BACKGROUND: Through a genome-wide search using the genetic markers(RFLP genetic markers), the familial hypertrophic cardiomyopathy(FHCM) with an autosomal dominant mode of inheritance has been firstly detected to be genetically linked to chromosome 14q1. The subsequent studies have shown that the point mutations at the exons encoding for the head and head /rod junction of the cardiac beta myosin heavy chain(beta-MHC) are the most frequent type of mutation in the FHCM families genetically implicated with a linkage to beta-MHC, whereas the alpha/beta-MHC hybrid gene and a large deletion at the 3' region of beta-MHC gene were also rarely detected. With the other families genetically implicated with the chromosomes 1,11,15,16 and 18, FHCM also manifests locus heterogeneity, a phenomenon in which abnormalities at different genes are involved in different families. In addition, a korean FHCM family with 403Arg-->Gln mutation of beta-MHC gene has been previously found by an american research group. METHODS: For clinical diagnosis, echocardiography and electrocardiography were performed on the individual members of a korean FHCM family. The microsatellite markers(MYO-I,MYO-II) located in the beta-MHC gene region were amplified by PCR(polymerase chain reaction) and the polymorphism was analyzed for the possible linkage to the phenotypic expression of FHCM. Independently, the same PCR products of the exons 13 and 23 were digested with the specific restriction enzymes for the presence of the most frequently reported point mutations of beta-MHC gene (403 and 908 amino acid mutations). Single strand conformation polymorphism(SSCP) of the exon 13 and 23 of the beta-MHC gene was also analyzed of the mobility shift expected if any point mutation is present at these two exons. RESULTS: The inheritance pattern of HCM(hypertrophic cardiomyopathy) in the family is considered as autosomal dominant. In this family(KU 101), one of the microsatellite markers(MYO-II) indicated the possible cosegregation between the allele was also present in the 32-year-old brother of the proband, who reveals no clinical signs of the disease. The other microsatellite genetic marker(MYO-I) was uninformative, without giving the discriminating power to verify the linkage to beta-MHC gene. In the analysis for two common mutations of beta-MHC gene by PCR-RFLP and PCR-SSCP, no evidence was found for 403 and 908 amino acid mutations and any point mutation in the exons 13 and 23. CONCLUSIONS: Based on the linkage analysis using microsatellite genetic markers, there was a possibility that the disease could be linked to an abnormality in the beta-MHC gene of the chromosome 14q1.
Adult ; Alleles ; Cardiomyopathy, Hypertrophic, Familial* ; Diagnosis ; Echocardiography ; Electrocardiography ; Exons ; Genetic Markers ; Head ; Humans ; Inheritance Patterns ; Mass Screening* ; Microsatellite Repeats ; Point Mutation ; Polymerase Chain Reaction ; Population Characteristics ; Siblings ; Ventricular Myosins* ; Wills

BACKGROUND: Through a genome-wide search using the genetic markers(RFLP genetic markers), the familial hypertrophic cardiomyopathy(FHCM) with an autosomal dominant mode of inheritance has been firstly detected to be genetically linked to chromosome 14q1. The subsequent studies have shown that the point mutations at the exons encoding for the head and head /rod junction of the cardiac beta myosin heavy chain(beta-MHC) are the most frequent type of mutation in the FHCM families genetically implicated with a linkage to beta-MHC, whereas the alpha/beta-MHC hybrid gene and a large deletion at the 3' region of beta-MHC gene were also rarely detected. With the other families genetically implicated with the chromosomes 1,11,15,16 and 18, FHCM also manifests locus heterogeneity, a phenomenon in which abnormalities at different genes are involved in different families. In addition, a korean FHCM family with 403Arg-->Gln mutation of beta-MHC gene has been previously found by an american research group. METHODS: For clinical diagnosis, echocardiography and electrocardiography were performed on the individual members of a korean FHCM family. The microsatellite markers(MYO-I,MYO-II) located in the beta-MHC gene region were amplified by PCR(polymerase chain reaction) and the polymorphism was analyzed for the possible linkage to the phenotypic expression of FHCM. Independently, the same PCR products of the exons 13 and 23 were digested with the specific restriction enzymes for the presence of the most frequently reported point mutations of beta-MHC gene (403 and 908 amino acid mutations). Single strand conformation polymorphism(SSCP) of the exon 13 and 23 of the beta-MHC gene was also analyzed of the mobility shift expected if any point mutation is present at these two exons. RESULTS: The inheritance pattern of HCM(hypertrophic cardiomyopathy) in the family is considered as autosomal dominant. In this family(KU 101), one of the microsatellite markers(MYO-II) indicated the possible cosegregation between the allele was also present in the 32-year-old brother of the proband, who reveals no clinical signs of the disease. The other microsatellite genetic marker(MYO-I) was uninformative, without giving the discriminating power to verify the linkage to beta-MHC gene. In the analysis for two common mutations of beta-MHC gene by PCR-RFLP and PCR-SSCP, no evidence was found for 403 and 908 amino acid mutations and any point mutation in the exons 13 and 23. CONCLUSIONS: Based on the linkage analysis using microsatellite genetic markers, there was a possibility that the disease could be linked to an abnormality in the beta-MHC gene of the chromosome 14q1.
Adult ; Alleles ; Cardiomyopathy, Hypertrophic, Familial* ; Diagnosis ; Echocardiography ; Electrocardiography ; Exons ; Genetic Markers ; Head ; Humans ; Inheritance Patterns ; Mass Screening* ; Microsatellite Repeats ; Point Mutation ; Polymerase Chain Reaction ; Population Characteristics ; Siblings ; Ventricular Myosins* ; Wills

Lipoma is one of the unusual benign breast neoplasms and usually manifests at fatty breast of women at the age of 40 to 60. We experienced a case of large breast lipoma nearly replacing the whole left breast parenchymal tissue with mammographic finding of well-defined radiolucent mass, sonographic finding of hyperechoic mass with disorganized echopattern and computerized tomographic finding of very low attenuation mass, characteristic to adipose tissue, in a young woman of her dense breast.
Adipose Tissue ; Breast Neoplasms ; Breast* ; Female ; Humans ; Lipoma* ; Ultrasonography

PURPOSE: The purpose of this study was to identify the health behaviors by a risk level of metabolic syndrome (MS) among petty merchants in traditional markets. METHODS: The data were collected through questionnaires and physical examination on abdominal circumstance, triglyceride, HDL, blood pressure, and FBS of 177 subjects in S city, Korea. The data were analyzed by descriptive statistics, chi2-test (or fisher's exact test) and ANOVA using SPSS/WIN 18.0 program. RESULTS: The prevalence of MS was 15.8%, and risk group was 72.9%. The abdominal circumstance and triglyceride levels were higher in MS group than those of the risk group and normal group. The HDL and systolic blood pressure levels were also higher in MS group than those of the normal group. CONCLUSION: The prevalence of MS and risk groups was high among petty merchants in traditional markets. However, these merchants did not practice health behaviors nor take institutional health management benefit. Therefore, governmental level community based health management services are requested for them.
Blood Pressure ; Health Behavior ; Korea ; Physical Examination ; Prevalence ; Surveys and Questionnaires

Thanatophoric dysplasia is the most common lethal congenital chondrodysplasia with characteristic features of narrow thorax, short rib, severe platyspondyly, short bowed limbs and skull deformity, etc. It is not a hereditary disorder and there is usually no family history of dysplasia. We experienced a case of thanatophoric dysplasia at 38 weeks of gestation with antenatal sonographic and abdominal radiographic findings of small thorax, short bowed extremities with surrounding thickened soft tissues and marked platyspondyly. Soon atter delivery, the baby died and post-mortem radiographs showed the characteristic findings of thanatophoric dysplasia.
Congenital Abnormalities ; Extremities ; Humans ; Pregnancy ; Ribs ; Skull ; Thanatophoric Dysplasia* ; Thorax ; Ultrasonography

Male Breast cancer is an uncommon disease with an incidence of I per cent of all breast cancers. Male breast cancer usually appears as a small mass with well-defined contour which is eccentrically located in relation to the nipple on mammogram. We report a case of breast cancer in a 51-year-old man with mammographic appearance of large hyperdense mass with nipple inversion and axillary lymphadenopathy, gray-scale sonographic finding of homogeneous solid mass and mu Itiple tumor vessels with in the mass on color Doppler ultrasound.
Breast ; Breast Neoplasms ; Breast Neoplasms, Male* ; Humans ; Incidence ; Lymphatic Diseases ; Male ; Male* ; Middle Aged ; Nipples ; Ultrasonography

PURPOSE: This study was a descriptive research to investigate the impact for middle aged women of health perception, self-efficacy, family support on Yangsaeng, a traditional Oriental way of promoting health. METHOD: Data were collected through questionnaires from 277 middle aged women. Collected data were analyzed using PASW Statistics 18. Analysis included descriptive statistics, t-test, ANOVA, Pearson correlation coefficient and stepwise multiple regression. RESULTS: There was a statistically significant difference in Yangsaeng according to average monthly household income. There was a significant positive correlation between Yangsaeng and self-efficacy, family support, and health perception. Health perception, family support, self-efficacy, and monthly income were found to be significant predictors (36%) of Yangsaeng. CONCLUSION: To promote Yangsaeng in middle aged women, nurses should focus on factors identified in this study when developing nursing interventions for health promotion.
Family Characteristics ; Female ; Health Promotion ; Humans ; Middle Aged* ; Nursing ; Surveys and Questionnaires ; Self Efficacy

PURPOSE: To assess the efficacy of ancillary CT findings other than the obstructive lesion per se for the differential diagnosis of extrahepatic biliary obstruction. MATERIALS AND METHODS:CT findings of 49 patients with extrahepatic bile duct obstruction(22 benign and 27 malignant lesions) were assessed with emphasis on the patterns of ductal dilatation, contrast enhancement, and diffuse thickening of the extrahepatic ductal wall. Degree of central and peripheral intrahepratic ductal dilatation was graded by comparing with the adjacent portal radicles and hepatic parenchymal thickeness. RESULTS: Diffuse circumferential thickening and contrast enhancement of the extrahepatic ductal wall were more frequent in benign cases, but only thickening was statistically significant(p < 0.01). Peripheral intrahepatic ducts were more severely dilated by malignant causes(p < 0.01). With the same degrees of extrahepatic and central ductal dilatations, peripheral intrahepatic ducts were more severely dilated in malignant than in benign cases. CONCLUSION: These results may help to interpret the CT findings of extrahepatic biliary obstruction, particularly when the cause of biliary obstruction is uncertain.
Bile Ducts, Extrahepatic ; Diagnosis, Differential ; Dilatation* ; Humans

PURPOSE: This study was to developed to create a CD-ROM and an educational program for the prevention of sexual harassment and violence and to contribute to the perception and add to the coping of the victims of sexual harassment and violence as well as the child, parents, and teachers. METHOD: The study's methods were literature reviews, surveys, and assessments of the negotiation process for educational needs of sexual harassed and abused children. RESULT: The sexual harassment and violence prevention program will contain four subjects : 1) sexual development of a preschool child, 2) characteristics of sexual harassment and violence of a preschool child, 3) safe sex, early detection of sexual violence syndrome, and coping strategies. The CD-RON was composed from three sites. The first was a child site, the second was a parent/teacher site, and the third was a game site for evaluations. The child site consisted of 10 possible scenarios of sexual harassment and violence that a child could experience. The parent/teacher site consisted of knowledge and information for prevention and coping strategies for sexual harassment and violence. At the end of each situation question and answer sections that were used for formative evaluation. Also, the game site could be a summative evaluation. CONCLUSION: The effects of this program and the CD-ROM were based of the promotion of reverence for humanity and gender equality for preschool childen. Eventually, children, parents, and teachers will have prevention and coping ability that will reduce the occurrence of sexual harassment and violence in Korea.
CD-ROM* ; Child ; Child, Preschool* ; Humans ; Korea ; Negotiating ; Parents ; Safe Sex ; Sex Offenses* ; Sexual Development ; Sexual Harassment* ; Violence

PURPOSE: To evaluate the clinical efficacy and durability of transurethral microwave thermotherapy (TUMT) in the treatment of benign prostatic hyperplasia, the useful clinical factors were retrospectively investigated. MATERIALS AND METHODS: Between September 1997 and July 2003, 113 patients with symptomatic benign prostatic hyperplasia were treated with TUMT (Prostatron with Prostasoft 2.5). 64 patients were followed up at 3, 6 and 12 months after treatment. Treatment outcomes were evaluated by the International Prostate Symptom Score (IPSS), quality of life (QoL) score and by urodynamic investigation. The patients were divided into responders and non-responders on the basis of their response evaluation criteria. RESULTS: The mean IPSS, QoL score, peak flow rate, mean flow rate and post-voiding residual volume were significantly improved after TUMT (p<0.05). The pretreatment QoL score of the responders was significantly lower than that of the non-responders (p<0.05), and peak and average flow rates of the responders were significantly higher than those of the non-responders (p<0.05). Lower prostate-specific antigen (PSA), lower residual volume and higher energy had trends toward a good prognosis (0.05 Humans ; Prognosis ; Prostate ; Prostate-Specific Antigen ; Prostatic Hyperplasia* ; Quality of Life ; Residual Volume ; Retrospective Studies ; Transurethral Resection of Prostate* ; Urodynamics