24 documents found, page 1 of 3
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...
Loop diuretic discontinuation in chronic heart failure patients: A retrospectiv...
Silva, G; Moura, B; Moreira, E; Camila Dias, C; Sousa Pinto, B; Campelo, M; Amorim, S; Martins, E; Pinto, R; Maia Araújo, P; Resende, CX; Mena, BIntroduction and objectives: The use of loop diuretics is central in managing congestion in heart failure (HF), but their impact on prognosis remains unclear. In euvolemic patients, dose reduction is recommended, but there is no recommendation on their discontinuation. This study aims to assess the impact of loop diuretic discontinuation on the prognosis of outpatients with HF with reduced ejection fraction. Me...
Association of Mycobacterium avium paratuberculosis serostatus with age at firs...
Martins, E; Oliveira, P; Correia-Gomes, C; Mendonça, D; Ribeiro, JNMycobacterium avium ssp. paratuberculosis (MAP) is the causative agent of bovine paratuberculosis, also known as Johne's disease. This infection is responsible for negative effects, ranging from reduction of milk production to reproductive compromise and increased susceptibility to other diseases such as mastitis. Contradictory information on the association between this infection and reproductive performance h...
From data to insight: Exploring contaminants in different food groups with lite...
Martins, E; Ramos, H; Araújo, AM; Silva, M; Ribeiro, M; Melo, A; Mansilha, C; Viegas, Olga; Faria, A; Ferreira, MPLVOFood remains a major source of human exposure to chemical contaminants that are unintentionally present in commodities globally, despite strict regulation. Scientific literature is a valuable source of quantification data on those contaminants in various foods, but manually summarizing the information is not practicable. In this review, literature mining and machine learning techniques were applied in 72 foods ...
Therapeutic Nanoparticles for the Different Phases of Ischemic Stroke
Bernardo-Castro, S; Albino, I; Barrera-Sandoval, ÁM; Tomatis, F; Sousa, JA; Martins, E; Simões, S; Lino, MM; Ferreira, L; Sargento-Freitas, JStroke represents the second leading cause of mortality and morbidity worldwide. Ischemic strokes are the most prevalent type of stroke, and they are characterized by a series of pathological events prompted by an arterial occlusion that leads to a heterogeneous pathophysiological response through different hemodynamic phases, namely the hyperacute, acute, subacute, and chronic phases. Stroke treatment is highl...
Phenylketonuria in Portugal: Genotype–Phenotype Correlations Using Molecular, B...
Ferreira, F; Azevedo, L; Neiva, R; Sousa, C; Fonseca, H; Marcão, A; Rocha, H; Carmona, C; Ramos, S; Bandeira, A; Martins, E; Campos, T; Rodrigues, EBackground: The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can pre...
Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, B...
Ferreira, F; Azevedo, L; Neiva, R; Sousa, C; Fonseca, H; Marcão, A; Rocha, H; Carmona, C; Ramos, S; Bandeira, A; Martins, E; Campos, T; Rodrigues, EThe impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinica...
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Me...
Barbosa-Gouveia, S; Vázquez-Mosquera, ME; González-Vioque, E; Álvarez, JV; Chans, R; Laranjeira, F; Martins, E; Ferreira, AC; Avila-Alvarez, ANext-generation sequencing (NGS) technologies have been proposed as a first-line test for the diagnosis of inborn errors of metabolism (IEM), a group of genetically heterogeneous disorders with overlapping or nonspecific phenotypes. Over a 3-year period, we prospectively analyzed 311 pediatric patients with a suspected IEM using four targeted gene panels. The rate of positive diagnosis was 61.86% for intermedia...
Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience
Quelhas, D; Martins, E; Azevedo, L; Bandeira, A; Diogo, L; Garcia, P; Sequeira, S; Ferreira, AC; Teles, EL; Rodrigues, E; Fortuna, AM; Mendonça, CObjective: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years. Study design: The cohort includes patients with an unexplained multisystem or single organ involvement, with or without psychomotor disability. Serum sialotransferrin isoforms and, whenever necessary, a...
SLC35A2-CDG: Novel variant and review
Quelhas, D; Correia, J; Jaeken, J; Azevedo, L; Lopes-Marques, M; Bandeira, A; Keldermans, L; Matthijs, G; Sturiale, L; Martins, ESLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature. Among the sixty five patients described so far, a strong gender bias is observed as only seven ...