RESUMO
KIE: Albinism, a recessive genetic condition, can be diagnosed by fetoscopy between the 16th and 20th weeks of pregnancy, in time for subsequent abortion. Taylor, president of The Albino Fellowship, considers whether the disabilities of albinism justify abortion of an albino fetus. He discusses the skin and eye problems associated with albinism and how they can be prevented, treated, or compensated for. In temperate climates this can be easily done. In tropical climates, the alleviation of the disabilities of albinism would be unavailable to the poor, as would be prenatal diagnosis. The wealthy who could afford prenatal diagnosis could also cope with the disabilities. The author concludes that, for parents of albino children, many of whom choose not to risk the 25% chance of albinism in future pregnancies, prenatal diagnosis and selective abortion would be a welcome option. However, he urges that adequate counseling be provided before a decision is made.^ieng
Assuntos
Albinismo/diagnóstico , Doenças Genéticas Inatas , Diagnóstico Pré-Natal , Albinismo/fisiopatologia , Clima , Potenciais Evocados Visuais , Feminino , Fetoscopia , Aconselhamento Genético , Cabelo/análise , Humanos , Internacionalidade , Melaninas/análise , Gravidez , Medição de RiscoRESUMO
5-S-cysteinyldopa concentrations were determined by high-pressure liquid chromatography and electrochemical detection in plasma from normally pigmented patients and patients with oculocutaneous albinism, both tyrosinase-positive and tyrosinase-negative. The plasma 5-S-cysteinyldopa concentrations were similar in all three groups, suggesting that 5-S-cysteinyldopa can be produced by mechanisms which do not involve tyrosinase.
Assuntos
Albinismo/sangue , Cisteinildopa/sangue , Di-Hidroxifenilalanina/análogos & derivados , Albinismo/classificação , Albinismo/metabolismo , Animais , Cromatografia Líquida de Alta Pressão , Cisteinildopa/biossíntese , Eletroquímica , Feminino , Humanos , Masculino , Melaninas/metabolismo , Camundongos , Monofenol Mono-Oxigenase/metabolismo , RatosRESUMO
I shall discuss the nature of the sensation of colour and the reason for our colour vision, leading on to the existence of defects in that sense. I will consider the different kinds of such defects and the arguments for the use of particular tests in varying circumstances. I report the result of a recent survey of the value of a careers advisory service for "colour blind" school children seen between 1965 and 1977 (primarily red-green blind). This leads to examples of the value of these tests in genetics, and in the early diagnosis of disease or toxicity. I shall also describe the various modifications I have made to the 100-hue test, with its eventual automation both for computation and recording. Finally, the recommendations I make for future progress cover routine examination, both on starting primary education and on entering secondary education, analysis of the colour task at work, and the adoption of an enlightened system of colour coding.