A patrimonialização da cidade-velha e o seu contributo para desenvolvimento local

Classificação JEL: O20, O30, Z32, Z10Esta Dissertação foi elaborada enquanto requisito parcial para a obtenção do grau de Mestre em Estudo de Desenvolvimento, Diversidades Locais e Desafios Mundiais. O objetivo desta dissertação, consiste na compreensão do contributo da nomeação da Cidade-Velha como património mundial da humanidade, e definir se a nomeação de 2009 contribuiu ou não, para o seu desenvolvimento local. Desta forma esta dissertação será delineada em três critérios fundamentais, Cidade-Velha enquanto património mundial da Humanidade, a análise do processo da patrimonialização e análise dos impactos dessa patrimonialização. O objetivo central desta pesquisa consiste em compreender quais os impactos junto da população e se, isso, levou ou não ao desenvolvimento local da comunidade, com destaque para o sector do turismo.This thesis has been prepared as a partial requirement for the degree of Master in Development study, Local Diversities and Global Challenges. The objective of this thesis consists in understanding the contribution of nomination of Cidade-Velha has world heritage site and define if this nomination (2009) has contribute for a local development. This dissertation will be delineated between three fundamental criteria: Cidade-Velha as World Heritage of Humanity, the analysis of the patrimonial process and analysis of impacts. The main objectives of this research is to understand the impacts on the population and if this change led or not the local development of community, with special attention to tourism secto

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