• Journal of Veterinary Clinics
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• v.26 no.2
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• pp.123-129
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• 2009

Patent ductus arteriosus(PDA) is an abnormal shunt between the descending aorta and pulmonary artery through the incompletely closed ductus arteriosus and is the most common congenital heart defect in dogs. Recent human genetic studies found that a the gene mutation in transcription factor AP-2 beta(TFAP2B) was responsible for syndromic cases of PDA. Mutations in the TFAP2B gene are associated with certain congenital cardiac defects in humans that include PDA. In this study, we isolated the entire coding exons of canine TFAP2B gene for genetic screening in dogs with PDA. Analysis of the deduced amino acid sequence suggested that the canine TFAP2B are phylogenetically closer to the human TFAP2B(100% identity in amino acid sequence) than mouse and rat. In cTFAP2B gene screening, one single c.936+203G>A base change was found in affected Maltese dogs with PDA. However, further screening found the same base change in one unaffected control dog, suggesting this base change might be polymorphism. No other base changes were found in other dog breeds enrolled in this study. Because the base change was located in the intronic region and found in an unaffected control dog, TFAP2B might not be responsible for familial PDA in Malteses and sporadic cases of other dog breeds, although the gene promoter region should be investigated before reaching to this conclusion. A future study that may take this study further would be to collect more samples and to screen TFAP2B in various breeds of dogs with PDA and other various congenital heart defects.

• Journal of the Korean Society of Radiology
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• v.83 no.4
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• pp.846-860
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• 2022

Persistent left superior vena cava (PLSVC) is a rare congenital, thoracic, and vascular anomaly. Although PLSVCs generally do not have a hemodynamic effect, several types of PLSVC and some cardiac anomalies may manifest with clinical symptoms. The presence of PLSVC can render catheterization via left subclavian access difficult when placing a pacemaker or central venous catheter. As such, recognizing a PLSVC that is typically incidentally discovered can prevent complications such as vascular injury. Differentiating vessels found in a similar location as PLSVC is necessary when performing thoracic vascular procedures. This pictorial essay explains the multi-detector CT findings of a PLSVC, and provides a summary of other blood vessels that require differentiation during thoracic vascular procedures.

• Journal of Chest Surgery
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• v.30 no.12
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• pp.1247-1250
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• 1997

A 13-year-old boy presented with anterior chest wall depression and dyspnea on exertion(NYHA II). He underwent Ravitch operation for pectus excavatum 7 years ago. A preoperative echocardiographic study revealed secundum atrial septal defect. He had no other abnormality of laboratory test, except FVC and FEVI were decreased into 2.03 L(7 %) and 1.82 L(71 %). He underwent repair of secondary anterior chest wall deformity and secundum atrial septal defect. We used unique method, raising sternum at right angle to secure good operative field for open heart surgery. Acute respiratory insufficiency was developed on postoperative day 1. Mechanical ventilation was applied which could be weaned on postoperative day 6 and thereafter hospital course was uneventful without any other sequale. He was discharged on postoperative day 19.

• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1211-1216
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• 2008

Purpose : Diamond-Blackfan anemia (DBA) is a rare heterogeneous genetic disorder of infancy and early childhood. It is characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer. Corticosteroids and red cell transfusions are the mainstays of therapy. We describe our experience of 6 cases of DBA that were encountered over a period of 16 years. Methods : Medical records of 6 patients diagnosed to have DBA and admitted to the Chonnam National University Hospital between 1992 and 2008 were retrospectively reviewed. Results : Three patients were males. The age at diagnosis ranged from 3 to 18 months (median, 5.5 months). Heart defects were observed in 4, polydactyly in 2, and strabismus in 1 patient. The median number of transfusions was 3 (range, 2-8). All patients responded to initial treatment with steroids and had a hemoglobin level ${\geq}9g/dL$ with a median of 12.5 days (range, 7-22 days). Three patients are currently not receiving steroid therapy. A minimum dose of oral prednisolone (<5 mg per day) was required to maintain hemoglobin ${\geq}9mg/dL$ in 3 cases. Red cell transfusion was infrequently required in 1 patient. In the median follow-up of 14 years, there was no development of malignancy. No significant side effects of steroids were found, except for short stature in 2. Conclusion : The majority of DBA patients achieved complete response and under maintenance therapy with low dose of steroids. Close observation is needed to monitor steroid side effects, cardiac function, and development of malignancy. A nation-wide survey is necessary to further characterize this rare disease in Korean children.

• Journal of Chest Surgery
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• v.37 no.10
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• pp.856-860
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• 2004

Interrupted aortic arch with concomitant intracardiac defects is a rare congenital anomaly that has an unfavorable natural course. We report a successful staged operation of interrupted aortic arch with apical muscular ventricular septal defect associating esophageal atresia with tracheoesophageal fistula in a 3-day-old neonate weighing 2.6 kg. We repaired esophageal atresia through the right thoracotomy and subsequently performed extended end-to-end anastomosis of the aortic arch with pulmonary artery banding through the left thoracotomy at same operation. The apical muscular VSD was repaired 87 day after first operation. The patient required multiple additional interventions before closure of the apical muscular ventricular septal defect, such as pyloromyotomy for idiopathic hypertrophic pyloric stenosis, anterior aortopexy for airway obstruction, and balloon aortoplasty for residual coarctation. She is now doing well.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.103-108
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• 2017

Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.

• Journal of Chest Surgery
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• v.36 no.5
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• pp.356-362
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• 2003

Background: Intralobar and extralobar pulmonary sequestrations have been considered as congenital lesions that occur at different stages of embryonic life. However, most cases of intralobar pulmonary sequestration (IPS) seem to have an acquired origin, as they are absent in infants and associated anomalies are relatively, uncommon among them. Material and Method: The cases of 25 patients who were diagnosed as IPS after surgical resection from December, 1985 to July, 2002 were included in this study. The medical records wire retrospectively reviewed and the clinical characteristics were age at operation; gender; symptoms at presentation; presence of congenital anomalies; combined diseases; preoperative studies and diagnosis; location of the lesion; method of surgical resection; origin, size and numbers of aberrant artery; histopathological findings; and postoperative complications. Result: There were 17 (68%) female patients and 8 (32%) male patients, their ages ranged from 1 to 57 and mean value was 23 years old. Though 14 patients (56%) complained of respiratory symptoms such as pneumonia and recurrent respiratory infections, a large number of patients (44%) were asymptomatic or had chest pain only when the lesion was discovered. Only 8 patients (32%) were diagnosed as pulmonary sequestration preoperatively and 8 (32%) were suspected as mediastinal or lung tumor, 5 (20%) were congenital or acquired cystic lung disease, and 4 (16%) were lung abscess or bronchiectasis, respectively. The majority of aberrant arteries (86.4%) confirmed during the operation were originated from thoracic aorta and 2 were thoracic and abdominal aorta, 1 was abdominal aorta, respectively. The younger patients (less than 10 years old) had more other congenital anomalies (30% vs 6.7%) but the proportion of congenital IPS was not significantly different (10% vs 6.7%, p>0.05) compared with elder patients. Histopathologically, almost all lesions showed chronic inflammation, cystic changes and similar pleural adhesions regardless of age. Conclusion: The large portion of the patients with IPS (44%) was clinically asymptomatic or presented non-respiratory symptoms at diagnosis and likely to be diagnosed as mediastinal or lung tumor especially in elder patients. Though the younger patients had more other congenital anomalies, most cases of IPS proved to be acquired lesions in terms of the histopathlogical findings and the proportion of congenital evidences.

• Clinical and Experimental Pediatrics
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• v.48 no.9
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• pp.1016-1018
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• 2005

Young Simpson syndrome is a rare malformation syndrome characterized by congenital hypothyroidism, dysmorphic face, mental retardation, severe postnatal growth retardation, hypotonia and congenital heart abnormalities. In the present study, we report a case of 4-year-old girl with Young Simpson syndrome for the first case in Korea.

• Journal of Chest Surgery
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• v.40 no.11
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• pp.793-797
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• 2007

A communicating bronchopulmonary foregut malformation (CBPFM) is a rare congenital anomaly that is characterized by a fistula between isolated respiratory tissue and the esophagus or stomach, The presence of accessory lung tissue arising from the primitive gastrointestinal tube is a common factor in the development of all forms of bronchopulmonary foregut malformations. Recurrent pneumonia associated with cystic radiographic structures is a characteristic of the condition. Further imaging studies using esophagogram, bronchography, computerized tomography, MRI, and arteriography can help in making a diagnostic evaluation. The treatment is a surgical resection of the involved lung tissue, and fistula closure with a good prognosis. We encountered a case of CBPFM, who presented with an extralobar pulmonary sequestration and bronchogenic cyst communicating with a tubular esophageal duplication that was associated with a complete left pericardial defect.

• Journal of Chest Surgery
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• v.39 no.10 s.267
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• pp.779-781
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• 2006

Left main coronary artery atresia is a very rare congenital coronary anomaly with blind end of left main trunk. The clinical symptoms as syncope, failure to thrive, and myocardial infarction are presented and surgical treatments are required in most cases. We report a case of a 14-months-old girl with left main coronary artery atresia and excel-lent surgical result of 1 year follow-up after coronary artery bypass with left internal thoracic artery.