• 제목/요약/키워드: DNA diagnostic test

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The Necessity of Education in Response to Technological Advancements and Future Environmental Changes: A Comparison of Korean Medicine Doctors and Students

  • Yu Seong Park;Kyeong Heon Lee;Hye In Jeong;Kyeong Han Kim
    • 대한한의학회지
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    • 제44권4호
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    • pp.72-86
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    • 2023
  • Objectives: The medical field is rapidly evolving with AI and digital technologies like AI-based X-ray analysis and digital therapeutics gaining approval. Telemedicine is becoming prominent, and medical schools are adapting by integrating AI education. Pusan National University leads a talent training project for AI in health. Korean Medicine is incorporating AI with diagnostic systems and chatbots. However, there's a lack of research on education awareness in Korean Medicine Colleges. The study aims to assess opinions on integrating AI, digital therapeutics, and DNA test into the Korean medicine college curriculum for improved education. Methods: We selected appropriate four specific areas: artificial intelligence in medicine, digital therapeutics, DNA test, and telemedicine. The questionnaire developed for this study underwent expert evaluation and was subsequently administered to registered KMDs of the Association of Korean Medicine, as well as students from 12 Korean Medicine universities. The survey was designed to analyze the awareness and perceived importance of the 4 areas. Results: Both KMDs and Korean medicine students exhibited comparable awareness levels across the four objectives. Notably, both groups identified a high educational necessity and importance of artificial intelligence in medicine for clinical settings. Statistically significant differences were observed between KMDs and students in their perspectives on the importance of telemedicine and DNA test in the Korean medicine field, the educational necessity of DNA test within Korean medicine universities, and the need for comprehension of regulations related to digital therapeutics. Conclusion: The survey of Korean medicine professionals and students underscores a strong understanding of key areas such as Telemedicine, medical AI, DNA test, and digital therapeutics. Medical AI is identified as crucial for future education. There's a consensus on the need for curriculum changes in Korean medicine schools, particularly in adapting to evolving healthcare trends. The focus should be on practical clinical application, with a call for additional research to better integrate student and practitioner perspectives in future curriculum reform discussions.

Multifaceted Usage of HPV Related Tests and Products in the Management of Cervical Cancer - a Review

  • Nalliah, Sivalingam;Karikalan, Barani;Kademane, Kumaraswamy
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권6호
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    • pp.2145-2150
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    • 2015
  • HPV viruses are integral to the development of cervical cancer. The pathogenesis has been extensively studied. To date, numerous HPV tests and products have been developed and successfully utilized in diagnosis, treatment and prevention of cervical cancer. The HPV DNA test, when combined with other routine cervical cancer screening and diagnostic tests namely exfoliative cytology, visual inspection with acetic acid (VIA) and colposcopy has increased the detection rate of cervical cancer. HPV DNA products could also be measured in other body fluids like urine, lymph node tissue, and serum. HPV association could also be quantified by measuring other parameters like HPV mRNA, viral load, viral integration and methylation status. Vaccination against HPV has been found to decrease the incidence of cervical cancer. Further, therapeutic vaccines for cervical cancer against HPV continue to evolve. All these findings pertaining to HPV could possibly decrease the incidence of cervical cancer in the near future. This review aims to give an overview of the HPV tests and products in use and those under trial currently.

Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell-free fetal DNA in maternal plasma: The first clinical experience in Korea

  • Han, Sung-Hee;Yang, Young-Ho;Ryu, Jae-Song;Kang, Myung-Soo;Kim, Young-Jin;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • 제12권2호
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    • pp.85-91
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    • 2015
  • Purpose: Noninvasive prenatal test (NIPT) by massively parallel sequencing (MPS) of cell-free fetal DNA in maternal plasma marks a significant advancement in prenatal screening, minimizing the need for invasive testing of fetal chromosomal aneuploidies. Here, we report the initial clinical performance of NIPT in Korean pregnant women. Materials and Methods: MPS-based NIPT was performed on 910 cases; 5 mL blood samples were collected and sequenced in the Shenzhen BGI Genomic Laboratory to identify aneuploidies. The risk of fetal aneuploidy was determined by L-score and t-score, and classified as high or low. The NIPT results were validated by karyotyping for the high-risk cases and neonatal follow-up for low-risk cases. Results: NIPT was mainly requested for two clinical indications: abnormal biochemical serum-screening result (54.3%) and advanced maternal age (31.4%). Among 494 cases with abnormal biochemical serum-screening results, NIPT detected only 9 (1.8%) high-risk cases. Sixteen cases (1.8%) of 910 had a high risk for aneuploidy: 8 for trisomy 21, 2 for trisomy 18, 1 for trisomy 13, and 5 for sex chromosome abnormalities. Amniocentesis was performed for 7 of these cases (43.8%). In the karyotyping and neonatal data, no false positive or negative results were observed in our study. Conclusion: MPS-based NIPT detects fetal chromosomal aneuploidies with high accuracy. Introduction of NIPT as into clinical settings could prevent about 98% of unnecessary invasive diagnostic procedures.

Polymerase chain reaction을 이용한 실험적 감염 돼지의 혈액과 조직으로부터 Toxoplasma gondii 검출 (Detection of Toxoplasma gondii in experimentally infected porcine blood and tissues by polymerase chain reaction)

  • 신명득;신기욱
    • 대한수의학회지
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    • 제41권1호
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    • pp.89-98
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    • 2001
  • This study was conducted to detect the toxoplasma specific-DNA in circulating blood and organs collected from slaughtered pigs at slaughtering house and experimentally infected pigs with Toxoplasma gondii tachyzoites by polymerase chain reaction(PCR), and also PCR was applied to diagnose for acute phase of swine toxoplasmosis as a newly developed diagnostic test. The sensitivity of oligonucleotide primer, T-1 & T-2, designed from toxoplasma B1 gene amplification method was compared with Tp parasite detection by mouse inoculation(MI). On the other hand, latex agglutination test(LAT) was conducted to detect the serum antibodies comparing with the detection of toxoplasma by PCR and MI. The results obtained were summarized as follows. PCR was able to determine at the lowest level of $10^0/ml$ T. gondii in blood samples which were blended with a serial diluted T gondii in vitro. On the other hand, $10^2/5g$ of T gondii could detect from a variety of tissues including lung, diaphragm, liver, heart, spleen and brain in vitro. The primer was proved to specifically determine T gondii in blood and tissues in vitro but it did not detect Neospora caninum used as a negative control. DNA of T. gondii was effectively extracted by freezing, thawing and grinding twice both tissues mixed with T gondii in vitro and in experimentally infected pig's tissues. PCR detected specific DNA in the blood of experimentally infected pigs at 108 hrs and 120 hrs post-infection, it was the same time that the pigs showed fever and parasitaemia. In case of tissue, specific DNA was, however, detected only lung from experimentally infected pigs. Even though the duration of acute phase was from 3 to 7 days post-infection, but the latex agglutination test (LAT) results appeared from 8 days post-infection. A comparison of sensitivity in determining T gondii in blood samples between PCR and MI, PCR positive rate ranged from 25 to 33.3%, but that of MI covered from 75 to 100%.

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Different Real Time PCR Approaches for the Fine Quantification of SNP's Alleles in DNA Pools: Assays Development, Characterization and Pre-validation

  • Mattarucchi, Elia;Marsoni, Milena;Binelli, Giorgio;Passi, Alberto;Lo Curto, Francesco;Pasquali, Francesco;Porta, Giovanni
    • BMB Reports
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    • 제38권5호
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    • pp.555-562
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    • 2005
  • Single nucleotide polymorphisms (SNPs) are becoming the most common type of markers used in genetic analysis. In the present report a SNP has been chosen to test the applicability of Real Time PCR to discriminate and quantify SNPs alleles on DNA pools. Amplification Refractory Mutation System (ARMS) and Mismatch Amplification Mutation Assay (MAMA) has been applied. Each assay has been pre-validated testing specificity and performances (linearity, PCR efficiency, interference limit, limit of detection, limit of quantification, precision and accuracy). Both the approaches achieve a precise and accurate estimation of the allele frequencies on pooled DNA samples in the range from 5% to 95% and don't require standard curves or calibrators. The lowest measurement that could be significantly distinguished from the background noise has been determined around the 1% for both the approaches, allowing to extend the range of quantifications from 1% to 99%. Furthermore applicability of Real Time PCR assays for general diagnostic purposes is discussed.

Digoxigenin-labeled in situ Hybridization을 이용한 오제스키병의 진단 (Digoxigenin-labeled in situ Hybridization for Diagnosis of Aujeszky's disease in Pigs)

  • 김순복;문운경;송근석;여상건
    • 한국수의병리학회지
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    • 제1권2호
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    • pp.119-124
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    • 1997
  • The objective of this study was to develop digoxigenin (DIG)-labeled in situ hybridization (ISH) test for diagnosis of Aujeszky's Disease(AD) in infected organs. Specific DNA with well conserved gene sequences encoding gp50 antigen in AD virus (ADV) was obtained by Polymerase Chain Reaction (PCR) method. A pair of oligonucleotide primers used in PCR allowed amplification of a 217 bp sequence from the gp50 ADV gene. The DNA was then labeled with DIG by primer labeling method for use as probe in ISH test to detect ADV nucleic acids in various tissue. Positive hybridization was demonstrated by dark pigmentation in nuclei and cytoplasm of ADV infected cells particularly in brain tonsillar crypt epithelium and pulmonary alveolar cells. This result suggests that ISH is a valuable sensitive and rapid diagnostic test for AD.

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Aberrant Methylation of Genes in Sputum Samples as Diagnostic Biomarkers for Non-small Cell Lung Cancer: a Meta-analysis

  • Wang, Xu;Ling, Li;Su, Hong;Cheng, Jian;Jin, Liu
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권11호
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    • pp.4467-4474
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    • 2014
  • Background: We aimed to comprehensively review the evidence for using sputum DNA to detect non-small cell lung cancer (NSCLC). Materials and Methods: We searched PubMed, Science Direct, Web of Science, Chinese Biological Medicine (CBM), Chinese National Knowledge Infrastructure (CNKI), Wanfang, Vip Databases and Google Scholar from 2003 to 2013. The meta-analysis was carried out using a random-effect model with sensitivity, specificity, diagnostic odd ratios (DOR), summary receiver operating characteristic curves (ROC curves), area under the curve (AUC), and 95% confidence intervals (CI) as effect measurements. Results: There were twenty-two studies meeting the inclusion criteria for the meta-analysis. Combined sensitivity and specificity were 0.62 (95%CI: 0.59-0.65) and 0.73 (95%CI: 0.70-0.75), respectively. The DOR was 10.3 (95%CI: 5.88-18.1) and the AUC was 0.78. Conclusions: The overall accuracy of the test was currently not strong enough for the detection of NSCLC for clinical application. Dscovery and evaluation of additional biomarkers with improved sensitivity and specificity from studies rated high quality deserve further attention.

리증후군에서의 혈장 아미노산 및 소변 유기산 분석 (Plasma Amino Acid and Urine Organic Acid Analyses in Leigh Syndrome)

  • 나지훈;이현주;이해인;허이라;이영목
    • 대한유전성대사질환학회지
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    • 제22권1호
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    • pp.28-36
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    • 2022
  • 목적: 혈장 아미노산(PAA) 및 소변 유기산(UOA) 분석에서 비정상적인 대사 산물의 검출은 리 증후군과 같은 임상 미토콘드리아 질환을 진단하는 데 사용되었다. 본 연구에서는 PAA 및 UOA 분석의 진단적 가치와 유효성을 검토하였다. 방법: 이 논문은 2003년에서 2018년 사이에 단일 3차 진료 센터에서 진단된 리 증후군 환자에 대상으로 후향적 연구로 진행되었다. 전체 미토콘드리아 시퀀싱 및 핵 DNA 관련 미토콘드리아 유전자 패널 분석을 통해 미토콘드리아 DNA (mtDNA) 돌연변이 관련 리 증후군에 대해 19명의 환자가 양성이었고 57명의 환자는 음성인 것으로 밝혀졌다. 그 이후에 PAA 및 UOA 분석 결과를 비교하였다. 결과: 두 그룹 간의 PAA 및 UOA 분석 결과를 비교한 결과, mtDNA 돌연변이 양성 Leigh 증후군과 mtDNA 돌연변이 음성 Leigh 증후군 그룹 간에 비정상적인 대사 산물은 뚜렷한 차이를 보이지 않았다. 결론: PAA 및 UOA 분석은 리 증후군을 진단하거나 mtDNA 돌연변이 관련 리 증후군을 선별하기 위한 부적절한 검사 방법이다. 그러나 UOA 분석은 여전히 리 증후군에 대한 적합한 선별 검사일 수 있다.

유전성 대사질환의 임상증상과 진단 (Diagnosis of inherited metabolic disorders based on their diverse clinical features and laboratory tests)

  • 유한욱
    • Clinical and Experimental Pediatrics
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    • 제49권11호
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    • pp.1140-1151
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    • 2006
  • Inherited metabolic disorders are individually rare but as a whole, they are nor rare. Since Archibald Garrod introduced a concept of "inborn error of metabolism" or "chemical individuality", more than 500 diseases are currently known, affecting approximately one in 500 newborns cumulatively. They frequently manifest with acute, life-threatening crisis that require immediate specific intervention or they present with insidious diverse symptoms and signs involving multiple visceral organs or tissues as well as central nervous system, hampering a correct diagnosis. In addition, many pediatricians are not familiar with all diagnostic and therapeutic strategies for diverse inherited metabolic disorders. However, the prognosis of affected children are heavily dependent on rapid and effective treatment. In this lecture, practical guidelines for the specific diagnosis based on diverse clinical features of inherited metabolic disorders will be described. Many sophisticated laboratory tests are available for confirmatory diagnosis of each disease, which challenge to general pediatricians with respect to knowledge about biochemical metabolite assay test, enzymatic test and DNA diagnostic tests. Sample collections, indications, methods and interpretation of results in varying laboratory tests will be listed as well.

유전성 대사질환의 임상증상과 진단 (Diagnosis of Inherited Metabolic Disorders Based on Their Diverse Clinical Features and laboratory Tests)

  • 유한욱
    • 대한유전성대사질환학회지
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    • 제13권1호
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    • pp.1-19
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    • 2013
  • Inherited metabolic disorders are individually rare but as a whole, they are nor rare. Since Archibald Garrod introduced a concept of "inborn error of metabolism" or "chemical individuality", more than 600 diseases are currently known, affecting approximately one in 500 newborns cumulatively. They frequently manifest with acute, life-threatening crisis that requires immediate specific intervention or they present with insidious diverse symptoms and signs involving multiple visceral organs or tissues as well as central nervous system, hampering a correct diagnosis. In addition, many pediatricians are not familiar with all diagnostic and therapeutic strategies for diverse inherited metabolic disorders. However, the prognosis of affected children are heavily dependent on rapid and effective treatment. In this lecture, practical guidelines for the specific diagnosis based on diverse clinical features of inherited metabolic disorders will be described. Many sophisticated laboratory tests are available for the confirmatory diagnosis of each disease, which is challenging to general pediatricians with respect to knowledge about biochemical metabolite assay test, enzymatic test and DNA diagnostic tests. Sample collections, indications, methods and interpretation of results in varying laboratory tests will be listed as well.

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