7 documents found, page 1 of 1
Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency
Conde, B; Costa, F; Gomes, J; Lopes, AP; Mineiro, A; Rodrigues, O; Santos, C; Semedo, L; Sucena, M; Guimarães, CAlpha 1-antitrypsin deficiency is an inherited autosomal codominant disorder, which predisposes patients to lung and/or liver disease. Even though it is considered rare, it is one of the most frequent genetic disorders worldwide, albeit remaining underdiagnosed. Several organizations and societies, including the Portuguese Society of Pulmonology have been elaborating guidelines and recommendations for the diagn...
Upper Airway Video Endoscopy: Assessment of the response to positive pressure v...
Conde, B; Martins, N; Brandão, M; Pimenta, AC; Winck, JCUpper airways (UA) include the nasal cavities, pharynx, and larynx, and its main function is to warm and filter the inspired air. UA dysfunction is in the pathogenesis of various disorders, such as obstructive sleep apnea syndrome (OSAS) and vocal cord dysfunction. In addition, in some neurodegenerative diseases (e.g. Amyotrophic Lateral Sclerosis – ALS), UA dysfunction may also compromise the effective use of ...
COPD and Cardiovascular Disease
André, S; Conde, B; Fragoso, E; Boléo-Tomé, JP; Areias, V; Cardoso, JCOPD is one of the major public health problems in people aged 40 years or above. It is currently the 4th leading cause of death in the world and projected to be the 3rd leading cause of death by 2020. COPD and cardiac comorbidities are frequently associated. They share common risk factors, pathophysiological processes, signs and symptoms, and act synergistically as negative prognostic factors. Cardiac disease ...
COPD and Cardiovascular Disease.
André, S; Conde, B; Fragoso, E; Boléo-Tomé, JP; Areias, V; Cardoso, J; GI DPOC-Grupo de Interesse na Doença Pulmonar Obstrutiva CrónicaCOPD is one of the major public health problems in people aged 40 years or above. It is currently the 4th leading cause of death in the world and projected to be the 3rd leading cause of death by 2020. COPD and cardiac comorbidities are frequently associated. They share common risk factors, pathophysiological processes, signs and symptoms, and act synergistically as negative prognostic factors. Cardiac disease ...
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency
Lopes, A; Mineiro, M; Costa, F; Gomes, J; Santos, C; Antunes, C; Maia, D; Melo, R; Canotilho, M; Magalhães, E; Vicente, I; Valente, C; Gonçalves, BAlpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in re...
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 ...
Body mass index and airway hyper-responsiveness in individuals without respirat...
Machado, D; Tavares, B; Loureiro, G; Conde, B; Cemlyn-Jones, J; Calado, G; Sousa, N; Chieira, C; Pereira, CBACKGROUND: Overweight and obesity are major health issues in Western societies. They are related with a higher risk of different co-morbidities but their relationship with airway hyperresponsiveness (AHR) is still under discussion. Nevertheless, they are related to higher severity in asthma and other respiratory diseases. The aim of the study was to analyze the AHR in individuals with normal lung function with...