20 documents found, page 1 of 2
Impact of a Training Program for Informal Caregivers in Palliative Care
Santos, Carla; Santos, Renato; Santos, Hugo; Santos, HugoAbstract: Introduction: Population ageing and the increase in chronic and terminal illnesses elevate the need for palliative care, where informal caregivers play an essential role, often without adequate support or preparation. Objectives: To assess the impact of a training program for informal caregivers of palliative care patients, aiming to improve their practical, emotional, and relational skills, as well a...
An opinion mining methodology to analyse games for health
Silva, Paula Alexandra; Santos, RenatoDespite the positive impact of games for health on players' health, users tend to stop playing them after a short period of time, leading benefits to fade. It is therefore important to understand how to sustain interest and, in this way, preserve the health benefits of games for health. This could be achieved by continuously reviewing user feedback after product launch and using this information to inform (re)d...
Tay Sachs disease variant B1: iPSC and NGS as the basis for a cellular model
Ribeiro, Diogo; Duarte, Ana J.; Moreira, Luciana; Santos, Renato; Encarnaçao, Marisa; Silva, Lisbeth; Coutinho, M. Francisca; Alves, SandraTay Sachs disease variant B1 (TSD B1; OMIM 272800) is a neurodegenerative lysosomal storage disease (LSD) which, although rare, is the most frequent form of TSD in Portugal. The mutation p.R178H (c.533G>A; rs28941770), associated with TSD B1, leads to a mutant HexA protein with altered kinetics and reduced residual activity. The availability of disease-relevant cell types derived from induced pluripotent stem c...
Relational and sexual satisfaction during military deployment: a comparative study
Esteves, Higino; Beato, Ana; Santos, RenatoMilitary deployments in International Military Missions are a frequent reality for the Portuguese (PRT) military members. Despite the increasing number of researches on post deployment adjustment of military couples, gaps remain on studies focused on the periods of the deployment, namely during the period of physical/geographical separation. In particular, the impact of these missions in couple's adjustment on ...
Relational and sexual satisfaction during military deployment : a comparative s...
Esteves, Higino; Beato, Ana; Santos, RenatoObjective: The purpose of this cross-sectional study was to compare the investment on relationship and the satisfaction with communication, with sexuality and with relationship between a group of Portuguese Military service members during their long term deployment in International Military Missions and a group of similar soldiers that work in their home country. Design and Method: Participants in Long Distance...
Differential gene expression in cells from Fabry and Gaucher diseases: cell rep...
Amaral, Olga; Santos, Renato; Ribeiro, DiogoGene expression varies deeply, even in the same individual’s cells, depending on stress factors, cell aging, gene variants or gene and cell manipulation In this work, gene expression can be seen to shift in many genes, using fibroblasts from donors with Fabry and Gaucher type 3 genetic diseases Tests were also made to compare the impact of aging cultures Real time qRT PCR protocols for genes of interest were us...
Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient he...
Duarte, Ana; Ribeiro, Diogo; Santos, Renato; Moreira, Luciana; Bragança, José; Amaral, OlgaFabry Disease (FD) is a multisystemic X-linked disorder that belongs to the group of lysosomal storage disorders (LSDs). Causal mutations on alpha-galactosidase A (α-Gal A) commonly lead to abnormal protein and consequently to FD. Since it is an X-linked disease, males are primarily affected. This work describes the generation of induced Pluripotent Stem Cells (iPSCs) from skin fibroblasts from a FD patient, us...
Applications of iPSCs in Gaucher Disease
Amaral, Olga; duarte, ana; Ribeiro, Diogo; Santos, Renato; Bragança, JoséIn recent years, human induced pluripotent cell (hiPSC) models have slowly become a trend in experimental modelling of disease, following and complementing animal based models. Human iPSCs provide an innovative manner for modelling Gaucher Disease (GD). Since 2008 several groups have created iPSCs models from GD patients, with various genotypes, and differentiated iPSCs to neural precursors and macrophages amon...
A first step to open the neuronal box of Gaucher Cells
Ribeiro, Diogo; Duarte, Ana; Santos, Renato; Amaral, OlgaThis work focuses on the differentiation and gene expression characterization of neural progenitor cells obtained from human induced pluripotent cells (hiPSCs) reprogrammed from type 3 GD (GD3) fibroblasts. GD3 patient fibroblasts (from an international cell bank) were cultured and reprogramed as previously described (https://doi.org/10.1016/j.scr.2019.101595). The resulting hiPSCs were differentiated into pre-...
Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient he...
Duarte, Ana Joana; Ribeiro, Diogo; Santos, Renato; Moreira, Luciana; Bragança, José; Amaral, OlgaFabry Disease (FD) is a multisystemic X-linked disorder that belongs to the group of lysosomal storage disorders (LSDs). Causal mutations on alpha-galactosidase A (α-Gal A) commonly lead to abnormal protein and consequently to FD. Since it is an X-linked disease, males are primarily affected. This work describes the generation of induced Pluripotent Stem Cells (iPSCs) from skin fibroblasts from a FD patient, us...