• Journal of Chest Surgery
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• v.31 no.8
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• pp.763-769
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• 1998

Background: Supravalvular aortic stenosis is a rare form of congenital cardiac anomaly involving ascending aorta distal to coronary orifice. Materials and methods: We operated 12 cases of supravalvular aortic stenosis between July 1986 and March 1997. Age ranged from 4 to 17(mean 10.2) years and 11 of them were male. Nine patients had clinical features of Williams syndrome. We experienced two types of supravalvular aortic stenosis, including 10 hour glass type and 2 diffuse type. Results: Preoperative transaortic pressure gradient ranged from 40 to 180(mean 92) mmHg by cardiac catheterization. Pulmonary stenosis was associated in 5 and 2 of them required angioplasty. Operative techniques included 6 standard aortoplasty with elliptical patch, 4 extended aortoplasty with inverted Y shaped patch, and 2 modified Brom's repair. There were no operative deaths. Postoperative echocardiographic evaluation was done at a mean interval of 12 months. Grade I or II aortic regurgitation was found in 3 cases. Postoperative cardiac catheterization revealed a mean transaortic pressure gradient of 26 (range 0 to 75) mmHg. A mean pressure drop was 78(range 30 to 114) mmHg. All patients were followed up for a mean of 40(range 1 to 67) months with uneventful clinical course. Conclusions: Our data proved the low mortality and excellent hemodynamic improvement after surgical relief of supravalvular aortic stenosis in children.

• Journal of Chest Surgery
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• v.39 no.1 s.258
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• pp.18-27
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• 2006

Background: Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly, but is one of the most common causes of myocardial ischemia which would result in high mortality within the first year of life. This is our early result of the surgical management for these patients. Material and Method: From June 1989 to July 2003, 6 patients with ALCAPA and one patient with ARCAPA (Anomalous origin of the Right coronary artery from the pulmonary artery) underwent surgical repair. We have reviewed the all medical records, electrocardiogram, chest X-ray and echocardiography retrospectively. Result: Three of the patients were boys and four were girls. The median age at the operation was 5.4 months (Range: 3$\∼$33 months). The average body weight of at the operation was 6.7 kg (Range: 3.7$\∼$11.3 kg). A mean follow up period was 18 months. Only 3 patients were initially diagnosed as ALCAPA. And 3 patients had moderate mitral regurgitation. Immediate coronary artery reimplantation on diagnosis with the aim of restoring a two-coronary system circulation was done. The average bypass time was 114$\pm$37 minutes, and the average aortic cross clamping time was 55$\pm$22 minutes. The average stay of intensive care unit was 5$\pm$3 days, the mean mechanical ventilator time was 38$\pm$45 hours and the hospital stay after operation was 12$\pm$5 days. There were significant improvements in electrocardiogram and chest X-ray of the all patients except one late death patient. The ventricular function showed almost normal recovery after operation; the EF (Ejection Fraction) increased from 41.2$\pm$ 10.3$\%$ to 60.5$\pm$ 15.8$\%$ within 1 month and to 59.8$\pm$13.9$\%$ within 1 year after operation, the SF (Shortening Fraction) increased from 23.6$\pm$4.7$\%$ to 38.6$\pm$8.4$\%$ within 1 month and to 37.4$\pm$7.9$\%$ within 1 year after operation, LVEDDI (Left Ventricular End-diastolic Dimension Index) decreased from 100.8$\pm$25.6 mm/$m^{2}$ to 90.3$\pm$ 19.2 mm/$m^{2}$ within f month and to 79.3$\pm$ 15.8 mm/$m^{2}$ within 1 year after operation. Concomitant mitral repair was done in two patients with anterior mitral leaflet prolapse. In every patient, mitral valve showed less than mild regurgitation during follow up. One late death occurred in which patient Dor procedure was applied 10 months after initial operation due to the dilated cardiomyopathy Conclusion: In the management of this rare and could be fatal Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA), early suspicion and correct diagnosis is of most important. But, after diagnosis, immediate restoration of 2 coronary systems could result in good outcome.

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.4
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• pp.766-770
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• 2008

Gingival fibromatosis is a rare condition characterized by varying degrees of gingival hyperplasia. Gingival fibromatosis usually occurs as an isolated disorder or can be associated with a variety of other syndromes. It usually appears at the time of eruption of permanent dentition but, can develop at the time of eruption of the primary dentition and rarely at birth. It may deform palatal contour and subsequently restrict the tongue movement, resulting in interference during speech and mastication. In addition, it incapacitates maintenance of normal lip closure. A 14-month-old girl visited the department of pediatric dentistry, Yonsei University Dental Hospital, for the congenital gingival overgrowth. There was no one in the family, who showed similar pattern of gingival growth. The intraoral clinical examination revealed generalized severe gingival enlargement throughout the maxillary and the mandibular arches. Enlarged gingival tissue was pink and had firm consistency. She was referred for chromosomal analysis, which confirmed absence of any known syndrome. Under local anesthesia, "Punch-biopsy" was performed on the labial area, and the specimen was histologically diagnosed as gingival fibromatosis. For she did not have any medical problem nor familiar history, she was diagnosed as having idiopathic gingival fibromatosis. Regarding her age and behavior, close follow-up was decided.

• Journal of Life Science
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• v.31 no.8
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• pp.771-777
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• 2021

Human endogenous retroviruses (HERVs) were inserted into the human genome millions of years ago but they are currently inactive and non-infectious due to recombinations, deletions, and mutations after insertion into the host genome. Nonetheless, recent studies have shown that HERV-derived elements are actually involved in physiological phenomena and certain diseases including cancers. Among the various physiological phenomena related to HERV-derived elements, it is necessary to focus on inflammatory response. HERV-derived elements have been reported to be directly involved in various inflammatory diseases, including autoimmune diseases such as rheumatoid arthritis, multiple sclerosis, amyotrophic lateral sclerosis, and Sjogren's syndrome. As a mechanism for regulating inflammation through HERV-derived elements, the possibility that HERV-derived elements may cause nonspecific innate immune processes and that HERV-derived RNA or proteins may cause selective signaling mechanisms through specific receptors can be considered. However, the mechanism through which HERV-derived elements regulate inflammatory response, such as how silent HERV elements are activated in inflammatory response and what factors and signaling mechanisms are involved in HERV-derived elements, have not been identified to date, making it difficult to study the onset of HERV-related inflammatory disease. In this review, we introduce HERV-related autoimmune diseases and propose the mechanisms of HERV-derived elements at the molecular level of HERV in inflammatory response.

• Clinical and Experimental Pediatrics
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• v.49 no.8
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• pp.845-850
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• 2006

Purpose : To assess the incidence of neonatal hearing loss in a neonatal intensive care unit and the relative importance of risk factors for hearing imparement in a neonatal intensive care unit which the Joint Committee on Infant Hearing(JCIH) had recommended. Methods : One thousand, two hundred and one newborns admitted to the Good Moonhwa Intensive Care Unit from May 2003 to December 2005 were assesed using the automated auditory brainstem response(AABR). The screening was performed on those aged more than 36 weeks and weighing more than 2,200 g. We divided the infants into two groups, 'pass' and 'refer'. The 'refer' group were retested one month later, and if classified as 'refer' during the retest, were referred to a hearing impairment clinic. Results : From the 1,201 neonates, 1,187(98.8 percent) passed the test and 14(1.2 percent) failed. 293(24.4 percent) of the 1,201 neonates had a risk factor for hearing impairment; 282(96.2 percent) passed the test and 11(3.8 percent) failed. The group with risk factors were shown to have a higher incidence of hearing loss(P<0.001). The neonates in the refer group were shown to have a higher incidence of ototoxic drugs(P<0.001), low birth weight(<1,500 g)(P<0.001) and craniofacial anomalies(P=0.007). On the other hand, there were no statistical differences between the pass and refer groups in congenital infection, hyperbilirubinemia, bacterial meningitis, low Apgar scores, prolonged mechanical ventilation and syndromes known to include hearing loss. Conclusion : In order to identify hearing-impaired infants within an appropriate period, neonatal hearing screening tests and identification of the risk factors for neonatal hearing loss are important.

• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1205-1210
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• 2008

Purpose : The development of the corpus callosum occupies the entire period of cerebral formation. The myelination pattern on magnetic resonance imaging (MRI) is very useful to evaluate neurologic development and to predict neurologic outcome in high risk infants. The thickness of the corpus callosum is believed to depend on the myelination process. It is possible to calculate the length and thickness of the corpus callosum on MRI. Thus, we can quantitatively evaluate the development of the corpus callosum. We investigated the clinical significance of measuring various portions of the corpus callosum in neonate with neurologic disorders such as hypoxic brain damage and seizure disorder. Methods : Forty-two neonates were evaluated by brain MRI. We measured the size of the genu, body, transitional zone, splenium, and length of the corpus callosum. Each measurement was divided by the total length of the corpus callosum to obtain its corrected size. The ratio of corpus callosal length and the anteroposterior diameter of the brain was also measured. Results : There was no statistical significance in the sample size of each part of the corpus callosum. However, the corrected size or the ratio of body of the corpus callosum correlated with periventricular leukomalacia and hypoxic ischemic encephalopathy. Conclusion : The abnormal size of the corpus callosum showed a good correlation with periventricular leukomalacia and hypoxic ischemic encephalopathy in neonates. We can predict clinical neurological problems by estimation of the corpus callosum in the neonatal period.

• Journal of Preventive Medicine and Public Health
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• v.22 no.2 s.26
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• pp.215-222
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• 1989

The relationship between cadmium level and mental retardation was investigated. The 297 subjects with mental retardation were drawn from two schools providing special educational services, one, consisted of children living in an orphan home, another, children with parents. The 117 control subjects were drawn from whom had got average or above average academic achivement in a general elementary school. Hair sample was taken from the nape of the neck and the cadmium and zinc analysis were carried out on an atomic absorption spectrophotometer (IL 551). Children in the retarded group had significantly higher cadmium levels compared with control but not in zinc levels. There was no relationship between metal concentrations and age except control male group, which showed significant positive linear relationship in zinc, and there was no difference between sex in both metal except the male orphan group in cadmium. In the orphan group, there was relationship between severity of retardation and cadmium concentration in both sex but not in retarded children with parents. No difference in cadmium levels between the group with Down's syndrome, one of causes of mental retardation, and the control group suggested the cadmium as a possible cause of mental retardation. In the case of accompanying autism, zinc level was significantly lower than that of other accompanying diseases. Although not establishing an etiologic relationship, findings of this study suggest that there are some influeces of cadmium on mental retardation, and call for a continuing study.

• Journal of Chest Surgery
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• v.40 no.4 s.273
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• pp.280-287
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• 2007

Background: We retrospectively evaluated the clinical results of surgically managing patients with Ebstein's anomaly. Material and Method: Between Feb. f 984 and June 2006, 50 patients who underwent surgical treatment for Ebstein's anomaly at Yonsei Cardiovascular Center were retrospectively reviewed. The mean age of the patients was 26.9 years and 19 patients were male, Associated anomalies included atrial septal defect (33), patent ductus arteriosus (2), ventricular septal defect (1), and pulmonary stenosis (4), and 90%, (45/50) of the patients had more than a moderate degree of tricuspid regurgitation. Carpentier type A was present in 6 patients, type B in 26, type C in 14 and type D in 4. Ten patients were associated with WPW syndrome. Conservative surgery was possible in 31 patients (tricuspid annuloplasty, plication of the atrialized RV), Fontan's operation was peformed in 4 patients, tricuspid valve replacement was done in 12 and palliative surgery was done in 2 patients. Thirteen patients were associated with hi-directional cavopulmonary shunt (BCPS: one and a half ventricular repairs): 10 patients with WPW syndrome and 4 patients with atrial fibrillation underwent concomitant ablation. Result: The postoperative median NYHA functional class $(3{\rightarrow}1)$ and the mean cardio-thoracic ratio $(0.65{\rightarrow}0.59)$ were decreased significantly (p<0.001, p=0.014). The mean oxygen saturation $(86.6{\rightarrow}94.1%)$, and median TR grade $(4{\rightarrow}1)$ were also significantly improved (p=0.004, p<0.001). For comparison of BCPS and conservative surgery, the preoperative right ventricular pressure (33.0 vs. 41.3 mmHg), the ICU stay (2.80 vs. 1.89 days), the hospital say (10.6 vs. 16.8 days), and the left ventricular ejection fraction (64.3 vs. 72.8%) were statistically different. Postoperative mortality occurred in 3 patients (6%) due to biventricular failure in 2 patients and sepsis in the other patient. The mean follow up duration was 101.5 months, and one patient died of Fontan failure and 6 patients required reoperation (bioprosthetic degenerative change (2) and Fontan conversion (4)). The overall survival rate at 10 years was 90.2%, the freedom from reoperation rate and rate of cardiac related events were 78.9% and 49.2%, respectively. Conclusion: Surgical management of Ebstein's anomaly can be performed safely, and the associated BCPS may be helpful for high-risk patients. Adequate application of surgical management may increase the long-term survival with a reduced rate of reoperation.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1065-1074
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• 2002

Purpose : The purpose of this study is to analyze the epidemiologic characteristics of sudden unexpected death in infancy and to evaluate the importance of postmortem autopsy. Methods : We reviewed, retrospectively, medical records of 34 infants admitted to Kangnam General Hospital from January 1987 to December 2001 because of sudden unexpected death. We investigated the cause of death through medical history, death scene examination, autopsy findings, acylcarnitine and organic acid analysis. Results : Among the total 34 infants, 18 were male(52.9%) and 16 were female(47.1%). Thirty infants(88%) were below the six months of age. Winter was the most affected season(38.2%). Eighteen infants(52.9%) died between 6 and 12AM. The prone sleeping position was observed more frequently than the supine position at death; nine cases in the prone position, six cases in the supine position. The cause of death of 23 cases could not be found by only history and death scene examination. Autopsy was done in 13 cases. Seven cases of them were thought to be SIDS. In six cases, we explained the cause of death with autosy findings. They were an endocardial fibroelastosis, a nesidioblastosis, a subdural hematoma, a bronchopneumonia and two fatty changes of liver. Metabolic screening tests performed in three cases to rule out metabolic disorder since 2000 were all normal. Conclusion : We concluded that autopsy and metabolic screening test should be performed to find out the cause of death in sudden unexpected death in infancy.

• Clinical and Experimental Pediatrics
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• v.52 no.3
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• pp.289-294
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• 2009

Purpose : To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. Methods : From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. Results : Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9 %) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and new-born screening tests. Conclusion : Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.