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- Diagnóstico das Doenças Mitocondriais por Sequenciação de Nova GeraçãoPublication . Nogueira, Célia; Pereira, Cristina; Silva, Lisbeth; Rodrigues, Esmeralda; Janeiro, Patricia; Sequeira, Sílvia; Santos, Helena; Martins, Esmeralda; Vilarinho, Laura; Vieira, Luis; Leão Teles, Elisa; Campos, Teresa; Costa, Cláudia; Gaspar, Ana; Dupont, Juliette; Soares, Gabriela; Bandeira, Anabela; Magalhães, Marina; Vieira, José PedroIntrodução e objetivos: As doenças mitocondriais constituem um importante grupo de doenças metabólicas de expressão clínica heterogénea, para as quais não existe uma terapia eficaz. Estas patologias podem ser causadas por defeitos genéticos quer no genoma mitocondrial, quer no nuclear. A sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular destas doenças, uma vez que tem capacidade de gerar uma enorme quantidade de dados num curto espaço de tempo a um custo acessível. O objetivo deste estudo [Financiado pela FCT (PTDC/DTP-PIC/2220/2014) e pelo Norte 2020 (NORTE-01-0246-FEDER-000014)] é desenvolver uma estratégia de NGS para permitir o diagnóstico genético de doentes suspeitos de doenças mitocondriais.
- Risk Levels of Toxic Cyanobacteria in Portuguese Recreational FreshwatersPublication . Menezes, Carina; Churro, Catarina; Dias, ElsaPortuguese freshwater reservoirs are important socio-economic resources, namely for recreational use. National legislation concerning bathing waters does not include mandatory levels or guidelines for cyanobacteria and cyanotoxins. This is an issue of concern since cyanotoxin-based evidence is insufficient to change the law, and the collection of scientific evidence has been hampered by the lack of regulatory levels for cyanotoxins in bathing waters. In this work, we evaluate the profile of cyanobacteria and microcystins (MC) in eight freshwater reservoirs from the center of Portugal, used for bathing/recreation, in order to determine the risk levels concerning toxic cyanobacteria occurrence. Three of the reservoirs did not pose a risk of MC contamination. However, two reservoirs presented a high risk in 7% of the samples according to the World Health Organization (WHO) guidelines for MC in bathing waters (above 20 µg/L). In the remaining three reservoirs, the risk concerning microcystins occurrence was low. However, they exhibited recurrent blooms and persistent contamination with MC up to 4 µg/L. Thus, the risk of exposure to MC and potential acute and/or chronic health outcomes should not be disregarded in these reservoirs. These results contribute to characterize the cyanobacterial blooms profile and to map the risk of toxic cyanobacteria and microcystins occurrence in Portuguese inland waters.
- Risk Levels of Toxic Cyanobacteria in Portuguese Recreational FreshwatersPublication . Menezes, Carina; Churro, Catarina; Dias, ElsaPortuguese freshwater reservoirs are important socio-economic resources, namely for recreational use. National legislation concerning bathing waters does not include mandatory levels or guidelines for cyanobacteria and cyanotoxins. This is an issue of concern since cyanotoxin-based evidence is insufficient to change the law, and the collection of scientific evidence has been hampered by the lack of regulatory levels for cyanotoxins in bathing waters. In this work, we evaluate the profile of cyanobacteria and microcystins (MC) in eight freshwater reservoirs from the center of Portugal, used for bathing/recreation, in order to determine the risk levels concerning toxic cyanobacteria occurrence. Three of the reservoirs did not pose a risk of MC contamination. However, two reservoirs presented a high risk in 7% of the samples according to the World Health Organization (WHO) guidelines for MC in bathing waters (above 20 µg/L). In the remaining three reservoirs, the risk concerning microcystins occurrence was low. However, they exhibited recurrent blooms and persistent contamination with MC up to 4 µg/L. Thus, the risk of exposure to MC and potential acute and/or chronic health outcomes should not be disregarded in these reservoirs. These results contribute to characterize the cyanobacterial blooms profile and to map the risk of toxic cyanobacteria and microcystins occurrence in Portuguese inland waters.