• Title/Summary/Keyword: Laboratory markers

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Improvement of the Discrimination Capacity through the Expansion of Y Chromosomal STR Markers

  • Dong Gyu Lee;So Eun Lee;Ji Hwan Park;Si-Keun Lim;Ju Yeon Jung
    • Biomedical Science Letters
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    • v.29 no.4
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    • pp.302-313
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    • 2023
  • Y chromosomal short tandem repeat (Y-STR) markers have been developed continuously to complement forensic DNA analyses and population genetic studies. Initially, we collected data from previously reported Korean population Y-STR haplotype studies on 1133 individuals. We then conducted a marker expansion analysis using a dataset from the Y-STR Haplotype Reference Database (YHRD), covering up to 29 Y-STRs, referred to as Ymax. Additionally, we examined the impact of rapidly mutating (RM) Y-STRs included in this expanded marker set on the discrimination capacity. We observed that marker expansions both with (0.9896), and without (0.9510), RM Y-STR improved the discrimination capacity. Subsequently, we focused on 16 individuals belonging to seven distinct groups sharing identical haplotypes. These particular haplotypes had been previously identified among 476 unrelated males using 23 Y-STR markers from the PowerPlex® Y23 System. We expanded the marker panel up to Ymax to explore how discrimination improved with an expansion of Y-STR markers for these 16 individuals. Among the expanded markers, DYS627, which had high discriminatory power, had a high mutation rate (1.10 × 10-2) and high gene diversity (0.83). In contrast, DYF387S1 displayed high gene diversity (0.95) but a relatively low mutation rate (2.80 × 10-3). We propose that these findings will be valuable in the selection of suitable Y-STR markers, depending on the objectives of forensic analyses. Additionally, the presence of frequently observed Y-haplotypes in Korean population will facilitate statistical interpretation in Y-STR DNA profiling.

Collection of Korean Audio-video Speech Data

  • Jo, Cheol-Woo;Goecke, Roland;Millar, Bruce
    • Speech Sciences
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    • v.7 no.1
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    • pp.5-15
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    • 2000
  • In this paper a detailed description of collecting Korean audio-video speech data is presented. The main aim of this experiment is to collect some audio-video materials which can be used for later experiments to estimate and model the actions of the visible human articulatory organs such as mouth, lips and jaw. We collect audio-video data from seven directions separately. Twelve markers are used to trace the movements.

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Resveratrol pretreatment alleviates NLRP3 inflammasome-mediated cardiomyocyte pyroptosis by targeting TLR4/MyD88/NF-κB signaling cascade in coronary microembolization-induced myocardial damage

  • Chang-Jun Luo;Tao Li;Hao-Liang Li;You Zhou;Lang Li
    • The Korean Journal of Physiology and Pharmacology
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    • v.27 no.2
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    • pp.143-155
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    • 2023
  • Percutaneous coronary intervention and acute coronary syndrome are both closely tied to the frequently occurring complication of coronary microembolization (CME). Resveratrol (RES) has been shown to have a substantial cardioprotective influence in a variety of cardiac diseases, though its function and potential mechanistic involvement in CME are still unclear. The forty Sprague-Dawley rats were divided into four groups randomly: CME, CME + RES (25 mg/kg), CME + RES (50 mg/kg), and sham (10 rats per group). The CME model was developed. Echocardiography, levels of myocardial injury markers in the serum, and histopathology of the myocardium were used to assess the function of the cardiac muscle. For the detection of the signaling of TLR4/MyD88/NF-κB along with the expression of pyroptosis-related molecules, ELISA, qRT-PCR, immunofluorescence, and Western blotting were used, among other techniques. The findings revealed that myocardial injury and pyroptosis occurred in the myocardium following CME, with a decreased function of cardiac, increased levels of serum myocardial injury markers, increased area of microinfarct, as well as a rise in the expression levels of pyroptosis-related molecules. In addition to this, pretreatment with resveratrol reduced the severity of myocardial injury after CME by improving cardiac dysfunction, decreasing serum myocardial injury markers, decreasing microinfarct area, and decreasing cardiomyocyte pyroptosis, primarily by blocking the signaling of TLR4/MyD88/NF-κB and also reducing the NLRP3 inflammasome activation. Resveratrol may be able to alleviate CME-induced myocardial pyroptosis and cardiac dysfunction by impeding the activation of NLRP3 inflammasome and the signaling pathway of TLR4/MyD88/NF-κB.

Validation of QF-PCR for Rapid Prenatal Diagnosis of Common Chromosomal Aneuploidies in Korea

  • Han, Sung-Hee;Ryu, Jae-Song;An, Jeong-Wook;Park, Ok-Kyoung;Yoon, Hye-Ryoung;Yang, Young-Ho;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • v.7 no.1
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    • pp.59-66
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    • 2010
  • Purpose: Quantitative fluorescent polymerase chain reaction (QF-PCR) allows for the rapid prenatal diagnosis of common aneuploidies. The main advantages of this assay are its low cost, speed, and automation, allowing for large-scale application. However, despite these advantages, it is not a routine method for prenatal aneuploidy screening in Korea. Our objective in the present study was to validate the performance of QF-PCR using short tandem repeat (STR) markers in a Korean population as a means for rapid prenatal diagnosis. Material and Methods: A QF-PCR assay using an Elucigene kit (Gen-Probe, Abingdon, UK), containing 20 STR markers located on chromosomes 13, 18, 21, X and Y, was performed on 847 amniotic fluid (AF) samples for prenatal aneuploidy screening referred for prenatal aneuploidy screening from 2007 to 2009. The results were then compared to those obtained using conventional cytogenetic analysis. To evaluate the informativity of STR markers, the heterozygosity index of each marker was determined in all the samples. Results: Three autosomes (13, 18, and 21) and X and Y chromosome aneuploidies were detected in 19 cases (2.2%, 19/847) after QF-PCR analysis of the 847 AF samples. Their results are identical to those of conventional cytogenetic analysis, with 100% positive predictive value. However, after cytogenetic analysis, 7 cases (0.8%, 7/847) were found to have 5 balanced and 2 unbalanced chromosomal abnormalities that were not detected by QF-PCR. The STR markers had a slightly low heterozygosity index (average: 0.76) compared to those reported in Caucasians (average: 0.80). Submicroscopic duplication of D13S634 marker, which might be a unique finding in Koreans, was detected in 1.4% (12/847) of the samples in the present study. Conclusion: A QF-PCR assay for prenatal aneuploidy screening was validated in our institution and proved to be efficient and reliable. However, we suggest that each laboratory must perform an independent validation test for each STR marker in order to develop interpretation guidelines of the results and must integrate QF-PCR into the routine cytogenetic laboratory workflow.

Neutrophil to Lymphocyte Ratio and Serum Biomarkers : A Potential Tool for Prediction of Clinically Relevant Cerebral Vasospasm after Aneurysmal Subarachnoid Hemorrhage

  • Osman Kula;Burak Gunay;Merve Yaren Kayabas;Yener Akturk;Ezgi Kula;Banu Tutunculer;Necdet Sut;Serdar Solak
    • Journal of Korean Neurosurgical Society
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    • v.66 no.6
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    • pp.681-689
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    • 2023
  • Objective : Subarachnoid hemorrhage (SAH) is a condition characterized by bleeding in the subarachnoid space, often resulting from the rupture of a cerebral aneurysm. Delayed cerebral ischemia caused by vasospasm is a significant cause of mortality and morbidity in SAH patients, and inflammatory markers such as systemic inflammatory response index (SIRI), systemic inflammatory index (SII), neutrophil-to-lymphocyte ratio (NLR), and derived NLR (dNLR) have shown potential in predicting clinical vasospasm and outcomes in SAH patients. This article aims to investigate the relationship between inflammatory markers and cerebral vasospasm after aneurysmatic SAH (aSAH) and evaluate the predictive value of various indices, including SIRI, SII, NLR, and dNLR, in predicting clinical vasospasm. Methods : A retrospective analysis was performed on a cohort of 96 patients who met the inclusion criteria out of a total of 139 patients admitted Trakya University Hospital with a confirmed diagnosis of aSAH between January 2013 and December 2021. Diagnostic procedures, neurological examinations, and laboratory tests were performed to assess the patients' condition. The Student's t-test compared age variables, while the chi-square test compared categorical variables between the non-vasospasm (NVS) and vasospasm (VS) groups. Receiver operating characteristic (ROC) curve analyses were used to evaluate the diagnostic accuracy of laboratory parameters, calculating the area under the ROC curve, cut-off values, sensitivity, and specificity. A significance level of p<0.05 was considered statistically significant. Results : The study included 96 patients divided into two groups : NVS and VS. Various laboratory parameters, such as NLR, SII, and dNLR, were measured daily for 15 days, and statistically significant differences were found in NLR on 7 days, with specific cut-off values identified for each day. SII showed a significant difference on day 9, while dNLR had significant differences on days 2, 4, and 9. Graphs depicting the values of these markers for each day are provided. Conclusion : Neuroinflammatory biomarkers, when used alongside radiology and scoring scales, can aid in predicting prognosis, determining severity and treatment decisions for aSAH, and further studies with larger patient groups are needed to gain more insights.

Multiplex Real-time PCR for RRM1, XRCC1, TUBB3 and TS mRNA for Prediction of Response of Non-small Cell Lung Cancer to Chemoradiotherapy

  • Wu, Guo-Qiu;Liu, Nan-Nan;Xue, Xiu-Lei;Cai, Li-Ting;Zhang, Chen;Qu, Qing-Rong;Yan, Xue-Jiao
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.10
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    • pp.4153-4158
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    • 2014
  • Background: This study was aimed to establish a novel method to simultaneously detect expression of four genes, ribonucleotide reductase subunit M1(RRM1), X-ray repair cross-complementing gene 1 (XRCC1), thymidylate synthase (TS) and class III ${\beta}$-tubulin (TUBB3), and to assess their application in the clinic for prediction of response of non-small cell lung cancer (NSCLC) to chemoradiotherapy. Materials and Methods: We have designed four gene molecular beacon (MB) probes for multiplex quantitative real-time polymerase chain reactions to examine RRM1, XRCC1, TUBB3 and TS mRNA expression in paraffin-embedded specimens from 50 patients with advanced or metastatic carcinomas. Twenty one NSCLC patients receiving cisplatin-based first-line treatment were analyzed. Results: These molecular beacon probes could specially bind to their target genes in homogeneous solutions. Patients with low RRM1 and XRCC1 mRNA levels were found to have apparently higher response rates to chemoradiotherapy compared with those with high levels of RRM1 and XRCC1 expression (p<0.05). The TS gene expression level was not significantly associated with chemotherapy response (p>0.05). Conclusions: A method of simultaneously detecting four molecular markers was successfully established and applied for evaluation of chemoradiotherapy response. It may be a useful tool in personalized cancer therapy.

Passive 3D motion optical data in shaking table tests of a SRG-reinforced masonry wall

  • De Canio, Gerardo;de Felice, Gianmarco;De Santis, Stefano;Giocoli, Alessandro;Mongelli, Marialuisa;Paolacci, Fabrizio;Roselli, Ivan
    • Earthquakes and Structures
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    • v.10 no.1
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    • pp.53-71
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    • 2016
  • Unconventional computer vision and image processing techniques offer significant advantages for experimental applications to shaking table testing, as they allow the overcoming of most typical problems of traditional sensors, such as encumbrance, limitations in the number of devices, range restrictions and risk of damage of the instruments in case of specimen failure. In this study, a 3D motion optical system was applied to analyze shake table tests carried out, up to failure, on a natural-scale masonry structure retrofitted with steel reinforced grout (SRG). The system makes use of wireless passive spherical retro-reflecting markers positioned on several points of the specimen, whose spatial displacements are recorded by near-infrared digital cameras. Analyses in the time domain allowed the monitoring of the deformations of the wall and of crack development through a displacement data processing (DDP) procedure implemented ad hoc. Fundamental frequencies and modal shapes were calculated in the frequency domain through an integrated methodology of experimental/operational modal analysis (EMA/OMA) techniques with 3D finite element analysis (FEA). Meaningful information on the structural response (e.g., displacements, damage development, and dynamic properties) were obtained, profitably integrating the results from conventional measurements. Furthermore, the comparison between 3D motion system and traditional instruments (i.e., displacement transducers and accelerometers) permitted a mutual validation of both experimental data and measurement methods.

Intraoral scanning of the edentulous jaw without additional markers: An in vivo validation study on scanning precision and registration of an intraoral scan with a cone-beam computed tomography scan

  • Julie Tilly Deferm;Frank Baan;Johan Nijsink;Luc Verhamme;Thomas Maal;Gert Meijer
    • Imaging Science in Dentistry
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    • v.53 no.1
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    • pp.21-26
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    • 2023
  • Purpose: A fully digital approach to oral prosthodontic rehabilitation requires the possibility of combining (i.e., registering) digital documentation from different sources. This becomes more complex in an edentulous jaw, as fixed dental markers to perform reliable registration are lacking. This validation study aimed to evaluate the reproducibility of 1) intraoral scanning and 2) soft tissue-based registration of an intraoral scan with a cone-beam computed tomography (CBCT) scan for a fully edentulous upper jaw. Materials and Methods: Two observers independently performed intraoral scans of the upper jaw in 14 fully edentulous patients. The palatal vault of both surface models was aligned, and the inter-observer variability was assessed by calculating the mean inter-surface distance at the level of the alveolar crest. Additionally, a CBCT scan of all patients was obtained and a soft tissue surface model was generated using patient-specific gray values. This CBCT soft tissue model was registered with the intraoral scans of both observers, and the intraclass correlation coefficient(ICC) was calculated to evaluate the reproducibility of the registration method. Results: The mean inter-observer deviation when performing an intraoral scan of the fully edentulous upper jaw was 0.10±0.09 mm. The inter-observer agreement for the soft tissue-based registration method was excellent(ICC=0.94; 95% confidence interval, 0.81-0.98). Conclusion: Even when teeth are lacking, intraoral scanning of the jaw and soft tissue-based registration of an intraoral scan with a CBCT scan can be performed with a high degree of precision.