• Clinical and Experimental Pediatrics
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• v.53 no.1
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• pp.93-96
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• 2010

A 47-year-old male patient in whom atrial septal defect (ASD) had been diagnosed 15 years previously was admitted for cardiac catheterization. He had definite cyanotic lips and nail beds and severe pulmonary arterial hypertension (PAH). He had received medical treatment only for the last few years after being diagnosed with Eisenmenger syndrome. After cardiac catheterization, he received iloprost inhalation therapy pre and postoperation and was discharged after successful surgical closure of the ASD.

• Journal of Life Science
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• v.23 no.3
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• pp.347-354
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• 2013

Innate immunity is the ability to differentiate infectious agents from self. The innate immune system is comprised of a complicated network of recognition and effector molecules that act together to protect the host in the early stage of an infectious challenge. Mannose-binding lectin (MBL or mannose-binding protein, MBP) belongs to the family of $Ca^{2+}$-dependent lectins (C-type lectin with a collagen-like domain), which are considered an important component of innate immunity. While it is associated with increased risk and severity of infections and autoimmunity, the most frequent immuno-deficiency syndrome was reported to be low MBL level in blood. Deficiency of human MBL is caused by mutations in the coding region of the MBL gene. Rat homologue gene of human MBL gene was used to study functions of wild type and mutant MBL proteins. Although extensive studies have yielded the structural information of MBL, the functions of MBL, especially mutant MBL, still require investigation. We previously reported the cloning of rat wild-type MBL gene and the production of a truncated form of MBL protein and its antibody. Here, we present the cloning of mutant MBL cDNA in collagen-like domain (R40C, G42D, and G45E) using site-directed mutagenesis and differential behaviors of wild type and mutant MBL in cells. The major difference between wild type and mutant MBL was that while wild type MBL was secreted, mutant MBL was inhibited for secretion, retained in endoplasmic reticulum, and still functioned as a lectin.

• Sleep Medicine and Psychophysiology
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• v.27 no.2
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• pp.77-81
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• 2020

Obstructive sleep apnea (OSA) is a sleep-related breathing disorder in which narrowing and obstruction of the upper airway lead to frequent arousal and decreased arterial oxygenation during sleep. OSA is more common in children with genetic disorders like achondroplasia compared to children without genetic disorders. Achondroplasia is genetic disorder characterized by hypoplasia of the facial bone and skull base with foramen magnum stenosis, resulting in exceedingly high frequency of OSA. The authors present a case of a patient with achondroplasia diagnosed with severe OSA through polysomnography after adenectomy showed little therapeutic effect and who was treated with continuous positive airway pressure.

• Journal of Oral Medicine and Pain
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• v.37 no.4
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• pp.189-193
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• 2012

Oral pigmentation has numerous etiologies. It can be associated with congenital diseases and syndromes, certain acquired diseases, and systemic medications. Pigmented lesions caused by serious disease such as melanoma should be diagnosed correctly, because it would be fatal. For appropriate differential diagnosis, clinicians should know about the etiologies causing oral pigmentation and take patients history carefully. Biopsies would be necessary for histopathological findings. Close follow up for clinical symptoms are also necessary. In this case report, we presented a case of oral hyperpigmentation in Asian patient who was receiving pegylated interferon and ribavirin combination therapy for hepatitis C virus infection.

• 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.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.6 no.2
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• pp.202-207
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• 2003

Intestinal neuronal dysplasia (IND) is a disorder of abnormal intestinal innervation resulting in dysfunctional colonic motility. IND shares clinical features with Hirschsprung's disease but differentiated by histological findings such as hyperplasia of submucosal and myenteric plexuses, giant ganglia, ectopic ganglion cell and increased acetylcholinesterase activity in lamina propria. Although IND may exist as an isolated condition, more commonly, it occurs in association with Hirschsprung's disease. We report a case of twins affected with IND. Both children manifested with delayed passage of meconium and severe abdominal distention after birth. Barium enema in both patients showed microcolon. They underwent emergency ileostomy under the impression of total aganglionosis. But surgical biopsy specimens showed hyperganglionosis in submucosa with formation of giant ganglia. Both neonates suffers from several episodes of peudo-obstruction after the repair operation of colostomy.

• Journal of Yeungnam Medical Science
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• v.7 no.2
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• pp.39-48
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• 1990

Congenital duodenal obstruction in the newborn infant may be due to a variety of causes. Duodenal obstruction often presents with bilious vomiting and upper abdominal distention. Diagnosis is usually established on plain x-ray of the abdomen by the classic finding of the double-bubble. In the period July 1986 to June 1990, 16 patients with congenital duodenal obstruction were operated and the following results were obtained. 1. Sixteen patients were comprised of 11 males and 5 females, the ratio of male and female was 2.2:1. 2. Thirteen patients(81%) had been admitted to our hospital during one month of life. 3. Congenital duodenal obstruction was in 16 cases; malrotation in eight(50%), annular pancreas in six(38%), type 1 atresia in one(6%), and wind-sock anomaly in one(6%). 4. There were two premature patients and six patients of small for gestational age. 5. Overall, bilious vomiting, occurring in three fourths, was the single most frequent presenting complaint. 6. Polyhydramnios occurred in two of the patients. 7. Diagnosis was possible with clinical symptom and simple abdomen. 8. The operative procedures performed were ; duodenoduodenostomy in five, duodenojejunostomy in two, excision of wind-sock membrane in one, and Ladd's procedure in eight. 9. A total of ten asociated congenital anomalies were found in six patients. 10. Postoperative complications occurred in five cases(31%).

• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.3
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• pp.374-380
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• 2010

Treacher Collins syndrome(TCS) is a rare, incurable condition occurring in approximately 1 of 25,000 to 50,000 births. It may occur as a spontaneous mutation out of genetically normal parents or it may be manifested as an autosomal dominant pattern. TCS is characterized by facial deformities such as, underdevelopment of the maxilla, mandible and zygoma, malocclusion, bilateral deformities of auricles, antimongoloid slant of the palpebral fissures. The syndrome is often associated with cleft lip and palate, ear malformations and hearing loss, short stature, and anomalies of the heart and skeleton. Respiratory difficulty associated with air way obstruction may also be observed, and there is considerable difficulty in airway management during general anesthesia. It is necessary that dentists provide safe dental treatments and guidelines to TCS patients by providing adequate understanding about the characteristics of the syndrome and proper ways of managements. The purpose of this study is to report the dental and medical characteristics of the patient who visited the Department of Pediatric Dentistry, Yonsei University for multiple dental caries treatment and to review the literatures of TCS.

• Journal of Chest Surgery
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• v.42 no.1
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• pp.9-13
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• 2009

Background: Hypoplastic left heart syndrome is uniformly fatal if this condition is not properly treated. We reviewed the surgical results of treating hypoplastic left heart syndrome, and we evaluated the hemodynamics and functional status of these patients after they underwent a Fontan operation. Material and Method: To assess the surgical results, we retrospectively reviewed the medical records of 6 (M/F=4/2) patients who underwent a staged operation, including a Norwood procedure, a bidirectional Glenn procedure and a Fontan procedure between October 1997 to May 2005. The mean age of the patients was $17.3{\pm}10.8$ days (range: 9~36 days) at the $1^{st}$ staged operation, $8.9{\pm}7.1$ months (4.6~23.3 months) at the $2^{nd}$ staged operation (the Bidirectional Glenn procedure) and $32.4{\pm}9.8$ months at the final staged operation (the Fontan procedure). During the $2^{nd}$ staged operation, one of the patients received tricuspid valve repair due to regurgitation. All the patients underwent an extracardiac Fontan procedure using Gore-Tex conduit (20 mm: 2 patients, 18 mm: 4 patients) and one of them required fenestration. Result: 21 patients underwented a Norwood procedure. There were 7 early deaths and 4 interstage deaths. Bidirectional cavopulmonary shunt was performed in 10 patients and the Fontan procedure was done in 6 (mortality: 1 patient, Flow up loss: 1 patient, Awaiting a Fontan procedure: 2 patients). After the Fontan procedure, there was no complication except for one case of post operative bleedings. All the patients had good ventricular function and 2 had grade I tricuspid regurgitation, as noted on their echocardiography. The average follow up period after the Fontan procedure was $19.6{\pm}14.9$ months (range: 1.5~39.1 month). All the patients had normal sinus rhythm and they were put on aspirin and cardiac medication. During follow up period, all the patients had a good functional status (NYHA functional class I). Conclusion: All the patients who suffered with hypoplastic left heart syndrome and who underwent a Fontan procedure achieved a good hemodynamic and functional status, even though there was a relatively high operative mortality rate after stage I Norwood palliation. Therefore, thise staged operation should be strongly recommended as an important surgical strategy for treating hypoplastic left heart syndrome.

• Journal of Chest Surgery
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• v.36 no.6
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• pp.418-421
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• 2003

Heart-lung transplantation is a widely accepted treatment for Eisenmenger'syndrome. The patient is a 41-years-old male diagnosed with Eisenmenger'syndrome due to patent ductus arteriosus. The pressures were checked as follows: aorta 130/80 mean 100 mmHg, pulmonary artery 130/80 mean 109 mmHg, and right ventricle 130/20 mmHg, right atrium mean 20 mmHg. The patient needed heart-lung transplantation due to enlarged right pulmonary artery (diameter 7.5 cm). The donor was a 24 years-old male diagnosed as brain death due to subdural hematoma. Ligation of patent ductus arteriosus was performed under the cardiopulmonary bypass followed by heart-lung transplantation. Patient was extubated on postoperative day one, transferred to the general ward on day 3, and was discharged on postoperative day 33. Cardiac and lung biopsy was performed on postoperative day 41 with no signs of rejection.