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.
Hormone Replacement Therapy ; Humans ; Incheon* ; Osteoporosis* ; Physicians, Primary Care* ; Primary Health Care*

No abstract available.
Catheters* ; Renal Dialysis*

PURPOSE: The purpose of this study was to assess the relative diagnostic capability of magnetic resonance angiography(MRA) and CT angiography(CTA) in the evaluation of intracranial aneurysm. MATERIALS AND METHODS: MRA and CTA were performed in 14 intracranial aneurysms (Including four which were ruptured) confirmed in the II patients involved by conventional angiography(CA). The size(in largest dimension) of the aneurysms ranged between 3 mm and 20 mm and the mean was 10.5 mm. For MRA, the 3D TOF method, with magnetization transfer suppression, wasused at 1.5T. For CTA, twenty seconds after beginning the injection of contrast media(100mL with use of a power injector at the rate of 3 mL/sec), CT scanning(30-second exposure and 60-mm length) was performed with a table speed of 2 mm/sec and a section thickness of 2mm. The resulting data were reformatted by MIP. MRA and CTA were compared with regard to the detection of aneurysms and their neck, size, shape, direction, intensity and relationship to adjacent bony structures or vessels. RESULTS: All aneurysms were clearly visualized with CTA. Inone case with a 3-mm aneurysm, however, this was not defined on MRA. Of the 13 aneurysms demonstrated by both MRA and CTA, eight were seen equally well with both modalities. CTA was considered to be superior to MRA in fivecases, either because calcification in the aneurysm wall was seen only on CTA(n = 3) or because the relationship with adjacent bony structures were seen better with CTA(n = 2). With CTA, the intensities of the aneurysm were homogeneous in all cases ; with MRA, however, the intensities of three large aneurysms were different. CONCLUSION: MRA and CTA may be useful in the evaluation of intracranial aneurysm, CTA has specific advantages over MRA inthe evaluation of large aneurysms, calcification of aneurysm wall and relationship with adjacent bony structure.
Aneurysm ; Angiography* ; Cerebral Angiography ; Intracranial Aneurysm* ; Magnetic Resonance Angiography* ; Neck

Many drugs can result in a variety of pathologic reactions in the lung, especially the cytotoxic drugs. Amongcytotoxic drugs bleomycin is a prototype. Bleomycin-related pulmonary toxicity is usually known as dose-dependent and can be enhanced with concurrent oxygen therapy, irradiation, or other chemotherapeutic agents. The incidence of bleomycin-induced pulmonary toxicity has been reported as varying from 2 to 46%, and 1% of fatal lung disease. We describe the radiographic and HRCT findings of bleomycin-related pulmonary toxicity developed in two patients: one in ovarian teratocarcinoma, the other malignant lymphoma patient. Chest radiographs and HRCT of these patients showed ground-glass opacities, consolidation, linear and reticular opacities, and interlobular septal thickening. These abnormalities were bilateral, and symmetrical and were found predominantly in the area of mid-and lower-lung zone.
Bleomycin ; Humans ; Incidence ; Lung Diseases ; Lung* ; Lymphoma ; Oxygen ; Radiography, Thoracic ; Teratocarcinoma

Primary pulmonary amyloidosis is a rare disease, and is classified as either tracheobronchial or parenchymal ; the latter is also divided into nodular and diffuse alveolar septal forms. The alveolar form is extremely rare and usually produces reticular and nodular opacities. We describe a case of alveolar septal pulmonary amyloidosis manifested as multiple small nodules on chest radiograph and disseminated micronodules mainly in centrilobular and subpleural location without reticular opacities, on HRCT.
Amyloidosis* ; Radiography, Thoracic ; Rare Diseases

Adult ; Hand ; Humans ; Parietal Bone ; Rabeprazole ; Skull ; Sutures ; Tissue Donors ; Transplants

No abstract available.
Kidney Transplantation*

Chaenomeles sinensis is known to inhibit the development and progression of many age-related diseases, but the underlying molecular mechanisms are largely unclear. In the present study, we observed that the ethanol extract of Chaenomeles sinensis scavenged 2,2’-diphenylpicrylhydrazyl and 2,2’-azinobis diammonium radicals in vitro. The ethanol extract of Chaenomeles sinensisactivated antioxidant response element-luciferase activity and induced expression of NRF2 target genes in HaCaT cells. The ethanol extract of Chaenomeles sinensis also suppressed LPS-induced expression of COX-2 and iNOS proteins, and mRNA expression of TNF-α and IL-2 in RAW264.7 cells. Finally, the ethanol extract of Chaenomeles sinensis significantly suppressed testosterone propionate-induced benign prostatic hyperplasia in mice. Together, our study provides the evidence that the ethanol extract of Chaenomeles sinensis inhibits the development of benign prostatic hyperplasia by exhibiting anti-oxidant and anti-inflammatory effects.