Networking and Participatory Research Promoting Quality of Life and Well-Being in Portuguese-Speaking African Countries

Spread across the planet each human being, individually or in community, aspires for well-being and quality of life, according to the ideal of each one. However, we all believe that there are always ways to live better. For many people the measurement of a better life translates into the guarantee of social rights, the right to basic services, good land, seed and sufficient nutritious food for their community members. The Mechanism to Facilitate the Participation of Universities in the Food and Nutrition Security Council of the Community of Portuguese Speaking Countries is a cooperative academic network fomented by the Community of Portuguese Speaking Countries (CPLP) with support from the Food and Agriculture Organization of the United Nations. This mechanism works with teaching, research and extension in the CPLP Food and Nutrition Security Strategy. The pillars of CPLP Strategy are the strengthening of the governance of public policies on Food and Nutrition Security at all levels of government, social protection based on guaranteeing access to food and family farming with a strategy to increase the availability of good quality food, promoting social and environmental sustainability. CPLP University Mechanism has provided training processes for technicians who work in public policies for Food and Nutrition Security and has contributed to the strengthening of postgraduate programs in Portuguese-speaking African countries. As consequence, it has favored participatory research and mixed methods as a theoretical methodological approach. Therefore, it seeks to focus on the territories of Food and Nutrition Security practices to transform reality, as recommended by CPLP Strategy, however, with the autonomous assumptions of the collaborative network. This chapter presents how local researchers perceive the results of a process of inducing an academic network to transform the local reality and promote Food and Nutrition Security in the context of the CPLP

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype

Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5, and ABCG8), polygenic hypercholesterolemia, and hyperlipoprotein (a) [Lp(a)] can also mimic a clinical FH phenotype. We aim to present a new diagnostic tool to unravel the genetic background of clinical FH phenotype. Biochemical and genetic study was performed in 1,005 individuals with clinical diagnosis of FH, referred to the Portuguese FH Study. A next-generation sequencing panel, covering eight genes and eight SNPs to determine LDL-C polygenic risk score and LPA genetic score, was validated, and used in this study. FH was genetically confirmed in 417 index cases: 408 heterozygotes and 9 homozygotes. Cascade screening increased the identification to 1,000 FH individuals, including 11 homozygotes. FH-negative individuals (phenotype positive and genotype negative) have Lp(a) >50 mg/dl (30%), high polygenic risk score (16%), other monogenic lipid metabolism disorders (1%), and heterozygous pathogenic variants in FH-phenocopy genes (2%). Heterozygous variants of uncertain significance were identified in primary genes (12%) and phenocopy genes (7%). Overall, 42% of our cohort was genetically confirmed with FH. In the remaining individuals, other causes for high LDL-C were identified in 68%. Hyper-Lp(a) or polygenic hypercholesterolemia may be the cause of the clinical FH phenotype in almost half of FH-negative individuals. A small part has pathogenic variants in ABCG5/ABCG8 in heterozygosity that can cause hypercholesterolemia and should be further investigated. This extended next-generation sequencing panel identifies individuals with FH and FH-phenocopies, allowing to personalize each person’s treatment according to the affected pathway

Characterisation of microbial attack on archaeological bone

As part of an EU funded project to investigate the factors influencing bone preservation in the archaeological record, more than 250 bones from 41 archaeological sites in five countries spanning four climatic regions were studied for diagenetic alteration. Sites were selected to cover a range of environmental conditions and archaeological contexts. Microscopic and physical (mercury intrusion porosimetry) analyses of these bones revealed that the majority (68%) had suffered microbial attack. Furthermore, significant differences were found between animal and human bone in both the state of preservation and the type of microbial attack present. These differences in preservation might result from differences in early taphonomy of the bones. © 2003 Elsevier Science Ltd. All rights reserved