• 제목/요약/키워드: clinical diagnostics

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The Impact of Transposable Elements in Genome Evolution and Genetic Instability and Their Implications in Various Diseases

  • Ayarpadikannan, Selvam;Kim, Heui-Soo
    • Genomics & Informatics
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    • 제12권3호
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    • pp.98-104
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    • 2014
  • Approximately 45% of the human genome is comprised of transposable elements (TEs). Results from the Human Genome Project have emphasized the biological importance of TEs. Many studies have revealed that TEs are not simply "junk" DNA, but rather, they play various roles in processes, including genome evolution, gene expression regulation, genetic instability, and cancer disposition. The effects of TE insertion in the genome varies from negligible to disease conditions. For the past two decades, many studies have shown that TEs are the causative factors of various genetic disorders and cancer. TEs are a subject of interest worldwide, not only in terms of their clinical aspects but also in basic research, such as evolutionary tracking. Although active TEs contribute to genetic instability and disease states, non-long terminal repeat transposons are well studied, and their roles in these processes have been confirmed. In this review, we will give an overview of the importance of TEs in studying genome evolution and genetic instability, and we suggest that further in-depth studies on the mechanisms related to these phenomena will be useful for both evolutionary tracking and clinical diagnostics.

Methylation of RASSF1A and CDH13 Genes in Individualized Chemotherapy for Patients with Non-small Cell Lung Cancer

  • Zhai, Xu;Li, Shi-Jun
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권12호
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    • pp.4925-4928
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    • 2014
  • Background: This study aimed to evaluate the methylation of RASSF1A and CDH13 gene promoter regions as a marker for monitoring chemotherapeutic efficacy with personalized medicine for patients with NSCLC, in the hope of providing a new direction for NSCLC individualized chemotherapy. Materials and Methods: 42 NSCLC patients and 40 healthy controls were included. Patient blood samples were collected in the whole process of chemotherapy. Methylation of RASSF1A and CDH13 gene promoter regions was detected by the methylation specific polymerase chain reaction (MSP). Results: The rate of RASSF1A and CDH13 gene methylation in 42 cases of NSCLC patients was significantly higher than in 40 healthy controls (52.4% to 0.0%, 54.8% to 0.0%, p<0.05). After the chemotherapy, the hyper-methylation of RASSF1A and CDH13 genes in PR group and SD group decreased significantly (p<0.05), and was significantly different from that in PD group (p<0.05), but not as compared with healthy controls (P>0.05). With chemotherapy, RASSF1A and CDH13 promoter region methylation rate in 42 cases of patients showed a declining trend. Conclusions: The methylation level of RASSF1A and CDH13 gene promoter region can reflect drug sensitivity of tumors to individualized treatment.

Objective and Subjective Voice Examination in Korean Medicine

  • Yu, Junsang
    • 대한약침학회지
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    • 제17권3호
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    • pp.57-61
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    • 2014
  • Objectives: When a person speaks, voice problems usually include pain or discomfort and/or difficulties in terms of the pitch, the loudness and the quality of the voice. When patients with voice problems induced by stroke, Parkinson's disease, and systemic diseases involving the voice are examined, generally, of the Four Diagnoses (四診), a Diagnosis of Hearing can be used in current Korean medicine. The effects of acupuncture and herb medicine on voice problems have been reported for over 20 years. However, when it comes to improvements, objective and subjective evaluation methods need to be explained. Methods: Subjective methods for evaluating voice were studied through a literature search of old medicinal books containing Korean medicine diagnostics, and an objective evaluation method using Praat software is presented. Results: Korean medicine doctors analyze the patient's voice in clinical settings unconsciously on a daily basis. However, most voice diagnoses depend on the doctor's subjective evaluation. Voice qualities can be evaluated by using the Eight Principles (八綱), including Yin-Yang; the Five Elements (Phases); the Grade, Roughness, Breathy, Asthenic, Strained (GRBAS) score, and the Visual Analogue Scale (VAS) as subjective methods, and an acoustic analysis using the Praat program can be used as an objective method. Conclusion: A more complete voice examination can be achieved by using subjective and objective methods at the same time. For an objective explanation and management of patient's voice problems or systemic disorders, an objective method should be used in Korean medicine, which already has many subjective diagnostic methods. More research needs to be conducted, and more clinical evidence needs to be collected in the future.

Molecular Diagnosis for Personalized Target Therapy in Gastric Cancer

  • Cho, Jae Yong
    • Journal of Gastric Cancer
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    • 제13권3호
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    • pp.129-135
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    • 2013
  • Gastric cancer is the second leading cause of cancer-related deaths worldwide. In advanced and metastatic gastric cancer, the conventional chemotherapy with limited efficacy shows an overall survival period of about 10 months. Patient specific and effective treatments known as personalized cancer therapy is of significant importance. Advances in high-throughput technologies such as microarray and next generation sequencing for genes, protein expression profiles and oncogenic signaling pathways have reinforced the discovery of treatment targets and personalized treatments. However, there are numerous challenges from cancer target discoveries to practical clinical benefits. Although there is a flood of biomarkers and target agents, only a minority of patients are tested and treated accordingly. Numerous molecular target agents have been under investigation for gastric cancer. Currently, targets for gastric cancer include the epidermal growth factor receptor family, mesenchymal-epithelial transition factor axis, and the phosphatidylinositol 3-kinase-AKT-mammalian target of rapamycin pathways. Deeper insights of molecular characteristics for gastric cancer has enabled the molecular classification of gastric cancer, the diagnosis of gastric cancer, the prediction of prognosis, the recognition of gastric cancer driver genes, and the discovery of potential therapeutic targets. Not only have we deeper insights for the molecular diversity of gastric cancer, but we have also prospected both affirmative potentials and hurdles to molecular diagnostics. New paradigm of transdisciplinary team science, which is composed of innovative explorations and clinical investigations of oncologists, geneticists, pathologists, biologists, and bio-informaticians, is mandatory to recognize personalized target therapy.

"난경(難經)"의 관격(關格) 인식 (The understanding of Gwan-Gyeok in "Nangyeong")

  • 장우창
    • 대한한의학원전학회지
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    • 제24권6호
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    • pp.15-28
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    • 2011
  • Gwan-Gyeok(關格) is one of the dangerous conditions that can lead to death and is considered important in clinical practice. However its true concept is unclear and arguments on the subject have been diverse over generations. This kind of confusion is largely due to an insufficient understanding of the study results on Nangyeong(難經). In Nangyeong, Gwan-Gyeok is divided into 'in bowels(在腑)' and 'in viscera(在臟) and distinction is made between 'damaged by heat(傷熱)' and 'damaged by dampness(傷濕) thus establishing a broad outline of differentiation of syndrome(辨證). Moreover, the clinical progress is systematically divided into 3 stages thus providing a very useful viewpoint on diagnostics. A sharp perspective on the pathogenesis is also shown by emphasizing the kidney and Myeongmun(命門) through the comparison between cheok pulse(尺) and chon pulse(寸). This point of view in Nangyeong is truly proposing a permanent standard on the understanding of Gwan-Gyeok. Therefore it is the author's hope that this study will work as a start to look back on the flow of the research on Gwan-Gyeok which has been rather confusing since Sanghallon(傷寒論).

맞춤의학 시대의 개인 유전체 서열의 해독과 스마트한 이용 (Individual Genome Sequences and Their Smart Application In Personalized Medicine)

  • 김동민;정해영;김일철;원용관
    • 스마트미디어저널
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    • 제2권4호
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    • pp.34-40
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    • 2013
  • 다양하고 빠른 차세대 유전체 서열 분석기를 사용한 개인 유전체 분석은 생명과학 연구뿐만 아니라 질병의 진단과 치료를 포함하는 의학 분야까지 새로운 지평을 열고 있다. 저렴한 비용으로 읽혀진 개인 유전체 서열은 통합 과정을 거쳐 유전체 이상을 점검할 수 있고, 얻어진 서열 데이터는 유전자 변이성 연구, 유전체 발현 연구, 후성유전학적 연구, 유전체 주석화 등에 이용될 수 있다. 개인 유전체 데이터는 생물학적 연구 결과와 임상 연구 데이터를 연계하여 질환 위험도의 예측과 맞춤 치료에 이용할 수 있게 되었다. 개인 맞춤의학 시대에 전문적 데이터와 일반인 사용자의 간극을 메우기 위해 스마트 미디어 기기와 같은 적극적인 인터페이스의 개발이 시급하다.

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약침 관련 국내 연구 동향분석 (The Analysis of the Recent Research Trend of Pharmacopuncture)

  • 윤정민;김경한;오용택;김종욱;육태한
    • 대한예방한의학회지
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    • 제22권2호
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    • pp.55-63
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    • 2018
  • Objectives : This study was conducted to survey on the research trends of Pharmacopuncture in Korea. Methods : We searched Korean research database by using keyword 'Pharmacopuncture', 'Bee venom'. Korean research databases were Korean Studies Information Service System(KISS), Research Information Service System(RISS), National Digital Science Library(NDSL) and Korean Medicine Information System(OASIS). We classified articles identified by publish year, type of research and diseases. Results : We analyzed 533 studies. Clinical studies and non-clinical studies except literature studies were decreased from 2015. However, Literature studies had not shown particular change over the past decade. Pharmacopuncture treated disease was classified by Korean standard classification of disease(KCD), M-code (37.8%), G-code(18.4%) were frequently used. Conclusions : A variety of disease was treated by pharmacopuncture. It is necessary to increase the level of evidence of pharmacopuncture. through additional studies in the future.

Clinical evaluation of a rapid diagnostic test kit for detection of canine coronavirus

  • Yoon, Seung-Jae;Seo, Kyoung-Won;Song, Kun-Ho
    • 대한수의학회지
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    • 제58권1호
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    • pp.27-31
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    • 2018
  • Canine coronavirus is a single-stranded RNA virus that causes enteritis in dogs of any age. Coronaviral enteritis is seldom definitively diagnosed, since it is usually much less severe than many other types of enteritis and is self-limiting. Conventional diagnostics for the canine coronaviral enteritis such as polymerase chain reaction (PCR), virus isolation, and electron microscopic examination are inappropriate for small animal clinics due to the complicated experimental processes involved. Therefore, a commercially available lateral flow test kit based on chromatographic immunoassay techniques was tested to evaluate its performance as a first-line diagnostic test kit that could be used in clinics. The coronavirus antigen test kit detected canine coronavirus-infected dogs with 93.1% sensitivity and 97.5% specificity. The detection limit of the test kit was between $1.97{\times}10^4/mL$ and $9.85{\times}10^3/mL$ for samples with a 2-fold serial dilution from $1.25{\times}10^6\;TCID_{50}$ ($TCID_{50}$, 50% tissue culture infectious dose). Additionally, the test kit had no cross-reactivity with canine parvovirus, distemper virus, or Escherichia coli. Overall, the commercially available test kit showed good diagnostic performance in a clinical setting, with results similar to those from PCR, confirming their potential for convenient and accurate use in small animal clinics.

음식섭취에 따른 좌우(左右) 촌관척(寸關尺) 6부위 맥압 변화 연구 (The Effect of Food Intakes on Radial Pulse Amplitude)

  • 임윤경;강희정;이병렬;양기영;이현;김경철
    • Korean Journal of Acupuncture
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    • 제28권2호
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    • pp.13-22
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    • 2011
  • Objectives : The purpose of this study is to investigate the effect of food intake on radial pulse amplitude. Methods : Thirty one healthy male subjects participated in this study. Radial pulse was measured using 3 dimensional pulse imaging system (DMP-3000) before, right after, 40 minutes after, 80 minutes after and 120 minutes after food intake. Results : 1. The amplitude of h1 increased significantly right after food intake compared to 'before food intake' at all 6 measuring points. Later on, it decreased back as time passed, however, even 120 minutes later, it was still higher than 'before food intake' 2. Pulse energy, which is calculated from pulse waves acquired with five sensors, increased after food intake as well. Conclusions : Food intake exerts an influence on radial pulse amplitude, resulting in increase of h1 and pulse energy.

Genetic Polymorphisms of GSTM1 and GSTT1 Genes in Delhi and Comparison with other Indian and Global Populations

  • Sharma, Anita;Pandey, Arvind;Sardana, Sarita;Sehgal, Ashok;Sharma, Joginder K.
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권11호
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    • pp.5647-5652
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    • 2012
  • The glutathione S-transferases (GSTs) are involved in the metabolism of many xenobiotics, including an array of environmental carcinogens, pollutants, and drugs. Genetic polymorphisms in these genes may lead to inter-individual variation in susceptibility to various diseases. In the present study, GSTM1 and GSTT1 polymorphisms were analysed using a multiplex polymerase chain reaction in 500 normal individuals from Delhi. The frequency of individuals with GSTM1 and GSTT1 null genotypes were 168 (33.6%) and 62 (12.4%) respectively, and 54(10.8%) were having homozygous null genotype for both the genes GSTM1 and GSTT1simultaneously. The studied population was compared with reported frequencies from other neighbouring state populations, as well as with those from other ethnic groups; Europeans, Blacks, and Asians. The prevalence of homozygous null GSTM1 genotype is significantly higher in Caucasians and Asians as compared to Indian population. The frequency of GSTT1 homozygous null genotypes is also significantly higher in blacks and Asians. We believe that due to large number of individuals in this study, our results are reliable estimates of the frequencies of the GSTM1, GSTT1 in Delhi. It would provide a basic database for future clinical and genetic studies pertaining to susceptibility and inconsistency in the response and/or toxicity to drugs known to be the substrates for GSTs.