• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.15-21
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• 2021

Purpose: Urea cycle disorder (UCD) is an inherited inborn error of metabolism, acting on each step of urea cycle that cause various phenotypes. The purpose of the study was to investigate the long-term clinical consequences in different groups of UCD to characterize it. Methods: Twenty-two patients with UCD genetically confirmed were enrolled at Pusan National University Children's hospital and reviewed clinical features, biochemical and genetic features retrospectively. Results: UCD diagnosed in the present study included ornithine transcarbamylase deficiency (OTCD) (n=10, 45.5%), argininosuccinate synthase 1 deficiency (ASSD) (n=6, 27.3%), carbamoyl-phosphate synthetase 1 deficiency (CPS1D) (n=3, 13.6%), hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) (n=2, 9.1%), and arginase-1 deficiency (ARG1D) (n=1, 4.5%). The age at the diagnosis was 32.7±66.2 months old (range 0.1 to 228.0 months). Eight (36.4%) patients with UCD displayed short stature. Neurologic sequelae were observed in eleven (50%) patients with UCD. Molecular analysis identified 37 different mutation types (14 missense, 6 nonsense, 6 deletion, 6 splicing, 3 delins, 1 insertion, and 1 duplication) including 14 novel variants. Progressive growth impairment and poor neurological outcomes were associated with plasma isoleucine and leucine concentrations, respectively. Conclusion: Although combinations of treatments such as nutritional restriction of proteins and use of alternative pathways for discarding excessive nitrogen are extensively employed, the prognosis of UCD remains unsatisfactory. Prospective clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth or neurological outcomes and decrease metabolic crisis episodes in patients with UCD.

• Clinical and Experimental Pediatrics
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• v.49 no.12
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• pp.1329-1339
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• 2006

Purpose : Failure of hematopoietic stem cell transplantation(HSCT) may be encountered in practice because of either relapse of the malignancy or dysfunction of the graft. Second HSCT may be the only option for some patients whose initial HSCT failed. Methods : From May, 1991 to December, 2004, 115 HSCTs were performed at the Pediatric Blood & Marrow Transplantation Center, Chonnam National University. This study was a retrospective analysis of the medical records of 15 patients who received the second HSCT after initial graft. Results : Among eight patients with nonmalignant diseases, two patients underwent the second HSCT because of primary graft failure and five because of late graft rejection. The remaining Fanconi anemia patient was re-transplanted due to development of AML. Two patients died and one experienced primary graft failure, but is still alive. The Kaplan-Meier 5-year overall survival rate was 75 percent and the disease free survival rate was 62.5 percent in nonmalignant diseases. All malignant patients underwent second transplants because of relapses. Four died of relapse and one of treatment-related complications. The Kaplan-Meier 2-year overall and event free survival rate was 28.6 percent each in malignant diseases. Conclusion : Second HSCT for graft dysfunction of nonmalignant disease seems to be feasible and should be considered as a standard practice. The relapse of malignant diseases remains a big obstacle even after the second HSCT, although a small portion of patients might be salvaged. Further investigation of novel therapeutic strategies, as well an the understanding of the biology should be explored.

• Journal of Chest Surgery
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• v.40 no.4 s.273
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• pp.280-287
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• 2007

Background: We retrospectively evaluated the clinical results of surgically managing patients with Ebstein's anomaly. Material and Method: Between Feb. f 984 and June 2006, 50 patients who underwent surgical treatment for Ebstein's anomaly at Yonsei Cardiovascular Center were retrospectively reviewed. The mean age of the patients was 26.9 years and 19 patients were male, Associated anomalies included atrial septal defect (33), patent ductus arteriosus (2), ventricular septal defect (1), and pulmonary stenosis (4), and 90%, (45/50) of the patients had more than a moderate degree of tricuspid regurgitation. Carpentier type A was present in 6 patients, type B in 26, type C in 14 and type D in 4. Ten patients were associated with WPW syndrome. Conservative surgery was possible in 31 patients (tricuspid annuloplasty, plication of the atrialized RV), Fontan's operation was peformed in 4 patients, tricuspid valve replacement was done in 12 and palliative surgery was done in 2 patients. Thirteen patients were associated with hi-directional cavopulmonary shunt (BCPS: one and a half ventricular repairs): 10 patients with WPW syndrome and 4 patients with atrial fibrillation underwent concomitant ablation. Result: The postoperative median NYHA functional class $(3{\rightarrow}1)$ and the mean cardio-thoracic ratio $(0.65{\rightarrow}0.59)$ were decreased significantly (p<0.001, p=0.014). The mean oxygen saturation $(86.6{\rightarrow}94.1%)$, and median TR grade $(4{\rightarrow}1)$ were also significantly improved (p=0.004, p<0.001). For comparison of BCPS and conservative surgery, the preoperative right ventricular pressure (33.0 vs. 41.3 mmHg), the ICU stay (2.80 vs. 1.89 days), the hospital say (10.6 vs. 16.8 days), and the left ventricular ejection fraction (64.3 vs. 72.8%) were statistically different. Postoperative mortality occurred in 3 patients (6%) due to biventricular failure in 2 patients and sepsis in the other patient. The mean follow up duration was 101.5 months, and one patient died of Fontan failure and 6 patients required reoperation (bioprosthetic degenerative change (2) and Fontan conversion (4)). The overall survival rate at 10 years was 90.2%, the freedom from reoperation rate and rate of cardiac related events were 78.9% and 49.2%, respectively. Conclusion: Surgical management of Ebstein's anomaly can be performed safely, and the associated BCPS may be helpful for high-risk patients. Adequate application of surgical management may increase the long-term survival with a reduced rate of reoperation.

• Journal of Chest Surgery
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• v.43 no.6
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• pp.576-587
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• 2010

Background: Effective decellularization and fixation process is critical, in order to use xenogenic valves clinically. In the present study, we decellularized bovine pericardium using sodium dodecyl sulfate (SDS) and N-lauroyl sarcosinate, treated with $\alpha$-galactosidase, and then fixed in various manners, to find out the most effective tissue preservation & fixation procedure. Material and Method: Bovine pericardium was decellularized with SDS and N-lauroyl sarcosinate, and treated with $\alpha$-galactosidase. Both groups were fixed differently, by varying glutaraldehyde (GA) or EDC (1-ethyl-3-(3-dimethyl aminopropyl)-carbodiimide)/N-hydroxysuccinamide (NHS) treatment conditions. Thereafter, physical examination, tensile strength test, thermal stability test, cytotoxicity test, pronase test, pronase-ninhydrin test, purpald test, permeability test, compliance test, H&E staining, DNA quantification, and $\alpha$-galactose staining were carried out to each groups. Result: GA fixed groups showed better physical properties and thermal stability than EDC/NHS fixed groups, EDC/NHS-GA dual fixed groups showed better physical properties and thermal stability than EDC/NHS fixed groups, and showed better thermal stability than GA fixed groups. In pronase test and pronase-ninhydrin test, GA fixed groups and EDC/NHS-GA dual fixed groups showed stronger crosslinks than EDC/NHS groups. Permeability and compliance tended to increase in EDC/NHS-GA dual fixed groups, compared to GA fixed groups. But, EDC/NHS-GA dual fixed groups had stronger tensile strength and lower cytotoxicity than GA fixed groups. Conclusion: We have verified that EDC/NHS-GA dual fixation can make effective crosslinks and lower the toxicity of GA fixation. Henceforth, we will verify if EDC/NHS-GA dual fixation can lower calcifications & tissue failure in vivo experiment.

• Journal of Chest Surgery
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• v.43 no.6
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• pp.627-634
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• 2010

Background: The durability of the tissue valve is important in choice between a mechanical valve and a tissue valve in cardiac surgery. We studied the mid-term results of tissue valve in the aortic position. Material and Method: The subjects were 380 patients who had undergone aortic prosthesis replacement between May 1990 and March 2009. We retrospectively analyzed hospital and outpatient records: the mean age was $69{\pm}9$ years; the male to female ratio was 227 : 162; and the mean follow-up duration was $46.7{\pm}40.8$ months (range 0~196 months). Result: 389 surgical cases in total had been taken with 380 patients. Early death occurred in 15 patients (3.9%). Overall survival rate at 1, 5 and 10 years were 92.3%, 78.1% and 54.2% respectively. Freedom from reoperation at 1, 5 and 10 years were 98.4%, 97.1% and 91.7% respectively. Freedom from structural valvular deterioration at 1, 5 and 10 years were 96.1%, 92.3% and 88.0% respectively. In the multivariate analysis of preoperative risk factors, young age (p<0.001) was significant risk factor for reoperation. High peak velocity in the postoperative period (p=0.034) and young age (p=0.029) were significant risk factors for structural valvular deterioration. Old age (p=0.001), long bypass time (p=0.035), concomitant coronary artery bypass graft surgery (p=0.003) and preoperative low left ventricular ejection fraction (p=0.003) were significant factors for early mortality. Preoperative estimated glomerular filtration rate (< 60 mL/min) (p=0.025) and persistent left ventricular hypertrophy (p=0.032) were the risk factors for late mortality. Conclusion: This study showed that the freedom from reoperation and the freedom from structural valvular deterioration in aortic tissue valve replacement were acceptable. It will be necessary to conduct further studies with long-term follow-up and more patients.

• Journal of Chest Surgery
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• v.43 no.6
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• pp.635-641
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• 2010

Background: Radiofrequency endovenous ablation of incompetent saphenous vein has gaining popularity over the conventional ligation and stripping as a minimally invasive technique. The latest version of radiofrequency endovenous catheter, $VNUS^{\circledR}Colosure$ fast VNUS medical Technologies, San Jose, CA, adopted a segmental ablation system, instead of continous pullback, is designed to reduce treatment time in comparison with the previous model $VNUS^{\circledR}Colosure$ plus VNUS medical Technologies, San Jose, CA. The purpose of this study is to compare the difference between two endovenous radiofrequency ablation systems in terms of treatment efficacy and complication rates. We analyze the initial efficacy and complication rates of $VNUS^{\circledR}Colosure$ fast with $VNUS^{\circledR}Colosure$ plus. Material and Method: Between June 2006 and August 2009, $VNUS^{\circledR}Colosure$ plus was performed to treat varicose vein on 59 limbs in 41. patients and $VNUS^{\circledR}Colosure$ fast was performed on 76 limbs in 67 patients. We retrospectively compared in both group with sex, mean treatment time, mean treatment diameter, conjugated treatment, and complications after the procedure. Result: All patient were symptomatic and diagnosed as varicose vein and underwent level 2 clinical classification with color duplex scan. The mean treatment time for the great saphenous vein was significantly less with $VNUS^{\circledR}Colosure$ fast ($17.0{\pm}6.5min$) than $VNUS^{\circledR}Colosure$ plus ($62.7{\pm}9.8min$). There was no significant difference in 1 yr closure rate between groups (p=0.32). Minor complications such as skin burn, thrombophlebitis, ecchymosis, hematoma, cellulitis, tenderness, and there were not different between the groups. Conclusion: Both $VNUS^{\circledR}Colosure$ fast and $VNUS^{\circledR}Colosure$ plus are effective methods of endovenous saphenous ablation. $VNUS^{\circledR}Colosure$ fast is superior to the previous model with less treatment time preserving compatible efficacy and complications. The efficacy of $VNUS^{\circledR}Colosure$ fast for long term closure rate remains to be established.

• Tuberculosis and Respiratory Diseases
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• v.43 no.4
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• pp.579-589
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• 1996

Background : Activation of neutrophil is critical for the clearance of microorganisms and toxic host mediators during sepsis. Unfortunately the activated neutrophil and its toxic byproducts can produce tissue injury and organ dysfunction. The leucocyte CD11/18 adhesion complex regulates neutrophil-endothelial cell adhesion, the first step in neutrophil migration to sites of injection and inflammation. To investigate the potential of neutrophil inhibition as a treatment strategy for sepsis, we evaluated the effects of monoclonal antibody against CD11b (MAb 1B6) in rats intrabronchial challenged with Escherichia coli. Methods : Animals were randomly assigned to receive monoclonal antibody against CD11b (1 mg/kg, sc) and bovine serum albumin(BSA, 1 mg/kg, sc) 6 hr before, at 0 and 6 hr after intrabronchial challenge of $20x10^9$ CFU/kg E. coli 0111. Animals were randomized to treat either 24, 60 or 90% oxygen after bacterial challenge and begining 4 hr after inoculation, all animals were received 100 mg/kg ceftriaxone qd for 3 days. Peripheral and alveolar neutrophil(by bronchoalveolar lavage) counts and lung injury parameters such as alveolar-arte rial $PO_2$ difference, wet to dry lung weight ratio and protein concentration of alveolar fluid were measured in survived rats at 12 hr and 96 hr. Results : Monoclonal antibody against CD11b decreased circulating and alveolar neutrophil especially more in 12 hr than in 96 hr The lung injury parameters of antibody-treated animals were not different from those of BSA-treated animals. but It was meaningless due to small number of survived animals. The early(6 hr) mortality rate was significantly increased in antibody-treated group(51%) compared to BSA-treated group(31%) (P=0.02) but late(from 12 hr to 72 hr) mortality rate was not different in antibody-treated group(44%) from BSA-treated group(36%) (P =0.089). Conclusion : Leucocyte CD11b/18 adhesion molecule is known to regulate neutrophil migration to the site of infection and inflammation. The monoclonal antibody against CD11b decreased alveolar neutrophil in rats with pulmonary sepsis and increased early mortality rate. Therefore, we can speculate that monoclonal antibody against CD11b blocks of alveolar recruitment of neutrophils, impairs host defense mechanism and increases early mortality rate of pulmonary sepsis in rat.

• Childhood Kidney Diseases
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• v.3 no.2
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• pp.196-202
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• 1999

Purpose : When the mature kidney fails to reach its norml location in the renal fossa, the condition is known as ectopic kidney. Presenting symtoms can be various and it generally depend on the associated anomaly. Beside urologic anomalies such as hydronephrosis and vesicoureteral reflux, various anomalous vascular net work, skeletal anomaly or genital anomaly can be observed in this condition. Methods : Sixteen children with ectopic kidney was studied retrospectively to analyse initial presentation, accompanied anomaly and prognosis. Results : 56% of the children were accompanied with other urologic anomalies such as true incontinence and vesicoureteral reflux that required surgical treatment. 31% of children were either diagnosed incidentally during evaluation of other non-urologic disease or during follow-up evaluation of abnormal antenatal renal sonogram. Conclusion : Ectopic kidney can be often misdiagnosed as tumorous condition or as a surgical condition depend on the abnormal location of the kidney. Careful evaluation using abdominal sonogram, DMSA, VCUG and abdominal CT scan should be performed in order to search for associated anomalous condition and for proper management.

• Journal of Chest Surgery
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• v.35 no.12
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• pp.862-870
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• 2002

The surgical results of the patients with single ventricle(SV) associated with total anomalous pulmonary venous connection(TAPVC) has been reported with high mortality and morbidity due to their morphologic and hemodynamic complexity. A retrospective review was undertaken to report the outcome of the first-stage palliative surgery in our institution and to determine the factors influencing early death. Material and Method: Between January 1987 and June 2002, 39 patients with SV and TAPVC underwent surgical intervention with or without TAPVC repair. Age at operation ranged from 1day to 10.7months (median age, 2.4month), and 29 patients were male. Preoperative diagnosis included 20 right-dominant SV, 15 SV with endocardial cushion defect, 3 left-dominant SV, and 1 tricuspid atresia. The pulmonary venous connection was supracardiac in 22, cardiac in 5, infracardiac in 11, and mixed in 1, Obstructed TAPVC was present in 11. First-stage palliative surgery was performed in 37. Repair of TAPVC, either alone or in association with other procedures, was performed during the initial operation in 31. Univariate and multivariate analyses were performed to analyze the risk factors influencing the operative death. Result: A mean follow-up period of survivors was 34.3 $\pm$ 43.0(0.53 ~ 146.2)months. Overall early operative mortality was 43.6%(17/39). The causes were low cardiac output in 8, failure of weaning from cardiopulmonary bypass in 3, sepsis in 2, pulmonary hypertensive crisis in 1, pulmonary edema in 1, pneumonia in 1, and postoperative arrhythmia in 1. Risk factors influencing early death in univariate analysis were body weight, surgical intervention in neonate, obstructive TAPVC, preoperative conditions including metabolic acidosis, and need for inotropic support, TAPVC repair in initial operation, operative time, and cardiopulmonary bypass(CPB) time. In multivariable analysis, body weight, age at initial operation, surgical intervention in neonate, preoperative conditions including metabolic acidosis, need for inotropic support and CPB time were the risk factors. Conclusion: In this study, we demonstrated that the patients with SV and TAPVC had high perioperative mortality. Preoperative poor condition, young age, the length of operative and CPB time, the presence of obstructive TAPVC had been proven to be the risk factors. This fact suggests that the avoidance of unnecessarily additional procedures may improve the surgical outcomes of the first-stage palliative surgery. However further observation and collection of the data is mandatory to determine the ideal surgical strategy.

• Journal of Chest Surgery
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• v.42 no.3
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• pp.317-323
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• 2009

Background: Although high efficiency of conversion into sinus rhythm has been demonstrated after performing the Cox-Maze procedure in patients with atrial fibrillation associated with mitral valve disease, the changes in the mechanical function and size of the left atrium have not been determined. The aim of the study was to evaluate the effect of the Maze procedure on the left atrial size and contractile transport function. Material and Method: From July 1997 to July 2008, 647 consecutive patients were operated on for chronic atrial fibrillation associated with mitral valve disease. Among these, 211 patients that (1) were able to be followed up for 2 years after surgery, (2) had sustained normal sinus rhythm, regardless of whether they were taking anti-arrhythmic medications and (3) did not have valvular regurgitation greater than grade III or they did not have moderate grade valvular stenosis were selected for evaluation. The left atrial size and contractile transport function were assessed by transthoracic echocardiography at the postoperative base line (1 year) and at regular follow-up periods (2 years, 3 years, 4 years and 6 year). Result: The left atrial dimension was increased and the contractile transport function was decreased during the follow-up period. The longer the follow-up period, the greater was the statistical significance of the left atrial size increase and contractile transport function decrease. Conclusion: In patients who sustain normal sinus rhythm conversion after a Maze III procedure with a mitral valve operation, there is a gradual increase of the left atrial dimensions and a decrease of contractile transport function during the follow-up period. Therefore, scrupulous follow-up is needed for these patients.