• Journal of Genetic Medicine
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• v.15 no.1
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• pp.24-27
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• 2018

Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused by an SMC1A mutation is an extremely rare disease characterized by phenotypes milder than those of classic CdLS. In the Republic of Korea, based on a literature review, one family with SMC1A-related CdLS with mild phenotypes has been genetically confirmed to date. In this study, we describe the clinical features of a Korean boy with a hemizygous novel missense mutation and his mother with a heterozygous mutation, i.e., c.2447G>A (p.Arg816His) in SMC1A, identified by multi-gene panel sequencing. The proband had a mild phenotype with typical facial features and his mother exhibited a mild, subclinical phenotype. This study expands the clinical spectrum of patients with X-linked CdLS caused by SMC1A variants. Moreover, these findings reinforce the notion that a dominant negative effect in a carrier female with a heterozygous mutation in SMC1A results in a phenotype milder than that in a male patient with the same mutation.

• Proceedings of the Korean Institute of Interior Design Conference
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• 2004.11a
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• pp.15-18
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• 2004

The study focused on residents' preference for planning components according to preferred size of high-rise condominiums. After being examined not only a brief chronological review of spatial composition and planning components in high-rise condominiums but also residents' attitudes toward and preference for current planning components, this research developed a wide range of planning components included in the questionnaire. The main survey was designed to find out the needs of residents for planning components in relation to high-rise condominiums. Descriptive and factor analysis were utilized to find out the residents' different preference for planning components. The findings of this study showed that residents were very aware of healthy housing, environmental friendly housing and digitally equipped housing, and their preference was different according to preferred size of condominium housing. In other words, residents preferring condominium housing with 99m$^2$ or smaller considered features of safety and healthy housing as important, those with between 102.3m$^2$ to 115.5m$^2$ recognized experiential space, and those with 118.8m$^2$ or larger regarded features of housing management and storage as important. It is suggested that the needs and wants of residents for housing have been various to be customized.

• Journal of the Ergonomics Society of Korea
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• v.31 no.4
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• pp.557-565
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• 2012

Objective: This paper focuses on the new trend of applying NUI(natural user interface) such as gesture interaction into television and investigates on the design improvement needed in application. The intention is to find better design direction of NUI on television context, which will contribute to making new features and behavioral changes occurring in next-generation television more practically usable and meaningful use experience elements. Background: Traditional television is rapidly evolving into next-generation television thanks to the influence of "smartness" from mobile domain. A number of new features and behavioral changes occurred from such evolution are on their way to be characterized as the new experience elements of next-generation television. Method: A series of expert review by television UX professionals based on AHP (Analytic Hierarchy Process) was conducted to check on the "relative appropriateness" of applying gesture interaction to a number of selected television user experience scenarios. Conclusion: It is critical not to indiscriminately apply new interaction techniques like gesture into television. It may be effective in demonstrating new technology but generally results in poor user experience. It is imperative to conduct consistent validation of its practical appropriateness in real context. Application: The research will be helpful in applying gesture interaction in next-generation television to bring optimal user experience in.

• STI Policy Review
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• v.7 no.2
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• pp.85-105
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• 2016

This study compares the economic impacts among ICT sectors and derives strategic considerations for development of the ICT industry in Korea. Prior to analysis, this study classified ICT industry into four sectors: ICT equipment, components, service, and SW/system. This study conducted Input-Output Analysis on the four ICT sectors. An Input-Output Analysis is a quantitative economic technique that represents the direct and indirect interdependencies between different industries of a national economy. Features of each ICT sector were observed in the results. Within the ICT equipment sector, production is decreasing, import dependence is increasing, and employment size is very low, relative to the overall ICT industry. The component sector accounts for the over half of the output and value added of the ICT industry, but domestic production has recently declined. The subsector experienced decreasing production and increasing imports relative to the other ICT subsectors. In the service sector, output is small but its production and employment impact is very high. The fourth sector, ICT SW/system, has very low impact on production but high impact on employment. These features suggest two strategies to develop the ICT industry in Korea. First, the ICT component and service sectors should be promoted to stimulate growth of the national economy. Second, to encourage employment growth, policies should promote the ICT SW/system and service sectors.

• Journal of Korean Neurosurgical Society
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• v.55 no.3
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• pp.173-177
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• 2014

Neurocysticercosis is the commonest parasitic disease of the human central nervous system. The incidence of intra ventricular form of neurocysticercosis (NCC) is less common accounting 10-20% that of total central nerve system cysticercosis. Intra ventricular NCC is complicated due, to its high incidence of acute hydrocephalus caused by ball valve mechanism. The only reliable tool for diagnosis of NCC is by neuroimaging with CT or MRI. MRI preferred over CT because of its high specificity and sensitivity. In emergency situations like acute hydrocephalus one can proceed with emergency endoscopic surgery. Through the endoscopic view, intra ventricular NCC (IVNCC) has distinguished morphological features like the full moon sign. This feature not only helps in identification of IVNCC, but also guides in further endoscopic treatment strategy. Authors report two cases of 3rd ventricular NCC with acute hydrocephalus managed with emergency endoscopy. Authors have discussed the clinical features, intra operative endoscopic findings and role of endoscopy in emergency surgery for NCC with acute hydrocephalus.

• Annals of Pediatric Endocrinology and Metabolism
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• v.22 no.1
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• pp.15-26
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• 2017

The prevalence of type 2 diabetes (T2D) is increasing worldwide. Patients with T2D suffer from various diabetes-related complications. Since there are many patients with T2D that cannot be controlled by previously developed drugs, it has been necessary to develop new drugs, one of which is a glucagon-like peptide-1 (GLP-1) based therapy. GLP-1 has been shown to ameliorate diabetes-related conditions by augmenting pancreatic ${\beta}-cell$ insulin secretion and having the low risk of causing hypoglycemia. Because of a very short half-life of GLP-1, many researches have been focused on the development of GLP-1 receptor (GLP-1R) agonists with long half-lives such as exenatide and dulaglutide. Now GLP-1R agonists have a variety of dosing-cycle forms to meet the needs of various patients. In this article, we review the physiological features of GLP-1, the effects of GLP-1 on T2D, the features of several GLP-1R agonists, and the therapeutic effect on T2D.

• Journal of The Korean Society of Grassland and Forage Science
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• v.41 no.3
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• pp.217-222
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• 2021

Barnyard millet is a short-lived tropical, short-term C4 plant and has superior vitality in humid conditions owing to its freshwater habitat. It shows strong adaptability to soils with poor drainage and low fertility, and efficiently competes with rice in paddy fields. Barnyard millet grain is used as feed in the Indian region and is a great source of dietary fiber, proteins, fats, vitamins, and some essential amino acids. Considering its high nutritional value and its potential as a food resource and fodder crop, various countries are showing interest in cultivating barnyard millet. However, in Korea, farm households have not yet recognized the benefits of cultivating barnyard millet, and research regarding this is scarce. In this review, the features of forage barnyard millet and its related research trends are discussed, with the aim of improving interest in this crop and promoting its cultivation.

• Parasites, Hosts and Diseases
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• v.57 no.4
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• pp.411-416
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• 2019

To analyze the clinical and endoscopic features of colonic anisakiasis. A retrospective chart review of 20 patients with colonic anisakiasis, who were diagnosed by colonoscopy at 8 hospitals between January 2002 and December 2011, was performed. Patients' mean age was $53.6{\pm}10.74years$. Seventy percent patients were men. Acute abdominal pain was a common symptom that mostly developed within 48 hr after the ingestion of raw fish, and which lasted for 1-28 days. Sixty percent patients had ingested raw fish before the diagnosis of colonic anisakiasis and 40% patients were incidentally found to have colonic anisakiasis during the screening colonoscopies. Leukocytosis and eosinophilia were each found in 20% of the patients. In all patients who underwent colonoscopy, the worms were removed with biopsy forceps, except in 1 case, and a definite diagnosis of anisakiasis was made. In some cases of colonic anisakiasis, colonoscopy may be helpful in the diagnosis and treatment to avoid surgical intervention.

• Journal of the Architectural Institute of Korea Structure & Construction
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• v.35 no.1
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• pp.37-46
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• 2019

In order to present the enhancement direction for the military administrative facilities, that can satisfy the user demands and achieve cost-effectiveness the goal of public projects, this research analyzes the features of functional spaces using Analytical Hierarchy Process(AHP). Basically, the scope is selected to four facilities commander office, private office, public office, and meeting room, because they have an effect on military administrative facilities. Since the space is established by a combination of their own functions, this research begins with an analysis of functional spaces of military administrative facilities, which is verified through literature review and interview with expert. Thereafter, an AHP survey is conducted to military personnel to analyze the priority of functional spaces and to re-classify the functional spaces of each Military administrative facilities. Resultingly, the difference of functional spaces preference according to ranks and facility type are identified. Even though the same military facilities, it means that user satisfaction is different. Therefore, user satisfaction should be considered for each facility at the construction plan. It can minimize overlapped and unused spaces, which can help ensure cost-effectiveness. Consequently, this research suggested the methodology and the process that can take user satisfaction and can support the enhancement of military facilities standards.

• Journal of the Korean Society of Clothing and Textiles
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• v.44 no.5
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• pp.984-1003
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• 2020

The global fashion industry produces significant carbon emission and micro-plastics in oceans. Studies on sustainable design methods as such environmental issues in fashion are becoming intensely problematic. This study conducted a case study on 100 upcycle fashion brands to propose strategical upcycle fashion designs to compete in a sustainable fashion market. A literature review indicated that 3 types of textile wastes are generated as upcycling materials: post-producer, pre-consumer and post-consumer. Wastes are categorized together with 3 types of techniques: redesigning, reconstruction and handcrafting. This research derived 7 types of upcycle fashion designs that have the following features: to make luxury upcycle fashion products, to make sustainable grunge looks, to re-evaluate deadstocks, to recover vintage clothes, to convert waste into craft-arts, to offer solutions for damaged products, and to make zero-waste small fabric waste. The study results show that key drivers in the upcycle fashion design are the redesignability of materials and technique-related costs. This study implies that adopting appropriate design features can be a useful strategy for designers. New technologies will solve current problems and encourage them to design products in a new circular value system.