BACKGROUND/AIMS: There is considerable variance in individual susceptibility to hepato-toxic effects of ethanol as evidenced by the finding that only about 10-20% of alcoholics develop alcoholic liver cirrhosis. The aims of this study were, 1) to get the data on the genetic polymorphisms of three major ethanol-metabolizing enzymes (ADH, CYP2E1, ALDH) in normal Korean adults, and to search for the specific genotypes influencing alcohol drinking behavior by the comparison of allele frequencies between healthy control group and heavy drinker group with or without liver disease, 2) to investigate the influence of the genetic polymorphisms of these enzymes on the susceptibility to alcoholic liver disease by the comparison of allele frequencies between heavy drinker group without liver disease and alcoholic liver cirrhosis group. METHODS: Healthy control group included 53 healthy males in military service without evidence of liver disease or alcoholism. Heavy drinker group without liver cirrhosis included 29 males who had been drinking 80g or more of alcohol daily for more than ten years but did not have any clinical evidence of liver disease. Alcoholic cirrhosis group included 43 male patients who had drunk 80g or more of alcohol daily for more than ten years and had clinical evidences of overt cirrhosis. Subjects with hepatitis B surface antigen or anti-hepatitis C antibody were excluded. Genotypes of the three enzymes were determined by PCR (polymerase chain reaction) and restriction fragment length polymorphism (RFLP) with genomic DNAs extracted from peripheral leukocytes. RESULTS: 1) In healthy Korean males, allele frequency of ADH22, ADH31, CYP2E1 c2 and ALDH22 was 81%, 94%, 30% and 14%, respectively. 2) The absence of ALDH22 or CYP2E1 c2 allele were significant risk factors for being a heavy drinker (odds ratio,' 0.09, 0.42, respectively). 3) Although it was not associated with the polymorphism of each ethanol-metabolizing enzymes, the susceptibility to alcoholic liver cirrhosis was significantly associated with combined genotypes of ADH2(22) & ADH3(1+1)& CYP2E1 B or C. COMCLUSION: Genetic polymorphisms of ethanol-metabolizing enzyrnes are significantly associated with the suseptability to alcoholic liver disease as well as alcohol drinking behavior.
Adult ; Alcohol Drinking ; Alcoholics* ; Alcoholism ; Alleles ; Cytochrome P-450 CYP2E1 ; DNA ; Drinking ; Ethanol ; Fibrosis ; Gene Frequency ; Genotype ; Hepatitis B Surface Antigens ; Humans ; Leukocytes ; Liver Cirrhosis ; Liver Cirrhosis, Alcoholic* ; Liver Diseases ; Liver Diseases, Alcoholic ; Male ; Military Personnel ; Polymerase Chain Reaction ; Polymorphism, Genetic* ; Polymorphism, Restriction Fragment Length ; Risk Factors

The inhibitory effect of rice(Oryza sartiva L., illpumbyeo) against mutagenicity induced by tryptophan pyrolysates were investigated using Salmonella typhimurium reversion assay. Both methanol extracts of obtained from brown and white rice were found to possess strong activites of inhibiting the mutagenicities of 3-amino-1,4-dimethyl-5H-pyriod[4,3-b]indol(Trp-P-1) and 3-amino-1-methyl-5H-pyrido[4,3-b]indol(Trp-P-2) on Salmonella typhimurium reversion assay. As the concentration of methanol extract increased, inhibitory effect on mutagenicity increased but reached at steady state as inhibition rate of 90% when the concentration was above 10mg/plate. There was no significant difference(p>0.05) in inhibitory effect of methanol extracts between brown and white rice against tryptophan pyrolysates.
Methanol ; Salmonella typhimurium ; Tryptophan*

Five cases of intracranial lipoma diagnosed by MR are presented. MR imaging was performed on a 0.2T permanent unit using T1 weighted, proton density-weighted, and T2 weighted spin echo sequences. In two patients, gadolinium-enhanced T1 weighted image was also obtained. The lipomas were located dorsolaterally to the splenium of the corpus callosum (n=1), inferior to the splenium (n=2), in quadrigeminal plate(n=1) and in the presumed corpus callosum area in the case of agenesis of corpus call?um (n=1). The size and shape of the lipomas were variable. No contrast enhancement was seen in post contrast study. Sagittal T1 weighted image appeared to be the most useful imaging plane for the demonstration of the relationship between the lipoma ad the adjacent normal structures. The Homogenous signal intensity paralleling the fat signal and the characteristic location of the lesion are considered to be helpful in the differential diagnosis from dermoid cyst or teratoma.
Corpus Callosum ; Dermoid Cyst ; Diagnosis, Differential ; Humans ; Lipoma* ; Magnetic Resonance Imaging* ; Protons ; Teratoma

Five cases of intracranial lipoma diagnosed by MR are presented. MR imaging was performed on a 0.2T permanent unit using T1 weighted, proton density-weighted, and T2 weighted spin echo sequences. In two patients, gadolinium-enhanced T1 weighted image was also obtained. The lipomas were located dorsolaterally to the splenium of the corpus callosum (n=1), inferior to the splenium (n=2), in quadrigeminal plate(n=1) and in the presumed corpus callosum area in the case of agenesis of corpus call?um (n=1). The size and shape of the lipomas were variable. No contrast enhancement was seen in post contrast study. Sagittal T1 weighted image appeared to be the most useful imaging plane for the demonstration of the relationship between the lipoma ad the adjacent normal structures. The Homogenous signal intensity paralleling the fat signal and the characteristic location of the lesion are considered to be helpful in the differential diagnosis from dermoid cyst or teratoma.
Corpus Callosum ; Dermoid Cyst ; Diagnosis, Differential ; Humans ; Lipoma* ; Magnetic Resonance Imaging* ; Protons ; Teratoma

A rare case of hepatic metastasis with a choriocarcinomatous component from a composite adenocarcinoma and choriocarcinoma of the sigmoid colon in a 60-year-old man is reported. The hepatic metastasis displayed choriocarcinoma with extensive hemorrhagic necrosis. The tumor cells were poorly differentiated with scattered foci of bizzare syncytiotrophoblastic cells. Retrospective examination of the previous colonic carcinoma proved that the tumor was composed of two distinctive elements. One was a moderately well differentiated adenocarcinoma located in mucosa and submucosa. The other was a deep seated and undifferentiated carcinoma which was made up of hyperchromatic bizzare cells with syncytiotrophoblastic cells. There were transitional foci from adenocarcinoma to undifferentiated carcinoma with trophoblastic cells. Immunohistochemical staining showed beta-hCG expression in the undifferentiated cells of both the primary and the metastatic tumors. Implications for the possible origin and cause of tumor cell heterogeneity are briefly discussed.
Adenocarcinoma* ; Carcinoma ; Choriocarcinoma* ; Colon ; Colon, Sigmoid* ; Female ; Humans ; Middle Aged ; Mucous Membrane ; Necrosis ; Neoplasm Metastasis* ; Population Characteristics ; Pregnancy ; Retrospective Studies ; Trophoblasts

One hundred eighty-six cases of ovarian common "epithelial" tumor including 28 endometriosis were reviewed, from the pathology file of the department of pathology of the National Medical Center during a period of 8 years and 6 months from January 1976 to June 1984. The study consisted of 14 cases(77.4%) of benign tumor including 28 cases of ovarian endometriosis, and 21 cases(11.3%) of borderline malignancy and 21 cases(11.3%) of invasive malignant tumors. Among benign common "epithelial" tumors, mucinous cystadenoma(69 cases) was the most frequent tumor, followed by serous cystadenoma (42 cases) and Brenner tumor (5 cases). Of borderline tumor, borderline mucinous tumor (18 cases) was more frequent than serous tumor (3 cases). Serous cystadenocarcinoma(9 cases) was the most frequent malignant tumor, followed by mucinous cystadenocarcinoma(6 cases), endometrioid carcinoma(3 cases) and undifferentiated carcinoma(3 cases). Most ovarian common "epithelial" tumors were prevalent during the reproductive age, but malignant tumors were more prevalent after the age of 40. Although right side was more frequently found (85 vs. 67) there is no significant site predilection. Bilaterality was the most common in undifferentiated carcinoma(66.7%), followed by serous cystadenocarcinoma(44.4%) and Brenner tumor(40%). The size of tumor tended to be larger in malignant tumor than benign. Mucinous tumor were usually larger than serous tumor. There were 7 intrauterine and 1 ectopic tubal prognancy which were associated with ovarian common "epithelial" tumors. Three cases of tumors were excised during Cesarian section. In summary these findings are comparable to other reports in Korea and English literatures. Histologic analysis of borderline and malignant epithelial tumor was done to emphasize their biologic behavor. Further study is required to compare their histological grading and clinical staging with thier survival rate.

No abstract available.
46, XX Disorders of Sex Development* ; Adrenal Hyperplasia, Congenital* ; Female* ; Humans

No abstract available.
Carcinoma, Merkel Cell* ; Epidermal Cyst* ; Immunosuppression

A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or TGFBR2). They have distinctive phenotypic abnormalities including widely spaced eyes (hypertelorism), bifid uvula or cleft palate, and arterial tortuosity with aortic aneurysm or dissection throughout the arterial tree. LDS is characterized by aggressive and rapid progression of aortic aneurysm. Therefore, the patients with distinct phenotype, marked aortic dilatation and aneurysm at early age should be suspected to be affected by LDS and rapid TGFBR gene analysis should be done. We report one child diagnosed as LDS due to typical phenotypes and two novel missense mutations of the TGFBR2 gene (c.1526G>T and c.1528A>T).
Aneurysm ; Aortic Aneurysm ; Arteries ; Child ; Cleft Palate ; Connective Tissue ; Dilatation ; Eye ; Humans ; Joint Instability ; Loeys-Dietz Syndrome ; Mutation, Missense ; Phenotype ; Protein-Serine-Threonine Kinases ; Receptors, Transforming Growth Factor beta ; Skin Diseases, Genetic ; Thorax ; Uvula ; Vascular Malformations

To our knowledge, MR findings of neuroshistosomiasis has not been reported in Korea. A case of neuroshistosomiasis involving cerebellum and presumably spinal cord is reported. A 40 year old man who had lived in Middle East complained of low back pain and progressive paraparesis for 6 months, and subsequently developed headache, dizziness and diplopia. On cervical spine MRI, there was diffuse enlargement of cervical cord with increased signal intensity on T2 weighted image and nodular heterogenous enhancement after Gd-DTP^ administration. Brain MR imaging obtained 4 months later showed ill-defined, irregularly enhancing heterogenous mass in cerebellar vermis which was proved to be a granulomatous lesion containing shistosomiasis mansoni ova.
Adult ; Brain ; Cerebellum ; Diplopia ; Dizziness ; Granuloma* ; Headache ; Humans ; Korea ; Low Back Pain ; Magnetic Resonance Imaging* ; Middle East ; Myelitis, Transverse* ; Neuroschistosomiasis* ; Ovum ; Paraparesis ; Spinal Cord ; Spine