Browsing by Author "Gomes, Joana"
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- Alerta Radiológico: Repercussões do Histórico Tratamento da TuberculosePublication . Costa, Maria Inês; Gomes, Joana; Braga, José Pinheiro
- Alpha-1 Antitrypsin Deficiency: Principles of CarePublication . Rodrigues, Joana F; Mineiro, Alexandra; Reis, António; Ventura, David G; Fernandez-Llimos, Fernando; Costa, Filipa; Gomes, Joana; Silva, José Manuel; Lopes, Paulo; Cordeiro, Carlos RobaloAlpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and liver disease. There is currently no cure for alpha-1 antitrypsin deficiency. However, appropriate treatment and a high standard of clinical care can prevent patients from being seriously affected and having to undergo major medical interventions, such as organ transplantation. Beyond managing the symptoms associated with alpha-1 antitrypsin deficiency, alpha-1 proteinase inhibitor therapy is the only treatment for the condition's underlying cause. Early diagnosis is important to ensure efficient therapeutic strategies and to minimize further deterioration of lung function. alpha-1 antitrypsin deficiency is under diagnosed globally, partly because the disease has no unique presenting symptoms. This document was prepared by a Portuguese multidisciplinary group and it aims to set out comprehensive principles of care for Alpha-1 antitrypsin deficiency. These include the importance of registries, the need for clinical research, the need for consistent recommendations (regarding diagnosis, treatment and monitoring), the role of reference centres, the requirement for sustained access to treatment, diagnostic and support services, and the role of patient organizations.
- Profiling Persistent Asthma Phenotypes in Adolescents: A Longitudinal Diagnostic Evaluation from the INSPIRERS StudiesPublication . Amaral, Rita; Jácome, Cristina; Almeida, Rute; Pereira, Ana Margarida; Alves-Correia, Magna; Mendes, Sandra; Rodrigues, José Carlos Cidrais; Carvalho, Joana; Araújo, Luís; Costa, Alberto; Silva, Armandina; Teixeira, Fernanda; Ferreira-Magalhães, Manuel; Alves, Rodrigo Rodrigues; Moreira, Ana Sofia; Fernandes, Ricardo M.; Ferreira, Rosário; Pinto, Paula Leiria; Neuparth, Nuno; Bordalo, Diana; Bom, Ana Todo; Cálix, Maria José; Ferreira, Tânia; Gomes, Joana; Vidal, Carmen; Mendes, Ana; Vasconcelos, Maria João; Silva, Pedro Morais; Ferraz, José; Morête, Ana; Pinto, Claúdia Sofia; Santos, Natacha; Loureiro, Claúdia Chaves; Arrobas, Ana; Marques, Maria Luís; Lozoya, Carlos; Lopes, Cristina; Cardia, Francisca; Loureiro, Carla Chaves; Câmara, Raquel; Vieira, Inês; Silva, Sofia da; Silva, Eurico; Rodrigues, Natalina; Fonseca, João A.We aimed to identify persistent asthma phenotypes among adolescents and to evaluate longitudinally asthma-related outcomes across phenotypes. Adolescents (13-17 years) from the prospective, observational, and multicenter INSPIRERS studies, conducted in Portugal and Spain, were included (n = 162). Latent class analysis was applied to demographic, environmental, and clinical variables, collected at a baseline medical visit. Longitudinal differences in clinical variables were assessed at a 4-month follow-up telephone contact (n = 128). Three classes/phenotypes of persistent asthma were identified. Adolescents in class 1 (n = 87) were highly symptomatic at baseline and presented the highest number of unscheduled healthcare visits per month and exacerbations per month, both at baseline and follow-up. Class 2 (n = 32) was characterized by female predominance, more frequent obesity, and uncontrolled upper/lower airways symptoms at baseline. At follow-up, there was a significant increase in the proportion of controlled lower airway symptoms (p < 0.001). Class 3 (n = 43) included mostly males with controlled lower airways symptoms; at follow-up, while keeping symptom control, there was a significant increase in exacerbations/month (p = 0.015). We have identified distinct phenotypes of persistent asthma in adolescents with different patterns in longitudinal asthma-related outcomes, supporting the importance of profiling asthma phenotypes in predicting disease outcomes that might inform targeted interventions and reduce future risk.