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A Korean Case of Infantile Krabbe Disease with a Novel GALC Gene Mutation
Soo-Han Choi(최수한),Jeehun Lee(이지훈),Sanggoo Lee(이상구),Chang-Seok Ki(기창석),Munhyang Lee(이문향) 대한소아신경학회 2009 대한소아신경학회지 Vol.17 No.2
크라베병(Krabbe disease)은 갈락토세레브로시다아제(galactocerebrosidase, GALC) 유전자 돌연변이에 의해 발생하여 상염색체 열성으로 유전되는 매우 드문 퇴행성 신경질환이다. GALC 활성도가 감소함으로써 신경세포 내에 사이코신(psychosine)이 축적되고, 이는 중추신경계와 말초신경계의 수초형성세포의 세포사멸을 초래한다. 전형적인 영아형 크라베병은 생후 6개월 이전에 극도의 보챔, 발달 퇴화, 강직성, 경련 등이 발생하여 2세 이내에 사망하는 것으로 알려져 있다. 저자들은 특징적인 임상양상 및 임상경과와 전형적인 뇌 자기공명영상 소견을 보인 환자에서 유전자 검사를 통하여 영아형 크라베병을 확진하였고, 또한 GALC 유전자의 새로운 돌연변이를 발견하였기에 보고하는 바이다. Krabbe disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the galactocerebrosidase(GALC) gene. The deficiency of GALC activity leads to the accumulation of psychosine, resulting in apoptosis of myelin-forming cells of the central and peripheral nervous system. The patients with typical infantile onset Krabbe disease have extreme irritability, developmental regression, spasticity, and seizures with an onset prior to six months of age. These children usually die within two years after birth. We report a female infant who showed the characteristic clinical manifestations, disease course, and neuroimaging features of infantile onset Krabbe disease that was confirmed by the identification of a compound heterozygous mutation of the GALC gene.
리조트호텔 주방의 물리적 환경 개선노력이 조리사의 직무만족 및 조직몰입에 미치는 영향
최수길(Choi, Soo-Kil) 한국외식산업경영학회 2020 외식산업경영연구 Vol.16 No.1
This study was conducted to examine the effects of efforts to improve the physical environment of a resort hotel kitchen on the job satisfaction and organizational intrusion of a cook and to analyze the work environment, the organizational environment, and human environment, which are the factors. The literature study provided theoretical basis for physical environment, task satisfaction, and organization acquisition based on prior research and related data, and the empirical analysis was performed based on the measurement items of the derived questionnaire. The study examined the relationship between the physical environment of the kitchen and the task satisfaction and the organizational impact of the cook. The analysis shows that the physical environment of the resort hotel kitchen is satisfactory for the job, but if the environment is not continually improved, it is expected that the chef"s job satisfaction and the concentration on the organization will be reduced, which will affect customers. If the physical environment of the resort hotel improves, the job satisfaction and organizational immersion of the chef will be much higher, which will have a positive impact on the company"s performance by enhancing their belonging, pride, pride and love for the organization.
IoT 장치 관리 표준 및 YANG 기반의 관리 정보 설계
최수길 ( Soo-gil Choi ),최미정 ( Mi-jung Choi ) 한국정보처리학회 2015 한국정보처리학회 학술대회논문집 Vol.22 No.1
차세대 성장동력으로 각광받고 있는 사물인터넷은 국제 표준 협의체인 oneM2M 의 주도 아래 표준화가 진행중이다. 사물인터넷은 모든 사물이 연결되는 초연결성이라는 점과 연산 능력, 메모리, 배터리 등에 많은 한계를 갖는 제약 많은 장치가 대상이라는 두가지 큰 특징이 있다. 본 논문에서 는 oneM2M 의 장치 관리 표준에 대해서 설명한다. 또한 사물인터넷의 기술적 이슈를 해결하기 위해 등장한 CoAP 기반의 LWM2M 표준 기술을 소개하고 이를 데이터 모델링 언어인 YANG 기반의 장치관리 정보 설계를 제안한다.
최수신 ( Soo-shin Choi ) 한국산업디자이너협회(한국인더스트리얼디자인학회) 2007 산업디자인학연구 Vol.1 No.1
사무용 가구 전문회사인 주식회사 퍼시스는 디자인 매니지먼트에 기초한 기업 경영, 건전하고 투명한 경영을 기반으로 국내 사무용 가구 시장 최대의 시장 점유율을 보유하고 있으며, 해외에도 자체 브랜드 및 디자인의 제품을 수출해 오고 있다. 퍼시스에서 개발되는 디자인은 단순히 제품의 디자인 자체로서 뿐만 아니라 건전한 기업 문화가 제품의 디자인에 영향을 미치고 있고, 구매자들은 제품의 디자인을 통하여 기업이 가지고 있는 철학을 이해하게 되는 기업-제품-사용자로 이어지는 디자인 아이덴티티 형성요소가 되고 있다는 측면에서 중요한 의의를 지니고 있다. 퍼시스 연구소에서 개발한 사무용 의자 싱크로(Xincro 상품명)는 제품의 디자인 자체와 그 개발 과정에서 종래의 사무용 의자 디자인의 틀을 벗어난 제품으로 평가되고 있다. Fursys, Inc is known as a leading office furniture manufacturer with it design oriented management and glass-clear management. As a result, the company enjoys a largest market share. Fursys export to some 40 countries products with original brand and design. Design developed by Fursys is not just a design identity which conveys product philosophy from company through product to customer/user. Xincro, a new office chair designed and developed by Fursys, has very strong feature in it design as it design/ development process.
최수나(Choi Soo na) 한국통번역교육학회 2006 통번역교육연구 Vol.4 No.2
In the discussion of the quality of interpretation, the interpreter s end product becomes the target of evaluation in many cases. However, such a method of study tends to be focused on the aspect of performance, and thus lacks in understanding how such a result was produced. Therefore, such an approach does not contribute to improving the overall quality of interpretation. In the process of message comprehension, the interpreter is required to have background knowledge regarding the speech or the text, contextual knowledge regarding the subject, and world knowledge as well as linguistic knowledge to understand the explicit meaning. Cognitive factors to understand the implicit meaning as well as short-term contextual knowledge play an important role for the interpreter to be able to comprehend the text segment that immediately follows. Of course, all the factors mentioned above may be closely related to the cognitive process for the interpreter s performance. But, contextual knowledge is stored and applied in particular situations, and therefore, the quality of interpretation will be greatly improved, depending on how well contextual knowledge is used. This paper attempts to examine the influence of contextual knowledge on the quality of consecutive interpretation and see if the topic is suitable for future research.
최수인 ( Soo In Choi ) 대한소화기학회 2022 대한소화기학회지 Vol.79 No.2
The Chicago Classification is being revised continuously for the accurate diagnosis of esophageal peristaltic disorders in which the etiology is unclear, and the disease behavior is heterogeneous. The ver. 4.0 was recently updated. A representative change in the diagnosis of esophageal peristaltic disorders of the ver. 4.0 showed that the distinction between major and minor disorders was eliminated and was divided into the following four diagnoses: absent contractility, distal esophageal spasm (DES), hypercontractile esophagus (HE), and ineffective esophageal motility. Compared to the ver. 3.0, it recommended a more detailed protocol of high-resolution esophageal manometry and methods of interpreting manometric. In addition, it emphasized the clinically relevant symptoms in diagnosing DES and HE, and presented provocative tests (e.g., multiple rapid swallow and rapid drinking challenge), as well as additional testing, including impedance, timed barium esophagogram and functional lumen imaging probe, which may provide more standardized and rigorous criteria for peristaltic patterns and to minimize the ambiguity in diagnosis. Although it will take time and effort to apply this revised Chicago Classification in clinical practice, it may help diagnose and manage patients with esophageal peristalsis disorder in the future. (Korean J Gastroenterol 2022;79:66-71)