Made available in DSpace on 2022-04-29T08:45:05Z (GMT). No. of bitstreams: 0 Previous issue date: 2017-06-01; Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq); Background Healthcare-associated infections (HCAIs) challenge public health in developing countries such as Brazil, which harbour social inequalities and variations in the complexity of healthcare and regional development. Aim To desc...
Objective: The main aim of the study was to evaluate the efficacy and safety profile of Nivolumab, an immune-checkpoint-inhibitor antibody, in advanced, previously treated, Non-Small Cell Lung Cancer (NSCLC) patients, in a real world setting. Methods: We performed a retrospective, multicentre data analysis of patients who were included in the Portuguese Nivolumab Expanded Access Program (EAP). Eligibility crite...
Treatment strategies such enzyme-replacement therapy and substrate reduction, among others, are available for some Lysosomal Storage Diseases, yet still with some limitations. In recent years, the RNA molecule became one of the most promising targets for therapeutic intervention and currently, a large number of RNA-based therapies are being investigated at the basic research level and in late-stage clinical tri...
Genetic therapy directed towards the correction of RNA missplicing is being investigated not only at basic research level but even in late-stage clinical trials. Many mutations that change the normal splicing pattern and lead to aberrant mRNA production have been identified in Lysosomal Storage Disorders (LSDs). The Mucopolysaccharidosis IIIC (MPS IIIC) is a LSD caused by mutations in the HGSNAT gene, encoding ...
Genetic therapy directed towards the correction of RNA missplicing is being investigated not only at basic research level but even in late-stage clinical trials. Many mutations that change the normal splicing pattern and lead to aberrant mRNA production have been identified in Lysosomal Storage Disorders (LSDs). The Mucopolysaccharidosis IIIC (MPS IIIC) is a LSD caused by mutations in the HGSNAT gene, encoding ...
Obra executada entre setembro e novembro de 2016, para a conservação e restauro da fachada do antigo Palacete Tamagnini a pedido da Sociedade Banda Republicana Marcial Nabantina. A equipa de trabalho assumiu como objetivo recuperar a fachada principal, a qual possui elementos decorativos singulares na sua platibanda, como argamassas coradas e um ornamento marcante alusivo à sociedade, sendo exemplo a lira doura...
This paper discusses anthropometric data obtained through 3D body scanner technology, aiming the dimensioning of Portuguese children's measurements for the design of clothing. The study comprises boys and girls from the Northern Region of Portugal aged between two and ten years old. The main objective of this part of the study was to evaluate the possibility of grouping children with six and seven years old in ...
Introdução: A haploinsuficiência do gene SHOX (short stature homeobox gene) é uma das causas genéticas mais frequentes de baixa estatura isolada ou familiar, cuja gravidade clínica pode ser muito variável. Caso Clinico: Os autores descrevem uma adolescente de 14 anos, com membros curtos e baixa estatura. A radiografia do punho demonstrou deformidade de Madelung. O estudo molecular revelou a deleção do gene SHOX...