7 documents found, page 1 of 1
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...
Wearable Devices for Physical Activity and Healthcare Monitoring in Elderly Peo...
Teixeira, E; Fonseca, H; Diniz-Sousa, F; Veras, L; Boppre, G; Oliveira, J; Pinto, D; Alves, AJ; Barbosa, A; Mendes, R; Marques-Aleixo, IThe availability of wearable devices (WDs) to collect biometric information and their use during activities of daily living is significantly increasing in the general population. These small electronic devices, which record fitness and health-related outcomes, have been broadly utilized in industries such as medicine, healthcare, and fitness. Since they are simple to use and progressively cheaper, they have als...
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...
Acanthosis nigricans as a clinical marker of insulin resistance among overweigh...
Videira-Silva, A; Albuquerque, C; Fonseca, HPURPOSE: Acanthosis nigricans (AN) is a hyperpigmented dermatosis associated with obesity and insulin resistance (IR). There is no consensus whether AN extension scoring offers added value to the clinical estimation of IR. In this study we aimed to assess and score AN using both a short and an extended version of the scale proposed by Burke et al. and analyze the relationships of both versions with hyperinsulin...
Systolic Time Ratio Measured by Impedance Cardiography Accurately Screens Left ...
Nazário Leão, R; Marques da Silva, P; Branco, LM; Fonseca, H; Bento, B; Alves, M; Virella, D; Palma Reis, RBACKGROUND: The use of impedance cardiography (ICG) may play a role in the assessment of cardiac effects of hypertension (HT), especially its hemodynamic features. Hypertensive heart disease involves structural changes and alterations in left ventricular geometry that end up causing systolic and/or diastolic dysfunction. The IMPEDDANS study aims to assess the usefulness of ICG for the screening of left ventricu...
Strength Gains Can Be Achieved Through An Active Lifestyle Promotion Interventi...
Martins, S; Raimundo, A; Palmeira, A; Fonseca, HIntroduction: In obesity, fat mass increase is associated with functional abil- ity impairment and maximal strength reduction. The purpose of the present study was to analyze lower limb peak torque (PT) changes after a 6-month intervention aiming active lifestyle promotion in obese adolescents. Methods: 21 adolescents (14.62 ± 1.24yr; 32.50 ± 3.64kg/m2), 16 girls, participated in this study. Baseline and 6-mont...