4 documents found, page 1 of 1
Genome-wide association study identifies genetic factors that modify age at ons...
Akçimen, F; Martins, S; Liao, C; Bourassa, CV; Catoire, H; Nicholson, GA; Riess, O; Raposo, M; França, MC; Vasconcelos, J; Lima, M; Lopes-Cendes, IMachado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past studies have revealed that the length of the expansion partly explains the disease age at onset (AO) variability of MJD, which is confirmed in this study (Pearson's correlation coefficient R2 = 0.62). Using a total of 786 MJD patients from f...
Noninvasive Ventilation: Education and Training. A Narrative Analysis and an In...
Karim, H; Burns, K; Ciobanu, L; El-Khatib, M; Nicolini, A; Vargas, N; Hernández-Gilsoul, T; Skoczyński, S; Falcone, V; Arnal, JM; Bach, J; De Santo, LNoninvasive ventilation (NIV) is an increasingly used method of respiratory support. The use of NIV is expanding over the time and if properly applied, it can save patients' lives and improve long-term prognosis. However, both knowledge and skills of its proper use as life support are paramount. This systematic review aimed to assess the importance of NIV education and training. Literature search was conducted ...
Prevalence of Late-Onset Pompe Disease in Portuguese Patients with Diaphragmati...
Guimarães, MJ; Winck, JC; Conde, B; Mineiro, A; Raposo, M; Moita, J; Marinho, A; Silva, JM; Pires, N; André, S; Loureiro, CPompe disease is a rare autosomal recessive neuromuscular disorder caused by acid α-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile- and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asymptomatic, to reduced muscle strength and/or diaphragmatic paralysis. Since muscle strength loss is characteristic of several ...
Effects of active video games on metabolic and cardiovascular systems in adults...
Afonso, J; Almeida, M de; Raposo, M; Silva, N; Alves Lopes, AntónioIntroduction: In our society, the influence of technology is growing fast and its use occupies a large amount of time during the general population’s daily life, which may lead to a sedentary lifestyle. New technologies have been developed to promote physical activity, which can be named exergames or active video games. These platform games combine video games with physical activity. Objectives: Review systemat...