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

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

No abstract available.

BACKGROUND: Although diagnostic peritoneal lavage (DPL) is a well-established, reliably objective method of diagnosis of intraperitoneal injury, it is too sensitive to be used as a absolute indicator for emergency laparotomy. Recently, Otomo et al, have devised a new DPL criteria specifically designed and modified the classics criteria to aid in diagnosis of intestinal injury. So the author studied the difference of diagnostic sensitivity, specificity, and accuracy between the new and classic criteria for intestinal injury. METHODS: The author reviewed retrospectively one hundred fifteen patients underwent DPL from January 1993 to August 1999. The author adopted the classic criteria positive for intestinal injury when the lavage fluid was white blood cell(WBC) > or = 500/mm3 and newly developed supplementary criteria positive when RBC > or = 100,000/mm3, the positive-negative borderline was adjusted to WBC > or = RBC/150, and when RBC <100,000/mm3, to WBC > or = 500/mm3. And analyzed the difference of sensitivity, specificity, and accuracy each other. RESULTS: Among 115 patients, the sensitivity, specificity, and accuracy for intestinal injury were 96.4%, 87.4%, and 89.6% for the new criteria, and 100%, 42.5%, and 56.5% for the classic criteria. After exclusion of 10 patients in whom-DPL was performed within 3 hours or after 18 hours from the time of injury, the sensitivity, specificity and accuracy for intestinal injury were 96.4%, 97.4%, and 97.1% for the new criteria, and 100%, 46.8%, and 61% for the classic criteria. When analyzed the time interval from injury to DPL in the new criteria, 105 patients that DPL was performed between 3 to 18 hours had 2 false-positive, while 115 patients regardless of DPL time 11 false-positive. CONCLUSIONS : The author concluded that the new criteria of DPL effluent performed between 3 to 18 hours from abdominal blunt trauma would be more specific and accurate indicator of intestinal perforation than the classic criteria. And this new criteria will be used as a reliable indicator for emergency laparotomy for that patients.
Diagnosis ; Emergencies ; Humans ; Intestinal Perforation ; Laparotomy ; Peritoneal Lavage* ; Retrospective Studies ; Sensitivity and Specificity ; Therapeutic Irrigation

Total knee arthroplaty has been used to treat the elderly patient who has severe arthritis but the early designs were associated with many problems, which frequently led to early failure. In 1974, the total knee arthroplasty was introduced and the reported results of this operation have improved consistantly with time. Recently the good results has been shown to treat rheumatoid patients and osteoarthritis patients less than 45 years old patients. At the department of orthopaedic surgery of Kosin Medical College, between 1984 and 1988, total knee arthroplasty was performed in 17 patients (22 kness) who had rhematioid arthritis (7 patients) and osteoarthritis (11 patients), and had followed for an average of 1 year and 8 months. The results were as follows 1. The knee that had rheumatoid arthritis had better knee scores than that of osteoarthritis. 2. The knee that remained the post cruciate lig. had better range of motion than that sacrificed. 3. The knees that had not used cement had better knee scores than that had used the cement. 4. The knees that had patella resulrfacing had better scores for pain than that had not.
Aged ; Arthritis ; Arthritis, Rheumatoid ; Arthroplasty ; Arthroplasty, Replacement, Knee ; Humans ; Knee ; Osteoarthritis ; Patella ; Range of Motion, Articular

Chronic eosinophilic pneumonia is a rare diasease characterized by chronic infiltration of the lung with ~eosinophils, usually associated with peripheral eosinophilia. In 65% of cases, the chest rad Ogroaph shows typiical nonsegmental air-space consolidation confined to the outer third of the lung and in 25)/0 of case "photographic negative of pulmonary edema". Typical lung manifestations with 'peripheral eosinophiliSa' tahrcharacteristic of chronic eosinophilic pneumonia. In the remaining cases, radiographic findings are nonspecific and require lung biopsy for confirmation. We repot a case of chronic eosinophilic pneumonia in which chest radiograph and CT scans revealed bilateral patchy or diffuse opacity with nodules scattered throughout the lungs.
Biopsy ; Eosinophilia ; Eosinophils* ; Lung ; Pulmonary Eosinophilia* ; Radiography, Thoracic ; Thorax ; Tomography, X-Ray Computed

Platelet-derived growth factor(PDGF) and lipopolysaccharide(LPS) may be the important regualtors of bone metabolism. Exogenous PDGF is recognized to have a stimulating effect on bone resorption in organ culture, but to stimulate the formation of new bone ultimately. LPS is known to be a stimulating agent on the osteoclastic activity. The purpose of this study was to evaluate the effects and the interaction of PDGF and LPS on periodontal ligament(PDL) cells which have important roles in bone remodeling. Cultured human periodontal ligament cells were treated with various concentration of PDGF and/or LPS. The cellular viability was measured by Microtitration(MTT) assay according to the lapse time of culture. The obtained results were as follows: 1. The viability of PDL cells was not different from the control in O.lng/ml of PDGF, but was significantly increased to be over the level of control in lng/ml of PDGF at the second day of culture, and in lOng/ml of PDGF at the second and the third day of culture. 2. The cellular viability was decreased in O.5microgram/ml or 5microgram/ml of LPS at the third day of culture. 3. Incubation with both 1ng/ml or 10ng/ml of PDGF and 0.5microgram/ml or 5microgram/ml of LPS resulted in the increased cellular viability at the third day, which. was greater than LPS only treated group. It was greater than even the control group in lOng/ml of PDGF. From the above findings, we could summarize that the admixture of PDGF and LPS could not less increase the viability of the human periodontal ligament cells than PDGF only.
Bone Remodeling ; Bone Resorption ; Humans* ; Metabolism ; Organ Culture Techniques ; Osteoclasts ; Periodontal Ligament*

Inflammatory pseudotumor of urinary bladder is a rare benign entity that clinically and radiologically simulates a malignant tumor. This benign lesion can easily be mistaken for sarcoma, and only careful pathologic examination can provide a definite diagnosis. It is important to recognize this lesion as benign to avoid the potentially serious consequences of misdiagnosis. A 53-year-old man presented with a history of micturition pain and urinary frequency despite of symptomatic treatment with antibiotics for 2 weeks. Cystoscopic examination, ultrasonography and of revealed a well defined mass with central necrosis. The mass was located at the left lateral wall of the bladder, and it was 3x3 cm sized round shape. We suspected benign tumor by above diagnostic modalities and we confirmed inflammatory pseudotumor by frozen section of mass, followed by partial cystectomy was performed. Awareness of this unusual lesion is important to prevent unnecessary surgical procedure. We report a case of inflammatory pseudotumor of the urinary bladder and reviewed 21 cases of this disease including our case.
Anti-Bacterial Agents ; Cystectomy ; Diagnosis ; Diagnostic Errors ; Frozen Sections ; Granuloma, Plasma Cell* ; Humans ; Middle Aged ; Necrosis ; Sarcoma ; Ultrasonography ; Urinary Bladder* ; Urination

In unanesthetized rabbits, alcohol, glyserin, or heavy water was injected intravenously and nystagmic reaction elicited by passive alteration of body position was recorded by means of nystagmography, and the specific direction of the nystagmus was also observed. The following results were obtained 1. After Injection of alcohol (2.5~3.5ml/kg), right sloe down or lelf side down position elicited nystagmus in both eyes (FAN I) Right sloe down position elicited supero-dorsal nystagmus in the ipsilateral eye anti Infero-central nystagmus In the contralateral eye Left side down position produced nystagmus towards reversed directions 2. Returning to neutral position from one sloe down also elicited nystagmus towards the same direction. 3 From 5~6 hours after Injection of alcohol, the direction of the positional nystagmus was reversed, manifesting phase II of the PAN (PANII) 4. Injection of glycerin (2.0~3.0ml/kg) or heavy water (2.0~25ml/kg) also elicited positional nystagmus. The direction of the nystagmus was the same as and opposite to that Induced by alcohol Injection
Deuterium Oxide* ; Glycerol* ; Nystagmus, Physiologic* ; Rabbits

PURPOSE: Allelic loss on chromosome 18q is a hallmark of presence of a tummor represser gene. Recently, DPC4 (deleted in pancreatic carcinoma, locus 4), a candidate tumor suppressor gene, has been localized at 18q21. Inactivation of DPC4 gene was reported in pancreatic carcinomas, coloretal carcinomas, and prostatic carcinomas. The aim of the present study was to determine if it might be altered in stomach cancer. MATERIALS AND METHODS: We tested for DPC4 gene mutations and allelic status at 18q21 using a modified 'cold SSCP' method in 48 primary gastric carcinoma and correlated the findings with various clinicopathologic characteristics of the patients. RESULTS: The frequency of mutations in primary gastric cancer was 27.1% (13/48). Mutations of exon 1, 8, 10 were found in 2 (4.1%), 4 (8.2%) and 7 cases (14.6%), respectively. DNA sequencing of 13 cases with DPC4 mutations identified six cases (46.1%) with substitution, four cases with deletion (30.7%), and two cases (23.1%) with insertion. No significant difference was observed in the frequency of DPC4 mutations in terms of other various clinicopathologic characteristics. CONCLUSION: These findings suggest that DPC4 mutations may play a significant role in the establishment and progression of the primary gastric cancer.
Exons ; Genes, Tumor Suppressor ; Humans* ; Loss of Heterozygosity ; Polymorphism, Single-Stranded Conformational ; Sequence Analysis, DNA ; Stomach Neoplasms* ; Stomach*