• 제목/요약/키워드: Molecular diagnostic techniques

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Molecular Pathology of Lung Cancer: Current Status and Future Directions

  • Roh, Mee Sook
    • Tuberculosis and Respiratory Diseases
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    • 제77권2호
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    • pp.49-54
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    • 2014
  • The rapid development of targeted therapies has enormously changed the clinical management of lung cancer patients over the past decade; therefore, molecular testing, such as epidermal growth factor receptor (EGFR) gene mutations or anaplastic lymphoma kinase (ALK) gene rearrangements, is now routinely used to predict the therapeutic responses in lung cancer patients. Moreover, as technology and knowledge supporting molecular testing is rapidly evolving, the landscape of targetable genomic alterations in lung cancer is expanding as well. This article will summarize the current state of the most commonly altered and most clinically relevant genes in lung cancer along with a brief review of potential future developments in molecular testing of lung cancer.

Diffusion-Weighted MRI for the Assessment of Molecular Prognostic Biomarkers in Breast Cancer

  • Mami Iima;Masako Kataoka;Maya Honda;Denis Le Bihan
    • Korean Journal of Radiology
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    • 제25권7호
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    • pp.623-633
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    • 2024
  • This study systematically reviewed the role of diffusion-weighted imaging (DWI) in the assessment of molecular prognostic biomarkers in breast cancer, focusing on the correlation of apparent diffusion coefficient (ADC) with hormone receptor status and prognostic biomarkers. Our meta-analysis includes data from 52 studies examining ADC values in relation to estrogen receptor (ER), progesterone receptor (PgR), human epidermal growth factor receptor 2 (HER2), and Ki-67 status. The results indicated significant differences in ADC values among different receptor statuses, with ER-positive, PgR-positive, HER2-negative, and Ki-67-positive tumors having lower ADC values compared to their negative counterparts. This study also highlights the potential of advanced DWI techniques such as intravoxel incoherent motion and non-Gaussian DWI to provide additional insights beyond ADC. Despite these promising findings, the high heterogeneity among the studies underscores the need for standardized DWI protocols to improve their clinical utility in breast cancer management.

Molecular methods for diagnosis of microbial pathogens in muga silkworm, Antheraea assamensis Helfer (Lepidoptera: Saturniidae)

  • Gangavarapu Subrahmanyam;Kangayam M. Ponnuvel;Kallare P Arunkumar;Kamidi Rahul;S. Manthira Moorthy;Vankadara Sivaprasad
    • International Journal of Industrial Entomology and Biomaterials
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    • 제47권1호
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    • pp.1-11
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    • 2023
  • The Indian golden muga silkworm, Antheraea assamensis Helfer is an economically important wild silkworm endemic to Northeastern part of India. In recent years, climate change has posed a threat to muga silk production due to the requirement that larvae be reared outdoors. Since the muga silkworm larvae are exposed to the vagaries of nature, the changing climate has increased the incidence of microbial diseases in the rearing fields. Accurate diagnosis of the disease causing pathogens and its associated epidemiology are prerequisites to manage the diseases in the rearing field. Although conventional microbial culturing methods are widely used to identify pathogenic bacteria, they would not provide meaningful information on a wide variety of silkworm pathogens. The information on use of molecular diagnostic tools in detection of microbial pathogens of wild silk moths is very limited. A wide range of molecular and immunodiagnostic techniques including denaturing gradient gel electrophoresis (DGGE), random amplified polymorphism (RAPD), 16S rRNA/ITSA gene sequencing, multiplex polymerase chain reaction (M-PCR), fluorescence in situ hybridization (FISH), immunofluorescence, and repetitive-element PCR (Rep-PCR), have been used for detecting and characterizing the pathogens of insects with economic significance. Nevertheless, the application of these molecular tools for detecting and typing entomopathogens in surveillance studies of muga silkworm rearing is very limited. Here, we discuss the possible application of these molecular techniques, their advantages and major limitations. These methods show promise in better management of diseases in muga ecosystem.

Poultry Coccidiosis-A Concurrent Overview on Etiology, Diagnostic Practices, and Preventive Measures

  • Nawarathne, Shan Randima;Yu, Myunghwan;Heo, Jung Min
    • 한국가금학회지
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    • 제48권4호
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    • pp.297-318
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    • 2021
  • Coccidiosis is a major parasitic disease in the poultry industry, with great economic implications worldwide. It is a ubiquitous protozoan infection caused by several species of the genus Eimeria (host-specific) that colonize and reproduce in the intestine of birds, ultimately altering the health and performance of the flock. At present, several methods are used to diagnose coccidiosis in poultry, including field and laboratory techniques (intestinal lesion scoring, oocyst counting in feces, and biochemical and molecular diagnosis). Traditionally, diagnosed flocks have been treated either by vaccination to improve the active immunity of the birds against coccidiosis or supplementation of prophylactic anticoccidials to ameliorate the deleterious effects of coccidiosis. However, these methods has certain drawbacks such as vaccine-induced coccidiosis, drug resistance, and residual drug accumulation in the host. Consequently, alternative safe anti-coccidial agents, including the use of phytogenic compounds, have been explored for preventing coccidiosis. Here, we provide a simple overview of the literature on poultry coccidiosis by focusing on the etiology, diagnostic practices, and preventive measures.

세포병리학적 기초에 의한 암진단의 발전: 진단방법과 보조기법 (Recent Advances in Cancer Diagnosis: On an Overview of Diagnostic Cytopathologic Modalities and Ancillary Techniques)

  • 김기태;함의근
    • 대한세포병리학회지
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    • 제7권1호
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    • pp.1-11
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    • 1996
  • 19세기말과 20세기초에 각각 비르효와 파파니콜로에 의해 명료하게 된 세포 병리학과 탈락세포학의 개념에서 오늘날의 암진단의 일차적인 방법이 발전해 왔다. 파파니콜로의 탈락세포학의 개념에서 1960년대 초반에 세침흡인 세포검사가 개발되었다. 이 세침흡인 세포검사는 주된 진단방법이 되어져, 절개생검을 감소하게 하고 의료비용의 효과적인 이용에 공헌하였다. 1980년대에는 면역생화학적 기술들이 암 진단에 보충역활을 하게 되었다. 단 클론 항체를 이용하는 면역과산화효소법이 먼저 암의 본성을 밝히는 보조적인 방법으로 쓰여졌다. 특정 단클론 항체들이 이용가능하게 되어 세포산물이나 표면 표지자들을 인지하는 것을 훨씬 용이하게 하였다. 예를 들면 중간세사에 대한 항체들이 분화가 나쁜 종양의 조직기원을 결정하는데 가치가 있는 것이 증명되었다. 종양표지자들은 종양존재의 생화학적 표시자로 이용될 수도 있는데 이러한 종양표지자들은 혈장이나 다른 체액들에서 검출할 수 있다. 이 종양표지자들을 농출한 것을 진단적 검사에 이용하여 이미 진단된 암의 임상 경과를 추적하고 암 발생의 위험이 있는 집단에서 특정 종양을 발견해 내기 위한 선별검사로써 이용할 수 있다. 유세포 검사는 백혈병이나 림프종 세포들의 면역표현형을 알아내고, 종양세포들의 DNA함유량을 알아내며, 세포증식율을 알아내는 등의 몇가지의 세포의 특성을 분류해내는데 유용한 도구이다. 분자생물학적 방법들은, 암 환자를 진료하는데 있어 진단, 예후평가 및 치료 등의 분야에서 일보 전진하게 하였다. 핵산교잡법이 Southern blots, Nothern blot, Dot blot 및 in situ hybridization으로 이용된다. 분자생물학 및 그 기술이 암종 생물학을 이해하고 유전자 조작을 기초로한 치료법을 계획하는데 밝은 새로운 지평선을 열어줄 수 있을 것이다.

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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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    • 제15권2호
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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.

PHA-Induced Peripheral Blood Cytogenetics and Molecular Anslysis : a Valid Diagnostic and Follow-up Modality For Acute Primyelocytic Leukemia Patients Treated With ATRA and/or Arsenic Tri-oxide

  • Baba, Shahid M;Azad, Niyaz A;Shah, Zaffar A;Afroze, Dil;Pandith, Arshad A;Jan, Aleem;Aziz, Sheikh A;Dar, Fayaz A
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권4호
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    • pp.1999-2006
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    • 2016
  • Background: Acute promyelocytic leukemia (APML) is characterized by the reciprocal translocation t(15;17) (p22;p12) resulting in the PML-$RAR{\alpha}$ fusion gene. A dual diagnostic and follow up approach was applied including cytogenetic demonstration of the t(15;17) translocation and detection dg PML-$RAR{\alpha}$ chimeric transcripts by molecular means. Purpose: Conventional cytogenetics involving bone marrow is beset with high probability of poor metaphase index and was substituted with phytohemagglutinin (PHA)-induced peripheral blood culture based cytogenetic analysis as a diagnostic & follow up modality in APML patients of Kashmir (North India). Both qualitative (RT-PCR) and quantitative (Q-PCR) tests were simultaneously carried out to authenticte the modified cytogenetics. Materials and Method: Patient samples were subjected to the said techniques to establish their baseline as well as follow-up status. Results: Initial cytogenetics revealed 30 patients (81%) Positive for t(15;17) whereas 7 (19%) had either cryptic translocation or were negative for t(15;17). Two cases had chromosome 16q deletion and no hallmark translocation t(15;17). Q-PCR status for PML-$RAR{\alpha}$ was found to be positive for all patients. All the APML patients were reassessed at the end of consolidation phase and during maintenance phase of chemotherapy where 6 patients had molecular relapse, wherein 4 also demonstrated cytogenetic relapse. Conclusions: It was found that PHA-induced peripheral blood cytogenetics along with molecular analysis could prove a reliable modality in the diagnosis and assessment of follow up response of APML patients.

Diagnosis and Treatment of Extrapulmonary Tuberculosis

  • Lee, Ji Yeon
    • Tuberculosis and Respiratory Diseases
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    • 제78권2호
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    • pp.47-55
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    • 2015
  • Extrapulmonary tuberculosis (EPTB) constitutes about 20% of all cases of tuberculosis (TB) in Korea. Diagnosing EPTB remains challenging because clinical samples obtained from relatively inaccessible sites may be paucibacillary, thus decreasing the sensitivity of diagnostic tests. Whenever practical, every effort should be made to obtain appropriate specimens for both mycobacteriologic and histopathologic examinations. The measurement of biochemical markers in TB-affected serosal fluids (adenosine deaminase or gamma interferon) and molecular biology techniques such as polymerase chain reaction may be useful adjuncts in the diagnosis of EPTB. Although the disease usually responds to standard anti-TB drug therapy, the ideal regimen and duration of treatment have not yet been established. A paradoxical response frequently occurs during anti-TB therapy. It should be distinguished from other causes of clinical deterioration. Surgery is required mainly to obtain valid diagnostic specimens and to manage complications. Because smear microscopy or culture is not available to monitor patients with EPTB, clinical monitoring is the usual way to assess the response to treatment.

Tumor-associated autoantibodies as diagnostic and prognostic biomarkers

  • Heo, Chang-Kyu;Bahk, Young Yil;Cho, Eun-Wie
    • BMB Reports
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    • 제45권12호
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    • pp.677-685
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    • 2012
  • In the process of tumorigenesis, normal cells are remodeled to cancer cells and protein expression patterns are changed to those of tumor cells. A newly formed tumor microenvironment elicits the immune system and, as a result, a humoral immune response takes place. Although the tumor antigens are undetectable in sera at the early stage of tumorigenesis, the nature of an antibody amplification response to antigens makes tumor-associated autoantibodies as promising early biomarkers in cancer diagnosis. Moreover, the recent development of proteomic techniques that make neo-epitopes of tumor-associated autoantigens discovered concomitantly has opened a new area of 'immuno-proteomics', which presents tumor-associated autoantibody signatures and confers information to redefine the process of tumorigenesis. In this article, the strategies recently used to identify and validate serum autoantibodies are outlined and tumor-associated antigens suggested until now as diagnostic/prognostic biomarkers in various tumor types are reviewed. Also, the meaning of autoantibody signatures and their clinical utility in personalized medicine are discussed.

Data Mining Techniques for Medical Informatics: Application to SNP Analysis

  • 천세학;김진;박윤주;함기백;천세철
    • 한국지능정보시스템학회:학술대회논문집
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    • 한국지능정보시스템학회 2005년도 공동추계학술대회
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    • pp.258-263
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    • 2005
  • Haplotype-based analysis using high-density SNP markers have gained a great attention in evaluating genes in gene analysis and various clinical situations. However, there has been no research on disease diagnostic modeling based on SNPs analysis to our knowledge. The purpose of this study is to explore how knowledge discovery techniques are applied in medical informatics area and proposes a Case Based Reasoning (CBR) technique for diagnosis of gastric caner using Single Nucleotide Polymorphism(SNP).

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