• Title/Summary/Keyword: Advances

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Early Diagnosis of KBG Syndrome Using Diagnostic Exome Sequencing (Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단)

  • Hong, Jun Ho;Kim, Se Hee;Lee, Seung Tae;Choi, Jong Rak;Kang, Hoon Chul;Lee, Joon Soo;Kim, Heung Dong
    • Journal of the Korean Child Neurology Society
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    • v.26 no.4
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    • pp.272-275
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    • 2018
  • KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.

Balancing Water Supply Reliability, Flood Hazard Mitigation and Environmental Resilience in Large River Systems

  • Goodwin, Peter
    • Proceedings of the Korea Water Resources Association Conference
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    • 2016.05a
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    • pp.1-1
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    • 2016
  • Many of the world's large ecosystems are severely stressed due to population growth, water quality and quantity problems, vulnerability to flood and drought, and the loss of native species and cultural resources. Consequences of climate change further increase uncertainties about the future. These major societal challenges must be addressed through innovations in governance, policy, and ways of implementing management strategies. Science and engineering play a critical role in helping define possible alternative futures that could be achieved and the possible consequences to economic development, quality of life, and sustainability of ecosystem services. Science has advanced rapidly during the past decade with the emergence of science communities coalescing around 'Grand Challenges' and the maturation of how these communities function has resulted in large interdisciplinary research networks. An example is the River Experiment Center of KICT that engages researchers from throughout Korea and the world. This trend has been complemented by major advances in sensor technologies and data synthesis to accelerate knowledge discovery. These factors combine to allow scientific debate to occur in a more open and transparent manner. The availability of information and improved communication of scientific and engineering issues is raising the level of dialogue at the science-policy interface. However, severe challenges persist since scientific discovery does not occur on the same timeframe as management actions, policy decisions or at the pace sometimes expected by elected officials. Common challenges include the need to make decisions in the face of considerable uncertainty, ensuring research results are actionable and preventing science being used by special interests to delay or obsfucate decisions. These challenges are explored in the context of examples from the United States, including the California Bay-Delta system. California transfers water from the wetter northern part of the state to the drier southern part of the state through the Central Valley Project since 1940 and this was supplemented by the State Water Project in 1973. The scale of these activities is remarkable: approximately two thirds of the population of Californians rely on water from the Delta, these waters also irrigate up to 45% of the fruits & vegetables produced in the US, and about 80% of California's commercial fishery species live in or migrate through the Bay-Delta. This Delta region is a global hotspot for biodiversity that provides habitat for over 700 species, but is also a hotspot for the loss of biodiversity with more than 25 species currently listed by the Endangered Species Act. Understanding the decline of the fragile ecosystem of the Bay-Delta system and the potential consequences to economic growth if water transfers are reduced for the environment, the California State Legislature passed landmark legislation in 2009 (CA Water Code SS 85054) that established "Coequal goals of providing a more reliable water supply for California and protecting, restoring, and enhancing the Delta ecosystem". The legislation also stated that "The coequal goals shall be achieved in a manner that protects and enhances the unique cultural, recreational, natural resource, and agricultural values of the Delta as an evolving place." The challenges of integrating policy, management and scientific research will be described through this and other international examples.

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Study on predicting the commercial parts discontinuance using unstructured data and artificial neural network (상용 부품 비정형 데이터와 인공 신경망을 이용한 부품 단종 예측 방안 연구)

  • Park, Yun-kyung;Lee, Ik-Do;Lee, Kang-Taek;Kim, Du-Jeoung
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.20 no.10
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    • pp.277-283
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    • 2019
  • Advances in technology have allowed the development and commercialization of various parts; however this has shortened the discontinuation cycle of the components. This means that repair and logistic support of weapon system which is applied to thousands of part components and operated over the long-term is difficult, which is the one of main causes of the decrease in the availability of weapon system. To improve this problem, the United States has created a special organization for this problem, whereas in Korea, commercial tools are used to predict and manage DMSMS. However, there is rarely a method to predict life cycle of parts that are not presented DMSMS information at the commercial tools. In this study, the structured and unstructured data of parts of a commercial tool were gathered, preprocessed, and embedded using neural network algorithm. Then, a method is suggested to predict the life cycle risk (LC Risk) and year to end of life (YTEOL). In addition, to validate the prediction performance of LC Risk and YTEOL, the prediction value is compared with descriptive statistics.

Effect of Recipient's Age on the Pregnancy Outcomes in Oocyte Donation Program (난자공여 프로그램에서 난자수혜자의 연령이 임신율에 미치는 영향에 관한 연구)

  • Suh, C.S.;Oh, S.K.;Kim, S.H.;Choi, Y.M.;Kim, J.G.;Moon, S.Y.;Lee, J.Y.
    • Clinical and Experimental Reproductive Medicine
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    • v.24 no.2
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    • pp.167-177
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    • 1997
  • Oocyte donation program developed to reach the pregnancy in those patients suffering from premature ovarian failure or surgery induced menopause, particularly in their reproductive age. With technical advances and popularity of ART (assisted reproductive technology), the indication of oocyte donation program extended to low responders, and even to naturally menopaused patients that has led them quite successfully to getting in pregnancy. The purpose of this study was to evaluate which one is involved in the decline of fertility between the oocyte and uterine factor. One hundred five cycles of oocyte donation program were performed in 84 patients from Jan., 1993 to Dec., 1996. Oocytes were donated from healthy, young, fertile anonymous donors or relatives or infertile patients with supernumerary oocytes. The study population was divided into 3 groups according to the age of recipients. Group 1 was less than 35 years old, Group 2 was between 35 to 39 years old, and Group 3 was more than 39 years old. The results were as follows: The mean age of oocyte donor was $31.5{\pm}3.3$ (range; 25-36). The mean concentration of basal serum FSH and peak serum estradiol were not different among groups. The mean number of oocytes retrieved from donors, embryos transferred to recipients, and fertilization rate were not different among groups. The clinical pregnancy rate was 37.3% in Group 1, 31.6% in Group 2, and 31.6% in Group 3, respectively. The spontaneous abortion rate was 16.0% in Group 1, 16.7% in Group 2, and 16.7 in Group 3, respectively. The multiple pregnancy rate was 20.0% in Group 1, 16.7% in Group 2, 16,7% in Group 3, respectively, The implantation rate was 11.3% in Group 1, 10.3% in Group 2 and 10.0% in Group 3, respectively. All of the pregnancy outcomes were not different statistically among groups. In conclusion, endometrial receptivity does not seem to be impaired as age increases with transfer of good quality embryos and adequate endometrial preparation.

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Acoustic Full-waveform Inversion Strategy for Multi-component Ocean-bottom Cable Data (다성분 해저면 탄성파 탐사자료에 대한 음향파 완전파형역산 전략)

  • Hwang, Jongha;Oh, Ju-Won;Lee, Jinhyung;Min, Dong-Joo;Jung, Heechul;Song, Youngsoo
    • Geophysics and Geophysical Exploration
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    • v.23 no.1
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    • pp.38-49
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    • 2020
  • Full-waveform inversion (FWI) is an optimization process of fitting observed and modeled data to reconstruct high-resolution subsurface physical models. In acoustic FWI (AFWI), pressure data acquired using a marine streamer has mainly been used to reconstruct the subsurface P-wave velocity models. With recent advances in marine seismic-acquisition techniques, acquiring multi-component data in marine environments have become increasingly common. Thus, AFWI strategies must be developed to effectively use marine multi-component data. Herein, we proposed an AFWI strategy using horizontal and vertical particle-acceleration data. By analyzing the modeled acoustic data and conducting sensitivity kernel analysis, we first investigated the characteristics of each data component using AFWI. Common-shot gathers show that direct, diving, and reflection waves appearing in the pressure data are separated in each component of the particle-acceleration data. Sensitivity kernel analyses show that the horizontal particle-acceleration wavefields typically contribute to the recovery of the long-wavelength structures in the shallow part of the model, and the vertical particle-acceleration wavefields are generally required to reconstruct long- and short-wavelength structures in the deep parts and over the whole area of a given model. Finally, we present a sequential-inversion strategy for using the particle-acceleration wavefields. We believe that this approach can be used to reconstruct a reasonable P-wave velocity model, even when the pressure data is not available.

Fracture toughness of high performance concrete subjected to elevated temperatures Part 2 The effects of heating rate, exposure time and cooling rate

  • Zhang, Binsheng;Cullen, Martin;Kilpatrick, Tony
    • Advances in concrete construction
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    • v.5 no.5
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    • pp.513-537
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    • 2017
  • In this study, the fracture toughness $K_{IC}$ of high performance concrete (HPC) was investigated by conducting three-point bending tests on a total of 240 notched beams of $500mm{\times}100mm{\times}100mm$ subjected to heating temperatures up to $450^{\circ}C$ with exposure times up to 16 hours and various heating and cooling rates. For a heating rate of $3^{\circ}C/min$, $K_{IC}$ for the hot concrete sustained a monotonic decrease trend with the increasing heating temperature and exposure time, from $1.389MN/m^{1.5}$ at room temperature to $0.942MN/m^{1.5}$ at $450^{\circ}C$ for 4-hour exposure time, $0.906MN/m^{1.5}$ for 8-hour exposure time and $0.866MN/m^{1.5}$ for 16-hour exposure time. For the cold concrete, $K_{IC}$ sustained a two-stage decrease trend, dropping slowly with the heating temperature up to $150^{\circ}C$ and then rapidly down to $0.869MN/m^{1.5}$ at $450^{\circ}C$ for 4-hour exposure time, $0.812MN/m^{1.5}$ for 8-hour exposure time and $0.771MN/m^{1.5}$ for 16-hour exposure time. In general, the $K_{IC}$ values for the hot concrete up to $200^{\circ}C$ were larger than those for the cold concrete, and an inverse trend was observed thereafter. The increase in heating rate slightly decreased $K_{IC}$, and at $450^{\circ}C$ $K_{IC}$ decreased from $0.893MN/m^{1.5}$ for $1^{\circ}C/min$ to $0.839MN/m^{1.5}$ for $10^{\circ}C/min$ for the hot concrete and from $0.792MN/m^{1.5}$ for $1^{\circ}C/min$ to $0.743MN/m^{1.5}$ for $10^{\circ}C/min$ for the cold concrete after an exposure time of 16 hours. The increase in cooling rate also slightly decreased $K_{IC}$, and at $450^{\circ}C$ $K_{IC}$ decreased from $0.771MN/m^{1.5}$ for slow cooling to $0.739MN/m^{1.5}$ for fast cooling after an exposure time of 16 hours. The fracture energy-based fracture toughness $K_{IC}$' was also assessed, and similar decrease trends with the heating temperature and exposure time existed for both hot and cold concretes. The relationships of two fracture toughness parameters with the weight loss and the modulus of rapture were also evaluated.

Usability Test on Haptic Interaction With Real Object in Virtual Reality (실제 사물을 이용한 VR 햅틱 인터랙션 사용성 테스트)

  • Yang, Han Ul;Park, Jun
    • Journal of the Korean Society for Computer Game
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    • v.31 no.4
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    • pp.197-203
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    • 2018
  • As people's interest in Virtual Reality has recently increased, peripherals have also made many progress. There is a lot of research being done from VR environment to VR configuration through scanning at room level with various interface devices that can interact with objects in the environment. According to current VR research Home VR uses multiple haptic interfaces to interact with objects configured in the VR environment, the method uses room scanning to some extent is beyond the spatial constraints and may use tracking equipment to interact with real objects. And advances in 3D printers have enabled the distribution of commercial 3D printers and home 3D printers, and made it easy for 3D printers to create models of their choice at home or at home. Considering the above two factors, We think it is necessary to study the difference between a model's object that people feel when interacting directly with an easy-to-create model in a VR environment. Therefore, in this paper, we are going to implement objects produced by 3D printers in VR space and study the differences between using real objects and other general interaction equipment through user testing with those that are actually implemented.

Vehicle Localization Method for Lateral Position within Lane Based on Vision and HD Map (비전 및 HD Map 기반 차로 내 차량 정밀측위 기법)

  • Woo, Rinara;Seo, Dae-Wha
    • The Journal of The Korea Institute of Intelligent Transport Systems
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    • v.20 no.5
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    • pp.186-201
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    • 2021
  • As autonomous driving technology advances, the accuracy of the vehicle position is important for recognizing the environments around driving. Map-matching localization techniques based on high definition (HD) maps have been studied to improve localization accuracy. Because conventional map-matching techniques estimate the vehicle position based on an HD map reference dataset representing the center of the lane, the estimated position does not reflect the deviation of the lateral distance within the lane. Therefore, this paper proposes a localization system based on the reference lateral position dataset extracted using image processing and HD maps. Image processing extracts the driving lane number using inverse perspective mapping, multi-lane detection, and yellow central lane detection. The lane departure method estimates the lateral distance within the lane. To collect the lateral position reference dataset, this approach involves two processes: (i) the link and lane node is extracted based on the lane number obtained from image processing and position from GNSS/INS, and (ii) the lateral position is matched with the extracted link and lane node. Finally, the vehicle position is estimated by matching the GNSS/INS local trajectory and the reference lateral position dataset. The performance of the proposed method was evaluated by experiments carried out on a highway environment. It was confirmed that the proposed method improves accuracy by about 1.0m compared to GNSS / INS, and improves accuracy by about 0.04m~0.21m (7~30%) for each section when compared with the existing lane-level map matching method.

Modern diagnostic capabilities of neonatal screening for primary immunodeficiencies in newborns

  • Khalturina, Evgenia Olegovna;Degtyareva, Natalia Dmitrievna;Bairashevskaia, Anastasiia Vasi'evna;Mulenkova, Alena Valerievna;Degtyareva, Anna Vladimirovna
    • Clinical and Experimental Pediatrics
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    • v.64 no.10
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    • pp.504-510
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    • 2021
  • Population screening of newborns is an extremely important and informative diagnostic approach that allows early identification of babies who are predisposed to the development of a number of serious diseases. Some of these diseases are known and have effective treatment methods. Neonatal screening enables the early diagnosis and subsequent timely initiation of therapy. This helps to prevent serious complications and reduce the percentage of disability and deaths among newborns and young children. Primary immunodeficiency diseases and primary immunodeficiency syndrome (PIDS) are a heterogeneous group of diseases and conditions based on impaired immune system function associated with developmental defects and characterized by various combinations of recurrent infections, development of autoimmune and lymphoproliferative syndromes (genetic defects in apoptosis, gene mutation Fas receptor or ligand), granulomatous process, and malignant neoplasms. Most of these diseases manifest in infancy and lead to serious illness, disability, and high mortality rates. Until recently, it was impossible to identify children with PIDS before the onset of the first clinical symptoms, which are usually accompanied by complications in the form of severe coinfections of a viral-bacterial-fungal etiology. Modern advances in medical laboratory technology have allowed the identification of children with severe PIDS, manifested by T- and/or B-cell lymphopenia and other disorders of the immune system. This review discusses the main existing strategies and directions used in PIDS screening programs for newborns, including approaches to screening based on excision of T-cell receptors and kappa-recombination excision circles, as well as the potential role and place of next-generation sequencing technology to increase the diagnostic accuracy of these diseases.

Determinants of New Product Performance and Environmental Dynamics as a Moderating Effect (신제품개발성과의 결정요인과 환경동태성의 조절효과)

  • Liu, Zhen;Bang, Ho-Yeol
    • Asia-pacific Journal of Multimedia Services Convergent with Art, Humanities, and Sociology
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    • v.9 no.1
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    • pp.845-858
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    • 2019
  • The most serious problem company facing in today's business environment is the failure of new product development outcomes. Statistically, almost half of the new products released each year failed. Despite the innovative technological advances, consumers' expectation level become much higher and global competition is intensifying. In addition, the new product life cycle is becoming shorter and shorter. It is difficult for a company to survive without developing long-lived products. The most important issue in a company's success and failure is the successful development and introduction of new products. Previous research has presented many determinants to achieve a successful new product development. This study focuses on dynamic competence as an important determinant, and identifies the constituting elements. Enterprises need to acquire, absorb, integrate and reconfigure their resources to survive and develop continuously. It is necessary to hold a dynamic ability switching resource bases in order to adapt to changing environments. The results of this study are as follows: First, the effect of learning, reconfiguration, and alliance capabilities on the new product development of small and medium-sized manufacturing enterprises seems to be positive. Second, the integrative and reconfiguration capabilities positively affect a new product development under high environmental turbulence.