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- The Portuguese Severe Asthma Registry: Development, Features, and Data Sharing PoliciesPublication . Sá-Sousa, A; Fonseca, JA; Pereira, AM; Ferreira, A; Arrobas, A; Mendes, A; Drummond, M; Videira, W; Costa, T; Farinha, P; Soares, J; Rocha, P; Todo-Bom, A; Sokolova, A; Costa, A; Fernandes, B; Chaves Loureiro, C; Longo, C; Pardal, C; Costa, C; Cruz, C; Loureiro, CC; Lopes, C; Mesquita, D; Faria, E; Magalhães, E; Menezes, F; Todo-Bom, F; Carvalho, F; Regateiro, FS; Falcão, H; Fernandes, I; Gaspar-Marques, J; Viana, J; Ferreira, J; Silva, JM; Simão, L; Almeida, L; Fernandes, L; Ferreira, L; van Zeller, M; Quaresma, M; Castanho, M; André, N; Cortesão, N; Leiria-Pinto, P; Pinto, P; Rosa, P; Carreiro-Martins, P; Gerardo, R; Silva, R; Lucas, S; Almeida, T; Calvo, TThe Portuguese Severe Asthma Registry (Registo de Asma Grave Portugal, RAG) was developed by an open collaborative network of asthma specialists. RAG collects data from adults and pediatric severe asthma patients that despite treatment optimization and adequate management of comorbidities require step 4/5 treatment according to GINA recommendations. In this paper, we describe the development and implementation of RAG, its features, and data sharing policies. The contents and structure of RAG were defined in a multistep consensus process. A pilot version was pretested and iteratively improved. The selection of data elements for RAG considered other severe asthma registries, aiming at characterizing the patient's clinical status whilst avoiding overloading the standard workflow of the clinical appointment. Features of RAG include automatic assessment of eligibility, easy data input, and exportable data in natural language that can be pasted directly in patients' electronic health record and security features to enable data sharing (among researchers and with other international databases) without compromising patients' confidentiality. RAG is a national web-based disease registry of severe asthma patients, available at asmagrave.pt. It allows prospective clinical data collection, promotes standardized care and collaborative clinical research, and may contribute to inform evidence-based healthcare policies for severe asthma.
- Epworth Sleepiness Scale in obstructive sleep apnea syndrome--an underestimated subjective scalePublication . Guimarães, C; Martins, MV; Vaz Rodrigues, L; Teixeira, F; Moutinho Dos Santos, JExcessive daytime sleepiness is a major symptom in obstructive sleep apnea syndrome (OSAS) and can be evaluated using both subjective and objective methods. The Epworth Sleepiness Scale (ESS) is a simple and validated questionnaire for assessing subjective daytime sleepiness in the context of sleep disorders. Although its subjective character may limit the accurate expression of daytime sleepiness, the clinical benefit of sequential ESS is clear and demonstrates how ESS scores evolve in individual patients and how these scores may relate to various parameters. In this context we compared the severity of daytime sleepiness reported at baseline visit with severity of baseline sleepiness assessed, retrospectively, after treatment with automatic positive airway pressure (APAP). We conducted a prospective study that included 66 patients evaluated in a sleep clinic diagnosed with OSAS. The diagnosis was confirmed by in-laboratory or portable sleep studies. Their mean age was 53.3 years and the majority were men (88%, n=58). The ESS was answered during the first interview (baseline daytime sleepiness). During follow-up visits, after APAP treatment, the patient was asked to assess baseline sleepiness, retrospectively, as well as post-treatment sleepiness. The mean baseline ESS score was 11.8, mean retrospective baseline ESS 15.4, with a mean difference of 3.55 (p<0.001 t-Test) and post-treatment ESS 7.3. There was no significant correlation between the difference in ESS score (baseline - retrospective baseline) with the average daily (hours) use of APAP, the apnea-hypopnea index (AHI), the minimal recorded SatO(2), disease duration, body mass index (BMI) and age. Our findings confirm that the severity of subjective sleepiness reported before treatment with positive airway pressure is often underestimated by patients with OSAS.
- Operational definitions of asthma in recent epidemiological studies are inconsistentPublication . Sá-Sousa, A; Jacinto, T; Azevedo, LF; Morais-Almeida, M; Robalo-Cordeiro, C; Bugalho-Almeida, A; Bousquet, J; Fonseca, JAOBJECTIVE: The best combination of questions to define asthma in epidemiological asthma studies is not known. We summarized the operational definitions of asthma used in prevalence studies and empirically assess how asthma prevalence estimates vary depending on the definition used. METHODS: We searched the Thomson Reuters ISI Web of knowledge and included (1) cross-sectional studies (2) on asthma prevalence (3) conducted in the general population and (4) containing an explicit definition of asthma. The search was limited to the 100 most-cited papers or published since January 2010. For each paper, we recorded the asthma definition used and other variables. Then we applied the definitions to the data of the Portuguese National Asthma survey (INAsma) and of the 2005-2006 National Health and Nutrition Examination Survey (NHANES) computing asthma prevalence estimates for the different definitions. RESULTS: Of 1738 papers retrieved, 117 were included for analysis. Lifetime asthma, diagnosed asthma and current asthma were defined in 8, 12 and 29 different ways, respectively. By applying definitions of current asthma on INAsma and NHANES data, the prevalence ranged between 5.3%-24.4% and 1.1%-17.2%, respectively. CONCLUSIONS: There is considerable heterogeneity in the definitions of asthma used in epidemiological studies leading to highly variable estimates of asthma prevalence. Studies to inform a standardized operational definition are needed. Meanwhile, we propose a set of questions to be reported when defining asthma in epidemiological studies.
- Should we use gait speed in COPD, FEV1 in frailty and dyspnoea in both?Publication . Bousquet, J; Dinh-Xuan, AT; Similowski, T; Malva, J; Ankri, J; Barbagallo, M; Fabbri, L; Humbert, M; Mercier, J; Robalo-Cordeiro, C; Rodriguez-Manas, L; Vellas, B
- Multicentric Genome-Wide Association Study for Primary Spontaneous PneumothoraxPublication . Sousa, I; Abrantes, P; Francisco, V; Teixeira, G; Monteiro, M; Neves, J; Norte, A; Robalo-Cordeiro, C; Moura E Sá, J; Reis, E; Santos, P; Oliveira, M; Sousa, S; Fradinho, M; Malheiro, F; Negrão, L; Feijó, S; Oliveira, SADespite elevated incidence and recurrence rates for Primary Spontaneous Pneumothorax (PSP), little is known about its etiology, and the genetics of idiopathic PSP remains unexplored. To identify genetic variants contributing to sporadic PSP risk, we conducted the first PSP genome-wide association study. Two replicate pools of 92 Portuguese PSP cases and of 129 age- and sex-matched controls were allelotyped in triplicate on the Affymetrix Human SNP Array 6.0 arrays. Markers passing quality control were ranked by relative allele score difference between cases and controls (|RASdiff|), by a novel cluster method and by a combined Z-test. 101 single nucleotide polymorphisms (SNPs) were selected using these three approaches for technical validation by individual genotyping in the discovery dataset. 87 out of 94 successfully tested SNPs were nominally associated in the discovery dataset. Replication of the 87 technically validated SNPs was then carried out in an independent replication dataset of 100 Portuguese cases and 425 controls. The intergenic rs4733649 SNP in chromosome 8 (between LINC00824 and LINC00977) was associated with PSP in the discovery (P = 4.07E-03, ORC[95% CI] = 1.88[1.22-2.89]), replication (P = 1.50E-02, ORC[95% CI] = 1.50[1.08-2.09]) and combined datasets (P = 8.61E-05, ORC[95% CI] = 1.65[1.29-2.13]). This study identified for the first time one genetic risk factor for sporadic PSP, but future studies are warranted to further confirm this finding in other populations and uncover its functional role in PSP pathogenesis.
- Pulmonary tuberculosis epidemiology in Coimbra's District (2000-2011): Information is essential to understand high risk groupsPublication . Eufrásio, R; Alcobia, M; Correia, L
- Greek Gods and Portuguese Pneumology: implementing HERMES.Publication . Alfaro, TM; Barata, F; Elphinstone, M; Sutter, S; Santos, S; Mitchell, S; Maciel, R; Migliori, B; Robalo-Cordeiro, R
- Ethical limits for noninvasive ventilation prescription.Publication . Mendes, MS; Ferreira, C; Dias, C; Moita, J
- Obstructive sleep apnea in women: Prevalence, risk factors and relation to menopausal status.Publication . Tavares e Castro, A; Duarte, JC; Cravo, J; Freitas, S; Matos, MJ
- A novel immunodeficiency syndrome as a rare cause of secondary pulmonary alveolar proteinosis: A diagnosis after 5 decadesPublication . Ferreira, PG; Carvalho, L; Gamboa, FCase report of a male patient with a five-decade follow-up history in a tertiary care hospital distinguished for malabsorption syndrome, failure-to-thrive, meningitis and recurrent bacterial, fungal and mycobacterial pulmonary infections. Additionally, he developed epidermodysplasia verruciformis, several in situ spinocellular carcinomas and an uncharacteristic parenchymal lung disease. Surgical lung biopsy suggested pulmonary alveolar proteinosis with fibrotic change. Retrospectively, severe monocytopenia had been overlooked in the past, as well as low B and NK cell blood counts. Flow cytometry confirmed the absence of the previous cell subsets along with an undetectable population of dendritic blood cells. Dendritic cell, monocyte, B and NK lymphoid Human Deficiency Syndrome (DCMLS) is a novel rare immunodeficiency described in 2010, linked to GATA-2 mutation. This syndrome should be highlighted as a rare cause of acquired PAP, with a radiological pattern encompassing potential fibrotic change. Failure to recognize monocytopenia may impede the chance to diagnose.