No abstract available.
Diabetic Neuropathies* ; Neural Conduction*

No abstract available.
Carpal Tunnel Syndrome* ; Diabetic Neuropathies*

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

Angiofollicular lymph node hyperplasia(AFLNH) was first described in 1956 by Castleman et al. It was initially reported as a solitary mediastinal mass but multicentric and extranodal disease is now well known. Histologically two distinct variants, e.g. the hyaline vascular type and the plasma cell type, of AFLNH are recognized. And the plasma cell type is typically associated with clinical syndrome consisting of fever, anemia, elevated erythrocyte sedimentation rate and polyclonal hypergammaglobulinemia. Recently, we experineced three cases of AFLNH. Histologically, two cases were hyaline vascular type, that were presented as a right supraclavicular mass of 49-year-old female, and as an anterior mediastinal mass of 53-year-old female. The remaining one case was plasma cell type that was presented as a left axillary mass of 63-year-old male. The former two cases showed typical features of hyaline vascular type but in case 1, exuberant proliferation of hyalinized vessels of capillary size was characteristic feature. The latter case of plasma cell type characteristically showed clinical syndrome consisting of fever, hypoalbuminemia, polyclonal hypergammaglobulinemia. All cases were presented as a single mass and they were well after surgical excision.
Female ; Humans

No abstract available.
Child* ; Granular Cell Tumor* ; Humans

PURPOSE: For choledocholithiasis, many doctors routinely use ERCP/EST to avoid the need for common bile duct exploration. But, ERCP/EST has some weakpoints. So it may not be a first choice for management, especially in secondary hospitals. Therefore, we investigated and reviewed results of LCBDE as a first treatment for common bile duct stones. METHODS: This study was a retrospective analysis of 60 cases that could be reviewed by their medical charts and who underwent LCBDE performed by the same surgeon at the Yeosu Chonnam Hospital between March, 1996 and August, 2009. The clinical data were compared between each two groups (1996~1999 vs 2000~2009 years, primary closure vs T tube drainage). RESULTS: Between groups A and B, there were no significant differences in preoperative status of the patient except for age (60.5 vs 72.6). The average operative time was decreased in group B (171.6 mins vs 143.0 mins) and the number of trocars was decreased in group B (4 vs 3.2). There were 13 postoperative complications. Among them, 11 were cases of bile leakage. All of the bile leakage cases were in group B. And there were more bile leakages in the primary repair group than in T tube drainage group (50% vs 8.9%). But, 10 cases of bile leakage were improved completely by observation and conservative treatment. CONCLUSION: LCBDE is a safe and useful treatment that has several advantages and can overcome problems not solved by ERCP. Fatal complications were not increased in the primary repair group compared with the T tube drainage group.
Bile ; Cholangiopancreatography, Endoscopic Retrograde ; Choledocholithiasis ; Common Bile Duct ; Drainage ; Humans ; Operative Time ; Postoperative Complications ; Retrospective Studies ; Surgical Instruments

PURPOSE: The purposes of this study were to compare confidence in practice of intermittent gavage tube feeding and participants' satisfaction by three types of feedback; professor verbal feedback, professor feedback with smartphone video, and peer feedback with smartphone video. In addition, frequently failed items in the intermittent gavage tube feeding procedure were analyzed. METHODS: Data were collected from a convenience sample of 78 nursing college students in November 2014. Students were randomly assigned to the control group, experimental group I (smartphone video with professor feedback) or group II (smartphone video with peer feedback). Data were analyzed using descriptive statistics including chi-square test, ANOVA, and Scheffe test with SPSS 21.0. RESULTS: Confidence in practice of intermittent gavage tube feeding and satisfaction with feedback were highest in experimental group I that had professor feedback with smartphone video. For the procedure, the most frequently failed item was giving an explanation to patients about the purpose and the procedure of tube feeding. CONCLUSION: The results indicate that professor verbal feedback with smartphone video is the most benefit to the nursing students in acquiring core nursing practice skills.
Enteral Nutrition* ; Humans ; Nursing* ; Students, Nursing*

No abstract available.
Animals ; Photoreceptor Cells* ; Rats* ; Retina*

No abstract available.
Carney Complex* ; Hyperplasia* ; Myxoma* ; Nevus, Blue* ; Testis*