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Journal articles on the topic 'Molecular diagnostic tool'

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Author: Grafiati

Published: 6 September 2023

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1

Han, Su-Xia, Xi Jia, Jin-lu Ma, and Qing Zhu. "Molecular Beacons: A Novel Optical Diagnostic Tool." Archivum Immunologiae et Therapiae Experimentalis 61, no. 2 (January 5, 2013): 139–48. http://dx.doi.org/10.1007/s00005-012-0209-7.

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Pitt, T. L. "Molecular bacteriology: a diagnostic tool for the millennium." Journal of Clinical Pathology 53, no. 1 (January 1, 2000): 71–75. http://dx.doi.org/10.1136/jcp.53.1.71.

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Chiu, Rossa W. K. "Massively parallel sequencing as a molecular diagnostic tool." Pathology 44 (2012): S18. http://dx.doi.org/10.1016/s0031-3025(16)32643-5.

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Chiu, Rossa W. K. "Massively parallel sequencing as a molecular diagnostic tool." Pathology 44 (2012): S29—S30. http://dx.doi.org/10.1016/s0031-3025(16)32670-8.

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Kim, Seohyun, Sangmin Ji, and Hye Ran Koh. "CRISPR as a Diagnostic Tool." Biomolecules 11, no. 8 (August 6, 2021): 1162. http://dx.doi.org/10.3390/biom11081162.

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Clustered regularly interspaced short palindromic repeats (CRISPR)-Cas system has recently gained growing attention as a diagnostic tool due to its capability of specific gene targeting. It consists of Cas enzymes and a guide RNA (gRNA) that can cleave the target DNA or RNA based on the sequence of the gRNA, making it an attractive genetic engineering technique. In addition to the target-specific binding and cleavage, the trans-cleavage activity was reported for some Cas proteins, including Cas12a and Cas13a, which is to cleave the surrounding single-stranded DNA or RNA upon the target binding of Cas-gRNA complex. All these activities of the CRISPR-Cas system are based on its target-specific binding, making it applied to develop diagnostic methods by detecting the disease-related gene as well as microRNAs and the genetic variations such as single nucleotide polymorphism and DNA methylation. Moreover, it can be applied to detect the non-nucleic acids target such as proteins. In this review, we cover the various CRISPR-based diagnostic methods by focusing on the activity of the CRISPR-Cas system and the form of the target. The CRISPR-based diagnostic methods without target amplification are also introduced briefly.

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Netto, George J., and Rana Domiati Saad. "Diagnostic Molecular Pathology: An Increasingly Indispensable Tool for the Practicing Pathologist." Archives of Pathology & Laboratory Medicine 130, no. 9 (September 1, 2006): 1339–48. http://dx.doi.org/10.5858/2006-130-1339-dmpaii.

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Abstract Context.—Diagnostic molecular pathology is rapidly becoming an indispensable tool for anatomic pathologists. Familiarity with some of the technologic principles and current, as well as upcoming, molecular diagnostic applications is greatly advantageous for today's practice of pathology. Objectives.— To provide a discussion of the most common techniques currently used in molecular pathology laboratories and review their essential applications to diagnosis and management of neoplastic diseases. Data Sources.—A literature review and illustrative cases from the authors' molecular diagnostic practices. Conclusions.—Applications such as clonality assays, molecular cytogenetics, and chimerism analysis are providing us with accurate tools to resolve difficult diagnostic and management decisions in hemato-oncology. This should serve as a future model to expand molecular applications into the wider field of solid tumors.

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Monje, R. R., and S. Aalto. "Molecular Chemistry as Diagnostic tool for Starbursts and AGNs." EAS Publications Series 31 (2008): 81–84. http://dx.doi.org/10.1051/eas:0831016.

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McKerrell, Thomas D., Ignacio Varela, Nicolo Bolli, Postingl Hannes, Zemin Ning, German Tischler, Anthony Bench, et al. "R.I.S.C.L: A Holistic Molecular Diagnostic Tool for Myeloid Malignancies." Blood 124, no. 21 (December 6, 2014): 2342. http://dx.doi.org/10.1182/blood.v124.21.2342.2342.

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Abstract The genomic landscapes of acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), myeloproliferative disorders (MPD) and other related myeloid malignancies are now amongst the best characterized cancer genomes. These malignancies share most of their somatic driver mutations, many of which have therapeutic and prognostic significance (Patel et al, NEJM 2012). Patient prognostication and clinical decision-making can be greatly facilitated by testing for these mutations in parallel with established diagnostic assays. Here, we describe and validate RISCL (Rearrangements, Indels, Substitutions, Copy number and Loss-of-heterozygosity), a novel methodological and bioinformatic tool for the molecular diagnosis of myeloid malignancies. This tool employs targeted DNA capture to simultaneously: 1) identify coding mutations in 49 genes, 2) detect the four most important translocations in AML and 3) derive genome-wide copy number and zygosity data. Samples & methods 1. Samples Genomic DNA was extracted from bone marrow samples of 62 patients with AML (n=86 samples, including 24 remission samples) and 68 patients with MDS; and from blood granulocytes and mononuclear cells from 5 cord blood samples and 18 adults with normal hematopoiesis. 2. cRNA baits and sequencing The bait library (Agilent) contained 53,613 probes to capture: 1) all exons from 49 genes 2) intronic breakpoint sites for PML-RARA, CBFb-MYH11 and RUNX1-RUNX1T1 and MLL breakpoints 3) 9958 SNPs (minor allele frequency 0.40-0.45) for genome wide copy number and zygosity analysis. Barcoded sequencing was performed using Illumina HiSeq 2000 (100bp paired-end). 3. Bioinformatic analysis We used bespoke bioinformatics for detecting coding substitutions and indels (MIDAS; Conte et al, Leukemia 2013), chromosomal translocations (SMALT-FIT), copy number analysis (Avadis software) and detection of specific mutations such as MLL-PTD and FLT3-ITD (in-house scripts). 4. Verification of results To validate the sensitivity and specificity of our approach, we compared our findings to conventional diagnostic data and are also validating 30% of randomly selected variants. Results A mean of 94% of targeted bases were covered at least by 30x. In AML samples, the four most common coding mutations identified affected NPM1 (n=10), CEBPA (n=8), IDH1 (n=8) and NRAS (n=7). By comparison to conventional diagnostics, we detected 5/5 IDH1R132, 4/4 CEBPA, 1/1 IDH2R172K and 8/9 NPM1 mutations. In MDS samples, the top four mutations affected TP53 (n=15), TET2 (n=13), SRSF2 (n=9), ASXL1 (n=8) and mutations affecting spliceosome genes (n=18) that were mutually exclusive, as previously described (Yoshida et al, Nature 2011). RISCL detected 100% of known translocations (28/28) in AML patients, namely CBFb-MYH11 (n=8/8), PML-RARA (n=9/9), RUNX1-RUNX1T1 (n=4/4) and rearrangements of MLL (n=7/7). In every case of MLL rearrangement the gene partner was identified and in one case with t(X;11) we identified a novel gene partner to MLL, DIAPH2. Furthermore, we identified one patient with an MLL rearrangement not identified at diagnosis. Copy number analysis efficiently detected known large chromosomal deletions or monosomies in chromosome 5 (18/18) and 7 (10/12). Overall 47/54 large deletions were detected using Avadis software. Furthermore in one MDS patient we were able to detect a submicroscopic heterozygous deletion in chromosome 4 which included TET2. However this method was much less sensitive for detecting trisomies (13/27 trisomies detected overall). The reasons for this disparity between detection of deletions and amplifications using a standardized depth of coverage algorithm are unclear, but may include subclonal mutations, selection of karyotypically abnormal cells during metaphase preparation or limitations of our bioinformatic analysis, which we are currently investigating. Figure 1 shows an example of the results of our holistic analysis using RISCL from an informative case of AML. In summary we describe RISCL, a novel powerful holistic NGS tool for detailed characterization of myeloid malignancies that can be used for patient stratification and a personalized approach to malignancy in the molecular era. The same approach can be extended to other malignancies. Figure 1 Figure 1. Disclosures No relevant conflicts of interest to declare.

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Klamminger, Gilbert Georg, Laurent Mombaerts, Karoline Klein, Finn Jelke, Giulia Mirizzi, Redouane Slimani, Jean-Jacques Gerardy, et al. "PATH-44. RAMAN SPECTROSCOPY AS A DIAGNOSTIC TOOL IN NEUROPATHOLOGY." Neuro-Oncology 23, Supplement_6 (November 2, 2021): vi125. http://dx.doi.org/10.1093/neuonc/noab196.496.

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Abstract BACKGROUND Although microscopic assessment is still the diagnostic gold standard in pathology, non-light microscopic methods such as new imaging methods and molecular pathology have considerably contributed to more precise diagnostics. As an upcoming method, Raman spectroscopy (RS) offers a "molecular fingerprint" which could be used to differentiate tissue heterogeneity or diagnostic entities. RS has so far been successfully applied on fresh and frozen tissue, however more aggressively, chemically treated tissue such as formalin-fixed, paraffin-embedded (FFPE) samples are challenging for RS. METHODS To address this issue, we examined FFPE samples of a broad range of intracranial tumors (e.g. glioblastoma and primary CNS lymphoma) and also different areas of morphologically highly heterogeneous glioblastoma tumor tissue. The latter in order to classify not only the tumor entity but also histologically defined GBM areas according to their spectral properties. We applied linear and nonlinear machine learning algorithms (Logistic Regression, Random Forest, Support Vector Machine) on our spectroscopic data and compared statistical performance of resulting classifiers. RESULTS We found that Random Forest classification distinguished between glioblastoma and primary CNS lymphoma with a balanced accuracy of 94%, only using Raman measurements on FFPE tissue. Furthermore, our established support vector machine-based classifier identified distinct histological areas in glioblastoma such as tumor core and necroses with an overall accuracy of 70.5% and showed a clear separation between the areas of necrosis and peritumoral zone. CONCLUSIONS This relatively cheap and easy-to-apply tool may serve useful to complement histopathological and molecular diagnostics. It provides an unbiased approach to tumor diagnostics with very little requirements (e.g. histopathological feature completeness of the tumor entity) to the sample. As a conclusion, we propose RS as a potential future additional method in the (neuro)-pathological toolbox for tumor diagnostics.

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Ellis, David I., Warwick B. Dunn, Julian L. Griffin, J. William Allwood, and Royston Goodacre. "Metabolic fingerprinting as a diagnostic tool." Pharmacogenomics 8, no. 9 (September 2007): 1243–66. http://dx.doi.org/10.2217/14622416.8.9.1243.

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Ridolo, Erminia, Cristoforo Incorvaia, Enrico Heffler, Carlo Cavaliere, Giovanni Paoletti, and Giorgio Walter Canonica. "The Present and Future of Allergen Immunotherapy in Personalized Medicine." Journal of Personalized Medicine 12, no. 5 (May 10, 2022): 774. http://dx.doi.org/10.3390/jpm12050774.

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Allergic diseases are particularly suitable for personalized medicine, because they meet the needs for therapeutic success, which include a known molecular mechanism of the disease, a diagnostic tool for that disease and a treatment that blocks this mechanism. A range of tools is available for personalized allergy diagnosis, including molecular diagnostics, treatable traits and omics (i.e., proteomics, epigenomics, metabolomics, transcriptomics and breathomics), to predict patient response to therapies, detect biomarkers and mediators and assess disease control status. Such tools enhance allergen immunotherapy. Higher diagnostic accuracy results in a significant increase (based on a greater performance achieved with personalized treatment) in efficacy, further increasing the known and unique characteristics of a treatment designed to work on allergy causes.

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Huggett, Jim F., Simon Cowen, and Carole A. Foy. "Considerations for Digital PCR as an Accurate Molecular Diagnostic Tool." Clinical Chemistry 61, no. 1 (January 1, 2015): 79–88. http://dx.doi.org/10.1373/clinchem.2014.221366.

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Abstract BACKGROUND Digital PCR (dPCR) is an increasingly popular manifestation of PCR that offers a number of unique advantages when applied to preclinical research, particularly when used to detect rare mutations and in the precise quantification of nucleic acids. As is common with many new research methods, the application of dPCR to potential clinical scenarios is also being increasingly described. CONTENT This review addresses some of the factors that need to be considered in the application of dPCR. Compared to real-time quantitative PCR (qPCR), dPCR clearly has the potential to offer more sensitive and considerably more reproducible clinical methods that could lend themselves to diagnostic, prognostic, and predictive tests. But for this to be realized the technology will need to be further developed to reduce cost and simplify application. Concomitantly the preclinical research will need be reported with a comprehensive understanding of the associated errors. dPCR benefits from a far more predictable variance than qPCR but is as susceptible to upstream errors associated with factors like sampling and extraction. dPCR can also suffer systematic bias, particularly leading to underestimation, and internal positive controls are likely to be as important for dPCR as they are for qPCR, especially when reporting the absence of a sequence. SUMMARY In this review we highlight some of the considerations that may be needed when applying dPCR and discuss sources of error. The factors discussed here aim to assist in the translation of dPCR to diagnostic, predictive, or prognostic applications.

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Graubert, T. "13 Molecular analysis as a diagnostic tool in myelodysplastic syndromes." Leukemia Research 35 (May 2011): S5. http://dx.doi.org/10.1016/s0145-2126(11)70015-7.

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Shermis, Robin B., Roberta E. Redfern, John Bazydlo, Gabriel Naimy, Haris Kudrolli, and John Chen. "Performance of Molecular Breast Imaging as an Adjunct Diagnostic Tool." Translation: The University of Toledo Journal of Medical Sciences 6 (December 2, 2019): 15–19. http://dx.doi.org/10.46570/utjms.vol6-2019-333.

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Purpose: The aim was to retrospectively assess the performance of molecular breast imaging (MBI) as an adjunct diagnostic tool when symptoms could not be explained by conventional imaging, or when mammography or ultrasound findings were equivocal. Methods: The analysis was comprised of women who underwent further testing with MBI after diagnostic mammography and/or targeted ultrasound. Outcome measures included sensitivity, specificity, and positive and negative predictive values. Receiver-operating characteristic (ROC) curve was constructed and analyzed as a performance measure. Results: In 301 women with a complete reference standard, 18 (6.0%) were diagnosed with cancer. MBI detected cancer in 16 subjects; two interval cancers occurred. 15 of the 16 cancers detected by MBI were invasive. Overall sensitivity of MBI in this sample was 88.9 % (95% CI 65.6 – 98.6), with 97.5% specificity (95% CI 95.0 – 99.0). Positive predictive value (PPV) was 69.6%, while negative predictive value for recall (NPV) was calculated as 99.3%. ROC curves demonstrated excellent performance (area under the curve = 0.933). Conclusions: MBI is a valuable diagnostic tool for further evaluation or to guide management when conventional imaging is incomplete. The majority of tumors in this study were invasive carcinomas with node negative status, important for timely treatment.

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Park, Bongsoo, Frank Martin, David M. Geiser, Hye-Seon Kim, Michele A. Mansfield, Ekaterina Nikolaeva, Sook-Young Park, et al. "Phytophthora Database 2.0: Update and Future Direction." Phytopathology® 103, no. 12 (December 2013): 1204–8. http://dx.doi.org/10.1094/phyto-01-13-0023-r.

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The online community resource Phytophthora database (PD) was developed to support accurate and rapid identification of Phytophthora and to help characterize and catalog the diversity and evolutionary relationships within the genus. Since its release in 2008, the sequence database has grown to cover 1 to 12 loci for ≈2,600 isolates (representing 138 described and provisional species). Sequences of multiple mitochondrial loci were added to complement nuclear loci-based phylogenetic analyses and diagnostic tool development. Key characteristics of most newly described and provisional species have been summarized. Other additions to improve the PD functionality include: (i) geographic information system tools that enable users to visualize the geographic origins of chosen isolates on a global-scale map, (ii) a tool for comparing genetic similarity between isolates via microsatellite markers to support population genetic studies, (iii) a comprehensive review of molecular diagnostics tools and relevant references, (iv) sequence alignments used to develop polymerase chain reaction-based diagnostics tools to support their utilization and new diagnostic tool development, and (v) an online community forum for sharing and preserving experience and knowledge accumulated in the global Phytophthora community. Here we present how these improvements can support users and discuss the PD's future direction.

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Jain, Kanu, Monica Mehendiratta, Deepti Jindal, and Mohit Bansal. "Polymerase Chain Reaction: A Powerful Diagnostic and Research Tool." Dental Journal of Advance Studies 01, no. 02 (August 2013): 077–84. http://dx.doi.org/10.1055/s-0038-1671958.

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AbstractTo fully understand cellular processes, scientists often examine events at the level of nucleic acids and protein molecules. These studies are complicated by the fact that cells have miniscule amounts of molecules of interest which are too small to be seen. So we require molecular tools to visualize these molecules. Polymerase chain reaction is one such technique widely used in molecular biology and produce quantities that are sufficient to study and visualize. With the advancement in this technique, it has revolutionized the field of research and diagnosis. In this article, we present a review on the principle, basic technique, applications, limitations and recent advances of Polymerase Chain Reaction.

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Drobek, Dominik, Kacper Wojtala, Michał Turek, Aleksandra Winiarz, Paula Szlendak, Katarzyna Toś, Katarzyna Wąsala, Sylwia Grosman, Agata Węgrzyniak, and Wojciech Wokurka. "Blood sample as a promising diagnostic tool in oncology - literature review." Journal of Education, Health and Sport 42, no. 1 (June 27, 2023): 11–23. http://dx.doi.org/10.12775/jehs.2023.42.01.001.

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Introduction Cancer is one of the leading causes of death worldwide. The molecular characterization of solid tumors has provided significant advances in oncology, and genome profiling using circulating tumor DNA (ctDNA) has helped improve the quality of medical care for patients with cancer. Liquid biopsy is a diagnostic molecular test to demonstrate the presence of circulating tumor DNA or circulating tumor cells released from primary or metastatic solid tumors. In addition, the minimally invasive nature of the liquid biopsy enables quick verification of the grade of malignancy. Observation of ctDNA in blood tests is of great importance at the treatment stage, it allows to determine resistance to the applied treatment, response to therapy and to predict relapse before it occurs. Aim of the study The aim of this review is to present information on the use of circulating tumor DNA together with circulating tumor cells in oncological diagnostics. Materials and methods The work was created based on the PubMed database. Articles were searched in English using the following keywords: ctDNA, CTC, cfDNA. Results Currently, ctDNA analysis is an alternative to traditional molecular diagnostics of cancer tissue, assessment of the effectiveness of therapy, monitoring of tumor dynamics, monitoring of progression and predicting recurrence. Summary There are not many diagnostic methods for detecting ctDNA. Due to the short length of the fragments and the low content in the samples, ctDNA analysis requires more sensitive techniques to ensure its reliability compared to methods used in solid tissue biopsies. Existing techniques of ctDNA analysis focus mainly on the identification of mutations in advanced stages of cancer, less often on early diagnosis.

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Kapustin, D. V., A. I. Prostyakova, D. I. Zybin, and V. P. Zubov. "Nanostructured Polymer-Containing Composites as an Efficient Tool for Molecular Diagnostic." Nanobiotechnology Reports 16, no. 1 (January 2021): 19–41. http://dx.doi.org/10.1134/s2635167621010067.

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MohdTaib, N. H., A. K. Wan Abdullah, I. L. Shuaib, E. Magosso, and Isa S. Mat. "Diffusion tensor magnetic resonance imaging as molecular diagnostic tool for leukoaraiosis." Asian Pacific Journal of Tropical Disease 4, no. 3 (June 2014): 228. http://dx.doi.org/10.1016/s2222-1808(14)60520-x.

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Chung, Eun Ji, Laurie B. Mlinar, Kathryn Nord, Matthew J. Sugimoto, Emily Wonder, Francis J. Alenghat, Yun Fang, and Matthew Tirrell. "Monocyte-Targeting Supramolecular Micellar Assemblies: A Molecular Diagnostic Tool for Atherosclerosis." Advanced Healthcare Materials 4, no. 3 (August 22, 2014): 367–76. http://dx.doi.org/10.1002/adhm.201400336.

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Qi, Yong, Kun Li, Yuxi Li, Donglin Guo, Jing Xu, Yuexi Li, and Wenping Gong. "CRISPR-Based Diagnostics: A Potential Tool to Address the Diagnostic Challenges of Tuberculosis." Pathogens 11, no. 10 (October 20, 2022): 1211. http://dx.doi.org/10.3390/pathogens11101211.

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Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis, which infects more than 23% of the world’s population. With the emergence of drug-resistant TB (DR-TB) and latent TB infection (LTBI), rapid diagnosis of DR-TB and LTBI has become a challenge for the prevention and control of TB. Herein, we highlight these challenges and discuss emerging clustered regularly interspaced short palindromic repeats (CRISPR)-based diagnostics in TB detection. Currently, the clinical diagnosis of M. tuberculosis infection mainly depends on pathogenic and molecular biological methods, including sputum smear, sputum culture, and Xpert. Although CRISPR-based diagnostics have not been applied to the clinical diagnosis of TB, they have shown exciting preponderances in TB diagnosis compared with traditional methods, including higher sensitivity, less sample input, and shorter turnaround time. CRISPR-based diagnostics represent a potential tool to address the challenges and natural weaknesses associated with traditional TB diagnosis methods. Based on the currently available data, we suggest that future CRISPR-based TB diagnostics should be developed in the direction of automation, modularization, diversification, and intelligence. By combining the CRISPR platform with various systems, such as microfluidic chips, droplet microfluidics, electrochemical techniques, and optical systems, the specificity and sensitivity of TB diagnosis may be revolutionized.

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Kapil, Menka, Rateesh Sareen, and GN Gupta. "Peripheral blood smear pathologist tool." Hematology & Transfusion International Journal 8, no. 1 (February 24, 2020): 10–11. http://dx.doi.org/10.15406/htij.2020.08.00214.

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Microscopic evaluation of a peripheral blood smear is one of the most valuable test for the diagnosis and differential diagnosis of disease inclusive of clinical history and physical examination. Despite advances in haematology automation and application of molecular techniquesits diagnostic relevance is enormous.

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Redard-Jacot, Maël, Devy M. Emperador, Eva Junyent, Mickey Urdea, Rich Thayer, and Rangarajan Sampath. "Analysis of diagnostic product portfolios using the Portfolio-To-Impact modelling tool." F1000Research 10 (February 16, 2021): 116. http://dx.doi.org/10.12688/f1000research.29057.1.

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Background: The Portfolio-To-Impact version 2 (P2I v.2) financial forecasting tool estimates funding requirements for development of portfolios of candidate health products (drugs, biologics, vaccines or diagnostics). The assumptions and archetypes relating to diagnostics in P2I v.2 are based on limited data and may not accurately describe research and development costs, timelines and probability of success. This study aimed to revise the P2I v.2 tool by modifying the diagnostic assumptions to improve accuracy of predictions for diagnostic portfolios. Methods: Data from expert interviews and historical information on development of 26 existing diagnostics were used to determine approximate research and development costs, timelines and probability of success for development of diagnostics, and to revise diagnostic archetypes and development phases. To compare the revised tool with P2I v.2, data on 27 candidates from the Foundation for Innovative New Diagnostics (FIND) tuberculosis and pandemic preparedness portfolios were input into both versions. Results: The number of diagnostic archetypes increased from two in P2I v.2 to three in the revised tool. Total estimated costs to move the 27 candidates along the pipeline to launch were US$641.62 million with P2I v.2 and US$274.00 million with the revised model. The number of expected launches was 21.65 over five years with P2I v.2 and 11.48 over eight years with the revised model. Development timelines were extended and probability of success was lower with the revised model compared with P2I v.2. Conclusions: Outputs from the revised tool were in line with expert experience, suggesting that the proposed revisions improve the accuracy of the tool for estimating research and development costs, timelines and probability of success relating to diagnostic portfolios. Additional improvements to the tool could include further refinement of archetypes, incorporation of a measure of potential public health impact, and addition of a commercialization phase for diagnostics.

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Carli, Giulia, Giacomo Tondo, Cecilia Boccalini, and Daniela Perani. "Brain Molecular Connectivity in Neurodegenerative Conditions." Brain Sciences 11, no. 4 (March 28, 2021): 433. http://dx.doi.org/10.3390/brainsci11040433.

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Positron emission tomography (PET) allows for the in vivo assessment of early brain functional and molecular changes in neurodegenerative conditions, representing a unique tool in the diagnostic workup. The increased use of multivariate PET imaging analysis approaches has provided the chance to investigate regional molecular processes and long-distance brain circuit functional interactions in the last decade. PET metabolic and neurotransmission connectome can reveal brain region interactions. This review is an overview of concepts and methods for PET molecular and metabolic covariance assessment with evidence in neurodegenerative conditions, including Alzheimer’s disease and Lewy bodies disease spectrum. We highlight the effects of environmental and biological factors on brain network organization. All of the above might contribute to innovative diagnostic tools and potential disease-modifying interventions.

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Yang, Hongjun, Jonathan K. Leland, David Yost, and Richard J. Massey. "Electrochemiluminescence: A New Diagnostic and Research Tool." Nature Biotechnology 12, no. 2 (February 1994): 193–94. http://dx.doi.org/10.1038/nbt0294-193.

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Soliz, C., J. A. Brigante, J. Rebak, L. L. Holguín Arias, L. Sorrentino, G. Gómez, A. Hamaui, and D. Dubinsky. "AB0801 NEW DIAGNOSTIC TOOL IN BEHCET’S DISEASE." Annals of the Rheumatic Diseases 82, Suppl 1 (May 30, 2023): 1612.2–1613. http://dx.doi.org/10.1136/annrheumdis-2023-eular.3067.

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BackgroundBehcet’s disease (BD) is characterized by oral, genital, and gastrointestinal manifestations. The pathergy test is used as a diagnostic tool, but this is not specific to BD, since it can be found in other diseases and can equally be negative even having the disease.Another characteristic of BD is the vascular compromise, predominantly venous. In a study, the measurement of the thickness of the common femoral vein (CVF) proved to be a diagnostic test with sensitivity and specificity greater than 80% for the cut-off value of 0.5 mm.ObjectivesTo evaluate the diagnostic performance of the thickness of the posterior wall of the common femoral vein, measured by Doppler ultrasound for the diagnosis of Behcet’s disease.MethodsA multicenter pilot study was carried out to evaluate a diagnostic test. Data were collected by reviewing medical records collected from patients who met the 2014 International Criteria for Behcet’s Disease (ICBD), and healthy controls. Venous Doppler ultrasound of the lower limbs was performed in both groups using an ultrasound evaluation protocol, considering posterior wall thickness of the CFV ≥ 0.5 mm as positive.Results19 patients with EB and 19 healthy controls were included. The mean age of patients with DB was 47 (SD 12.6), and the median age of healthy patients was 41 years (IQR 36.5-48.5). 57.89% were mestizo in the BD group and 68.42% in the control group.The median delay in diagnosis was 19 months (IQR 11-36). The presence of HLA B51 was 63.15% and the positive pathergy test was found in 31.57%. At the time of the study, 42.10% had disease activity and a mean of 8.8 years of disease. (Table 1)The ultrasound was positive in 89.4% of patients with BD and 10.5% in the healthy group, observing a sensitivity of 94.1% and a specificity of 94.7%, with an area under the curve 0.89 (p < 0.0001), PPV 94.1% and NPV 94.7%. (Fig. 1)We observe a post-test probability of 0.059. The test presents LR + 17.8 (95%CI 2.5-127) and LR - 0.06 (95%CI 0.008-0.4)ConclusionThe diagnosis of Behcet’s disease is difficult because it is based mainly on clinical manifestations, so this ultrasound test has a good capacity to be used as part of the diagnosis in patients with clinical suspicion, since it has a good sensitivity and specificity profile, low cost and simplicity.References[1]Jennette JC, Falk RJ, Bacon PA et al. 2012 revised International Chapel Hill Consensus conference nomenclature of vasculitides. Arthritis Rheum 2013;65: 1–11.[2]Calamia KT, Schirmer M, Melikoglu M. Major vessel involvement in Bechet’s disease: an update. Curr Opin Rheumatol 2011; 23:24–31.[3]Alibaz-Oner F, Ergelen R, Yildiz Y, Aldag M, Yazici A, Cefle A, Koç E, Artim Esen B, Mumcu G, Ergun T, Direskeneli H. Femoral vein wall thickness measurement: A new diagnostic tool for Behçet’s disease. Rheumatology (Oxford). 2021 Jan 5;60(1):288-296. doi: 10.1093/rheumatology/keaa264. PMID: 32756998.[4]Tezcan D, Özer H, Gülcemal S, Hakbilen S, Durmaz MS, Batur A, Yilmaz S. Diagnostic Performance of Lower Extremity Venous Wall Thickness and Laboratory Findings in the Diagnosis of the Behçet Disease. J Clin Rheumatol. 2022 Mar 1;28(2):e521-e527. doi: 10.1097/RHU.0000000000001788. PMID: 34538847.Table 1Demographic, clinical and treatment characteristics.Fig. 1ROC CurveAcknowledgements:NIL.Disclosure of InterestsNone Declared.

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Makimura, Koichi. "Molecular Methods as a Diagnostic Tool for Fungal Infections and Their Prospect." Nippon Ishinkin Gakkai Zasshi 45, no. 2 (2004): 59–62. http://dx.doi.org/10.3314/jjmm.45.59.

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Canuto, V. M., and A. Battaglia. "Turbulence in molecular clouds - A new diagnostic tool to probe their origin." Astrophysical Journal 294 (July 1985): L125. http://dx.doi.org/10.1086/184523.

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Sellers, Graham S., Larry R. Griffin, Bernd Hänfling, and Africa Gómez. "A new molecular diagnostic tool for surveying and monitoring Triops cancriformis populations." PeerJ 5 (May 11, 2017): e3228. http://dx.doi.org/10.7717/peerj.3228.

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The tadpole shrimp, Triops cancriformis, is a freshwater crustacean listed as endangered in the UK and Europe living in ephemeral pools. Populations are threatened by habitat destruction due to land development for agriculture and increased urbanisation. Despite this, there is a lack of efficient methods for discovering and monitoring populations. Established macroinvertebrate monitoring methods, such as net sampling, are unsuitable given the organism’s life history, that include long lived diapausing eggs, benthic habits and ephemerally active populations. Conventional hatching methods, such as sediment incubation, are both time consuming and potentially confounded by bet-hedging hatching strategies of diapausing eggs. Here we develop a new molecular diagnostic method to detect viable egg banks of T. cancriformis, and compare its performance to two conventional monitoring methods involving diapausing egg hatching. We apply this method to a collection of pond sediments from the Wildfowl & Wetlands Trust Caerlaverock National Nature Reserve, which holds one of the two remaining British populations of T. cancriformis. DNA barcoding of isolated eggs, using newly designed species-specific primers for a large region of mtDNA, was used to estimate egg viability. These estimates were compared to those obtained by the conventional methods of sediment and isolation hatching. Our method outperformed the conventional methods, revealing six ponds holding viable T. cancriformis diapausing egg banks in Caerlaverock. Additionally, designed species-specific primers for a short region of mtDNA identified degraded, inviable eggs and were used to ascertain the levels of recent mortality within an egg bank. Together with efficient sugar flotation techniques to extract eggs from sediment samples, our molecular method proved to be a faster and more powerful alternative for assessing the viability and condition of T. cancriformis diapausing egg banks.

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Zhao, Sanxia, and Yinlin Ge. "Urine Lunx mRNA as a Potential Molecular Diagnostic Tool for Lung Cancer." International Journal of Sciences 4, no. 08 (2018): 1–3. http://dx.doi.org/10.18483/ijsci.1782.

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SEN, M., K. HUYNH, M. WALKER, R. EVANGELISTA, K. JAGGI, D. DAVOUDZADEH, D. HOVANECBURNS, and U. BANIK. "Native Ara h 1: A New Molecular Diagnostic Tool for Peanut Allergy." Journal of Allergy and Clinical Immunology 121, no. 2 (February 2008): S243. http://dx.doi.org/10.1016/j.jaci.2007.12.962.

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Filion, Julie, Richard J. Munz, and Eric D. Salin. "Molecular Emission Spectroscopy as a Potential Diagnostic Tool in Plasma-Assisted Incineration." Applied Spectroscopy 56, no. 4 (April 2002): 449–54. http://dx.doi.org/10.1366/0003702021955105.

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This paper reports on a simple analytical procedure used to demonstrate the technical feasibility of adaptive plasma-assisted incineration. APAI is a novel concept that addresses current difficulties in the treatment of hazardous organic waste. It features continual optimization of a plasma afterburner's operating conditions for cost-effective destruction of persistent contaminants under variable feed loads. Hence, on-line composition monitoring is a key element of the process. A diagnostic method was specifically developed for an experimental model system that required optical measurements from the jet of a 25–kW induction plasma torch. The method used photodiode array detection of visible emission from the Swan band system of C2 to track the destruction of organic compounds. This rapid, simple, and inexpensive procedure proved adequate for demonstration purposes.

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Gaudaire, D., N. Berthet, S. Zientara, and A. Hans. "A novel molecular diagnostic tool for Equine Arteritis Virus detection and characterization." Journal of Equine Veterinary Science 39 (April 2016): S10. http://dx.doi.org/10.1016/j.jevs.2016.02.021.

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Benton, Miles C., Robert A. Smith, Larisa M. Haupt, Heidi G. Sutherland, Paul J. Dunn, Cassie L. Albury, Neven Maksemous, Rodney Lea, and Lyn Griffiths. "Variant Call Format–Diagnostic Annotation and Reporting Tool." Journal of Molecular Diagnostics 21, no. 6 (November 2019): 951–60. http://dx.doi.org/10.1016/j.jmoldx.2019.07.001.

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Adekanmbi, Ezekiel O., Massaro W. Ueti, Brady Rinaldi, Carlos E. Suarez, and Soumya K. Srivastava. "Insulator-based dielectrophoretic diagnostic tool for babesiosis." Biomicrofluidics 10, no. 3 (May 2016): 033108. http://dx.doi.org/10.1063/1.4954196.

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Daher, Rana K., Gale Stewart, Maurice Boissinot, and Michel G. Bergeron. "Recombinase Polymerase Amplification for Diagnostic Applications." Clinical Chemistry 62, no. 7 (July 1, 2016): 947–58. http://dx.doi.org/10.1373/clinchem.2015.245829.

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Abstract BACKGROUND First introduced in 2006, recombinase polymerase amplification (RPA) has stirred great interest, as evidenced by 75 publications as of October 2015, with 56 of them just in the last 2 years. The widespread adoption of this isothermal molecular tool in many diagnostic fields represents an affordable (approximately 4.3 USD per test), simple (few and easy hands-on steps), fast (results within 5–20 min), and sensitive (single target copy number detected) method for the identification of pathogens and the detection of single nucleotide polymorphisms in human cancers and genetically modified organisms. CONTENT This review summarizes the current knowledge on RPA. The molecular diagnostics of various RNA/DNA pathogens is discussed while highlighting recent applications in clinical settings with focus on point-of-care (POC) bioassays and on automated fluidic platforms. The strengths and limitations of this isothermal method are also addressed. SUMMARY RPA is becoming a molecular tool of choice for the rapid, specific, and cost-effective identification of pathogens. Owing to minimal sample-preparation requirements, low operation temperature (25–42 °C), and commercial availability of freeze-dried reagents, this method has been applied outside laboratory settings, in remote areas, and interestingly, onboard automated sample-to-answer microfluidic devices. RPA is undoubtedly a promising isothermal molecular technique for clinical microbiology laboratories and emergence response in clinical settings.

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Jayaseelan, Vijayashree Priyadharsini. "Emerging role of exosomes as promising diagnostic tool for cancer." Cancer Gene Therapy 27, no. 6 (September 3, 2019): 395–98. http://dx.doi.org/10.1038/s41417-019-0136-4.

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Georgiev, Nikolai I., Ventsislav V. Bakov, Kameliya K. Anichina, and Vladimir B. Bojinov. "Fluorescent Probes as a Tool in Diagnostic and Drug Delivery Systems." Pharmaceuticals 16, no. 3 (March 1, 2023): 381. http://dx.doi.org/10.3390/ph16030381.

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Over the last few years, the development of fluorescent probes has received considerable attention. Fluorescence signaling allows noninvasive and harmless real-time imaging with great spectral resolution in living objects, which is extremely useful for modern biomedical applications. This review presents the basic photophysical principles and strategies for the rational design of fluorescent probes as visualization agents in medical diagnosis and drug delivery systems. Common photophysical phenomena, such as Intramolecular Charge Transfer (ICT), Twisted Intramolecular Charge Transfer (TICT), Photoinduced Electron Transfer (PET), Excited-State Intramolecular Proton Transfer (ESIPT), Fluorescent Resonance Energy Transfer (FRET), and Aggregation-Induced Emission (AIE), are described as platforms for fluorescence sensing and imaging in vivo and in vitro. The presented examples are focused on the visualization of pH, biologically important cations and anions, reactive oxygen species (ROS), viscosity, biomolecules, and enzymes that find application for diagnostic purposes. The general strategies regarding fluorescence probes as molecular logic devices and fluorescence–drug conjugates for theranostic and drug delivery systems are discussed. This work could be of help for researchers working in the field of fluorescence sensing compounds, molecular logic gates, and drug delivery.

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Vuaroqueaux, V., P. Diener, S. Eppenberger-Castori, M. Labuhn, C. Horica, T. Németh, M. Sulmoni, G. Fürstenberger, U. Eppenberger, and R. Morant. "Molecular profiles of prostate cancer versus today’s diagnostic tools." Journal of Clinical Oncology 24, no. 18_suppl (June 20, 2006): 14659. http://dx.doi.org/10.1200/jco.2006.24.18_suppl.14659.

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14659 Background: Tumor size, nodal status, the Gleason grading system and serum PSA values are today’s available prognostic tools of localized prostate cancer and the only help for adjuvant therapy. Based on the results of a feasibility study we continued the evaluation of the recently developed prognostic molecular signature. Methods: Of 60 CaP patients, who underwent primary prostatectomy in 2003 to 2005, fresh frozen samples of the tumor were asserved. The RNA extracted from cryocuts was tested. The quantitative RNA expression levels of 90 relevant genes involved in the different tumor hallmarks were simultaneously assessed. Results: Unsupervised agglomerative clustering of the obtained molecular profiles revealed different signatures. Correlations between these groups and the known TNM staging as well as Gleason scores were strongly present. Of interest was that all recurrences observed within this short period of time were found in a single cluster expressing higher levels of proliferation markers. Conclusions: The molecular profile of primary prostate cancer by quantitative RT-PCR is a powerful tool describing the biology of an individual tumor. Gene expression profiling can be precisely quantified and seems to be better reproducible than pathological judgments of the Gleason scores. Moreover, the gene panel is partially based on drug target genes and therefore of predictive value. Finally the method could be applied also in core biopsies. [Table: see text]

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Archer, John, Rebecca Barksby, Tom Pennance, Penelope Rostron, Faki Bakar, Stefanie Knopp, Fiona Allan, et al. "Analytical and Clinical Assessment of a Portable, Isothermal Recombinase Polymerase Amplification (RPA) Assay for the Molecular Diagnosis of Urogenital Schistosomiasis." Molecules 25, no. 18 (September 11, 2020): 4175. http://dx.doi.org/10.3390/molecules25184175.

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Accurate diagnosis of urogenital schistosomiasis is crucial for disease surveillance and control. Routine diagnostic methods, however, lack sensitivity when assessing patients with low levels of infection still able to maintain pathogen transmission. Therefore, there is a need for highly sensitive diagnostic tools that can be used at the point-of-care in endemic areas. Recombinase polymerase amplification (RPA) is a rapid and sensitive diagnostic tool that has been used to diagnose several pathogens at the point-of-care. Here, the analytical performance of a previously developed RPA assay (RT-ShDra1-RPA) targeting the Schistosoma haematobium Dra1 genomic region was assessed using commercially synthesised S. haematobium Dra1 copies and laboratory-prepared samples spiked with S. haematobium eggs. Clinical performance was also assessed by comparing diagnostic outcomes with that of a reference diagnostic standard, urine-egg microscopy. The RT-ShDra1-RPA was able to detect 1 × 101 copies of commercially synthesised Dra1 DNA as well as one S. haematobium egg within laboratory-spiked ddH2O samples. When compared with urine-egg microscopy, the overall sensitivity and specificity of the RT-ShDra1-RPA assay was 93.7% (±88.7–96.9) and 100% (±69.1–100), respectively. Positive and negative predictive values were 100% (±97.5–100) and 50% (±27.2–72.8), respectively. The RT-ShDra1-RPA therefore shows promise as a rapid and highly sensitive diagnostic tool able to diagnose urogenital schistosomiasis at the point-of-care.

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Peduto, Antonella, Matthias R. Baumgartner, Nanda M. Verhoeven, Daniel Rabier, Marco Spada, Marie-Cecile Nassogne, Bwee-Tien T. Poll-The, Giovanni Bonetti, Cornelis Jakobs, and Jean-Marie Saudubray. "Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders." Molecular Genetics and Metabolism 82, no. 3 (July 2004): 224–30. http://dx.doi.org/10.1016/j.ymgme.2004.04.010.

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Rusnita, Dewi. "SNPs ANALYSIS AS A TOOL IN MOLECULAR GENETICS DIAGNOSTICS." Majalah Kedokteran Andalas 38, no. 1 (May 20, 2015): 49. http://dx.doi.org/10.22338/mka.v38.i1.p49-56.2015.

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AbstrakSingle Nucleotide Polymorphism (SNP) merupakan variasi genetik yang ditemukan pada lebih dari 1% populasi. Haplotipe, yang merupakan sekelompok SNP atau alel dalam satu kromosom, dapat di turunkan ke generasi selanjutnya dan dapat digunakan untuk menelusuri gen penyebab penyakit (marker genetik). Artikel ini bertujuan menjelaskan aplikasi analisis SNP dalam diagnosis beberapa sindrom yang disebabkan gangguan genetik. Berdasarkan laporan studi terdahulu, sindrom yang disebabkan oleh UPD (uniparental disomy) maupun penyakit autosomal resesif yang muncul sebagai akibat perkawinan sedarah dapat dideteksi dengan SNP array melalui analisis block of homozygosity dalam kromosom. Kelebihan lain SNP array adalah kemampuannya dalam mendeteksi mosaicism level rendah yang tidak terdeteksi dengan pemeriksaan sitogenetik konvensional. Bahkan saat ini, SNP array sedang diujicobakan dalam IVF untuk mendapatkan bayi yang sehat. Hal ini dapat dilakukan dengan mendeteksi ada atau tidaknya gen tunggal penyebab penyakit pada embrio hasil bayi tabung sebelum embrio ditanamkan ke uterus. Analisis SNP dengan SNP array mempunyai banyak kelebihan dibanding metode pemeriksaan SNP lainnya dan diharapkan dapat digunakan secara luas dalam bidang diagnostik molekuler genetik di masa mendatang.AbstractSingle Nucleotide Polymorphism (SNP) is a genetic variant with a frequency of >1% of a large population. Haplotypes, a combination of a set of SNPs/alleles that appear as “associated blocks” on one chromosome, tend to be inherited together to the next offspring and can be used as genetic markers to trace particular diseases. This article aimed at explaining of SNP analysis application in diagnosis of genetic-disorder related syndrome. Previous studies showed that syndromes caused by UPD or autosomal recessive disorder as a result of consanguineous marriage can be identified by SNP array through analysing block of homozygosity region in a chromosome. Another advantage of SNP arrays is its ability in detecting low level mosaicism which was unidentified by conventional cytogenetic examination. Nowadays, SNP arrays are included in IVF process to obtain a healthy baby. It can be done by detecting the absence or the presence of disease-causing single gene in an embryo before it implanted to the womb. SNP analysis with SNP array has many advantages over other SNP analysis methods and is therefore expected can be widely used in the future in the field of molecular diagnostic.

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Libbrecht, Louis, and Tania Roskams. "Molecular Diagnostic Approach to Liver Tissue as an Ancillary Tool for Liver Histopathology." Seminars in Liver Disease 26, no. 4 (November 2006): 328–36. http://dx.doi.org/10.1055/s-2006-951600.

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Smith, D. W., R. F. Houghton, E. H. C. Parker, and T. E. Whall. "The p-n diode as a diagnostic tool for silicon molecular beam epitaxy." Thin Solid Films 184, no. 1-2 (January 1990): 177–83. http://dx.doi.org/10.1016/0040-6090(90)90412-7.

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Śpibida, Marta, Beata Krawczyk, and Marcin Olszewski. "Fusion DNA polymerase as a useful tool in molecular diagnostic and genetic engineering." New Biotechnology 33 (July 2016): S175. http://dx.doi.org/10.1016/j.nbt.2016.06.1326.

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Khater, M. K., S. Brakta, S. M. Shalaby, H. El-Husseini, M. Diamond, and A. Al-Hendy. "A novel diagnostic molecular bioimaging tool to discriminate between uterine leiomyosarcoma versus leiomyoma." Fertility and Sterility 104, no. 3 (September 2015): e29-e30. http://dx.doi.org/10.1016/j.fertnstert.2015.07.090.

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Humphrey, C. D., S. S. Monroe, and R. I. Glass. "Negative Stain Electron Microscopy…a Valuable Diagnostic Method in a Molecular Probe Diagnostic World." Microscopy and Microanalysis 4, S2 (July 1998): 1052–53. http://dx.doi.org/10.1017/s1431927600025381.

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Endemic and epidemic viral gastroenteritis are major causes of morbidity worldwide and are frequently a major cause of death in the developing world. Rotavirus, adenovirus, calicivirus, astrovirus, and the Norwalk virus family are the viruses most often associated with gastroenteritis. Of these, the major cause of epidemic viral gastroenteritis in the US is Norwalk-like viruses. Gastroenteritis caused by this virus group is responsible for such outbreaks in settings such as cruise ships, schools, camps, hospitals, day-care and extended care facilities, football games and festivals.As early as the 1950s and 1960s electron microscopy (EM), including negative stain EM, was established as a diagnostic tool for identifying viruses. Negative stain EM is especially useful for identifying viruses that are difficult or impossible to culture (eg. viruses in the Norwalk family). The first Norwalk virus was identified in the 1969 by immune-negative stain EM. Many antigenic types were identified soon afterward that did not cross-react with the prototype Norwalk virus.

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McHardy, K. C., J. A. Rennie, I. M. Reid, and C. H. Horne. "Detection of anti-dsDNA as a diagnostic tool." Annals of the Rheumatic Diseases 44, no. 8 (August 1, 1985): 573–74. http://dx.doi.org/10.1136/ard.44.8.573-b.

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PELLEY, JOHN W., and CHARLES A. BRADLEY. "Lipoamide Dehydrogenase in Serum: A Potential Diagnostic Tool." Annals of the New York Academy of Sciences 573, no. 1 Alpha-Keto Ac (December 1989): 404. http://dx.doi.org/10.1111/j.1749-6632.1989.tb15019.x.

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LEIGH, R. JOHN, ROBERT N. SAWYER, MICHAEL P. GRANT, and SCOTT H. SEIDMAN. "High-Frequency Vestibuloocular Reflex as a Diagnostic Tool." Annals of the New York Academy of Sciences 656, no. 1 Sensing and C (May 1992): 305–14. http://dx.doi.org/10.1111/j.1749-6632.1992.tb25217.x.

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