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 purpose of this study was to evaluate the clinical results and recovery of sports activity in patients who received meniscal allograft transplantation. From December 1999 to May 2009, we selected 36 cases out of 38 cases who received meniscal transplantation using fresh frozen allograft. The mean age was 33.8 years (range: 17-50 years) and the mean follow up was 68.8 months (range: 12-142 months). Clinical results were evaluated with knee assessment scoring system (KASS), Lysholm knee score and International knee Documentation Committee. The information of quadriceps and hamstrings strength recovery was obtained using Tegner activity scale, Tegner activity score and Biodex system II (Biodex, USA), and it was used to evaluate the recovery of sports activity. The average KASS score was increased from 61.7 preoperatively to 83.8 postoperatively. The average Lysholm score was increased from 77.7 preoperatively to 87.7 postoperatively. Also, Tegner activity scale, Tegner activity score and the recovery of quadriceps and hamstrings increased at 1year after surgery. In knee joint position sense, the proprioception increased compared to preoperational count. We propose the meniscal allograft transplantation is one of a proper treatment after subtotal or total meniscectomy, which can significantly relieve pain and improve function of the knee joint.
Follow-Up Studies ; Humans ; Knee ; Knee Joint ; Proprioception ; Sports ; Transplantation, Homologous ; Transplants

We report a caae of hepatic and intestinal infestation with paragonimus wewstermani complicating abscess formation. The pathway by which the paragonimus westermani reaehea liver and intestine is not well understood. However, there was possiblity that it may become lodged in other organs that the lung because of polonged larval migrations through the diaphragm or into various sites in the abdomen. The patient, 52-year-old female gave a history of having reyeatedly consumed raw crabs. An x-ray film of the chest showed clear lunga Skin test for paragonimus-westermani was positive. Abdominal ultrasonogram showed enlargement of the liver with multiple hypoechoic lesiona ERCP revealed multiple ie lesions in the right lobe of the liver. Abdaminal CT showed multifocal abscess cavities with slight rim enhancements. Above meetioned diagnostic procedures suggested liver abscess or hepatoma. Then, an exploratory laparotomy was done for a definite diagnosis, Frozen biopsy, from liver and surgically exe mass from ileocecal region revealed extrpulmonary paragnomiasis involving liver and cecum. Thus, the patient was treated with prasiquantel. Three months later, abdominal ultrasonogram demonstrated slight enlargement of the liver but no evidence of abnormal mass like lesions.
Abdomen ; Abscess ; Biopsy ; Carcinoma, Hepatocellular ; Cecum* ; Cholangiopancreatography, Endoscopic Retrograde ; Diagnosis ; Diaphragm ; Female ; Humans ; Intestines ; Laparotomy ; Liver Abscess ; Liver* ; Lung ; Middle Aged ; Paragonimiasis* ; Paragonimus ; Paragonimus westermani ; Praziquantel ; Skin Tests ; Thorax ; Ultrasonography ; X-Ray Film

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

OBJECTIVES: The vocal changes after a thyroidectomy are temporary and nonsevere, therefore, obtaining accurate analytical results on the pathological vocal characteristics following such a procedure is difficult. For a more objective acoustic analysis, this study used the cepstral analysis method to examine changes in the patients' voices during the perioperative period regarding sustained vowel phonation. METHODS: The sustained phonation of the five vowels (i.e., /a/, /e/, /i/, /o/, and /u/) by 35 patients with thyroidectomy were recorded by using a Multi-Speech program. Of the 35 patients, 10 were men and 25 were women, with an average age of 51.5 years. Voice data were collected a total of 3 times (preoperatively, 5-7 days after the operation, and 6 weeks after the operation) and were edited according to each fragment (on-set, mid, and off-set) for cepstral analysis. RESULTS: The cepstral analysis on the patients' voices revealed no significant differences between the examination periods of all vowel phonations. However, analysis of the on-set fragment of the vowel /i/ revealed pathological characteristics in which the cepstral measurements of the voice were significantly lower after the operation than before the operation, with the cepstral measurements of the voice increasing further 6 weeks following surgery. CONCLUSION: The results of the acoustic analysis on the on-set fragment of the vowel /i/ will be important data for characterizing the vocal changes during the perioperative period. This study contributes to future research on the mechanisms underlying changes in the voice of patients with a history of thyroid or neck surgery.
Acoustics ; Female ; Humans ; Male ; Methods ; Neck ; Perioperative Period ; Phonation ; Thyroid Gland ; Thyroidectomy* ; Voice*