A Case of Leber's Hereditary Optic Nouropathy Showing 11778 Point Mutation of Mitochondrial DNA / 영남의대학술지

Leber's hereditary optic neuropathy(LHON) is an optic nerve disease that causes blindness and is associated with maternally inherited mitochondrial DNA(mt DNA) mutations. The most common mitochondrial DNA mutation among LHON patients is a point mutation at the nucleotide 11778 in the subunit 4 of complex I. In one 45-year old male LHON patient with bilateral optic neuropathy, we investigated the presence of a point mutation of mitochondrial DNA and identified a single guanine to adenine transition mutation in the mitochondrial DNA at nucleotide point 11778.

Comparison of Usefulness of Laboratory Tests in Diagnosis of Myasthenia Gravis / 영남의대학술지

PURPOSE: This study was undertaken to evaluate the clinical usefulness of Tensilon test, repetitive nerve stimulation test(RNST), single fiber EMG(SFEMG) test and acetylcholine receptor antibody(AchR Ab) assay for making diagnosis of myasthenia gravis(MG). METHOD: These tests were performed in 21 MG patients which were classified into 11 ocular, 5 mild generalized, 4 moderate generalized, and 1 chronic severe MG. RESULT: The overall positivity of Tensilon test, SFEMG and AchR Ab was 95%, 87%, and 76% respectively. The overall positivity of RNST was 67%; 38% on flexor carpi ulnaris, 43% on adductor digiti quinti and 62% on orbicularis oculi muscles. The positivity of each test was higher in generalized MG group than in ocular MG group. But we could observe the statistically significant difference only in the RNST(p<0.05). CONCLUSION: Tensilon test showed the highest positivity in all MG groups. So we would like to recommend the Tensilon test for the diagnosis of MG at first, followed by RNST and AchR Ab assay, and SFEMG would be indicated to MG group which showed relatively low postivity in other tests.