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

No abstract available.
Anetoderma* ; Granuloma Annulare* ; Granuloma*

Thirty-nine patients with pityrosporum folliculitis were investigated clinically and histopathologically. On clinical observation there were numerous, chronic, moderately itchy (64.1%), dome-shaped papules (89.7%) and pustules (66.7%). The most frequent sites of the lesions were the upper portion of the chest (76.9%) and back (56.4%). In biopsy specimens, abundant round and budding yeast cells were seen in a dilated hair follicle. The reptured follicle was observed in 19 specimen (48.7%). The accumulation on inflammatory cells were observed in or around the upper part of the follicle in all specimens. The effect of antimycotic treatment was excellent. After 4 weeks of treatment, 36 patients (92%) were cured and 3 (8%) had improved significantly. KOH/Parker Ink direct smear was done in 20 patients. Blue-colored round and budding yeast cells were observed under a light mcroscope in all patients. We suggest that pityrosporum folliculitis is a common disease of young and middle-aged Koreans.
Biopsy ; Folliculitis* ; Hair Follicle ; Humans ; Ink ; Malassezia* ; Saccharomycetales ; Thorax ; Yeasts

It is known in general that neoplasms of smooth mucsle appear very rarely in the oral region, probaly because in the oral region with histopathologic investigations have been reported. This report presents an unusual case of angioleiomyoma that developed on the lower lip of a 48-year the course of one year and the immunohistochemical findings of the angioleiomyyoma are described.
Angiomyoma* ; Lip*

We report an extremely rare case in which two tuberculids, papulonecrotic tuberculid and erythema nodosum, occurred together. A 16-year-old girl had two types of clinically distinct lesions; asymptomatic necrotic papules on the upper and lower extremities and painful subcutaneous nodules on the legs. A Mantoux test showed a strong positive reaction. Histopathologic findings of the necrotic papule and subcutaneous nodule were consistent with papulonecrotic tuberculid and erythema nodosum, respectively. There was no extracutaneous focus of tuberculosis. Polymerase chain reaction for tuberculous bacilli in the papulonecrotic tuberculid lesion revealed a negative result. Antituberculous therapy brought a rapid clinical improvement of both lesions.
Adolescent ; Erythema Nodosum* ; Erythema* ; Female ; Humans ; Leg ; Lower Extremity ; Polymerase Chain Reaction ; Tuberculosis ; Tuberculosis, Cutaneous*

BACKGROUND: The aim of the study was to determine prevalence of potential heterogeneous vancomycin-resistant Staphylococcus aureus (h-VRSA) among methicillin-resistant S. aureus (MRSA) isolated in Korea by using Mu-3 agar and to determine the effect of in vitro vancomycin exposure on the resistance. METHODS: MRSAs isolated in 1980-1999 were screened for the presence of VISA or h-VRSA using Mu-3 agar. MIC of vancomycin was tested by NCCLS agar dilution and broth microdilution tests. Suspected h-VRSA were selected by vancomycin-containing media and change of resistance was determined by population analysis. A strain with Mu50 type growth was serially exposed to 8 pg/ml of vancomycin containing media and change of the vancomycin resistance was determined. RESULTS: Among the 455 MRSA isolates, 18 (3.9 %) grew on selective brain heart infusion agar (BHIA), and 354 (77,8%) on Mu-3 agar, 66 (14.5%) with Mu3 type growth and 78 (17.1%) with Mu50 type growth. MIC of vancomycin was 11 pg/ml for some of the isolates when inocula were approximately 10' CFU, but VISA was not present when tested by NCCLS broth microdilution test. Exposure of the isolates to van-cornycin raised the MIC. Serial exposure once to 8 pg/ml of vancomycin resulted in significant decrease of cells susceptible to 8-12 pg/ml of vancomycin. CONCLUSION: VISA was not present among the test isolates, but 34.2% were suspected to be potential h-VRSAs, suggesting possible emergence of VISA if vancomycin was administered prolonged period. It is considered that suitable screening media are vancomycin containing BHIA for VISA and Mu-3 agar for h-VRSA. The isolates showing Mu50 type growth on Mu-3 agar are not always VISA, but rather h-VRSA.
Agar* ; Brain ; Heart ; Korea ; Mass Screening ; Methicillin Resistance ; Methicillin-Resistant Staphylococcus aureus ; Prevalence ; Staphylococcus aureus* ; Staphylococcus* ; Vancomycin Resistance ; Vancomycin*

We report a case of a congenital, melanocytic nevus showing spontaneous regression. At birth, a pigmented lesion, 4 × 6.5cm, was already present on the scalp. At the age of 20 days, the center of the lesion became crusted with a purulent discharge. Following healing of the inflammed lesion, the nevus showed a tendency to regress, starting from the previously inflammed site. At the age of 11 months, the nevus showed marked regression, leaving an atrophic and depigmented center with pea-sized papules and a thin, pigmented rim. Skin sections taken from the central depigmented area showed marked fibrosis and scanty nevus cell nests in the dermis. Histological examination of the pea-sized papule in the center of the lesion repealed large epithelioid cells with abundant cytoplasm dispersed between the collagen fibers; it resembled a spindle cell and epithelioid cell nevus with epithelioid cells predominating. There were no clinical or histologically malignant changes.
Collagen ; Cytoplasm ; Dermis ; Epithelioid Cells ; Fibrosis ; Nevus ; Nevus, Pigmented* ; Parturition ; Scalp ; Skin

Blink reflex (BR) was known as a useful test fordetection of brainstem lesions and cranial neuropathy. We performed BR test in 52 non-insulin dependent diabetics, and the results were compared with 26 controls. In diabetics, 23 patients (44.2%) had abnormal results with delayed R1 in 20 (38.5%), delayed ipsilateral R2 in 6 (11.5%) and delayed contralateral R2 in 4 (7.7%). BR abnormalities were related to age and presence of peripheral neuropathy, but not related to duration of diabetes and fasting blood sugar level. It is suggested that BR test could be an additional electrodiagnostic tool for the diabetic neuropathy, especially to evaluate a subclinical brainstem or cranial nerve involvement.
Blinking* ; Blood Glucose ; Brain Stem ; Cranial Nerve Diseases ; Cranial Nerves ; Diabetic Neuropathies ; Fasting ; Humans ; Peripheral Nervous System Diseases

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