Congenital adrenal hyperplasia(CAH) results from an inherited defect in enzymatic steps required to synthesize cortisol from cholesterol. 21-hydroxylase deficiency accounts for 95% cases of CAH. We have analyzed CYP21 genes of CAH by PCR direct sequencing. Our results shows three cases of CAH owing to multiple mutations of CYP21 gene; first case, IVS2AS, A/G, -13, Ile172Asn; second case, IVS2AS, A/G, -13, Ile236Asn, Val237Glu, Met239Lys; third case, Ile172Asn, C to G at 1590nt, Val281Leu, Arg484Pro, G to A at 2697nt. Mutations such as Ile236Asn, Val237Glu, Met239Lys, and Arg484Pro are first noted in Korea.
Adrenal Hyperplasia, Congenital* ; Cholesterol ; Hydrocortisone ; Korea ; Polymerase Chain Reaction ; Steroid 21-Hydroxylase

No abstract available.
Neurothekeoma*

No abstract available.
Facial Asymmetry

No abstract available.
Nocardia Infections*

Background and Objectives: Brugada syndrome (BrS) is an inherited arrhythmia syndrome that presents as sudden cardiac death (SCD) without structural heart disease. One of the mechanisms of SCD has been suggested to be related to the uneven dispersion of transient outward potassium current (Ito ) channels between the epicardium and endocardium, thus inducing ventricular tachyarrhythmia. Artemisinin is widely used as an antimalarial drug. Its antiarrhythmic effect, which includes suppression of Ito channels, has been previously reported. We investigated the effect of artemisinin on the suppression of electrocardiographic manifestations in a canine experimental model of BrS. Methods: Transmural pseudo-electrocardiograms and epicardial/endocardial transmembrane action potentials (APs) were recorded from coronary-perfused canine right ventricular wedge preparations (n=8). To mimic the BrS phenotypes, acetylcholine (3 μM), calcium channel blocker verapamil (1 μM), and Ito agonist NS5806 (6–10 μM) were used.Artemisinin (100–150 μM) was then perfused to ameliorate the ventricular tachyarrhythmia in the BrS models. Results: The provocation agents induced prominent J waves in all the models on the pseudoelectrocardiograms. The epicardial AP dome was attenuated. Ventricular tachyarrhythmia was induced in six out of 8 preparations. Artemisinin suppressed ventricular tachyarrhythmia in all 6 of these preparations and recovered the AP dome of the right ventricular epicardium in all preparations (n=8). J wave areas and epicardial notch indexes were also significantly decreased after artemisinin perfusion. Conclusions Our findings suggest that artemisinin has an antiarrhythmic effect on wedge preparation models of BrS. It might work by inhibition of potassium channels including Ito channels, subsequently suppressing ventricular tachycardia/ventricular fibrillation.

Hemangiopericytoma was first described by Stout & Murray in 1942 and was an uncommon soft tissue tumor thought to be derived from vascular pericytes. Approximately 10-15% of the cases occur in children have a propensity to develop in the region of head, neck and lower extremities. We experienced a case of congenital hemangiopericytoma of small bowel in a male neonate who showed vomiting and abdorninal distension. We reported a case of congenital hemangiopericytoma of small bowel with brief review of related literature.
Child ; Head ; Hemangiopericytoma* ; Humans ; Infant, Newborn ; Intestinal Obstruction* ; Intestine, Small ; Lower Extremity ; Male ; Neck ; Pericytes ; Vomiting

PURPOSE: The purpose of this study was to describe the clinical characteristics of neonatal urinary tract infection (UTI) caused by Klebsiella pneumoniae and non- Klebsiella pneumoniae UTI. METHODS: We compared clinical characteristics of 84 neonatal patients with UTI caused by Klebsiella pneumoniae who were hospitalized at the Department of Pediatricsat Han Dong University, Sunlin Hospital during the period between May, 1994 and August, 1998. The cases were divided into two groups depending upon causative organisms' Klebsiella pneumoniae UTI vs non-Klebsiella pneumoniae UTI, and the clinical characteristics of these groups were compared. RESULTS: Escherichia coli was the most common bacterial pathogen causing neonatal UTI, followed by Klebsiella pneumoniae. There was no significant difference in the sex distribution of Klebsiella pneumoniae UTI, but non-Klebsiella pneumoniae UTI showed male predominence. There were no significant differences in the incidences of hematologic, urologic, radiologic findings and perinatal complications in between these 2 groups. CONCLUSION: Klebsiella pneumoniae is the second most common pathogen causing neonatal UTI. There were no specific differences in the laboratory, symptomatologic, and radiologic findings in these two groups.
Escherichia coli ; Humans ; Incidence ; Klebsiella pneumoniae* ; Klebsiella* ; Male ; Pneumonia ; Sex Distribution ; Urinary Tract Infections* ; Urinary Tract*

In order to evaluate the confounding factors of neurobehavioral tests and the neurobehavioral effects in the workers exposed to organic solvents, NCTB was carried out on 100 workers. 46 workers had never been exposed to neurotoxic substances, and the others were being exposed to the solvents, mainly toluene. Simple reaction time, digit symbol, Santa Ana dexterity test and persuit aiming were different with age in non exposure group. Simple reaction time was carried out well in males, and digit symbol and persuit aiming were in females. There was no difference at educational level when the subject was educated over 12 years. Santa Ana dexterity and Benton visual test differed according to exposure level to toluene, however simple reaction time didn't. The acute neurotoxic effect was not excluded in this study. But, NCTB could be used to evaluate and prevent neurobehavioral changes in workers exposed to neurotoxic solvents in Korea.
Female ; Humans ; Korea ; Male ; Reaction Time ; Solvents* ; Toluene

The present study was performed to evaluate the effect of sulfhydryl compounds, cysteine and glutathione, on the size of melanosomes and the ratio of melanosormai stages of epidermal melanocytes in UV-irradiated black mice. The results were as follows; 1. Both of cysteine and glutathione showed significant diminution in the short axis of melanosomes and the percentage of stage 4 melanosomes of epidermal melanocytes in C57BL black mice skin. 2. The length of short axis of melanosomes in glutathione-treated group is smaller than those in cysteine-treated group at the end of 3rd week of intraperitoneal injection. The percentage of stage IV melanosomes significantly decreased in glutathione-treated group and cysteine-treated group at the end of 3rd week and 5th week respectively. 3. In glutathione-treated group, the short axis of melanosomes and the percentage of stage 4 melanosomes both decreased in proportional to the period of intraperitoneal in]ection.
Animals ; Axis, Cervical Vertebra ; Cysteine ; Glutathione ; Injections, Intraperitoneal ; Melanocytes* ; Melanosomes ; Mice* ; Skin ; Sulfhydryl Compounds*

PURPOSE: To verify the usefulness of left portal vein angle (LPVA) on CT scan in the diagnosis of liver cirrhosis and to compare its diagnostic value with that of caudate to right lobe ratio (C/RL ratio). MATERIALS AND METHODS: LPVA, an angle formed by a vertical line and a line connecting the center of the vertebral body to the umbilical point of the left portal vein, and C/RL ratio were measured on CT scans of 100 cirrhotic and 100 normal livers. Diagnostic values of LPVA and C/RL ratio were compared statistically. RESULTS: The mean of LPVA was 18.9 degrees(SD; 7.6) for normal livers and 25.8 degreesSD; 8.4) for cirrhotic livers (P<0.001). The mean of C/RL ratio was 0.47(SD; 1.10) for normal livers and 0.58(SD;0.14) for cirrhotic livers (P<0.001). When LPVA was greater than 30 degreesliver cirrhosis was diagnosed with 36% sensitivity and 92% specificity. When C/RL ratio was greater than 0.60, the diagnose of liver cirrhosis was with 41% sensitivity and 90% specificity. There was no significant difference of the diagnostic accuracy between LPVA and C/R L ratio in ROC analysis. CONCLUSION: Both LPVA and C/RL ratio are useful diagnostic indices of liver cirrhosis on CTscan. LPVA is more convenient to measure than C/RL ratio.
Diagnosis* ; Fibrosis ; Liver Cirrhosis* ; Liver* ; Portal Vein* ; ROC Curve ; Sensitivity and Specificity ; Tomography, X-Ray Computed