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

• Clinical and Experimental Pediatrics
• /
• v.46 no.6
• /
• pp.554-560
• /
• 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 Genetic Medicine
• /
• v.7 no.2
• /
• pp.151-155
• /
• 2010

Apert syndrome is a rare congenital anomaly characterized by craniofacial malformations and severe symmetrical syndactyly of fingers and toes. This syndrome is caused by a genetic mutation; the S253 mutation is common, though the P253R mutation is not as frequent. Common symptoms include skeletal malformations, poor joint mobility, eye and ear problems, cleft palate, and orthodontic and other dental problems. We report a case of an infant with the common morphological features of Apert syndrome. Interestingly, she was found to have the P253R mutation in FGFR2 exon VIII, which has been less commonly observed in Korea. A brief review of the literature is included.

• Proceedings of the Korea Information Processing Society Conference
• /
• 2002.04b
• /
• pp.1235-1238
• /
• 2002

본 연구에서는 선천적 뇌량의 기형 판별 및 타질환에 의한 뇌량의 형태학적 변화추적을 위한 뇌량의 형태검출 및 측정 시스템을 설계, 구현하였다. 개발 시스템은 대뇌에 대한 자기공명영상의 정중시상단면을 기반으로 간단한 사용자 인터랙션을 통하여 초기 뇌량 영역을 선택하고, 영역확장법과 윤곽선 검출기법을 통하여 뇌량의 형태를 검출하였다. 또한, Witelson의 영역측정 기준에 따라, 뇌량의 영역을 7개의 영역으로 구분하고, 각 구성영역의 크기를 자동 측정함으로써, 뇌량의 형태학적 변화분석이 용이하도록 하였다.

• Journal of Chest Surgery
• /
• v.39 no.3 s.260
• /
• pp.230-235
• /
• 2006

Systemic arterialization of lung with/without sequestration (Sequestration/Anomalous Origin of Left Pulmonary Artery, AOLPA) is a rare form of congenital anomalous systemic arterial supply to the lungs. In this anomaly, the arterial supply of one or more arteries of the basal segments of the lower lobe derives from an aberrant vessel arising from the aorta. We report two adult cases of systemic arterialization of normal basal segments of left lower lobe lung with/without sequestration. The one (AOLPA) was treated by left lower basal segmentectomy and the other (Sequestration) by therapeutic angiographic embolization. Based on the favorable follow-up result in our patients, although lobectomy (segmentectomy) is the basic treatment modality, embolotherapy could also be a mode of treatment that could be selectively applied to elderly, infirm patients or high risk patients with poor pulmonary function.

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

• The Journal of the Korean dental association
• /
• v.21 no.7 s.170
• /
• pp.548-549
• /
• 1983

악안면외과 교정술은 악골, 안면 혹은 구강에 어떤 기형증에 있을때 이를 외과적 처치에 의하여 개선하거나 치료하는 것을 말한다. 악안면, 구강영역에 발생하는 기형증은 여러가지가 있으나 대체로 비대칭성안모, 악골의 전돌증이나 후퇴증, 개교증, 토순, 구강파열 및 선천성안모발육부전증등 여러 가지가 있다. 본인은 지난 83년 2월부터 5월 초순까지 스위스 쥬리히 치대 악안면외과 교실을 방문하여 이곳 교수들과 접하고 의견을 나누었으며, 강연도 듣고, 하여 주기도 하였다. 또한 이곳 병원에서 외과적안모교정술 등 여러 가지 새로운 시술방법등을 견학하면서 새로운 시술방법을 연구한 바 있다. 지면과 시간이 허락되는 범위안에서 앞으로 수회에 나누어서 악안면외과 교정술에 대하여 구체적으로 소개하고저 한다.

• Advances in pediatric surgery
• /
• v.15 no.1
• /
• pp.58-63
• /
• 2009

환아는 4개월부터 직장 탈출증과 심한 변비를 보였으며, 9개월에 질로부터 대변이 배출되는 증상을 나타냈으나 검사상 우측 이상 형성 콩팥 및 이소성 요관 이외 특이 소견이 없어 경과 관찰을 시행하였다. 16개월에 전신 마취하에 이학적 검사를 시행하여 누공을 확인하였고 이를 통한 대장 조영술에서 직장 중복증을 진단하여 수술을 시행하였다. 수술 시야에서 직장부터 횡행 결장에 이르는 관형의 뒤창자 중복을 확인하고, 직장-질 누공을 분리하고 결장 및 직장에는 중격절개술을 시행하였으며, 동반된 기형인 이소성 요관과 무기능 우측 신장은 절제하였다. 환아는 수술 후 3년간 잘 지내고 있다. 직장-질 누공을 동반한 관형의 뒤창자 중복은 매우 드문 선천성 기형으로 저자들의 경험을 문헌 고찰과 함께 보고하는 바이다.

• Journal of Chest Surgery
• /
• v.38 no.9 s.254
• /
• pp.633-636
• /
• 2005

Sixteen-day-old baby with severe Ebstein anomaly underwent emergency operation to relieve progressive hypoxia and congestive heart failure. Operative findings showed huge right atrium and atrialized right ventricle (aRV) with very small functional RV by distal displacemcent of tricuspid valve mechanism. We elected to perform modified Starness operation because biventricular repair was deemed unattainable. After pulmonary and tricuspid valves were primarily closed, aRV was obliterated with multiple sutures from RV apex to the base. Then a PTFE (Gore-Tex, USA) vascular graft was interposed between innominate artery and main pulmonary artery for systemic to pulmonary shunt. The patient was discharged uneventfully, and received bi-directional cavopulmonary shunt 6 months later.

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