• Title/Summary/Keyword: Diagnostic molecular pathology

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Artificial Intelligence based Tumor detection System using Computational Pathology

  • Naeem, Tayyaba;Qamar, Shamweel;Park, Peom
    • Journal of the Korean Society of Systems Engineering
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    • v.15 no.2
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    • pp.72-78
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    • 2019
  • Pathology is the motor that drives healthcare to understand diseases. The way pathologists diagnose diseases, which involves manual observation of images under a microscope has been used for the last 150 years, it's time to change. This paper is specifically based on tumor detection using deep learning techniques. Pathologist examine the specimen slides from the specific portion of body (e-g liver, breast, prostate region) and then examine it under the microscope to identify the effected cells among all the normal cells. This process is time consuming and not sufficiently accurate. So, there is a need of a system that can detect tumor automatically in less time. Solution to this problem is computational pathology: an approach to examine tissue data obtained through whole slide imaging using modern image analysis algorithms and to analyze clinically relevant information from these data. Artificial Intelligence models like machine learning and deep learning are used at the molecular levels to generate diagnostic inferences and predictions; and presents this clinically actionable knowledge to pathologist through dynamic and integrated reports. Which enables physicians, laboratory personnel, and other health care system to make the best possible medical decisions. I will discuss the techniques for the automated tumor detection system within the new discipline of computational pathology, which will be useful for the future practice of pathology and, more broadly, medical practice in general.

E-learning system to improve the endoscopic diagnosis of early gastric cancer

  • Kenshi Yao;Takashi Yao;Noriya Uedo;Hisashi Doyama;Hideki Ishikawa;Satoshi Nimura;Yuichi Takahashi
    • Clinical Endoscopy
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    • v.57 no.3
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    • pp.283-292
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    • 2024
  • We developed three e-learning systems for endoscopists to acquire the necessary skills to improve the diagnosis of early gastric cancer (EGC) and demonstrated their usefulness using randomized controlled trials. The subjects of the three e-learning systems were "detection", "characterization", and "preoperative assessment". The contents of each e-learning system included "technique", "knowledge", and "obtaining experience". All e-learning systems proved useful for endoscopists to learn how to diagnose EGC. Lecture videos describing "the technique" and "the knowledge" can be beneficial. In addition, repeating 100 self-study cases allows learners to gain "experience" and improve their diagnostic skills further. Web-based e-learning systems have more advantages than other teaching methods because the number of participants is unlimited. Histopathological diagnosis is the gold standard for the diagnosis of gastric cancer. Therefore, we developed a comprehensive diagnostic algorithm to standardize the histopathological diagnosis of gastric cancer. Once we have successfully shown that this algorithm is helpful for the accurate histopathological diagnosis of cancer, we will complete a series of e-learning systems designed to assess EGC accurately.

Application of Diagnostic Laboratory Tests in the Field of Oral Medicine: A Narrative Review

  • Ji Woon, Park;Yeong-Gwan, Im
    • Journal of Korean Dental Science
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    • v.15 no.2
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    • pp.101-111
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    • 2022
  • The purpose of laboratory tests in the field of oral medicine can be divided into two categories: (1) medical evaluation of patients with systemic diseases that are planning to receive dental care and (2) diagnosis of patients with certain oral diseases. First, laboratory tests are commonly used to evaluate patients with systemic diseases who need dental management. A combination of multiple tests is usually prescribed as a test panel to diagnose and assess a specific disease. Test panels closely related to oral medicine include those for rheumatoid arthritis, connective tissue disease/lupus, liver function, thyroid screening, anemia, and bleeding disorders. Second, laboratory tests are used as auxiliary diagnostic methods for certain oral diseases. They often provide crucial diagnostic information for infectious diseases caused by bacteria, fungi, and viruses that are associated with pathology in the oral and maxillofacial regions. Laboratory tests for infectious diseases are composed of growth-dependent methods, immunologic assays, and molecular biology. As the field develops, further application of laboratory tests, including synovial fluid analysis in temporomandibular joint disorders, salivary diagnostics, and hematologic biomarkers associated with temporomandibular disorders and orofacial pain conditions, is currently under scrutiny for their reliability as diagnostic tools.

Comparison of Histopathology, Serology and PCR for the Diagnosis of Malignant Catarrhal Fever (Malignant Catarrhal Fever의 병리조직학적 진단과 혈청학적 진단 및 PCR 진단법의 비교)

  • Kim, Ok-jin;Crawford, Timothy B.
    • Korean Journal of Veterinary Research
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    • v.43 no.3
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    • pp.471-476
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    • 2003
  • Malignant catarrhal fever (MCF) is a systemic disease of ruminants caused by ovine herpesvirus 2 (OvHV-2). OvHV-2 is a gamma herpesvirus, which induces frequent latent infection and often difficult to detect its antigens and even specific nucleic acids because of its low viral copies in the infected tissues. Histopathology, serology and polymerase chain reaction (PCR) were compared for the diagnosis of MCF using 10 bison infected with OvHV-2. Histopathological diagnosis was performed using the criteria which was based upon the pathognomic lesions. Serological diagnosis was conducted using its serum with competitive ELISA for the detection of antibodies of OvHV-2. Also, the nest PCR was performed with peripheral blood leukocytes for the detection of OvHV-2-specific DNAs. Primers 556 and 775 were used for the primary amplification, and primers 556 and 555 were used for the secondary amplification. As the results, positive cases were 6 by histopahology, 9 by serology and 10 by PCR. As comparing with other diagnostic methods, PCR was found to be more sensitive than histopathology and serology. The recent development of molecular diagnostic assays has provided powerful tools for investigating how viruses survive in nature. Development of PCR specific for viruses has dramatically improved the accuracy of diagnosis of viruses in clinically infected animals. Furthermore, amplification of viral genomic material by nest PCR represents the most sensitive method for the detection of viruses and might be detected successfully even though very low viral DNA copies. So, it could be used as the first choice for the detection of viral DNAs with low copies such as the status of latent infection. However, it has also some limitation of application like as false negative results by PCR inhibitors and false positive results by contamination. The results of this study suggest that the use of molecular biological methods like PCR may increase the accuracy for the diagnosis of infectious diseases. However, in diagnostic laboratory, it is recommended that PCR assay must be conducted with other diagnostic methods for more reliable diagnosis.

Exonic copy number variations in rare genetic disorders

  • Man Jin Kim
    • Journal of Genetic Medicine
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    • v.20 no.2
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    • pp.46-51
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    • 2023
  • Exonic copy number variation (CNV), involving deletions and duplications at the gene's exon level, presents challenges in detection due to their variable impact on gene function. The study delves into the complexities of identifying large CNVs and investigates less familiar but recurrent exonic CNVs, notably enriched in East Asian populations. Examining specific cases like DRC1, STX16, LAMA2, and CFTR highlights the clinical implications and prevalence of exonic CNVs in diverse populations. The review addresses diagnostic challenges, particularly for single exon alterations, advocating for a strategic, multi-method approach. Diagnostic methods, including multiplex ligation-dependent probe amplification, droplet digital PCR, and CNV screening using next-generation sequencing data, are discussed, with whole genome sequencing emerging as a powerful tool. The study underscores the crucial role of ethnic considerations in understanding specific CNV prevalence and ongoing efforts to unravel subtle variations. The ultimate goal is to advance rare disease diagnosis and treatment through ethnically-specific therapeutic interventions.

CCNA1 Promoter Methylation: a Potential Marker for Grading Papanicolaou Smear Cervical Squamous Intraepithelial Lesions

  • Chujan, Suthipong;Kitkumthorn, Nakarin;Siriangkul, Sumalee;Mutirangura, Apiwat
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.18
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    • pp.7971-7975
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    • 2014
  • Background: From our previous study, we established that cyclin A1 (CCNA1) promoter methylation is strongly correlated with multistep progression of HPV-associated cervical cancer, suggesting potential use as a diagnostic maker of disease. Objectives: The purpose of the present study was to assess the prevalence of CCNA1 promoter methylation in residual cervical cells isolated from liquid-based cytology that underwent hrHPV DNA screening for cervical cancer, and then to evaluate this marker for diagnostic accuracy using parameters like sensitivity, specificity, predictive values and likelihood ratio. Methods: In this retrospective study, histopathology was used as the gold standard method with specimens separated into the following groups: negative (n=31), low-grade squamous intraepithelial lesions (LSIL, n=34) and high-grade squamous intraepithelial lesions or worse (HSIL+, n=32). The hrHPV was detected by Hybrid Capture 2 (HC2) and CCNA1 promoter methylation was examined by CCNA1 duplex methylation specific PCR. Results: The results showed the frequencies of CCNA1 promoter methylation were 0%, 5.88% and 83.33%, while the percentages of hrHPV were 66.67%, 82.35% and 100% in the negative, LSIL and HSIL+ groups, respectively. Although hrHPV infection showed high frequency in all three groups, it could not differentiate between the different groups and grades of precancerous lesions. In contrast, CCNA1 promoter methylation clearly distinguished between negative/LSIL and HSIL+, with high levels of all statistic parameters. Conclusion: CCNA1 promoter methylation is a potential marker for distinguishing between histologic negative/LSIL and HSIL+using cervical cytology samples.

Comparison Between Two Detection Methods for HPV16, HPV18 and P16Ink4a Biomarkers in Diagnosis of Abnormal Cervical Cytology

  • Khazaei, Sedigheh;Izadi, Babak;Mirbahari, Seyed Ghasem;Madani, Seyed Hamid;Khosravi, Shohre Malek;Alagha, Mohsen Emami;Sajadimajd, Soraya
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.12
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    • pp.5223-5227
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    • 2016
  • Background: Cervical cancer is the second most common cancer among women in many populations. While the Pap smear is a well established screening test it suffers from both false-positive and false-negative results in diagnosis of cancers and precancerous states. In this study, immunocytochemistry of the P16 biomarker and HPV-PCR were compared for their diagnostic potential. Materials and methods: In the study, we obtained pairs of specimens from 45 women with cervical dysplasia. One sample was placed in a liquid-based solution, and processed for staining of sections with antibodies to P16. HPV-PCR was performed on the other and the results obtained were analyzed by T-test using SPSS v. 15. Results: Using HPV-PCR 71% of the samples were found to be infected with either HPV 16 or HPV 18, and the rate of infection did not have a statistically significant relationship with higher grades of dysplasia (p= 0.253). In contrast, with immunocytochemistry evaluation of P16, 64% of the specimens were positive, but the percentage of positive results significantly increased with higher grades of dysplasia (p= 0.0001). Conclusion: Employment of the P16 marker as an optional test might be preferable over HPV-PCR for cervical dysplasia in our geographical region.

Circulating Cell-free miRNA Expression and its Association with Clinicopathologic Features in Inflammatory and Non-Inflammatory Breast Cancer

  • Hamdi, K;Blancato, J;Goerlitz, D;Islam, MD;Neili, B;Abidi, A;Gat, A;Ayed, F Ben;Chivi, S;Loffredo, CA;Jillson, I;Elgaaied, A Benammar;Marrakchi, R
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.4
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    • pp.1801-1810
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    • 2016
  • Recent discovery showing the presence of microRNAs (miRNAs) in the circulation sparked interest in their use as potential biomarkers. Our previous studies showed the diagnostic potential of miR-451 as a serological marker for inflammatory breast cancer (IBC), miR-337-5p and miR-30b for non-inflammatory breast cancer (non-IBC). The aim of this study is to investigate the prognostic values of circulating miRNAs by comparing the amounts of 12 circulating miRNAs in the serum of IBC and non-IBC from Tunisian breast cancer patients, and by determinating whether correlated pairs of miRNAs could provide useful information in the diagnosis of IBC and non-IBC patients. TaqMan qPCR was performed to detect circulating expression of miRNAs in serum of 20 IBC, 20 non-IBC and 20 healthy controls. Nonparametric rank Spearman rho correlation coefficient was used to examine the prognostic value of miRNAs and to assess the correlation profile between miRNAs expression. Further, a large number of miRNAs were highly correlated (rho>0.5) in both patients groups and controls. Also, the correlations profiles were different between IBC, non-IBC and healthy controls indicating important changes in molecular pathways in cancer cells. Our results showed that miR-335 was significantly overexpressed in premenopausal non-IBC patients; miR-24 was significantly overexpressed in non-IBC postmenopausal patients. Patients with previous parity had higher serum of miR-342-5p levels than those without. Furthermore, patients with HER2+ IBC present lower serum levels of miR-15a than patients with HER2-disease. Together, these results underline the potential of miRNAs to function as diagnostic and prognostic markers for IBC and non-IBC, with links to the menopausal state, Her2 status and parity.

In situ PCR for the Detection of Alcelaphine Herpesvirus-l and Comparison with other Molecular Biological Diagnostic Methods (In situ PCR에 의한 alcelaphine herpesvirus-l (AHV-l)의 진단법 개발 및 다른 분자생물학적 진단법들과의 비교)

  • Kim, Ok-Jin
    • Korean Journal of Veterinary Pathology
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    • v.6 no.1
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    • pp.1-5
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    • 2002
  • A1celaphine herpesvirus 1 (AHV-1) is a causative agent of malignant catarrhal fever which is a fatal and a lymphoproliferative syndrome. AHV-1 is a gamma herpesvirus, which induces frequent latent infection and often difficult to detect its antigens or specific nucleic acids because of its low viral copies in the infected tissues. A new method, in situ PCR, is developed for the detection of AHV-1 nucleic acid in this study. Target sequences of AHV-1 open reading frame 50 gene were detected within AHV-1 infected MDBK cells. As compare with other molecular biological methods for the detection of AHV-1, in situ PCR was found to be more sensitive than in situ hybridization and to be less sensitive than nested PCR. However, nested PCR cannot afford to observe and differentiate AHV-1 infected cells. In situ PCR amplifies a target sequence within cells that can be visualized microscopically with increased sensitivity compared to detection by in situ hybridization. In situ PCR has wide applications for sensitive localization of low copy AHV-1 viral sequences within cells to investigate the role of viruses in a variety of clinical conditions and also provide the rapid, sensitive, and specific detection of AHV-1 infection.

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