Browsing by Author "Saraiva, M."
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- Homozygosity for the E526V Mutation in Fibrinogen A Alpha-Chain Amyloidosis: The First ReportPublication . Tavares, I.; Lobato, L.; Matos, C.; Santos, J.; Moreira, P.; Saraiva, M.; Castro Henriques, A.Systemic hereditary amyloidoses are autosomal dominant diseases associated with mutations in genes encoding ten different proteins. The clinical phenotype has implications on therapeutic approach, but it is commonly variable and largely dependent on the type of mutation. Except for rare cases involving gelsolin or transthyretin, patients are heterozygous for the amyloidogenic variants. Here we describe the first patient identified worldwide as homozygous for a nephropathic amyloidosis, involving the fibrinogen variant associated with the fibrinogen alpha-chain E526V (p.Glu545Val) mutation. In 1989, a 44-year-old woman presented with hypertension, hepatosplenomegaly, nephrotic syndrome, and renal failure. She started hemodialysis in 1990 and 6 years later underwent isolated kidney transplantation from a deceased donor. Graft function and clinical status were unremarkable for 16 years, despite progressively increased left ventricular mass on echocardiography. In 2012, 4 months before death, she deteriorated rapidly with severe heart failure, precipitated by Clostridium difficile colitis and urosepsis. Affected family members developed nephropathy, on average, nearly three decades later, which may be explained by the gene dosage effects on the phenotype of E526V (p.Glu545Val) fibrinogen A alpha-chain amyloidosis.
- Medical Emergency Team: How do we play when we stay? Characterization of MET actions at the scenePublication . Silva, R.; Saraiva, M.; Cardoso, T.; Aragão, I.BACKGROUND: The creation, implementation and effectiveness of a medical emergency team (MET) in every hospital is encourage and supported by international bodies of quality certification. Issues such as what is the best composition of the team or the interventions performed by the MET at the scene and the immediate outcomes of the patients after MET intervention have not yet been sufficiently explored. The purpose of the study is to characterize MET actions at the scene and the immediate patient outcome. METHODS: Retrospective cohort study, at a tertiary care, university-affiliated, 600-bed hospital, in the north of Portugal, over two years. RESULTS: There were 511 MET activations: 389 (76%) were for inpatients. MET activation rate was 8.6/1,000 inpatients. The main criteria for activation were airway threatening in 143 (36.8%), concern of medical staff in 121 (31.1%) and decrease in GCS > 2 in 98 (25.2%) patients; MET calls for cardiac arrest occurred in 68 patients (17.5%). The median (IQR) time the team stayed at the scene was 35 (20-50) minutes. At the scene, the most frequent actions were related to airway and ventilation, namely oxygen administration in 145 (37.3%); in circulation, fluid were administered in 158 (40.6%); overall medication was administered in 185 (47.5%) patients. End-of-life decisions were part of the MET actions in 94 (24.1%) patients. At the end of MET intervention, 73 (18.7%) patients died at the scene, 190 (60.7%) stayed on the ward and the remaining 123 patients were transferred to an increased level of care. Crude hospital mortality rate was 4.1% in the 3 years previously to MET implementation and 3.6% in the following 3 years (p < 0.001). DISCUSSION: During the study period, the rate of activation for medical inpatients was significantly higher than that for surgical inpatients. In our hospital, there is no 24/7 medical cover on the wards, with the exception of high-dependency and intensive care units; assuming that the number of unplanned admissions and chronic ill patients is greater in medical wards that could explain the difference found, which prompts the implementation of a 24/7 ward residence. The team stayed on site for half an hour and during that time most of the actions were simple and nurse-driven, but in one third of all activations medical actions were taken, and in a forth (24%) end-of-life decisions made, reinforcing the inclusion of a doctor in the MET. A significant decrease in overall hospital mortality rate was observed after the implementation of the MET. CONCLUSIONS: The composition of our MET with an ICU doctor and nurse was reinforced by the need of medical actions in more than half of the situations (either clinical actions or end-of-life decisions). After MET implementation there was a significant decrease in hospital mortality. This study reinforces the benefit of implementing an ICU-MET team.
- A Prediction Rule to Stratify Mortality Risk of Patients with Pulmonary TuberculosisPublication . Bastos, H.; Osório, N.; Castro, A.; Ramos, A.; Carvalho, T.; Meira, L.; Araújo, D.; Almeida, L.; Boaventura, R.; Fragata, P.; Chaves, C.; Costa, P.; Portela, M.; Ferreira, I.; Magalhães, S.; Rodrigues, F.; Sarmento-Castro, R.; Duarte, R.; Guimarães, J.; Saraiva, M.Tuberculosis imposes high human and economic tolls, including in Europe. This study was conducted to develop a severity assessment tool for stratifying mortality risk in pulmonary tuberculosis (PTB) patients. A derivation cohort of 681 PTB cases was retrospectively reviewed to generate a model based on multiple logistic regression analysis of prognostic variables with 6-month mortality as the outcome measure. A clinical scoring system was developed and tested against a validation cohort of 103 patients. Five risk features were selected for the prediction model: hypoxemic respiratory failure (OR 4.7, 95% CI 2.8-7.9), age ≥50 years (OR 2.9, 95% CI 1.7-4.8), bilateral lung involvement (OR 2.5, 95% CI 1.4-4.4), ≥1 significant comorbidity-HIV infection, diabetes mellitus, liver failure or cirrhosis, congestive heart failure and chronic respiratory disease-(OR 2.3, 95% CI 1.3-3.8), and hemoglobin <12 g/dL (OR 1.8, 95% CI 1.1-3.1). A tuberculosis risk assessment tool (TReAT) was developed, stratifying patients with low (score ≤2), moderate (score 3-5) and high (score ≥6) mortality risk. The mortality associated with each group was 2.9%, 22.9% and 53.9%, respectively. The model performed equally well in the validation cohort. We provide a new, easy-to-use clinical scoring system to identify PTB patients with high-mortality risk in settings with good healthcare access, helping clinicians to decide which patients are in need of closer medical care during treatment.
- The importance of ultrasound findings in the study of anal painPublication . Vieira, A.; Castro-Poças, F.; Lago, P.; Pimentel, R.; Pinto, R.; Saraiva, M.; Areias, J.ABSTRACT Objective: endoanal ultrasonography can detect organic causes of anal pain without pathology on physical examination. The aim of this study is to evaluate the importance of endoanal ultrasonography in the diagnosis and therapeutic management of idiopathic and functional anal pain. Material and methods: retrospective study, between 15 March 2005 and 15 June 2008, of all patients with proctalgia and normal examination or with alterations not responsible for anal pain at proctologic exam that have undergone an endoanal ultrasonography. Results: a total of 90 patients were analyzed, with a mean age of 50.5 years, 58% were female. Twenty-three patients had functional anal pain clinic criteria. Endoanal ultrasonography revealed alterations in 49% of patients. The primary findings were changes in sphincters in 14 patients, followed by anal sepsis in 12 patients, anal fissure in 10 patients, perirectal lesions in 6 patients and ulcer of the anal canal in 2 patients. Of the patients with sphincter defects, 5 patients had criteria of chronic anal pain. In this group of patients, no differences were found in manometric and defecographic results between the different ultrasound abnormalities. Conclusions: the endoanal ultrasonography detected occult organic lesions to proctologic examination, in half the patients with anal pain. Ultrasound abnormalities were found in 22% of patients with functional anal pain. However, there was no correlation between ultrasound findings and physiological studies, and therefore could not find etiological or pathogenic factors of functional anal pain.
- The role of endoscopic ultrasound in a case of lung cancer with jaundicePublication . Castro-Pocas, F.; Araújo, T.; Ferreira, M.; Saraiva, M.Lung cancer is one of the major causes of death in the world. Small cell carcinoma is the most aggressive type and can spread rapidly. The association of a small cell carcinoma with hepatic hilar metastasis and biliary obstruction is rare. Endoscopic ultrasound allows the aspiration of a cytology sample from adenopathies for diagnostic purpose. We present the case of a patient with lung cancer, with lymph node metastasis to the hepatic hilum and extrinsic biliary tree compression. Endoscopic ultrasound allowed the definitive diagnosis of hepatic hilar metastasis of a lung small cell carcinoma. To the author's knowledge it was the first time that endoscopic ultrasound was used for the diagnosis of hepatic hilar lymph node metastasis of lung cancer.