In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), clinical presentation with movement disorders such as dystonia and progressive supranuclear palsy-phenotype are rarely reported. None of the CADASIL cases, to our knowledge, has been reported with chorea. Herein, we describe a Korean woman with CADASIL who had presented with chorea. 18F-fl uorodeoxyglucose positron emission tomography (FDG-PET) showed hypometabolism in the right basal ganglia. We found decreased FDG uptake of the right basal ganglia by SPM analysis.

PURPOSE: p53 gene mutations, one of the most common alterations found in human tumors, has also been detected in gastric carcinoma, and shown to have a crucial and early role in gastric carcinogenesis of intestinal type and mainly associated with tumor progression in the cancer of diffuse type. We tried to investigate the frequency of p53 mutations in 27 gastric carcinomas. MATERIALS AND METHODS: Fresh tumor tissue from a series of gastric carcinoma was screened for p53 mutations by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) with silver staining and confirmed by direct-sequencing in 27 cases of gastric carcinoma. Immunohistochemical method for p53 protein accumulation was also performed in the same cases. RESULTS: Immunohistochemistry revealed 20 of 27 cases of gastric carcinoma, positive for p53. PCR-SSCP analysis of p53 exons 5-8 detected mobility shift in 4 out of 20 p53-positive tumors; three from exon 5 and the other from exon 7, respectively. DNA sequencing of exon 5 showed CGC to CAC point mutation in one of three cases; exon 7, ATC to AAC point mutation. It seemed that there was no correlation between genetic alterations of p53 gene detected by PCR-SSCP and expression of p53 protein by immunohistochemistry. CONCLUSIOAS: Our results suggest that mutations of the p53 gene are rare genetic events in carcinogenesis of gastric carcinomas. There was discrepancy between mutations screened by PCR-SSCP and overexpressions in immunohistochemical staining.
Carcinogenesis ; Exons ; Genes, p53 ; Humans ; Immunohistochemistry ; Point Mutation ; Polymerase Chain Reaction* ; Polymorphism, Single-Stranded Conformational* ; Sequence Analysis, DNA ; Silver Staining

No abstract available in English.
Neurilemmoma

The developement of squamous cell carcinoma from the draining sinus of chronic osteomyelitis has long been recognized as a rare and late complication. The mode of developement of carcinoma at the site of chronic osteomyelitis is not well understood. This, however, is chiefly a disease of middle aged men, and tibia is the most common site. There are two types in this carcinoma; superficial and deep types. In the superficial type obvious presence of fungaiing growth makes diagnosis simple and easily confirmed by biopsy. In the deep type the diagnosis is difficult clinically, but the features most frequently described are an increase in pain and discharge with swelling and hemorrhage. Amputation at the adequate level is the treatment of choice. Three cases of the disease involving one left femur, and two left tibiae are reported with review of literature.
Amputation ; Biopsy ; Carcinoma, Squamous Cell ; Diagnosis ; Epithelial Cells ; Femur ; Hemorrhage ; Humans ; Male ; Middle Aged ; Osteomyelitis ; Tibia

PURPOSE: Intraventricular hemorrhage(IVH) is a major risk factor for neurodevelop- mental handicap in very low birth weight infant. So we carried out to determine the efficacy of indomethacin in reducing the incidence of intraventricular heorrhage in very low birth weight infant. METHODS: A prospective, random trial was carried out to determine the efficacy of indomethacin in preventing intraventricular hemorrhage. A total of 46 infants of less than 1500g birth weight admitted to NICU of IL Sin Christian Hospital from August 1995 to June 1997 were analyzed. Randomly, 23 infants were given indomethacin and 23 infants were not given as control group. Serial cranial ultrasound examination was performed. RESULTS: There were no differences in the birth weight, gestational age, sex, Apgar score, blood pressure, intake and output within the first 3 days between the indornethacin and control groups. Of 23 infants given indomethacin, four had germinal matrix or intraventricular hemorrhage, in comparison with 10 of 23 control infants(P=0.045). CONCLUSION: Prophylactic indomethacin lowers the incidence of IVH in very low birth weight infants.
Apgar Score ; Birth Weight ; Blood Pressure ; Gestational Age ; Hemorrhage* ; Humans ; Incidence ; Indomethacin* ; Infant ; Infant, Very Low Birth Weight ; Prospective Studies ; Risk Factors ; Ultrasonography

Neuronal migrational disorders of the brain represent abnormalities in the formation of the neocortex caused by faulty migration of the subependymal neuroblasts. The neuroblasts normally migrate between the sixth and 15th gestational week and in doing so form the six-layered neocortex. When the migration does not occur in a normal fashion the resultant brain anomalies include lissencephaly, pachygyria, schizencephaly, hemimegalencephaly, heterotopia, and polymicrogyria. Neuronal heterotopia is a collection of nerve cells in abnormal locations as a result of arrest of their radial migration, improper formation, or destruction of the radial glial fiber. We reported a case of neuronal heterotopia with brief review of related literatures.
Agenesis of Corpus Callosum ; Brain ; Lissencephaly ; Malformations of Cortical Development ; Neocortex ; Neuronal Migration Disorders ; Neurons*

No abstract available.
Abdominal Cavity* ; Catheters* ; Diaphragm*

Midtrimester genetic amniocentesis has been a gold standard for prenatal diagnosis in antenatal care since last 25 years. After the triple serum marker test was introduced as a prenatal screening method for Down syndrome, the frequency of genetic amniocentesis was increased. OBJECTIVE: To determine the complication, risk of amniocentesis and detection rate of chromosomal abnormality. MATERIAL AND METHODS: A retrospective clinical analysis of 1,064 midtrimester genetic amnicentesis in IL Sin Christian Hospital antenatal clinic from Jan 1995 to Dec 1997. Chi square test was used for the statistical analysis and p value < 0.05 was considered significant. RESULTS: Amnicentesis were significantly increased in the age of 35-39 yrs and 40yrs over. And also the incidence of chromosomal abnormality was higher than younger age group. The indications of amnicentesis were screen positive of triple marker test(43%), advanced maternal age(20.8%), abnormal beta-hCG level, past history of chromosome abnormality or malformed baby and abnormal alpha-FP level in order. Total number of chromosomal abnormalities was 30 and the incidence of chromosomal abnormalities was 2.8%(30/1,064). The complications were developed in 13 cases and fetal loss rate was 0.78%(9/1,064). CONCLUSION: The detection rate of chromosomal abnormality in midtrimester amnicentesis for prenatal diagnosis was high and relatively safe procedure but, we should be attention to more careful manipulation.
Amniocentesis ; Biomarkers ; Chromosome Aberrations ; Down Syndrome ; Female ; Humans ; Incidence ; Pregnancy ; Pregnancy Trimester, Second* ; Prenatal Diagnosis ; Retrospective Studies

The authors underwent the serum lipid study, involving the lipoprotein fraction, and the HDL-cholesterol mean values in normal Korean adults visited to Hanyang University Hospital, and also compared with the previously reported serum lipid studies. The results are as follows; 1) The mean values of triglyceride, total cholesterol, and phospholipid were 103.3+/-17.1mg%, 188.9+/-18.2mg%, and 196.7+/-19.8mg%, respectively. 2) Compared with the past 7 years triglyceride showed increasing tendency with significance, and cholesterol and phospholipid showed slightly increasing tendency. 3) In the serum lipoprotein fraction, the mean values of alpha-lipoprotein, pre-beta-lipoprotein, and beta-lipoprotein were 37.2+/-5.9%, 16.0+/-4.2%, and 48.6+/-5.2%, respectively. 4) Compared with the past 10 years, the alpha-, and pre-beta-lipoprotein showed increasing tendency, meanwhile, beta-lipoprotein revealed decreasing tendency. 5) The mean value of HDL-cholesterol was 52.3+/-14.6mg%, and the ratio of HDL-cholesterol to total cholesterol(HDL-cholesterol/total cholesterol) was 28.2+/-7.9. 6) Compared with the past 2 years, HDL-cholesterol level showed slightly increasing tendency.
Adult ; Cholesterol ; Humans ; Lipoproteins ; Triglycerides

True exfoliation of the lens capsule is a rare disorder, in which anterior layer of the lens capsule delaminates and appears as a thin fluttering membrane in the anterior chamber. It was described by Elschnig in 1922 in glassblowers who were exposed to severe hot, open fire. It has been considered that it is caused by severe fire, intraocular inflammation, ocular trauma, aging, and infrared radiation. The authors report a case of true exfoliation which occurred in 64 year old female patient without any causative factor and found to have delaminated anterior lens capsule by histopathologic study.
Aging ; Anterior Chamber ; Cataract ; Female ; Fires ; Humans ; Inflammation ; Membranes ; Middle Aged