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de Souza M.V.,Federal University of Rio Grande do Sul | Krug B.C.,Federal University of Rio Grande do Sul | Picon P.D.,Servico de Medicina Interna | Schwartz I.V.D.,Federal University of Rio Grande do Sul
Ciencia e Saude Coletiva | Year: 2010

This paper approaches in a critical way aspects of Brazilian public policies for drugs, emphasizing those classified as high cost and for rare diseases. The lysosomal storage diseases was taken as an example because of their rarity and the international trend for the development of new drugs for their treatment, all at high costs. Three lysosomal storage diseases were approached: Gaucher disease, Fabry disease and mucopolysaccharidosis type I. Gaucher disease has its treatment drug licensed in Brazil and guidelines for its use are established through a clinical protocol by the Ministry of Health. The others have their drug treatments registered in Brazil; however, no treatment guidelines for them have been developed by the government. The objective of the paper was to foster the discussion on the role of health technology assessment for high-cost drugs for rare diseases in Brazil, emphasizing the need for establishing health policies with legitimacy towards these diseases. Despite the difficulties in establishing a health policy for each rare disease, it is possible to create rational models to deal with this growing challenge.

Goncalves A.M.,Servico de Medicina Interna | Correia A.,Instituto Nacional Of Emergencia Medica | Falcao L.M.,University of Lisbon
Revista Portuguesa de Cardiologia | Year: 2013

A case of tricuspid valve infective endocarditis is presented. Since this was not the first episode, the patient had not undergone invasive procedures and there was no history of intravenous drug abuse, the possibility of congenital heart disease was considered, a hypothesis that was confirmed. © 2011 Sociedade Portuguesa de Cardiologia Published by Elsevier España, S.L. All rights reserved.

Botton M.R.,Federal University of Rio Grande do Sul | Bandinelli E.,Federal University of Rio Grande do Sul | Rohde L.E.P.,Servico de Cardiologia | Amon L.C.,Servico de Medicina Interna | Hutz M.H.,Federal University of Rio Grande do Sul
British Journal of Clinical Pharmacology | Year: 2011

Aims: to investigate the influence of polymorphisms in cyp2c9, vkorc1, cyp4f2 and f2 genes on warfarin dose-response and develop a model including genetic and non-genetic factors for warfarin dose prediction needed for each patient. methods a total of 279 patients of european ancestry on warfarin medication were investigated. genotypes for -1639g>a, 1173c>t, and 3730g>a snps in the vkorc1 gene, cyp2c9*2 and cyp2c9*3, 1347c>t in the cyp4f2 gene and 494c>t in the f2 gene were determined by allelic discrimination with taqman 5'-nuclease assays. results the cyp2c9*2 and cyp2c9*3 polymorphisms in the cyp2c9 gene, -1639g>a and 1173c>t in the vkorc1 gene and 494c>t in the f2 gene are responsible for lower anticoagulant doses. in contrast, 1347c>t in the cyp4f2 gene and 3730g>a in the vkorc1 gene are responsible for higher doses of warfarin. an algorithm including genetic, biological and pharmacological factors that explains 63.3% of warfarin dose variation was developed. conclusion the model suggested has one of the highest coefficients of determination among those described in the literature. © 2011 The Authors. British Journal of Clinical Pharmacology © 2011 The British Pharmacological Society.

Rodrigues R.P.,Servico de Medicina Interna | Moura D.,University of Porto
Acta Medica Portuguesa | Year: 2011

The prevalence of carbon monoxide intoxication in the World shows that this is a common situation. In Portugal, there are no concrete data available in literature and its incidence remains unknown. Currently, the use of hyperbaric oxygen is a valid therapeutic for carbon monoxide poisoning management. However, its effectiveness and its proper handling are still controversial The first aim of this study was to estimate the incidence of carbon monoxide intoxication in Portugal and to analyze its demographic characteristics. The second objective of this work was to evaluate the possible change in the type of treatment applied in areas near de hyperbaric chamber of Unidade Local de Saúde de Matosinhos, since its opening in June 2006. To achieve these objectives, we conducted a survey on admissions data for carbon monoxide intoxication occured between January first, 2000 and December 31, 2007. These data was collected in seven hospitals and in the Administração Central do Sistema de Saúde, I.P. Nationally, 621 hospitalizations were recorded, which represents an incidence of 5,86/100000 in 8 years. In the seven hospitals, there were 93 hospitalizations due to carbon monoxide intoxication during the same period of time. There was a peak of incidence during winter, between November and March and there was a similar distribution in men (47,3%) and women (52,7%). Since June 2006, date of opening of the hyperbaric chamber, the Unidade Local de Saúde de Matosinhos, E.P.E. recorded a sharp increase in the number of hospitalization for carbon monoxide intoxication. The number of admissions in the 19 months after the chamber opening was double the number of all cases occurred in that institution in the 65 months prior. We concluded that, in Portugal, carbon monoxide intoxication is an uncommon situation but it ́s still an important cause of hospitalization. The referral of cases to the Unidade Local de Saúde de Matosinhos, E.P.E. since the opening of hyperbaric chamber objectively increased. Thus, we can assume that peripheral hospitals are aware of the existence of hyperbaric chamber and its potential in treatment of carbon monoxide poisoning. © 2011 CELOM.

Cesario V.,Servico de Medicina Interna | Loureiro M.J.,Servico de Cardiologia | Pereira H.,Servico de Cardiologia
Revista Portuguesa de Cardiologia | Year: 2012

Takotsubo cardiomyopathy, also known as transient left ventricular apical ballooning syndrome, stress-induced cardiomyopathy and broken heart syndrome, is characterized by transient left ventricular dysfunction in the absence of obstructive coronary artery disease. It was first described in 1990 in Japan, and gained worldwide recognition following the publication of several series of case reports. Its prevalence is estimated to be 1.7-2.2% of suspected acute coronary syndromes. Although takotsubo cardiomyopathy has been progressively better characterized, certain aspects remain to be clarified, and it is still under study. In this article, we report a series of ten cases of takotsubo cardiomyopathy admitted to a cardiology department, and compare the clinical, laboratory, electrocardiographic and imaging characteristics, therapeutic regimens and follow-up of these patients with those described in the latest scientific reviews. © 2011 Sociedade Portuguesa de Cardiologia. Published by Elsevier España, S.L. All rights reserved.

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