• Title/Summary/Keyword: Rapid diagnosis

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Genetic Diagnosis of Inherited Metabolic Disorders using Next-Generation Sequencing (차세대 염기서열분석을 이용한 유전성 대사질환의 유전진단)

  • Chang-Seok Ki
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.23 no.2
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    • pp.1-7
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    • 2023
  • Inherited metabolic disorders (IMD) are a group of disorders involving various metabolic pathways. Genetic diagnosis of IMD has been challenging because of extremely heterogeneous nature and extensive laboratory and/or phenotype overlap. Conventional genetic diagnosis was a gene-by-gene approach that needs a priori information on the causative genes that might underlie the IMD. Recent implementation of next-generation sequencing (NGS) technologies has changed the process of genetic diagnosis from a gene-by-gene approach to simultaneous analysis of targeted genes possibly associated with the IMD using gene panels or using whole exome/genome sequencing (WES/WGS) covering entire human genes. Clinical NGS tests can be a cost-effective approach for the rapid diagnosis of IMD with genetic heterogeneity and are becoming standard diagnostic procedures.

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Comparing machine fault diagnosis performances on current, vibration and flux based smart sensors (전류, 진동 및 자속센서기반 스마트센서를 이용한 기계결함진단 성능비교)

  • Son, Jong-Duk;Tae, Sung-Do;Yang, Bo-Suk;Hwang, Don-Ha;Kang, Dong-Sik
    • Proceedings of the Korean Society for Noise and Vibration Engineering Conference
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    • 2008.04a
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    • pp.809-816
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    • 2008
  • With increasing demands for reducing cost of maintenance which can detect machine fault automatically; low cost and intelligent functionality sensors are required. Rapid developments, in semiconductor, computing, and communication have led to a new generation of sensor called "smart" sensors with functionality and intelligence. The purpose of this research is comparison of machine fault classification between general analyzer signals and smart sensor signals. Three types of sensors are used in induction motors faults diagnosis, which are vibration, current and flux. Classification results are satisfied.

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New Molecules in Babesia gibsoni and Their Application for Diagnosis, Vaccine Development, and Drug Discovery

  • Goo, Youn-Kyoung;Xuan, Xuenan
    • Parasites, Hosts and Diseases
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    • v.52 no.4
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    • pp.345-353
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    • 2014
  • Babesia gibsoni is an intraerythrocytic apicomplexan parasite that causes piroplasmosis in dogs. B. gibsoni infection is characterized clinically by fever, regenerative anemia, splenomegaly, and sometimes death. Since no vaccine is available, rapid and accurate diagnosis and prompt treatment of infected animals are required to control this disease. Over the past decade, several candidate molecules have been identified using biomolecular techniques in the authors' laboratory for the development of a serodiagnostic method, vaccine, and drug for B. gibsoni. This review article describes newly identified candidate molecules and their applications for diagnosis, vaccine production, and drug development of B. gibsoni.

Application of Hierarchical Logic Based Expert System to the Power System Fault Diagnosis (계층 논리 기반 전문가 시스템의 전력계통 고장진단에의 적용)

  • Park, Yeong-Mun;Kim, Gwang-Won;Lee, Gwang-Ho;Jeong, Jae-Gil
    • The Transactions of the Korean Institute of Electrical Engineers A
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    • v.48 no.7
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    • pp.863-871
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    • 1999
  • While Logic Based Expert System (LBES) has a merit of rapid and complete inference, it also has a defect of huge knowledge base. Hierarchical LBES (HLBES) replaces the assertion time inference of LBES with the multi-level logic minimization procedure, and it guarantees smaller knowledge base comparing with LBES. This paper has two contributions. The one is proposing so-called fact-minimization procedure which reduces not only the number of facts or measured events but also the size of knowledge base dramatically. The other contribution is application of HLBES and the proposed fact-minimization to the fault diagnosis of power system. The application is successfully performed in the example with the transmission system which takes 72 goals and 352 facts.

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Importance of Accurate Diagnosis in Pyoderma Gangrenosum

  • Kim, Yoon Soo;Kim, Han Kyeol;Han, Yea Sik
    • Archives of Craniofacial Surgery
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    • v.15 no.3
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    • pp.138-141
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    • 2014
  • Pyoderma gangrenosum is a rare inflammatory reactive dermatosis marked by painful cutaneous ulcers. Diagnosis of pyoderma gangrenosum is usually made based on past medical history and after the exclusion of other possible diseases based on the clinical manifestations of the lesion. Diseases that show rapid progression to necrosis and that should not be misdiagnosed as pyoderma gangrenosum include malignant neoplasms and necrotizing fasciitis. Immunosuppressive agents such as steroids and cyclosporine are considered first-line therapy. Surgical removal of the necrotic tissues is contraindicated, as it may further induce immune reaction and promote ulcer to enlarge. Here, we present a case to encourage plastic surgeons to consider pyodermagangrenosum in the differential diagnosis of idiopathic ulcers. Satisfactory outcomes for patients with pyodermagangrenosum may be expected when using steroids and immunosuppressive agents during the early stage of the disease.

Diagnosis of Pulmonary Tuberculosis: Recent Advances and Diagnostic Algorithms

  • Ryu, Yon Ju
    • Tuberculosis and Respiratory Diseases
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    • v.78 no.2
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    • pp.64-71
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    • 2015
  • Pulmonary tuberculosis (TB) persists as a great public health problem in Korea. Increases in the overall age of the population and the rise of drug-resistant TB have reinforced the need for rapid diagnostic improvements and new modalities to detect TB and drug-resistant TB, as well as to improve TB control. Standard guidelines and recent advances for diagnosing pulmonary TB are summarized in this article. An early and accurate diagnosis of pulmonary TB should be established using chest X-ray, sputum microscopy, culture in both liquid and solid media, and nucleic acid amplification. Chest computed tomography, histopathological examination of biopsy samples, and new molecular diagnostic tests can be used for earlier and improved diagnoses, especially in patients with smear-negative pulmonary TB or clinically-diagnosed TB and drug-resistant TB.

Development of Fault Diagnosis Algorithm using Correlation Analysis and ELM (상관성 분석과 ELM을 이용한 태양광 고장진단 알고리즘 개발)

  • Lim, Jae-Yoon;Ji, Pyeong-Shik
    • The Transactions of the Korean Institute of Electrical Engineers P
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    • v.65 no.3
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    • pp.204-209
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    • 2016
  • It is difficult to establish accurate modeling of PV power system because of various uncertainty. However, it is important work to modeling of PV for fault diagnosis. This paper proposes modeling and fault diagnosis method using correlation analysis and ELM(Extreme Learning Machine). Rather than using total data, we select optimal time interval with higher corelation between PV power and solar irradiation. Also, we use average value during 60 minute to avoid rapid variation of PV power. To show the effectiveness of the proposed method, we performed various experiments by dataset.

Synthetic Bacteria for Therapeutics

  • Lam VO, Phuong N.;Lee, Hyang-Mi;Na, Dokyun
    • Journal of Microbiology and Biotechnology
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    • v.29 no.6
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    • pp.845-855
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    • 2019
  • Synthetic biology builds programmed biological systems for a wide range of purposes such as improving human health, remedying the environment, and boosting the production of valuable chemical substances. In recent years, the rapid development of synthetic biology has enabled synthetic bacterium-based diagnoses and therapeutics superior to traditional methodologies by engaging bacterial sensing of and response to environmental signals inherent in these complex biological systems. Biosynthetic systems have opened a new avenue of disease diagnosis and treatment. In this review, we introduce designed synthetic bacterial systems acting as living therapeutics in the diagnosis and treatment of several diseases. We also discuss the safety and robustness of genetically modified synthetic bacteria inside the human body.

Diagnosis of Helicobacter pylori Infection (헬리코박터 파일로리 감염 진단의 최신 지견)

  • Huh, Cheal Wung;Kim, Byung-Wook
    • The Korean Journal of Gastroenterology
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    • v.72 no.5
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    • pp.229-236
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    • 2018
  • Accurate diagnosis of Helicobacter pylori (H. pylori) infection is mandatory for the effective management of many gastroduodenal diseases. Currently, various diagnostic methods are available for detecting these infections, and the choice of method should take into account the clinical condition, accessibility, advantage, disadvantage, as well as cost-effectiveness. The diagnostic methods are divided into invasive (endoscopic-based) and non-invasive methods. Non-invasive methods included urea breath test, stool antigen test, serology, and molecular methods. Invasive methods included endoscopic imaging, rapid urease test, histology, culture, and molecular methods. In this article, we provide a review of the currently available options and recent advances of various diagnostic methods.

Nanopore Metagenomics Sequencing for Rapid Diagnosis and Characterization of Lily Viruses

  • Lee, Hyo-Jeong;Cho, In-Sook;Jeong, Rae-Dong
    • The Plant Pathology Journal
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    • v.38 no.5
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    • pp.503-512
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    • 2022
  • Lilies (Lilium spp.) are one of the most important ornamental flower crops grown in Korea. Most viral diseases in lilies are transmitted by infected bulbs, which cause serious economic losses due to reduced yields. Various diagnostic techniques and high-throughput sequencing methods have been used to detect lily viruses. According to Oxford Nanopore Technologies (ONT), MinION is a compact and portable sequencing device. In this study, three plant viruses, lily mottle, lily symptomless, and plantago asiatica mosaic virus, were detected in lily samples using the ONT platform. As a result of genome assembly of reads obtained through ONT, 100% coverage and 90.3-93.4% identity were obtained. Thus, we show that the ONT platform is a promising tool for the diagnosis and characterization of viruses that infect crops.