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

OBJECTIVES: Developing mental health services and systems to identify children with Attention Deficit/Hyperactivity Disorder (ADHD) and providing early therapeutic interventions for them are important to prevent further impairments or disturbances associated with the disorder. The purpose of this study is to examine the clinical validities and efficiencies of Korean Child Behavior Checklist (K-CBCL) and Korean ADHD Rating Scale (K-ARS) for screening and identifying children with ADHD in community. METHODS: Randomly selected 1st to 3rd graders of the two elementary schools (n=1668) in the City of Gunsan participated in the study. K-CBCL and K-ARS were used as screening instruments. Diagnoses were determined by clinical psychiatric interviews and confirmed by Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version-Korean Version (K-SADS-PL-K) using DSM-IV criteria. RESULTS: The rate of inclusion above the T score of 60 with regard to the attention problems profile of K-CBCL was 4.5%. There was a significant correlation (p<.01) between parent and teacher reports of K-ARS, and the rate of inclusion was 2.5% when 90th percentile cut-off points were applied for both of the reports. Of the 46 subjects who underwent clinical psychiatric interviews, 33 (71.7%) were diagnosed as ADHD. The T score of 60 with regard to the attention problems profile of K-CBCL resulted in a reasonable level of sensitivity or positive predictive value in the diagnosis of ADHD. 90th percentile cut-off scores in both parent and teacher reports of K-ARS resulted in a high level of predictive value. The highest level of specificity and positive predictive value were computed when K-CBCL (T> or =60 in attention problems) and K-ARS (parent/teacher total> or =90th percentile) reports were combined. CONCLUSION: These findings suggest that the K-CBCL and K-ARS together could serve as a rapid and useful screening instrument to identify children with ADHD in epidemiologic case definitions.
Checklist ; Child Behavior ; Child* ; Community Mental Health Services* ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Humans ; Jeollabuk-do ; Mass Screening* ; Mental Health ; Mental Health Services ; Mood Disorders ; Parents ; Sensitivity and Specificity

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

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*

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