Browsing by Issue Date, starting with "2019-07-25"
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- Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosisPublication . Tavares, Isabel; Silvano, José; Moreira, Luciana; Oliveira, Márcia E.; Silva, Roberto; Sampaio, Susana; Costa, Paulo Pinho; Lobato, LuísaIntroduction: Fibrinogen Aa chain (AFib) amyloidosis is an autosomal dominant disease that typically presents with predominant renal involvement and has a predictable progressive clinical course [1]. The p.Glu545Val AFib gene (FGA) mutation is at the origin of all AFib amyloidosis cases (AFibE526V [p.Glu545Val]) that have been identified in Portugal so far, and accounts for the disease in 17 families. Current treatment of AFib amyloidosis comprises both supportive measures and disease-modifying approaches, such as liver transplantation [2,3]. Renal transplantation (RTx) is a supportive therapy with risk of premature graft loss due to amyloid recurrence or other unexpected complications related to progression of extrarenal amyloid deposition. The aim of this study was to evaluate the outcome of Portuguese patients with AFibE526V (p.Glu545Val) amyloidosis after RTx.
- RNA Therapeutics: How Far Have We Gone?Publication . Coutinho, Maria Francisca; Matos, Liliana; Santos, Juliana Inês; Alves, SandraIn recent years, the RNA molecule became one of the most promising targets for therapeutic intervention. Currently, a large number of RNA-based therapeutics are being investigated both at the basic research level and in late-stage clinical trials. Some of them are even already approved for treatment. RNA-based approaches can act at pre-mRNA level (by splicing modulation/correction using antisense oligonucleotides or U1snRNA vectors), at mRNA level (inhibiting gene expression by siRNAs and antisense oligonucleotides) or at DNA level (by editing mutated sequences through the use of CRISPR/Cas). Other RNA approaches include the delivery of in vitro transcribed (IVT) mRNA or the use of oligonucleotides aptamers. Here we review these approaches and their translation into clinics trying to give a brief overview also on the difficulties to its application as well as the research that is being done to overcome them.
- Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variantPublication . Tavares, Isabel; Oliveira, Márcia E.; Maia, Nuno; Moreira, Luciana; Castro Lacerda, Pedro; Santos, Josefina; Santos, Rosário; Pinho Costa, Paulo; Lobato, LuísaBackground: Fibrinogen A alpha-chain (AFib) amyloidosis is an autosomal dominant disease with an endemic foci in the district of Braga, northern Portugal [1]. Among the 16 amyloidogenic mutations identified in the fibrinogen A alpha-chain gene (FGA) [2,3], the c.1634A > T (p.Glu545Val) mutation (rs121909612) is the most common and, so far, the only one identified in Portugal. A first study using three common polymorphisms showed a single haplotype, associated with the FGA p.Glu545Val mutation in Irish–American and Polish–Canadian kindreds [4]. However, the origin of this amyloidogenic variant in diverse regions and its migration in the different populations are still unclear. Therefore, we proceeded to a preliminary study using two FGA haplotype markers in newly identified Portuguese and Brazilian carriers to investigate the possibility of a common ancestor.
- Food composition at present: new challengesPublication . Kapsokefalou, M.; Roe, M.; Turrini, A.; Costa, H.S.; Martinez-Victoria, E.; Marletta, L.; Berry, R.; Finglas, P.Food composition data is important for stakeholders and users active in the areas of food, nutrition and health. Newchallenges related to the quality of food composition data reflect the dynamic changes in these areas while the emerging technologies create new opportunities. These challenges and the impact on food composition data for the Mediterranean region were reviewed during the NUTRIMAD 2018 congress of the Spanish Society for Community Nutrition. Data harmonization and standardization, data compilation and use, thesauri, food classification and description, and data exchange are some of the areas that require new approaches. Consistency in documentation, linking of information between datasets, food matching and capturing portion size information suggest the need for new automated tools. Research Infrastructures bring together key data and services. The delivery of sustainable networks and Research Infrastructures in food, nutrition and health will help to increase access to and effective use of food composition data. EuroFIR AISBL coordinates experts and national compilers and contributes to worldwide efforts aiming to produce and maintain high quality data and tools. A Mediterranean Network that shares high quality food composition data is vital for the development of ambitious common research and policy initiatives in support of the Mediterranean Diet.
- National Institute of Health Dr. Ricardo Jorge, I.P.Publication . Albuquerque, T.G.; Costa, H.S.National Institute of Health Dr. Ricardo Jorge - To contribute to public health gains through: Research activities; Technological development activities; Laboratory activity reference; Observation of health; Epidemiological surveillance; Coordination of external evaluation of laboratory quality; Dissemination of scientific culture; Training; Insurance on the provision of differentiated services in these areas.
- Networks of mRNA Processing and Alternative Splicing Regulation in Health and DiseasePublication . Jordan, Peter; Gonçalves, Vânia; Fernandes, Sara; Marques, Tânia; Pereira, Marcelo; Gama-Carvalho, MargaridamRNA processing events introduce an intricate layer of complexity into gene expression processes, supporting a tremendous level of diversification of the genome's coding and regulatory potential, particularly in vertebrate species. The recent development of massive parallel sequencing methods and their adaptation to the identification and quantification of different RNA species and the dynamics of mRNA metabolism and processing has generated an unprecedented view over the regulatory networks that are established at this level, which contribute to sustain developmental, tissue specific or disease specific gene expression programs. In this chapter, we provide an overview of the recent evolution of transcriptome profiling methods and the surprising insights that have emerged in recent years regarding distinct mRNA processing events - from the 5' end to the 3' end of the molecule.
- Spotlight on the future of environmental and occupational health researchPublication . Madureira, Joana; Costa, Solange; Teixeira, João Paulo; Costa, CarlaNo abstract available.