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.
Neurothekeoma* ; Scalp*

The aim of the present work is to evaluate the most accurate technique for analysirig low levels of serum IgE. Following results are obtained from experiments by PRIST, Overnight PRIST, PRIST using RAST anti-IgE tracer and Overnight PRIST using RAST anti-IgE tracer methods with cord serum and maternal serum of 21 individuals respectively. 1) There was no statistical significance in maternal serum IgE titer using above 4 methods. However, the higher level of IgE titer was found in PRIST method when IgE was over 190 IU/ml(5 cases) estimated by PRIST method and in Overnight PRIST using RAST anti-IgE tracer method when Ig.E was below lgp IU/ml (16 cases) (p40.05). 2) In cord serum IgE titer, only Overnight PRIST using RAST anti-IgE tracer method showed statistical significance. 3) The most desirable correlation coefficient between maternal serum and cord serum IgE titer was estimated by Overnight PRIST using RAST anti-IgE tracer method than any other rnethods.
Immunoglobulin E*

Exogenous lipold pneumonia is an unusual disease resulting from aspiration of oil particles. A history of oil ingestion strongly suggests the diagnosis, but the radiological presentation varies from mild perihilar consolidation to diffuse and extensive bilateral involvement, particularly of the posterior basal segment of both lower lung(l). Since magnetic resonance(MR) provides greater contrast resolution than CT, it offers the potential for tissue characterization. In particular, fatty tissue and lipid containing substances are known to have high signal intensities on T1- and T2-weighted spin-echo (SE) images. We report MR findings in two case of exogenous lipold pneumonia caused by ingestion of shark liver oil(Squalene).
Adipose Tissue ; Diagnosis ; Eating ; Liver ; Pneumonia* ; Sharks

No abstract available.
Anemia, Hypoplastic, Congenital*

The concept of workers' participation in occupational health was introduced to Korea recently in relation to primary health care in occupational health. But there is confusion and debate about workers' participation concept. The purpose of this study was to review the concepts of workers' participation and to conduct evaluation the workers' participation status in occupational health and safety. 394 workers and 54 employers (5.6%) in north area of Kyunggi-Do, were selected and interviewed with a questionnaire by a trained interviewer from August to September 1990. In general, the concept of workers' participation is based on industrial democratization and Declaration of Human Rights which had been powerful ideologies in labor movement. Contrary to workers' participation, community participation is rooted in the Health Rights. So, it is necessary to consider concept of workers' participation to improve participation. The results of survey were as follows: 1. Most of companies (71.75) carried out occupational health education to workers in study area. 2. The Occupational Safety and Health Committee (OSHC) were set up in 24.1% among the study companies, and 72.7% of workers among respondents thought that OSHC was helpful to workers health. 3. The workers signed his name to personal health report in 43.1% and the rate of participation in occupational environment examination was 54.9%. 4. The workers prefer the OSHC (39.3%), owner (35.1%) and union (25.8%) as a occupation health organization, but owners prefer OSHC (54.5%), manager (43.2%) and union (2.3%). 5. Among the factors of the general characteristics, the existence of labor union was a major determinant of workers' attitude and level of workers' participation. As we have seen, most levels of workers' participation are low in occupational health. The variable of existence of labor union among the factors was a major determinant of workers attitude and level of workers' participation. Therefore, in order to promote workers health, it is necessary to ponder long deeply on occupational health care system under the viewpoint of workers' participation.
Consumer Participation ; Surveys and Questionnaires ; Education ; Gyeonggi-do ; Human Rights ; Humans ; Korea ; Labor Unions ; Occupational Health ; Occupations ; Primary Health Care ; Surveys and Questionnaires

No abstract available.
Gastrointestinal Tract*

OBJECTIVE: We analyzed the clinical features of amniotic fluid embolism confirmed by autopsy or clinical dicision for making a plan of rapid diagnosis and intensive emergency care. STUDY DESIGN: We experienced 2 clincal cases in Ewha Mokdong Hospital and Severance Hospital at 1995, and reviewed the medical record & autopsy report of 15 cases in National Institute of Scientific Investigation from Jan, 1991 to Dec, 1995. RESULTS: The mean maternal age was 31+/-3 years. The mean gestational age was 40+/-1 weeks. The number of delivery were 1.4+/-0.8. The number of abortion history. were 2.6+/-2. The sexuality of fetus were six males (35 %), five females (29%), and unknown six cases (35 %) and the fetal mortality rate was 29 % (5 cases). The initial clinical symptoms and signs were hypotension (12 patients, 71%), vaginal bleeding(ll patients, 65%), cardiac arrest (6 patients, 35 %), dyspnea (5 patients, 29 %), and seizure (2 patients, 12%). In the case of normal spontaneous vaginal delivary (NSVD), the symptoms occurred during induction in 3 (18%), during delivery in 1 (6%), and after delivery in 9 (53%). In the case of Cesarean section, the symptoms occurred during section in 2 (12%), and after section in 1 (6%). There are one case whose symptoms occurred during 3rd gestational period. CONCLUSIONS: We should alert for the amniotic fluid embolism in the clinical findings of acute collapse and vaginal bleeding, respiratory symptoms, and seizure at any peripartum. With eary suspicion of this disease and aggressive intensive care we can reduce amniotic fluid embolism mortality rate and it's legal problem.
Abortion, Induced ; Amniotic Fluid* ; Autopsy ; Cesarean Section ; Diagnosis ; Dyspnea ; Embolism, Amniotic Fluid* ; Emergency Medical Services ; Female ; Fetal Mortality ; Fetus ; Gestational Age ; Heart Arrest ; Humans ; Hypotension ; Critical Care ; Male ; Maternal Age ; Medical Records ; Mortality ; Peripartum Period ; Pregnancy ; Seizures ; Sexuality ; Uterine Hemorrhage

The influence of serum IgE level on T cell function and number in atopic dermatitis was performed. For the study we selected 2 groups of atopic derrnatitis patients which were 10 cases of atopic dermatitis patients with more than 400 IU/ml of serum 1gE level and 1(l cases with less than 400 IU/ml, The lymphocyte transformation test with phytohernagglutinin and E-rosette test with AET treated sheep cell were perforrned in each group and compare the result of each group with each other and al'o with those of control group. The reults are as follows; l. The mean serum level of IgE in AD(538. 8 407.42 IU/ml) was higher than in normal control(126. 5 133, R8 IU/ml) (p<0.01). 2 The mean LTT S.I. in AD(8.83 -3.85) was lower than in nomnal control (13.99 5.55) (p<0.01). 3. The mean percentage of E-rosette in AD(68,65+6.6g) was lower than 4pp IU/ml(mean+2x SD of serum IgE of control groups), 1) The LTT S, I. was decreased in both groups according to increment of serum IgE, The higher IgE group(8.64+3,9p) had statistical significance compared to normal control(13.gg+5.55) (p<0.01) but not in low IgE group(9.08:4.11).2) The percentage of E-rosette was decreased in both groups according to increment of serum IgE. The both groups of low IgE(71.08.-6,24) and high IgE(66. 22 6. R7) had statistical significance compared to normal control(77.65+4.39 %) (p 0.01).
beta-Aminoethyl Isothiourea ; Dermatitis, Atopic* ; Humans ; Immunoglobulin E* ; Lymphocyte Activation ; Sheep

No abstract available.
Mesenteric Artery, Superior*