Roles | Examples |
Describe a new phenotype or genotype of disease | The first case report of sickle cell disease.1 |
Recognise a known or common manifestation of a rare disease | Liver cirrhosis as a result of Sitosterolaemia.33 |
Recognise a rare manifestation of a known or common disease | Secretory diarrhoea and hypokalaemia in colonic pseudo-obstruction.15 |
Describe a new pathogen (microbe, virus or environmental exposure) | Discovery of AIDS was an observation of a patient with immunodeficiency-related diseases who otherwise had no reason to be immunodeficient.34 |
Describe unknown adverse effect of an existing drug | Reye syndrome and aspirin in children.35 Thalidomide and malformation of the limbs in pregnant women.36 |
Describe a novel treatment for a known condition | Colchicine for the treatment of familial Mediterranean fever.37 |
Elucidate mechanisms of disease | Functional imaging of the brain during auditory hallucinations.38 |
To remind or educate | Case presentations in clinicopathological conferences for postgraduate education. |
Quality improvement | ‘Lesson of the week’ published in the British Medical Journal (do not make the same mistake as I did). |