• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.31-37
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• 2017

Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle that causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed-onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed-onset cases are predominantly adolescents or adults, and infantile delayed-onset cases are rare. Severe hyperammonemia in the neonatal period leads to serious brain damage, coma, and death if not treated promptly. Therefore, early diagnosis and acute treatment are crucial. Despite the improvement of treatments, including continuous hemodialysis, ammonia-lowering agents, and a low-protein diet, the overall outcome of severe forms of hyperammonemia often remains disappointing. As the liver is the only organ in which ammonia is converted into urea, liver transplantation has been considered as an elegant and radical alternative therapy to classical dietary and medical therapies. However, liver transplantation has many disadvantages, such as a considerable risk for technical complications and perioperative metabolic derangement, especially in neonates. Additionally, there is a lack of suitable donor organs in most countries. According to recent studies, liver cell transplantation is a therapeutic option and serves as a bridge to liver transplantation. Here, we report a Korean CPS1D patient with novel mutations in CPS1 who was treated by liver cell transplantation after being diagnosed in the neonatal period and showed a good neurodevelopmental outcome at the last follow-up at six months of age.

• Clinical and Experimental Pediatrics
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• v.46 no.2
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• pp.154-161
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• 2003

Purpose : The prognosis of patients with corrected transposition of the great arteries(C-TGA) is variably affected by associated intracardiac defects, systemic right ventricular function, tricuspid valve competence, and conduction disturbances. This study aims to evaluate the importance of those factors at mid-term follow-up. Methods : Medical records of 94 patients(males 58, females 36; mean age at last follow-up, $12{\pm}9$ years; mean follow-up duration, $9{\pm}6.4$ years) diagnosed between January 1980 and May 2002 at Seoul National University Children's Hospital were studied retrospectively. Results : Among 94 patients, operations were performed in 72 patients(classic operations in 55; double switch operations in 17). Among prognostic factors including associated intracardiac anomalies(at least moderately severe tricuspid insufficiency(TI), ventricular septal defect, pulmonary stenosis and pulmonary atresia), intracardiac operation and complete atrioventricular block, TI was the only significant factor for death(P=0.001), and in turn, Ebstein anomaly and high grade atrioventricular block predicted TI. 20-year survival without TI was 77%, but only 35% with TI(P=0.0002); excluding perioperative death, the 20-year survival rates with and without TI were 48% and 87% respectively(P=0.008). There was no statistical difference in 20-year survival rate or association with TI between classic and double switch operation. Conclusion : TI was the major prognostic factor for C-TGA and was associated with Ebstein anomaly and high grade atrioventricular block at mid-term follow-up. Long-term follow-up is required to evaluate other factors, including double switch operations and associated intracardiac defects more exactly.

• Journal of Gastric Cancer
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• v.9 no.2
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• pp.51-56
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• 2009

Purpose: Peritoneal recurrence has been reported to be the most common form of recurrence of gastric cancer. Peritoneal recurrence can generally be suggested by several types of image studies and also if there is evidence of ascites or Bloomer's rectal shelf. It can be confirmed by explorative laparotomy, but diagnostic laparoscopy is a good alternative method and laparoscopic surgery has also been widely used. We reviewed and analyzed the ability of diagnostic laparoscopy to detect peritoneal recurrence or carcinomatosis, and especially for gastric cancer. Materials and Methods: We performed a retrospective review the 45 gastric cancer patients who were operated via diagnostic laparoscopy between 2004. 2. and 2009. 3. We analyzed the perioperative clinical characteristics and the accuracy of the diagnostic methods. Results: The study groups included 14 patients who had confirmed gastric cancer, but they suspected to have carcinomatosis, and 31 patients who had previously underwent gastric resection, but they suspected to have recurrence. The mean operation time was $44.1\pm26.9$ minutes and the mean postoperative hospital stay was $2.7\pm2.8$ days. There was one case of operation-related complication and no postoperative mortality occurred. The sensitivities for detecting peritoneal recurrence or carcinomatosis were 92.1% for diagnostic laparoscopy, 29.7% for detecting ascites and rectal shelf on the physical examination, 86.5% for abdominal computed tomography, 69.2% for PET CT and 18.8% for CEA. Conclusion: Diagnostic laparoscopy does not require a long operation time or a long hospital stay, and it showed a low complication rate in our study. It has high sensitivity for detecting peritoneal recurrence of gastric cancer. It can be an alternative diagnostic confirmative method and it is useful for deciding on further treatment.

• The Journal of the Korean bone and joint tumor society
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• v.20 no.1
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• pp.7-13
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• 2014

Purpose: As well as patient survival, the restoration of postoperative function such as ambulation is important in limb salvage operations for treatment of malignant bone tumors involving the proximal femur. The authors analyzed clinical outcomes of limb salvage operations using tumor prostheses for metastatic or primary malignant bone tumors in the proximal femur. Materials and Methods: From February 2005 to January 2014, 20 cases (19 patients) with malignant bone tumor involving the proximal femur with pain or complicated pathologic fracture were treated with segmental resection and limb salvage operations with tumor prostheses. Mean age was 63.1 years (range 35-86). Fourteen patients were male and six ones were female. The mean follow-up period was 20 months (1-94 months). There were 15 cases of metastatic bone tumor, 4 cases of osteosarcoma, and 1 case of multiple myeloma. The primary tumors of the metastatic bone tumors included 4 lung cancers, 3 hepatocellular carcinomas, and 3 renal cell carcinomas. Other primary tumors were breast cancer, thyroid cancer, colon cancer, prostate cancer, and malignant spindle cell tumor, each in 1 case. Modular tumor prostheses were used in all cases; (Kotz's$^{(R)}$ Modular Tumor prosthesis (Howmedica, Rutherford, New Jersey) in 3 cases, MUTARS$^{(R)}$ proximal femur system (Implantcast, Munster, Germany) in 17 cases). Perioperative pain was assessed with Visual Analogue Scales (VAS). Postoperative functional outcome was assessed with Musculoskeletal Tumor Society (MSTS) grading system. Results: Out of 20 cases (19 patients), 11 cases (10 patients) survived at the last follow-up. Average postoperative survival of the 9 deceased patients was 10.1 months (1-38 months). VAS score improved from pre-operative average of 8.40 (5-10) to 1.35 (0-3) after operation. Average postoperative MSTS function score was 19.65 (65.50%, 7-28). The associated complications were 2 local recurrences, 3 hematomas, 3 infections, 2 scrotal swellings, and 1 dislocation. There was no case of periprosthetic fracture or loosening. Conclusion: Limb salvage operation with tumor prosthesis is an appropriate treatment for early pain reduction and functional restoration in malignant bone tumors in the proximal femur with pain an/or complicated pathologic fractures.

• Journal of Chest Surgery
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• v.38 no.10 s.255
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• pp.699-704
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• 2005

Background: Coronary artery fistula is rare congenital anomaly, which account for $0.27\~0.40\%$ of all congenital heart diseases. We report the clinical observations of 45 patients with coronary artery fistula. Material and Method: We reviewed all patients presented with or without symptoms of coronary artery fistula between 1987 and 2004. Age ranged from 1 to 83 years. Twenty-six patients were female. The patients were divided into 2 groups according to the presenting symptoms. Twelve patients were in group A (asymptomatic) and 33 patients in group B (symptomatic). The most common clinical presentation in group B was angina (18) followed by dyspnea (7), atypical chest pain (5), syncope (1), fatigue (1), and palpitation (1). Twenty-five patients were associated with other cardiac diseases, which were atrial septal defect (4), coronary artery occlusive disease (6), hypertension (12), and valvular heart disease (2). Result: Patients were followed-up for a mean period of $64.8\pm62.7$ months. There was no complication related to coronary artery fistula during the follow-up period in both group. There was no mortality related to coronary artery fistula. Conclusion: In symptomatic patients, early surgical treatment is recommended considering the low perioperative morbidity. In asymptomatic patients receiving medical treatment, close follow up may be necessary.

• Journal of Chest Surgery
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• v.36 no.3
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• pp.142-149
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• 2003

To know the feasibility of the coronary artery bypass graft (CABG) for multivessel coronary artery disease with purely bilateral internal thoracic arteries (ITAs), we analyzed the short-term clinical results and the coronary angiography of the patients. Material and Method: From March 2001 to June 2002, four hundred and five patients underwent CABG. Purely bilateral ITAs were used in 159 patients (39.3%). We analyzed these patients retrospectively The mean age of these patients was $61.2{\pm}8.5$ (range: 30 ~80) years and there were 123 male patients. The preoperative risk factors were as follows: diabetes in 54 patients (34.0%), history of acute myocardiac infarction within 4 weeks in 29 (18.2%), and emergency operation in 6 (3.8%). Off-pump CABG was carried out in 128 patients (80.5%). Associated procedures were mitral valvuloplasty (5), aortic valve replacement (3), Dor procedure (1), and so on. Result: The mean number of distal anastomoses was $3.1{\pm}0.9$ (range: 2~6), the mean duration of hospital stay was $8.4{\pm}4.5$ days. There was one (0.6%) operative death. Except for one early death, no other patients suffered from low cardiac output. The other postoperative complications were occurred as follows: reoperation due to bleeding in 3 patients, perioperative myocardiac infarction in 1, transient cardiac arrest in 2, transient cognitive dysfunction in 7, and transient ischemic attack in 1, and deep sternal wound infection in 1 patient. Recently, early postoperative angiography was performed in 19 patients who had triple vessel disease. The total number of distal anastomosis was 78 (mean $4.1{\pm}0.8$/patient). All distal anastomosis sites were patent, but competition flow was observed at the bypass sites where the native coronary artery stenosis was not significant. Conclusion: The CABG with purely bilateral ITAs for triple vessel disease was performed safely. The early patency rate was relatively good in small number of patients. However the long-term patency rate and the functional study to evaluate the sites where competition flow was observed should be followed.

• Journal of Chest Surgery
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• v.36 no.9
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• pp.659-665
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• 2003

The aim of this study was to evaluate the early and midterm results of off-pump total arterial revascularization using the skeletonized right gastroepiploic artery (RGEA) as a third arterial conduit. Material and Method: We prospectively analyzed 103 patients who underwent off-pump total arterial revascularization using bilateral internal thoracic arteries (ITAS) and RGEA. The RGEA was used as in situ graft in 88 patients, composite graft in 10 patients, and free graft in 5 patients. Postoperative coronary angiographies were performed before discharge in 100 patients, and at postoperative one year in 88 patients. Result: The RGEA showed a significantly higher free flow (130$\pm$95 ml/min) than that of right ITA(113$\pm$57 ml/min) or left ITA (107$\pm$55 ml/min), which was measured before anastomosis (p < 0.05). The total number of distal anastomoses was 3.8$\pm$0.7. The number of distal anastomoses per bilateral ITAs was 2.8$\pm$0.7 and the number of distal anastomosis per RGEA was 1.0. There were two morialities including one operative mortality. The late mortality was not related to cardiac events. Early postoperative morbidities were atrial fibrillation in 15 patients, bleeding reoperation in 4 patients, mediastinitis in 1 patients, perioperative myocardial infarction in 2 patient, and transient ARF in 3 patients. Postoperative coronary angiographies showed the early patency rate of 98.6％ (272/276) for ITAs and 97.0％ (97/100) for RGEA, respectively (p=ns), and the one-year patency rate of 95.9％ (234/244) for ITAs and 88.6％ (78/88) for RGEA, respectively (p=0.07). Flow competition between the RGEA and NCA (native coronary artery) was seen in 5 of the 100 patients (5.0％) immediate postoperatively and 7 of the 88 patients (8.0％) 1 year after surgery. Since July, 2000, we measured transit time flow intraoperatively and could reduce flow competition significantly Conclusion: The skeletonized RGEA demonstrated excellent early and midterm patency rates and could be used as a third arterial graft following the bilateral ITAs.

• Journal of Chest Surgery
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• v.37 no.9
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• pp.735-741
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• 2004

Blood cardioplegia is known as an established cardioplegic solution during open heart surgery. Recently, the Histidine-Tryptophan-Ketoglutarate (HTK) solution has been introduced as a cardioplegia in Korea. This study was designed to compare the myocardial protective effect between the cold blood cardioplegia (CBC) and HTK solution. Material and Method: Forty patients who underwent valve surgery or coronary artery bypass surgery were randomly divided into CBC group (n=20) and HTK group (n=20). The perioperative hemodynamic and clinical data were analyzed. The concentration of CK-MB, Troponin 1 and Lactate from coronary sinus and radial arterial blood were compared for the evaluation of the myocardial damage. The postoperative serial CK-MB levels were measured. Result: The characteristics of preoperative patients were similar in two groups. The hemodynamic parameters and postoperative clinical data were also similar between the two groups. There were no statistical significances between the CBC and HTK group in the difference of biochemical markers: Δ CK-MB (15.3$\pm$26.0 vs 19.3$\pm$14.3), ΔTro-1 (2.4$\pm$4.9 vs 2.0$\pm$2.20), ΔLac (1.6$\pm$1.0 vs 1.9$\pm$2.5). The serial CK-MB levels were not significantly different between the two groups. Conclusion: These results suggested that the myocardial protective effect of HTK solution was similar to cold blood cardioplegia during open heart surgery.

• 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.36 no.9
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• pp.638-645
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• 2003

The purposes of this study were to evaluate the effect of myocardial protection with our cold blood cardioplegic solution and to observe the relationship between ultrastructural study and other evaluation methods and its effectiveness. Material and Method: We evaluated the changes of myocardial ultrastructure using semi-quantitative scoring system, CK-MB fraction, SGOT and LDH1/LDH2, and EKG in 18 patients undergoing valvular heart surgery and coronary artery bypass grafting (CABG). Right atrial auricular biopsies were taken before the cardiopulmonary bypass (CPB) and shortly after the end of CPB. Myocardium-related serum enzymes ＆ EKG were checked for 3 days of postoperative period and their postoperative peak enzyme value and observed new Q wave ＆ ST segment elevation in EKG were choosen. Result: There were 8 males and 10 females, and their mean age was 55.6$\pm$13. Eight patients underwent valvular heart surgery and ten coronary artery bypass grafting, The mean CPB time was 119$\pm$29 minutes and the mean aortic cross-clamp (ACC) time was 75.4$\pm$24 minutes. Before the start of CPB, the mean mitochondrial score was 4.28$\pm$0.53 and after the end of CPB, it significantly increased to 2.35$\pm$0.79. There was no evidence of perioperative myocardial infarction in terms of myocardiumrelated serum enzyme value and Q wave and ST change in EKG. There was no significant relationship between pre-CPB and post-CPB mitochondrial score and the mean time of CPB and ACC, and the mean value of postoperative peak CK-MB, SGOT and LDH1/LDH2, but there was relatively positive correlation of CPB time with peak LDH1/LDH2. Conclusion: Despite the apparent satisfactory results in myocardium-related serum enzymes ＆ EKG, with this study using the cold blood cardioplegic solution, there were many changes in myocardial ultrastructures, and more studies are needed to obtain further information.