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.
Adenine ; Blindness ; DNA, Mitochondrial* ; Guanine ; Humans ; Male ; Middle Aged ; Optic Atrophy, Hereditary, Leber ; Optic Nerve Diseases ; Point Mutation*

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.
Acetylcholine ; Diagnosis* ; Edrophonium ; Humans ; Muscles ; Myasthenia Gravis*

BACKGROUND: Cathepsin D, an aspartic lysosomal proteinase, is believed to be involved in local invasion and metastasis of tumor cells by its proteolytic activity and has been described to be associated with tumor progression and prognosis in some human malignancies including breast cancer. But, its prognostic value for human lung cancer remains to be determined. The purpose of this study is to determine clinicopathological and prognostic significance of cathepsin D expression in non-small cell lung cancer. METHOD: Using a polyclonal antibody, immunohistochemical analysis of cathepsin D was performed on paraffin embedded sections of tumors obtained surgically from 54 patients with non-small cell lung cancer (37 squamous cell carcinoma, 14 adenocarcinoma, 2 large cell carcinoma, and 1 undifferentiated carcinoma). RESULTS: Eighteen patients (33.3%) showed positive immunoreactivities of cathepsin D in tumor cells. No significant correlation of cathepsin D expression in tumor cells was found in p-stage (surgical-pathologic stage), tumor size, tumor factor, nodal involvement, and differentiation. Of 54 patients, 29 (53.7%) patients showed moderate to massive cathepsin D-positive stromal cells within the tumor tissues, while the rest (46.3%) showed few cathepsin D-positive stromal cells within the tumor tissues. Cathepsin D expression n stromal cells was significantly associated with p-stage in non-small cell lung cancer (p=0.031). No significant correlation of the degree of cathepsin D-positive stromal cells was found in tumor size, T-factor, nodal involvement, differentiation. Cathepsin D expression status in tumor cells and stromal cells was not significantly associated with prognosis expressed by survival rate. The results of multivariate analyses of variables possibly associated with progonosis showed that nodal involvement was the only independent prognostic factor in all patients. CONCLUSION: Cathepsin D expression in stromal cells was significantly associated with p-stage in non-small cell lung cancer. However, it was not related to other clinicopathologic features and prognosis, and Cathepsin D expression in tumor was not related to p-stage and prognosis.
Adenocarcinoma ; Breast Neoplasms ; Carcinoma, Large Cell ; Carcinoma, Non-Small-Cell Lung* ; Carcinoma, Squamous Cell ; Cathepsin D* ; Cathepsins* ; Humans ; Lung Neoplasms ; Multivariate Analysis ; Neoplasm Metastasis ; Paraffin ; Prognosis* ; Stromal Cells ; Survival Rate

OBJECTIVE: To evaluate the recent trend of indication for pregnancy termination. METHOD: From 1993 to 2000, 1,087 cases of termination out of 61,842 cases of deliveries in Samsung cheil hospital were analyzed. We reviewed retrospectively the data-base and charts of delivery, and analyzed the indication for pregnancy termination. RESULTS: Among 61,842 cases of deliveries, indications of pregnancy termination were fetal structure anomalies in 399 cases (0.7%), IUFD in 261 cases (0.4%), PROM in 215 cases (0.4%), chromosomal anomalies in 138 cases (0.2%), anhydroamnios in 32 cases (0.05%), rubella infection of mother or fetus in 24 cases (0.04%), and others in 20 cases (0.03%). Autopsy was performed in 242 cases of fetal anomalies (60.7%), 116 cases of UIFD (44%), and 59 cases of fetal chromosomal abnormalities (43%). The cases of chromosomal anomaly as indication of termination increased and rubella infection of mother or fetus decreased recently, and it is statistically significant r=0.95(P=0.00) and r=-0.73(P=0.04). The fetal weight terminated due to PROM is significantly decreased (Y=517-26 x year P=0.002). CONCLUSION: The indications of termination for fetal chromosomal abnormalities were increased, but for rubella infections were decreased. In cases of PROM, the terminated fetal weight were significantly decreased. However, no change was observed in cases of fetal anomaly, IUFD,and PROM.
Autopsy ; Chromosome Aberrations ; Fetal Weight ; Fetus ; Humans ; Mothers ; Pregnancy ; Retrospective Studies ; Rubella