• 대한유전성대사질환학회지
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• 제2권1호
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• pp.7-11
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• 2002

저자들은 잘 교정되지 않는 대사성 산혈증을 주소로 내원한 3세된 남아와 원인 모르는 기면과 구토로 5차례 입원했던 과거력을 가진 8세된 남아 형제가 유기산 분석에서 isovalerylglycine의 현저한 증가를 보여 만성 간헐형의 isovaleric acidemia로 진단된 예와 탄뎀질량분석검사에서 isovaleric acidemia로 진단되어 조기치료하고 있는 예를 경험하였기에 보고하는 바이다.

• 대한유전성대사질환학회지
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• 제5권1호
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• pp.9-17
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• 2005

Homocystinuria is a metabolic disorder caused by a deficiency of cystathionine ${\beta}$-synthase (CBS). Patients with homocystinuria show clinical symptoms such as mental retardation, lens dislocation, vascular disease with life-threatening thromboembolisms and skeletal deformities. Generally, the major treatments for CBS deficiency include pharmacologic doses of pyridoxine or dietary restriction of methionine. However, there is no effective treatment for this disease up till today and gene therapy can be an attractive novel approach to treatment of the disease. We investigated whether a recombinant adeno-associated virus could be used as a CBS gene transfer vector to reduce the excessive homocysteine level in the homocystinuria mouse model. Recombinant adeno-associated virus vector encoding the human CBS gene (rAAV-hCBS), driven by EF1-a promoter, was infused into CBS-deficient mice ($CBS^{-/-}$) via intramuscular (IM) and intraperitoneal (IP) injection. IP injection was more efficient than IM injection for prolongation of lives and reduction of plasma homocysteine levels. After 2 weeks of gene transfer by IP injection, serum homocysteine level was significantly decreased in treated mice compared with the age-matched controls and the life span was extended about 1.5 times. Also, increased expression of CBS gene was observed by immunohistochemical staining in livers of treated $CBS^{-/-}$ mice and microvesicular lipid droplets was decreased in cytoplasm of liver. These results demonstrate the possibility and efficacy of gene therapy by AAV gene transfer in homocystinuria mice.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제28권2호
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• pp.136-140
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• 2002

Basal cell nevus syndrome is inherited as an autosomal dominant trait with variable expressivity. This syndrome comprises a number of abnormalities such as multiple nevoid basal cell carcinomas of the skin, skeletal abnormalities as bifid rib and fusion of vertebrae, central nervous system abnormalities as mental retardation, eye abnormalities, and multiple odontogenic kerato cysts. In 1960, Gorlin and Goltz first described the features of this disease as constituting a true syndrome; since then, it has been realized that it is much more complex and encompassing than initially thought. This patient has many symtoms of basal cell nevus syndrome. - we has known multiple jaw cysts through panorama and facial computed tomography. He has hyperchromatism on basal cell through skin biopsy. In ophthalmologic consult, he has blindness on right. On his past medical history, amputation was done on his toes for polyductalism. - So we report with literature reviews

• 대한소아치과학회지
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• 제34권1호
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• pp.150-155
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• 2007

뮤코다당증(Mucopolysaccharidosis, MPS)은 glycosaminoglycans(GAGs)의 분해에 필요한 라이소좀 효소(lysosomal enzymes)의 결함으로 GAGs의 대사 산물이 세포의 라이소좀내에 축적되어 점차 세포와 조직, 기관의 기능 이상을 초래하고 신체 질환과 정신 발달 지연을 가져오는 질환이다. 본 증례는 심각한 치은 증식을 가진 뮤코다당증 환아를 전신 마취 하에 치은 절제술을 시행한 치험례이다. 소아치과 의사는 뮤코다당증 환아의 구강내 증상과 치과 치료시 주의 사항에 대해 숙지해야 하고, 내과의와 연계하여 환아의 전신 상태 변화에 민감하게 대처하여 치과 치료를 시행해야 한다.

• Clinical and Experimental Pediatrics
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• 제45권5호
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• pp.711-715
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• 2002

저자들은 1년 3개월된 남아에서 현재까지 보고된 상기 증상들 이외에 우측 신장의 수신증과 무한증이 동반된 1레를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• 대한장애인치과학회지
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• 제7권2호
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• pp.99-102
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• 2011

A-12year-old boy visited the clinic with chief complaint of anterior maxillary trauma. He was diagnosed with first degree mental retardation and cerebral disorders. By clinical and radiographic examination, intrusion of maxillary central incisors were found. The intrusion was not severe, teeth were luxated with a slight force and the prognosis was followed. After the first year, external root resorption was seen radiographically. Due to difficult behavior management, one visit root canal filling with OrthoMTA(BioMTA, Korea) which is known to generate of cementum and periodontal ligament was planned along with general anesthesia. OrthoMTA was filled from the apex to 1-2mm below cervical area and composite resin used for crown restoration. 6 months after, further resorption, discoloration and mobility was not found. This case is currently checked yearly and further research is needed for inflammatory root resorption and ankylosis.

• 대한치과마취과학회지
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• 제6권2호
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• pp.82-88
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• 2006

Background: The number of patients with disabilities who require general anesthesia for dental treatment is increasing. Methods: We reviewed the cases of 538 patients with disabilities who underwent outpatient general anesthesia for dental treatment at the clinic for the disabled in Seoul national university dental hospital according to the types of disabilities and comprehensive treatments. Results: The patients mean age was 17.4 years and fifty-eight percent of the patients had epilepsy, autism, mental retardation and cerebral palsy. About twenty-five percent of the patients were medically compromised such as brain disease, heart disease and genetic problem. In 142 cases, more than two dentists from the clinical departments systemically co-worked to provide the patients with comprehensive treatment as accurately and quickly as possible under general anesthesia. Conclusions: The number of medically compromised patients was high and the system of comprehensive dental treatment was well run.

• 재활간호학회지
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• 제14권2호
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• pp.95-102
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• 2011

Purpose: The purpose of this study was to analyze intervention studies related to Snoezelen (multisensory environment). Methods: Studies related to Snoezelen (multisensory environment) published between 1995 and 2010 in both Korean and International journals were systematically reviewed, and analyzed following guidelines. Based on inclusion criteria, 23 studies including 5 Korean and 18 International articles were selected. Results: Most studies were conducted in various area of research such as medicine, nursing, and occupational therapy. There was no publication related to Snoezelen (multisensory environment) in Korean nursing journals. In terms of target population, more than 65 % of the study subjects were patients with dementia, mental retardation, and learning disability. Intervention was implemented mostly in less than 30 minutes, once a week for 2 to 4 weeks. The effects on behavior, physical, and psychological contexts were assessed as outcome indicators. There was more 'positive' than 'no effect' in self-stimulatory behaviors, problem behaviors, heart rate, pain, mood state, and anxiety, whereas more 'no effect' than 'positive' in blood pressure, respiration, enjoyment, and relaxation. Conclusion: Future studies are needed to develop the protocol and outcome indicators for effective use of this new intervention in Korea.

• Tuberculosis and Respiratory Diseases
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• 제39권6호
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• pp.542-547
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• 1992

결절성경화증과 동반된 폐임파관평활근종증은 매우 드문 질환으로서 가임기의 여성에게 국한되어 발생한다. 저자들은 결절성경화증이 있던 39세의 여자 환자에게서 반복되는 자연기흉으로 폐조직 생검결과 폐임파관 평활근종증으로 확진된 예와 양측신 혈관근지반종을 동반한 결절성 경화증을 갖은 32세 여자 환자에서 호흡기 증상은 없었으나 흉부 X-선 및 고해상도 흉부 컴퓨터 단층 촬영상 폐임파관 평활근종증을 보였던 예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Journal of Dental Anesthesia and Pain Medicine
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• 제16권3호
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• pp.217-222
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• 2016

Dental treatment is often performed under general anesthesia or sedation when an intellectually disabled patient has a heightened fear of treatment or has difficulty cooperating. When it is impossible to control the patient due to the severity of intellectual disability, conscious sedation is not a viable option, and only deep sedation should be performed. Deep sedation is usually achieved by propofol infusion using the target controlled infusion (TCI) system, with deep sedation being achieved at a slightly lower concentration of propofol in disabled patients. In such cases, anesthesia depth monitoring using EEG, as with a Bispectral Index (BIS) monitor, can enable dental treatment under appropriate sedation depth. In the present case, we performed deep sedation for dental treatment on a 27-year-old female patient with mental retardation and severe dental phobia. During sedation, we used BIS and a newly developed Anesthetic Depth Monitor for Sedation (ADMS$^{TM}$), in addition to electrocardiography, pulse oximetry, blood pressure monitoring, and capnometry for patient safety. Oxygen was administered via nasal prong to prevent hypoxemia during sedation. The BIS and ADMS$^{TM}$ values were maintained at approximately 70, and dental treatment was successfully performed in approximately 30 min.