86 documents found, page 1 of 9
Protein intake and prevalence of overweight in patients with phenylketonuria: A...
Rodrigues, C; Barbosa, CS; de Almeida, MF; Bandeira, A; Martins, E; Rocha, S; Guimas, A; Ribeiro, R; Soares, A; Moreira-Rosário, A; Dias, CCBackground: Overweight has been identified as a comorbidity associated with phenylketonuria (PKU). A systematic review with meta-analysis found that although patients with PKU had a similar body mass index (BMI) when compared to non-PKU controls, there was a significantly higher BMI when measured in patients described as having classical PKU. Objective: The aim of this retrospective longitudinal study was to id...
Measuring Adherence to Inhaled Control Medication in Patients with Asthma: Comp...
Cachim, A; Pereira, AM; Almeida, R; Amaral, R; Alves‐Correia, M; Vieira‐Marques, P; Chaves‐Loureiro, C; Ribeiro, C; Cardia, F; Gomes, J; Vidal, CBackground: Previous studies have demonstrated the feasibility of using an asthma app to support medication management and adherence but failed to compare with other measures currently used in clinical practice. However, in a clinical setting, any additional adherence measurement must be evaluated in the context of both the patient and physician perspectives so that it can also help improve the process of share...
X-linked Hypophosphatemic Rickets: a New Mutation
Maio, P; Mano, L; Rocha, S; Baeta Baptista, R; Francisco, T; Sousa, H; Parente Freixo, J; Abranches, MPhosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. The authors report a clinical case of a 4-year-old girl with unremarkable family history, who presented with failure to thrive and bowing of the legs. Laboratory tests showed hypophosphatemia...
Immunophenotype of gastric tumors unveils a pleiotropic role of regulatory t ce...
Rocha, S; Basto, AP; Ijsselsteijn, ME; Teles, SP; Azevedo, MM; Gonçalves, G; Gullo, I; Almeida, GM; Maqueda, JJ; Oliveira, MI; Carneiro, F; Barata, JTGastric cancer (GC) patients display increased regulatory T cell (Tregs) numbers in peripheral blood and among tumor-infiltrating lymphocytes. Nevertheless, the role of Tregs in GC progression remains controversial. Here, we sought to explore the impact of Tregs in GCs with distinct histology, and whether Tregs can directly influence tumor cell behavior and GC develop-ment. We performed a comprehensive immunoph...
Continuous use of glycomacropeptide in the nutritional management of patients w...
Pena, MJ; Pinto, A; de Almeida, MF; Barbosa, CD; Ramos, PC; Rocha, S; Guimas, A; Ribeiro, R; Martins, E; Bandeira, A; Dias, CC; MacDonald, ABackground In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusing on the long-term nutritional status of CGMP-AA are lacking. This retrospective study evaluated the long-term impact of CGMP-AA over a mean of 29 months in 11 patients with a mean age at CGMP-...
Forecasting COVID-19 Severity by Intelligent Optical Fingerprinting of Blood Sa...
Faria, SP; Carpinteiro, C; Pinto, V; Rodrigues, SM; Alves, J; Marques, F; Lourenço, M; Santos, PH; Ramos, A; Cardoso, MJ; Guimarães, JT; Rocha, SForecasting COVID-19 disease severity is key to supporting clinical decision making and assisting resource allocation, particularly in intensive care units (ICUs). Here, we investigated the utility of time- and frequency-related features of the backscattered signal of serum patient samples to predict COVID-19 disease severity immediately after diagnosis. ICU admission was the primary outcome used to define dise...
The identification of the Rosa S-locus and implications on the evolution of the...
Vieira, J; Pimenta, J; Gomes, A; Laia, J; Rocha, S; Heitzler, P; Vieira, CPIn Rosaceae species, two gametophytic self-incompatibility (GSI) mechanisms are described, the Prunus self-recognition system and the Maleae (Malus/Pyrus/Sorbus) non-self- recognition system. In both systems the pistil component is a S-RNase gene, but from two distinct phylogenetic lineages. The pollen component, always a F-box gene(s), in the case of Prunus is a single gene, and in Maleae there are multiple ge...
Chronic Hepatitis C Treatment in HIV Co-Infection in Portugal: Results from a C...
Miranda, AC; Mendez, J; Serrão, R; Vale, F; Manata, MJ; Pinto, S; Gomes, A; Valente, C; Pacheco, P; Pazos, R; Pereira, R; Martins, A; Germano, IDirect-acting antiviral drugs (DAAs) have recently changed the paradigm of hepatitis C therapy, significantly improving treatment response rates, patient life expectancy and quality of life. In Portugal, sofosbuvir (SOF) and SOF/ledipasvir (SOF/LDV) were fully reimbursed by the National Health System since early 2015 and generalized use of interferon-free DAA based regimens became current practice. During 2016,...
A draft genome sequence of the elusive giant squid, Architeuthis dux
Fonseca, RR; Couto, A; Machado, AM; Brejova, B; Albertin, CB; Silva, F; Gardner, P; Baril, T; Hayward, A; Campos, A; Ribeiro, ÂM; Barrio-Hernandez, IBackground: The giant squid (Architeuthis dux; Steenstrup, 1857) is an enigmatic giant mollusc with a circumglobal distribution in the deep ocean, except in the high Arctic and Antarctic waters. The elusiveness of the species makes it difficult to study. Thus, having a genome assembled for this deep-sea-dwelling species will allow several pending evolutionary questions to be unlocked. Findings: We present a dra...
Portuguese Consensus on the Diagnosis and Management of Lewy Body Dementia (POR...
Monteiro, A; Velon, AG; Rodrigues, AM; Oliveira, A; Valadas, A; Nóbrega, C; Cruto, C; Neutel, D; Simões do Couto F; Morgado J; Cerejeira, J; Ruano, LLewy body dementia is a common cause of dementia leading to the progressive deterioration of cognitive function and motor skills, behavioral changes, and loss of autonomy, impairing the quality of life of patients and their families. Even though it is the second leading cause of neurodegenerative dementia, diagnosis is still challenging, due to its heterogenous clinical presentation, especially in the early sta...