• Journal of Chest Surgery
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• v.40 no.11
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• pp.777-781
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• 2007

Pulmonary artery sling is a rare congenital condition in which the left pulmonary artery arises from the right pulmonary artery forming a sling around the trachea. This causes tracheal compression with the resulting respiratory symptoms. Most cases are associated with cardiovascular and tracheobronchial abnormalities. Some cases present incidentally without respiratory symptoms in adolescents and adults. We report a case with double left aberrant pulmonary artery associated with multiorgan anomalies which was incidentally found.

• 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.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1983.05a
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• pp.19.3-19
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• 1983

Congenital stapes fixation may develop alone or with other systemic anomalis. Acquired stapes fixation is found in otosclerosis or in chronic otitis media. It is our intent to review 4 cases (5ears) of congenital stapedial fixation and 2 cases (2 ears) of acquired stapedial fixation following chronic otitis media, treated by stapedectomy.

• Archives of Craniofacial Surgery
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• v.9 no.2
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• pp.90-92
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• 2008

Purpose: Congenital upper eyelid defect is rare anomaly whether it is compared with syndromic anomaly or not. It has many clinical manifestation in the extent, location. Many operation procedures such as simple closure, semicircular rotation flap, Cutler Beard procedure, lower lid rotation flap, etc can be used to reconstruct eyelid defects. We intend to introduce a simple, congenital eyelid defect which was not compared with syndromical anomaly, ophthalmic complication. Methods: Our experience is a case of 19 years old female who had a upper eyelid coloboma without any other anomalies. we could not find any skeletal deformity in orbital CT scan. she had no ophthalmic problem. we reconstructed the defect with bilateral marginal flap after deepithelization of supramarginal area and tarsal reposition. Results: There were no visible deformity of lid lining. postoperative scar was favorable. satisfactory results were obtained in cosmetic and functional aspects. Conclusion: Upper lid coloboma without other anomalies is rare. we obtained satisfactory outcome as treated this rare case with marginal flap advancement.

• Neonatal Medicine
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• v.18 no.2
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• pp.404-408
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• 2011

Scimitar syndrome (SS) is a rare congenital anomaly characterized by hypoplasia of the right lung and partially anomalous pulmonary venous drainage to the inferior vena cava. The term scimitar derives from the shadow created by the anomalous pulmonary vein on chest X-ray that closely resembles that of a curved Turkish sword. It rarely presents as an isolated abnormality. Various cardiac and non-cardiac anomalies have been association with SS, such as right lung hypoplasia, dextroposition of the heart, hypoplasia of the right pulmonary artery, systemic arterial blood supply to the right lower lung from the infra-diaphragmatic aorta, and a secundum type of atrial septal defect. However, an imperforate anus has not been reported previously in association with SS. We describe the first case of infantile scimitar syndrome accompanied with an imperforate anus in a newborn who presented with tachypnea and right pulmonary atelectasis.

• Journal of Chest Surgery
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• v.33 no.9
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• pp.748-751
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• 2000

The diffuse form of supravalvar aortic stenosis represents a surgical challenge when the ascending aorta, aortic arch, proximal descending thoracic aorta and arch arteries are involved. It can be treated by a variety of surgical approaches. We report a case of severe diffuse supravalvar aortic stenosis combined with an aortic valve anomaly and occlusion of the right coronary artery ostium in a 14-year-old boy with Williams syndrome. We enlarged the aortic root(Nick's procedure), ascending aorta, aortic arch, proximal descending thoracic aorta, and innominate artery with patches and replaced aortic valve with 19 mm St. Jude valve. Deep hypothermic circulatory arrest and retrograde cerebral perfusion were used during repair of the arch and arch artery.

• Nuclear Medicine and Molecular Imaging
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• v.40 no.6
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• pp.316-321
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• 2006

Purpose: Differential diagnosis between arteriovenous (AVMs) aud non-arteriovenous malformations (nAVMs) is important in patients with congenital vascular malformations, because AVMs can cause hemodynamic alteration and require immediate treatment. We investigated whether transarterial lung perfusion scintigraphy (TLPS) was useful for the diagnosis and post-therapeutic evaluation of AVMs in extremities. Materials and Methods: Fifty-seven patients (M:F=26:31, $21{\pm}13$ yr, 9 upper and 48 lower extremities) suspected of congenital vascular malformations in extremities underwent TLPS using $^{99m}Tc-MAA$ before embolization/sclerotherapy. Dose-corrected shunt fraction (SF) was calculated from time-activity curve of the lung. Final diagnosis of AVMs was determined by angiography. in patients with AVMs, follow-up TLPS was done for post-therapeutic evaluation. Results: Sixteen patients (8 upper and 8 lower extremities) had AVMs, while the remaining 41 had nAVMs (1 upper and 40 lower extremities). The mean SF of AVMs on TLPS was significantly higher than that of nAVMs ($66.4{\pm}25.8%\;vs.\;2.8{\pm}4.3%$), p=0.003). The sensitivity, specificity, and accuracy of TLPS (cut-off of SF = 20.0%) in diagnosis of AVMs before treatment were 93.8% (15/16), 100% (41/41) and 98.2% (56/57), respectively. The follow-up TLPS and angiography for post-therapeutic evaluation showed concordant results in 13 of 16 patients (81.3%) with AVMs. The mean SF of TLPS was significantly decreased after embolization/sclerotherapy ($69.5{\pm}24.0%\;vs.\;41.0{\pm}34.7%$, p=0.01). Conclusion: TLPS provides hemodynamic information of AVMs in extremities semiquantitatively. Furthermore, the results of TLPS showed a high concordance rate with angiographic findings. Therefore, TLPS is useful for the diagnosis and post-therapeutic evaluation of AVMs in extremities.

• Proceedings of the KSMRM Conference
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• 1999.04a
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• pp.81-86
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• 1999

MR은 높은 조직 대조도와 축상, 시상 및 관상면 등의 multiplanar capability의 커다란 장점을 갖고 있어 뇌 신경계질환 진단에 필수적이며, 특히 ionizing radiation이 아니고 요오드계 IV 조영제를 사용하지 않는다는 점이 CT에 비해 더욱 유리하다. 소아에서의 뇌신경계 질환은 선천성 기형이나 대사성 질환이 많은 등 성인과는 다른 질환분포를 보인다. 따라서 성인에서와 같은 protocol을 그대로 적용하였을 때 좋은 질의 영상을 얻기 힘든 경우가 있으며, 연령 또는 질환에 따라 촬영기법도 다양하게 하여야 하므로 routine protocol을 정하지 않고 매 환아 마다 적절한 기법을 선택하고 있다. 또한 움직임을 억제하기 위하여 진정 (sedation)이 필요한 예가 대부분이며 적절한 잠재우기는 좋은 질의 영상을 얻기 위해 필수적이므로 이에 대한 지식을 필요로 한다.

• Journal of Chest Surgery
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• v.28 no.7
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• pp.726-730
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• 1995

Congenital cystic adenomatoid malformation[CCAM of the lung is extremely rare. We have experienced an unusual case of congenital cystic adenomatoid malformation. The patient was 20-year-old male and had chest pain for 10 days. On simple chest x-ray and Thoracic CT scan, there was a large cystic mass surrounded with multiloculated round cysts with air fluid level on the right lower lobe of a lung. Right lower lobectomy was performed and the pathologic result was congenital cystic adenomatoid malformation.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.48-54
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• 2017

Purpose: Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal-recessive disorder characterized by early-onset hypotonia associated with brain malformations in dystroglycanopathy. Although the wide spectrum of congenital muscular dystrophies causes difficulty in diagnosis, correlating the genotype with the clinical phenotype can help diagnose FCMD. Here, we evaluated the correlation of targeted molecular genetic analysis of FKTN gene mutation with the FCMD phenotype. Methods: This study was conducted retrospectively with 9 subjects. Inclusion criteria included clinical symptoms characterized by early-onset hypotonia with magnetic resonance imaging (MRI) featuring brain malformations. FKTN gene-alteration analysis was performed using various FKTN gene-analysis methods, including sequencing. Results: Among the 9 subjects studied, 4 (44.4%) were male and 5 (55.6%) were female. The median age of onset of the first symptom was 3.1 months. The first symptom was a delayed milestone in 6 cases (66.7%). All 9 subjects (100%) presented with early-onset hypotonia and global delayed development. All subjects presented with cortical malformation in their brain MRIs. Of the 9 subjects, 6 subjects had previously undergone muscle biopsy and 4 cases (4/6; 66.7%) showed dystrophic or myopathic features. Pathogenic mutations causing FCMD were identified in 3 cases. Conclusions: In this study, all 3 subjects with FKTN mutations showed important MRI findings (pachygyria and cerebellar dysplasia). These data suggest that patients with characteristic phenotypes who show pachygyria and cerebellar abnormalities in brain MRIs may have a high probability of being diagnosed with FCMD.