• Journal of Genetic Medicine
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• 제17권1호
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• pp.34-38
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• 2020

The term dopa-responsive dystonia (DRD) is used to describe a group of neurometabolic disorders, which are characterized by dystonia, and are typically associated with diurnal fluctuations and respond to levodopa treatment. Autosomal dominant DRD (DYT5a, MIM# 128230) is caused by a heterozygous mutation in the GTP cyclohydrolase 1 (GCH1) gene (MIM# 600225). GCH1 encodes an enzyme, which is involved in the biosynthesis of tetrahydrobiopterin, an essential co-factor for tyrosine hydroxylase. Herein, we report the case of a 16-year-old girl who was diagnosed with DYT5a. She exhibited additional unusual clinical features, including intellectual disability, depression, multiple skeletal anomalies, and short stature, which are not commonly observed in patients with DYT5a. The patient harbored a heterozygous missense variant, c.539A>C, p.Gln180Pro, in the GCH1 gene, which was identified by targeted gene panel analysis using next-generation sequencing.

• Macromolecular Research
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• 제15권2호
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• pp.142-146
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• 2007

Poly[(1-(9-carbazoly1)ethylene)-co-(3-cinnamoyloxyoctyl-9-carbazolyl)] ethylene (PVK-Cin) was prepared by tethering cinnamate pendants to a carbazole group via an octylene spacer. The photopatternability of the new PVK based-polymer was investigated using a photocrosslinking reaction under UV light illumination $(\lambda=254nm)$. Blends of the PVK-Cin and a soluble poly(phenylene vinylene) (CzEh-PPV) were employed to study the photocrosslinking behavior. Well resolved lithographic patterns were observed in these polymer systems. PVK-Cin produced a blue light emitting pattern both before and after the photocrosslinking reaction. The blends of PVK-Cin and CzEh-PPV also showed corresponding emissions at 398 and 525 (560) nm in the film state.

• Journal of Korean Neurosurgical Society
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• 제61권2호
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• pp.201-211
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• 2018

Objective : The purpose of this study was to analyze the variability of clopidogrel responses according to duration of a clopidogrel drug regimen after stent-assisted coil embolization (SAC), and to determine the correlation between the variability of clopidogrel responses and thromboembolic or hemorrhagic complications. Methods : A total of 47 patients who underwent SAC procedures to treat unruptured intracranial aneurysms were enrolled in the study. Preoperatively, patients received more than seven days of aspirin (100 mg) and clopidogrel (75 mg), daily. P2Y12 reaction unit (PRU) was checked with the VerifyNow test one day before the procedure (pre-PRU) and one month after the procedure (post-PRU). PRU variability was calculated as the difference between the initial response and the follow-up response. Patients were sorted into two groups based on their response to treatment : responsive and hypo-responsive. Results : PRU variability was significantly greater in the hypo-responsive group when compared to the responsive group (p=0.019). Pre-PRU and serum platelets counts were significantly correlated with PRU variation (p=0.005 and p=0.004, respectively). Although thromboembolic complication had no significant correlated factors, hemorrhagic complication was correlated with pre-PRU (p=0.033). Conclusion : In conclusion, variability of clopidogrel responses during clopidogrel medication was correlated to serum platelet counts and the initial clopidogrel response. Thromboembolic and hemorrhagic complications did not show correlation with the variability of clopidogrel response, or the clopidogrel response after one month of medication; however, hemorrhagic complication was associated with initial clopidogrel response. Therefore, it is recommended to test patients for an initial clopidogrel response only, as further tests would be insignificant.

• 한국자원식물학회지
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• 제30권5호
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• pp.571-577
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• 2017

ABA는 식물에서 비 생물학적 스트레스 내성에 관여하는 중요한 식물 호르몬이다. 애기장대의 group A bZIP 전사인자는 ABA 신호전달 과정에 중요한 역할을 한다고 알려져 있다. 그러나 벼에서는 group A bZIP 전사인자의 기능이 잘 알려져 있지 않다. 따라서 우리는 벼에서 group A bZIP 전사인자인 OsABF3(Oryza sativa ABA responsive element binding factor 3)를 연구하였다. 이를 위해 벼의 다양한 조직과 다양한 스트레스(가뭄, 염분, 저온, ABA, 산화 스트레스)에 따른OsABF3발현 패턴을 분석하였다. 또한 maize의 원형질체에서 GFP fusion 벡터를 사용한 세포 내 위치 분석을 통해 OsABF3가 핵단백질이라는 것을 확인하였다. Yeast one-hybrid 실험을 통해 OsABF3의 C-terminal 부분이 ABREs에 결합한다는 것과 N-terminal 부분이 하위 유전자의 transactivation 하는데 필요하다는 것을 알 수 있었다. 그리고 T-DNA가 삽입된 OsABF3의 homozygous 돌연변이체가 야생형과 과발현체에 비해 발아와 발아 후 단계에서 고농도의 ABA에 대한 민감도가 더 감소한 것을 알 수 있었다. 결과적으로 종합해 볼 때 OsABF3는 ABA의 의존적인 경로를 통해 비 생물학적 스트레스에 반응하는 유전자의 발현을 조절하는 기능을 하는 전사 조절자이다. 또한 OsABF3의 transactivation을 측정하는 실험에 있어서 억제 domain이 존재한다는 결과를 얻었다.

• 생물정신의학
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• 제12권2호
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• pp.98-106
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• 2005

Objectives:Donepezil is a widely used drug for the treatment of patients with Alzheimer's disease(AD). The aim of the present study was to clarify the efficacy and the characteristics of responders to donepezil. Methods:Patients with probable AD(n=80;75.7 years) and small vessel dementia(SVD)(n=18;77.8 years) who received donepezil were retrospectively analyzed using Alzheimer's registry, and three questions were asked:1) Does donepezil therapy improves cognitive symptoms in patients with dementia? 2) If donepezil improves cognitive symptoms, which items of the K-MMSE are improved? 3) What are the characteristics of responder to donepezil medication? Results:1) After donepezil medication, cognitive function measured by the K-MMSE was significantly improved in both types of dementia(AD and SVD), However, statistical differences were not found between these groups. 2) In a clinical trial of donepezil, the patients performed better than before mediation on K-MMSE items assessing orientation, recall, construction, concentration, calculation. 3) In AD, the K-MMSE score before medication was closely related with response of donepezil. Conclusion:This study suggests that donepezil improves various cognitive functions in both types of dementia, and the responsive group had significantly lower K-MMSE scores than the non-responsive group before medication.

• 대한유전성대사질환학회지
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• 제13권2호
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• pp.104-110
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• 2013

Purpose: Phenylketonuria (PKU) is the first inherited metabolic disease of which treatment is known. We performed this study to find out clinical symptoms and prognosis of tetrahydrobiopterin (BH4) responsive PKU patients and genetic relation. Methods: Clinical, biochemical, genetic analysis were done retrospectively in 23 patients diagnosed BH4 responsive PKU in Soonchunhyang University Hospital from March 2000 to September 2012. Results: Patients were classified to mild hyperphenylalaninemia and mild phenylketonuria with initial plasma phenylalanine level below 20 mg/dL. After BH4 loading, blood phenylalanine decrease level ranged between 37% and 99%. Initial treatment with low phenylalanine formula or BH4 was started before 2 month after birth except 2 patients. And one of them resulted in developmental delay in language and social activity. The others showed satisfactory progress without developmental delay. In genetic analysis, of 46 allele, R241C allele mutation was identified most commonly (41%). R241C/A259T, R241C/R243Q, R241C/V388M, R241C/T278I was detected in 5 (21.7%), 3 (13%), 2 (8%), 2 (8%) patients, respectively. Conclusion: R241C mutation was detected most frequently in this study group and R243Q mutation which is known to be prevalent in Korean PKU patients was found in 4 patients (8.6%). Early diagnosis and treatment is important in PKU patients.

• Journal of Preventive Medicine and Public Health
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• 제29권1호
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• pp.103-112
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• 1996

We studied the association of nonspecific bronchial hyperresponsiveness with general characteristics, exposure concentration, respiratory symptoms, chest x-ray findings, past histories and pulmonary function. We determined bronchial hyperresponsiveness by methacholine challenge test. And we conducted a respiratory symptom questionnaire and performed spirometry on 111 workers occupationally exposed to isocyanates in various industries. About 21.6% of subjects had bronchial hyperresponsiveness. No significant differences were observed between the hyperresponsive and non-responsive group with respect to age, sex, employment period, height, and smoking histories. Cough and breathlessness were significantly associated with the bronchial hyperresponsiveness. The hyperresponsive group had more experience of bronchitis and asthma in the past than the non-responsive group. The lower $FEV_1\;and\;FEV_1%$ were closely related with bronchial hyperresponsiveness. Bronchial hyperresponsiveness seems to be associated with some of respiratory symptoms, past histories and pulmonary function parameters in workers exposed to isocyanates.

• The Journal of Asian Finance, Economics and Business
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• 제7권2호
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• pp.43-52
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• 2020

The paper investigates the mechanism through which corporate credit ratings affect dividend payments by decomposing the mean difference of dividends into a part that is explained by the determinants of dividends and a residual part that is contributed by the pure credit group effect, in the framework of the traditional dividend model of Fama and French (2001). Historically, better credit rated firms have shown consistently higher propensity to pay dividends especially during the economic crisis period. According to the counter-factual decomposition technique of Jann (2008), better rated firms are more responsive to the firm characteristics that have positive impact on dividends and poor rated firms are more responsive to the negative dividend predictors. As a result, good (bad) credit ratings make corporate managers become more bold (timid) in their dividend payments and they tend to pay more (less) dividends than what their firm characteristics prescribe. The degree of information asymmetry increases for the poor group firms during crisis periods and they attempt to reserve more cash in preparation for future investments. The decomposition results suggest that the credit group effect can potentially exceed the effect of firm characteristics because firms of different credit ratings can respond to the very same firm characteristics in a different manner.

• The Journal of Asian Finance, Economics and Business
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• 제7권2호
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• pp.33-42
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• 2020

The paper investigates the mechanism through which corporate credit ratings affect dividend payments by decomposing the mean difference of dividends into a part that is explained by the determinants of dividends and a residual part that is contributed by the pure credit group effect, in the framework of the traditional dividend model of Fama and French (2001). Historically, better credit rated firms have shown consistently higher propensity to pay dividends especially during the economic crisis period. According to the counter-factual decomposition technique of Jann (2008), better rated firms are more responsive to the firm characteristics that have positive impact on dividends and poor rated firms are more responsive to the negative dividend predictors. As a result, good (bad) credit ratings make corporate managers become more bold (timid) in their dividend payments and they tend to pay more (less) dividends than what their firm characteristics prescribe. The degree of information asymmetry increases for the poor group firms during crisis periods and they attempt to reserve more cash in preparation for future investments. The decomposition results suggest that the credit group effect can potentially exceed the effect of firm characteristics because firms of different credit ratings can respond to the very same firm characteristics in a different manner.

• 한국초등과학교육학회지:초등과학교육
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• 제36권3호
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• pp.227-245
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• 2017

The purpose of this study was to explore the possibility of implementing 'responsive teaching (RT)' in elementary school science classrooms. A review of relevant literature yielded a tentative framework of RT which consisted of three characteristics of RT and example practices for each characteristic. The RT framework was used to analyze elementary science lessons on the topic of the transpiration in plant leaves. The data sources were audio recordings of three $5^{th}$ grade classrooms which included both the whole-class instruction and student group activities. The data were examined through collaboration between the teacher who had taught the lessons and a university-based science education researcher. It was revealed that the implementation of RT was limited when the teacher's intervention was focused on completing tasks; when it was out of the contexts of student activities; when the teacher provided earlier what students were supposed to find out by themselves; and when the teacher's comments were evaluation-centered. By contrast, the implementation of RT was made highly possible when the teacher's intervention induced an intellectual debate among students; when the teacher negotiated meanings with students; when the teacher connected what students shared to scientific knowledge; and when the teacher prompted students to solve a new problem. Implications about implementing and studying RT were discussed.