No abstract available.
Aorta, Thoracic*

PURPOSE: We conducted this study to evaluate the efficacy of Doppler study by examining obstruction at the site of anastomosis in patients with total anomalous pulmonary venous return(TAPVR). METHODS: Retrograde analysis of the postoperative echocardiography results was done in 14 patients with simple TAPVR, who were operated at Dong-A University Hospital from January 1993 to July 1998. The peak systolic velocities, peak diastolic velocities and flow patterns of the 14 patients were compared with those of 9 control cases. Among the 14 patients, 2 cases showed evidence of obstruction at the anastomosis site. RESULTS: Pulmonary venous flow patterns of normal infants were biphasic, varying with the cardiac cycle. The peak velocities during systole and diastole were 40 to 60cm/sec(mean 51+/-9cm/sec) and 45 to 78cm/sec(mean 59+/-9cm/sec), respectively. The flow patterns of patients without postoperative stenosis were also biphasic. The peak velocities during systole and diastole was 38 to 115cm/sec(mean 71+/-27cm/sec) and 55 to 140cm/sec(mean 111+/-28cm/sec), respectively. The diastole peak velocity was significantly higher than normal(P=0.0002). The flow patterns of patients with postoperative stenosis was continuous, non-phasic or increased peak velocity even though it was phasic. CONCLUSION: Postoperative Doppler echocardiographic evaluation of pulmonary venous return in patients with TAPVR is useful in examining obstruction at the site of anastomosis. But a study on the Doppler echocardiographic normal range of postoperative patients will be needed.
Constriction, Pathologic ; Diastole ; Echocardiography* ; Echocardiography, Doppler ; Humans ; Infant ; Reference Values ; Scimitar Syndrome* ; Systole

PURPOSE: We conducted this study to evaluate the efficacy of Doppler study by examining obstruction at the site of anastomosis in patients with total anomalous pulmonary venous return(TAPVR). METHODS: Retrograde analysis of the postoperative echocardiography results was done in 14 patients with simple TAPVR, who were operated at Dong-A University Hospital from January 1993 to July 1998. The peak systolic velocities, peak diastolic velocities and flow patterns of the 14 patients were compared with those of 9 control cases. Among the 14 patients, 2 cases showed evidence of obstruction at the anastomosis site. RESULTS: Pulmonary venous flow patterns of normal infants were biphasic, varying with the cardiac cycle. The peak velocities during systole and diastole were 40 to 60cm/sec(mean 51+/-9cm/sec) and 45 to 78cm/sec(mean 59+/-9cm/sec), respectively. The flow patterns of patients without postoperative stenosis were also biphasic. The peak velocities during systole and diastole was 38 to 115cm/sec(mean 71+/-27cm/sec) and 55 to 140cm/sec(mean 111+/-28cm/sec), respectively. The diastole peak velocity was significantly higher than normal(P=0.0002). The flow patterns of patients with postoperative stenosis was continuous, non-phasic or increased peak velocity even though it was phasic. CONCLUSION: Postoperative Doppler echocardiographic evaluation of pulmonary venous return in patients with TAPVR is useful in examining obstruction at the site of anastomosis. But a study on the Doppler echocardiographic normal range of postoperative patients will be needed.
Constriction, Pathologic ; Diastole ; Echocardiography* ; Echocardiography, Doppler ; Humans ; Infant ; Reference Values ; Scimitar Syndrome* ; Systole

OBJECTIVES: Hypertension provokes left ventricular diastolic dysfunction due to decreased elasticity of the ventricular myocardium at first. It has been proposed that the Doppler echocardiography might provide information concerning diastole because of its ability to measure the blood flow velocities across the mitral valve noninvasively. But Doppler mitral velocity may be "normalized" in hypertensive patients in different conditions. The purpose of this study is to evaluate diastolic function in hypertensive hearts using Doppler echocardiography of the pulmonary venous flow in conjunction with mitral flow velocity pattern. METHODS: We measured the mitral flow velocity curves and the pulmonary flow velocity curves in fifty hypertensive patients(mean age : 56.3+/-10.0, man : 19, woman : 31) nad forty healthy adults(mean age : 51.6+/-12.5, man : 14, woman : 26) from March 1995 to December 1995 by using the SONO 1000 of Hewlett Packerd. RESULTS: 1) The mitral flow velocity pattern in 50 hypertensive patients was characterized by the decrease in the peak early diastolic filling velocity(E : 0.59+/-0.12m/sec) and the ratio of E to peak filling velocity(A : 1.00+/-0.46m/sec). Isovolumetric relaxation time and deceleration time were 127.2+/-33.3msec, 258.9+/-40.9msec respectively. They were longer than normotensive patients(P < 0.05). 2) The pulmonary venous flow velocity pattern in hypertensive patients was characterized by the decreased peak diastolic forward velocity(D : 33.7+/-9.8cm/sec) and the ratio of peak systolic forward velocity(S) to D(S/D : 1.60+/-0.5)(P < 0.05). 3) There was no relation between the flow velocity integral parameters and the peak flow velocity parameters of pulmonary venous flow pattern in hypertensive patients. 4) The dofference in the pulmonary venous duration and the mitral A wave duration at atrial contraction (DA-DR) was 20.9+/-29.4 msec in hypertensive patients. DA-DR in normatensive patients was 24.3+/-32.9msec. DA-DR was not significant in hypertensive patients compared with that of the healthy subjects (P < 0.05) CONCLUSION: Analysis of pulmonary venous flow velocity pattern in conjunction with mitral flow velocity pattern in hypertensive patients provides more accurate assessment of left ventricular diastolic function.
Blood Flow Velocity ; Deceleration ; Diastole ; Echocardiography, Doppler ; Elasticity ; Female ; Heart* ; Humans ; Hypertension ; Mitral Valve ; Myocardium ; NAD ; Relaxation

The amino acids formed by degradation of proteins ingested produce ammonia. The ammonia which is broken down and excreted as urea through a process known as the Klebs-Hensleit cycle or the urea cycle. 1) The urea cycle consists of five enzymes necessary for the synthesis of carbamyl phosphate, citrulline, argininosuccinate, arginine, and urea: carbamyl phosphate synthetase (CPS), ornithine transcarbamylase (OTC), argininosuccinate synthetase (AS), argininosuccinate lyase (AL), and arginase (ARG). 2) Congenital deficiencies of the enzymes involved in the urea cycle are diseases that are almost fatal without treatment, showing symptoms like vomiting, lethargy, dyspnea, and coma due to hyperammonemia coming from the accumulation of ammonia and metabolic precursors resulting from the deficiency of one of these enzymes. 3) Among these, the disease manifested by the congenital deficiency of argininosuccinate synthetase (AS) which is associated with the formation of argininosuccinate in citrulline is called argininosuccinate synthetase deficiency or citrullinemia. There have been two reports on this so far in Korea; one in July 1987 by Kim et al. 4) and the other by Park et al. 5) in 1995. We are to report a case of successful treatment of a child with citrullinemia who was transferred to our hospital due to dyspnea, lethargy, feeding difficulties, convulsions and cyanosis together with some document studies related to this case.
Amino Acids ; Ammonia ; Arginase ; Arginine ; Argininosuccinate Lyase ; Argininosuccinate Synthase ; Carbamyl Phosphate ; Child* ; Citrulline ; Citrullinemia* ; Coma ; Cyanosis ; Dyspnea ; Humans ; Hyperammonemia ; Korea ; Lethargy ; Ligases ; Ornithine Carbamoyltransferase ; Seizures ; Urea ; Urea Cycle Disorders, Inborn ; Vomiting

Purpose: The pathogenesis of lower urinary tract symptoms (LUTS) without benign prostatic hyperplasia (BPH) in men is unclear. In this study, patients with LUTS without BPH were analyzed with a urodynamic study to search for effective treatments. MATERIALS AND METHODS: Ninety nine men with LUTS without BPH were assessed by their medical history, symptom score, uroflowmetry, filling cystometry and a pressure- flow study. The patients were divided into irritating and obstructive symptom groups according to their chief complaints. The urodynamic parameters between the two groups were compared. RESULTS: On urodynamics, 33 (33.3%) patients showed demonstrable evidence of detrusor instability (DI) of whom 10 had a concomitant bladder outlet obstruction (BOO), while 8 had concomitant detrusor underactivity (DU). BOO and DU was identified in 21 (21.2%) and 30 (30.3%) patients, respectively. Of the 61 patients presented with irritating symptoms, DI, BOO and an impaired contractility (IC) was found in 26.3, 13.1, and 13.1% of patients, respectively. Of the 38 patients with obstructive symptoms, DI, BOO and IC was found in 7.1, 8.1, and 17.2%, respectively. There was a significant positive correlation between the irritating symptoms and the presence of DI. CONCLUSIONS: Lower urinary tract symptoms in men are common and often misdiagnosed. This study demonstrated that 84 (84.8%) patients with lower urinary tract symptoms without a benign prostatic hyperplasia had urodynamic abnormalities such as DI, BOO and IC. A urodynamic study may to be useful in establishing a correct diagnosis and launching the appropriate therapy.
Diagnosis ; Humans ; Lower Urinary Tract Symptoms* ; Male ; Multiple Endocrine Neoplasia Type 1 ; Prostatic Hyperplasia* ; Urinary Bladder Neck Obstruction ; Urodynamics*

BACKGROUND: The intramural coronary artery has been known as a risk factor for early death after an arterial switch operation (ASO). We reviewed the morphological characteristics and evaluated the early and mid-term results of ASO for patients with an intramural coronary artery. MATERIALS AND METHODS: From March 1994 to September 15th 2010, 158 patients underwent ASO at Dong-A and Pusan National University Hospitals for repair of transposition of the great arteries and double outlet right ventricle. Among these patients, 14 patients (8.9%) had an intramural coronary artery. Mean age at operation was 13.4+/-10.2 days (4 to 39 days) and mean body weight was 3.48+/-0.33 kg (2.88 to 3.88 kg). All patients except one were male. Eight patients had TGA/IVS and 4 patients had an aortic arch anomaly. Two patients (14.3%) had side-by-side great artery relation, of whom one had an intramural right coronary artery and the other had an intramural left anterior descending coronary artery. Twelve patients had anterior-posterior relation, all of whom had an intramural left coronary artery (LCA). The aortocoronary flap technique was used in coronary transfer in 8 patients, of whom one patient required a switch to the individual coronary button technique 2 days after operation because of myocardial ischemia. An individual coronary button implantation technique was adopted in 6, of whom 2 patients required left subclavian artery free graft to LCA during the same operation due to LCA injury during coronary button mobilization and LCA torsion. RESULTS: There was 1 operative death (7.1%), which occurred in the first patient in our series. This patient underwent an aortocoronary flap procedure for coronary transfer combining aortic arch repair. Overall operative mortality for 144 patients without an intramural coronary artery was 13.2% (19/144). There was no statistical difference in operative mortality between the patients with and without an intramural coronary artery (p>0.1). There was no late death. The mean follow-up duration was 52.1+/-43.0 months (0.5 to 132 months). One patient who had a subclavian artery free graft required LCA stenting 6.5 years after surgery for LCA anastomotic site stenosis. No other surviving patient needed any intervention for coronary problems. All patients had normal ventricular function at latest echocardiography and were in NYHA class 1. CONCLUSION: The arterial switch operation in Transposition of Great Arteries or Double Outlet Right Ventricle patients with intramural coronary can be performed with low mortality; however, there is a high incidence of intraoperative or postoperative coronary problems, which can be managed with conversion to the individual coronary button technique and a bypass procedure using a left subclavian free graft. Both aortocoronary flap and individual coronary button implantation techniques for coronary transfer have excellent mid-term results.
Aorta, Thoracic ; Arteries ; Body Weight ; Constriction, Pathologic ; Coronary Vessels ; Double Outlet Right Ventricle ; Echocardiography ; Follow-Up Studies ; Hospitals, University ; Humans ; Incidence ; Male ; Myocardial Ischemia ; Risk Factors ; Stents ; Subclavian Artery ; Transplants ; Transposition of Great Vessels ; Ventricular Function

BACKGROUND: Lung injury that follows bypass has been well described. It is manifested as reduced oxygenation and lung compliance and, most importantly, increased pulmonary vascular resistance reactivity; this is a known cause of morbidity and mortality after repair of congenital heart disease. Injury to the pulmonary vascular endothelium, and its associated alterations of endothelin-1, is considered to be a major factor of bypass-induced lung injury. Removing endothelin-1 after bypass may attenuate this response. This study measured the concentration of serum and peritoneal effluent endothelin-1 after performing bypass to determine if endothelin-1 can be removed via peritoneal dialysis. MATERIAL AND METHOD: From March 2005 to March 2006, 18 patients were enrolled in this study. Peritoneal catheters were placed at the end of surgery. Serum samples were obtained before and after bypass, and peritoneal effluents were obtained after bypass. Endothelin-1 was measured by enzyme linked immunosorbent assay (ELISA). RESULT: In the patients with a severe increase of the pulmonary artery pressure or flow, the mean preoperative plasma endothelin-1 concentration was significantly higher than that in the patients who were without an increase of their pulmonary artery pressure or flow (4.2 vs 1.8 pg/mL, respectively, p<0.001). The mean concentration of plasma endothelin-1 increased from a preoperative value of 3.61+/-2.17 to 5.33+/-3.72 pg/ml immediately after bypass. After peritoneal dialysis, the mean plasma endothelin-1 concentration started to decrease. Its concentration at 18 hours after bypass was significantly lower than the value obtained immediately after bypass (p=0.036). CONCLUSION: Our data showed that the plasma endothelin-1 concentration became persistently decreased after starting peritoneal dialysis, and this suggests that peritoneal dialysis can remove the circulating plasma endothelin-1.
Cardiopulmonary Bypass* ; Catheters ; Endothelin-1* ; Endothelium, Vascular ; Enzyme-Linked Immunosorbent Assay ; Heart Defects, Congenital* ; Humans ; Lung Compliance ; Lung Injury ; Mortality ; Oxygen ; Peritoneal Dialysis* ; Plasma ; Pulmonary Artery ; Vascular Resistance

Cystathionine is well-known intermediate in the metabolism of methionine. It is cleaved to cysteine and homoserine by gamma-cystathionase. This enzyme utilize pyridoxal 5'-phosphate as coenzyme. gamma-cystathionase deficiency leads to persistent excretion of large amount of cystathionine in urine, as well as to accumulation of cystathionine in body tissues and fluids. It is inherited as an autosomal recessive trait and shows wide variety of clinical manifestations. No clinical abnormality seems to be specifically associated with gamma-cystathionase deficiency. The majority of patients responded to high dose administration of pyridoxine. We report the first case of cystathioninuric patient in Korea, 19 months of female with developmental delay. In brain MRI, there was generalized mild brain atrophy. There were several times of brief paroxysmal generalized polyspike and wave discharges in electroencephalography(EEG). In amino acid analysis of urine, there was elevated level of cystathionine. She was treated with high dose of pyridoxine. In follow up analysis of urinary amino acid, the cystathionine level was markedly decreased to normal range, and EEG was normalized. Her development shows improvement.
Atrophy ; Brain ; Cystathionine ; Cystathionine gamma-Lyase ; Cysteine ; Electroencephalography ; Female ; Follow-Up Studies ; Homoserine ; Humans ; Korea ; Magnetic Resonance Imaging ; Metabolism ; Methionine ; Pyridoxal ; Pyridoxine ; Reference Values

Spinal muscular atrophy(SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease of childhood after Duchenne muscular dystrophy. The genetic defect was found to be on the long arm of chromosome 5(5q11.2-q13.3) where many genes and microsatellite markers were missing. One of the most important genes is the Survival Motor Neuron(SMN) gene which is homozygously missing in 90% of SMA patients. Another important gene, the Neuronal Apoptosis Inhibitory Protein(NAIP) gene was found to be defective in 67% of SMA type I patients. Studies so far suggest SMA occurs when the genes on the long arm of chromosome 5 are mutated or deleted. Recently our hospital encountered 2 SMA patients of type I and II respectively. These patients both had homozygously defective SMN genes but intact NAIP genes. We are reporting these cases with bibliographic review and discussion. Korean SMA patients presumably have defects in SMN genes similar to those found in European patients, although the siginificance of NAIP genes remains to be established. SMN gene defects can be easily diagnosed using PCR and restriction enzymes, and this method could be applied towards convenient prenatal diagnosis and towards screening for family members at risk.
Apoptosis ; Arm ; Chromosomes, Human, Pair 5 ; Diagnosis* ; Humans ; Mass Screening ; Microsatellite Repeats ; Muscular Atrophy, Spinal* ; Muscular Dystrophy, Duchenne ; Neuromuscular Diseases ; Neurons ; Polymerase Chain Reaction ; Prenatal Diagnosis ; Wills