• Journal of Interdisciplinary Genomics
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• v.5 no.1
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• pp.1-4
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• 2023

Kleefstra syndrome is caused by chromosome 9q34.3 deletion or heterozygous mutations in the Euchromatin Histone Methyl Transferase 1 (EHMT1) gene. The prevalence is estimated 1:25,000 to 1:35,000. Intellectual disability, distinctive facial features, hypotonia in childhood can be accompanied. The spectrum of Kleefstra syndrome includes behavioral/psychiatric problems, hearing and visual impairments, seizures, congenital heart defects, genitourinary defects, and obesity. Therefore, it is necessary to understand the pathophysiology and various manifestation of Kleefstra syndrome and discussing with a multidisciplinary team will help diagnose and treat Kleefstra syndrome patients.

• Journal of Chest Surgery
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• v.23 no.1
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• pp.16-21
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• 1990

From November 1978 through June 1989, 33 patients aged 3 months to 27 years [mean 9.7 years] underwent repair of intracardiac defects associated with corrected transposition. Five patients had had previous palliative surgery. Operation were performed in 31 for ventricular septal defect, 22 for pulmonary outflow tract obstruction, 16 for atrial septal defect, and 5 for anatomical tricuspid valve regurgitation. Pulmonary outflow tract obstruction was relieved by pulmonary valvotomy in 9, Rastelli procedure in 5, modified Fontan procedure in 3, and by REV procedure in 5 patients recently. Early mortality was 21.2%[7/33] and no late mortality during follow up period. Two had residual pulmonary outflow tract obstruction and one residual VSD. In eight patients, transient arrhythmia was found but soon returned to sinus rhythm. Five patients developed complete heart block and 2 were given permanent pacemaker insertion. There were 8 RBBB, 1 LBBB and one second degree atrioventricular block patients, but all showed no clinical significance. This report suggests that surgical repair of intracardiac defects associated with corrected transposition can be achieved with acceptable low risk. Though the mortality is still high, we can improved the result by advancing surgical technique, knowledge of the special conduction system, and by improving postoperative care.

• Journal of Chest Surgery
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• v.23 no.1
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• pp.32-40
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• 1990

Surgical correction of congenital cardiac defects in infants and children with an elevated pulmonary arterial pressure or pulmonary vascular resistance carries a significant early postoperative mortality. And accurate assessments of cardiac output is critically important in these patients. From April 1988 through September 1989, serial measurements of cardiac index, ratio of pulmonary-systemic systolic pressure, ratio of pulmonary-systemic resistance, central venous pressure, left atrial pressure, and urine output during the first 48 hours after the cardiac operation were made in 30 congenital cardiac defects associated with pulmonary hypertension. Cardiac index showed significant increase only after 24 hour postoperatively and this low cardiac performance in the early postoperative period should be considered when postoperative management is being planned in the risky patients. There were no variables which showed any significant correlation with cardiac index. In 12 cases[40%], pulmonary hypertensive crisis developed during the 48 hours postoperatively, and they were treated with full sedation, hyperventilation with 100 % 0y and pulmonary vasodilator infusion. In all patient with preoperative pulmonary hypertension, surgical placement of a pulmonary artery catheter is desirable to allow prompt diagnosis of pulmonary hypertensive crisis and to monitor subsequent therapy.

• Journal of Chest Surgery
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• v.30 no.5
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• pp.528-532
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• 1997

After early surgical repair of ventricular septal rupture complicated by myocardial infarction, newly developed ventricular septal defects were discovered on the 7th and the 40th postoperative day in 2 cases. We reoperated these patients for closure of newly developed ventricular septal defects with Dacron patch successfully on the 77th and the loth day after discovery of those defects. From these results we conclude that early surgical rep ir for ruptured ventricular septum following myocardial infarction is an appropriate approach with low risk and that remnant or recurred ventricular septal defect can be corrected rather safely with proper myocardial preservation and unrestricted application of intraaortic balloon pump or other ventricular assist device.

• BMB Reports
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• v.42 no.1
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• pp.6-15
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• 2009

The most common genetic disorder Down syndrome (DS) displays various developmental defects including mental retardation, learning and memory deficit, the early onset of Alzheimer's disease (AD), congenital heart disease, and craniofacial abnormalities. Those characteristics result from the extra-genes located in the specific region called 'Down syndrome critical region (DSCR)' in human chromosome 21. In this review, we summarized the recent findings of the DYRK1A and RCAN1 genes, which are located on DSCR and thought to be closely associated with the typical features of DS patients, and their implication to the pathogenesis of neural defects in DS. DYRK1A phosphorylates several transcriptional factors, such as CREB and NFAT, endocytic complex proteins, and AD-linked gene products. Meanwhile, RCAN1 is an endogenous inhibitor of calcineurin A, and its unbalanced activity is thought to cause major neuronal and/or non-neuronal malfunction in DS and AD. Interestingly, they both contribute to the learning and memory deficit, altered synaptic plasticity, impaired cell cycle regulation, and AD-like neuropathology in DS. By understanding their biochemical, functional and physiological roles, we hope to get important molecular basis of DS pathology, which would consequently lead to the basis to develop the possible therapeutic tools for the neural defects in DS.

• Journal of Veterinary Clinics
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• v.25 no.5
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• pp.420-423
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• 2008

Ventricular septal defects (VSDs) is an opening in the ventricular septum that allows blood to flow between the ventricles. Most ventricular septal defects are located in the upper ventricular septum and can be identified by auscultation. In this report, 2 dogs with heart murmur were diagnosed as VSD using radiography and echocardiography. In radiographs, bulging sign of the main pulmonary artery or the enlargement of the left ventricle was observed. The color Doppler examination showed the left-to-right shunting of blood via interventricular septal defect.

• Journal of Chest Surgery
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• v.10 no.2
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• pp.268-273
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• 1977

During the period from March, 1963, to November, 1977, forty-eight patients with secundum type atrial septal defects have undergone surgical repair using cardiopulmonary bypass with a pump oxygenator at the Seoul National University Hospital. Twenty-six [55 percent] of the patients were females and Twenty-two [45 percent] were males. The patients varied in age from 3 years to 51 years. We have divided secundum defects into three types. These are: 1] the high defect; 2] Ovale type defect; and 3] low defect including the defect in the area of the coronary sinus. An ovale type defect was present in forty-one cases [85 percent]. Partial anomalous pulmonary venous connections were present in two patients in the high defect group. All of the forty-eight patients had had right heart catheterization before operation. The pulmonary to systemic flow ratio [Qp/Qs] was determined in our 38 patients. The Qp/Qs was less than 1.5/1 in only five of the 38 patients. Among the 33 patients with moderate and severe left-to-right shunts [Qp/Qs 1.6-3.5/1], the systolic pulmonary artery pressures. ranged from 30 to 80 mm Hg. Large left-to-right shunts [Qp/Qs>3.6/1] were present in 13 patients. The postoperative complications occurred in 13 patients [27. 1 percent]. Postoperative wound infections were the most frequent complications being present in 6 patients [12.5%]. Forty-six of the patients with secundum atrial septal defects survived surgical repair of their defects. Thus the hospital mortality of surgery was 4.2 percent. The causes of death in the early postoperative period were: 1] low cardiac output syndrome related to severe pulmonary hypertension in one case; and 2] postoperative several bleeding in one case.

• Journal of Chest Surgery
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• v.50 no.5
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• pp.378-381
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• 2017

Patients with an atrial septal defect (ASD) and severe pulmonary arterial hypertension (PAH) are considered ineligible for defect closure surgery because of the risk of right ventricular decompensation and death after the operation. We report the case of a patient with large ASD and severe PAH who was able to undergo defect closure surgery successfully following long-term use of combined oral sildenafil and beraprost.

• Journal of Chest Surgery
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• v.46 no.2
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• pp.135-137
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• 2013

An atrial septal defect is the most common type of congenital heart disease among adults. Surgical repair or percutaneous closure of the defect is the treatment options. Even though percutaneous closure seems to be less risky than surgical repair, it may result in fatal complications like device embolism, cardiac perforation and tamponade. Herein we report a case of the embolism of a device into the pulmonary artery after one hour of percutaneous closure in which the embolized device was surgically removed and the defect was closed with a pericardial patch.

• Journal of Chest Surgery
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• v.23 no.6
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• pp.1174-1179
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• 1990

Forty-five patients with double-outlet right ventricle[DORV] underwent complete intracardiac repair between July, 1983 and June, 1989. Patients with complete atrioventricular canal, atrioventricular discordance and uni-ventricular heart were excluded. The 32 male and 13 female patients ranged in age from 3 months to 15 years[mean 4 years]. Thirty-two patients had pulmonary stenosis. The early mortality was 11.ltd[5 /45] None of 27 died after a completely intraventricular repair. The mortality was 20%[1/5] for repair using transannular patch, 20% [1/5] for REV operation, 33.3%[1/3] for repair including extracardiac valved conduit, and 50% [1/2] for Jatene operation, respectively. Two modified Fontan procedures were performed without mortality. One died after Senning operation. Causes of early deaths included high residual right ventricular pressure[one patient] small left atrial and left ventricular volume[one patient], persisting severe pulmonary hypertension [one patient] and low cardiac output of unknown cause [two patients]. Complete heart block developed in one patient. Two late deaths occurred among the 40 operative survivors [5.0Po] from persisting severe pulmonary hypertension and bleeding at reoperation. Our results indicate that significant defects can be repaired with low mortality and morbidity.