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- Portuguese Consensus Guidelines for the Diagnosis and Treatment of Myasthenia GravisPublication . Cruz, Simão; Cruz, Simão; Matos, Anabela; Braz, Luis; Falcão de Campos, Catarina; Cerqueira, Joao; Medeiros, Luisa; Santos, Ernestina; Santos, Luis; Veiga, AndreiaA miastenia gravis é uma doença autoimune da junção neuromuscular, cuja fisiopatologia consiste na produção de anticorpos patogénicos, mais frequentemente dirigidos contra o recetor nicotínico da acetilcolina e, mais raramente, contra a cinase específica do músculo. Outros elementos fisiopatológicos importantes incluem a cascata do complemento e as linhagens linfocitárias B e T. O diagnóstico assenta em fraqueza muscular fatigável, que pode afetar diversos grupos musculares, de forma isolada ou em combinações variáveis. A deteção sérica de anticorpos patogénicos e/ou a realização de estudos neurofisiológicos são também essenciais para o diagnóstico. O tratamento de manutenção baseia-se tradicionalmente na corticoterapia e em imunossupressores não esteroides. Recentemente, têm surgido várias opções terapêuticas promissoras, como os inibidores da porção terminal do complemento ou os antagonistas do recetor Fc neonatal, que estão a transformar o cenário terapêutico da miastenia gravis, apoiados por evidência robusta de eficácia e segurança. Apesar da publicação de diversas recomendações internacionais ao longo da última década, existem várias questões importantes que carecem de orientações detalhadas. As presentes recomendações foram elaboradas por um grupo de nove especialistas da Sociedade Portuguesa de Estudos de Doenças Neuromusculares e são as primeiras recomendações portuguesas dirigidas à miastenia gravis. Nestas recomendações, produzidas por consenso e baseadas na evidência e na prática clínica, procura-se uniformizar a avaliação dos doentes com miastenia gravis, fornecer orientações concretas para a investigação diagnóstica dos casos suspeitos de miastenia gravis e apoiar as decisões referentes ao tratamento. Entre as principais novidades destas recomendações destacam-se: propostas de marcha diagnóstica e de critérios de diagnóstico, recomendações sobre instrumentos de avaliação da resposta terapêutica, posicionamento dos novos imunossupressores e algoritmos terapêuticos adaptados ao serogrupo e à gravidade clínica.
- Impact of non-pharmacological interventions on the first wave of COVID-19 in Portugal 2020Publication . Bento Loyens, Dinis; Caetano, Constantino; Matias Dias, Carlos; HeliyonIntroduction The COVID-19 pandemic caused over 7 million global deaths. Without vaccines during the first wave, governments implemented nonpharmacological interventions (NPIs) such as lockdowns, school closures, and travel restrictions. This study quantifies the impact of NPIs on COVID-19 transmission in Portugal between 24th February and 1st May. Methods A compartmental SEIR (Susceptible, Exposed, Infectious, Removed) model was employed to simulate the first COVID-19 wave in Portugal, using a Bayesian approach and symptom-onset incidence data. The effect of the lockdown, which began on March 22, 2020, on the effective reproductive number, Rt was measured. A counterfactual scenario was created to ascertain the number of cases prevented by the NPIs during the first 15 days after the implementation of NPI. Results The lockdown reduced overall transmission by 68·6 % (95%Credible Interval (95%CrI): 59·2 %; 77·5 %), almost immediately. This corresponds to a reduction in the effective reproductive number from 2·56 (95%CrI: 2·08; 3·40) to 0·80 (95%CrI: 0·76; 0·84). The counterfactual scenario estimated that the lockdown prevented 118052 (95%CrI: 99464; 145605) cases between 24th February and 6th April. Discussion The lockdown significantly reduced COVID-19 transmission in Portugal, bringing Rt below 1, meaning each person infected fewer than one individual. While costly, lockdowns effectively control disease spread in the absence of vaccines. Conclusion Our findings suggest NPIs curbed epidemic transmission, reducing Rt below 1 and easing hospital loads and deaths. This research will help inform future pandemic decision-making and infectious disease modeling worldwide.
- Connective tissue disease-associated interstitial lung diseasePublication . Oliveira, RP; Ribeiro, R; Melo, L; Grima, B; Oliveira, S; Alves, JDBACKGROUND: Connective tissue diseases (CTD) are frequently associated with interstitial lung disease (ILD), significantly impacting their morbidity and mortality. AIM: Analyze the experience of an autoimmune specialized unit on treating CTD-ILD and characterize the population based on most frequent diseases, imaging patterns, lung function tests results, serology and treatment. Assess mortality and mortality predictors in these patients. METHODS: Retrospective, descriptive and statistical analysis of the CTD-ILD patients followed up at an autoimmune diseases unit during a 6-year period. RESULTS: Over the study period, 75 patients with CTD-ILD were treated with a mean follow-up of 49 ± 31 months. The most frequent CTD were systemic sclerosis and rheumatoid arthritis. ILD was diagnosed prior to CTD in 8% of patients and concomitantly in 35%. Nonspecific interstitial pneumonia was the CT pattern in 60% and 35% had an isolated diminished DLCO on lung function tests. Pulmonary hypertension was present in 12% and it was the single most important mortality predictor (OR 14.41, p = 0.006). Corticosteroids are the mainstay of treatment but biologics were prescribed in 39% of the patients (mostly tocilizumab and rituximab). Two scleroderma patients were recently treated with nintedanib. CONCLUSIONS: ILD is a potential complication of every CTD and can impose a dramatic burden on these patients. The clinical relevance of ILD together with their early expression in the course of the disease underlines the importance of the presence of chest physicians in these units.
- A Potentially Fatal Aphrodisiac: Cantharidin PoisoningPublication . Diaz, P; Carneiro, A; Montes, V; Alves, SCantharidin is a toxin extracted from coleoptera beetles, commonly known as 'Spanish fly'. Traditionally it was used as an aphrodisiac, a vesicant or as an abortifacient. Intoxication by this substance has been widely reported, generally associated with gastrointestinal complications, such as digestive hemorrhage, and genitourinary disorders, such as hematuria and acute kidney injury. The authors describe the case of a 51-year old male patient who developed severe cantharidin poisoning after ingesting a preparation ('tea formulation') containing the substance. The patient reported a burning sensation in his oral cavity, diarrhea and hematuria, having sustained acute kidney injury and atypical neurological symptoms. Due to the lack of an antidote, the available treatment options are reduced to supportive measures. This case strengthens the need for a thorough medical history to ascertain the use of 'natural' products and medicinal herbs (i.e. of unregulated origin), and the importance of educating the community to their potential toxicity.
- Spontaneous Tension PneumocephalusPublication . Serôdio, J; Trindade, M; Favas 1, C
- Direct oral anticoagulants for the management of venous thromboembolism in patients with HIV - a single centre experiencePublication . Oliveira, R; Patel, R; Taylor, C; Czuprynska, J; Arya, R; Roberts, L
- Changes in Iron Metabolism Induced by Anti-Interleukin-6 Receptor Monoclonal Antibody are Associated with an Increased Risk of InfectionPublication . Ribeiro, R; Batista, F; Paula, F; Alves, JD(1) Background: Treatment of patients with rheumatoid arthritis (RA) with an anti-IL-6 receptor (anti-IL-6R) monoclonal antibody (tocilizumab) has been found to influence iron metabolism. The objective of the present study was to ascertain whether changes in iron metabolism induced by anti-IL-6R biologic therapy were independently associated with an increased infection risk. (2) Methods: A prospective longitudinal study of patients with RA treated with tocilizumab was conducted. RA patients treated with an antitumor necrosis factor α monoclonal antibody were also included as a control group. The primary outcome was occurrence of infection during the first 24 months of biologic therapy. (3) Results: A total of 15 patients were included, with a mean age of 51.0 ± 4,1 and 73.3% (n = 11) female. A multivariate survival regression model, adjusted for confounding factors, was fitted for each of the iron metabolism variables. Hazard ratios for being above the median of each parameter was considered. Transferrin saturation above the median value (>32.1%) was associated with a higher infection risk (HR 4.3; 95%CI 1.0-19.69; p = 0.05). Similarly, although non-significantly, higher serum iron was strongly associated with infection occurrence. (4) Conclusions: This study identified a probable association between infection risk and higher serum iron and transferrin saturation in patients with RA on anti-IL-6R biologic therapy. We suggest that both these parameters should be considered relevant contributing factors for infection occurrence in patients on anti-IL-6R therapy.
- Severe Rifampicin-Induced Thrombocytopenia in a Patient With Miliary TuberculosisPublication . Maurício, J; Flor-de-Lima, B; Pacheco, P
- Semantic Computational Analysis of Anticoagulation Use in Atrial Fibrillation From Real World DataPublication . Bean, D; Teo, J; Wu, H; Oliveira, R, et al.Atrial fibrillation (AF) is the most common arrhythmia and significantly increases stroke risk. This risk is effectively managed by oral anticoagulation. Recent studies using national registry data indicate increased use of anticoagulation resulting from changes in guidelines and the availability of newer drugs. The aim of this study is to develop and validate an open source risk scoring pipeline for free-text electronic health record data using natural language processing. AF patients discharged from 1st January 2011 to 1st October 2017 were identified from discharge summaries (N = 10,030, 64.6% male, average age 75.3 ± 12.3 years). A natural language processing pipeline was developed to identify risk factors in clinical text and calculate risk for ischaemic stroke (CHA2DS2-VASc) and bleeding (HAS-BLED). Scores were validated vs two independent experts for 40 patients. Automatic risk scores were in strong agreement with the two independent experts for CHA2DS2-VASc (average kappa 0.78 vs experts, compared to 0.85 between experts). Agreement was lower for HAS-BLED (average kappa 0.54 vs experts, compared to 0.74 between experts). In high-risk patients (CHA2DS2-VASc ≥2) OAC use has increased significantly over the last 7 years, driven by the availability of DOACs and the transitioning of patients from AP medication alone to OAC. Factors independently associated with OAC use included components of the CHA2DS2-VASc and HAS-BLED scores as well as discharging specialty and frailty. OAC use was highest in patients discharged under cardiology (69%). Electronic health record text can be used for automatic calculation of clinical risk scores at scale. Open source tools are available today for this task but require further validation. Analysis of routinely collected EHR data can replicate findings from large-scale curated registries.