RESUMO
Os Lobi, uma etnia de Burkina Faso caracterizada por uma estrutura social estável e bem desenvolvida, tem como principal manifestação religiosa e estética a criação de uma estatuária extremamente expressiva, pois incorporaria os espíritos dos seus ancestrais e a própria memória histórica de seu povo. A rara estátua dupla analisada recorre a uma forma de expressão comum a muitas culturas do passado, a fusão de diferentes personagens, mas aqui alcança níveis de intensidade na expressão e na tensão psíquica raramente observados nas artes de culturas primordiais.
The Lobi, an etnie of Burkina Faso characterized by a stable and well developed social structure has as its main religious and esthetic manifestation the creation an extremely expressive statuary once that it incorporates the spirits of their ancestrals and the historical memory of their own people. A rare double statue, analyzed here, resorts to a form of expression common to many past cultures, the fusion of different personages, but which, however, reaches here levels of intensity in expressivity and psiquic tension rarely observed in the arts of primordial cultures.
Assuntos
Humanos , ArteRESUMO
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG). Accumulation of GAG in various organs and tissues in MPS patients results in a series of signs and symptoms, producing a multisystemic condition affecting bones and joints, the respiratory and cardiovascular systems and many other organs and tissues, including in some cases, cognitive performance. So far, eleven enzyme defects that cause seven different types of MPS have been identified. Before introduction of therapies to restore deficient enzyme activity, treatment of MPS focused primarily on prevention and care of complications, still a very important aspect in the management of these patients. In the 80's treatment of MPS with bone marrow transplantation/hematopoietic stem cells transplantation (BMT/HSCT) was proposed and in the 90's, enzyme replacement therapy (ERT),began to be developed and was approved for clinical use in MPS I, II and VI in the first decade of the 21st century. The authors of this paper are convinced that a better future for patients affected by mucopolysaccharidoses depends upon identifying, understanding and appropriately managing the multisystemic manifestations of these diseases. This includes the provision of support measures (which should be part of regular multidisciplinary care of these patients) and of specific therapies. Although inhibition of synthesis of GAG and the recovery of enzyme activity with small molecules also may play a role in the management of MPS, the breakthrough is the currently available intravenous ERT. ERT radically changed the setting for treatment of mucopolysaccharidosis I, II and VI in the last decade., Benefits can even be extended soon to MPS IV A (ERT for this condition is already in clinical development), with prediction for treatment of MPS III A and the cognitive deficit in MPS II by administration of the enzyme directly into the central nervous system (CNS). A large number of Brazilian services, from all regions of the country, already have experience with ERT for MPS I, II and VI. This experience was gained not only by treating patients but also with the participation of some groups in clinical trials involving ERT for these conditions. Summing up the three types of MPS, more than 250 patients have already been treated with ERT in Brazil. The experience of professionals coupled to the data available in international literature, allowed us to elaborate this document, produced with the goal of bringing together and harmonize the information available for the treatment of these severe and progressive diseases, which, fortunately, are now treatable, a situation which bring new perspectives for Brazilian patients, affected by these conditions.
Assuntos
Terapia de Reposição de Enzimas/métodos , Mucopolissacaridoses/tratamento farmacológico , Brasil , Terapia de Reposição de Enzimas/estatística & dados numéricos , Humanos , Mucopolissacaridoses/classificação , Guias de Prática Clínica como AssuntoRESUMO
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.
RESUMO
As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos pacientes afetados pelas MPS resulta em uma série de sinais e sintomas, integrantes de um quadro clínico multissistêmico que compromete ossos e articulações, vias respiratórias, sistema cardiovascular e muitos outros órgãos e tecidos, incluindo, em alguns casos, as funções cognitivas. Já foram identificados 11 defeitos enzimáticos que causam sete tipos diferentes de MPS. Antes do advento de terapias dirigidas para a restauração da atividade da enzima deficiente, o tratamento das MPS tinha como principal foco a prevenção e o cuidado das complicações, aspecto ainda bastante importante no manejo desses pacientes. Na década de 80 foi proposto o tratamento das MPS com transplante de medula óssea/transplante de células tronco hematopoiéticas (TMO/TCTH) e na década de 90 começou o desenvolvimento da Terapia de Reposição Enzimática (TRE), que se tornou uma realidade aprovada para uso clínico nas MPS I, II e VI na primeira década do século 21. Os autores deste trabalho têm a convicção de que um melhor futuro para os pacientes afetados pelas MPS depende da identificação, compreensão e manejo adequado das manifestações multissistêmicas dessas doenças, incluindo medidas de suporte (que devem fazer parte da assistência multidisciplinar regular destes pacientes) e terapias específicas...
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG). Accumulation of GAG in various organs and tissues in MPS patients results in a series of signs and symptoms, producing a multisystemic condition affecting bones and joints, the respiratory and cardiovascular systems and many other organs and tissues, including in some cases, cognitive performance. So far, eleven enzyme defects that cause seven different types of MPS have been identified. Before introduction of therapies to restore deficient enzyme activity, treatment of MPS focused primnarily on prevention and care of complications, still a very important aspect in the management of these patients. In the 80's treatment of MPS with bone marrow transplantation/hematopoietic stem cells transplantation (BMT/HSCT) was proposed and in the 90's, enzyme replacement therapy (ERT),began to be developed and was approved for clinical use in MPS I, II and VI in the first decade of the 21st century. The authors of this paper are convinced that a better future for patients affected by mucopolysaccharidoses depends upon identifying, understanding and appropriately managing the multisystemic manifestations of these diseases. This includes the provision of support measures (which should be part of regular multidisciplinary care of these patients) and of specific therapies...
Assuntos
Humanos , Terapia de Reposição de Enzimas/métodos , Mucopolissacaridoses/tratamento farmacológico , Brasil , Terapia de Reposição de Enzimas , Mucopolissacaridoses/classificação , Guias de Prática Clínica como AssuntoRESUMO
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.
Assuntos
Terapia de Reposição de Enzimas , Glicosaminoglicanos , Mucopolissacaridose VI , Política NutricionalAssuntos
Doença de Fabry/diagnóstico , Doença de Fabry/terapia , Adulto , Fatores Etários , Brasil , Estudos de Coortes , Doença de Fabry/etiologia , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Guias de Prática Clínica como Assunto , Fatores Sexuais , Resultado do Tratamento , alfa-Galactosidase/genética , alfa-Galactosidase/metabolismoRESUMO
Because of the restricted intake of high-biologic-value protein, children with phenylketonuria (PKU) may have lower than normal plasma concentrations of copper, zinc, and selenium. The purpose of the present study was to investigate erythrocyte zinc levels and serum copper and selenium levels in children and adolescents with PKU by analyzing the relation between their diet and the laboratory profiles of these elements. The study was conducted in 32 children and adolescents with PKU, who were on a special diet. Dietary records and blood samples were collected from each subject. Erythrocyte zinc and serum selenium levels were below normal in 37.5% and 90.6% of the subjects, respectively. Plasma copper levels were normal. Metabolic formulas were the only source of 86.9% of the zinc, 65.6% of the copper, and 32.4% of the selenium. Despite this, there was no significant correlation between the zinc formula supply and erythrocyte zinc levels (rho = -0.143, P = .435) or the supply and serum levels for copper (rho = -0.117, P = .523) and selenium (rho = 0.113, P = .538). These results suggest that Brazilian patients with PKU present with low ingestion levels, low serum selenium levels, and low erythrocyte zinc levels.
Assuntos
Eritrócitos/química , Estado Nutricional , Fenilcetonúrias/sangue , Selênio/sangue , Zinco/sangue , Adolescente , Brasil , Criança , Fenômenos Fisiológicos da Nutrição Infantil/fisiologia , Pré-Escolar , Cobre/sangue , Estudos Transversais , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Política Nutricional , Necessidades Nutricionais , Fenilcetonúrias/dietoterapia , Adulto JovemRESUMO
OBJETIVOS: descrever e avaliar o perfil do Programa de Triagem Neonatal baiano em 2003. MÉTODOS: estudo descritivo baseado no banco de dados do Serviço de Referência de Triagem Neonatal baiano com todos os recém-nascidos que realizaram a triagem na rede de coleta do Estado em 2003. RESULTADOS: observou-se implantação do programa em 94,5 por cento dos municípios. A média mensal de testados foi de 13.991 (72,51 por cento dos recém-nascidos registrados). Na coleta, 63,9 por cento das crianças estavam com idade entre oito dias e um mês, 14,5 por cento com até sete dias e 21,6 por cento com mais de um mês. A incidência observada foi de 1:22.000 para fenilcetonúria, 1:4.000 para o hipotireoidismo congênito e 1:650 para as hemoglobinopatias. CONCLUSÕES: o Programa de Triagem Neonatal baiano mostrou, em 2003, dificuldades quanto a cobertura preconizada em 100 por cento; a faixa etária ideal para realização da coleta; ao tempo entre a coleta e a chegada das amostras ao Serviço de Referência em Triagem Neonatal; ao tempo de entrega dos resultados à família; e ao tempo de reconvocação dos casos positivos. Assim, são necessárias algumas melhorias para agilizar esses processos.
Assuntos
Humanos , Recém-Nascido , Coleta de Amostras Sanguíneas , Triagem Neonatal , Avaliação de Programas e Projetos de Saúde , Planos e Programas de Saúde , Recém-Nascido/sangue , Hemoglobinopatias , Hipotireoidismo , FenilcetonúriasRESUMO
Dois casos de s¡ndrome de Proteus são descritos para ilustrar as caracter¡sticas diagn¢sticas e os problemas ortopédicos associados a esta enfermidade rara. Revisão de literatura foi realizada para melhor compreensão da etiologia, apresentaçães cl¡nicas, diagn¢stico e tratamento.