• Neonatal Medicine
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• v.15 no.2
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• pp.200-206
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• 2008

Human chromosome 9 is characterized by a high degree of morphologic heteromorphisms, including variation in the size of the heterochromatin. We present a case of a de novo short arm addition of chromosome 9, [46, XY, add(9)(p13)], associated with multiple anomalies, including trigonocephaly, upward slant of the palpebral fissures, patent ductus arteriosus, pulmonary hypertension, hypertrophic cardiomyopathy, umbilical hernia, ambiguous genitalia, and sensorineural hearing and visual loss. This mutation affects the pericentric region of the heterochromatin. This patient exhibited a clinically important breakpoint of the heterochromatic region of chromosome 9 short arm and the associated anomalies.

• Clinical and Experimental Pediatrics
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• v.46 no.3
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• pp.291-294
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• 2003

Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate, scoliosis and left foot valgus, but normal brain MRI. Chromosome study from peripheral blood showed 46,XY, r(21)(p11.2q22.1) karyotype. The authors report the first case of ring chromosome 21 in Korea with a review of the literature.

• 대한핵의학회:학술대회논문집
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• 2001.11a
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• pp.42.1-42.1
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• 2001

• Journal of Veterinary Clinics
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• v.23 no.2
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• pp.91-95
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• 2006

Chiari type 1 malformation is a developmental condition characterized by cerebellar herniation and syringohydromyelia in human beings. It has been reported as a common condition in the cavalier King Charles spaniel that is similar to human Chiari type 1 malformations. However, there are few documentations of diagnosed Chiari type 1 like malformation in other breed dogs. Abnormalities compatible with such a malformation were identified by magnetic resonance imaging in 24 dogs with neurologic signs in this study. The dogs were 15 females and 9 males. Their breed were variable, and 6 of the dogs were maltese, 5 were shih-tzu. The dogs had a variety of neurological signs and the severity of cerebellar herniation, syringohydromyelia, intracranial intra-arachnoid cyst or hydrocephalus.

• The Journal of the Korean bone and joint tumor society
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• v.14 no.1
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• pp.56-61
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• 2008

More than half of the reported cases of congenital arteriovenous malformations involve the extremities. However, these are predominantly arteriovenous malformations of soft tissues. There are few studies on intraosseous arteriovenous malformations. The clinical features of vascular malformations are not well defined, but are likely to be extremely diverse. So, it is not easy to diagnose exactly and treat intraosseous arteriovenous malformations. The authors noted intraosseous arteriovenous malformation of tibia in a child and had a good result by the use of ethanol embolization. Therefore we include those results along with the literature review.

• 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.

• Journal of Food Hygiene and Safety
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• v.5 no.4
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• pp.229-236
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• 1990

The effects of ethanol (ET) on the teratogenicity of the fat soluble drug, Vita. min A (VA) were examined in SPF Wistar rats. VA and ET were orally administered with sonde. The drugs were administered for 3 days of day 9-11 of gestation. Four groups were made; G-I control (sesame oil + saline), G-II VA $40{\times}10^{4}$ (I.Ulkg/day), G-III ET 2 (g/kg/day), G-IV $40{\times}10^{4}$ + ET 2. Congenital malformations were found G-II, G-III and G-IV. All fetuses in G-IV combination had malforamtions. Main malformation in G-IV combi. nation were microstomia, disposition of ear, open eyelids brachygnathia and cleft plate. Accordingly it might be demonstrated that the teratogenicity of hypervitaminosis A was pontentiated by concurrent ethanol in rats.

• 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.

• Tuberculosis and Respiratory Diseases
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• v.59 no.6
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• pp.664-669
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• 2005

Objectives : To evaluate the clinical significance of abnormal bronchi originating from the trachea or main bronchi. Methods : 21 patients (male:female ratio, 13:8; mean age, 58.2 years, range 34-77), who were diagnosed with major tracheobronchial anomalies by bronchoscopy from January 2001 to March 2005, were enrolled in this study. The anomalous bronchi consisted of 13 tracheal bronchi and 8 cardiac accessory bronchus. The clinical features, bronchoscopic findings, and outcomes were analyzed retrospectively. Results : Common symptoms, including hemoptysis, cough and dyspnea, resulted from the underlying lung disease regardless of the bronchial anomalies. In this series of 13 tracheal bronchi, 7 cases originated from the trachea within 1cm of the carina (carinal type) and 6 cases originated at a higher level(tracheal type). Most patients had favorable outcome with conservative treatment for the underlying lung disease. Conclusion : Most tracheobronchial anomalies are found incidentally in the process of diagnosing lung disease. The clinical outcome of patients with a bronchial anomaly depends on the underlying lung disease.

• Journal of Power System Engineering
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• v.14 no.2
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• pp.16-21
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• 2010

분사된 연료의 미립화(atomization), 증발(evaporation), 그리고 혼합기형성과정(mixture formation process)이 디젤엔진의 착화 및 연소특성에 영향을 미치기 때문에, 디젤엔진 내에 분사된 연료의 구조해석으로부터 일련의 과정, 즉 고압분사, 분열(breakup), 미립화, 그리고 주위기체의 난류 도입(entrainment)에 관한 연구$^{1-3)}$는 꾸준히 행해져왔다. 본 연구는 증발디젤분무의 구조해석으로부터 디젤충돌분무의 혼합기형성과정을 조사한다. 주위기체의 밀도는 실험변수로서 선택하였고, $5.0kg/m^3$에서 $12.3kg/m^3$까지 변화시켰다. 그리고 소형고속디젤엔진에 있어서 연료분사초기의 상태의 고온 고압 설정이 가능한 정적용기를 사용했다. 주위 온도와 연료분사압력은 각각 700K 및 72MPa로 일정하게 유지했다. 충동증발분무의 액상과 기상의 이미지는 엑시플렉스형광법으로 동시 계측하였다. 실험결과로서 주위기체의 밀도가 높을수록 충돌분무의 선단도 달거리가 주위기체의 항력으로 인하여 감소하였다.