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      • KCI등재

        Mutational Analysis of the NF1 Gene in Two Families with Neurofibromatosis 1 Accompanied by Pheochromocytoma

        이현승,김세현,김지훈,배은진,홍선택,박이병,김유진,이시훈 대한내분비학회 2011 Endocrinology and metabolism Vol.26 No.2

        Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant inherited disorders affecting the nervous system. NF1 is associated with mutations in the NF1 gene, which is located on chromosome sub-band 17q11.2 and contains 57 exons spanning approximately 300 kb of genomic DNA. NF1 is caused by a loss of function mutation of the NF1 gene, a tumor suppressor gene, which encodes for neurofibromin, a GTPase-activating protein (GAP) involved in the negative regulation of Ras activity. The GAP-related domain, which is encoded for by exons 20-27a, is one of the most important functional domains in neurofibromin. The cysteine-serine-rich domain has been recognized as an important functional domain in NF1-related pheochromocytomas. As the result of many genetic analyses of NF1-related pheochromocytomas, pheochromocytoma has generally been recognized as a true component of NF1. We recently experienced two families with NF1 accompanied by pheochromocytoma. The proband of family 1 is a 31-year-old female diagnosed with NF1 and pheochromocytoma. Gene analysis of the proband and her sister showed that the mutation of the NF1 gene (c.7907+1G>A) led to the skipping of exon 53 during NF1 mRNA splicing. The proband of family 2 is a 48-year-old male who was diagnosed with the same condition. Gene analysis demonstrated the mutation of the NF1 gene (c.5206-8C>G) with missplicing of exon 37. These novel germline mutations did not fall into the GAP-related nor the cysteine-serine-rich domains, but into the C-terminal area of the NF1 gene. This suggests that the correlation between the genotype and phenotype of NF1-related pheochromocytoma is somewhat difficult to characterize. Further studies will be necessary to confirm the function of the C-terminal area of the NF1 gene and its contribution to the development of NF1 and pheochromocytoma.

      • 福祉社會保障制度 小考 : 福祉國家建設에 際하여 for the accomplishment of Welfare State

        李鉉承 명지대학교 1986 明大論文集 Vol.17 No.-

        Comprehensive social security systems are regarded to be vital to the accomplishment of Welfare State. which is perceived to be our ultimate goal in the progress of human world. In modern society, particulary the majority of the population depend on their current wages for their livelihood. Whenever the breadwinner is unemployed, disabled, or deceased, outside help is necessary to provide economic protection for the family. The vast numbers of unemployed, disabled, and deceased have called public attention in our society. We have two main systems of achieving economic security in this context; a program of public assistance, which is financed by taxation, and program of social insurance financed by contributions of the beneficiary and his employer. The goal of public assistance is to provide minimun economic aid to persons who have no other means of supporting themselves, Social insurance benefits, on the other hand, are not dependent on economic aid, but on the contributions they made earlier. Throughout this paper, the followings are, emphatically, brought into careful studies; conception of social security, social devlopment and social security, cases and practices in advanced welfare nations, and etc. This study of Social Security systems will eventually lead to a fruitful advancement of Korean practises in the context of Social Security benefits for now and future.

      • 브로콜리 추출물의 항산화 유사 물질의 검색

        이현승,박양원 동신대학교 환경연구소 2003 환경연구 Vol.8 No.1

        국내에서 시판되고 있는 브로콜리(brocoli)를 다섯 부분으로 구분한 후, 세 가지 용매를 사용하여 추출한 각 여액의 antioxidant activity는 DPPH에 의한radical scavenging activity spectrum 측정 방법을 이용하였으며, 추출물들의 온도와 pH의 변화에 대한 안정성을 조사하였다. radical scavenging activity는 에탄올 추출물에서 S, L, F, 아세톤 추출물에서는 L, F 그리고 물 추출물은 L에서 활성이 높았다. 온도 변화에 따른 항산화력은 다른 실험군과 비교하였을 때, 에탄올 추출물의 L, F, 5 그리고 아세톤 추출물의 F, 물 추출물의 L에서 두드러진 활성을 보였지만, 물 추출물의 F는 오히려 산화를 일으켰으나 경미했다. pH 변화에 따른 항산화 활성은 전체 실험군이 산성 쪽에서 큰 활성을 보였다. 특히 에탄올 추출물의 5, FS, F, L, p 와 아세톤 추출물의 F에서 다른 실험 군에 비교되는 높은 활성을 보였다. Dot-blot와 DPPH 염색법에 의한 항산화 물질의 검색방법으로 추출물 모두 항산화 활성이 있는 것을 확인하였다. The antioxidant activity of ethanol, acetone and water extracts of brocoli including leaf, flower, flower plus stem, stem, peel and positive control vitamin C, respectivly, were investigated. Each sample under assay condition showed a dose-dependent free radical scavenging effect of DPPH(1,1-diphenyl-2-pricryl hydrazyl radical) by extracted samples, stable of activity remained after treatment in temperature and pH change. A rapid evalution for antioxidants using TLC screening and DPPH staining methods demonstrated each part of the brocoli extracts having various free radical scavenging capacity stained silica layer ravealed a purple background with yellow spot at the location of drops, which showed radical scavenging capacity.

      • SCOPUSKCI등재

        유소아 경증 지속성 천식에서 저용량 서방형 테오필린 건조시럽과 캡슐 제형의 치료 효과 비교

        이현승,이혜경,권희정,김정희,나영호,김진택,김영호,이혜란,편복양,Lee, Hyun Seung,Lee, Hae Kyung,Kwon, Hi Jeong,Kim, Jeong Hee,Rha, Yeong Ho,Kim, Jin Tack,Kim, Young Ho,Lee, Hae Rhan,Pyun, Bok Yang 대한소아청소년과학회 2007 Clinical and Experimental Pediatrics (CEP) Vol.50 No.3

        목 적 : 테오필린은 천식의 치료제로서 부작용을 개선하기 위하여 서방형 제제가 개발 되었고 캡슐 제형과 더불어 유소아에 대한 임상적용의 편의를 위한 건조시럽 제형이 개발 되어 사용되고 있다. 저자들은 두 가지 테오필린 제형들의 효과를 비교하기 위하여 경증의 천식 환자들에게 테오필린 캡슐 제형과 건조시럽 제형을 저용량으로 투여한 후 제형에 따른 효능을 비교 분석하였다. 방 법 : 2005년 10월 1일부터 2006년 3월 31일까지 가톨릭대학교 의정부성모병원, 경희대학교 경희의료원, 인하대학교 병원, 순천향대학교 병원, 한림대학교 강동성심병원 등의 국내 5개 대학병원 소아 알레르기클리닉에 내원하여 경증 천식으로 진단받은 2-6세 사이 환자 90명을 대상으로 12주 동안 서방형 테오필린을 건조시럽 제형 투여군(n=44)과 캡슐 제형 투여군(n=46)으로 나누어 1일 2회, 4 mg/kg/회의 용량으로 경구 투여하였다. 연구자가 임상 시험 시작(0주)과 매 4주째마다 주간 및 야간 천식 증상 개선도를 평가 하였으며, 매 4주째마다 복약 순응도, 약물 복용감, 그리고 종합적인 평가로서 약제의 유용도를 평가하였다. 이중 약제의 유용도는 환자 보호자에게도 스스로 평가할 수 있게 하였다. 4주와 12주째 혈액내 테오필린 농도와 0주와 12주째 혈액내 ECP농도를 측정하였다. 결 과 : 두 군 모두에서 4주와 12주의 혈액내 테오필린 평균 농도는 $5-10{\mu}g/mL$의 치료 농도를 보였으며 4주째부터 임상시험 시작에 비해 천식 증상의 유의한 호전을 보였다. 두 군간 비교에서는 건조시럽 투여군이 캡슐 투여군보다 주간 천식 증상 점수는 4주째부터 야간 천식 증상 점수는 8주째부터 유의하게 낮은 결과를 보였다. 연구자에 의한 약제의 유용도 평가에 있어서도 건조시럽 투여군이 캡슐 투여군보다 유의하게 높은 결과를 보였으며 평가에 있어서 주관성이 강한 환자 보호자에 의한 평가는 연구자에 의한 평가 보다 4주 먼저 건조시럽 투여군이 캡슐 투여군 보다 유의하게 높게 나타났다. 건조시럽 투여군이 캡슐 투여군 보다 약물 복용감과 복약 순응도가 유의하게 높게 나타났으며 호산구에 의한 기도 염증반응 정도를 반영하는 혈액내 ECP농도는 건조시럽 투여군에서만 12주 동안 테오필린 투약 후가 투약전보다 유의하게 감소하였다. 결 론 : 저용량의 서방형 테오필린은 항염증 작용이 있는 안전하고 유용한 천식 치료제로 생각되며 건조 시럽 제형은 캡슐 제형에 비해 장기간 복약 순응도가 높아서 특히 유소아 천식환자들의 임상적용에 많은 장점이 있는 것으로 사료된다. Purpose : Theophylline has recently been reported to have concurrent anti-inflammatory effects at low therapeutic plasma concentrations which are below the doses at which significants, clinically useful bronchodilatation is evident. Sustained-release formulation in capsule and dry syrup forms were developed to reduce its adverse effects and improve its clinical effects. We compared the therapeutic effects of theophylline dry syrup and capsules in children with mild asthma. Methods : Ninety children with mild asthma were randomized to receive either theophylline dry syrup (n=44) or theophylline capsules (n=46); 4 mg per kilogram of body weight, twice a day, for 12 weeks. Baseline and serial measurements of daytime and nighttime asthma symptom score were performed. Compliance scores, drug swallowing scores, and drug usability scores were measured every 4 weeks. Each scoring was rated on a scale of 0-4. Serum theophylline concentration were measured at 4 and at 12 weeks. To examine the anti-inflammatory effect of theophylline on asthma, Serum eosinophilic cationic protein as a marker of airway inflammation caused by eosinophil was measured 12 weeks pre- and post-administration. Results : The daytime and nighttime asthma symptom scores of the two groups after 4 weeks significantly improved over the baseline score. Daytime and nighttime asthma symptom scores in the dry syrup group were statistically lower at all time points except for the nighttime symptom scores at 4 weeks. Compliance scores, drug swallowing scores, and drug usability scores in the dry syrup group were significantly higher at the end time point. Only in the dry syrup group was the serum ECP at the end time point statistically lower than baseline. Conclusion : Low-dose sustained-release theophylline may be safe and effective in bronchial asthma and this effect may be mediated by its anti-inflammatory action mechanisms. Especially, when used in children with asthma, dry syrup formulation is recommended because of its higher compliance than capsule formulation.

      • 行政體系와 人性硏究

        李鉉承 명지대학교 1987 明大論文集 Vol.18 No.-

        In general, the problem of human personality is largely neglected, in one way or another, in the studies of administative system. The reason is that the perception of human personality is varied in each different view point of human psychology and mentality. Depending on the stance of viewing the substance of human personality and attributions, one's view of adcnivistive theory and practice would he quite differently shaped and fashioned. In other words, one's perception of human Personality would eventually lead to either the worse of administrative system, or the betterment of administrative theory and practise. In this context, it will be quite valuable to do as much studies as possible, referring to those valuable ideas of prominent philosophers and administrative theorists. In short, we need to pour more attention into the profound studies of human personality in connection with administrative systems.

      • KCI등재

        Implications of Mitochondrial Unfolded Protein Response and Mitokines: A Perspective on Fatty Liver Diseases

        이현승 대한내분비학회 2019 Endocrinology and metabolism Vol.34 No.1

        The signaling network of the mitochondrial unfolded protein response (UPRmt) and mitohormesis is a retrograde signaling pathwaythrough which mitochondria-to-nucleus communication occurs in organisms. Recently, it has been shown that the UPRmt is closelyassociated with metabolic disorders and conditions involving insulin resistance, such as alcoholic and non-alcoholic fatty liver andfibrotic liver disease. Scientific efforts to understand the UPRmt and mitohormesis, as well as to establish the mitochondrial proteome, have established the importance of mitochondrial quality control in the development and progression of metabolic liver diseases, including non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH). In this review, we integrateand discuss the recent data from the literature on the UPRmt and mitohormesis in metabolic liver diseases, including NAFLD/NASHand fibrosis.

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