Neurological Outcome of Patients with Late-onset Ornithine Transcarbamylase Deficiency

장경미,황수경,Jang, Kyung Mi,Hwang, Su-Kyeong The Korea Society of Inherited Metabolic Disease 2022 대한유전성대사질환학회지 Vol.22 No.1

The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.

친환경 양식용 배합사료 개발 착수

장경미,Jang, Gyeong-Mi 한국단미사료협회 2003 사료산업 Vol.2 No.-

APTEOS 하이브리드 멤브레인에서 PEG가 기체투과 특성에 미치는 영향

장경미 ( Kyoungmi Jang ),김현준 ( Hyunjoon Kim ) 한국화학공학회 2007 화학공학의이론과응용 Vol.10 No.1

네트워크 분석을 활용한 한국어 발음 교육 연구 동향 연구

장경미 ( Jang Kyungmi ) 이중언어학회 2017 이중언어학 Vol.67 No.-

Understanding research trends is a good way to keep up with research needs. Most of the researches on research trends in the area of Korean pronunciation education tend to have been conducted in a traditional way depending on the researcher`s subjective criteria. A network approach makes it possible to uncover recent trends in an objective way with a new perspective based on the network relations by analyzing words appearing in the titles of scholarly articles. To uncover the recent trends in the area of Korean pronunciation education research, 357 articles on Korean pronunciation education research were collected and 2,778 keywords were extracted for a frequency analysis and a co-word analysis. Their relationships were then analyzed by the algorithms of Pathfinder Networks (PFNets) and Parallel Nearest Neighbor Clustering (PNNC), the results were visualized by NodeXL. The patterns and clusters on the network provided a broad understanding of how research areas have evolved over time and emerging research areas. (Seoul National University)

숲 체험활동 프로그램이 유아의 인성 및 정서능력에 미치는 효과

장경미(Jang, Kyung-Mee),백지숙(Baik, Jee-Sook) 한국영유아보육학회 2019 한국영유아보육학 Vol.0 No.119

본 연구는 숲에서 자연과 함께 오감을 활용하는 유아 숲 체험활동 프로그램을 개발하고 적용하여 숲 체험활동이 유아의 인성과 정서 능력에 미치는 효과를 알아보는데 목적을 두었다. 이를 위해 전라남도 소재 유아교육기관 2곳의 만 5세 유아 30명을 연구대상으로 선정하였으며, 실험집단은 유아 숲 체험활동을, 비교집단은 교육기관 내에서 놀이 활동 프로그램으로 진행되었다. 수집된 자료를 근거로 유아 인성과 정서능력의 측정시기별 평균과 표준편차를 산출하였으며, 유아 숲 체험활동 프로그램이 유아 인성과 정서능력에 미치는 영향력을 알아보기 위해 반복측정 다변량분석을 실시하였으며, 각 척도의 하위요인에 미치는 영향력을 알아보기 위해 반복측정 분석을 실시하였다. 연구결과 유아 숲 체험활동 프로그램이 유아의 인성과 정서능력을 향상시키는데 효과적으로 나타났다. 상업화된 프로그램이 아닌 숲에서 유아 스스로 자유롭게 활동할 수 있는 숲 체험활동에 대한 다양한 후속연구가 필요하다고 보인다. The main purpose of the study is to develop and examine the effects of a forest experience activity program on five-year-old preschoolers’ emotional competence and personality. 15 preschoolers from J childcare center participated as the experimental group while 15 preschoolers from M childcare center participated as the control group. A total of 16 sessions were held twice a week from May 1, 2018 to June 30, 2018. In order to measure the effectiveness of the forest experience activity program, emotional competence and personality data were collected before and after the forest experience activity program. Repeated measures MANOVA and repeated measures ANOVA were used for statistical analyses. Cronbach’s alpha was computed for the reliability of the scales. SPSSWIN 23.0 was used for data analysis. The results are as follows. First, the forest experience activity program was proven effective for the increase of preschoolers’ personality. Second, the forest experience activity program was proven effective for the increase of preschoolers’ emotional competence.

조현형 인격 성향을 가진 대학생의 P300 국소화 분석

장경미(Kyoung-Mi Jang),김보미(Bo-Mi Kim),나은찬(Eun-Chan Na),안은지(Eun-Ji An),김명선(Myung-Sun Kim) 한국인지과학회 2017 인지과학 Vol.28 No.1

본 연구는 청각 oddball 방안, 사건관련전위와 sLORETA를 사용하여 조현형 인격 성향을 가지는 대학생의 P300 신호원을 조사하였다. 또한 P300 신호원의 전류밀도와 조현병 증상간의 관계를 조사하였다. Schizotypal personality questionnaire(SPQ)의 점수에 근거하여 조현형 인격성향군(n=37)과 정상통제군(n=42)을 선정하였다. P300은 자주 제시되는 표준 자극(1000Hz)과 드물게 제시되는 목표 자극(1500Hz)으로 구성되는 청각 oddball 과제를 사용하여 측정하였으며, 참여자들은 목표 자극이 몇 번 제시되었는지 횟수를 세어 실험 후 보고하는 것이 요구되었다. 행동분석 결과, Oddball 과제의 정확률에서는 두 집단 간 유의한 차이가 관찰되지 않았다. 사건관련전위를 분석한 결과, 조현형 인격성향군이 정상통제군에 비해 유의하게 감소된 P300 진폭을보였다. P300의 신호원을 추정하기 위하여 sLORETA를 사용하여 분석한 결과, 두 집단 모두에서 좌우반구전두엽, 두정엽, 측두엽, 후두엽에 분포되어 관찰되었다. 두 집단의 P300 신호원의 전류밀도를 비교한 결과, 조현형 인격성향군이 정상통제군에 비해 좌반구 상측두회와 우반구 중측두회에서 감소된 활성화를 보인 반면 좌반구 하전두회와 우반구 상전두회에서는 활성화 증가를 보였다. 이에 덧붙여, 조현형 인격성향군에서 우반구 상전두회의 전류밀도와 SPQ의 와해 점수 사이에 부적 상관이 관찰되었다. 이러한 결과는 P300 신호원인 전두 및 측두 영역의 이상을 조현병 환자뿐만 아니라 경미한 증상을 가지고 있는 조현형 인격성향군도 가지고 있음을 시사한다. 이에 덧붙여 본 연구 결과는 조현병 고위험군의 선별에 사용되는 SPQ의 경우 총점보다는 와해 점수가 고위험군의 선별에 더 유용하게 사용될 수 있음을 시사한다. This study investigated the cortical generators of P300 in college students with schizotypal traits by using an auditory oddball paradigm, event-related potentials (ERPs) and standardized low resolution brain electromagnetic tomography (sLORETA) model. We also investigated the relationship between the current density of P300 and the clinical symptoms of schizophrenia. Based on the scores of Schizotypal Personality Questionnaire(SPQ), schizotypal trait (n=37) and control (n=42) groups were selected. For the measurement of P300, an auditory oddball paradigm, in which frequent standard tones (1000Hz) and rare target tones (1500Hz) were presented randomly, was used. Participants were required to count the number of the target tones during the task and report this at the end of the experiment. The two groups did not differ significantly in the accuracy of the oddball task. The schizotypal trait group showed significantly smaller P300 amplitudes than control group. In terms of source localization, both groups showed the P300 current density over bilateral frontal, parietal, temporal and occipital lobes. However, the schizotypal trait group showed significantly reduced activations in the left superior temporal gyrus and the right middle temporal gyrus, but increased activations in both left inferior frontal gyrus and right superior frontal gyrus compared to the control group. Furthermore, a negative correlation between the current density of the right superior frontal gyrus and SPQ disorganization score was found in the schizotypal trait group. These findings indicate that the individuals with schizotypal traits have dysfunctions of frontal and temporal areas, which are known to be the source of P300, as observed in patients with schizophrenia. In addition, the present results indicate that the disorganization score, rather than total score, of the SPQ is useful in predicting the risk of future schizophrenia.

Hyperornithinemia-hyperammonemia-homocitrullinuria 증후군을 유발하는 SLC25A15 유전자의 새로운 변이

장경미(Kyung Mi Jang),현명철(Myung Chul Hyun),황수경(Su-Kyeong Hwang) 대한소아신경학회 2017 대한소아신경학회지 Vol.25 No.3

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) is a neurometabolic disorder with highly variable clinical severity ranging from mild learning disability to severe encephalopathy. Diagnosis of HHH syndrome can easily be delayed or misdiagnosed due to insidious symptoms and incomplete biochemical findings, in that case, genetic testing should be considered to confirm the diagnosis. HHH syndrome is caused by biallelic mutations of SLC25A15, which is involved in the urea cycle and the ornithine transport into mitochondria. Here we report a boy with spastic paraplegia and asymptomatic younger sister who have compound heterozygous mutations of c.535C>T (p.R179*) and c.116C>A (p.T39K) in the SLC25A15 gene. We identified that p.T39K mutation is a novel pathogenic mutation causing HHH syndrome and that p.R179*, which is prevalent in Japanese and Middle Eastern heritage, is also found in the Korean population.

소아 신장이식 환자에서 연령 및 성별에 따른 타크롤리 무스의 약동학적 차이에 관한 단일기관 연구

최재영,장경미,황영주,최봉석,박종광,윤영란,김찬덕,조민현,Choe, Jae Young,Jang, Kyung Mi,Hwang, Young Ju,Choi, Bong Seok,Park, Jong Kwang,Yoon, Young Ran,Kim, Chan Duck,Cho, Min Hyun 대한소아신장학회 2014 Childhood kidney diseases Vol.18 No.1

목적: 소아 신장 이식 환자에서 흔히 사용되는 면역 억제제 타크롤리무스는 성별, 연령별, 인종별로 다양한 약동학적 특성이 있음이 알려져 있다. 본 연구는 우리나라 소아신장 이식 환자가 가지는 타크롤리무스의 약동학적 특징을 파악하고 관련되는 인자를 알아보기 위해 시행되었다. 방법: 경북대병원 소아청소년과에서 신장 이식을 시행받고 초기 면역 억제치료로 타크롤리무스가 사용된 환자 9명을 대상으로, 사용된 약 용량과 혈중 최저 농도 등을 후향적으로 조사하였고 이들의 약동학적 특성을 성인 대조군과 비교하였다. 결과: 남아의 평균 약 용량은 여아에 비해 유의하게 높았으나 혈중 최저 농도는 두 군 간에 유의한 차이가 없었고 청소율 또한 남아에서 유의하게 높았다. 12세 이상의 평균 약 용량은 12세 미만에 비해 낮았고 혈중 최저 농도는 높은 경향을 보였으나 유의한 차이는 없었다. 성인은 12세 이상, 미만 모두의 경우 보다 유의하게 약 용량이 적었으나 혈중 최저 농도에서는 유의한 차이가 없었다. 또한, 청소율와 반감기에서도 모두 유의한 차이를 보였다. 결론: 소아 신장 이식에서 사용되는 타크롤리무스는 나이가 어릴수록, 남아의 경우에 좀 더 많은 용량을 투여해야 할 가능성이 있음을 확인할 수 있었다. 우리나라 소아 신장 이식 환자에서 타크롤리무스의 적절한 치료용량을 확인하기 위해서는 이상의 관련인자에 대한 추가적인 전향적인 연구가 필요하다고 사료 된다. Purpose: The pharmacokinetics of tacrolimus, one of the most widely used immunosuppressive drugs, are known to vary by sex, age, and ethnicity during pediatric transplantation. This study assessed the pharmacokinetic characteristics and associated factors of tacrolimus in Korean children receiving a kidney transplant. Methods: We retrospectively reviewed the pharmacokinetic data (therapeutic dose, trough level, clearance, and half-life) of 9 children who were given tacrolimus as one of their initial immunosuppressive drugs after kidney transplantation. In addition, we compared the findings to data from 10 adult kidney transplant recipients. Results: The mean age of our pediatric patients was 13.9 years, and the maleto- female ratio was 4:5. The mean dose of tacrolimus was $0.19{\pm}0.14$ mg/kg/day. The mean dose of tacrolimus for males was $0.23{\pm}0.12$ mg/kg/day, which was significantly higher than the dose for females ($0.16{\pm}0.14$ mg/kg/day). The trough level was not significantly different between both groups. The clearance rate of tacrolimus for males was also significantly higher than females. Although the dosage of tacrolimus for patients over the age of 12 years was lower ($0.18{\pm}0.13$ vs. $0.21{\pm}0.16$ mg/kg/day) and the trough level was higher ($8.2{\pm}4.5$ vs. $7.2{\pm}4.2$ mg/mL) than that for patients under the age of 12 years, there was no significant difference between them. However, there were significant differences between children and adults in dose, clearance, and half-life of tacrolimus. Conclusion: Out study suggests that the pharmacokinetics of tacrolimus tends to vary with sex and age. Therefore, large-scale prospective studies are required to verify the proper therapeutic dosage of tacrolimus in Korean children.

P형 열전분말의 수소환원처리가 상온열전특성에 미치는 영향

김경태,장경미,하국현,Kim, Kyung-Tae,Jang, Kyeong-Mi,Ha, Gook-Hyun 한국분말야금학회 2010 한국분말재료학회지 (KPMI) Vol.17 No.2

Bismuth-telluride based $(Bi_{0.2}Sb_{0.8})_2Te_3$ thermoelectric powders were fabricated by two-step planetary milling process which produces bimodal size distribution ranging $400\;nm\;{\sim}\;2\;{\mu}m$. The powders were reduced in hydrogen atmosphere to minimize oxygen contents which cause degradation of thermoelectric performance by decreasing electrical conductivity. Oxygen contents were decreased from 0.48% to 0.25% by the reduction process. In this study, both the as-synthesized and the reduced powders were consolidated by the spark plasma sintering process at $350^{\circ}C$ for 10 min at the heating rate of $100^{\circ}C/min$ and then their thermoelectric properties were investigated. The sintered samples using the reduced p-type thermoelectric powders show 15% lower specific electrical resistivity ($0.8\;m{\Omega}{\cdot}cm$) than those of the as-synthesized powders while Seebeck coefficient and thermal conductivity do not change a lot. The results confirmed that ZT value of thermoelectric performance at room temperature was improved by 15% due to high electric conductivity caused by the controlled oxygen contents present at bismuth telluride materials.

탄소나노튜브가 분산된 비스무스 텔루라이드 기지 복합재료의 제조 및 열전특성

김경태,장경미,김경주,하국현,Kim, Kyung-Tae,Jang, Kyeong-Mi,Kim, Kyong-Ju,Ha, Gook-Hyun 한국분말야금학회 2010 한국분말재료학회지 (KPMI) Vol.17 No.2

Carbon-nanotube-embedded bismuth telluride (CNT/$Bi_2Te_3$) matrix composites were fabricated by a powder metallurgy process. Composite powders, whereby 5 vol.% of functionalized CNTs were homogeneously mixed with $Bi_2Te_3$ alloying powders, were successfully synthesized by using high-energy ball milling process. The powders were consolidated into bulk CNT/$Bi_2Te_3$ composites by spark plasma sintering process at $350^{\circ}C$ for 10 min. The fabricated composites showed the uniform mixing and homogeneous dispersion of CNTs in the $Bi_2Te_3$ matrix. Seebeck coefficient of CNT/$Bi_2Te_3$ composites reveals that the composite has n-type semiconducting characteristics with values ranging $-55\;{\mu}V/K$ to $-95\;{\mu}V/K$ with increasing temperature. Furthermore, the significant reduction in thermal conductivity has been clearly observed in the composites. The results showed that CNT addition to thermoelectric materials could be useful method to obtain high thermoelectric performance.