Leitores e bibliotecas na Universidade do Minho

Os Serviços de Documentação da Universidade do Minho sofreram nos últimos anos os efeitos de uma extraordinária dinâmica de crescimento da própria Universidade onde se integram: novas instalações, novas tecnologias de informação e aumento substancial do fundo documental e do número de utilizadores. Cientes de que as bibliotecas universitárias devem adoptar uma gestão centrada no utilizador e não na organização, os autores apresentam os resultados de um inquérito aos utilizadores (alunos) das bibliotecas da Universidade do Minho, promovido para recolher dados objectivos que permitissem ajustar, ainda mais, o funcionamento das bibliotecas ao perfil de interesses dos seus leitores.The Documentation Services have experienced in the last years the effects of the significant growth of Minho University: new facilities, new technologies of information, substantial increase of stocks and users. Knowing that academic libraries must adopt a user centered management, the authors present the results of an inquiry to the users (students) of Minho University libraries, that they promoted to collect data in order to adjust library performance to user needs and interests

Termos de Compromisso de Estágios de 2011 (G)

Neste arquivo contém os TCEs de 25 estagiários no perído de 20/04/2011 à 29/09/2011UFS

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