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

The present study was performed to evaluate the comedogenicity of several cosmetic ingredients, vegetable oils, steroid and sulfur. The test materials were applied to one ear canal of rabbits for 6 weekdays for 2 weeks. The results were as follows: l. Among the 14 cosmetic ingredients, no comedogenicity was shown in propylene glycol and petrolatum, mild comedogencity in squalene, acetylated lanolin, polyethylene glycol, cetyl aIcohol and Tween 80. Propylene glycol, sodium lauryl sulfate and oleic acid showed moderate comedogenicity. Severe comedogenicity was observed in myristyl myristate, isopropyl myristate, butyl stearate and myristyl lactate. 2. Moderate to severe comedogenicity was shown in olive oil, sesame oil and corn oil and moderate comedogenicity in sulfur (8%) and betamethasone dipropionate (0.06%) R. Histopathologic grading were paralleled the findings of the naked eye.
Betamethasone ; Corn Oil ; Ear Canal ; Lactic Acid ; Lanolin ; Myristic Acid ; Olea ; Oleic Acid ; Petrolatum ; Plant Oils ; Polyethylene Glycols ; Polysorbates ; Propylene Glycol ; Rabbits ; Sesame Oil ; Sodium Dodecyl Sulfate ; Squalene ; Sulfur ; Olive Oil

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*

Clear cell carcinoma of ovary is a rare epithelial ovarian tumor, and increased in its incidence recently. Clear cell carcinoma of ovary was known t,o be highly malignant than other epithelial ovarian tumors. The clinical and pathologic findings of two casea af clear cell carcinoma of ovary are reported and reviewed briefly.
Female ; Incidence ; Ovary*

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