74 documents found, page 1 of 8
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...
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...
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...
Dyslipidemia secondary to hypothyroidism and cholestasis
Saavedra, A; Rodrigues, E; Carvalho, DIn about 28% of patients, dyslipidemia has a secondary cause. Many times, the treatment of these causes can lead to the total correction of dyslipidemia. We describe the case of a 50-year-old female patient with class II obesity and primary biliary cirrhosis, evaluated for mixed dyslipidemia with poor control (statins and fibrates were being administered) as well as abnormal liver tests. The investigation carri...
Practical Guide for the Use of PCSK9 Inhibitors in Portugal
Fontes-Carvalho, R; Marques da Silva, P; Rodrigues, E; Araújo, F; Gavina, C; Ferreira, J; Morais, JReducing low-density lipoprotein cholesterol (LDL-C) levels is one of the most important strategies for reducing the risk of cardiovascular events. However, in clinical practice, a high proportion of patients do not achieve recommended LDL-C levels through lifestyle and lipid-lowering therapy with statins and ezetimibe. PCSK9 inhibitors (PCSK9i) are a new therapeutic option that significantly (50-60%) reduces L...
Lipid antigen presentation by CD1b and CD1d in lysosomal storage disease patients
Pereira, CS; Perez-Cabezas, B; Ribeiro, H; Maia, M; Cardoso, M; Dias, AF; Azevedo, O; Ferreira, M; Garcia, P; Rodrigues, E; Castro-Chaves, P; Martins, EThe lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases (LSD), the impact of lysosomal engorgement in human lipid antigen presentation is poorly characterized. Here, we analyzed the capacity of monocyte-derived dendriti...
High-risk features in potentially resectable colon cancer: a prospective MDCT-p...
Santiago, I; Rodrigues, E; Germano, A; Costa, A; Manso, RT; Gomes, A; Leichsenring, C; Geraldes, VNeoadjuvant chemotherapy in potentially resectable high-risk Stage II and Stage III colon cancer has demonstrated promising results in the PRODIGE 22-ECKINOXE Phase II trial. Identification of adverse morphologic features, namely T3 with >5 mm extramural extension/T4 stages and/or N2, is fundamental and requires accurate noninvasive imaging. Our aim was to assess the value of optimized preoperative MDCT to stra...
Deaths resulting from the use of firearms by police against motor vehicles: Stu...
Rodrigues, E; Faria, P; Santos, A; Fraga, SThe objective of this study was to investigate the terminal ballistics of police shootings in which the bullets went through any motor vehicle structure before fatally wounding the occupants. 6 cases that occurred in Porto district between 1998 and 2013 were studied. The firearms used were 7.65 mm (n = 1) or 9 mm (n = 3) calibre semi-automatic pistols and 9 mm calibre submachine guns (n = 2); the bullets were f...
Estimation of the collective ionizing dose in the Portuguese population for the...
Costa, F; Teles, P; Nogueira, A; Barreto, A; Santos, A I; Carvalho, A; Martins, B; Oliveira, C; Gaspar, C; Barros, C; Neves, D; Costa, D; Rodrigues, EIn 2009-2010 a Portuguese consortium was created to implement the methodologies proposed by the Dose Datamed II (DDM2) project, aiming to collect data from diagnostic X-ray and nuclear medicine (NM) procedures, in order to determine the most frequently prescribed exams and the associated ionizing radiation doses for the Portuguese population. The current study is the continuation of this work, although it focus...