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A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing

  • Suh, Yoong-a;Sohn, Young Bae;Park, Moon Sung;Lee, Jang Hoon
    • Neonatal Medicine
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    • v.28 no.2
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    • pp.89-93
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    • 2021
  • Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

Development of cellulose nano beads based a rapid detection kit to detect staphylococcal enterotoxin B

  • Kim, Giyoung;Yoo, Jinyoung;Park, Saetbyeol
    • Korean Journal of Agricultural Science
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    • v.46 no.3
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    • pp.549-557
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    • 2019
  • Staphylococcal enterotoxin is a very common cause of food poisoning. Conventional detection methods for the toxin including enzyme-linked immunosorbent assays (ELISAs), chemiluminescence (ECL), and polymerase chain reaction (PCR) assays require a lot of time, efforts, and expert technicians. Lateral flow strip kits have shown great potential for the rapid detection of foodborne pathogens. The lateral flow strip kit is widely used in clinical settings because it is easy to use, fast, and cost effective. A typical lateral flow strip kit uses colloidal gold to generate a visual signal. However, the lateral flow strip kit based on colloidal gold has limited sensitivity to fulfill food safety regulation requirements. This study was performed to develop a rapid test kit for pathogenic staphylococcal enterotoxin B (SEB) in food samples. The rapid detection kit was fabricated based on a nitrocellulose lateral-flow strip. Cellulose nano beads and SEB antibodies were used as the tag and receptor, respectively, to improve the detection performance. Manually spotted SEB antibody and anti-rabbit antibody on the surface of the nitrocellulose membrane were used as test and control spots, respectively. The feasibility of the rapid test kit to detect SEB in samples was evaluated. The sensitivity of the kit was 10 ng/mL SEB spiked in PBS. Additionally, the rapid test kit could detect 1 ng/mL of SEB in chicken meat extract.

Single Manufacturer and Multiple Retailers Multi-Product Inventory Model under Cap-and-Trade Mechanism (배출권거래제 하에서 단일 제조업자-다소매업자의 공급사슬에서 다품목의 재고모형)

  • Kim, Dae-Hong
    • Journal of Korean Society of Industrial and Systems Engineering
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    • v.42 no.1
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    • pp.158-166
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    • 2019
  • In pursuing carbon emission reduction efforts, companies have focused for the most part on reducing emissions due to the more efficient equipment and facilities. However they overlook a significant source of carbon emissions, one that is driven by operational policies. Currently companies are looking for solutions to reduce carbon emissions associated with their operations. Operational adjustments, such as modifications in order quantities could an effective way in reducing carbon emissions in the supply chain. Also, Cap-and-Trade mechanism is generally accepted as on of the most effective market-based mechanism to reduce carbon emissions. In this paper, we investigate a supply chain with single manufacturer and multiple retailers multi-product inventory model under the cap-and-trade system incorporating the carbon emissions caused by transportation and warehousing activities. Also, we provide an iterative solution algorithm and derive the common order interval and the number of intervals for each product. We show by numerical example that the inventory model incorporating cap & trade mechanism can reduce total cost and carbon emissions compared to the classical inventory model. Using the numerical examples, we also investigates different carbon price on the performance of the inventory model.

Reduced-mass Adaptive TMD for Tall Buildings Damping

  • Weber, Felix;Huber, Peter;Spensberger, Simon;Distl, Johann;Braun, Christian
    • International Journal of High-Rise Buildings
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    • v.8 no.2
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    • pp.117-123
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    • 2019
  • Tall buildings are prone to wind-induced vibrations due to their slenderness whereby peak structural accelerations may be higher than the recommended maximum value. The common countermeasure is the installation of a tuned mass damper (TMD) near the highest occupied floor. Due to the extremely large modal mass of tall buildings and because of the narrow to broad band type of wind excitation the TMD mass may become inacceptable large - in extreme cases up to 2000 metric tons. It is therefore a need to develop more efficient TMD concepts which provide the same damping to the building but with reduced mass. The adaptive TMD concept described in this paper represents a solution to this problem. Frequency and damping of the adaptive TMD are controlled in real-time by semi-active oil dampers according to the actual structural acceleration. The resulting enhanced TMD efficiency allows reducing its mass by up to 20% compared to the classical passive TMD. The adaptive TMD system is fully fail-safe thanks to a smart valve system of the semi-active oil dampers. In contrast to active TMD solutions the adaptive TMD is unconditionally stable and its power consumption on the order of 1 kW is negligible small as controllable oil dampers are semi-active devices. The adaptive TMD with reduced mass, stable behavior and lowest power consumption is therefore a preferable and cost saving damping tool for tall buildings.

Technique for fabricating a mandibular suction denture with a plastic implant tray (임플란트용 플라스틱 트레이를 이용하여 하악 흡착의치를 제작하는 방법)

  • Lee, Ju-Hyoung
    • The Journal of Korean Academy of Prosthodontics
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    • v.59 no.1
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    • pp.36-42
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    • 2021
  • Even though implant overdentures are preferentially recommended to mandibular edentulous patients, many patients may select conventional complete dentures due to cost and general condition. Proper retention and stability of conventional complete dentures in patients with severe alveolar bone resorption is difficult to achieve. To overcome the limitations, mandibular suction dentures with the closed mouth impression technique have been used. However, the previous technique requires the Frame cut back tray, the Centric tray, and the Gnathometer M. This article introduces a technique for fabricating a mandibular suction denture with common dental materials.

Personalized Specific Premature Contraction Arrhythmia Classification Method Based on QRS Features in Smart Healthcare Environments

  • Cho, Ik-Sung
    • Journal of IKEEE
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    • v.25 no.1
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    • pp.212-217
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    • 2021
  • Premature contraction arrhythmia is the most common disease among arrhythmia and it may cause serious situations such as ventricular fibrillation and ventricular tachycardia. Most of arrhythmia clasification methods have been developed with the primary objective of the high detection performance without taking into account the computational complexity. Also, personalized difference of ECG signal exist, performance degradation occurs because of carrying out diagnosis by general classification rule. Therefore it is necessary to design efficient method that classifies arrhythmia by analyzing the persons's physical condition and decreases computational cost by accurately detecting minimal feature point based on only QRS features. We propose method for personalized specific classification of premature contraction arrhythmia based on QRS features in smart healthcare environments. For this purpose, we detected R wave through the preprocessing method and SOM and selected abnormal signal sets.. Also, we developed algorithm to classify premature contraction arrhythmia using QRS pattern, RR interval, threshold for amplitude of R wave. The performance of R wave detection, Premature ventricular contraction classification is evaluated by using of MIT-BIH arrhythmia database that included over 30 PVC(Premature Ventricular Contraction) and PAC(Premature Atrial Contraction). The achieved scores indicate the average of 98.24% in R wave detection and the rate of 97.31% in Premature ventricular contraction classification.

Empirical Study on Determinants of T/T Payment Risk in International Trade (무역거래에서 송금(T/T)방식의 결제 위험성에 영향을 미치는 요인분석)

  • Han, Woo-Jung;Cho, Hyuk-Soo
    • Korea Trade Review
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    • v.44 no.6
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    • pp.87-103
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    • 2019
  • L/C(Letter of Credit) is a common payment term designed to prevent credit risk in international trade. However, most companies prefer T/T (Telegraphic Transfer) payment due to its time and cost efficiency. According to related statistics, more than 70% of international trade contracts are based on T/T rather than other payment terms. The time required from the export negotiation to the completion of the export transaction and collection in international trade is very long. In this process, disputes related to settlement are continuous, so caution should be exercised. Therefore, whether or not the export payment is recovered in a timely manner is the core issue of trade transactions for exporters. The purpose of this study is to identify problems that cause delayed payments during settlement by the remittance (T/T) method, which can lead to settlement risk, in order to investigate those factors which can lead to delays in payments and increased risk as well as to determine ways to prevent such factors in advance. According to empirical findings, trading experience, transaction duration, and contract contents can be important determinants in terms of payment delays. Industry uniqueness and market uncertainty were found to be in opposition to the hypothesized relationships. The results of this study will be useful for trading companies to reduce their payment risk.

A Methodology for CC-based Security Requirements Analysis and Specification by using Misuse Case Model (Misuse Case 모델을 이용한 CC기반의 보안요구사항 분식 및 명제 방법론)

  • 최상수;장세진;최명길;이강수
    • Journal of the Korea Institute of Information Security & Cryptology
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    • v.14 no.3
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    • pp.85-100
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    • 2004
  • All information system is information security system that enforced security function. To improve qualify of information security system, suity requirement analysis and specification must be Performed by consistently and typically at early requirement analysis step. In this paper, we propose a security requirements analysis and specification model and process by using Misuse Case Model that extends UML's Use Case Model. And, we propose a cost-effective security product selection algorithm that security product is sufficient of all constructed security functional requirements. It may raise quality of information security system that developed through proposed model and process.

A Study on the Digitalization of User Research Tool for Service Design (서비스 디자인을 위한 사용자 조사 도구의 디지털화에 대한 연구)

  • Koo, Do Hee;Chon, Woo Jeong
    • Journal of Korea Multimedia Society
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    • v.24 no.3
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    • pp.494-507
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    • 2021
  • As service design becomes more common, various user research methods and tools such as cultural probes and contextual inquiry are being used to grasp the user's experience and needs. These methodologies have the advantage of being able to derive various insights through direct observation and investigation, but have disadvantages in that problems such as time and space constraints, cost occurrence, and delay in the service development process may occur. In addition, it is difficult to conduct actual observations, face-to-face investigations, and interviews due to COVID-19, which has recently spread rapidly around the world. Accordingly, prior to the digitization of cultural probes, I would like to suggest the direction of digital tools. First, after grasping the concept of service design and user research through literature research, the necessity of user research in service design was confirmed. After that, the necessity of digitalizing user research was confirmed by extracting functional elements that could be understood and digitalized about the cultural probes methodology, and analyzing previous studies using existing mobile-based survey techniques. Finally, we confirmed the direction of digital tools through user interviews through cultural probes.

Types and Characteristics of Digital Anthropometric Methods (디지털 인체 계측 방법의 유형 및 특성)

  • Kim, Rira
    • Journal of Fashion Business
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    • v.25 no.5
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    • pp.88-98
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    • 2021
  • In this study, the characteristics of digital anthropometric methods were determined with case studies. These methods were broadly classified into two categories: non-wearable and wearable. Then, these categories were further classified into four types: 3D Scanning, mobile app, smart clothing, and smart tool Among the non-wearable types, the "3D scanning" technique was based on the use of 3D hardware equipment. With this technique, the body shape was measured and the internal body information was obtained. Therefore, it is used in fields of healthcare and fitness. Among the wearable types, "Smart clothing" involves a special clothing that measures human body and a smartphone application. Both the components are linked to a fashion platform, which is based on the measured sizes that help shoppers. The "Smart tool" has the characteristic of measuring only with smart tools and smartphone applications; it does not involve the measurement of images. The common advantage of digital anthropometric methods are as follows: they reduce the time and cost of measurement by enabling self-measurement. Moreover, simple measurements are used to determine the size of anthropometry. Thereafter, it accumulates this data to track the continuous changes in size. From an industrial point of view, digital anthropometric technology should be used to increase sales. The on-demand market can be expanded as global consumers would throng the Korean fashion market. For the consumer, an avatar should be created to fit the user's size. This would provide a fun experience to the user.