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- Broncho-Esophageal Fistula: When Surgery and Endoscopy Fail, Consider Physiological Lung ExclusionPublication . Maia, D; Tronchetti, J; D'Journo, X; Dutau, HWe discuss the case of an esophageal cancer patient treated by chemo and radiotherapy complicated by an esophageal stenosis and an iatrogenic broncho-esophageal fistula. This latter was managed with multiple palliative stenting procedures and colonic surgical bypass. Despite a long disease free survival but decreased quality of life and frailty, we came to the proposal of an extremely unusual form of treatment - physiological lung exclusion, with clinical benefit and so far without any drawbacks related to the procedure.
- Endobronchial Amphotericin B to Treat Hemoptysis in an Inoperable Patient with AspergillosisPublication . Pinto, M; Rodrigues, J; Silva, M; Maia, D; Miguel, AA 37-year-old man presented with chronic cavitary pulmonary aspergillosis and hemoptysis refractory to systemic antifungal therapy with voriconazole and bronchial artery embolization. Surgical excision was unfeasible due to the patient's refusal of blood transfusions. Ten sessions of intracavitary instillation of amphotericin B via flexible bronchoscopy were then performed. Hemoptysis cessation and aspergilloma resolution were achieved, with no toxicity or side effects, and the clinical benefits were sustained at six months of follow-up.
- Expert Perspectives on the Management of Alpha 1-Antitrypsin DeficiencyPublication . 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 diagnosis and management of alpha 1-antitrypsin deficiency. Nevertheless, some important matters are yet to be included in those, mainly due to lack of robust scientific evidence, and continue to represent a point of discussion. This article reviews some important scientific publications and expresses the perspectives of a group of Portuguese experts regarding the management of alpha 1-antitrypsin deficiency, namely in terms of the pre and neonatal diagnosis, the impact of the COVID-19 pandemic, the validity of replacement therapy in lung transplant-receiving, and finally, alternative strategies of alpha 1-antitrypsin deficiency treatment to improve the patients' quality of life.
- Validation of App and Phone Versions of the Control of Allergic Rhinitis and Asthma Test (CARAT)Publication . Jácome, C; Pereira, AM; Almeida, R; Amaral, R; Correia, MA; Mendes, S; Vieira-Marques, P; Ferreira, JA; Lopes, I; Gomes, J; Vidal, C; López Freire, S; Méndez Brea, P; Arrobas, A; Valério, M; Chaves Loureiro, C; Santos, LM; Couto, M; Araujo, L; Todo Bom, A; Azevedo, JP; Cardoso, J; Emiliano, M; Gerardo, R; Lozoya, C; Pinto, PL; Castro Neves, A; Pinto, N; Palhinha, A; Teixeira, F; Ferreira-Magalhães, M; Alves, C; Coelho, D; Santos, N; Menezes, F; Gomes, R; Cidrais Rodrigues, JC; Oliveira, G; Carvalho, J; Rodrigues Alves, R; Moreira, AS; Costa, A; Abreu, C; Silva, R; Morête, A; Falcão, H; Marques, ML; Câmara, R; Cálix, MJ; Bordalo, D; Silva, D; Vasconcelos, MJ; Fernandes, RM; Ferreira, R; Freitas, P; Lopes, F; Almeida Fonseca, J
- Measuring Adherence to Inhaled Control Medication in Patients with Asthma: Comparison Among an Asthma App, Patient Self‐Report and Physician AssessmentPublication . Cachim, A; Pereira, AM; Almeida, R; Amaral, R; Alves‐Correia, M; Vieira‐Marques, P; Chaves‐Loureiro, C; Ribeiro, C; Cardia, F; Gomes, J; Vidal, C; Silva, E; Rocha, S; Rocha, D; Marques, ML; Páscoa, R; Morais, D; Cruz, AM; Santalha, M; Simões, JA; da Silva, S; Silva, D; Gerardo, R; Todo Bom, F; Morete, A; Vieira, I; Vieira, P; Monteiro, R; Raimundo, MR; Monteiro, L; Neves, Â; Santos, C; Penas, AM; Regadas, R; Varanda Marques, J; Rosendo, I; Abreu Aguiar, M; Fernandes, S; Seiça Cardoso, C; Pimenta, F; Meireles, P; Gonçalves, M; Almeida Fonseca, J; Jácome, CBackground: Previous studies have demonstrated the feasibility of using an asthma app to support medication management and adherence but failed to compare with other measures currently used in clinical practice. However, in a clinical setting, any additional adherence measurement must be evaluated in the context of both the patient and physician perspectives so that it can also help improve the process of shared decision making. Thus, we aimed to compare different measures of adherence to asthma control inhalers in clinical practice, namely through an app, patient self-report and physician assessment. Methods: This study is a secondary analysis of three prospective multicentre observational studies with patients (≥13 years old) with persistent asthma recruited from 61 primary and secondary care centres in Portugal. Patients were invited to use the InspirerMundi app and register their inhaled medication. Adherence was measured by the app as the number of doses taken divided by the number of doses scheduled each day and two time points were considered for analysis: 1-week and 1-month. At baseline, patients and physicians independently assessed adherence to asthma control inhalers during the previous week using a Visual Analogue Scale (VAS 0-100). Results: A total of 193 patients (72% female; median [P25-P75] age 28 [19-41] years old) were included in the analysis. Adherence measured by the app was lower (1 week: 31 [0-71]%; 1 month: 18 [0-48]%) than patient self-report (80 [60-95]) and physician assessment (82 [51-94]) (p < 0.001). A negligible non-significant correlation was found between the app and subjective measurements (ρ 0.118-0.156, p > 0.05). There was a moderate correlation between patient self-report and physician assessment (ρ = 0.596, p < 0.001). Conclusions: Adherence measured by the app was lower than that reported by the patient or the physician. This was expected as objective measurements are commonly lower than subjective evaluations, which tend to overestimate adherence. Nevertheless, the low adherence measured by the app may also be influenced by the use of the app itself and this needs to be considered in future studies.
- Validity of a Clinical Scale in Predicting the Failure of Non-Invasive Ventilation in Hypoxemic PatientsPublication . Carrillo, A; Lopez, A; Carrillo, L; Caldeira, V; Guia, M; Alonso, N; Renedo, A; Quintana, M; Sanchez, J; Esquinas, AIntroduction: The HACOR scale is a clinical score that can predict early failure of NIV in hypoxemic acute respiratory failure (ARF) The aim of this study is to analyze the validity of the HACOR scale. Methods: A retrospective study of a cohort of over 2749 episodes on 2711 consecutive patients requiring NIV for hypoxemic ARF in a polyvalent intensive care unit. The scale was measured before starting NIV and at 1, 6, 12, 24 and 48 h after the initiation of NIV. Results: NIV failure occurred in 963 patients (35%). The value of the HACOR scale before NIV did not differ between success and failure. However, at 1, 6, 12, 24 and 48 h of NIV, the scale values clearly differed between the two groups. The HACOR scale at NIV initiation accurately predicts NIV failure in the first hour, with an optimal cut-off value of 8 points. The AUC for predicting NIV failure with HACOR at 1 h is greater than 0.9 in patients with pneumonia and adult respiratory distress syndrome (ARDS). Conclusions: The HACOR scale measured at 1 h after NIV initiation accurately predicts NIV failure, especially in pneumonia and ARDS.
- Thromboembolic Risk in COVID-19 Patients: Is There a Hidden Link?Publication . Cidade, J; Pinheiro, H; Dias, A; Santos, M; Nascimento, B; Figueiredo, C; Pinto, R; Pereira, L; Rodrigues, C; Maltez, FBackground Although evidence has emerged indicating that patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pneumonia present a high risk of venous thromboembolism (VTE), its real incidence and best diagnosis course remain unclear. In this study, we aimed to determine the incidence of pulmonary embolism in these patients and the role of D-dimer serum level as a predictive factor of a new VTE event. Methodology This was a single-center retrospective observational cohort study conducted in a tertiary hospital. All patients admitted to the infectious diseases ward with SARS-CoV-2 pneumonia with clinical or laboratory criteria for suspected VTE events were eligible for inclusion in the study. The t-test or Mann-Whitney U test was used to analyze the differences between the with-VTE group and the without-VTE group. Results Overall, VTE incidence was registered to be 30%. Chest computed tomography angiography data revealed thrombus mainly in segmental (five patients, 71%) and subsegmental pulmonary artery branches (four patients, 57%). No thrombus on major branches was documented. D-dimer serum levels (collected at hospital admission, 48 hours before the suspected VTE event date and at suspected VTE event date) were analyzed, and, despite a consistent tendency of higher values in the with-VTE group, no statistical difference was observed. Moreover, no statistical difference was observed between the two groups in mortality rates. Conclusions A clear higher risk of VTE events in SARS-CoV-2 pneumonia patients was not documented, and a link between the impact of VTE occurrence and a worse prognosis was not demonstrated. Therefore, we suggest that the use of D-dimer serum level should not be used as a predictor of VTE in SARS-CoV-2 pneumonia patients.
- Erasmus Syndrome: an Underrecognized EntityPublication . Magalhães, A; Moreira, I; Pinheiro, S; Borba, AWe present a case of a 33-year-old male who worked as a plumber and a locksmith. The patient presented with diffuse myalgia and asthenia, skin sclerosis and puffy fingers, Raynaud's phenomenon, exertional dyspnea and erectile dysfunction. The presence of specific autoantibodies enabled the diagnosis of systemic sclerosis. Chest-computed tomography revealed upper lobe consolidation. After extensive evaluation, the multidisciplinary interstitial lung disease team concluded that the patient also had advanced silicosis. After a year, there was significant clinical, radiologic, and functional deterioration of the lung disease. The patient was referred for lung transplant. Silica inhalation is the cause of silicosis but is also implicated in the development of systemic sclerosis (Erasmus syndrome). Although they share a common risk factor, it is rare to find both diseases co-existing. We present this case of a young patient where both diseases presented aggressively in order to raise awareness to this association.
- A New ABCA3 Gene Mutation Presenting as Early Neonatal Surfactant DeficiencyPublication . Martins de Abreu, S; Oliveira Antunes, D; Abreu, FMutations of the ATP-binding cassette transporter A3 gene (ABCA3) causing the dysfunction of surfactant proteins are a well-established cause of interstitial lung disease. The clinical presentation is variable ranging from neonatal early death to mild forms of interstitial lung disease in the adult. We present the case of a newborn with early neonatal respiratory distress. The clinical and radiologic findings were compatible with interstitial lung disease. The disease progressed toward severe respiratory insufficiency and the patient died at the age of 3 years. A variant not yet described in the literature was found in the ABCA3 gene (c.4442C>T), in apparent homozygosity. Parental genetic studies revealed that only the father was a carrier for this variant. The quantitative study of the ABCA3 gene in our patient revealed a deletion affecting exon 32 and possibly 29. This report describes the phenotype of a new ABCA3 variant causing surfactant deficiency while also highlighting the importance of considering gene deletions in case of unconfirmed homozygosity.
- Multimodality Imaging in Connective Tissue Disease-Related Interstitial Lung DiseasePublication . Ruano, C; Grafino, M; Borba, A; Pinheiro, S; Fernandes, O; Silva, S; Bilhim, T; Moraes-Fontes, MF; Irion, KInterstitial lung disease is a well-recognised manifestation and a major cause of morbidity and mortality in patients with connective tissue diseases. Interstitial lung disease may arise in the context of an established connective tissue disease or be the initial manifestation of an otherwise occult autoimmune disorder. Early detection and characterisation are paramount for adequate patient management and require a multidisciplinary approach, in which imaging plays a vital role. Computed tomography is currently the imaging method of choice; however, other imaging techniques have recently been investigated, namely ultrasound, magnetic resonance imaging, and positron-emission tomography, with promising results. The aim of this review is to describe the imaging findings of connective tissue disease-related interstitial lung disease and explain the role of each imaging technique in diagnosis and disease characterisation.