A cost-efficiency and health benefit approach to improve urban air quality

When ambient air quality standards established in the EU Directive 2008/50/EC are exceeded, Member States are obliged to develop and implement Air Quality Plans (AQP) to improve air quality and health. Notwithstanding the achievements in emission reductions and air quality improvement, additional efforts need to be undertaken to improve air quality in a sustainable way - i.e. through a cost-efficiency approach. This work was developed in the scope of the recently concluded MAPLIA project "Moving from Air Pollution to Local Integrated Assessment", and focuses on the definition and assessment of emission abatement measures and their associated costs, air quality and health impacts and benefits by means of air quality modelling tools, health impact functions and cost-efficiency analysis. The MAPLIA system was applied to the Grande Porto urban area (Portugal), addressing PM10 and NOx as the most important pollutants in the region. Four different measures to reduce PM10 and NOx emissions were defined and characterized in terms of emissions and implementation costs, and combined into 15 emission scenarios, simulated by the TAPM air quality modelling tool. Air pollutant concentration fields were then used to estimate health benefits in terms of avoided costs (external costs), using dose-response health impact functions. Results revealed that, among the 15 scenarios analysed, the scenario including all 4 measures lead to a total net benefit of 0.3M€·y(-1). The largest net benefit is obtained for the scenario considering the conversion of 50% of open fire places into heat recovery wood stoves. Although the implementation costs of this measure are high, the benefits outweigh the costs. Research outcomes confirm that the MAPLIA system is useful for policy decision support on air quality improvement strategies, and could be applied to other urban areas where AQP need to be implemented and monitored.

Diagnóstico molecular de cancros hereditários por sequenciação de nova geração: cancro da mama e cancro colorretal

O cancro da mama e o cancro colorretal constituem duas das principais causas de morte a nível mundial. Entre 5 a 10% destes casos estão associados a variantes germinais/hereditárias em genes de suscetibilidade para cancro. O objetivo deste trabalho consistiu em validar a utilização da sequenciação de nova geração (NGS) para identificar variantes previamente detetadas pelo método de Sanger em diversos genes de suscetibilidade para cancro da mama e colorretal. Foram sequenciadas por NGS 64 amostras de DNA de utentes com suspeita clínica de predisposição hereditária para cancro da mama ou colorretal, utilizando o painel de sequenciação TruSight Cancer e a plataforma MiSeq (Illumina). Estas amostras tinham sido previamente sequenciadas pelo método de Sanger para os genes BRCA1, BRCA2, TP53, APC, MUTYH, MLH1, MSH2 e STK11. A análise bioinformática dos resultados foi realizada com os softwares MiSeq Reporter, VariantStudio, Isaac Enrichment (Illumina) e Integrative Genomics Viewer (Broad Institute). A NGS demonstrou elevada sensibilidade e especificidade analíticas para a deteção de variantes de sequência em 8 genes de suscetibilidade para cancro colorretal e da mama, uma vez que permitiu identificar a totalidade das 412 variantes (93 únicas, incluindo 27 variantes patogénicas) previamente detetadas pelo método de Sanger. A utilização de painéis de sequenciação de genes de predisposição para cancro por NGS vem possibilitar um diagnóstico molecular mais abrangente, rápido e custo-eficiente, relativamente às metodologias convencionais.