Environmental risk assessment in a contaminated estuary: an integrated weight of evidence approach as a decision support tool

Environmental risk assessment of complex ecosystems such as estuaries is a challenge, where innovative and integrated approaches are needed. The present work aimed at developing an innovative integrative methodology to evaluate in an impacted estuary (the Sado, in Portugal, was taken as case study), the adverse effects onto both ecosystem and human health. For the purpose, new standardized lines of evidence based on multiple quantitative data were integrated into a weight of evidence according to a best expert judgment approach. The best professional judgment for a weight of evidence approach in the present study was based on the following lines of evidence: i) human contamination pathways; ii) human health effects: chronic disease; iii) human health effects: reproductive health; iv) human health effects: health care; v) human exposure through consumption of local agriculture produce; vi) exposure to contaminated of water wells and agriculture soils; vii) contamination of the estuarine sedimentary environment (metal and organic contaminants); viii) effects on benthic organisms with commercial value; and ix) genotoxic potential of sediments. Each line of evidence was then ordinally ranked by levels of ecological or human health risk, according to a tabular decision matrix and expert judgment. Fifteen experts scored two fishing areas of the Sado estuary and a control estuarine area, in a scale of increasing environmental risk and management actions to be taken. The integrated assessment allowed concluding that the estuary should not be regarded as impacted by a specific toxicant, such as metals and organic compounds hitherto measured, but by the cumulative risk of a complex mixture of contaminants. The proven adverse effects on species with commercial value may be used to witness the environmental quality of the estuarine ecosystem. This method argues in favor of expert judgment and qualitative assessment as a decision support tool to the integrative management of estuaries. Namely it allows communicating environmental risk and proposing mitigation measures to local authorities and population under a holistic perspective as an alternative to narrow single line of evidence approaches, which is mandatory to understand cause and effect relationships in complex areas like estuaries.info:eu-repo/semantics/publishedVersio

The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients

Disease-causing alterations within the F8 gene were identified in 177 hemophilia A families of Portuguese origin. The spectrum of non-inversion F8 mutations in 101 families included 67 different alterations, namely: 36 missense, 8 nonsense and 4 splice site mutations, as well as 19 insertions/deletions. Thirty-four of these mutations are novel. Molecular modeling allowed prediction of the conformational changes introduced by selected amino acid substitutions and their correlation with the patients' phenotypes. The relatively frequent, population-specific, missense mutations together with de novo alterations can lead to significant differences in the spectrum of F8 mutations among different populationsThis study was partially supported by Fundação para a Ciência e a Tecnologia: research grant PBIC/C/SAU/1588/92 and Programa de Financiamento Plurianual do CIGM

Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language

Clinal patterns of autosomal genetic diversity within Europe have been interpreted in previous studies in terms of a Neolithic demic diffusion model for the spread of agriculture; in contrast, studies using mtDNA have traced many founding lineages to the Paleolithic and have not shown strongly clinal variation. We have used 11 human Y-chromosomal biallelic polymorphisms, defining 10 haplogroups, to analyze a sample of 3,616 Y chromosomes belonging to 47 European and circum-European populations. Patterns of geographic differentiation are highly nonrandom, and, when they are assessed using spatial autocorrelation analysis, they show significant dines for five of six haplogroups analyzed. Clines for two haplogroups, representing 45% of the chromosomes, are continentwide and consistent with the demic diffusion hypothesis. Clines for three other haplogroups each have different foci and are more regionally restricted and are likely to reflect distinct population movements, including one from north of the Black Sea. principal-components analysis suggests that populations are related primarily on the basis of geography, rather than on the basis of linguistic affinity. This is confirmed in Mantel tests, which show a strong and highly significant partial correlation between genetics and geography but a low nonsignificant partial correlation between genetics and language. Genetic-barrier analysis also indicates the primacy of geography in the shaping of patterns of variation. These patterns retain a strong signal of expansion from the Near East but also suggest that the demographic history of Europe has been complex and influenced by other major population movements, as well as by linguistic and geographic heterogeneities and the effects of drift

Chimeraplasty validation.

Comparative StudyLetterinfo:eu-repo/semantics/publishe

Single-Strand Conformation Polymorphism (SSCP) Analysis of the Molecular Pathology of Hemophilia B

In the present study, we report the application of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis to the screening of seven functionally important factor IX gene (FIX) regions (total length 2.66 kb) in 9 unrelated haemophilia B patients of Portuguese or African origin. In eight of the patients an altered migration pattern of single-stranded DNA was observed. Direct sequencing of the relevant DNA fragments unveiled the following sequence alterations: two novel mutations, namely FIXBarcelos Thr-380-Pro and FIXLousada 9bp insertion at position 31,309 or 31,318; five mutations previously reported in other ethnic groups (FIXPorto Arg-145-His, FIXLuanda Gly-207-Arg, FIXPenafiel Arg-248-Gln, FIXSesimbra Arg-333-Gln, FIXCascais Arg-333-Stop); and a normal variant, G-->T transvertion at position 6,596 in intron 2. We propose hypothetical models for the generation of the 9 bp duplication (FIXLousada). We have performed molecular modeling studies in order to predict the structure of the variant FIX molecules.info:eu-repo/semantics/publishedVersio

NORMAL DELTA-GLOBIN GENE-SEQUENCES IN SARDINIAN NONDELETIONAL DELTA-BETA-THALASSEMIA

In order to clarify the reasons for the reduced Hb A2 levels in Sardinian deltabeta-thalassemia, we characterized, both by cloning and sequence analysis and by direct sequencing of amplified DNA, the delta-globin gene from an individual of Sardinian descent who is a compound heterozygote for the beta-degrees-thalassemia codon 39 (C-->T) nonsense mutation and the Sardinian deltabeta-thalassemia [codon 39(C-->T)/-196(C-->T)Agamma]. The analysis of the delta-globin gene from the deltabeta-thalassemia chromosome revealed an entirely normal sequence. The defective function of the delta-globin gene in this determinant is thus likely related to a suppressive effect of the in cis nondeletional high persistence of fetal hemoglobin mutation of the A(gamma) gene, probably resulting from an increased capability of the relative promoter to interact with the locus control region

Phrophylaxis of the Hereditary Red Cells Disorderds

Pretende-se esclarecer a prevalência que as doenças hereditárias do eritrócito têm não só a nível mundial e europeu mas também ao nível do nosso país e consulta de hematologia pediátrica do Hospital Dona Estefânia. São realçados os aspectos que condicionam a morbilidade associada a estas doenças crónicas, quer do ponto de vista da sua própria evolução natural como da própria terapêutica instituida. São referidas atitudes consensuais do ponto de vista profilático e terapêutico adoptadas neste tipo de doenças crónicas. Assume-se o diagnóstico pós-natal como de extrema importância, possibilitando diagnosticar-se casais de risco e implementar medidas privilegiando o aconselhamento destes casais quanto à característica genética de que são portadores e pondo à sua disposição meios de diagnóstico seguros na caracterização da sua descendência antes do nascimento (daignóstico pré-natal), com base num estudo de biologia molecular. Conclui-se realçando os programas de prevenção, sem os quais se torna impossível o decréscimo da incidência destas doenças, nomeadamente nos países de forte prevalência