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 AND OBJECTIVES: During coronary angioplasty, a distal embolization of the intracoronary thrombus is associated with an increased risk of myocardial infarction and mortality. Recently, distal protection devices have been tested for distal embolization with varying success. Here we report the experiences with one of the distal protection devices, Percusurge(r). SUBJECTS AND METHODS: From January 2001 to August 2001, 5 cases of a Percusurge(r) being used in patients with intracoronary thrombus were experienced during the angioplasty (male:4, female:1). Both the pre- and post-procedural clinical findings of the patients, the angiographic findings, the number of acute complications, the presence of biochemical marker such as CK-MB, and any in-hospital cardiac events were reviewed. RESULTS: Percusurge(r) was used in the right coronary artery (RCA) in 4 cases and in the saphenous vein graft in 1. The clinical diagnosis included stable angina (2 patients), non-Q wave myocardial infarction (1 patient), and Q-wave myocardial infarction (2 patients). The patients showed a TIMI 0 or 1 flow in 4 patients with a RCA lesion and TIMI 3 flow in 1 patient with a saphenous vein graft lesion. However, the TIMI 3 flow was recovered in all cases after the intervention. The CK-MB level did not show any significant changes between the pre- and post-procedure in 4 cases (11.2 +/- 3.2 U/L vs 10.2 +/- 2.1 U/L). However, one of the distal branchs was totally occluded by the distal embolization of the thrombus, and the CK-MB level increased from 2.1 U/L to 22.7 U/L. Otherwise, no procedure-related complications or major in-hospital cardiac events were observed. CONCLUSION: The use of the distal protection device, Percusurge(r), may reduce both the procedural and clinical complications during a coronary intervention in the thrombus-containing lesion. However, a large prospective study is needed to define the role of the distal protection device.
Angina, Stable ; Angioplasty ; Biomarkers ; Coronary Thrombosis ; Coronary Vessels ; Diagnosis ; Humans ; Mortality ; Myocardial Infarction ; Saphenous Vein ; Thrombosis* ; Transplants

BACKGROUND AND OBJECTIVES: This study was performed to investigate the antiproliferative effect of lovastatin on vascular smooth muscle cell, especially to determine whether lovastatin induces apoptosis in vascular smooth muscle cell and the products of mevalonate pathway can reverse the antiproliferative effect of lovastatin. METHODS AND MATERIALS: Lovastatin only and lovastatin with one of the products of mevalonate pathway such as isopentenyl adenine, farnesol, mevalonate, cholesterol were added respectively in cultured rat vascular smooth muscle cells stimulated with 10% fetal calf serum. DNA synthesis was measured by tritiated-thymidine incorporation. Cell number was determined by hemocytometric counting. Cells were Giemsa-stained to evaluate morphological changes of apoptosis. Extracted DNA from the cells treated with lovastatin was assessed by gel electrophoresis. RESULTS: 1)Lovastatin inhibited DNA synthesis and cell proliferation in a dose-dependent manner. 2)The inhibitory effects of lovastatin could be reversed almost completely by mevalonate, partially by farnesol. 3)Lovastatin-treated vascular smooth muscle cells showed typical morphological changes of apoptosis. 4)A distinct ladder of DNA bands was visualized by gel electrophoresis of the DNA from the cells treated with lovastatin. CONCLUSION: Mevalonate metabolism is essential for vascular smooth muscle cell proliferation. The antiproliferative effect of lovastatin may result from the induction of apoptosis in vascular smooth muscle cells.
Adenine ; Animals ; Apoptosis ; Cell Count ; Cell Proliferation ; Cholesterol ; DNA ; Electrophoresis ; Farnesol ; Lovastatin* ; Metabolism ; Mevalonic Acid ; Muscle, Smooth, Vascular* ; Rats

BACKGROUND AND OBJECTIVES: Coronary artery disease (CAD) is the leading cause of death in postmenopausal women, and exercise echocardiography was reported to be a useful noninvasive test for diagnosis of CAD and risk-stratification in the era of fundamental echocardiographic imaging. This study was performed to determine whether normal findings on exercise echocardiography using advanced imaging equipments such as harmonic imaging provide useful data on prognosis in postmenopausal women with chest pain. METHOD: The study population consisted of 102 patients with postmenopausal women who were proven to be normal on exercise echocardiography from August 1997 to January 1999. Patients were followed up for a mean duration of 3.5 years. These patients were classified into 3 groups on existence of risk factors; low-risk, moderate-risk, high-risk. End points during follow-up were all-cause mortality and cardiac events (cardiac death, nonfatal myocardial infarction and coronary revascularization). We studied the prognostic value of exercise echocardiography in 102 patients of postmenopausal women with chest pain (mean age 59+/-6 years). RESULT: Of these 102 patients, 1 patient (0.1%) among the high-risk group underwent coronary revascularization and 2 patients (1.9%) among low- and moderate-risk group died of non-cardiac reasons. No cardiac deaths or nonfatal myocardial infarction were reported. According to risk group classification, there was no difference in major adverse cardiac events between each risk groups. ST segment change on exercise electro-cardiography was observed in 7 patients (7%). CONCLUSION: Normal results on exercise echocardiography using harmonic imaging in postmenopausal women with chest pain is a good method of predicting long-term prognosis.
Cause of Death ; Chest Pain ; Classification ; Coronary Artery Disease ; Death ; Diagnosis ; Echocardiography* ; Female ; Follow-Up Studies ; Humans ; Mortality ; Myocardial Infarction ; Prognosis ; Risk Factors

BACKGROUND AND OBJECTIVES: Neurocardiogenic syncope is believed to be caused by a transient imbalance of autonomic nervous system. Actually, there were significant differences in heart rate variability (HRV) indices during head-up tilt test between patients with neurocardiogenic syncope and normal controls. But there was no definite evidence for it during daily activity. So, we tried to evaluate HRV during daily activity with 24-hour ambulatory electrocardiography monitoring. MATERIALS AND METHODS: 27 patients with neurocardiogenic syncope or presyncope (mean age 45+/-3) and 25 normal volunteers (mean age 47+/-2) comparable for age and sex underwent 24-hour ambulatory electrocardiography. Head-up tilt test was used to diagnose neurocardiogenic syncope or presyncope in patients group. HRV was analysed over the whole 24 hours, using time and frequency domain parameters. Student's t-test was applied. ResultsThere were no significant differences in HRV measures between two groups, over 24-hour period and day-time and night-time period. But the hourly HRV measures showed a transient decrease of LF, LFnorm and LF/HF ratio in patients group compared to normal control group. CONCLUSIONS: These results indicate that patients with neurocardiogenic syncope or presyncope suffer from temporarily decreased sympathetic tone with normal parasympathetic tone. So, transient additive change of autonomic nervous tone may cause syncope or presyncope in these patients. (Korean Circulation J 2000;30 (6):716-723)
Autonomic Nervous System ; Electrocardiography, Ambulatory ; Healthy Volunteers ; Heart Rate* ; Heart* ; Humans ; Syncope* ; Syncope, Vasovagal*

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*