Journal of The Korean Society of Inherited Metabolic disease
/
v.14
no.2
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pp.135-141
/
2014
Objectives: Fabry disease (FD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide (Gb3) in tissues due to a deficiency in the enzyme ${\alpha}$-galactosidase A. Hypertrophic cardiomyopathy is one of the chronic complications of FD. We tried to evaluate the prevalence of Fabry disease in the Korean patients with left ventricular hypertrophy (LVH). Methods: A total of 257 patients with LVH were recruited and they were 172 males (mean 56 years, range 30-81 years) and 84 females (mean 66 years, range 45-85 years). Urinary Gb3 was used to screen FD by high performance liquid chromatography-tandem mass spectrometry. Confirmatory tests were done by alpha-galactosidaseA activity using fluorometric assay and by GLA mutation analysis using sequencing. Results: Four patients were screening positive by urinary Gb3 analysis (cutoff, 25 ug/mmol creatinine). But, one female patient was diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis (1/257 patients, 0.4%). She showed 54.3 ug/mmoL creatinine of Gb3 and 15.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alphagalactosidase A activity. And she had a heterozygous GLA mutation of c.796G>A (p.D266N). Her daughter was found to be a carrier for FD confirmed by GLA mutation analysis. Asymptomatic carrier showed 25.5ug/mmol creatinine of Gb3 and 42.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alpha-galactosidase A activity. Conclusions: The prevalence of FD in Koran patients with LVH was detected as 0.4%. Although the prevalence seems to be low, screening studies are of great importance for detecting hidden cases as well as for identifying other effected family members.
Background: The aim of this study is to define the cardioprotective effects (hemodynamic, cytochemical and ultrastructural of the newly developed Histidine-Tryptophan-Ketoglutarate (HTK) cardioplegia compared to DelNido cardioplegia. Material and Method: Seventy-nine isolated rat hearts were divided into three groups on the basis of techniques of cardioplegia infusion. Twenty-eight hearts (Group 1) were flushed with cold DelNido cardioplegia with every 40 minutes for 2 hours. Twenty-seven hearts (Group 2) were flushed with cold HTK cardioplegia for once during the 2 hours. Twenty-four hearts (Group 3) were flushed with cold HTK cardioplegia with every 40 minutes for 2 hours. Heart rate, left ventricular developed pressure (LVDP), changes of + dp/dt max, coronary flow, and rate-pressure product value were measured at pre-ischemic, post-reperfusion 15 minutes, 30 minutes, and 45 minutes for hemodynamic study. Aspartate aminotransferase (AST), lactate dehydrogenase (LD), creatine kinase (CK), CK-MB, troponin-I, myoglobin, and lactate were measured at pre-ischemic and post-reperfusion 45 minutes for cytochemical parameters. Mitochondrial scores were counted in 3 cases from each group for ultrastructural assessment. Result: In hemodynamic study, there were no significant differences among group 1, group 2, and group 3. However, the decrease values of heart rate in group 2 and 3 exhibited significantly lower values than in group 1. In cytochemical study, there were no significant differences among group 1, group 2, and group 3. However, the increase values of lactate in group 2 and 3 exhibited significantly lower values than in group 1. In ultrastructural assessment, the mean myocardial mitochondria scores in group 1, group 2, and group 3 were 2.14$\pm$0.10, 1.52$\pm$0.57, and 2.10$\pm$0.16. Conclusion: HTK solution provides adequate myocardial protection with some advantages over DelNido solution in isolated rat hearts.
Shim, Woo Sup;Lee, Jae Yeong;Song, Jin Yong;Kim, Soo Jin;Kim, Sung Hye;Jang, So Ick;Choi, Eun Yong
Clinical and Experimental Pediatrics
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v.53
no.3
/
pp.380-391
/
2010
Purpose : Respiratory syncytial virus (RSV) is one of the main pathogens causing lower respiratory infections (LRI) in young children, usually of limited severity. However, in congenital heart disease (CHD) patients, one of the high-risk groups for RSV infection, RSV can cause serious illnesses and fatal results. To elucidate the effects of RSV infection in CHD patients, we observed RSV infection cases among CHD patients and non-CHD patients. Methods : On admission of 343 LRI patients over 3 years, 77 cases of RSV infection were detected by the RSV antigen rapid test of nasopharyngeal secretion. We compared RSV infection cases among groups of CHD and non-CHD patients. Results : During the winter season, RSV caused 20-0% of LRI admissions in children. In patients with completely repaired simple left to right (L-R) shunt diseases such as ventricular septal defect, atrial septal defect, and patent ductus arteriosus, RSV infections required short admission days similar to non-CHD patients. In patients with repaired CHD other than simple L-R shunt CHD, for whom some significant hemodynamic problems remained, RSV infection required long admission days with severe clinical course. In children with unrepaired CHD, RSV infection mostly occurred in early infant age, with long admission days. RSV infections within a month after cardiac surgery also required long admission days and severe clinical course. Conclusion : To avoid the tragedic outcome of severe RSV infection in the CHD patients, efforts to find the subgroups of CHD patients at high risk to RSV infection are needed, and effective preventive treatment should be applied.
1. Sites of the cardioaccelerating action of nicotine, DMPP, McN-A-343, AHR-602, tyramine, angiotensin and neostigmine were investigated in spinal rabbits. 2. The cardioaccelerating action of the above substances was substantially weak in reserpine-pretreated rabbits. The accelerating action was scarcely observed after propranolol administration. 3. Tetrodotoxin and guanethidine did not affect the cardioacceleration due to nicotine, DMPP, tyramine and isoproterenol, but they markedly weakened that due to McN-A-343, AHR-602, angiotensin and neostigmine. 4. Chlorisondamine blocked the cardioacceleration by nicotine and DMPP; atropine that by McN-A-343 and AHR-602. 5. Appropriate doses of isoproterenol, nicotine, DMPP, McN-A-343, tyramine, angiotensin and neostigmine, when administered into the right auricle, produced almost the same degree of cadia acceleration as when they were given to the right ear vein. AHR-602 did not produce significant cardioacceleration through this route. 6. Nicotine, DMPP and neostigmine when injected into the right auricle produced marked cardioacceleration, whereas they produced little action when injected into the left ventricle. Isoproterenol and tyramine produced more marked effect by the intraauricular route than the intraventricular one. 7. McN-A-343, AHR-602 and angiotensin produced more marked cardioacceleration by the intraventricular administration than the intraauricular one. The intraventricular AHR-602 produced marked cardioacceleration. 8. It is inferred that the sites of cardioaccelerating action of nicotine, DMPP, and tyramine will be either the terminals of the adrenergic nerves or the extraneuronal stores of norepinephrine and that of McN-A-343, AHR-602, angiotensin and neostigmine will be the adrenergic neurons in the heart. The sites on which nicotine, DMPP, tyramine and neostigmine will act are chiefly distributed in the auricular tissues and those on which McN-A-343, AHR-602, and angiotensin act chiefly in the ventricular tissues.
Son Ho Sung;Fang Yong Hu;Hwang Znuke;Min Byoung Ju;Cho Jong Ho;Park Sung Min;Lee Sung Ho;Kim Kwang Taik;Sun Kyung
Journal of Chest Surgery
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v.38
no.2
s.247
/
pp.101-109
/
2005
Background: In sudden cardiac arrest, the effective maintenance of coronary artery blood flow is of paramount importance for myocardial preservation as well as cardiac recovery and patient survival. The purpose of this study was to directly compare the effects of pulsatile and non-pulsatile circulation to coronary artery flow and myocardial preservation in cardiac arrest condition. Material and Method: A cardiopulmonary bypass circuit was constructed in a ventricular fibrillation model using fourteen Yorkshire swine weighing $25\~35$ kg each. The animals were randomly assigned to group I (n=7, non-pulsatile centrifugal pump) or group II (n=7, pulsatile T-PLS pump). Extra-corporeal circulation was maintained for two hours at a pump flow of 2 L/min. The left anterior descending coronary artery flow was measured with an ultrasonic coronary artery flow measurement system at baseline (before bypass) and at every 20 minutes after bypass. Serologic parameters were collected simultaneously at baseline, 1 hour, and 2 hours after bypass in the coronary sinus venous blood. The Mann-Whitney U test of STATISTICA 6.0 was used to determine intergroup significances using a p value of < 0.05. Result: The resistance index of the coronary artery was lower in group II and the difference was significant at 40 min, 80 min, 100 min and 120 min (p < 0.05). The mean velocity of the coronary artery was higher in group II throughout the study, and the difference was significant from 20 min after starting the pump (p < 0.05). The coronary artery blood flow was higher in group II throughout the study, and the difference was significant from 40 min to 120 min (p < 0.05) except at 80 min. Serologic parameters showed no differences between the groups at 1 hour and 2 hours after bypass in the coronary sinus blood. Conclusion: In cardiac arrest condition, pulsatile extracorporeal circulation provides more blood flow, higher flow velocity and less resistance to coronary artery than non-pulsatile circulation.
Background: The number of elderly patients undergoing coronary artery bypass grafting (CABG) is increasing. Elderly patients are at increased risk for a variety of perioperative complications and mortality. We identified determinants of operative complications and mortality in elderly patients undergoing CABG. Material and Method: Between January 1995 and July 2003, 91 patients older than 75 years underwent isolated CABG at Asan Medical Center. There were 67 men and 24 women with mean age of $77.0\pm2.4$ years. Thirty clinical or hemodynamic variables hypothesized as predictors of operative mortality were evaluated. Result: CABG was performed under emergency conditions in 5 patients. The internal thoracic artery was used in 85 patients and 10 patients received both internal thoracic arteries. The mean number of distal anastomosis was 3.7 per patient. Operative mortality was $3.3\%$. Twenty-two patients had at least one major postoperative complication. Low cardiac output syndrome was the most common complication, followed by reoperation for bleeding, pulmonary dysfunction, perioperative myocardial infarction, stroke, acute renal failure, ventricular arrhythmia, upper gastrointestinal bleeding, infection, and delayed sternal closure. None were the predictors of mortality. Renal failure, peripheral vascular disease, emergency operation, recent myocardial infarction, congestive heart failure, New York Heart Association (HYHA) class III or IV, Canadian Cardiovascular Society (CCS) angina scale III or IV, and low left ventricle ejection fraction below $40\%$ were univariate predictors of overall complications. Actuarial probability of survival was $94.9\%,\;89.8\%,\;and\;83.5\%$ at postoperative 1, 3 and 5 years respectively. During the follow-up period $93.3\%$ of patients were in NYHA class I, or II and $91.1\%$ were free from angina. Conclusion: Although operative complication is increased, CABG can be performed with an acceptable operative mortality and excellent late results in patients older than 75 years.
Background: The aim of this study is to assess the clinical results of various procedures in congenital aortic stenosis. Material and Method: From August 1987 to June 2004, 53 patients of congenital aortic stenosis underwent procedures such as percutaneous balloon valvuloplasty, aortic valvuloplasty, Ross procedure, and aortic valve replacement. The mean age of initial procedures was $8.2{\pm}6.0$ years. Percutaneous balloon valvuloplasty was peformed in sixteen patients, aortic valvulopiasty in thirty two patients, Ross procedure in nineteen patients, and aortic valve replacement in fourteen patients. The mean follow duration was $80.6{\pm}60\;(0{\sim}207)$ months. Result: There was 15.1% (8/53) of early mortality and no late mortality. The six patients with critical aortic stenosis were died of left ventricular dysfunction in early series (before 1 year; 4 cases) and two patients died after the Ross procedure and aortic valve replacement respectively. After percutaneous balloon valvuloplasty, most patients needed reoperations (14/16). Thirteen patients needed reoperation, after aortic valvuloplasty. After Ross procedure, two patients needed reoperation due to aortic regurgitation caused by progressive aortic root dilatation. The actuarial survival rate after Ross procedure at 7 years was 90.5%. Conclusion: In young children before the age of one, percutaneous balloon valvuloplasty was considered as :he safe initial palliative procedure. But children over one year-old, aortic valvuloplasty were the effective procedure. Ross procedure can be preformed safely with good results.
Background: In the majority of cases, sternal instability and wound infection concomitantly present after a cardiac operation following conventional median sternotomy, and these complications have a major influence on the postoperative course. The aim of this study is to compare the results of the different sternal wiring techniques of sternal infection. Material and Method: Between April 2004 and December 2008, 157 adult patients underwent cardiac in group A, whereas 71 patients who had undergone modified Robicsek sternal wiring were included in group B. The incidences of sternal wound complications in the two groups were assessed. Result: The mean age of the group B patients was older than that of the group A patients ($61{\pm}10$ years vs $57{\pm}13$ years). The incidence of preoperative left ventricular dysfunction (ejection fraction <30%), chronic obstructive pulmonary disease, renal failure requiring dialysis and diabetes mellitus were significantly higher in Group B, whereas the other perioperative risk factors for infection were not significantly different between the two groups. Two patients in group A experienced superficial wound infection, whereas 4 patients in group B displayed superficial wound infection, but the difference was not statistically significant (p=0.255). Yet poststernotomy deep sternal wound infection appeared in 6 patients of group A, whereas none of the patients in group B displayed this malady. Conclusion: The modified Robicsek sternal wiring technique showed greater sternal stability even for the patient with a high risk for infection, and the technique caused a lower incidence of deep sternal wound infection.
Purpose: Abnormal myocardial perfusion may be caused by ventricular preexcitation, but its location, extent, severity and correlation with accessory pathway (AP) are not established. We evaluated perfusion patterns on myocardial perfusion SPECT and location of AP in patients with WPW (Wolff-Parkinson-White) syndrome. Materials and Methods: Adenosine Tc-99m MIBI or Tl-201 myocardial perfusion SPECT was performed in 11 patients with WPW syndrome. Perfusion defects (PD) were compared to AP location based on ECG with Fitzpatrick's algorithm or electrophysiologic study and radiofrequency catheter ablation. Results: Patients had atypical chest discomfort or no symptom. Risk of coronary artery disease (CAD) was below 0.1 in 11 patients using the nomogram to estimate the probability of CAD. Coronary angiography was performed in 4 patients (mid-LAD 50% in one, normal in others). In 4 patients, AP localization was done by electrophysiologic study and radiofrequency catheter ablation (RFCA). Small to large extent ($11.0{\pm}8.5%$, range:$3{\sim}35%$) and mild to moderate severity ($-71{\pm}42.7%$, range:$-2l7{\sim}-39%$) of reversible (n=9) or fixed (n=1) perfusion defects were noted. One patient with right free wall (right lateral) AP showed normal. PD locations were variable following the location of AP. One patient with left lateral wall AP was followed 6 weeks after RFCA and showed significantly decreased PD on SPECT with successful ablation. Conclusion: Myocardial perfusion defect showed variable extent, severity and location in patients with WPW syndrome. Abnormal perfusion defect showed in most of all patients, but it did not seem to be correlated specifically with location of accessory pathway and coronary artery disease. Therefore myocardial perfusion SPECT should be interpreted carefully in patients with WPW syndrome.
Kim, Jae-Sung;Lee, Dong-Soo;Hong, Suk-Keun;Lee, Young-Tak;Kim, Yu-Kyeong;Kim, Youn-Jung;Moon, Keon-Sik;Won, Tae-Kyoung;Hwang, Hweung-Kon
The Korean Journal of Nuclear Medicine
/
v.34
no.4
/
pp.276-284
/
2000
Purpose: We investigated the operative outcome after bypass surgery in patients selected using viability criteria on F-18 FDG PET. Materials and Methods: Rest-24hr delay redistribution imaging of Tl-201 SPECT and F-18 FDG PET were performed in 11 patients. Seven of these 11 patients (6 men, 1 woman) were evaluated to have viable myocardium by F-18 FDG PET. Changes in symptoms and left ventricular ejection fraction (LVEF) after operation were evaluated. Results: In seven of 11 patients, a significant amount of viable myocardium was found on F-18 FDG PET and Tl-201 SPECT. Severity of both chest pain and dyspnea improved markedly in all patients. Mean LVEF improved from 22% to 32%. Conclusion: F-18 FDG PET could be used to select the patients who will benefit from coronary artery bypass surgery.
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