Assuntos
Hiperuricemia/etiologia , Hiperuricemia/história , Síndrome de Lesch-Nyhan/diagnóstico , Síndrome de Lesch-Nyhan/história , Automutilação/etiologia , Automutilação/história , Marcadores Genéticos , História do Século XX , História do Século XXI , Humanos , Síndrome de Lesch-Nyhan/fisiopatologia , Fenótipo , Prognóstico , Índice de Gravidade de DoençaRESUMO
Retrospective diagnosis of illness in historical figures is a popular but somewhat unreliable pastime due to the lack of detailed information and reliable reports about clinical features and disease progression. Modern computer-based diagnostic programmes have been used to supplement historical documents and accounts, offering new and more objective approaches to the retrospective investigations of the medical conditions of historical persons. In the case of King George III, modern technology has been used to strengthen the findings of previous reports rejecting the popular diagnosis of variegate porphyria in the King, his grandson Augustus d'Esté and his antecedent King James VI and I. Alternative diagnoses based on these programmes are indicated. The Operational Criteria in Studies of Psychotic Illness (OPCRIT) programme and the Young mania scale have been applied to the features described for George III and suggest a diagnosis of bipolar disorder. The neuro-diagnostic programme SimulConsult was applied to Augustus d'Esté and suggests a diagnosis of neuromyelitis optica rather than acute porphyria with secondarily multiple sclerosis, as proposed by others. James VI and I's complex medical history and the clinical features of his behavioural traits were also subjected to SimulConsult analysis; acute porphyria was rejected and the unexpected diagnosis of attenuated (mild) Lesch-Nyhan disease offered. A brief review of these approaches along with full reference listings to the methodology including validation are provided. Textual analysis of the written and verbal outputs of historical figures indicate possible future developments in the diagnosis of medical disorders in historical figures.
Assuntos
Transtorno Bipolar/diagnóstico , Diagnóstico por Computador , Pessoas Famosas , Síndrome de Lesch-Nyhan/diagnóstico , Esclerose Múltipla/diagnóstico , Neuromielite Óptica/diagnóstico , Porfirias Hepáticas/diagnóstico , Transtorno Bipolar/genética , Transtorno Bipolar/história , Inglaterra , História do Século XVI , História do Século XVII , História do Século XVIII , História do Século XIX , Humanos , Síndrome de Lesch-Nyhan/genética , Síndrome de Lesch-Nyhan/história , Esclerose Múltipla/genética , Esclerose Múltipla/história , Neuromielite Óptica/genética , Neuromielite Óptica/história , Porfirias Hepáticas/genética , Porfirias Hepáticas/história , Estudos RetrospectivosAssuntos
Estimulação Encefálica Profunda/história , Estimulação Encefálica Profunda/estatística & dados numéricos , Síndrome de Lesch-Nyhan , Serviços Comunitários de Saúde Mental/métodos , Estimulação Encefálica Profunda/métodos , Estimulação Encefálica Profunda/psicologia , Estimulação Encefálica Profunda/tendências , Doenças Genéticas Ligadas ao Cromossomo X/etiologia , História do Século XX , História do Século XXI , Humanos , Japão , Síndrome de Lesch-Nyhan/induzido quimicamente , Síndrome de Lesch-Nyhan/complicações , Síndrome de Lesch-Nyhan/congênito , Síndrome de Lesch-Nyhan/diagnóstico , Síndrome de Lesch-Nyhan/etiologia , Síndrome de Lesch-Nyhan/genética , Síndrome de Lesch-Nyhan/história , Síndrome de Lesch-Nyhan/mortalidade , Síndrome de Lesch-Nyhan/patologia , Síndrome de Lesch-Nyhan/psicologia , Síndrome de Lesch-Nyhan/reabilitação , Síndrome de Lesch-Nyhan/cirurgia , Síndrome de Lesch-Nyhan/terapia , Síndrome de Lesch-Nyhan/urina , Masculino , Comportamento Autodestrutivo/etiologia , Comportamento Autodestrutivo/genética , Comportamento Autodestrutivo/história , Estados UnidosRESUMO
The first description of Lesch-Nyhan disease was in 1964; the first two patients were seen in 1963. The disease has caught the imagination of a variety of clinicians and scientists. The clinical picture is striking, combining spasticity, involuntary movements, and cognitive retardation with self-injurious behavior and the manifestations of gout. Biochemically, the overproduction of uric acid--the end product of purine metabolism--was, when measured, the largest ever seen. The disease is now well understood on a molecular basis. Enzyme analysis and mutational analysis have made available a full range of genetic testing, including diagnosis, carrier detection, and prenatal diagnosis. Therapy with allopurinol has been effective for those manifestations the disease shares with gout. Treatment for the neurological and behavioral features of the disease remains elusive.
