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

Two cases of vaginal injury due to Coitus are presented. One is the case of the laceration of midportion of posterior vaginal wall with shock and the other one in the laceration of posterior vaginal fornix and pelvic peritoneum. They are all in multiparity. And a review of literature on vaginal injury due to coitus is made briefly.
Coitus* ; Female ; Lacerations ; Parity ; Peritoneum ; Shock

Acral persistent papular mucinosis is a subtype of the localized papular mucinosis. Clinically, ivory to flesh-colored papules develop exclusively on the back of the hands, the extensor surface of the wrists, and occasionally the distal forearms. Histologically, mucin accumulates in the upper reticular dermis, typically sparing a subepidermal zone and fibroblasts are not increased in number. On experiencing a case of numerous papules on both hands and forearms of a fifty year-old woman, we present it as acral persistent papular mucinosis.
Dermis ; Female ; Fibroblasts ; Forearm ; Hand ; Humans ; Mucins ; Scleromyxedema* ; Wrist

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

We have recently experienced a case of cysticercosis treated with praziquantel. The patient, 22-year-old female, with 43 cystic masses had marked clinical response to the administration of praziquantel (75 mg/kg/day) for 7 days. It seems that praziquantel, anticestodal agent, might be a safe and effective therapy for this infection.
Cysticercosis* ; Female ; Humans ; Praziquantel* ; Young Adult

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.
Mesenteric Artery, Superior*

No abstract available.
Carcinoma, Renal Cell* ; Caveolin 1*

No abstract available.
Fever ; Humans ; Still's Disease, Adult-Onset* ; Urticaria*

A 10-year-old boy with arteriovenous malformation (AVM) of the right lower limb was scheduled for an amputation of the affected limb. Limb amputation was necessary because of the ineffectiveness of previous sclerotherapy and the rapid progression of AVM causing pain and heart failure. Right hip disarticulation was considered the best option to improve his quality of life. To prevent congestive heart failure and uncontrollable hemorrhage during surgery, the disarticulation was done under a partial cardiopulmonary bypass. The patient underwent surgery successfully without complications.
Amputation ; Arteriovenous Malformations* ; Cardiopulmonary Bypass ; Child ; Disarticulation ; Extremities ; Heart Failure ; Hemorrhage ; Hip ; Humans ; Lower Extremity* ; Male ; Quality of Life ; Sclerotherapy