• 대한소아치과학회지
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• 제32권4호
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• pp.682-686
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• 2005

색소실조증(Incontinentia pigmenti)은 신생아기에 체간과 사지에 소수포가 발생하여 1세경이 되면 수포는 더 이상 생기지 않고 갈색반점이 나타나는 특징을 보이는 아주 드문 질환이다. Bloch-Sulzberger syndrome이라고 불리는 이 질환은 반성 우성 유전질환으로 대부분 여성에게 나타나며, 외배엽, 중배엽 기원 조직들인 눈, 치아, 피부, 손톱, 가슴, 머리카락, 신경계 등에 이상을 동반한다. 본 증례는 유치의 선천적 결손을 주소로 내원한 환아의 문진 중 색소실조증의 사실을 발견하고 검사한 결과, 다수의 유치와 영구치의 선천적 결손과 치아의 형태이상, 상악의 열성장, 치아의 형태이상과 악골 성장의 부조화 등으로 인한 교합불안정을 보이고 있었다. 전신적으로는 망막이상을 보여 수술을 시행한 상태이며, 피부에는 특징적 인 갈색반점을 보였다. 현재 치아결손부의 공간관리와, 심미적, 심리적인 문제의 해결, 그리고 기능의 회복을 위해 가철식 부분의치를 장착해주었으며, 계속적인 관찰을 하고 있다.

• 한국임상수의학회지
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• 제30권2호
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• pp.131-133
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• 2013

9 년령 23 kg의 암컷 진도견이 2개월 동안의 안구 분비물을 주요증상으로 본원에 내원하였다. 초기 안검사에서 좌측 아래 안구 결막 부위에서 크기 2 cm의 길게 돌출 된 종괴를 발견하였다. 다른 안구 및 주위 조직의 이상소견을 확인하기 위해 안구초음파를 실시 하였고 모두 음성으로 판명되었다. 또한 흉 복부에 실시한 X-ray 검사에서도 특이 소견이 관찰되지 않았다. 세포학적 검사에서 다수의 원형세포와 중등도의 호산구 (eosinophils)가 관찰되었다. 종괴는 외과적으로 절제되었고 조직학적 검사를 통해 비만세포종 (mast cell tumor)로 진단되었다. 수술 후 6개월 뒤 실시한 흉복부 X-ray 및 초음파 검사에서 종양의 전이 또는 재발은 관찰되지 않았다.

• 한국임상수의학회지
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• 제40권2호
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• pp.158-163
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• 2023

A 9-year-old spayed female Shih-Tzu was presented with a mass on the upper eyelid of the right eye (OD). The eyelid mass continued to enlarge along the eyelid margin and the eyelid skin. Throughout the follow-up examinations, the mass did not affect the palpebral conjunctiva OD. Until 9 months since the mass was first identified, the dog did not show any clinical signs related to the mass. However, after 11 months, the owner complained of the dog's discomfort on OD and decided on surgical excision of the mass. There were no abnormalities in the complete blood count and serum chemistry profiles. The pentagonal resection was performed to completely remove the mass in the eyelid. There were no suspicious findings of metastasis on whole-body computed tomography scan immediately before the surgery. On histopathology and immunohistochemistry for multiple myeloma oncogene-1, the eyelid mass was diagnosed as extramedullary plasmacytoma (EMP). Surgical margin of the mass was clearly cut. No recurrence was observed during the 5-month follow-up. EMPs on the eyelid have rarely been reported in dogs. Although EMP is a benign tumor, the mass showed invasive growth and grew toward the skin rather than the palpebral conjunctiva. No recurrence occurred when surgically removed with clean margins.

• Clinical Nutrition Research
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• 제12권3호
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• pp.169-176
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• 2023

Glucose transporter type 1 (GLUT1) deficiency syndrome (DS) is a metabolic brain disorder caused by a deficiency resulting from SLC2A1 gene mutation and is characterized by abnormal brain metabolism and associated metabolic encephalopathy. Reduced glucose supply to the brain leads to brain damage, resulting in delayed neurodevelopment in infancy and symptoms such as eye abnormalities, microcephaly, ataxia, and rigidity. Treatment options for GLUT1 DS include ketogenic diet (KD), pharmacotherapy, and rehabilitation therapy. Of these, KD is an essential and the most important treatment method as it promotes brain neurodevelopment by generating ketone bodies to produce energy. This case is a focused study on intensive KD nutritional intervention for an infant diagnosed with GLUT1 DS at Gangnam Severance Hospital from May 2022 to January 2023. During the initial hospitalization, nutritional intervention was performed to address poor intake via the use of concentrated formula and an attempt was made to introduce complementary feeding. After the second hospitalization and diagnosis of GLUT1 DS, positive effects on the infant's growth and development, nutritional status, and seizure control were achieved with minimal side effects by implementing KD nutritional intervention and adjusting the type and dosage of anticonvulsant medications. In conclusion, for patients with GLUT1 DS, it is important to implement a KD with an appropriate ratio of ketogenic to nonketogenic components to supply adequate energy. Furthermore, individualized and intensive nutritional management is necessary to improve growth, development, and nutritional status.

• Clinical and Experimental Pediatrics
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• 제52권4호
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• pp.471-475
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• 2009

목 적 : 사립체 질환은 여러 가지 장기의 증상을 나타내는 에너지 대사 질환으로, 뇌병증과 더불어 안과적 증상도 다양한 형태로 표현된다. 본 연구에서는 시신경에서 후두부의 뇌피질에 이르는 신경계를 평가하는 시각전위유발 검사를 사립체 질환 환아에서 시행하여 그 유용성과 가치를 분석하고자 하였다. 방 법 : 근육 조직을 이용한 분광광도 검사법에서 사립체 호흡 연쇄 복합체 I 결함으로 확진된 환아 19명을 대상으로 섬광자극 시각 유발전위검사를 시행하여, 그 결과를 정상 반응군(I), 잠복기 지연군(II), 비정상 파형군(III), 무반응 이상군(IV)으로 나누어 판정하였으며, 환아들의 임상양상과 비교하였다. 결 과 : 전체 19명 중 시각전위 유발검사에서 이상소견을 보인 환아는 14명이었고, 무반응 이상군(IV)이 6명, 비정상 파형군(III)이 6명, 잠복기 지연군(II)이 2명 관찰되었다. 망막과 시신경 검사를 포함한 안과 검진에서 이상 소견을 보인 환아는 7명이었으며, 망막 색소 침착이 3명, 시신경 위축 3명, 사시 3명, 안구진탕 1명, 시력 소실이 1명에서 나타났다. 안과 검진에서 이상 소견을 보인 7명은 모두 시각 유발전위검사에서 이상 소견을 나타내었으며, 안과 검진에서 정상 소견을 보인 12명 중에서도 7명이 시각전위유발 검사에서 이상 소견을 나타내었다. 결 론 : 시각 유발전위검사는 안과 증상을 포함하여 다양한 중추신경계 관련 증상이 동반되는 사립체 질환에서 유용한 선별 검사이다.

• Archives of Plastic Surgery
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• 제34권5호
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• pp.663-666
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• 2007

Purpose: Autologous fat injection into the facial area is a frequently used technique in aesthetic plastic surgery for augmentation of the soft tissue. Fat injection is a very safe procedure because of the advantage of being autologous tissue. Minimal foreign body reaction or infections are noted after fat injection. However, there may be some complications including those as severe as blindness. There have been some case reports on visual disturbances after autologous fat injection reported in the literature. Methods: A 21-year-old female patient underwent autologous fat injection into left eyebrow area to correct depression of soft tissue. Immediately after injection of autologous fat, she complained sudden visual loss on the left eye. She had come to our emergency room and ophthalmologic evaluation showed that the patient could only recognize hand motion. There was no abnormality of the optic nerve on magnetic resonance imaging. Suspecting an ischemic optic neuritis from fat embolism of the central retinal artery, the patient was treated conservatively with occular massage, antiglaucomatic agent, anti-inflammatory drugs and antibiotics. Visual field examination showed visual defect of half the lower hemisphere. Results: While maintaining antiglaucomatic agents and non steroidal anti inflammatory drugs, fundoscopic examination showed no abnormalities on the second day of admission. Visual field examination showed an improvement on the fourth day along with decreased eyeball pain. Significant improvement of vision was noted and the patient was discharged on the fifth day of admission. The patient was followed-up 2 days afterwards with improved vision and visual field defect. Conclusion: We describe an unusual case of sudden unilateral visual disturbance following autologous fat injection into periorbital area.

• 대한유전성대사질환학회지
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• 제20권1호
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• pp.29-35
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• 2020

쥬버트 증후군(JS, Joubert syndrome)은 대부분 상염색체 열성으로 유전되는 유전성 대사질환으로 임상증상은 신생아 시기부터 발현된다. 저자들은 신생아기부터 특징적인 임상 증상이 순차적으로 발현되어 임상적으로 JS를 의심하였으나 특징적인 뇌 MRI 소견인 molar tooth sign (MTS)이 늦게 나타난 후 전장엑솜분석(WES, whole exome sequencing)으로 확진 된, 말기 신부전을 동반한 JS 1례를 경험하였기에 보고하고자 한다. 14세 남자 환자는 출생 직후 반복적인 무호흡과 과호흡으로 치료받은 병력이 있으며, 생후 8개월때부터 전반적 발달 지연과 관련되어 처음 병원을 방문하여 기본적인 발달 지연에 관한 검사를 시행하였으나 특이 소견 없었고, 이후 15개월 때 근육생검을 포함한 여러 검사를 통해 사립체(mitochondrial) 질환으로 진단 되었었다. 이후 물리 치료만 하며 관찰 하던 중 안구진탕과 망막질환이 확인되었다. 생후 7세 8개월에는 처음 발작이 있었으며, 말기 신부전이 있어 8세부터 혈액투석을 시작한 후, 혈액 투석 직후 수차례 발작이 있었으나 전해질 불균형으로 인한 발작으로 진단하여 항뇌전증 약물 치료는 하지 않았다. 9세 4개월 때 고혈압으로 인한 뇌출혈로 치료 받았으며, 이때 시행한 뇌 CT상 MTS가 처음 의심되었다. 13세 10개월에 시행한 뇌 MRI 검사상 MTS가 명확히 확인되었고, 전장엑솜 분석으로 JS의 CEP290 mutation (c.6012-12T>A)이 확인되었다. 환자는 신생아기부터 발현된 특징적인 임상 소견과 말기 신부전 상태, 뇌 CT 또는 MRI소견, 그리고 전장엑솜분석 검사로 JS로 확진하였다. JS는 임상 양상이 다양할 뿐만 아니라 진단에 중요한 MTS 소견이 초기에 보이지 않더라도, 임상적으로 의심된다면 확진을 위해서 전장엑솜분석을 시행하는 것이 필요하다.

• Journal of Korean Neurosurgical Society
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• 제49권6호
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• pp.339-344
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• 2011

Objective : Pituitary apoplexy is one of the most serious life-threatening complications of pituitary adenoma. The purpose of this study is to investigate the visual outcome after early transsphenoidal surgery for the patients with pituitary apoplexy. Methods : We retrospectively reviewed the 31 patients with pituitary apoplexy who were admitted due to acute visual acuity or field impairment and treated by transsphenoidal surgery. Five patients were excluded because of the decreased conscious level. The visual acuity of each individual eye was evaluated by Snellen's chart Visual fields were also checked using automated perimetry. To compare the visual outcome according to the surgical timing, we divided the patients into 2 groups. The first group, 21 of the patients have been undertaken transsphenoidal approach (TSA) within at least 48 hours after admission. The second group included 8 patients who have been undertaken TSA beyond 48 hours. All patients were monitored at least 12 months after surgery. Results : Patients were 21 males and 8 females (M : F=2.6 : 1) with the mean age of 42.4 years. Among the enrolled 29 patients, 26 patients presented with decreased visual acuity and 23 patients revealed the defective visual field respectively. Postoperatively, improvement in the visual acuity was seen in 15 patients (83.3%) who underwent surgery within the first 48 hours of presentation, as compared to those in whom surgery was delayed beyond 48 hours (n=5; 62.5%) (p=0.014). Improvement in the visual field deficits was observed in 15 (88.2%) of patients who had been operated on within the first 48 hours of presentation, as compared to those in whom surgery was delayed beyond 48 hours (n=3; 50.0%) (p=0.037). Conclusion : This study suggests that rapid transsphenoidal surgery is effective to recover the visual impairment in patients with pituitary apoplexy. If there are associated abnormalities of visual acuity or visual fields in patients with hemorrhagic pituitary apoplexy, early neurosurgical intervention within 48 hours should be also required to recover visual impairment.

• Journal of Acupuncture Research
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• 제32권4호
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• pp.77-89
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• 2015

Objectives : To evaluate the safety of multiple-dose intramuscular Shinbaro Pharmacopuncture in male and female Sprague-Dawley(SD) rats over a period of 4 weeks(12 sessions). Methods : In order to test the safety of multiple-dose intramuscular Shinbaro Pharmacopuncture we used 40 healthy male and female 6-week old SD rats(male weight 171.79~196.37 g, female weight 127.93~146.43 g). Shinbaro Pharmacopuncture was administered intramuscularly to male and female SD rats at doses of 4.6 (low dose group, n=10), 9.2 (moderate dose group, n=10), and 18.5 mg/kg(high dose group, n=10), respectively. General symptoms, body weight changes, blood tests, biochemical testing, necropsy, organ weight and histopathogical findings were examined over a 4-week period. Results : 1. No mortalities or adverse effects were caused by the investigational substance were observed during the study period. 2. There was no significant difference in body weight caused by the the investigational substance across all groups. 3. No significant between-group difference was found to be caused by the investigational substance in blood tests and biochemical testing. 4. No abnormalities were detected by a necropsy examination with the unaided eye at the macro level after treatment with the investigational substance. 5. Difference in organ weight between groups caused by the investigational substance was not found. 6. All groups did not exhibit pathological findings caused by the investigational substance in histopathogical examination. Conclusions : According to these results, Shinbaro Pharmacopuncture has no systemic or organ toxicity with multiple-dose intramuscular administrations in male and female SD rats over a 4-week period (12 sessions). These results imply that no adverse effects are observed at a level (NOAEL) of Shinbaro Pharmacopuncture of 18.5 mg/kg.

• 한국임상보건과학회지
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• 제8권1호
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• pp.1362-1368
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• 2020

Purpose. In this study, The change of the accommodation function due to the use of a smartphone was objectively evaluated using an Auto Refractokeratometer and was to investigate the effect of accommodation response and microfluctuations of accommodation on stable fatigue. Methods. Twenty subjects (20 males, 20 females) who had no abnormalities in ophthalmic disease and strabismus, diplopia, suppression, convergence and ocular movement, and corrected visual acuity and unaided visual acuity of 0.8 or more were performed. The average age of the participants is (21.78 ± 1.78) years old. The refractive power of the eye was measured using an Auto Refractokeratometer (Speedy-i K-model, Righton Mfg Co. Tokyo Japan), and the equivalent spherical power was automatically calculated from the measured refractive power. The accommodation response amount was calculated for the accommodation stimulation amount in 8 steps in 0.5D increments from + 0.50D to -3.00D in the calculated equivalent spherical power. The microfluctuations of accommodation in the high frequency region was calculated according to the change in the amount of the accommodation stimulus. At this time, the spectral power of the microfluctuations of accommodation was analyzed by Fast Fourier Transformation (FFT). Results. After using the smartphone, it was found that the accommodation response to accommodation stimulation decreased and the microfluctuations of accommodation increased. Conclusions. It can be said that the use of a smartphone affects the accommodation response and the microfluctuations of accommodation, thereby causing a accommodative stable fatigue. Therefore, it is thought that the use of a smartphone for a long time may bring about a change in the accommodation function.