A Long Term Follow Up Two Cases of Lesch-Nyhan Syndrome Pink Diaper

김재영,송웅주,김봉옥,하비리비,김숙자,Jae Young Kim,Wung Joo Song,Bong-Ok Kim,Harvey L. Levy,Sook Za Kim The Korea Society of Inherited Metabolic Disease 2024 대한유전성대사질환학회지 Vol.24 No.1

Lesch-Nyhan syndrome (LNS)은 X-염색체 열성 장애로 퓨린 재활용 효소인 hypoxanthine-guanine phosphoribosyltransferase (HPRT)의 결핍으로 인해 발생하는 선천성 대사질환이다. 임상 증상은 잔여 효소 활성도 및 유전적 돌연변이에 따라 다양하다. 국내에서는 27례의 LNS 사례가 보고되어 있다. 분홍색 기저귀로 방문했던 2례의 환아중에서 잔여 효소가 전혀 없는 LNS로 사망한 1례와 잔여 효소가 부분적으로 존재하는 1례의 11년간 비교 추적 관찰한 결과를 보고한다. 증례 1: 핑크색 기저귀로 병원에 내원하여 반복적인 구내염으로 치료를 받다가 2개월에 경련발작으로 시작하여 심한 단백질 식품 거부, 발달지연, 퇴행이 있어 뇌성마비로 재활치료를 받던 중 만 6세에 LNS로 진단되어 요산치료로 요산은 정상화 되었으나 심한 불면증과 변비가 관찰되었다. 자해 행동과 척추 측만증, 간질 대발작, 심한 경직을 동반하며 몸통 근육긴장 저하, 무도무정위 운동과 운동실조가 진행성으로 심해졌다. 체중이 줄고 심한 영양실조 상태와 콩팥 모양의 요로 결석, 반복적 재발성 폐렴으로 병원 치료를 받다가 11세에 갑자기 사망하였다. 유전자 검사 결과 반접합성 HPRT1 변종(c.151C>T(p.Arg51Ter))이 밝혀졌다. 요산 수치는 10.5 mg/dl(정상 범위: ~3.5-7.9), HPRT 활성도는 0.02 nmol/hr/spot (10-23.8 nmol/hr/spot)이었다. 증례 2: 핑크색 기저귀로 병원에 방문하여 요산이 높아진 것을 알게 되었고 단백질을 거부하는 식사 습관이 있으며 저체중 상태로 성장하였다. 초등학교에 다니는 정상적인 지능을 가지고 있었고 자해 증상은 전혀 관찰되지 않았으며 정기적인 신장 초음파 검사에서 전혀 요로결석 없이 추적관찰 되었다. 유전자 검사상 반접합성 HPRT1 변이체(c.35A>C(p.Asp12Ala))를 가지고 있었으며 요산 수치와 HPRT 활성도는 11 mg/dL, 0.56 nmol/hr/spot이었다. 신생아 시기 이후까지 핑크색 기저귀가 보이며 심한 단백질 거부, 신경학적인 문제, 및 신장 결석을 동반한 경우 LNS에 대한 감별이 필요하다. 의심이 될 경우 혈청 요산 수치, HPRT 효소 활성도, 그리고 분자 생물학적인 검사가 LNS의 예후를 예측하는데 도움이 될 수 있다. Lesch-Nyhan syndrome (LNS) is an Clinical symptoms can range from mild to severe depending on residual enzyme activity and genetic mutations. In Korea, 27 cases of LNS have been reported. We report the results of an 11-year comparative follow-up of two cases of children who visited because of pink diapers, one who died from LNS with no residual enzymes and one case with partial residual enzymes. Case 1: During follow-up, seizures, developmental delay, and regression were observed. The boy experienced insomnia and severe constipation. He exhibited self-mutilating behavior, a grand mal seizure, scoliosis with severe spasticity, truncal hypotonia, choreoathetoid movement, and ataxia. After prolonged emaciation, staghorn calculi, and recurrent pneumonia, the patient died suddenly at the age of 11 years. Genetic testing revealed a hemizygous HPRT1 variant (c.151C>T (p.Arg51Ter)). Uric acid level was 10.5 mg/dL (normal range: ~3.5-7.9) and HPRT activity 0.02 nmol/hr/spot (10-23.8 nmol/hr/spot). Case 2: During follow-up, the patient remained underweight. He has normal intelligence attending primary school. Self-mutilation symptoms were not observed. Regular renal ultrasonography did not reveal urolithiasis. The patient had a hemizygous HPRT1 variant (c.35A>C (p.Asp12Ala)). Uric acid level and HPRT activity were 11 mg/dL and 0.56 nmol/hr/spot. Pink diapers after the neonatal period and severe protein aversion, neurological problems, and kidney stones, differentiation for LNS is necessary. When suspected, serum uric acid levels, HPRT enzyme activity, and molecular biological tests may be helpful in predicting the prognosis of LNS.

전방 십자 인대 손상 환자에서 인대 재건술 후 정상군과의 보행 양상 비교

이광진,변기용,김봉옥,정현태,홍주형 ( Kwang Jin Rhee,Ki Yong Byun,Bong Ok Kim,Hyun Tae Jung,Joo Hyoung Hong ) 대한슬관절학회 1996 대한슬관절학회지 Vol.8 No.2

Patients with anterior cruciate ligament deficiency typically do not have quadriceps muscle activity during stance and this gait pattem has heen termed quadriceps avoidance gait. We performed physical examination and computerized 3-dimensional motion analysis on 7 normal controls and 7 patients who had anterior cruciate ]igament reconstruction by having the patients walking in 3 different walking velocity, I, e, a self- selected walking velocity which the patients felts comfortable, a velocity set a metronome with a frequency of 108 per minute, and a fast velocity (the norrnal controls walk with a frequency of 126 per minute, the patients walle as fast as possible.) All the 7 patients were male and the average age was 32.1 years. The averge follow up duration after operation was 21.0 months. The measured average points by the modified I.arson scoring scale was 83.14 and the results were 1 excellent, 5 good and 1 fair. In all patients, limping was rarely observed and iitlle Jimitation was observed in stepping, squatting and running. All the patients consplained mild discomfort on the knee joint during exercise. There were also no limitation of range of motion on the knee joint. In all patients. On gait analysis using 3-dimensional motion analysis system, exter- nal flexion mornent of the injured knee joint was decreased compare to normal controls and ivas more clccie,ised when the patients walked in a t'aster walking velocity during the, midstance and the loading response phases. However net external fle.xion moment of the knee joints implying the activity of quadriceps euicle was ohserved. In surnmary, gait analysis using 3-dimensional motion analysis system may help us to evaluate the. Present state, objectively and to anticipate the prognosis of the patients who had anterior cruciate ligament reconstruction.

퍼지제어기를 이용한 보행재활로봇의 공압식 조작기 개발

김승호(Seungho Kim),정승호(Seung Ho Jung),류두현(Doo Hyun Ryu),조강희(Kang Hee Jho),김봉옥(Bong Ok Kim) Korean Society for Precision Engineering 2000 한국정밀공학회지 Vol.17 No.12

건강한 아동이 걸을 때에 생리학적 소비지수

이향숙(Lee Hyang Sook),김봉옥(Kim Bong Ok) 한국전문물리치료학회 2002 한국전문물리치료학회지 Vol.9 No.1

Physiological Cost Index(PCI) of walking has been widely used to predict oxygen consumption in health subjects or patients. The purpose of this study was to evaluate the predictability of physiological cost index of walking for the amount of exercise and cardiac function. Walking exercise was conducted in 67 healthy children (age 4-12) with a self-selected comfortable walking speed on the level surface. Walking speed was calculated, and heart rate was measured before and immediately after the walking. PCI was calculated for statistical analysis. The results were as follows; 1) The walking speed tends to increase and PCI of walking tends to decrease with age. There was significant difference in walking heart rate tends to decrease Linear regression equation between walking speed and age was 'Y(walking speed) = 2.124X (age)+48.286'(R2=.337), (p=.00). 3) The walking heart rate tends to decrease with age. Linear regression equation between walking heart rate and age was 'Y (walking heart rate) = 143.346-2.63X(age)' (R2=.3425), (p=.00). 4) The walking heart rate decreased as body surface area (BSA) increased. Linear regression equation between walking heart rate and BSA was 'Y (walking heart rate)=149.830 - 27.115X(BSA)' (R2=.3066),(P=.00). In conclusion, these equations and PCI could be useful to quantify the variation of energy expenditure of children with pathological gait when compared with age-matched healthy children.

결정트리 데이터마이닝을 이용한 족부 임상 진단

김진호(Jin-ho Kim),박인식(In-sik Park),김봉옥(Bong-ok Kim),양윤석(Yoon-seok Yang),원용관(Yonggwan Won),김정자(Jung-ja Kim) 大韓電子工學會 2011 電子工學會論文誌-CI (Computer and Information) Vol.48 No.2

최근 건강에 대한 관심이 고조 되면서 발과 다리에 대한 진단, 치료, 예방의 전반적인 진료를 맡고 있는 족부의학(Podiatry)이 주목받고 있지만 국내 연구는 미비한 실정이다. 또한 임상 데이터 분석에 있어 대부분의 기존 연구들은 기초 통계적인 방법에 근거한 정량분석만을 수행함으로서, 획득된 정보를 임상에 적용 하는데 있어서는 충분한 신뢰성을 보장할 수 없다. 임상데이터 마이닝은 데이터마이닝의 다양한 분석 방법론을 이용하여 의료 현장에서 발생한 임상 데이터를 분석함으로서 전문가의 진단과 치료 과정의 결정에 도움을 주고 있다. 결정트리(Decision Tree) 알고리즘은 분석과정의 설명과 표현성이 좋고, 결과에 대한 해석이 편리하여 임상에서 적용하기가 용이하다. 본 연구에서는 신뢰성 있는 족부 임상 진단 평가를 위해 충남대학교병원 재활의학과 신발클리닉에 내원한 환자 1310명(남자:633명, 여자:677명)의 2620족(foot)을 대상으로 수집된 진료 데이터에 결정트리를 적용하여 22개의 족부 질환 인자에 따르는 15개의 족부 질환을 분류하고 그에 대한 64개의 진단 규칙을 탐사 하였다. 또한 5개의 클래스(영유아, 소아, 청소년, 노인, 전체)로 분류된 각 그룹들로부터 생성된 결정 트리를 통해 각 클래스의 질환 특징과 질환 주요 인자, 클래스 간 상관관계를 비교, 분석하였다. 탐사된 결과는 족부 임상 전문가의 의사결정에 더욱 정성적이고 유용한 선험적 지식을 제공할 것이고, 효과적이고 정확한 진단과 예측을 위한 임상 도구로써 사용될 수 있다. With growing concerns about healthy life recently, although the podiatry which deals with the whole area for diagnosis, treatment of foot and leg, and prevention has been widely interested, research in our country is not active. Also, because most of the previous researches in data analysis performed the quantitative approaches, the reasonable level of reliability for clinical application could not be guaranteed. Clinical data mining utilizes various data mining analysis methods for clinical data, which provides decision support for expert's diagnosis and treatment for the patients. Because the decision tree can provide good explanation and description for the analysis procedure and is easy to interpret the results, it is simple to apply for clinical problems. This study investigate rules of item of diagnosis in disease types for adapting decision tree after collecting diagnosed data patients who are 2620 feet of 1310(males:633, females:677) in shoes clinic (department of rehabilitation medicine, Chungnam National University Hospital). and we classified 15 foot diseases followed factor of 22 foot diseases, which investigated diagnosis of 64 rules. Also, we analyzed and compared correlation relationship of characteristic of disease and factor in types through made decision tree from 5 class types(infants, child, adolescent, adult, total). Investigated results can be used qualitative and useful knowledge for clinical expert`s, also can be used tool for taking effective and accurate diagnosis.

공동주택의 기계설비 및 배관의 부식방지 기법

백춘기(PAEK CHOON-KEE),김봉옥(KIM BONG-OK) 대한설비공학회 1996 대한설비공학회 강연회 및 기타간행물 Vol.- No.-

3차원동작측정에 의한 얼굴 표정의 분석

박재희(Jae Hee Park),이경태(Kyung Tae Lee),김봉옥(Bong Ok Kim),조강희(Kang Hee Cho) 한국정보과학회 1997 한국정보과학회 학술발표논문집 Vol.1997 No.2

편마비 환자에서 Plastic Ankle-Foot Orthosis(AFO)의 사용

김연희,장인수,김봉옥 大韓再活醫學會 1984 Annals of Rehabilitation Medicine Vol.8 No.1

편마비 보행에 대한 기능적 전기자극(FES) 치료 효과 : 3차원 동작분석기를 이용한 보행분석 Gait Analysis with 3 Dimensional Motion Analysis

김봉옥,모정욱,정혜심,김병식 충남대학교 의과대학 지역사회의학연구소 1996 충남의대잡지 Vol.23 No.1

To evaluate the therapeutic effect of FES (Functional Electrical Stimulation) on hemiplegic gait, quantitative gait analysis was performed with computerized three dimensional motion analysis system (ELITE, B. T.S., Milan, Italy) with and without FES. The patient was 26 year old male with right hemiplegia as a result of severe traumatic cerebral contusion in left fronto-temporo-parietal area 7 years ago. The FES unit was consisted of one foot switch, one channel stimulator and one pair of surface electrodes. Active electrode was placed over deep peroneal nerve, 1 cm distally from the right fibular head to selectively stimulate the deep peroneal nerve, and reference electrode was placed 10cm distal from right fibular head between the Tibialis anterior and Peroneus longus. The characteristics of electical stimulation in this study included output current intensity : 1-50 mA, pulse width : 0.15 cosec, stimulation duration : 0-5 sec which was automatically adjusted on gait velocity, frequency : 25 Hz, and on-off triggered by foot switch. After FES for 1 hour per session, 3 sessions a week for 3 months, three dimensional gait analysis was performed with and without stimulation and data were analyzed. The result of three dimensional motion analysis showed that the ankle was dorsiflexed during swing phase and also corrected pathologic motion of other lower extremity joints with one channel FES stimulation on deep peroneal nerve compared to the gait without FES. And one channel FES with surface electrode was easy to handle and did not show significant complications or discomfort to the patient.

상완 신경총 손상의 전기 진단학적 고찰

김봉옥 충남대학교 의과대학 지역사회의학연구소 1989 충남의대잡지 Vol.16 No.2

Clinical and electrodiagnostic findings were analyzed retrospectively in 25 brachial plexus injury patients who underwent electrodiagnoses during the period of one and a half years from March 1, 1988 to August 31, 1989 in the electrodiagnosis laboratory of the Department of Rehabilitation Medicine in Chungnam National University Hospital. Peripheral nerve conduction studies, paravertebral muscle needle electromyography and median nerve somatosensory evoked potential (SSEP) study were included in the eletrodiagnosis of brachial plexus injury. Among 25 patients 22(88%) were male with 16 patients(64%) n their third and fourth decades. Traffic accident was the leading cause of injury followed by industrial accidents and direct trauma. According to the electrodiagnostically determined level of injury, 17 patients had postganglionic lesion, 5 preganglionic and 3 pre & postganglionic lesion. There were 17 whole arm type, 5 Erb’s type, and 3 Klumpke’s type injuries. Among 15 patients who underwent SSEP study, 10 patients showed abnormal N9 and N20 potentials, 4 of whom had normal sensory nerve action potentials.