Congenital adrenal hyperplasia, especially due to steroid-12-hydroxylase(P450c21) deficiency, is one of the most common autosomal recessive inborn errors at adrenal steroidogenesis in Korean. Molecular genetic analysis has demonstrated that there are two steroid 21-hydroxylase genes, CYP21A1P and CYP21A2. The CYP21A2 gene encodes P450c21, whereas the CYP21A1P gene is a pseudogene. Since there is 98 percent homology between the CYP21A1P and CYP21A2 gene in nucleotide sequences, it has hampered the characterization of molecular defects in the CYP21A2 gene.In this study, efforts have been made to selectively PCR amplify the CYP21A2 gene and test feasibility of DNA microextraction from Guthrie card for prospective use of molecular screening. This study was also aimed at investigating deletion mutations in P450c21 deficient patients, as well as allele frequencies and average heterozygosity of exon 1 A/C polymorphism in Korean newborns. Genomic DNAs were obtained from Guthrie cards of 50 Korean newborns by microextraction method and these DNAs were analyzed by PCR-allele specific oligonucleotide(ASO) hybridization. First part of the CYP21A2 gene has been successfully amplified and digested by restriction enzyme using Taq I or Kpn I, subsequently run on 1.5% agarose gel to confirm its specificity. The anterior 1141 bp PCR product was utilized to examine the frequency and average heterozygosity of exon 1 A/C polymorphism in 100 alleles by ASO dot blot hybridization. Amplified genomic DNAs from four P450c21 deficient patients out of three families were screened by PCR to see if any one has complete deletion of the CYP21A2 gene.The results were as follows;1) The average 1230ng of genomic DNA was obtained form single semi-circled Guthrie card of 1/2 inch diameter by microextraction method, which has been successfully used for DNA analysis.2) The PCR amplified anterior 1141 bp product from the CYP21A2 gene was digested by Kpn I, generating 309 bp, 832 bp fragments, not by Taq I, indicating its specificity.3) The frequencies of exon 1 nucleotide 138 A/C polymorphism in Korean population were 0.81, 0.91 respectively, and average heterozygosity was 0.31.4) None of four P450c21 deficient patients turned out to carry complete deletion of the CYP21A2 gene based on selective PCR amplification of the CYP21A2 gene.In conclusion, dried blood spots from Guthrie card can be sued for DNA analysis because of easy sample collection, bandling, shipment, and DNA extraction feasibility. The selective PCR amplification of the CYP 21A2 gene will pave the way for molecular characterization in P450c21 deficient patients. The exon 1 A/C polymorphism can by efficiently used for molecular diagnosis of P450c21 deficiency in informative families, though it has a drawback of handling radioactive material.
Adrenal Hyperplasia, Congenital ; Alleles ; Base Sequence ; Diagnosis ; DNA ; Exons ; Gene Frequency ; Humans ; Infant, Newborn ; Mass Screening ; Methods ; Molecular Biology ; Polymerase Chain Reaction ; Prospective Studies ; Pseudogenes ; Sensitivity and Specificity ; Sepharose ; Sequence Deletion ; Steroid 21-Hydroxylase

No abstract available.
Humans ; Keratoderma, Palmoplantar ; Pityriasis Rubra Pilaris ; Pityriasis ; Siblings

BACKGROUND AND OBJECTIVES: Primary intervention by stent implantation during acute myocardial infarction is a novel strategy to provide better myocardial perfusion compared to thrombolysis or baloon angioplasty. We aimed to assess the reperfusion achieved by primary stenting, employing TIMI frame count for more objective and quantitative measurement. MATERIALS AND METHOD: Measurements for number of frames required to opacify standardized angiographic landmark branch(TIMI frame count) were determined for the coronary arteries of 77 normal controls and 65 patients with acute myocardial infarction who underwent primary stenting within 12 hours of symptom onset. RESULTS: In normal subjects, TIMI frame count for left anterior descending artery(LAD) was 1.3 times of mean count of right coronary artery(RCA) and left circumflex artery(LCx), and significant less than that of TIMI study(22.3+/-4.9 vs 36.2+/-2.6, p<0.05). TIMI frame count for RCA and LCx was similar to results of TIMI study. In infarct related arteries(IRA), corrected TIMI frame count(CTFC) after primary stenting was similar to those of normal control. Frame counts of RCA was larger compared to that of normal control, but statistically insignificant(23.0+/-7.5 vs 17.6+/-3.5, p>0.05). There was no difference of CTFC of non-infarct related arteries between patients and normal controls. CONCLUSION: The TIMI frame count of LAD artery in normal Korean subjects was significantly less than that of American counterpart. In patients with acute myocardial infarction, primary stenting appeared to provide improved coronary flow similar to that observed in normal subjects, as measured by TIMI frame counting.
Angioplasty ; Arteries ; Coronary Vessels ; Humans ; Myocardial Infarction* ; Perfusion ; Reperfusion ; Stents*

Urticaria is a common disease and a well known reaction pattern of the skin eharacterized by erythema or wheals and edema, that is the results of a local leakage ef plasma, from minute vessels into the connective tissue of the dermis. Seven hundred and sixty cases of urticaria visited to this department from January 1973 to December 1974 were studied clinically in various ways. Patients were classified as acute and chronic urticaria-acute form when the hives have been present for less than 8 weeks and chronic form when the hives lasted longer. In all patients, a detailed history, a complete physical examination, a total and differential leukocyte count, erythrocyte sedimentation rate and routine stool examination were performed. Foods were incriminated as the exciting causes of urticaria by history, diet elimination test and ingestion test. An ice cube test was done for corroboration of cold allergy. Cholinergic urticaria, was diagnosed by the appearance of small wheals surrounded by erythema after exercise, emotional disturbances or hot drinks. The diagnosis of urticaria due to drug was based on the history of urticaria following the taking of a certain drug. Infection as the inciting cause was determined by history and physical examination. The results: 1. The incidence of urticaria is 4. 6% to total number of dermatologic patients. 2. Among the 760 urticaria patients, acute cases were 498 which were 2 times more than chronic cases, and female patients were 474 cases that revealed marked high incidences than male patients. 3. The age of the patients ranged from 2 months to 87 years, and the patients between 20 and 39 years occupied more than half of the all patients. 4. Abnormal hematologic findings were more marked in acute form; leukocytosis and neutrophilia were dominate in acute form, and lymphocytosis and eosinophilia were more marked in chronic form. 5. Among the etiologic factors, the bacterial infection was the most frequent which occupied 22. 4% of the all urticaria patients. 6. Seven cases of urticaria due to parasites were clonorchis sinensis, in which I had experienced the complete recovery with the treatment of subcutaneous injection of clonorchis sinensis antigen (1: 10,000) 0.01- 0.1ml at the interval of one week. 7. In this study, the inciting or perpetuating causes could not be found in 50.8% of patients-46.2% of acute form and 59.5% of chronic form.
Affective Symptoms ; Bacterial Infections ; Blood Sedimentation ; Clonorchis sinensis ; Connective Tissue ; Dermis ; Diagnosis ; Diet ; Eating ; Edema ; Eosinophilia ; Erythema ; Female ; Humans ; Hypersensitivity ; Ice ; Incidence ; Injections, Subcutaneous ; Leukocyte Count ; Leukocytosis ; Lymphocytosis ; Male ; Parasites ; Physical Examination ; Plasma ; Skin ; Urticaria*

The present study was intended to examine the spectrum of radiographic patterns of the stomach associated withacute and chronic pancreatitis and their complications. Subjects served for the study consisted of 70 cases ofpancreatitis (36 cases in acute stage and 34 cases in chronic stage). Intramural and perigastic permeation ofextravasated pancreatic enzymes and secondary inflammatory reacation that follows are responsible for theardiographic change observed. 1. Generalized rugal thickening and particularly selective mucosal prominences ingreater curvature of body and antrum are characteristically seen in acute(14 of 36 cases
Diagnosis ; Diagnostic Errors ; Pancreatitis, Chronic ; Stomach

Two cases of vertebra plana due to eosinophilic granuloma were experienced and successfully treated by anterior fusion of the involved spines at the department of Orthopedic Surgery in Seoul National University Hospital. Literature on the subject was reviewed.
Eosinophilic Granuloma ; Granuloma ; Orthopedics ; Seoul ; Spine

No abstract available.
Dermoscopy* ; Diagnosis* ; Larva Migrans

No abstract available.
Dermoscopy* ; Diagnosis* ; Larva Migrans

Twenty cases of pulmonary metastases from pathologically proven stomach carcinoma were studies with specialreference to the clinico-radiological findings and the grades of cell-differentiation of stomach carcinoma. Theywere calssifed into five types based on the pattern of chest X-ray findings according to the reportedclassifications of metastatic pulmonary carcinoma. The radiological appearance of pulmoanry metastases formstomach carcinoma was didffferent from that of usual pulmonary metastatic cancers. The Type IV metastatic form(Type IV-Progressive increasing interstitial lung markings and then infiltration of pulmonary parenchyme with orwithout evidence of pleural effusion.) was most commonly seen in stomach carcinoma particularly in poorlydifferentiated cell type and more associates with respiratory symptoms than others.
Lung ; Neoplasm Metastasis ; Stomach ; Thorax

No abstract available.
Arthroplasty, Replacement, Knee*