• Title/Summary/Keyword: GI disease

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Copy Number Variations in the Human Genome: Potential Source for Individual Diversity and Disease Association Studies

  • Kim, Tae-Min;Yim, Seon-Hee;Chung, Yeun-Jun
    • Genomics & Informatics
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    • v.6 no.1
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    • pp.1-7
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    • 2008
  • The widespread presence of large-scale genomic variations, termed copy number variation (CNVs), has been recently recognized in phenotypically normal individuals. Judging by the growing number of reports on CNVs, it is now evident that these variants contribute significantly to genetic diversity in the human genome. Like single nucleotide polymorphisms (SNPs), CNVs are expected to serve as potential biomarkers for disease susceptibility or drug responses. However, the technical and practical concerns still remain to be tackled. In this review, we examine the current status of CNV DBs and research, including the ongoing efforts of CNV screening in the human genome. We also discuss the characteristics of platforms that are available at the moment and suggest the potential of CNVs in clinical research and application.

Study on the Principle of Diagnosis for the Oneironosus (몽진(夢診)의 원리에 대한 연구)

  • Kang Dong-Yun;Kim Byung-Soo;Kang Jung-Soo
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.19 no.5
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    • pp.1112-1119
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    • 2005
  • The dream is a well-known experience in the routine life. It is necessary to consider the dream to modality of diagnosis because many evidences that the dream represents the physiologic and pathologic changes in the human have been proved in recent days. The oneironosus(病夢) was caused by three factors, which are the external stresses of the body, malfunction of Jang-Bu(臟腑) and irregular of Yin-Yang(陰陽) and Gi-blood(氣血). The oneironosus(病夢) reflects the location, characteristics, progression and prognosis of the disease. In addition, it predicts the development of disease. The principle of treatment for the oneironosus(病夢) is making an effort for the stabilization of mind by eradicating the internal and external factors that make the spirit(神) been unstable.

A Case Report of Chronic Paranasal Sinusitis Who Complains Postnasal Drip (後鼻漏를 主訴로 한 慢性 副鼻洞炎 患者의 治驗 1例)

  • Kim, Chang-hwan;Sun, Young-jae;Lim, Woong-kyoung;Kim, Hyun-gi
    • The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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    • v.16 no.2
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    • pp.244-248
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    • 2003
  • Paranasal sinusitis is a common disease in the otorhinolaryngology area. It is the change of inflammation at the mucous membrane which surrounds paranasal sinus. Chronic paranasal sinusitis is a chronic inflammation disease with purulent, mucous rhinorrhea, postnasal drip and cough. The attacked period continues above three months and it repeats exacerbation and remission. We diagnosed and treated an outpatient who complains postnasal drip of chronic paranasal drip of chronic paranasal sinusitis based on the Oriental medical theories and had good result.

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Relevance Epistasis Network of Gastritis for Intra-chromosomes in the Korea Associated Resource (KARE) Cohort Study

  • Jeong, Hyun-hwan;Sohn, Kyung-Ah
    • Genomics & Informatics
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    • v.12 no.4
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    • pp.216-224
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    • 2014
  • Gastritis is a common but a serious disease with a potential risk of developing carcinoma. Helicobacter pylori infection is reported as the most common cause of gastritis, but other genetic and genomic factors exist, especially single-nucleotide polymorphisms (SNPs). Association studies between SNPs and gastritis disease are important, but results on epistatic interactions from multiple SNPs are rarely found in previous genome-wide association (GWA) studies. In this study, we performed computational GWA case-control studies for gastritis in Korea Associated Resource (KARE) data. By transforming the resulting SNP epistasis network into a gene-gene epistasis network, we also identified potential gene-gene interaction factors that affect the susceptibility to gastritis.

First Report of Fusarium subglutinans Causing Leaf Spot Disease on Cymbidium Orchids in Korea

  • Han, Kyung-Sook;Park, Jong-Han;Back, Chang-Gi;Park, Mi-Jeong
    • Mycobiology
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    • v.43 no.3
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    • pp.343-346
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    • 2015
  • In 2006~2010, leaf spot symptoms, that is, small, yellow spots that turned into dark brown-to-black lesions surrounded by a yellow halo, were observed on Cymbidium spp. in Gongju, Taean, and Gapyeong in Korea. A Fusarium species was continuously isolated from symptomatic leaves; in pathogenicity testing, isolates caused leaf spot symptoms consisting of sunken, dark brown lesions similar to the original ones. The causal pathogen was identified as Fusarium subglutinans based on morphological and translation elongation factor 1-alpha sequence analyses. This is the first report of F. subglutinans as the cause of leaf spot disease in Cymbidium spp. in Korea.

Ultra-rare Disease and Genomics-Driven Precision Medicine

  • Lee, Sangmoon;Choi, Murim
    • Genomics & Informatics
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    • v.14 no.2
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    • pp.42-45
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    • 2016
  • Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis and treatment with personalized or targeted therapies of rare genetic diseases have been reported. Still, there are several obstacles to be overcome for wider application of NGS-based precision medicine, including high sequencing cost, incomplete variant sensitivity and accuracy, practical complexities, and a shortage of available treatment options.

Review of Biological Network Data and Its Applications

  • Yu, Donghyeon;Kim, MinSoo;Xiao, Guanghua;Hwang, Tae Hyun
    • Genomics & Informatics
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    • v.11 no.4
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    • pp.200-210
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    • 2013
  • Studying biological networks, such as protein-protein interactions, is key to understanding complex biological activities. Various types of large-scale biological datasets have been collected and analyzed with high-throughput technologies, including DNA microarray, next-generation sequencing, and the two-hybrid screening system, for this purpose. In this review, we focus on network-based approaches that help in understanding biological systems and identifying biological functions. Accordingly, this paper covers two major topics in network biology: reconstruction of gene regulatory networks and network-based applications, including protein function prediction, disease gene prioritization, and network-based genome-wide association study.

Multi-block Analysis of Genomic Data Using Generalized Canonical Correlation Analysis

  • Jun, Inyoung;Choi, Wooree;Park, Mira
    • Genomics & Informatics
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    • v.16 no.4
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    • pp.33.1-33.9
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    • 2018
  • Recently, there have been many studies in medicine related to genetic analysis. Many genetic studies have been performed to find genes associated with complex diseases. To find out how genes are related to disease, we need to understand not only the simple relationship of genotypes but also the way they are related to phenotype. Multi-block data, which is a summation form of variable sets, is used for enhancing the analysis of the relationships of different blocks. By identifying relationships through a multi-block data form, we can understand the association between the blocks in comprehending the correlation between them. Several statistical analysis methods have been developed to understand the relationship between multi-block data. In this paper, we will use generalized canonical correlation methodology to analyze multi-block data from the Korean Association Resource project, which has a combination of single nucleotide polymorphism blocks, phenotype blocks, and disease blocks.

A Study on the Manual Lymph Drainage and Programs for Specialist: a Literature Review

  • Shim, Jung-myo;Kim, Gi-Cheol;Kim, Seong-jung
    • The Journal of Korean Physical Therapy
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    • v.34 no.4
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    • pp.129-134
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    • 2022
  • It is necessary to produce properly educated Manual Lymph Drainage (MLD) specialists conducted by certified instructors. This study was conducted to introduce a comprehensive understanding, application, historical background, and effect of the MLD and to present a basis for using the frequency MLD as a basic resource for training professional. MLD, a field of manual therapy, is used to treat a variety of diseases such as joint disease, circulatory system disease, lymphedema, and pain et al. However, since there is no proper education for MLD in Korea, there is a need to provide education that meets internationally accepted standards. The Physical Therapists Association and related academic societies will need to prepare a system to train specialists on MLD and to recognize medical insurance through it.

Design of a Wireless Electrical Gate Conductivity Measurment Device (무선 전기성문전도 측정기 설계)

  • Eum, Sang-hee;Kim, Gi-Ryon;Kim, Gwang-nyeon;Nam, Jae-hyun
    • Proceedings of the Korean Institute of Information and Commucation Sciences Conference
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    • 2021.10a
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    • pp.311-312
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    • 2021
  • Measurement technology related to vocal cord disease is in a late state of technology accumulation, and electroglotograph(EGG) measuring equipment is dependent on foreign production. This paper seeks to design a wearable wireless electrical gate conductivity measurement terminal capable of easily measuring and monitoring the vibration state of the vocal cords, that is, the contact pattern of the vocal cords, which is important in vocalization.

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