dependent on complex interactions between prey and predators. These are embedded in a diverse network of trophic interactions, resulting in a cascade of events following perturbations such as species extinction. The sheer scale of oceans, however, precludes the characterization of marine feeding networks through de novo sampling. This effort ought instead to rely on a combination of extensive data and inference. Here we investigate how the distribution of trophic interactions at the global scale shapes the marine fish food web structure. We hypothesize that the heterogeneous distribution of species ranges in biogeographic regions should concentrate interactions in the warmest areas and within species groups. We find that the inferred global metaweb of marine fish—that is, all possible potential feeding links between co-occurring species—is highly connected geographically with a low degree of spatial modularity. Metrics of network structure correlate with sea surface temperature and tend to peak towards the tropics. In contrast to open-water communities, coastal food webs have greater interaction redundancy, which may confer robustness to species extinction. Our results suggest that marine ecosystems are connected yet display some resistance to perturbations because of high robustness at most locations.Using a global interaction dataset, the authors quantify the distribution of trophic interactions among marine fish, finding a high degree of geographic connectivity but low spatial modularity.C.A. was supported by a MELS-FQRNT Postdoctoral Fellowship and a Ressources Aquatique Québec (RAQ) fellowship during the conception and writing of this manuscript. T.P., D.G. and D.B.S. acknowledge financial support by the CIEE through their working group programme. M.B.A. is funded through FCT project No. PTDC/AAG-MAA/3764/2014. A.R.C. is funded by a Natural Sciences and Engineering Research Council of Canada (NSERC) PGS-D scholarship. D.G., T.P., M.-J.F., P.A. and S.J.L. are supported by NSERC Discovery Grants. T.P. also acknowledges a FRQNT New Investigator award and a Université de Montréal starting grant. D.B.S. acknowledges support from the Royal Society of New Zealand (via Marsden Fast-Start No. UOC-1101 and a Rutherford Discovery Fellowship)

Health promotion and education: a diagnosis of sanitation conditions using participatory research and community education (São João dos Queiróz, Quixadá, Ceará, Brazil)

This study was conducted in a rural community, São João dos Queiróz, a township in the county of Quixadá, Ceará, Brazil, using a combination of participatory research and community education in compliance with the health promotion reference and principles of the 1986 Ottawa Charter. The project was joined by representatives of several local government institutions and organizations from the grassroots community movement. The theme generating the research, as defined by an assembly meeting of the community association, was a diagnosis of sanitation conditions in the community. The starting point was the assessment of local conditions. Results showed adverse local conditions in sanitation, literacy, income, and employment. Suggestions for solving the problems were organized so as to be included in the planning agenda for local health policies. Evaluation was procedural and enriched with daily research activities. The problem-solving pedagogical approach developed during the educational process contributed to a critical reconstruction, appropriation, and sharing of the resulting knowledge.Este trabalho foi desenvolvido em uma comunidade rural ­ vila de São João dos Queiróz, Distrito do Município de Quixadá, Ceará, através da pesquisa participante articulada à educação popular, tendo como referencial a promoção à saúde de acordo com os princípios da Carta de Ottawa, 1986. Participaram do projeto representantes das diversas instituições públicas do distrito e entidades associativas ligadas ao movimento popular. O tema gerador, definido em assembléia da associação comunitária, foi o diagnóstico de saneamento, e o ponto de partida, o levantamento da condição situacional. Os resultados obtidos mostraram as precárias condições locais de saneamento, escolaridade, renda e trabalho. As sugestões para resoluções dos problemas foram organizadas para subsidiar a agenda de planejamento das políticas locais de saúde. A avaliação foi processual e enriquecida com práticas do cotidiano da pesquisa. A pedagogia problematizadora, desenvolvida durante o processo educativo, contribuiu para a construção e a reconstrução crítica dos conceitos de promoção à saúde e de saneamento, assim como para a efetivação da construção, apropriação e socialização dos conhecimentos produzidos

De novo transcriptome analysis of Hevea brasiliensis tissues by RNA-seq and screening for molecular markers

Abstract\ud \ud Background\ud The rubber tree, Hevea brasiliensis, is a species native to the Brazilian Amazon region and it supplies almost all the world’s natural rubber, a strategic raw material for a variety of products. One of the major challenges for developing rubber tree plantations is adapting the plant to biotic and abiotic stress. Transcriptome analysis is one of the main approaches for identifying the complete set of active genes in a cell or tissue for a specific developmental stage or physiological condition.\ud \ud \ud Results\ud Here, we report on the sequencing, assembling, annotation and screening for molecular markers from a pool of H. brasiliensis tissues. A total of 17,166 contigs were successfully annotated. Then, 2,191 Single Nucleotide Variation (SNV) and 1.397 Simple Sequence Repeat (SSR) loci were discriminated from the sequences. From 306 putative, mainly non-synonymous SNVs located in CDS sequences, 191 were checked for their ability to characterize 23 Hevea genotypes by an allele-specific amplification technology. For 172 (90%), the nucleotide variation at the predicted genomic location was confirmed, thus validating the different steps from sequencing to the in silico detection of the SNVs.\ud \ud \ud Conclusions\ud This is the first study of the H. brasiliensis transcriptome, covering a wide range of tissues and organs, leading to the production of the first developed SNP markers. This process could be amplified to a larger set of in silico detected SNVs in expressed genes in order to increase the marker density in available and future genetic maps. The results obtained in this study will contribute to the H. brasiliensis genetic breeding program focused on improving of disease resistance and latex yield.CNPqPROSULCAPESFUNDHER