Characterization of a rare analphoid supernumerary marker chromosome in mosaic

Abstract publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6Analphoid supernumerary marker chromosomes (SMCs) are a rare subclass of SMCs C-band-negative and devoid of alpha-satellite DNA. These marker chromosomes cannot be identified unambiguously by conventional banding techniques alone being necessary to apply molecular cytogenetic methods in favour of a detailed characterization. In this work we report an analphoid SMC involving the terminal long arm of chromosome 7, in 9 years-old boy with several dysmorphic features and severe development delay. Cytogenetic analysis revealed a mosaic karyotype with the presence of an extra SMC, de novo, in 20 % of lymphocytes and 73 % of fibroblast cells. FISH analysis with alpha-satellite probes for all chromosomes, whole chromosome painting probe for chromosome 7, and D7S427 and TelVysion 7q probes, allowed establishing the origin of the SMC as an analphoidmarker resulting of an invdup rearrangement of 7q36-qter region. Affimetrix CytoScan HD microarray analysis, redefined the SMC to arr[hg19] 7q35(143696249-159119707)×2~3, which correspond to a gain of 15.42 Mb and encloses 67 OMIM genes, 16 of which are associated to disease. This result, combined with detailed clinical description, will provide an important means for better genotype-phenotype correlation and a more suitable genetic counselling to the patient and his parents, despite the additional difficulty resulting from being a mosaic (expression varies in different tissues). Analphoid SMCs derived from chromosome 7 are very rare, with only three cases reported so far. With this case we hope contribute to a better understanding of this type of chromosome rearrangements which are difficult for genetic counselling

Reforço de edifícios existentes de betão armado com contraventamentos metálicos

Foi calibrado um modelo numérico refinado para a reprodução do comportamento de estruturas existentes de betão armado, e do seu reforço por contraventamento, face a solicitações sísmicas. Estes modelos foram calibrados com base numa série de ensaios

Ecologic correlations of selected food groups with disease incidence and mortality in Switzerland.

Background: There is little information regarding the impact of diet on disease incidence and mortality in Switzerland. We assessed ecologic correlations between food availability and disease.Methods: In this ecologic study for the period 1970-2009, food availability was measured using the food balance sheets of the Food and Agriculture Organization of the United Nations. Standardized mortality rates (SMRs) were obtained from the Swiss Federal Office of Statistics. Cancer incidence data were obtained from the World Health Organization Health For All database and the Vaud Cancer Registry. Associations between food availability and mortality/incidence were assessed at lags 0, 5, 10, and 15 years by multivariate regression adjusted for total caloric intake.Results: Alcoholic beverages and fruit availability were positively associated, and fish availability was inversely associated, with SMRs for cardiovascular diseases. Animal products, meat, and animal fats were positively associated with the SMR for ischemic heart disease only. For cancer, the results of analysis using SMRs and incidence rates were contradictory. Alcoholic beverages and fruits were positively associated with SMRs for all cancer but inversely associated with all-cancer incidence rates. Similar findings were obtained for all other foods except vegetables, which were weakly inversely associated with SMRs and incidence rates. Use of a 15-year lag reversed the associations with animal and vegetal products, weakened the association with alcohol and fruits, and strengthened the association with fish.Conclusions: Ecologic associations between food availability and disease vary considerably on the basis of whether mortality or incidence rates are used in the analysis. Great care is thus necessary when interpreting our results

How does economic crisis impact on family vacations?

PURPOSE: This study aims at improving the understanding of the behavior of Portuguese consumers regarding vacations in a severe recessionary context, as well as providing knowledge contributing to the consumer behavior field of research as far as the hospitality industry is concerned. DESIGN: Having that purpose in mind, a quantitative study was conducted using data gathered by questionnaire involving a sample of 450 respondents. Results of the quantitative analysis were further complemented with the information previously collected using Netnography. FINDINGS: The overall analysis suggests that the impact of the crisis on the household financial situation throughout the last couple of years influences decisions towards family vacations. When referring to attitudes toward money and expenses, the perception consumers have of how much their purchase and consumption behavior was affected by the crisis has a clear impact to the maximum amount spent on holidays, travel and tourism by the household. Indeed, nowadays customers better ponder every purchase they make, and they often imagine what they would do if they had more money – and, specifically, regarding tourism products. PRACTICAL IMPLICATIONS: There is evidence of a significant relationship between the change in holiday plans and how much the household was affected by the crisis. Also, it is important to note that the main sources of information chosen by customers to base their decisions regarding changing holiday’s plans reflects their change in behavior, since the cheapest strategies to communicate and gather information are the ones most used: e-word of mouth and digital platforms.info:eu-repo/semantics/acceptedVersio

Applicability of ecological evaluation tools in estuarine ecosystems: the case of the lower Mondego estuary (Portugal)

Abstract In accordance with the Water Framework Directive guidelines (WFD, 2000, European Communities Official Journal L327 2000/60/EC), classification schemes and ecological evaluation tools (based on benthic invertebrate fauna data sets from 1990 to 2002) were applied in the lower Mondego estuary. Two distinct scenarios could be tested due to the implementation of mitigation practices in 1999, following a long eutrophication process, which started by the early 1980s. Some discrepancies in the results were found by the application of the different indices. The AMBI index (accounting for taxonomic composition) and the ABC method (accounting for abundance and biomass k-dominance patterns) classifications often disagreed with those based on species diversity (Margalef and Shannon-Wiener). The ambiguous results made the classification a complex task to achieve, contrary to the Directive’s objective of maintaining it simple and clear. Our results suggest the necessity of adjusting some of the indices and their ranges to estuarine characteristics, namely to account the typical dominance and abundance of some particular species. These aspects are not taken into consideration by some of the indices proposed, which are more adapted to typical marine conditions. Based on our results, these widely applied indices might still improve their efficiency in estuarine systems allowing their use in the resembling types already established within the new Directive agenda

Programa de melhoramento genético de búfalos da Embrapa Amazônia Oriental.

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Intrahepatic Clear Cell Cholangiocarcinoma - An Uncommon Histologic Subtype: Case Report and Literature Review

Clear-cell cholangiocarcinoma is a very uncommon variant of cholangiocarcinoma with a largely unknown natural history and prognosis. We report a case of a 51-year-old previously healthy woman presenting with a large liver nodule found on routine imaging. Needle biopsy of the lesion suggested a non-hepatocellular carcinoma. After extensive workup for other primary neoplasms, the patient underwent a partial hepatectomy. Histopathology was compatible with a moderately differentiated clear-cell cholangiocarcinoma. There was no evidence of liver disease in the remaining tissue. The patient underwent chemotherapy and remains in clinical remission after two years.info:eu-repo/semantics/publishedVersio