Browsing by Author "Santos, R"
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- Eczema de contacto alérgico a artroplastias – uma raridade ou uma entidade subdiagosticada?Publication . Resende, C; Santos, R; Pereira, T; Araújo, C; Tavares, N; Brito, CIntrodução: O eczema de contacto alérgico aos constituintes das próteses ocorre em 1-5% dos doentes e pode ser a causa de falência das artroplastias. Os metais sensibilizantes mais comuns são o níquel, o cobalto e o crómio. Métodos: Estudo retrospectivo dos doentes com artroplastias, submetidos a testes epicutâneos nos últimos 2 anos, com suspeita clinica de eczema de contacto alérgico. Efectuaram-se testes com a bateria padrão do Grupo Português de Estudo das Dermites de Contacto e as baterias complementares de metais, acrilatos/metacrilatos e antibióticos tópicos. Resultados: Foram testados 14 doentes: 10 submetidos a artroplastias do joelho, 3 da anca e 1 do tornozelo. A média de idades foi de 61,6 anos, sendo que 12 eram do sexo feminino. Todos os doentes apresentavam limitação funcional das articulações. A sintomatologia apareceu em média 14,4 meses após a cirurgia. Nove doentes obtiveram positividade ao níquel, 5 ao cobalto, 1 ao crómio, 1 à gentamicina e neomicina. Nesses casos, optou-se pela cirurgia de revisão com substituição por componentes em oxinium e/ou titânio, com melhoria dos sinais inflamatórios. Discussão: Esta revisão mostrou a importância da realização de testes epicutâneos nos doentes com sinais clínicos de falência das artroplastias. Observou-se melhoria das queixas e dos sinais inflamatórios em todos os doentes com sensibilização aos constituintes das artroplastias após a sua substituição. Permanece controverso se os doentes com suspeita de eczema de contacto alérgico a artroplastias deverão ser testados apenas com os seus constituintes ou com uma bateria alargada de alergénios
- Hereditary spherocytosis: a common form of hemolytic anemia, although unexpected when resulting from a “de novo” mutationPublication . Sotto-Mayor, J; Pacheco, AP; Santos, R; Esperança, S; Oliveira e Silva, A
- Late-onset of eruptive syringomas: a diagnostic challengePublication . Resende, C; Araújo, C; Santos, R; Pereira, T; Brito, CSyringoma is a benign, adnexal tumor of the eccrine sweat gland ducts. Eruptive syringomas are a rare variant, occurring before or during puberty in most cases. A 57-year-old man was observed in our department, with a 10-year history of multiple brownish papules (1-4mm in diameter), localized on the neck, shoulders, trunk and axillae. The clinical diagnosis was cutaneous mastocytosis. Histopathological examination from a papule in the trunk was compatible with the diagnosis of syringoma. The patient was treated with isotretinoin, without any improvement. The clinical diagnosis of eruptive syringoma is difficult and histological examination is crucial for its diagnosis. Long-term morbidity is not associated with syringomas; they are treated for cosmetic reasons with unsatisfactory results.
- Paget's Bone disease: When other comorbidities hide the diagnosticPublication . Sotto-Mayor, J; Pacheco, AP; Santos, R; Esperança, S; Oliveira e Silva, A
- Ryanodine myopathies without central cores-clinical, histopathologic, and genetic description of three cases.Publication . Rocha, J; Taipa, R; Melo Pires, M; Oliveira, J; Santos, R; Santos, MBACKGROUND: Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS: Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness from age 5, presenting with a progressive scoliosis starting at age 10. Patient 2 is an 18-year-old girl with progressively worsening muscle hypotrophy and mild proximal, four-limb weakness. She developed a rapidly progressive scoliosis from age 11 and needed surgical treatment at age 14 years. Patient 3 is an 11-year-old boy with moderate proximal limb weakness and progressive neck flexor weakness, first noticed at age 2. Muscle biopsies revealed type 1 fiber predominance (Patients 1 and 2) or abnormal type 1 fiber uniformity (Patient 3). Different RYR1 variants were identified in all patients. In Patients 1 and 3, these changes were validated as being pathogenic. CONCLUSIONS: These patients illustrate early-onset, progressive myopathies with predominant axial involvement. Histopathologic findings were abnormal but not specific for a diagnosis, particularly central core myopathy. Genetic testing helped broaden the range of phenotypes included in the RYR1-related myopathies. Our patients reinforce the need to recognize the broad histopathologic variability of RYR1-related myopathies and sometimes lack of pathognomonic findings that may reduce the diagnostic threshold of this disease. We suggest that the predominance of type 1 fibers and involvement of axial muscles may be an important element to consider the RYR1 gene as candidate.
- Sweet's syndrome associated with cellulitis - a challenging diagnosisPublication . Resende, C; Santos, R; Pereira, T; Brito, CSweet's syndrome is a neutrophilic dermatosis with worldwide distribution that has been associated with inflammatory autoimmune diseases, infections, malignancies, drugs, and pregnancy. The disease is idiopathic in up to 50% of patients. A 64-year-old woman, diagnosed with right limb cellulitis (4 days of evolution), was seen at our department, due to persistent cellulitis and progressive appearance of painful nodules and plaques in both shins and the right forearm (2 days of evolution). Taken together, clinical, laboratory and pathological data suggested the diagnosis of Sweet's syndrome, probably secondary to cellulitis of the right inferior limb. We suggest that cellulitis may be associated with Sweet's syndrome, a rare association in the literature.
- Thrombus aspiration in patients with ST-elevation myocardial infarction: results of a national registry of interventional cardiologyPublication . Pereira, H; Caldeira, D; Teles, RC; Costa, M; da Silva, PC; da Gama Ribeiro, V; Brandão, V; Martins, D; Matias, F; Pereira-Machado, F; Baptista, J; Abreu, PF; Santos, R; Drummond, A; de Carvalho, HC; Calisto, J; Silva, JC; Pipa, JL; Marques, J; Sousa, P; Fernandes, R; Ferreira, RC; Ramos, S; Oliveira, EI; de Sousa Almeida, MBACKGROUND: 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..
- Trends in coronary angioplasty in Portugal from 2002 to 2013 according to the Portuguese National Registry of Interventional CardiologyPublication . Pereira, H; Campante Teles, R; Costa, M; Canas da Silva, P; da Gama Ribeiro, V; Brandão, V; Martins, D; Matias, F; Pereira-Machado, F; Baptista, J; Farto E Abreu, P; Santos, R; Drummond, A; Cyrne de Carvalho, H; Calisto, J; Silva, JC; Pipa, JL; Marques, J; Sousa, P; Fernandes, R; Cruz Ferreira, R; Ramos, S; Oliveira, E; Almeida, MINTRODUCTION AND OBJECTIVES: The aim of the present paper was to report trends in coronary angioplasty for the treatment of ST-elevation myocardial infarction (STEMI) in Portugal. METHODS: Prospective multicenter data from the Portuguese National Registry of Interventional Cardiology (RNCI) and official data from the Directorate-General for Health (DGS) were studied to analyze percutaneous coronary intervention (PCI) procedures for STEMI from 2002 to 2013. RESULTS: In 2013, 3524 primary percutaneous coronary intervention (p-PCI) procedures were performed (25% of all procedures), an increase of 315% in comparison to 2002 (16% of all interventions). Between 2002 and 2013 the rate increased from 106 to 338 p-PCIs per million population per year. Rescue angioplasty decreased from 70.7% in 2002 to 2% in 2013. During this period, the use of drug-eluting stents grew from 9.9% to 69.5%. After 2008, the use of aspiration thrombectomy increased, reaching 46.7% in 2013. Glycoprotein IIb-IIIa inhibitor use decreased from 73.2% in 2002 to 23.6% in the last year of the study. Use of a radial approach increased steadily from 8.3% in 2008 to 54.6% in 2013. CONCLUSION: During the reporting period there was a three-fold increase in primary angioplasty rates per million population. Rescue angioplasty has been overtaken by p-PCI as the predominant procedure since 2006. New trends in the treatment of STEMI were observed, notably the use of drug-eluting stents and radial access as the predominant approach.