Mostrando recursos 1 - 20 de 40

  1. Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil

    Dick, Jéssica; Leistner-Segal, Sandra; Vairo, Filippo Pinto e; Giugliani, Roberto; Schwartz, Ida Vanessa Doederlein
    Introduction: Venous thromboembolism (VTE) is a multifactorial genetic disorder that occurs in approximately one in a thousand adults per year. Because there is no laboratory test or clinical marker useful for predicting which patients with Fabry disease may develop thrombotic events, this study aimed to determine whether there is a hereditary predisposition to hypercoagulation in these patients. Methods: The prevalence of p.R506Q mutation in the factor V gene and of c.G20210A mutation in Factor II (prothrombin) gene was evaluated in 39 patients with Fabry disease from Southern Brazil and correlated with clinical findings. The DNA analysis was performed by real-time...

  2. Molecular cytogenetic evaluation of chromosomal microdeletions : the experience of a public hospital in southern Brazil

    Riegel, Mariluce; Barcellos, Natália; Mergener, Rafaella; Souza, Karen Regina Silva de; Leite, Júlio César Loguercio; Gus, Rejane; Moreira, Lília Maria de Azevedo; Giugliani, Roberto
    Introduction: During the past few decades, the number of diseases identified to be caused by chromosomal microdeletions has increased quickly, bringing a new and crucial role for cytogenetics on the diagnosis of these conditions. The purpose of this study was to identify and characterize chromosomal microdeletions associated with malformation syndromes and intellectual disability. Methods: We retrospectively evaluated a consecutive series of samples from a cohort of 598 subjects with clinical symptoms of a microdeletion syndrome, including the deletion of chromosomes 4p16.3, 5p15.2, 5q35, 7q11.23, 8q24.12, 15q11.2, 16p13.3, 17p13.3, 17p11.2,2, and 22q11.2, as investigated by fluorescence in situ hybridization (FISH). Array-based...

  3. Non-viral gene transfer to the tendon : comparison of two methods

    Melendez, Matias Eliseo; Lagranha, Valeska Lizzi; Baptista, André Lorscheitter; Lompa, Paulo Arlei; Giugliani, Roberto; Matte, Ursula da Silveira
    Background: tendons are part of the connective tissue that joins muscle to bone. Tendon injuries are a problem, since they have a poor ability to regenerate spontaneously. Alternative treatments involving the injection of local growth factors and gene transfer has been evaluated. Thus, we compared two methods for non-viral gene transfer tendons, using the GFP gene as reporter gene. Methods: Wistar rats had the medial quadriceps tendon exposed and the plasmid was transferred by direct injection or complexed with liposomes. Quantification of GFP in the tendom and in the spleen was evaluated by histological analysis with a fluorescence microscope. Results:...

  4. Economic analysis of intravenous immunoglobulin and plasma exchange therapies for the treatment of Guillain-Barré syndrome in a university-based hospital in the south of Brazil

    Britto, Alexandre Paulo Machado de; Ferreira, Maria Angelica Pires; Maciel, Paola Panazzolo; Moreira, Leila Beltrami
    Background: direct costs for treating Guillain-Barré Syndrome (GBS) represent a significant financial burden to public hospitals. Few studies compared the cost of plasma exchange (PE) treatment with human intravenous immunoglobulin (IVIg). Aim: to compare the cost of two therapies for GBS: IVIg and PE. Secondary objective was to evaluate compliance to IVIg prescription guidelines of the Pharmacy and Therapeutics Committee (PTC). Methods: a cross-sectional study included 25 patients with GBS admitted in a university affiliated hospital from June, 2003 through June, 2008. The costs of IVIg (N=20) and PE (N=5) were evaluated through the cost minimization method, considering direct medical...

  5. Análise de prescrições médicas dispensadas em farmácia no Sistema Único de Saúde

    Laste, Gabriela; Torres, Iraci Lucena da Silva; Deitos, Alícia; Souza, Ana Cláudia de; Souza, Andressa de; Kauffmann, Carla; Fernandes, Luciana Carvalho; Ferreira, Maria Beatriz Cardoso
    Objetivo: Analisar os indicadores propostos pela Organização Mundial de Saúde (OMS) em prescrições médicas fornecidas a pacientes atendidos em Centro de Saúde do município de Lajeado – RS. Métodos: Foi realizado estudo transversal, que avaliou dados relativos ao padrão de prescrição em Sistema Único de Saúde (SUS). Resultados: Foram analisadas 292 prescrições médicas. Destas, 282 continham o nome do paciente, mas em apenas três havia o seu endereço. Em 243 prescrições, constava o nome do médico, e, em 227, havia o número de inscrição no Conselho de Medicina. Foram identificados 713 medicamentos, com média de 2,44 por prescrição, sendo aqueles...

  6. Avaliação de fatores associados ao diagnóstico de queimação bucal : um estudo preliminar

    Scarabelot, Vanessa Leal; Gutierrez, Luiz Makito Osawa; Souza, Andressa de; Oliveira, Márcia Gaiger de; Chaves, Anna Cecília Moraes; Munerato, Maria Cristina; Hidalgo, Maria Paz Loayza; Caumo, Wolnei; Torres, Iraci Lucena da Silva
    Objetivo: avaliar fatores associados ao diagnóstico de ardência bucal, como xerostomia, hipossalivação, sintomas depressivos, ansiedade, transtornos de sono, doenças sistêmicas e uso contínuo de medicamentos. Métodos: foram avaliados 22 pacientes atendidos em nível ambulatorial através de escalas validadas e questionário sociodemográfico, seguido de medidas de fluxo salivar espontâneo e estimulado através do método de expectoração salivar. Na análise estatística descritiva foi utilizado SPSS 16.0. Resultados: a amostra foi composta por 4 homens e 18 mulheres com idade média de 61,6+2,83 anos. As médias de fluxo salivar espontâneo e estimulado foram 0,27+0,06 ml/min e 0,84+0,08 ml/min, respectivamente. A hipossalivação esteve presente...

  7. A normativa do Hospital de Clínicas de Porto Alegre para o armazenamento e utilização de materiais biológicos humanos e informações associadas em pesquisa : uma proposta interdisciplinar

    Fernandes, Márcia Santana; Prolla, Patrícia Ashton; Matte, Ursula da Silveira; Meurer, Luíse; Osvaldt, Alessandro Bersch; Bittelbrunn, Ana Cristina da Costa; Schlatter, Rosane Paixão; Kucyk, Rosa; Silva, Fernando Martins Pereira da; Clausell, Nadine Oliveira; Goldim, José Roberto
    Este artigo apresenta a justificativa e o processo de elaboração do marco normativo do Hospital de Clínicas de Porto Alegre (HCPA) para o armazenamento e utilização de materiais biológicos humanos e suas informações associadas em atividades de pesquisa. Um grupo de trabalho multiprofissional se reuniu e discutiu todos os aspectos referentes a esta questão que envolve as atividades de biobanco e de biorrepositórios. Como produto deste trabalho é apresentada a Normativa Institucional.

  8. Fenilcetonúria no sistema único de saúde : avaliação de adesão ao tratamento em um centro de atendimento do Rio Grande do Sul

    Nalin, Tatiéle; Perry, Ingrid Dalira Schweigert; Refosco, Lilia Farret; Netto, Cristina Brinckmann Oliveira; Souza, Carolina Fischinger Moura de; Vieira, Tatiane Alves; Picon, Paulo Dornelles; Schwartz, Ida Vanessa Doederlein
    Introdução: Fenilcetonúria (PKU) é um erro inato do metabolismo no qual ocorre um aumento dos níveis séricos do aminoácido fenilalanina. Objetivo: O presente estudo teve como objetivo avaliar a adesão ao tratamento de pacientes com PKU atendidos em um centro de referência do Rio Grande do Sul. Métodos: Estudo transversal de pacientes com PKU atendidos no ambulatório do Serviço de Genética Médica do Hospital de Clínicas de Porto Alegre, Brasil. Os parâmetros de adesão considerados foram a mediana de fenilalanina plasmática no último ano (critério 1); o consumo de fenilalanina (critério 2); o consumo de fórmula metabólica (critério 3); e...

  9. O prêmio nobel de fisiologia e medicina de 2009 : o papel dos telômeros e da telomerase na manutenção dos cromossomos

    Jardim, Laura Bannach; Prolla, Patrícia Ashton; Maluf, Sharbel Weidner
    Resumo não disponível

  10. Different intensities of treadmill running exercise do not alter melatonin levels in rats

    Siqueira, Ionara Rodrigues; Moysés, Felipe dos Santos; Medeiros, Liciane Fernandes; Elsner, Viviane Rostirolla; Farias, Christianne; Torres, Iraci Lucena da Silva
    Background: Regular and moderate exercise has been considered an interesting neuroprotective strategy. Our research group demonstrated that a protocol of moderate exercise on a treadmill reduced, while a protocol of high-intensity exercise increased in vitro ischemic cell damage in Wistar rats. The molecular mechanisms by which physical exercise exerts neuroprotective effects remain unclear. Accumulating evidence suggests that exercise may have short- and long-term effects on melatonin secretion in humans. Melatonin, the main product of the pineal gland, has been shown to have neuroprotective effects in models of brain and spinal cord injury and cerebral ischemia. A dual modulation of melatonin...

  11. Estimação da probabilidade de mutação germinativa através da história familiar

    Schneider, Silvana; Giacomazzi, Juliana; Prolla, Patrícia Ashton; Camey, Suzi Alves
    Introdução: Cerca de 10% de todos os tumores são primariamente causados por mutações germinativas de alta penetrância em genes de predisposição ao câncer. Indivíduos portadores dessas mutações têm risco significativamente maior de desenvolver câncer que não portadores e estratégias de redução de risco podem ser implementadas se estas pessoas forem identificadas. Essa identificação pode ser feita pela estimativa da probabilidade de mutação através da história pessoal e familiar do probando. Objetivo: Descrever um dos métodos utilizados para estimar a probabilidade de um indivíduo ser portador ou não de uma mutação germinativa em dois genes associados a uma determinada doença mendeliana,...

  12. Proprioceptive deficits in Parkinson’s disease : from clinical data to animal experimentation

    Santos, Letícia Ribeiro da Silva dos; Souza, Tadeu Mello e; Araujo, Lisiane Bizarro; Oliveira Junior, Alcyr Alves de
    Parkinson’s disease (PD) is characterized by the manifestation of akinesia, slowness to initiate movement, muscle rigidity, and tremors. However, recent evidence indicates that this pathology also causes alterations in proprioception. Disturbances in proprioceptive mechanisms directly affect postural control and the ability to calculate the velocity and amplitude of movement, suggesting that these alterations are related to the motor symptoms of PD. This article reviews the clinical data on these symptoms and presents evidence of a connection between proprioceptive deficits and the physiology of PD. The identification of proprioceptive impairments in different forms of Parkinsonism can provide valuable clues on the...

  13. Access to treatment for phenylketonuria by judicial means in Rio Grande do Sul, Brazil


    Treatment of phenylketonuria (PKU) includes the use of a metabolic formula which should be provided free of charge by the Unified Health System (SUS). This retrospective, observational study sought to characterize judicial channels to obtain PKU treatment in Rio Grande do Sul (RS), Brazil. Lawsuits filed between 2001– 2010 and having as beneficiaries PKU patients requesting treatment for the disease were included. Of 20 lawsuits filed, corresponding to 16.8% of RS patients with PKU, 19 were retrieved for analysis. Of these, only two sought to obtain therapies other than metabolic formula. In all the other 17 cases, prior treatment requests...

  14. Access to treatment for phenylketonuria by judicial means in Rio Grande do Sul, Brazil


    Treatment of phenylketonuria (PKU) includes the use of a metabolic formula which should be provided free of charge by the Unified Health System (SUS). This retrospective, observational study sought to characterize judicial channels to obtain PKU treatment in Rio Grande do Sul (RS), Brazil. Lawsuits filed between 2001– 2010 and having as beneficiaries PKU patients requesting treatment for the disease were included. Of 20 lawsuits filed, corresponding to 16.8% of RS patients with PKU, 19 were retrieved for analysis. Of these, only two sought to obtain therapies other than metabolic formula. In all the other 17 cases, prior treatment requests...

  15. The seed bank of subtropical grasslands withcontrasting land-use history in southern Brazil

    Vieira, Mariana de Souza; Bonilha, Camila Leal; Boldrini, Ilsi Iob; Overbeck, Gerhard Ernst
    The expansion of land use for agriculture is among the main reasons for the reduction of natural grasslands around the world, and little is known about the recovery potential of original native grassland vegetation from seed banks. The aim of this study was to assess the seed bank potential of grassland areas with or without history of cultivation in southern Brazil. Specifically, we aimed at evaluating if agricultural use allowed for the persistence of species typical of natural grasslands in soil seed banks. We analyzed seed banks in two areas with a history of cultivation and in two natural grasslands....

  16. Mandibular condylar hyperplasia : diagnosis and management. Case report

    Pinto, Isabel; Fonseca, Júlio; Vinagre, Alexandra; Ângelo, David; Sanz, David; Grossmann, Eduardo
    BACKGROUND AND OBJECTIVES: Mandibular condylar hyperplasia is a disease where excessive growth of mandibular condyle, ramus and body elicits facial asymmetry. Its therapeutic management is not a consensus and, due to its complexity, is a challenge for maxillofacial surgeons and orthodontists. This study aimed at discussing clinical, diagnostic and therapeutic aspects of the management of this disease, and at explaining the role of condylectomy. CASE REPORT: Female patient, 19 years old, Caucasian, looked for maxillofacial surgeon assistance due to facial asymmetry and pain on right temporomandibular joint. Patient had no medical, gestational or family history of facial deformity, or history...

  17. Cognition and functioning in bipolar depression

    Kapczinski, Natalia Soncini; Narvaez, Joana Corrêa de Magalhães; Magalhães, Pedro Vieira da Silva; Bücker, Joana; Peuker, Ana Carolina Wolf Baldino; Loredo, Ana C.; Troiano, Federico; Czepielewski, Letícia Sanguinetti; Rosa, Adriane Ribeiro; Fries, Gabriel Rodrigo; Gama, Clarissa Severino
    Objectives: Depressive symptoms are associated with worse outcomes in patients with bipolar disorder (BD). However, scarce data are available regarding neurocognitive profiles across different areas of functioning among BD patients with moderate and severe depression. Our objective was to assess cognition and global functioning in a group of patients with bipolar depression. Methods: Data were available for 100 patients with bipolar depression (78% female) and 70 controls (64% female) paired by age and education level. Cognitive function was assessed with a neuropsychological test battery. Functioning was assessed with the Functioning Assessment Short Test. Results: In patients, severe depression was associated...

  18. Shortened telomere length in bipolar disorder : a comparison of the early and late stages of disease

    Barbé-Tuana, Florencia María; Parisi, Mariana Migliorini; Panizzutti, Bruna Schilling; Fries, Gabriel Rodrigo; Grun, Lucas Kich; Guma, Fátima Theresinha Costa Rodrigues; Kapczinski, Flávio Pereira; Berk, Michael; Gama, Clarissa Severino; Rosa, Adriane Ribeiro
    Objective: Bipolar disorder (BD) has been associated with increased rates of age-related diseases, such as type II diabetes, metabolic syndrome, osteoporosis, and cardiovascular disorders. Several biological findings have been associated with age-related disorders, including increased oxidative stress, inflammation, and telomere shortening. The objective of this study was to compare telomere length among participants with BD at early and late stages and age- and gender-matched healthy controls. Methods: Twenty-six euthymic subjects with BD and 34 healthy controls were recruited. Genomic DNA was extracted from peripheral blood and mean telomere length was measured using real-time quantitative polymerase chain reaction. Results: Telomere length...

  19. Internacionalização da produção científica brasileira : políticas, estratégias e medidas de avaliação

    Santin, Dirce Maria; Vanz, Samile Andrea de Souza; Stumpf, Ida Regina Chitto
    A internacionalização da produção científica tem reflexos significativos na ciência contemporânea e na inserção internacional dos países em desenvolvimento. Apesar dos esforços empreendidos pelo Brasil nas últimas décadas, a produção científica nacional ainda enfrenta entraves em relação ao alcance e ao impacto internacional das publicações. Este artigo aborda as políticas e as estratégias voltadas à internacionalização da produção científica brasileira e apresenta algumas medidas de avaliação. A internacionalização da produção é discutida com base nos aspectos difusão, colaboração e impacto internacional, com vistas a refletir sobre as possibilidades de ampliar a projeção da ciência brasileira no meio científico internacional.

  20. Structure of bird communities in eucalyptus plantations : nestedness as a pattern of species distribution

    Jacoboski, Lucilene Inês; Lima, André Mendonça; Hartz, Sandra Maria
    Replacement of native habitats by tree plantations has increased dramatically in Brazil, resulting in loss of structural components for birds, such as appropriate substrates for foraging and nesting. Tree plantations can also reduce faunal richness and change the composition of bird species. This study evaluated the structure of avian communities in eucalyptus plantations of different ages and in a native forest. We classified species as habitat specialists or generalists, and assessed if the species found in eucalyptus plantations are a subset of the species that occur in the native forest. Forty-one sampling sites were evaluated, with three point counts each,...

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