• Clinical and Experimental Pediatrics
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• v.55 no.3
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• pp.107-110
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• 2012

Partial trisomy 3p results from either unbalanced translocation or $de$ $novo$ duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4)(p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

• Journal of Chest Surgery
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• v.50 no.2
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• pp.110-113
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• 2017

A 43-year-old man who had had a history of atrial septal defect (ASD) device closure 31 months previously presented with abrupt chest and back pain along with progressive cardiogenic shock and cardiac arrest. After resuscitation, he was diagnosed with cardiac tamponade. Diagnostic and therapeutic surgical exploration revealed left atrium (LA) perforation due to LA roof erosion from a deficient aortic rim. Device removal, primary repair of the LA perforation site, and ASD patch closure were performed successfully. The postoperative course was uneventful. The patient was discharged after 6 weeks of empirical antibiotic therapy without any other significant complications.

• Asian-Australasian Journal of Animal Sciences
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• v.23 no.10
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• pp.1282-1290
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• 2010

The study was carried out to assess the developmental abnormalities induced by Cytotec in mice during intrauterine life. Pregnant mice were exposed to a single dose of 0, 0.02, 0.04, 0.06, 0.08 and $0.1{\mu}g$/g BW on day 8 of gestation. Fetuses were recovered on day 18 of gestation. These fetuses were subjected to morphological and morphometric studies. Morphological studies showed abnormalities like anophthalmia, microophthalmia, micromelia and syndactyly. In addition to these, resorptions were also encountered in the higher dose groups. Morphometric analysis showed an overall reduction in body weight, crown rump length, brain and eye circumference, pinna and snout size, length of fore and hind limb and tail size with a significant difference (p<0.001) compared to controls. The outcomes of histological studies revealed some brain defects like hydrocephaly, enlarged third ventricle and undifferentiated ectoneural cells and abnormalities of the heart included right auricle thrombosis and degeneration of trabecular zone.

• Clinical and Experimental Pediatrics
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• v.46 no.1
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• pp.83-85
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• 2003

Deletion of the short arm of chromosome 6 is relatively rare, with the characteristic features of craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities. Here author reports a premature girl with bilateral anophthalmia, bilateral hydrocephalus and marked hypotonia, whose chromosome analysis revealed a 46, XX, del(6)(p23) chromosome constitution.

• Journal of Chest Surgery
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• v.26 no.6
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• pp.488-491
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• 1993

Over the past 8 years, from 1985 to 1992, 6 patients with ruptured aneurysm of the sinus of Valsalva underwent open heart surgery in the Department of Thoracic and Cardiovascular Surgery, Chungnam National University Hospital. Five aneurysms originated from the right coronary sinus and ruptured into right ventricle and one from noncoronary sinus into RA. Ventricular septal defects were associated with 5 cases and one had no associated cardiac anomalies. The ruptured aneurysms were repaired through double incisions in 3 cases, through aortotomy in 2 cases and through right atriotomy in 1 case. There were no early and late complications and follow up results are excellent in all patients.

• Journal of Chest Surgery
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• v.26 no.12
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• pp.904-908
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• 1993

Twelve patients had undergone repair of atrioventricular septal defects. Age at operation ranged from 2.4 years to 17 years[mean, 8.25 years]. Five patients were male and seven were female. Three patients had complete atrioventricular septal defect[Rastelli type A] associated with Down`s syndrome. One of the three patient with complete atrioventricular septal defect had tetralogy of Fallot. Three patients had the intermediate form and seven patients had the partial form. The primum atrial septal defect was closed with pericardial patch. The atrioventricular valve septal commissure[mitral cleft] was closed with pledgeted sutures. Three complete atrioventricular septal defect were undergone by two-patch technique. A crescent-shaped Dacron patch was used to occlude the ventricular septal defect. One patient of partial form was sudden death 5 days postoperatively. There were no another complications after surgery. One patient underwent reoperation for opened mitral cleft 2.5 years postoperatively. New York Heart Association functional class of patients was improved postoperatively.

• Journal of Chest Surgery
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• v.32 no.12
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• pp.1111-1114
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• 1999

Cor triatriatum is a rare congenital heart disease that is often lethal in children if not correctly identified and properly managed, Characteristically an anomalous membrane divides the left atrium into two chambers one located posterosuperiorly which is connected to the common pulmonary venous trunk and the other anteroinferiorly which is connected to the left atrial appendage and the mitral valve. Eight patients with Cor triatriatum were been seen at our hospital from 1984 to 1999. The clinical presentation diagnostic evaluation and surgical results are outlined in this retrospective review. Resection of the obstructing anomalous atrial membrane was performed using a hypothermic cardiopulmonary bypass in all cases. Right atriotomy was performed in all patients and left atriotomy was performed in a patient who had poor preoperative general conditions and serious cardiac defects(TAPVR & hypoplastic left ventricle) died of low cardiac output during the immediate postoperative period. The postoperative course has been excellent in the remaining. Cor triatriatum is amenable to surgical repair with excellent results when diagnosed early and in those who are not complicated by other complex cardiac anomalies.

• Journal of Chest Surgery
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• v.45 no.5
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• pp.320-322
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• 2012

The percutaneous transcatheter closure of secundum atrial septal defect has recently become an increasingly widespread alternative to surgical closure in many centers. Although immediate, short, and intermediate term results of percutaneous transcatheter septal closure are promising, the procedure is not free from inherent complications that could be lethal. We report a case of device embolization necessitating emergent surgical retrieval.

• Clinical and Experimental Pediatrics
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• v.52 no.4
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• pp.481-487
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• 2009

Purpose : This study investigated the clinical course and prognostic factor of very low birth weight infants (VLBWI) with hemodynamically significant congenital heart defects (CHDs). Methods : Medical records of 1,098 VLBWI with birth weight <1,500 g who had been admitted to the neonatal intensive care unit of Samsung Medical Center from October 1994 to December 2007 were reviewed retrospectively. The data for these patients with hemodynamically significant CHD (n=33) were compared with those without CHD (n=1,065). Results : The incidence of CHD was 3.0% (33 patients) 7 patients (21%) had CHD combined with the congenital abnormalities or chromosomal disorders. The most common CHD was a ventricular septal defect. The incidence of intrauterine growth retardation was higher in patients with CHD than in patients without CHD (34% vs. 20%), but there were no significant differences in gestational age, birth weight, respiratory distress syndrome, bronchopulmonary dysplasia, necrotizing enterocolitis, severe intraventricular hemorrhage (${\geq}$Gr III), and periventricular leukomalacia. Cardiac surgery was performed on 13 patients (39%). Nine patients received staged operations, and 10 patients received early intervention. The overall mortality in patients who had CHD was higher than in the patients who did not have CHD (27% vs. 16%). In patients with CHD, congenital abnormalities or chromosomal disorders were more important factors for increased mortality (86% vs. 11%) than the degree of complexity of CHD (19% vs. 42%). Conclusion : The most important prognostic factors of VLBWI with CHD are the associated congenital abnormalities or chromosomal disorders.

• The Journal of the Korea Contents Association
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• v.20 no.9
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• pp.659-671
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• 2020

Severe congenital heart disease (CHD) is a chronic disease requiring continuous and holistic health management to improve patients' quality of life. This study explored the health management experiences of adolescents with severe CHDs in Korea. On the basis of in-depth interviews with nine youths, four categories and 12 subcategories were identified. The participants lacked a full understanding of their health status and the need for appropriate health management for their health status. Nonetheless, they practiced health management to some extent, in ways that were affected by heart function, self-identity, and social support. Although adolescents with severe CHDs were affected by physical limitations and the discriminatory gaze around them, they tried to achieve normalcy through managing information, seeking homogeneity with peers, and fostering positive acceptance about their disease. Regarding demands for health management programs, disease knowledge and mental health content were preferred, and the preferred delivery methods were self-help group camps and smartphone applications. Based on the results of this study, we suggest a health management intervention to promote a healthy transition to adulthood for adolescents with severe CHDs, and that policy-makers should consider measures that would enable a successful transition to adulthood in the future of youth with severe CHDs.