RESUMO
No disponible
Assuntos
Humanos , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Anemia Falciforme , Doenças Raras , Triagem Neonatal , Anemia Falciforme/história , Espanha , Hemoglobina FalciformeRESUMO
No disponible
Assuntos
Humanos , Criança , Cuidados Críticos , Pediatria , Anemia Falciforme/complicações , Anemia Falciforme/história , Epidemiologia Descritiva , Estudos Retrospectivos , 29161Assuntos
Anemia Falciforme , Hidroxiureia , National Institute of Diabetes and Digestive and Kidney Diseases (U.S.)/história , Anemia Falciforme/tratamento farmacológico , Anemia Falciforme/história , História do Século XX , História do Século XXI , Humanos , Hidroxiureia/história , Hidroxiureia/uso terapêutico , Retratos como Assunto , Estados UnidosRESUMO
70 years ago, Linus Pauling, the legendary genius of 20th century chemistry, published his famous work on the molecular cause of sickle cell disease, a paper that gave birth to what is now called molecular medicine. In this paper, Pauling left important questions unanswered that have motivated an enormous amount of scientific and clinical research since then. This retrospective discusses the basic science studies that have answered those questions directly related to the kinetics and thermodynamics of hemoglobin S polymerization.
Assuntos
Anemia Falciforme , Hemoglobina Falciforme , Polimerização , Anemia Falciforme/história , Anemia Falciforme/metabolismo , Anemia Falciforme/patologia , Hemoglobina Falciforme/história , Hemoglobina Falciforme/metabolismo , História do Século XX , Humanos , Publicações Periódicas como Assunto/históriaRESUMO
This paper investigates continuities and changes in the definition of sickle cell disease in 1950s Brazil, taking into account that diseases have a history and are recognized as such according to the knowledge and perceptions available in a certain historical period and specific location. In the post-war era, new diagnostic tools, inheritance theories and, in particular, discussions on the concepts of race and racial relations, both nationally and internationally, were changing previous racialist and racist views. Nonetheless, the Brazilian medical interpretations of sickle cell disease continued to racialize it and even use deep-rooted racist formulations to explain its symptoms or the existence of the disease. It is argued that the celebration of racial mixture and racial democracy might have concealed racist presumptions biasing the study of sickle cell disease. Although race as a biological concept gradually gave way to other genetic expressions, in Brazilian medical papers on sickle cell disease, race continued to influence the interpretation of the disease, along with the persistence of concepts of heredity through blood mixture.
Assuntos
Anemia Falciforme/história , Relações Raciais/história , Anemia Falciforme/diagnóstico , Anemia Falciforme/etiologia , Brasil , História do Século XX , Humanos , Racismo/históriaAssuntos
Anemia Falciforme/história , Deficiência de Glucosefosfato Desidrogenase/história , Glucosefosfato Desidrogenase/sangue , Pediatria/história , Publicações Periódicas como Assunto/história , Anemia Falciforme/sangue , Anemia Falciforme/etiologia , Biomarcadores/sangue , Criança , Deficiência de Glucosefosfato Desidrogenase/sangue , Deficiência de Glucosefosfato Desidrogenase/complicações , História do Século XX , Humanos , Estados UnidosRESUMO
In 1910, James Bryan Herrick published the first clinical and laboratory description of sickle cell anemia. Two years later, he published a case report on coronary thrombosis. Together, these case reports solidified his reputation as one of the premier diagnosticians of his generation. Now regarded as a central figure in the history of American medicine, Herrick played an integral role in the clinical adoption of the electrocardiograph and the professionalization of cardiology in the United States. Although a full decade passed before the medical profession recognized his clinical description of coronary thrombosis and myocardial infarction, it has had profound implications for cardiovascular medicine and prevention over the past hundred years. As a consultant physician, Herrick advocated in favor of incorporating chemistry and laboratory evaluation into clinical practice.
Assuntos
Anemia Falciforme/história , Cardiologistas/história , Cardiologia/história , Consultores/história , Trombose Coronária/história , Anemia Falciforme/diagnóstico , Trombose Coronária/diagnóstico , Eletrocardiografia/história , Eletrocardiografia/estatística & dados numéricos , História do Século XIX , História do Século XX , Infarto do Miocárdio/diagnóstico , Infarto do Miocárdio/históriaRESUMO
Once a fatal disease of childhood, more than 95% of patients born today with sickle cell disease (SCD) in developed countries are expected to survive into adulthood, largely because of improvements in supportive and preventive care (newborn screening, penicillin prophylaxis, transcranial Doppler (TCD) screening). Hydroxyurea (HU) therapy, the only oral medication currently available to prevent SCD complications, has become more widespread over the past 20 y. The NHLBI recommends that HU be offered to all patients with HbSS beginning at 9 mo of age, and the recently published Abnormal TCD with Transfusions Changing to HU (TWiTCH) trial has shown HU as an acceptable alternative to transfusion therapy for patients at high risk of stroke. While hematopoietic stem cell transplant (HSCT) is a curative option for SCD, less than 25% of patients have a suitable donor. Alternative stem cell sources from unrelated donors and haplo-identical donors are currently under investigation as are gene therapy trials. This review will focus on early efforts to elucidate SCD pathophysiology as well as supportive and preventive care improvements. Findings from recent multi-center studies (Silent Infarct Transfusion (SIT) Trial and TWiTCH) will be summarized. Finally, HSCT trials and gene therapy will be reviewed.
