Thursday, February 14, 2008

eponyms in medicine - part 9

81 - Ruffini’s corpuscles is sensory receptors for heat.

82 - Corrigan’s pulse is in aortic regurgitation - pulses are of the water-hammer or collapsing type with abrupt distension and quick collapse - can be exaggerated by raising the patient’s arm.

83 - Jolly test is in myasthenia gravis - a sequence of repetitive nerve stimulation (RNS) studies specifically designed to look for neuromuscular junction disease. A positive test is a >10% decremental response with 3 Hz repetitive stimulation - 50-80% sensitive. After Friedrich Jolly - German neurologist - 1844-1904.

84 - Kocher’s test is compression of lateral lobes of thyroid causing stridor; associated with thyroid carcinoma - goiter - or thyroiditis.

85 - Lieberkühn - crypts of is intestinal glands found between villi.

86 - Werdnig-Hoffman syndrome is spinal muscular atrophy type I - autosomal recessive lower motor neuron disease - survival motor neuron protein affected (linked to 5q11.2-13.3) - presents between birth and 6 months of age - death before 2 y.o.

87 - Blau’s syndrome is granulomatous synovitis - non granulomatous uveitis - cranial neuropathies; resembles childhood sarcoidosis; no lung involvement; associated with mutations in NOD2/CARD15 gene; first described in 1985.

88 - Conradi-Hunermann syndrome is chondrodysplasia punctata - characterized by stippled epiphyses from abnormal accumulation of calcium salts and skeletal changes.

89 - Biette’s collarette is in syphilis - a thin white ring of scales on the surface of a lesion.

90 - Marjolin's ulcer is squamous cell carcinoma ulceration overlying chronic osteomyelitis or burn scar.

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