The objective of this study is to establish the genotyping methods of new HLA gene, TAP1 and TAP2, and determine the genetic polymorphisms for database study in Koreans before using in clinical laboratory. Polymerase chain reaction- Restriction Fragment Length Polymorphism (PCR-RFLP) and PCR-Sequence Specific Primers (PCR-SSP) techniques were used for TAP1 and TAP2 genotying, respectively. Restriction enzymes, Bcll and Accl, and 4 oligonucleotide primers were used for the PCR-RFLP analysis of TAP1. Whereas for PCR-SSP assay of TAP2, 12 oligonucleotide primers were synthesized. The results of control cells were correlated well with the types which were analyzed at Xlth histocompatibility international workshop. Arnong three and six different alleles of TAP1 and TAP2 found in 200 unrelated Korean individuals, TAP1A (84%) was the most frequent allele. TAP1B and TAP1C were 15.5% and 0.5% respectively. TAP2A represented more than a half (55.1%). TAP2B and TAP2C were 32.2% and 9.2% respectively. TAP1D, TAP2F and TAP2G were not found in Koreans.
Alleles ; DNA Primers ; Education ; Histocompatibility ; Polymerase Chain Reaction ; Polymorphism, Genetic* ; Polymorphism, Restriction Fragment Length

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

PURPOSE: Obesity is a risk factor for cardiovascular morbidity and is frequently associated with coronary artery disease, hypertension, and diabetes mellitus. Conventional Doppler technique is limited by the absence of an adequate apical window to assess the transmitral flow in obese patients. Tissue Doppler imaging(TDI) and strain rate imaging(SRI) were performed to assess the influence of obesity on left ventricular systolic function. METHODS: In 13 obese and 15 normal adolescents aged 16 to 17 years, height, weight, body mass index(BMI), and obesity index(OI) were measured. Fat mass, body fat percent, and abdominal fat percent were estimated by bioelectrical impedance. Ejection fraction(EF) and myocardial performance index(MPI) were estimated by conventional echocardiography to evaluate left ventricular systolic function. Systolic myocardial velocity and strain rate were estimated by TDI and SRI. RESULTS: EF(63.8+/-6.4% vs 55.7+/-3.4%) was significantly lower in obese adolescents than normal controls. MPI(0.34+/-0.03 vs 0.48+/-0.06) was significantly higher in obese adolescents than normal controls. Systolic myocardial velocity and strain rate were significantly lower in obese adolescents than normal controls. Strain rate showed a negative correlation with arm circumference(r=-0.558, P<0.05) and BMI(r=-0.332, P<0.05). Strain rate was positively correlated with EF(r=0.557, P<0.05) at the base of left ventricle by SRI CONCLUSION: Significant decrease in left ventricular systolic function was noted in the moderate degree of obesity. SRI may be a more useful diagnostic tool in evaluating systolic dysfunction in patients with moderate degree of obesity.
Abdominal Fat ; Adipose Tissue ; Adolescent* ; Arm ; Body Weight ; Coronary Artery Disease ; Diabetes Mellitus ; Echocardiography ; Electric Impedance ; Heart Ventricles ; Humans ; Hypertension ; Obesity ; Risk Factors

PURPOSE: This study was designed to determine the relationship between binocular function and the surgical outcome of intermittent exotropia. METHODS: The surgical outcome and binocular function were retrospectively investigated in 44 patients who had undergone surgery for intermittent exotropia with at least 6 months of post-operative follow-up. We evaluated visual acuity, age at operation, angle of exodeviation, fusional status with Worth-4-dot test and stereoacuity with Titmus test before and after surgery. RESULTS: A 'surgical success' defined as a final alignment of orthophoria, esotropia less than 5PD or exotropia less than 10PD at far primary position, was achieved in 31 patients (70%). The surgical outcome according to preoperative stereopsis and fusional status was not statistically significant. Whereas, there was a tendency toward more surgical success in patients with central fusion and the first postoperative day diplopia but statistically indifferent. There was an improvement of stereoacuity in 34 out of 44 patients after surgery. The fusional status was improved in 9 patients out of 44 patients. There was an improvement of postoperative binocular function regardless the surgical outcome. But the achievement of fine stereopsis below 100 seconds of arc and central fusion increased only in success group. CONCLUSIONS: The preoperative binocular function did not contribute significantly to the surgical outcome (p>0.05) and postoperative binocular function could be improved by surgical correction in both surgical success and failure group. But the better binocular function was achieved by successful surgical alignment.
Depth Perception ; Diplopia ; Esotropia ; Exotropia* ; Follow-Up Studies ; Humans ; Retrospective Studies ; Telescopes* ; Visual Acuity

To study the clinical characteristics and treatment results of childhood soft tissue sarcoma, the retrospective study was performed on 67 patients with soft tissue sarcoma, experienced at the Department of Pediatrics, Seoul National University Hospital from January, 1982 to July, 1990. The median age of 67 soft tissue sarcoma patients was 4 years 5 months and age distribution showed that 0-4 year age group was most common (55.2%). The sex ratio of male to female was 1.2:1. There were 3 cancers among relatives of soft tissue sarcoma patients, including one cancer among first-degree relatives. As for pathological classification, rhabdomyosarcoma (67.1%) was the most common childhood soft tissue sarcoma, followed by malignant Schwannoma (8.9%), extraskeletal Ewing's sarcoma (6.0%), infantile fibrosarcoma (4.5%), malignant fibrous histiocytoma (3.0%), malignant hemangiopericytoma (3.0%), and there were 1 case each of angiosarcoma, leiomyosarcoma, synovial sarcoma, malignant mesenchymoma and mesenchymal chondrosarcoma. The median age of 45 rhabdomyosarcoma patients was 3 years 8 months and age distribution showed that 0-4 year age group was most common (64.5%). Twenty three patients were male and 22 were female. The histologic subtype of rhabdomyosarcoma was embryonal type in 38 patients (84.5%), alveolar type in 5 patients (11.1%) and unclassified type in 2 patients (4.4%). As for primary site of soft tissue sarcomas, the most frequent site was the head and neck region (32.8%) including parameningeal region (13.4%) and orbit (6.0%), followed by extremities (20.9%), trunk (19.4%), retroperitoneum and pelvis (11.9%), urogenital region (7.5%), perineum and perianal region (4.5%) and other region (3.0%). As for primary site of 45 rhabdomyosarcoma cases, the most frequent site was also the head and neck region (37.8%). The most common initial symptom of soft tissue sarcoma patients was mass (68.7%). As for Intergroup Rhabdomyosarcoma Study clinical grouping system of 67 soft tissue sarcoma patients, clinical group III (58.2%) was most common, followed by clinical group II(20.9%), IV (14.9%) and I (6.0%). Of 10 cases of clinical group IV with distant metastasis, lung (8 cases) was the most common metastaic region and other metastatic regions were bone, kidney, liver and bone marrow. As for IRS clinical grouping system of 45 rhabdomyosarcoma patients, clinical group III was most common (68.9%). Of 6 cases of clinical group IV, lung (5 cases) was also the most common metastatic region, followed by kidney and liver. From 1982 to 1985, chemotherapy was done with pulse VAC or pulse VAdrC-VAC regimen based on IRS-I and IRS-II. From 1986, patients in clinical group I and II received vincristine and actinomycin-D for 1 year and patients in clinical group III, IV and II with alveolar histologic subtype(unfavorable histologic group) received vincristine, actinomycin-D, adriamycin, cyclophosphamide and cisplatinum based on IRS-III. Radiation therapy was administered to patients in clinical group II, III and IV. Of 67 cases of soft tissue sarcoma, 54 case were eligible for treatment analysis. The 3 year disease free survival (DFS) of all 54 cases was 54.1%, 3 year DFS of clinical group I and II was 83.9%,3 year DFS of clinical group III and IV before 1986 was 35.7% and after 1986 was 48.2%. Of 45 cases of rhabdomyosarcoma, 41 cases were eligible for treatment analysis. The 3 year DFS of all 41 cases was 49.1%,3 year DFS of clinical group I and II was 87.5%,3 year DFS of clinical group III and IV before 1986 was 27.2% and after 1986 was 45.0%. Patients in clinical group I and II who had no gross residual tumor after primary surgical excision had best prognosis with 3 year DFS approximating 90% with only 2 drugs regimen, significantly better than patients in clinical group III and IV with 3 year DFS below 50% even after intensifying chemotherapy since year 1986. This analysis suggests that total surgical removal is very important for improving prognosis and should be undertaken where possible in all patients without distant metastasis. Treatment results also showed that after year 1986 with intensification of chemotherapy, 3 year DFS of clinical group III and IV as well as early toxic deaths increased, and after lowering doses of chemotherapeutic agents of regimen 35 of IRS-III, treatment results improved much. Therfore to improve prognosis of patients with gross residual tumor after surgical excision of biopsy and patients with distant metastasis at diagnosis, intensified multiagent chemcherapeutic regimen with adequate dose modification should be done to lower early toxic deaths.
Age Distribution ; Biopsy ; Bone Marrow ; Chondrosarcoma, Mesenchymal ; Classification ; Cyclophosphamide ; Diagnosis ; Disease-Free Survival ; Doxorubicin ; Drug Therapy ; Extremities ; Female ; Fibrosarcoma ; Head ; Hemangiopericytoma ; Hemangiosarcoma ; Histiocytoma, Malignant Fibrous ; Humans ; Kidney ; Leiomyosarcoma ; Liver ; Lung ; Male ; Mesenchymoma ; Neck ; Neoplasm Metastasis ; Neoplasm, Residual ; Neurilemmoma ; Orbit ; Pediatrics ; Pelvis ; Perineum ; Prognosis ; Retrospective Studies ; Rhabdomyosarcoma ; Sarcoma* ; Sarcoma, Ewing ; Sarcoma, Synovial ; Seoul ; Sex Ratio ; Survival Rate ; Vincristine

No abstract available.
Dendritic Cells* ; Female ; Humans

The use of recombinant DNA technology to produce human growth hormone has resulted in a marked increase in availability of Growth Hormone(GH) to treat short stature due to GH deficiency and other conditions, such as Turner syndrome, familial short stature, chronic renal insufficiency and intrauterine growth retardation (IUGR). But, the GH therapy may result in the adverse events such as sodium and water retention, pseudotumor cerebri, slipped capital femoral epiphysis, growth of nevi, recurrence of tumor. We experienced a case of severe hypertension associated with GH therapy in a 14-year-old male who presented high blood pressure up to 190/100 mmHg and normalized at 2-3 weeks after discontinuation of GH. Therefore, we think that the blood pressure should be carefully monitored during GH therapy.
Adolescent ; Blood Pressure ; DNA, Recombinant ; Fetal Growth Retardation ; Growth Hormone* ; Human Growth Hormone ; Humans ; Hypertension* ; Male ; Nevus ; Noonan Syndrome ; Pseudotumor Cerebri ; Recurrence ; Renal Insufficiency, Chronic ; Slipped Capital Femoral Epiphyses ; Sodium

No abstract available.
Anal Canal* ; Paget Disease, Extramammary* ; Radiotherapy* ; Vulva*

No abstract available.
Female ; Humans ; Middle Aged* ; Myofibroblasts

No abstract available.
Foot ; Pemphigus