RESUMO
Clinical disorders have intrigued the human mind for thousands of years. Many are enshrined in history as 'medical curiosities'. This report is a tribute to one of the greatest minds of modern genetics and medicine, Sir Archibald Edward Garrod (1857--1936), who brought forward the scientific study of inborn errors of metabolism. Garrod's concept of 'chemical individuality' with no awareness of 'genes' more than 100 years ago is an amazing example of futuristic thinking. His own words reflect this, 'Owing, as I believe, to their chemical individuality different human beings differ widely in their liability to individual maladies, and to some extent in the signs and symptoms which they exhibit'. The concept of chemical individuality is here to stay. Garrod has also provided insight into a number of scientific concepts and modern thinking.
Assuntos
Erros Inatos do Metabolismo/história , Biologia Molecular/história , Alcaptonúria/história , Inglaterra , História do Século XIX , História do Século XX , Humanos , Erros Inatos do Metabolismo/genéticaRESUMO
Two patients with angioimmunoblastic lymphadenopathy (AIL) in whom the disease process involved the lungs are reported. One patient died in respiratory failure. Details of the radiologic appearance, abnormalities of lung function and lung histology are presented together with response to steroid therapy in one patient. Life-threatening involvement of the lung parenchyma can be a mode of presentation of the disease and can contribute to the morbidity and mortality of the disorder.