• Journal of Chest Surgery
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• v.39 no.2 s.259
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• pp.99-105
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• 2006

Background: Interrupted aortic arch is a rare congenital heart anomaly which still shows high surgical mortality. In this study, we investigated the causes of and the risk factors for mortality to improve the surgical outcomes for this difficult disease entity. Material and Method: From 1984 to 2004, 42 patients diagnosed as IAA were reviewed retrospectively. Age, body weight at operation, preoperative diagnosis, preoperative PGE1 requirement, type of interrupted aortic arch, degree of left ventricular outflow stenosis, CPB time, and ACC time were the possible risk factors for mortality. Result: There were .14 hospital deaths. Preoperative use of PGE1, need for circulartory assist and aortic cross clamp time proved to be positive risk factors for mortality on univariate analysis. Preoperative left ventricular outflow stenosis was considered a risk factor for mortality but it did not show statistical significance (p-value=0.61). Causes of death included hypoxia due to pulmonary banding, left ventricular outtract stenosis, infection, mitral valve regurgitation, long cardiopulmonary bypass time and failure of coronary transfer failure in TGA patients. Conclusion: In this study, we demonstrated that surgical mortality is still high due to the risk factors including preoperative status and long operative time. However preoperative subaortic dimension was not related statistically to operative death statistically. Adequate preoperative management and short operation time are mandatory for better survival outcome.

• The Korean Journal of Nuclear Medicine Technology
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• v.15 no.1
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• pp.113-116
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• 2011

Purpose: Acetylcholine receptor antibodies cause acetylcholine receptor loss, which is responsible for failure of the neuromuscular junction in the acetylcholine receptor autoantibody. The disease characterized by muscle weakness and fatigue, myasthenia gravis(MG) occurs when the body inappropriately produces antibodies against acetylcholine receptors, and thus inhibits proper acetylcholine signal transmission. And this reason, the measurement of acetylcholine receptor antibodies can be of considerable value in disease diagnosis. Methods: From 2010. August to September, we tested orderd AchRAb 19 samples to get the results. 1. Pipette $5{\mu}{\ell}$ undiluted patient sera and kit control and add 125I AChR $50{\mu}{\ell}$ and incubate at R.T for 2 hours. 2. Pipette $50{\mu}{\ell}$ of anti-human IgG into each tube, and incubate at $2{\sim}8^{\circ}C$ for 2 hours. 3. Pipette $25{\mu}{\ell}$ precipitation enhancer into each tube and add 1mL washing solution into all tubes. 4. Centrifuge each tube for 20minutes at $2{\sim}8^{\circ}C$ at 1500g. 5. Aspirate or decant the supernatant. 6. Pipette 1 mL washing solution into all tubes and resuspend the pellet and repeat centrifugation. 7. Aspirate or decant the supernatant and count all tubes on a gamma counter. Results: Cut off value is 0.2 nmol/L and the results taken below 0.2 nmol/L are negative, the results above that identified as being positive values. We assayed the 19 patients samples and got 7 positive results. Of which, 6 patients were diagnosed as MG.(85.7%). Conclusions: Acetylcholine Receptor autoantibody test is intended for use by persons only for the quantitative determination of it in human serum. Even if measurement of the antibodies is not a routine test, it can be of considerable value in disease diagnosis.

• Clinical and Experimental Pediatrics
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• v.45 no.5
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• pp.609-614
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• 2002

Purpose : The purpose of our investigation was to explore the natural course, and the factors that influence the natural course, in ostium secundum atrial septal defect(ASD) diagnosed within the first 4 weeks of life. Methods : We studied patients with ASD diagnosed within the first 4 weeks of life during the period from September 1995 to September 1999 in our hospital. The diagnosis and measuring of the size of ASD was carried out by two-dimensional echocardiogram(2DE, Hewlett-Packard Sonos $2500^{(R)}$) from subcostal long and short axis views. Results : There were 61 patients - 29 males and 32 females. According to the size of their defects, we divided them into four groups; group A(less than 4 mm : 24 cases), group B(four mm-six mm : 27 cases), group C(six mm-eight mm : six cases), group D(more than eight mm : four cases). In groups A and B, 22 of 24 patients(91.7%) and 23 of 27 patients(85.2%) had each closed spontaneously. In group C, four of six patients had closed spontaneously. In group D, no patient had closed spontaneously and three of four patients had been closed surgically. There were significant differences in the rate of spontaneous closure between less than six mm group and more than six mm group in the size of the defect(P<0.05). There were no significant differences in the rate of spontaneous closure between ASD combined with simple cardiac defect and isolated secundum ASD. Conclusion : We conclude that defects smaller than six mm in diameter are very likely to close spontaneously.

• Journal of the korean academy of Pediatric Dentistry
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• v.29 no.3
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• pp.439-443
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• 2002

The purpose of this study was to analyze the parental consultation. Also, it was to investigate the tendency divided into different subjects. The subjects were 2142 questions on korean academy of pediatric dentistry homepage. The questions were categorized into 7 subjects, 37 subdivided subjects and children age. The results were as follows: 1. Age group was divided into $0{\sim}6months$, $7{\sim}12months$, $13{\sim}24months$, $25{\sim}36months$, $3{\sim}6years$, $7{\sim}12years$ 12years and over 13 years. $13{\sim}24months$ and $3{\sim}6years$ age group had the largest number of questions. 2. The subject were growth & development, development disturbance & oral disease, behavior management, operative & endodontic treatment, dentition & occlusal guidance, traumatic injury & surgery and etc. Development disturbance & oral disease had the largest number of questions. 3. In subdivided subjects, operative & endodontic treatment showed the most, followed by development & eruption of teeth, traumatic injury, cross-bite, tooth brushing methods in sequence. 4. In age group within subdivided subjects, the most frequent question was neonatal & natal tooth in $0{\sim}6months$, development & eruption of teeth in $7{\sim}12months$, $13{\sim}24months$, operative & endodontic treatment in $25{\sim}36months$, $3{\sim}6years$, time & method of orthodontics in $7{\sim}12years$ and operative & endodontic treatment in over 13years. 5. The questions about cross-bite, traumatic injury and soft tissue disease were distributed evenly in age group.

• Journal of Chest Surgery
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• v.29 no.12
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• pp.1329-1336
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• 1996

From January, 1994 to January. 1996, mitral valve replacement was performed in 27 patients. Among these, 17 patients underwent mitral valve replacement(MVR) with preservation of the annulo-papillary continuity(PAPCMVR) (-Group I), and 10 patients underwent conventional methods of excision of all the chordae(Group II). The operative technique for PAPCM VR consists of the division of the anterior leaflet into anterior and posterior segments, shifting and reattachment of the divided segments to the mitral ring of the respective commissural areas. This retrospective study has been designed to evalute the postoperative left ventricular function in the two groups. In the group 1, LVEF(Left Vnetricular Ejection Fraction : %) was 52 $\pm$ 3 preoperatively And 50$\pm$3 postoperatively, LVESI Vent icular End Systolic Volume Index/mL/m2) wIns 59 :6 and 51 $\pm$ 7, LVEDI Ventricular End Diastolic Volume Index/mL/m2) was 124$\pm$ 11 and 91 :8. In the group II, LVEF was 56$\pm$1 and 47:), LVESVI 62$\pm$12 and 61$\pm$15, LVEDVI 133$\pm$27 and 104$\pm$17. : the variation of the LVEF in these two group was statistically different(p(0.05). A comparison of left ventricular function data between Group I(n: 17) and Group II(n: 10) revealed better results in echocardiographic LVEF(p<0.05), LVEDVI(p<0.01) in the former group. The mean functional class(UYHA) was 2.6 preoperative and improved to 1.0 postoperatively In group 1, and 2.8 and to 1.0 in group II. We conclude that maintenance of continuity between the mitral annulus and papillary muscles is expected to have a beneficial effect on postoperative left ventricular performance.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.62-67
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• 2018

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

• Korean Journal of Poultry Science
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• v.46 no.1
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• pp.31-37
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• 2019

A chicken clathrin-associated adaptor protein $3-{\delta}$ subunit 2 (AP3S2) is a subunit of AP3, which is involved in cargo protein trafficking to target membrane with clathrin-coated vesicles. AP3S2 may play a role in virus entry into host cells through clathrin-dependent endocytosis. AP3S2 is also known to participate in metabolic disease developments of progressions, such as liver fibrosis with hepatitis C virus infection and type 2 diabetes mellitus. Chicken AP3S2 (chAP3S2) gene was originally identified as one of the differentially expressed genes (DEGs) in chicken kidney which was fed with different calcium doses. This study aims to characterize the molecular characteristics, gene expression patterns, and transcriptional regulation of chAP3S2 in response to the stimulation of Toll-like receptor 3 (TLR3) to understand the involvement of chAP3S2 in metabolic disease in chicken. As a result, the structure prediction of chAP3S2 gene revealed that the gene is highly conserved among AP3S2 orthologs from other species. Evolutionarily, it was suggested that chAP3S2 is relatively closely related to zebrafish, and fairly far from mammal AP3S2. The transcriptional profile revealed that chAP3S2 gene was highly expressed in chicken lung and spleen tissues, and under the stimulation of poly (I:C), the chAP3S2 expression was down-regulated in DF-1 cells (P<0.05). However, the presence of the transcriptional inhibitors, BAY 11-7085 (Bay) as an inhibitor for nuclear factor ${\kappa}B$ ($NF{\kappa}B$) or Tanshinone IIA (Tan-II) as an inhibitor for activated protein 1 (AP-1), did not affect the expressional level of chAP3S2, suggesting that these transcription factors might be dispensable for TLR3 mediated repression. These results suggest that chAP3S2 gene may play a significant role against viral infection and be involved in TLR3 signaling pathway. Further study about the transcriptional regulation of chAP3S2 in TLR3 pathways and the mechanism of chAP3S2 upon virus entry shall be needed.

• Childhood Kidney Diseases
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• v.9 no.2
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• pp.222-230
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• 2005

Purpose : ARC syndrome refers to an association of arthrogryposis, renal tubular dysfunction, and cholestasis. The VPS33B gene was recently identified as the causative gene. So far, 41 cases of ARC syndrome have been reported worldwide, and it has rarely been reported in Korea. This study was conducted to report the clinical findings of seven ARC syndrome cases in Korean children, focusing especially on renal tubular dysfunction. Methods : The hospital records of 7 cases diagnosed as ARC syndrome at Severance Hospital between Mar. 1995 and Aug. 2005 were reviewed and analyzed. Results : Of the 7 cases, 4 were boys and 3 were girls. Six patients(85$\%$) were born with normal birth weight at term, and one was born at preterm. All cases presented with cholestasis and severe jaundice. According to the type of arthrogryposis described by Brown et al, type 3 and 4 were found in 2 patients and type,6, 7, and the undistributed type in one patient respectively. Other associated clinical findings were as follows : failure to thrive in 6(85$\%$), lax skin in 5(71$\%$), and gray platelet syndrome in 4(57$\%$). Urine analysis revealed 6 cases(85$\%$) with proteinuria, 3(43$\%$) with hematuria, 5(71$\%$) with glycosuria, 2(29$\%$) with phosphaturia and 2(29$\%$) with calciuria. Serum electrolytes showed 4 cases(57$\%$) with hyponatremia, 3(43$\%$) with hypokalemia, and 1(14$\%$) with creatinine elevation. Renal tubular dysfunctions were diagnosed as renal tubular acidosis in 6 cases(85$\%$), nephrogenic diabetes insipidus in 2(29$\%$), and Fanconi syndrome in 2(29$\%$). During the follow-up period, 2(29$\%$) had no treatment, 5(85$\%$) had continuous supplementation to correct the electrolyte imbalance and acidosis, and 1(14$\%$) had dialysis. Only one patient had a family history of ARE syndrome in a sibling. Four cases(57$\%$) were diagnosed at the mean age of 8.2 months, and one case was lost during follow-up. Ages of the survived 2 cases were 13 and 25 months, respectively. Conclusion : The rare disease of ARC syndrome Is associated with severe renal dysfunction. However, this study revealed that the renal manifestation of ARC syndrome in Korean children is relatively mild and survival rate is higher than that of previous studies. Contrary to previous reports, this study showed that familial cases are rare and sporadic occurence is possible in Korea. Thus, the diagnosis of this syndrome requires a careful evaluation of the venal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance. (J Korean Soc Pediatr Nephrol 2005;9:222-230)

• Advances in pediatric surgery
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• v.1 no.2
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• pp.149-161
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• 1995

The first national survey on esophageal atresia and tracheoesophageal fistula was conducted to access the current status of its incidence, clinical manifestation, preoperative diagnosis and management, type of its anomaly, associated anomalies, and surgical results and course. The 43 members of the Korea Association of Pediatric Surgeons received questionnaires and registration forms to be filled out on each patient who were born during the three years from January 1, 1992 through December 31, 1994. Questionnaires composed of six broad areas which include 1) preoperative diagnosis and management, 2) surgical technic, 3) long gap, 4) postoperative management, and 5) complications and courses. A total of 148 cases was returned by 28 members working at 23 institutions and 27 members returned questionnaires. We obtained the following results by analysis of the 148 cases of tracheoesophageal anomalies. The incidence of tracheoesophageal anomaly was about 1/10,000-11,000 in 1994, which is one third of that of anorectal malformations in Korea and the distribution of the patients was almost proportionate to the size of each province. Both sexes are about equally affected. Majority of the members make diagnosis of tracheoesophageal anomaly by taking a simple infantogram with a radiopaque tube in upper pouch and a little under half(46%) prefers to perform echocardiography as a part of preoperative management to identify congenital heart disease and lateralize the aorta. Esophageal atresia with distal TEF(87.5%) was by far the most common and there were pure esophageal atresia(5.6%), H-type TEF(2.1%), and so on. About half(49%) of the patients had one or more associated anomalies in addition to tracheoesophageal anomalies. Congenital heart disease was associated in 46 cases(31%), anorectral malfomations in 19 cases(13%), musculoskeletal anomalies in 15 cases(10%), genitourinary anomalies in 10 cases(7%) and gastrointestinal anomalies in 7 cases(5%). Postoperatively, parenteral nutrition and assisted ventilation were given in 66% and 52% of patients respectively. Ninety three(74%) of 126 cases who underwent sugical procedure, experienced one or more complications such as respiratory complication(65%), leak(22%), stricture(21%) and so on. The survival rates related to the Waterston risk categories were 90.2% in group A, 71.4-75% in $B_1$, $B_2$, and $C_1$, groups, and 28% in group $C_2$, and the overall survival rate was 71.4%. Thirty six(28.6%) of 126 cases died of pneumonia/sepsis(12 cases), respiratory failure(12 cases), and congenital heart disease(4 cases). With short term follow-up, 69% of patients have been excellent whereas remainders of the cases have suffered from some sort of morbidity related to gastroesophageal reflux, recurrent respiratory infection, and esophageal stricture.

• Neonatal Medicine
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• v.18 no.2
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• pp.221-227
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• 2011

Purpose: The objectives were to identify the characteristics of neonates with hydrops fetalis, and to identify the risk factors associated with mortality. Methods: A retrospective review of AMC (Asan Medical Center) dataset was performed from January 1990 to June 2009. The characteristics of 71 patients with hydrops fetalis were investigated and they were divided into two groups: the survived group and the expired group. Various perinatal and neonatal factors in two groups were compared to find out risk factors associated with mortality based on univariate analysis, followed by multiple regression analyses (SPSS version 18.0). Results: Of those 71 neonates (average gestational age: 33 weeks, birth weight: 2.6 kg), 38 survived, 33 died, resulting in overall mortality rate of 46.5%. The most common etiology was idiopathic followed by chylothorax, cardiac anomalies, twin-to-twin transfusion, meconium peritonitis, cardiac arrythmias, and congenital infections. Factors that were associated independently with mortality in logistic regression analyses were low 5-minutes Apgar score, hyaline membrane disease and delayed in achieving 50th percentile ideal body weight for appropriate gestational age by 10 days. Conclusion: In this study, 5-minutes Apgar score, hyaline membrane disease and delayed in achieving 50th percentile ideal body weight for appropriate gestational age by 10 days were significant risk factors associated with mortality in hydrops fetalis. Therefore, the risk of death among neonates with hydrops fetalis depends on the illness immediately after birth and severity of hydrops fetalis. Informations from this study may prove useful in prediction of prognosis to neonates with hydrops fetalis.