• 대한생식의학회:학술대회논문집
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• 2005.11a
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• pp.105.1-105.1
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• 2005

• The Journal of the Korean dental association
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• v.40 no.9 s.400
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• pp.667-679
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• 2002

일반 특수신체 정신장애자나 연소연로자의 병약 문제에 대해서는 일단 복지차원으로 국가가 배려하고 있으나 치과분야에서의 절대 무치악자, 선천성 기형 구강암 수술 후의 다량의 조직결손 등의 특수질환자에 대해서는 조명되지 않고 간과돼 온 것이 사실이다. 기술적인 면에서나 경제적인 면에서 일반적인 방법으로는 치료가 불가능한 치과 특수장애자를 위한 특수진료원을 국가가 정책적으로 설립하는 것이 당연하다는 것을 객관화할 수 있는 근거를 본 연구에서는 제시하고 있다. 치협의 학술국 연구사업으로서 국립구강악안면특수장애 수복진료원 설립을 위한 기초자료 조사를 완료하여 지난 4월 보고한 내용을 게재한다.

• Korean Journal of Clinical Laboratory Science
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• v.51 no.2
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• pp.265-269
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• 2019

Ebstein's anomaly is attached to the right ventricle with the tricuspid leaf attached to the lower right ventricle without any attachment to the tricuspid annulus. Most patients in their 20s are alive. Patients older than 25 years of age are similar in the incidence of heart failure and sudden death, and survive approximately 70% from 2 years, and 50% from 3 years, from 5% to over 50 years of age. Through this example, Ebstein's anomaly exists in various forms. A 22 year old case with WPW syndrome and those who survived to 77 years of age are reported. The normal heart structure in the apical four-chamber view should be observed on similar lines, even though the tricuspid annulus is slightly lower than the mitral annulus. If not, there will be some doubt regarding this anomaly. Furthermore, echocardiography plays an important role in the diagnosis and prognosis of congenital heart disease.

• Journal of Chest Surgery
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• v.30 no.1
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• pp.108-111
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• 1997

Congenital unilateral agenesis of pulmonary artery is a rare anomaly and it usually occurs in association with other cardiac anomaly such as tetralogy of Fallot. Since most patients affected by this defect without associated congenital cardiac anomaly or pulmonary Infection are asymptomatic, the clinical diagnosis of this anomal is first recognized by a characteristic pattern in chest roentgenogram taken as a routine checking; the findings on chest film consists of cardiac and mediastinal displacement, absence of the pulmonary arterial shadow, smaller hemithorax, and elevationof the hemidiaphragm, all on the affected side. We experienced rlght pulmonary artery agenesis in a 48 year-old male, who complained of massive hemoptysis, and it was diagnosed by digital subtraction pulmonary arteriogram and perfusin scan, and treated by right middle and lower lobe bi-lobectomy, and we report this case with the review of relevant literatures.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1981.05a
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• pp.40.3-41
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• 1981

The ichthyosiform dermatosis is consisted of a heterogenous group of hereditary disorders. Authors report a case of 26 year old female patient who has congenital ichthyosiform dermatosis associated with sensorineural hearing loss, neovascularization of cornea, partial alopecia and abnormalities of nails and teeth. The audiological findings of this patient were as follows: 1. Bilateral severe sensorineural hearing loss. 2. SISI scores: 100% at 1, 000 Hz and 4, 000 Hz on both ear. 3. Tone decay test: 25 dB decay at 1, 000 Hz and 4, 000 Hz respectively on both ear. 4. SRTs : 85 dB on both ear. 5. Speech discrimination scores : 80% at 95 dB hearing level(MCL) on both ear. With above results, cochlear lesion is suspected in this syndrome.

• Clinical and Experimental Pediatrics
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• v.46 no.6
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• pp.554-560
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• 2003

Purpose : To investigate the teratogenic effect of gamma-ray on the heart of chick embryo. Methods : 50 rad, 100 rad, 150 rad, 200 rad, 250 rad, and 300 rad of gamma-ray were used to irradiate three days old chick embryos. The control group was not irradiated. After three weeks, the embryos were sacrificed and examined for cardiovascular malformation. Results : The survival rate of the gamma-ray irradiated group was significantly lower than that of the control group(33.3-63.3% vs 76.4%, P=0.001). The cardiac malformation rate of the experimental group was 11.0%. In the control group, no congenital cardiac malformations were observed. The experimental groups had a significantly higher malformation rate(P=0.001). The types of malformation were ventricular septal defect, tricuspid atresia, Ebstein anomaly and aortic arch anomaly. In the gamma-ray irradiated group, the cardiac malformations were : 14 small ventricular septal defects (VSDs), five large VSDs, two tricuspid atresias, and one Ebstein anomaly. The higher the dose of radiation applied, the higher the incidence of cardiac malformation was noted. Conclusion : Gamma-ray irradiation of 3 days old chick embryos increased the rate of death and the rate of cardiac malformation significantly.

• 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.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1993.05a
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• pp.108-108
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• 1993

Cystic hygroma is a congenital anomaly of the lymphatic system for which the exact pathogenetic mechanism remains to be elucidated. It is filled with lymphatic fluid and commonly present in the cervical area in either single isolated or multiple form. It is usually innocuous without any pain but may be life-threatening when it is large enough to compromise the airway or interfere with swallowing. Since spontaneous regressions rarely occur, it requires surgical removal. However, this may be rendered difficult in multiple forms and in those with extensive infiltration into the surrounding tissue. This is a presentation of 10 pediatric patients with cystic hygroma who have been successfully treated by sclerotherapy using bleomycin at the authors' department.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.7 no.2
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• pp.179-185
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• 2004

Purpose: Perinatal mortality rates have been used as a summary statistic for evaluating child health and medical status. Neonatal mortality rates have decreased over the past 30 years in Korea. To understand the current status of neonatal surgical gastrointestinal diseases in Daegu Busan area, we have studied about neonatal gastrointestinal diseases with their clinical features, postoperative outcome, and mortality rates. Methods: A clinical analysis on 202 neonates who underwent neonatal surgery from January 1996 to July 2003 at Pusan National University, Kyungpook National University, Youngnam University, and Daegu Catholic University was carried out. Results: The main diseases of surgical conditions were anorectal malformation (23.8%), atresia/stenosis of midgut (13.4%) and pyloric stenosis (13.4%). The male to female ratio was 2.8 : 1. Thirty-five cases (17.0%) had one or more associated anomalies including congenital heart disease, cryptoorchidism, hydronephrosis, and chromosomal anomaly. Twenty cases (10.0%) were diagnosed by antenatal ultrasound. Patients with esophageal atresia had the longest hospitalization for 54.6 days. Postoperative complications occurred in 18 cases (8.9%). The main postoperative complications were wound infection (3.5%) and anastomotic leakage (2.5%). Overall mortality was 5.9%. Diaphragmatic hernia showed the highest mortality rate (37.5%), and esophageal atresia (28.6%) and omphalocele (20.0%) were followed. Conclusion: The current status of neonatal surgical gastrointestinal diseases in Daegu Busan area has improved because the disease categories are various, postoperative complications and mortality rates are decreased.

• 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.