Browsing by Author "Ferreira, R."
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- Abcesso hepático amebiano na criança: caso clínicoPublication . Pinheiro, A.; Ferreira, R.; Leça, A.A infecção humana por Entamoeba histolytica tem uma distribuição mundial, com zonas endémicas situadas nos trópicos. A manifestação mais comum é a colite amebiana. O fígado é o órgão extra-intestinal mais frequentemente envolvido. Descreve-se o caso clínico de uma criança do sexo masculino, com nove anos de idade, internada no decurso de quadro clínico de febre alta e dor abdominal, com nove dias de evolução; referia a ingestão de água não canalizada e contacto com cães. Ao exame físico destacava-se a presença de hepatomegalia e dor à palpação no hipocôndrio direito. Analiticamente apresentava parâmetros sugestivos de infecção com leucocitose e proteína C reactiva elevada. A ecografia hepática revelou lesão ocupando espaço. A serologia positiva para Entamoeba histolytica e o exame parasitológico das fezes com quistos deste mesmo parasita permitiram o diagnóstico etiológico. Após terapêutica com metronidazol, seguido de paramomicina, assistiu-se a uma boa evolução clínica. No inquérito epidemiológico, apesar de referência a ingestão de água não canalizada, não foi possível a demonstração inequívoca da fonte de infecção. A amebíase é uma entidade patológica pouco frequente em Portugal, mas não pode ser esquecida, principalmente se houver contexto epidemiológico (ingestão de alimentos e/ou água contaminados com quistos amebianos). ABSTRACT Human infection by Entamoeba histolytica is worldwide spread, with endemic areas in the tropics. The most frequent form of the disease is amebic colitis. The liver is the more commonly affected organ in extraintestinal disease. We describe a case report of a nine year-old boy admitted to the hospital due to high fever and abdominal pain, with a nine days course. There was reference to the ingestion of untreated water. On physical examination he presented enlargement and tenderness of the liver. Laboratory findings were suggestive of infection, with leukocytosis and elevated C reactive protein. Ultrasonography showed a hepatic mass. A positive serologic test for Entamoeba histolytica and the identifi cation of cysts of the parasite by microscopic examination of fresh stool samples allowed the etiologic diagnosis. After treatment with metronidazole, followed by paramomycin, there was a good clinical evolution. Although epidemiological data pointed out to ingestion of groundwater as the source of infection, it was not possible to prove this undoubtfully. Amebiasis is a rare clinical entity in Portugal, but must be taken into account especially if there is a positive epidemiological context (ingestion of food or water contaminated with Entamoeba cysts).
- Actualidades na alimentação - diversificação alimentarPublication . Ferreira, R.
- Avaliação dos níveis de ácidos gordos essenciais (DHA, AA e EPA) em doentes submetidos a dietas restritivas em proteínasPublication . Pacheco, S.; Ferreira, R.; Quelhas, D.; Martins, E.; Lacerda, L.
- Fístula Coronária: Causa Rara de Sopro CardíacoPublication . Diamantino, C.; Machado, R.; Anjos, R.; Ferreira, R.; Martins, F.As fístulas coronárias congénitas são raras, representando cerca de 0,2% a 0,4% das anomalias cardíacas congénitas. Na maioria dos casos são anomalias assintomáticas, condicionando a existência de um sopro cardíaco contínuo, que constitui o principal motivo de estudo do doente. Descreve-se o caso clínico de uma criança de 16 meses, assintomática, referenciada à consulta de cardiologia por um sopro contínuo e cujo ecocardiograma revelou fístula coronária direita de alto débito para a aurícula direita e comunicação interauricular multifenestrada, condicionando dilatação das cavidades direitas. Foi realizado com sucesso o encerramento electivo, por via percutânea, da fístula coronária. Este caso demonstra claramente a importância de um exame clínico cuidadoso, que permitiu o diagnóstico, e a possibilidade de tratamento por cateterismo, seguro e eficaz. Coronary arterial fi stula is a rare congenital cardiac anomaly. It accounts for 0.2%-0.4% of all congenital cardiac anomalies. The majority of the patients is asymptomatic and is referred because of a murmur. We describe the case of a 16 month year old girl, asymptomatic, with a continuous murmur. Echocardiographic study revealed a signifi cant right coronary arterial fi stula draining to the right atrium, a fenestrated atrial septal defect and enlarged right atrium and ventricle. The patient underwent percutaneous closure of the fistula.
- Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid LevelsPublication . Sá, M.; Rocha, J.; Almeida, M.; Carmona, C.; Martins, E.; Miranda, V.; Coutinho, M.; Ferreira, R.; Pacheco, S.; Laranjeira, F.; Ribeiro, I.; Fortuna, A.; Lacerda, L.Infantile Refsum disease (IRD) is one of the less severe of Zellweger spectrum disorders (ZSDs), a group of peroxisomal biogenesis disorders resulting from a generalized peroxisomal function impairment. Increased plasma levels of very long chain fatty acids (VLCFA) and phytanic acid are biomarkers used in IRD diagnosis. Furthermore, an increased plasma level of phytanic acid is known to be associated with neurologic damage. Treatment of IRD is symptomatic and multidisciplinary.The authors report a 3-year-old child, born from consanguineous parents, who presented with developmental delay, retinitis pigmentosa, sensorineural deafness and craniofacial dysmorphisms. While the relative level of plasma C26:0 was slightly increased, other VLCFA were normal. Thus, a detailed characterization of the phenotype was essential to point to a ZSD. Repeatedly increased levels of plasma VLCFA, along with phytanic acid and pristanic acid, deficient dihydroxyacetone phosphate acyltransferase activity in fibroblasts and identification of the homozygous pathogenic mutation c.2528G>A (p.Gly843Asp) in the PEX1 gene, confirmed this diagnosis. Nutritional advice and follow-up was proposed aiming phytanic acid dietary intake reduction. During dietary treatment, plasma levels of phytanic acid decreased to normal, and the patient's development evaluation showed slow progressive acquisition of new competences.This case report highlights the relevance of considering a ZSD in any child with developmental delay who manifests hearing and visual impairment and of performing a systematic biochemical investigation, when plasma VLCFA are mildly increased. During dietary intervention, a biochemical improvement was observed, and the long-term clinical effect of this approach needs to be evaluated.
- Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFbeta gene variants.Publication . Barreto, M.; Ferreira, R.; Lourenço, L.; Moraes-Fontes, M.; Santos, E.; Alves, M.; Carvalho, C.; Martins, B.; Andreia, R.; Viana, J.; Vasconcelos, C.; Mota-Vieira, L.; Ferreira, C.; Demengeot, J.; Vicente, A.Abstract BACKGROUND: CD4+CD25+ regulatory T cells play an essential role in maintaining immune homeostasis and preventing autoimmunity. Therefore, defects in Treg development, maintenance or function have been associated with several human autoimmune diseases including Systemic Lupus Erythematosus (SLE), a systemic autoimmune disease characterized by loss of tolerance to nuclear components and significantly more frequent in females. RESULTS: To investigate the involvement of Treg in SLE pathogenesis, we determined the frequency of CD4+CD25+CD45RO+ T cells, which encompass the majority of Treg activity, in the PBMC of 148 SLE patients (76 patients were part of 54 families), 166 relatives and 117 controls. SLE patients and their relatives were recruited in several Portuguese hospitals and through the Portuguese Lupus Association. Control individuals were blood donors recruited from several regional blood donor centers. Treg frequency was significantly lower in SLE patients than healthy controls (z = -6.161, P < 0.00001) and intermediate in the relatives' group. Remarkably, this T cell subset was also lower in females, most strikingly in the control population (z = 4.121, P < 0.001). We further ascertained that the decreased frequency of Treg in SLE patients resulted from the specific reduction of bona fide FOXP3+CD4+CD25+ Treg. Treg frequency was negatively correlated with SLE activity index (SLEDAI) and titers of serum anti-dsDNA antibodies. Both Treg frequency and disease activity were modulated by IVIg treatment in a documented SLE case. The segregation of Treg frequency within the SLE families was indicative of a genetic trait. Candidate gene analysis revealed that specific variants of CTLA4 and TGFbeta were associated with the decreased frequency of Treg in PBMC, while FOXP3 gene variants were associated with affection status, but not with Treg frequency. CONCLUSION: SLE patients have impaired Treg production or maintenance, a trait strongly associated with SLE disease activity and autoantibody titers, and possibly resulting from the inability to convert FOXP3+CD25- into FOXP3+CD25+ T cells. Treg frequency is highly heritable within SLE families, with specific variants of the CTLA4 and TGFbeta genes contributing to this trait, while FOXP3 contributes to SLE through mechanisms not involving a modulation of Treg frequency. These findings establish that the genetic components in SLE pathogenesis include genes related to Treg generation or maintenance.
- Patient-physician discordance in assessment of adherence to inhaled controller medication: a cross-sectional analysis of two cohortsPublication . Jácome, C.; Pereira, A.; Almeida, R.; Ferreira-Magalhães, Manuel; Couto, M.; Araujo, L.; Pereira, M.; Correia, M.; Loureiro, C.; Catarata, M.; Maia Santos, L.; Pereira, J.; Ramos, B.; Lopes, C.; Mendes, A.; Cidrais Rodrigues, J.; Oliveira, G.; Aguiar, A.; Afonso, I.; Carvalho, J.; Arrobas, A.; Coutinho Costa, J.; Dias, J.; Todo Bom, A.; Azevedo, J.; Ribeiro, C.; Alves, M.; Leiria Pinto, P.; Neuparth, N.; Palhinha, A.; Gaspar Marques, J.; Pinto, N.; Martins, P.; Todo Bom, F.; Alvarenga Santos, M.; Gomes Costa, A.; Silva Neto, A.; Santalha, M.; Lozoya, C.; Santos, N.; Silva, D.; Vasconcelos, M.; Taborda-Barata, L.; Carvalhal, C.; Teixeira, M.; Alves, R.; Moreira, A.; Sofia Pinto, C.; Morais Silva, P.; Alves, C.; Câmara, R.; Coelho, D.; Bordalo, D.; Fernandes, R.; Ferreira, R.; Menezes, F.; Gomes, R.; Calix, M.; Marques, A.; Cardoso, J.; Emiliano, M.; Gerardo, R.; Nunes, C.; Câmara, R.; Ferreira, J.; Carvalho, A.; Freitas, P.; Correia, R.; Fonseca, J.Objective: We aimed to compare patient's and physician's ratings of inhaled medication adherence and to identify predictors of patient-physician discordance. Design: Baseline data from two prospective multicentre observational studies. Setting: 29 allergy, pulmonology and paediatric secondary care outpatient clinics in Portugal. Participants: 395 patients (≥13 years old) with persistent asthma. Measures: Data on demographics, patient-physician relationship, upper airway control, asthma control, asthma treatment, forced expiratory volume in one second (FEV1) and healthcare use were collected. Patients and physicians independently assessed adherence to inhaled controller medication during the previous week using a 100 mm Visual Analogue Scale (VAS). Discordance was defined as classification in distinct VAS categories (low 0-50; medium 51-80; high 81-100) or as an absolute difference in VAS scores ≥10 mm. Correlation between patients' and physicians' VAS scores/categories was explored. A multinomial logistic regression identified the predictors of physician overestimation and underestimation. Results: High inhaler adherence was reported both by patients (median (percentile 25 to percentile 75) 85 (65-95) mm; 53% VAS>80) and by physicians (84 (68-95) mm; 53% VAS>80). Correlation between patient and physician VAS scores was moderate (rs=0.580; p<0.001). Discordance occurred in 56% of cases: in 28% physicians overestimated adherence and in 27% underestimated. Low adherence as assessed by the physician (OR=27.35 (9.85 to 75.95)), FEV1 ≥80% (OR=2.59 (1.08 to 6.20)) and a first appointment (OR=5.63 (1.24 to 25.56)) were predictors of underestimation. An uncontrolled asthma (OR=2.33 (1.25 to 4.34)), uncontrolled upper airway disease (OR=2.86 (1.35 to 6.04)) and prescription of short-acting beta-agonists alone (OR=3.05 (1.15 to 8.08)) were associated with overestimation. Medium adherence as assessed by the physician was significantly associated with higher risk of discordance, both for overestimation and underestimation of adherence (OR=14.50 (6.04 to 34.81); OR=2.21 (1.07 to 4.58)), while having a written action plan decreased the likelihood of discordance (OR=0.25 (0.12 to 0.52); OR=0.41 (0.22 to 0.78)) (R2=44%). Conclusion: Although both patients and physicians report high inhaler adherence, discordance occurred in half of cases. Implementation of objective adherence measures and effective communication are needed to improve patient-physician agreement.
- Thrombus aspiration in patients with ST-elevation myocardial infarction: results of a national registry of interventional cardiologyPublication . Pereira, H.; Caldeira, D.; Teles, R.; Costa, M.; Silva, P.; Ribeiro, V.; Brandão, V.; Martins, D.; Matias, F.; Pereira-Machado, F.; Baptista, J.; Abreu, P.; Santos, R.; Drummond, A.; Carvalho, H.; Calisto, J.; Silva, J.; Pipa, J.; Marques, J.; Sousa, P.; Fernandes, R.; Ferreira, R.; Ramos, S.; Oliveira, E.; Almeida, M.BACKGROUND: We aimed to evaluate the impact of thrombus aspiration (TA) during primary percutaneous coronary intervention (P-PCI) in 'real-world' settings. METHODS: We performed a retrospective study, using data from the National Registry of Interventional Cardiology (RNCI 2006-2012, Portugal) with ST-elevation myocardial infarction (STEMI) patients treated with P-PCI. The primary outcome, in-hospital mortality, was analysed through adjusted odds ratio (aOR) and 95% confidence intervals (95%CI). RESULTS: We assessed data for 9458 STEMI patients that undergone P-PCI (35% treated with TA). The risk of in-hospital mortality with TA (aOR 0.93, 95%CI:0.54-1.60) was not significantly decreased. After matching patients through the propensity score, TA reduced significantly the risk of in-hospital mortality (OR 0.58, 95%CI:0.35-0.98; 3500 patients). CONCLUSIONS: The whole cohort data does not support the routine use of TA in P-PCI, but the results of the propensity-score matched cohort suggests that the use of selective TA may improve the short-term risks of STEMI.