• Proceedings of the KSME Conference
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• 2008.11b
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• pp.2410-2414
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• 2008

Human heart valves diseased by congenital heart defects, rheumatic fever, bacterial infection, cancer may cause stenosis or insufficiency in the valves. Treatment may be with medication but often involves valve repair or replacement (insertion of an artificial heart valve). Bileaflet mechanical heart valves (BMHVs) are widely implanted to replace the diseased heart valves, but still suffer from complications such as hemolysis, platelet activation, tissue overgrowth and device failure. These complications are closely related to both flow characteristics through the valves and leaflet dynamics. In this study, the physiological flow interacting with the moving leaflets in a bileaflet mechanical heart valve (BMHV) is simulated with a strongly coupled implicit fluid-structure interaction (FSI) method which is newly organized based on the Arbitrary-Lagrangian-Eulerian (ALE) approach and the dynamic mesh method (remeshing) in FLUENT. The simulated results are in good agreement with previous experimental studies. This study shows the applicability of the present FSI model to the complicated physics interacting between fluid flow and moving boundary.

• Korean Journal of Cleft Lip And Palate
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• v.11 no.2
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• pp.65-70
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• 2008

Cleft lip and/or palate are common birth defects in humans and the causes including multiple genetic and environmental factors are complex. Combinations of genetic, biochemical, and embryological approaches in the laboratory mice are used to investigate the molecular mechanisms underlying normal craniofacial development and the congenital craniofacial malformations including cleft lip and/or palate. Both forward and reverse genetic approaches are used. The forward genetic approach involves identification of causative genes and molecular pathways disrupted by uncharacterized mutations that cause craniofacial malformations including cleft lip and/or cleft palate. The reverse genetic approach involves generation and analyses of mice carrying null or conditional mutations using the Cre-loxP mediated gene targeting techniques.

• Archives of Plastic Surgery
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• v.32 no.5
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• pp.667-670
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• 2005

Congenital facial cleft is a rare entity and appears along by the line of different processes of the facial development. An isolated cleft of the nose has been reported not often in the literature. We treated a patient with an isolated nasal cleft associated with undefined cranial anomaly. On 3D CT scan was seen a bony cleft traversing the pyriform aperture lateral to the anterior nasal spine. The nasal septum and frontal process of the maxilla were intact. There also was found bilateral bony defects in the frontal bone and bilateral frontal boss. The nasal cleft and frontal defect and boss were corrected by two stages: anterior two-third of the cranial vault with bilateral frontal boss was remodeled at the age of two years and the nasal cleft was repaired with a local rotation flap at age 3.

• Journal of Chest Surgery
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• v.16 no.3
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• pp.322-330
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• 1983

TAPVC represents 1 to 4% of all congenital cardiac defects. Generally severe and refractory cardiac failure develops in the majority of patients in the early infancy. In a small minority of patient, they are relatively asymptomatic in infancy, but symptoms will develop of necessity In the later life. Our three cases had dyspnea on exertion and cyanosis and had a history of frequent respiratory infections. All 3 cases had the typical showman configuration on roentgenograms of the chest. Current surgical therapy has greatly altered the unfavorable course of these patients after institution of extra-corporeal circulation. We have experienced three cases from June, 1973 to May, 1983, the patients were undergone complete repair with extracorporeal circulation at the Department of Thoracic and Cardiovascular Surgery in the Yonsei University. The ages ranged from 12 years to 14 years, all cases were supracardiac type of TAPVC. Only one case died due to bleeding from anastomosis site between LA and pulmonary venous trunk. In the remaining two patients with complete corrections of TAPVC, there was excellent relief of symptoms such as dyspnea and cyanosis. Their postoperative course have been good during follow-up.

• Journal of Chest Surgery
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• v.19 no.1
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• pp.122-133
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• 1986

Thirteen patients with cyanotic cardiac malformations having more complex intracardiac defects, hemodynamics and operative procedures than ones in Tetralogy of Fallot undertaken total surgical corrections from July 1981 to August 1985. The cases of corrective surgery for complex cardiac malformations were 3.9% of all congenital cardiac malformations and 12.6% of cyanotic cardiac malformations. Six patients died within 30 days after surgery. So operative mortality was 46%; Transposition of the great arteries, two of 4 patients, due to low cardiac output syndrome and tracheal bleeding ; Univentricular heart, one of 3 patients, due to bleeding; Corrected transposition of the great arteries, one of 2 patients, due to acute heart failure; Tricuspid atresia, one of 2 patients, due to low cardiac output syndrome; Double outlet right ventricle, one of single patient, due to respiratory failure. The cases of surgical correction for complex cardiac malformations are progressively increasing in numbers. The more accurate evaluation of anatomical condition and hemodynamics in preoperative diagnosis, studies on applicable surgical procedure and perioperative care of patients are necessary in the improvement of clinical and surgical results.

• 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.

• Korean Journal of Veterinary Research
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• v.56 no.1
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• pp.53-55
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• 2016

A 1-year-old Korean domestic short-haired cat presented with skin hyperextensibility and a severely macerated wound on the skin of the dorsal part of the neck. Diagnostic studies including histopathology and skin extensibility index revealed congenital cutaneous asthenia (Ehlers-Danlos syndrome). In this cat, the skin wounds and defects were successfully managed with standard wound management and cosmetic surgery. Although skin hyperextensibility is persistent, the cat has lived well without other complications to date. To the best of our knowledge, this is the first report of cutaneous asthenia in a cat in Korea.

• Journal of Genetic Medicine
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• v.18 no.1
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• pp.24-30
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• 2021

Epigenetics deals with modifications in gene expression, without altering the underlying DNA sequence. Genomic imprinting is a complex epigenetic phenomenon that refers to parent-of-origin-specific gene expression. Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are congenital imprinting disorders with mirror opposite alterations at the genomic loci in 11p15.5 and opposite phenotypes. BWS and SRS are important imprinting disorders with the increase of knowledge of genetic and epigenetic mechanisms. Altered expression of the imprinted genes in 11p15.5, especially IGF2 and CDKN1C, affects fetal and postnatal growth. A wide range of imprinting defects at multiple loci, instead of a restricted locus, has been shown in some patients with either BWS or SRS. The development of new high-throughput assays will make it possible to allow accurate diagnosis, personalized therapy, and informative genetic counseling.

• Perinatology
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• v.29 no.4
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• pp.185-188
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• 2018

Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis, and meningomyelocele. We describe a spondylocostal dysplasia form of Jarcho-Levin syndrome that was prenatally diagnosed at 11 weeks of gestation and surviving. Although the patient had sporadic-type Jarcho-Levin syndrome, with normal karyotype and no family history of disease, the assessment of inheritance patterns and genetic counseling for the parents was important to inform them about the potential risks.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.24 no.2
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• pp.238-243
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• 2021

Caudal regression syndrome (CRS) is a rare neural tube defect that affects the terminal spinal segment, manifesting as neurological deficits and structural anomalies in the lower body. We report a case of a 31-month-old boy presenting with constipation who had long been considered to have functional constipation but was finally confirmed to have CRS. Small, flat buttocks with bilateral buttock dimples and a short intergluteal cleft were identified on close examination. Plain radiographs of the abdomen, retrospectively reviewed, revealed the absence of the distal sacrum and the coccyx. During the 5-year follow-up period, we could find his long-term clinical course showing bowel and bladder dysfunction without progressive neurologic deficits. We present this case to highlight the fact that a precise physical examination, along with a close evaluation of plain radiographs encompassing the sacrum, is necessary with a strong suspicion of spinal dysraphism when confronting a child with chronic constipation despite the absence of neurologic deficits or gross structural anomalies.