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

PURPOSE: To report the clinical efficacy and safety of progressive keratoconic eyes in Korean patients treated with accelerated corneal cross-linking. METHODS: This retrospective study focused on progressive keratoconic eyes in Korean patients that underwent accelerated corneal cross-linking from February 2015 to October 2015. Keratoconus was diagnosed in 45 eyes in 30 patients. After accelerated corneal cross-linking with VibeX rapid solution, best corrected visual acuity, maximum keratometry, mean keratometry, corneal thickness, corneal astigmatism, and endothelial cell count were measured at the preoperative visit and post operation 1 week, 1 month, 3 months, and 6 months. RESULTS: Best corrected visual acuity (log MAR) was 0.51 ± 0.23 at pre operation and 0.51 ± 0.26 at post operation 6 months, showing no improvement. The maximum keratometry measured with Auto K, Pentacam, and Orbscan II at pre operation was 49.11 ± 4.5 D, 48.37 ± 3.31 D, and 48.98 ± 4.88 D and changed to 49.29 ± 4.34 D, 46.99 ± 3.63 D, and 47.01 ± 3.62 D postoperatively, respectively. Only Pentacam and Orbscan II measurements showed a statistically significant decrease (p < 0.05). Corneal thickness (at the thinnest area) was measured with Pentacam and Orbscan II; pre-operative and post-operative 6 month data showed changes from 485 ± 26.27 and 479.24 ± 27.89 to 471.64 ± 27.12 and 472.52 ± 25.36, respectively. Only the Pentacam method resulted in a statistically significant decrease. Endothelial cell count was measured with confocal microscopy and showed a statistically significant difference between pre-operative 2,857 ± 390.49/mm² and post-operative 6 month 2,639.21 ± 249.92/mm². CONCLUSIONS: This 6-month follow-up study of Korean keratoconus patients who underwent accelerated corneal cross-linking indicates that the method is effective in stabilizing the progression of keratoconus, according to maximum keratometry change. With regard to endothelial cell count change, further long-term evaluation is required. Other than endothelial cell count change, this procedure is expected to show long-term safety comparable to that of conventional corneal cross-linking.
Astigmatism ; Collagen* ; Endothelial Cells ; Follow-Up Studies ; Humans ; Keratoconus* ; Methods ; Microscopy, Confocal ; Retrospective Studies ; Treatment Outcome ; Visual Acuity

Purpose: To study the risk factors for steroid-induced glaucoma patients requiring glaucoma surgery, despite being fully treated with medications and laser trabeculoplasty. Methods: The charts of 50 eyes diagnosed with steroid-induced glaucoma from January 2012 to December 2015 were reviewed retrospectively. 28 eyes required surgery and 22 eyes were successfully treated with medications and laser trabeculoplasty. The demographic information as well as ocular parameters, presence of ocular/systemic comorbidities, and past history of steroid use were evaluated to determine the risk factors associated with the need for glaucoma surgery. Results: For the 7 factors that were statistically significant by univariate regression analysis, multivariate regression analysis showed that the average retinal nerve fiber layer thickness and duration of steroid use were not statistically significant (p = 0.876 and p = 0.068, respectively), whereas age and initial intraocular pressure were only statistically significant in some of the analysis models (p = 0.040-0.278, p = 0.016-0.201, respectively). Myopia, vertical cup-to-disc ratio, and systemic comorbidities had statistically significant correlations (p = 0.019, p = 0.011-0.03, p = 0.022, respectively) with surgical decision by multivariate regression analysis. Conclusions The risk factors for requiring glaucoma surgery in steroid-induced glaucoma patients were young age, myopia, initial optic nerve damage, systemic disease (systemic lupus erythematosus, rheumatoid arthritis, and atopy), and duration of steroid use. These results may be helpful in predicting the prognosis of patients with steroid-induced glaucoma and in screening for patients who require a more aggressive treatment at the time of disease presentation.

Wegener's granulomatosis is a distinct form of necrotizing granulomatous vasculitis which usually affects the kidneys and the upper and lower respiratory tracts. Unusual manifestations have also been reported, and these include colitis, urethritis and diabetes insipidus. We describe a case of Wegener's granulomatosis which presented with rapidly progressive renal insufficiency, sudden deafness, red eye, facial palsy, and complicated by uncommon manifestations that were diffuse pulmonary hemorrhage and thrombotic thrombocytopenic purpura.
Aged ; Cyclosporine/therapeutic use ; Female ; Hemorrhage/complications* ; Human ; Lung Diseases/complications* ; Prednisolone/therapeutic use ; Purpura, Thrombotic Thrombocytopenic/complications* ; Wegener's Granulomatosis/drug therapy ; Wegener's Granulomatosis/diagnosis ; Wegener's Granulomatosis/complications*

BACKGROUND: Oral beta-blocker is initially used to prevent the symptons in patients with vasovagal syncope or presyncope. But, beta-blocker treatment may actually cause worsening of symptoms in some patients. The purpose of the present study was to evaluate the efficacy of oral beta-blocker in preventing symptoms during repeat head-up tilt test in patients who had a positive response in initial head-up tilt test. METHOD: Patients. Among the 150 patients with unexplained syncope or presyncope who underwent head-up tilt from October 1994 to January 1996, forty-three patients, who were taking beta-blocker and underwent repeat head-up tilted test, were included in this study. Initial head-up tilt test. Each patients was tilted to the 70 degree upright position for 30 minutes. If the test was negative in the baseline tilt, intravenous isoproterenol was started at 1 (micro)g/min and then increased by 1 (micro)g/min every three minutes to al maximum of 5 (micro)g/min while maintaining 70 degree upright position. Repeat head-up tilt test. The test was repeated while each patients was taking atinolol. The repeat test was continued until reaching at the stage where each patient had a positive response in initial test. RESULTS: 1) In initial head-up tilt test, most (91%) of a positive response occured during isoproterenol provocation. 2) In repeat head-up tilt test on atenolol, thirty-four patients(79%) had a negative response. But nine patients(21%) still had a positive response. 3) Nonresponsive group showed younger age and shorter time period to a positive response in initial head-up tilt test than responsive group. CONCLUSION: It may be useful to assess the effectiveness of beta-blocker by repeat head-up tilt before deciding long term treatment, especially younger age group.
Adult* ; Atenolol ; Humans ; Isoproterenol ; Syncope* ; Syncope, Vasovagal*

BACKGROUND AND OBJECTIVES: ovastatin, a HMG-CoA reductase inhibitor, is known to show antiproliferative effects on VSMC after vessel injury, but a large amount of the drug is needed orally for this purpose. This study investigated the effects of lovastatin given locally to injured carotid arteries of rats on reducing neointimal hyperplasia. MATERIALS AND METHOD: Lovastatin was given perivascularly to balloon-injured carotid arteries of 21 rats in 1 microM to the low-dose group, and 30 microM to the high-dose group. The control group was treated with pluronic gel only. Two weeks later, the lumen area, neointimal areas and the number of actively proliferating cells were obtained and compared. RESULTS: eointimal area was 0.113+/-0.032 mm2, 0.065+/-0.017 mm2, 0.072+/-0.017 mm2 in the control, low-dose and high-dose groups respectively. The area was significantly smaller in the treatment groups (p<0.05), but no significant difference was observed between the treatment groups. The number of actively proliferating cells per mm2 of neointimal area were 714.5+/-227.4, 688.4+/-333.7, and 1526.3+/-744.0 in the groups respectively, and the number was significantly high in the high-dose group (p<0.05). CONCLUSION: Local administration of lovastatin is effective in reducing neointimal hyperplasia after vascular injury, but extremely high doses are not needed locally for this purpose.
Animals ; Carotid Arteries* ; Carotid Artery Injuries* ; Hyperplasia* ; Lovastatin* ; Oxidoreductases ; Rats* ; Vascular System Injuries

BACKGROUND AND OBJECTIVES: Heart rate variability(HRV) reflects the autonomic integration of heart. There were many reports that HRV in patients with myocardial infarction or heart failure is an independent prognostic factor to predict fatal arrhythmia and sudden cardiac death. But, the role of HRV is still controversial in stable angina patients without history of myocardial infarction. In this study, we tried to compare HRV indices between stable angina patients and normal subjects. MATERIALS AND METHODS: Twenty-one stable anginal patients without history of myocardial infarction (mean age : 57 +/- 2 years) and twenty-one relatively healthy persons without history of coronary heart disease (mean age : 53 +/- 2 years) were included in the study and underwent 24-hour ambulatory ECG monitoring. In patients group, all underwent coronary angiography after 24-hour ambulatory ECG monitoring. HRV was analyzed over the whole 24 hours, using time and frequency domain parameters, according to time phases and coronary angiographic severity. RESULTS: There were no significant differences in age, sex and cardiovascular risk factors, except hypertension (p=.001) between two groups. HRV indices such as rMSSD, pNN50, LF, HF, LFnorm and HFnorm were significantly decreased (p<0.05) in patients group. But the angiographic severity of coronary arteries did not show any significant effect on the HRV indices in patients group. CONCLUSIONS: We observed significantly reduced HRV indices in patients with stable angina without history of myocardial infarction.
Angina, Stable* ; Arrhythmias, Cardiac ; Coronary Angiography ; Coronary Disease ; Coronary Vessels ; Death, Sudden, Cardiac ; Electrocardiography ; Heart Failure ; Heart Rate* ; Heart* ; Humans ; Hypertension ; Myocardial Infarction* ; Risk Factors

BACKGROUND AND OBJECTIVES: Pulmonary embolism (PE) is a disease with high mortality if left untreated. But, confirmative diagnosis is difficult because many diagnostic modalities are nonspecific. Pulmonary angiography, which is considered as the gold standard diagnostic tool, is invasive, costly, time-consuming, and not always available in small centers. Echocardiography is a non-invasive and available in the emergency room without significant time delay. We investigated the role of echocardiography as a screening test in patients with suspected PE. MATERIALS AND METHODS: (A) Retrospective study: We analyzed the recorded videotapes of transthoracic echocardiography in fifty patients with confirmed PE from Jan 1995 to Aug 1999. From the frequent echocardiographic findings of those patients, positive criteria were defined as followed ( 2 among 1-5 or only 6). (1) RV or pulmonary artery dilatation (RVEDA/LVEDA 0.6) (2) RV hypokinesis (3) paradoxical septal wall motion (4) pulmonary hypertension (5) TR (moderate degree or more) (6) Visible thrombus. Although the degree of TR was less than moderate, if the degree of pulmonary hypertension was more than moderate, we considered as PE. (B) Prospective study: From Nov 1999 to June 2000, patients with suspected pulmonary embolism underwent a transthoracic echocardiography and perfusion-ventilation lung scan or chest CT. We assessed echocardiographic findings, sensitivity and specificity of the previously defined echocardiographic positive criteria for PE. RESULTS: (A) Retrospective study: The sensitivity of echocardiography for PE was 74%. (B) Prospective study: The number of enrolled patients was thirty-four. In twenty patients the diagnosis was PE. The sensitivity of echocardiography was 75% but the specificity was 14%. CONCLUSION: Echocardiography may be used as a good screening test in patients who are clinically suspicious of pulmonary embolism.
Angiography ; Diagnosis ; Dilatation ; Echocardiography* ; Emergency Service, Hospital ; Humans ; Hypertension, Pulmonary ; Lung ; Mass Screening* ; Mortality ; Prospective Studies ; Pulmonary Artery ; Pulmonary Embolism* ; Retrospective Studies ; Sensitivity and Specificity ; Thrombosis ; Tomography, X-Ray Computed ; Videotape Recording

BACKGROUND AND OBJECTIVES: Pulmonary embolism (PE) is a disease with high mortality if left untreated. But, confirmative diagnosis is difficult because many diagnostic modalities are nonspecific. Pulmonary angiography, which is considered as the gold standard diagnostic tool, is invasive, costly, time-consuming, and not always available in small centers. Echocardiography is a non-invasive and available in the emergency room without significant time delay. We investigated the role of echocardiography as a screening test in patients with suspected PE. MATERIALS AND METHODS: (A) Retrospective study: We analyzed the recorded videotapes of transthoracic echocardiography in fifty patients with confirmed PE from Jan 1995 to Aug 1999. From the frequent echocardiographic findings of those patients, positive criteria were defined as followed ( 2 among 1-5 or only 6). (1) RV or pulmonary artery dilatation (RVEDA/LVEDA 0.6) (2) RV hypokinesis (3) paradoxical septal wall motion (4) pulmonary hypertension (5) TR (moderate degree or more) (6) Visible thrombus. Although the degree of TR was less than moderate, if the degree of pulmonary hypertension was more than moderate, we considered as PE. (B) Prospective study: From Nov 1999 to June 2000, patients with suspected pulmonary embolism underwent a transthoracic echocardiography and perfusion-ventilation lung scan or chest CT. We assessed echocardiographic findings, sensitivity and specificity of the previously defined echocardiographic positive criteria for PE. RESULTS: (A) Retrospective study: The sensitivity of echocardiography for PE was 74%. (B) Prospective study: The number of enrolled patients was thirty-four. In twenty patients the diagnosis was PE. The sensitivity of echocardiography was 75% but the specificity was 14%. CONCLUSION: Echocardiography may be used as a good screening test in patients who are clinically suspicious of pulmonary embolism.
Angiography ; Diagnosis ; Dilatation ; Echocardiography* ; Emergency Service, Hospital ; Humans ; Hypertension, Pulmonary ; Lung ; Mass Screening* ; Mortality ; Prospective Studies ; Pulmonary Artery ; Pulmonary Embolism* ; Retrospective Studies ; Sensitivity and Specificity ; Thrombosis ; Tomography, X-Ray Computed ; Videotape Recording