• Title/Summary/Keyword: Disease biomarker

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Blood Biomarkers for Alzheimer's Dementia Diagnosis (알츠하이머성 치매에서 혈액 진단을 위한 바이오마커)

  • Chang-Eun, Park
    • Korean Journal of Clinical Laboratory Science
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    • v.54 no.4
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    • pp.249-255
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    • 2022
  • Alzheimer's disease (AD) represents a major public health concern and has been identified as a research priority. Clinical research evidence supports that the core cerebrospinal fluid (CSF) biomarkers for AD, including amyloid-β (Aβ42), total tau (T-tau), and phosphorylated tau (P-tau), reflect key elements of AD pathophysiology. Nevertheless, advances in the clinical identification of new indicators will be critical not only for the discovery of sensitive, specific, and reliable biomarkers of preclinical AD pathology, but also for the development of tests that facilitate the early detection and differential diagnosis of dementia and disease progression monitoring. The early detection of AD in its presymptomatic stages would represent a great opportunity for earlier therapeutic intervention. The chance of successful treatment would be increased since interventions would be performed before extensive synaptic damage and neuronal loss would have occurred. In this study, the importance of developing an early diagnostic method using cognitive decline biomarkers that can discriminate between normal, mild cognitive impairment (MCI), and AD preclinical stages has been emphasized.

Noninvasive molecular biomarkers for the detection of colorectal cancer

  • Kim, Hye-Jung;Yu, Myeong-Hee;Kim, Ho-Guen;Byun, Jong-Hoe;Lee, Cheolju
    • BMB Reports
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    • v.41 no.10
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    • pp.685-692
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    • 2008
  • Colorectal cancer (CRC) is the third most common malignancy in the world. Because CRC develops slowly from removable precancerous lesions, detection of the disease at an early stage during regular health examinations can reduce both the incidence and mortality of the disease. Although sigmoidoscopy offers significant improvements in the detection rate of CRC, its diagnostic value is limited by its high costs and inconvenience. Therefore, there is a compelling need for the identification of noninvasive biomarkers that can enable earlier detection of CRC. Accordingly, many validation studies have been conducted to evaluate genetic, epigenetic or protein markers that can be detected in the stool or in serum. Currently, the fecal-occult blood test is the most widely used method of screening for CRC. However, advances in genomics and proteomics combined with developments in other relevant fields will lead to the discovery of novel non invasive biomarkers whose usefulness will be tested in larger validation studies. Here, non-invasive molecular biomarkers that are currently used in clinical settings and have the potential for use as CRC biomarkers are discussed.

Non-classical role of Galectin-3 in cancer progression: translocation to nucleus by carbohydrate-recognition independent manner

  • Kim, Seok-Jun;Chun, Kyung-Hee
    • BMB Reports
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    • v.53 no.4
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    • pp.173-180
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    • 2020
  • Galectin-3 is a carbohydrate-binding protein and regulates diverse functions, including cell proliferation and differentiation, mRNA splicing, apoptosis induction, immune surveillance and inflammation, cell adhesion, angiogenesis, and cancer-cell metastasis. Galectin-3 is also recommended as a diagnostic or prognostic biomarker of various diseases, including heart disease, kidney disease, and cancer. Galectin-3 exists as a cytosol, is secreted in extracellular spaces on cells, and is also detected in nuclei. It has been found that galectin-3 has different functions in cellular localization: (i) Extracellular galectin-3 mediates cell attachment and detachment. (ii) cytosolic galectin-3 regulates cell survival by blocking the intrinsic apoptotic pathway, and (iii) nuclear galectin-3 supports the ability of the transcriptional factor for target gene expression. In this review, we focused on the role of galectin-3 on translocation from cytosol to nucleus, because it happens in a way independent of carbohydrate recognition and accelerates cancer progression. We also suggested here that intracellular galecin-3 could be a potent therapeutic target in cancer therapy.

Risk Assessment and Pharmacogenetics in Molecular and Genomic Epidemiology

  • Park, Sue-K.;Choi, Ji-Yeob
    • Journal of Preventive Medicine and Public Health
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    • v.42 no.6
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    • pp.371-376
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    • 2009
  • In this article, we reviewed the literature on risk assessment (RA) models with and without molecular genomic markers and the current utility of the markers in the pharmacogenetic field. Epidemiological risk assessment is applied using statistical models and equations established from current scientific knowledge of risk and disease. Several papers have reported that traditional RA tools have significant limitations in decision-making in management strategies for individuals as predictions of diseases and disease progression are inaccurate. Recently, the model added information on the genetic susceptibility factors that are expected to be most responsible for differences in individual risk. On the continuum of health care, from diagnosis to treatment, pharmacogenetics has been developed based on the accumulated knowledge of human genomic variation involving drug distribution and metabolism and the target of action, which has the potential to facilitate personalized medicine that can avoid therapeutic failure and serious side effects. There are many challenges for the applicability of genomic information in a clinical setting. Current uses of genetic markers for managing drug therapy and issues in the development of a valid biomarker in pharmacogenetics are discussed.

Fabrication of a paper-based ELISA to detect polygalacturonase (Polygalacturonase를 검출하기 위한 종이 기반의 효소결합 면역반응 센서 제작)

  • Hwang, Young-Kug;Kim, Ji-Kwan;Lee, Young Hwan;Choi, Young-Soo
    • Journal of Sensor Science and Technology
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    • v.30 no.5
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    • pp.337-341
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    • 2021
  • In this paper, we describe the fabrication of a paper-based enzyme-linked immunosorbent assay (ELISA) to detect polygalacturonase (PG), which is used as a biomarker to determine whether a plant is infected with a disease. The proposed paper-based ELISA can analyze the concentration of PG in a short time using a small sample compared to the traditional ELISA, which is generally performed using a well plate. To increase the resolution of the sensor, we optimized the dilution ratio of the HRP-conjugated goat anti-rabbit IgG antibody and the dilution ratio of the anti-PG and HRP-conjugated goat anti-rabbit IgG antibodies. Furthermore, for quantitative analysis of PG concentration, Delta RGB analysis was conducted to detect color changes in the sensing window displayed by the PG samples at various concentrations. Based on the experiment, the fabricated paper-based ELISA could measure at least 0.25 ㎍ of PG and the measurement range was 0.25-2 ㎍. Therefore, the paper-based ELISA for detecting PG is expected to be able to determine the presence or absence of disease in crops at the infection stage in the future.

Machine Learning-based Prediction of Relative Regional Air Volume Change from Healthy Human Lung CTs

  • Eunchan Kim;YongHyun Lee;Jiwoong Choi;Byungjoon Yoo;Kum Ju Chae;Chang Hyun Lee
    • KSII Transactions on Internet and Information Systems (TIIS)
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    • v.17 no.2
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    • pp.576-590
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    • 2023
  • Machine learning is widely used in various academic fields, and recently it has been actively applied in the medical research. In the medical field, machine learning is used in a variety of ways, such as speeding up diagnosis, discovering new biomarkers, or discovering latent traits of a disease. In the respiratory field, a relative regional air volume change (RRAVC) map based on quantitative inspiratory and expiratory computed tomography (CT) imaging can be used as a useful functional imaging biomarker for characterizing regional ventilation. In this study, we seek to predict RRAVC using various regular machine learning models such as extreme gradient boosting (XGBoost), light gradient boosting machine (LightGBM), and multi-layer perceptron (MLP). We experimentally show that MLP performs best, followed by XGBoost. We also propose several relative coordinate systems to minimize intersubjective variability. We confirm a significant experimental performance improvement when we apply a subject's relative proportion coordinates over conventional absolute coordinates.

Applications of DNA Microarray in Disease Diagnostics

  • Yoo, Seung-Min;Choi, Jong-Hyun;Lee, Sang-Yup;Yoo, Nae-Choon
    • Journal of Microbiology and Biotechnology
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    • v.19 no.7
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    • pp.635-646
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    • 2009
  • Rapid and accurate diagnosis of diseases is very important for appropriate treatment of patients. Recent advances in molecular-level interaction and detection technologies are upgrading the clinical diagnostics by providing new ways of diagnosis, with higher speed and accuracy. In particular, DNA microarrays can be efficiently used in clinical diagnostics which span from discovery of diseaserelevant genes to diagnosis using its biomarkers. Diagnostic DNA microarrays have been used for genotyping and determination of disease-relevant genes or agents causing diseases, mutation analysis, screening of single nucleotide polymorphisms (SNPs), detection of chromosome abnormalities, and global determination of posttranslational modification. The performance of DNA-microarray-based diagnosis is continuously improving by the integration of other tools. Thus, DNA microarrays will play a central role in clinical diagnostics and will become a gold standard method for disease diagnosis. In this paper, various applications of DNA microarrays in disease diagnosis are reviewed. Special effort was made to cover the information disclosed in the patents so that recent trends and missing applications can be revealed.

Identification of Upregulated APOA1 Protein of Chicken Liver in Pullorum Disease (추백리가 감염된 닭의 간에서 발현이 증가하는 APOA1 단백질의 확인)

  • Jung K. C.;Lee Y. J.;Yu S. L.;Lee J. H.;Jang B. K.;Koo Y. B.;So H. K.;Choi K. D.
    • Korean Journal of Poultry Science
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    • v.32 no.1
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    • pp.23-27
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    • 2005
  • The aim of this study was to investigate differentially expressed proteins between normal chicken liver and chicken liver inffeted by Salmonella pullorum. 2-dimensional electrophoresis (2DE) and mass spectrometry (MS) were used to identify the proteins. More than 300 protein spots were detected on silver stained 2DE gels using pH 3$\~$10 gradients. The most outstanding protein spot was further analyzed by MALDI-TOF MS and protein database using the Mascot search engine. The protein was finally identified as APOAI (Apolipoprotein AI). Based on the known function of the APOAI, this gene acts protective action against the accumulation of platelet thrombin at the site of vascular damage for the pullorum disease. Therefore APOAI protein, identified in this study, can be a valuable biomarker in relation to the pullorum disease in chicken.

Iodine Quantification on Spectral Detector-Based Dual-Energy CT Enterography: Correlation with Crohn's Disease Activity Index and External Validation

  • Kim, Yeon Soo;Kim, Se Hyung;Ryu, Hwa Sung;Han, Joon Koo
    • Korean Journal of Radiology
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    • v.19 no.6
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    • pp.1077-1088
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    • 2018
  • Objective: To correlate CT parameters on detector-based dual-energy CT enterography (DECTE) with Crohn's disease activity index (CDAI) and externally validate quantitative CT parameters. Materials and Methods: Thirty-nine patients with CD were retrospectively enrolled. Two radiologists reviewed DECTE images by consensus for qualitative and quantitative CT features. CT attenuation and iodine concentration for the diseased bowel were also measured. Univariate statistical tests were used to evaluate whether there was a significant difference in CTE features between remission and active groups, on the basis of the CDAI score. Pearson's correlation test and multiple linear regression analyses were used to assess the correlation between quantitative CT parameters and CDAI. For external validation, an additional 33 consecutive patients were recruited. The correlation and concordance rate were calculated between real and estimated CDAI. Results: There were significant differences between remission and active groups in the bowel enhancement pattern, subjective degree of enhancement, mesenteric fat infiltration, comb sign, and obstruction (p < 0.05). Significant correlations were found between CDAI and quantitative CT parameters, including number of lesions (correlation coefficient, r = 0.573), bowel wall thickness (r = 0.477), iodine concentration (r = 0.744), and relative degree of enhancement (r = 0.541; p < 0.05). Iodine concentration remained the sole independent variable associated with CDAI in multivariate analysis (p = 0.001). The linear regression equation for CDAI (y) and iodine concentration (x) was y = 53.549x + 55.111. For validation patients, a significant correlation (r = 0.925; p < 0.001) and high concordance rate (87.9%, 29/33) were observed between real and estimated CDAIs. Conclusion: Iodine concentration, measured on detector-based DECTE, represents a convenient and reproducible biomarker to monitor disease activity in CD.

Importance of CADASIL research in Jeju: a review and update on epidemiology, diagnosis, and clinical spectrum (제주도에서 CADASIL 연구의 중요성: 역학, 진단 및 임상양상에 대한 고찰)

  • Choi, Jay Chol;Lee, Jung Seok;Kim, Kitae
    • Journal of Medicine and Life Science
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    • v.17 no.3
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    • pp.65-73
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    • 2020
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease of the cerebral small blood vessels caused by mutations in the NOTCH3 gene on chromosome 19. Although CADASIL was known as a rare disease, recent research has suggested that the NOTCH variants could be found frequently even in the general population. The main clinical features included recurrent stroke, migraine, psychiatric symptoms, and progressive cognitive decline. On brain magnetic resonance imaging, patients with CADASIL showed multifocal white matter hyperintensity lesions, lacunar infarcts, microbleeds, and brain atrophy. Among them, lacunar infarcts and brain atrophy are important in predicting the clinical outcomes of patients with CADASIL. In the Jeju National University Hospital, we have diagnosed 213 CADASIL patients from 2004 to 2020. Most NOTCH3 mutations were located in exon 11 (94.4%), and p.Arg544Cys was the most common mutation. The mean age at diagnosis was 61.0±12.8 years. The most common presenting symptoms were ischemic stroke (24.4%), followed by cognitive impairment(15.0%), headache (8.9%), and dizziness(8.0%). Although the exact prevalence of CADASIL in Jeju is still unknown, the disease prevalence could be as high as 1% of the population considering the prevalence reported in Taiwan. Therefore, it is necessary to discover efficient biomarkers and genetic tests that can accurately screen and diagnose patients suspected of having CADASIL in this region. Ultimately, it is urgent to explore the exact pathogenesis of the disease to identify leading substances of treatment potential, and for this, multi-disciplinary research through active support from the Jeju provincial government as well as the national government is essential.