• Title/Summary/Keyword: clinical diagnostics

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Characterization of CEBPA Mutations and Polymorphisms and their Prognostic Relevance in De Novo Acute Myeloid Leukemia Patients

  • Sarojam, Santhi;Raveendran, Sureshkumar;Vijay, Sangeetha;Sreedharan, Jayadevan;Narayanan, Geetha;Sreedharan, Hariharan
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.9
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    • pp.3785-3792
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    • 2015
  • The CCAAT/enhancer-binding protein-alpha (CEBPA) is a transcriptional factor that plays a crucial role in the control of proliferation and differentiation of myeloid precursors. This gene was recognized as the target of genetic alterations and were associated with clinical complexity among AML. We here analyze the frequency and types of CEBPA mutations and polymorphisms in a de novo AML patients from South India and tried to find out associations of these variations with different clinical parameters and the prognostic significance in AML. Study was carried out in 248 de novo AML patients, cytogenetic analysis was performed from the bone marrow samples and was karyotyped. PCR-SSCP analysis and sequencing was performed for the detection of CEBPA gene variations. All the statistical analysis was performed using SPSS 17 (statistical package for social sciences) software. Pearson Chi-square test, Mann-Whitney U test, Kaplan-Meier survival analysis and log rank tests were performed. CEBPA mutations were detected in 18% and CEBPA polymorphisms were detected in 18.9% of AML cases studied. Most of the mutations occured at the C terminal region. Polymorphisms were detected in both N and C terminal region. with most common being, c.584_589dup ACCCGC and c.690G>T. A significant association was not observed for the mutation and polymorphism with respect to clinical and laboratory parameters. Survival advantage was observed for the mutated cases compared to non mutated cases, especially for the normal karyotype groups. Polymorphisms has no effect on the survival pattern of AML patients. CEBPA mutation and polymorphisms were observed with similar frequency and was identified in all the FAB subtypes as well as in cytogenetic risk groups in our study population, but CEBPA mutations alone confer a prognostic value for NK AML patients.

Development of Questionnaire for Damum Patternization (담음변증(痰飮辨證) 설간(設間) 개발(開發))

  • Park, Jae-Sung;Yang, Dong-Hoon;Kim, Min-Yong;Lee, Sang-Chul;Park, Yong-Jae;Park, Yeong-Bae
    • The Journal of the Society of Korean Medicine Diagnostics
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    • v.10 no.1
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    • pp.64-77
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    • 2006
  • Objectives Damum is a general and fundamental concept in Oriental me야cine that deals with symptoms of diseases. but as far as Damum is concerned there has not been significant researches in terms of clinical medicine but only researches in the field of medical story. Therefore hopefully this study could contributes to the development of Damum which is very essential concept in Oriental medicine. Methods First of all we have made basic twenty-three items list through conducting researches on documents in regards to Damum, and finally designed twenty-nine survey inquiry by so called Delphi study-method that is based on opinions of professional groups. we have conducted a survey of twenty-nine inquirys on sixty-one cases and asked three Oriental medical doctors who are Damum specialists to diagnose and measure clinical values regarding Damum, followed by studying interrelationship between survey results and clinical values. conclusively we have made out a final Damum questionnaire form by selecting significant question items based on the results of the study. Results According to the analysis of the studies, fourteen question items were selected. Conclusions As far as Damum discriminant is concerned, additional verifing processes are needed to be carried out through more clinical cases. And it is through that more clinical studies are needed to be done in regards to Damum.

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siRNA Silencing EZH2 Reverses Cisplatin-resistance of Human Non-small Cell Lung and Gastric Cancer Cells

  • Zhou, Wen;Wang, Jian;Man, Wang-Ying;Zhang, Qing-Wei;Xu, Wen-Gui
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.6
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    • pp.2425-2430
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    • 2015
  • Clinical resistance to chemotherapeutic agents is one of the major hindrances in the treatment of human cancers. EHZ2 is involved in drug resistance and is overexpressed in drug-resistant cancer cell lines. In this study, we investigated the effects of EHZ2 on cisplatin -resistance in A549/DDP and AGS/DDP cells. EHZ2 mRNA and protein were found to be significantly overexpressed in A549/DDP and AGS/DDP cells, compared to parental cells. EHZ2 siRNA successfully silenced EHZ2 mRNA and protein expression. Proliferation was inhibited and drug resistance to cisplatin was improved. Flow cytometry showed that silencing of EHZ2 arrested A549/DDP and AGS/DDP cells in the G0/G1 phase, increasing apoptosis, rh-123 fluorescence intensity and caspase-3/8 activities. Silencing of EHZ2 also significantly reduced the mRNA and protein expression levels of cyclin D1 and MDR1,while up-regulating p15, p21, p27 and miR-218 in A549/DPP cells. Furthermore, silencing of EHZ2 also significantly increased the expression level of tumor suppressor factor miR-218. We also found down-regulating EHZ2 expression increased methylation in A549/DDP and AGS/DDP cells. This study demonstrates that drug resistance can be effectively reversed in human cisplatin-resistant lung and gastric cancer cells through delivery of siRNAs targeting EHZ2.

Bioinformatics and Genomic Medicine (생명정보학과 유전체의학)

  • Kim, Ju-Han
    • Journal of Preventive Medicine and Public Health
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    • v.35 no.2
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    • pp.83-91
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    • 2002
  • Bioinformatics is a rapidly emerging field of biomedical research. A flood of large-scale genomic and postgenomic data means that many of the challenges in biomedical research are now challenges in computational sciences. Clinical informatics has long developed methodologies to improve biomedical research and clinical care by integrating experimental and clinical information systems. The informatics revolutions both in bioinformatics and clinical informatics will eventually change the current practice of medicine, including diagnostics, therapeutics, and prognostics. Postgenome informatics, powered by high throughput technologies and genomic-scale databases, is likely to transform our biomedical understanding forever much the same way that biochemistry did a generation ago. The paper describes how these technologies will impact biomedical research and clinical care, emphasizing recent advances in biochip-based functional genomics and proteomics. Basic data preprocessing with normalization, primary pattern analysis, and machine learning algorithms will be presented. Use of integrated biochip informatics technologies, text mining of factual and literature databases, and integrated management of biomolecular databases will be discussed. Each step will be given with real examples in the context of clinical relevance. Issues of linking molecular genotype and clinical phenotype information will be discussed.

Nanotechnology in Cancer Therapy: Overview and Applications

  • Choi, Eun-Joo
    • Journal of Pharmaceutical Investigation
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    • v.41 no.2
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    • pp.59-65
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    • 2011
  • Nanotechnology for cancer therapy is playing a pivotal role in dramatically improving current approaches to cancer detection, diagnosis, and therapy while reducing toxic side effects associated with previous cancer therapy. A widespread understanding of these new technologies will lead to develop the more refined design of optimized nanoparticles with improved selectivity, efficacy and safety in the clinical practice of oncology. This review provides an integrated overview of applications and advances of nanotechnology in cancer therapy, based on molecular diagnostics, treatment, monitoring, target drug delivery, approved nanoparticle-based chemotherapeutic agents, and current clinical trials in the development of nanomedicine and ultimately personalized medicine.

Sharing Experiences in Selecting Clinical Outcome and Approving Validated Questionnaires : Insights from an Elderly Registry Study (노인등록연구 사례를 통한 임상평가지표 선정 과정 및 검증된 설문도구 승인 경험의 공유)

  • Nahyun Cho;Hyungsun Jun;Won-Bae Ha;Junghan Lee;Mi Mi Ko;Young-Eun Kim;Jeeyoun Jung;Jungtae Leem
    • The Journal of Korean Medicine
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    • v.45 no.1
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    • pp.17-43
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    • 2024
  • Objectives: Underpinned by the context of a Korean traditional medicine cohort study on healthy aging, this research primarily aims to guide the selection of Clinical Outcome Assessments (COAs) for elderly healthy aging patient registry research, offering insights into the selection process; and secondly, to streamline the resource-intensive process of obtaining permissions for validated COAs, benefiting future traditional Korean medicine clinical researchers. Methods : In this study, we identified outcomes through a review of previous studies, followed by a process involving expert consultations to select the final outcomes. Subsequently, for the selected outcomes that were Clinical Outcome Assessments (COAs) developed tools, we searched in commercial databases to confirm the availability of Korean versions and the necessity of obtaining permissions. Finally, we obtained permissions for their utilization and, when needed, acquired the original instrument questionnaire through payment. Results: Through a literature review of existing observational studies, a total of 57 outcomes were selected, with 19 of them identified as COA instruments. Upon verifying usage permissions for these 19 instruments, it was found that 17 required author-specific permissions, and among these, 2 needed a purchase as they were commercially available. Conclusion: This study provides a detailed overview of outcome selection and permission acquisition for elderly patient registry research. It underscores the importance of Clinical Outcome Assessment (COA) tools and the rigorous approval process, aiming to enhance research reliability. Continuous verification of COA information is essential, and future research should explore Core Outcome Set (COS) development through consensus-building approaches like Delphi studies.

Species Identification of Nontuberculous Mycobacteria (NTM) by PCR-Restriction Fragment Length Polymorphism (PRA) of the rpoB Gene from Three Hospitals of Busan-Kyeongnam Area

  • Choi, Sung-Ran;Kang, Min-Jung;Park, Gyu-Hwan;Kim, Da-Hye;Jeong, Da-Woon;Seo, Eun-Hye;Lee, Hyang-Min;Park, Hyun-Kyung;Jeong, Jin-Yee;Lee, Jung-Min;Jeong, Soo-Young;Lee, Jun-Young;Cho, Eun-Jin;Jekal, Suk;Kim, Chung-Hwan
    • Korean Journal of Clinical Laboratory Science
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    • v.45 no.2
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    • pp.48-53
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    • 2013
  • Recently, the isolation rate of nontuberculous mycobacteria (NTM) in clinical laboratories and the incidence of NTM infections are on the increase in Korea, but there have been only a few studies that reveal the general aspect of NTM isolation or species distribution. Therefore, this study was performed to examine the species identification by PCR-restriction fragment length polymorphism analysis (PRA, PCR-RFLP), and the clinical significance of mycobacterial cultures. PRA was used during the novel region of the rpoB gene and was developed for rapid and precise identification of mycobacteria to the species level. From January 2012 to April 2012, we examined pre-identified nontuberculous mycobacteria (60 species in 3 hospital of Busan-Kyeongnam area). We confirmed 4 (6.6%) Mycobacterium tuberculosis (MTB) and 56 (93.4%) NTM from 60 pre-identified NTM species by multiplex PCR (MolecuTech $MTB-ID^R$ V3, YD Diagnostics, Korea) and PRA (Myco-ID, YD Diagnostics, Korea). The distribution of 56 NTM species were M. intracellulare type I 15 (26.7%), M. avium 14 (25%), M. abscessus 11 (19.5%), M. kansasii type I 3 (5.4%), M. pulveris 2 (3.6%), M. intracellulare type, M. chelonae, M. kansasii type V, M. gallinarum, M. wolinskyi. Respectively, 1 (1.8%) and 6 (10.7%) species were not identified.

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Meningococcal Disease and Quadrivalent MenACWY-CRM Vaccine (Menveo®)

  • Tsai, Theodore F.
    • Pediatric Infection and Vaccine
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    • v.19 no.3
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    • pp.89-110
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    • 2012
  • Meningococcal Disease, manifesting as meningitis and septicemia, is a life-threatening bacterial infection that results in significant morbidity and mortality, particularly in childhood. Its epidemic potential and limited opportunities for clinical intervention due to its rapid course present unique public health and clinical challenges. Incidence is highest in infants and young children, with a secondary peak of risk in adolescents. Approximately 10% of cases are fatal and survivors can be left with serious and permanent sequelae including amputations, hearing loss and cognitive impairment. Transmission is only from human-to-human, by infected respiratory tract secretions or saliva and therefore crowding poses a tremendously elevated risk for disease development. Military recruits and university students are at high risk due to the high carriage rate in adolescents, their behavior patterns and close contact. Menveo$^{(R)}$ (Novartis Vaccines and Diagnostics), a novel quadrivalent meningococcal conjugate vaccine directed against meningococcal serogroups A, C, W-135 and Y, has been shown to be immunogenic and well tolerated in all age groups and was recently licensed for use in Korea. Recent cases and deaths among military recruits drew public attention to their elevated risk and the Korean government has recommended vaccination of all new military recruits. Many Korean students seek to attend school, university, or language institutes in countries where routine meningococcal vaccination is required - clinicians should be aware of such requirements to ensure that students are vaccinated prior to arrival in the destination country.

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Preceding Studies for Questionnaires on Han-Yol Patternization (한열변증 설문지 개발을 위한 한열 고찰)

  • Bae, No-Soo;Park, Young-Jae;Oh, Hwan-Sup;Park, Young-Bae
    • The Journal of the Society of Korean Medicine Diagnostics
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    • v.9 no.1
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    • pp.98-111
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    • 2005
  • Background and purpose: The Han(cold)-Yol(heat) patternization is one of the most usually used diagnostic methods in oriental medicine. This is preceding studies for compensating questionnaries on Han-Yol that were made by sook-kyeng Kim. Methods: Questionnaries on Han-Yol that will be worked out should be useful for clinical examination. So We selected symptoms based on Donguibogam that is regarded as a clinical textbook in Korea. Results: It is expected that not only Sil-Yol but also Hu-Yol and Yol combined with Han can be diagnosed by new questionnaries. Conclusion: These symptoms based on Donguibogam will be made into questionnaries that can diagnose not only Sil-Yol but also Hu-Yol and Yol combined with Han.

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DNAchip as a Tool for Clinical Diagnostics (진단의학 도구로서의 DNA칩)

  • 김철민;박희경
    • Proceedings of the Korean Institute of Intelligent Systems Conference
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    • 2004.04a
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    • pp.97-100
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    • 2004
  • The identification of the DNA structure as a double-stranded helix consting of two nucleotide chain molecules was a milestone in modern molecular biology. The DNA chip technology is based on reverse hybridization that follows the principle of complementary binding of double-stranded DNA. DNA chip can be described as the deposition of defined nucleic acid sequences, probes, on a solid substrate to form a regular array of elements that are available for hybridization to complementary nucleic acids, targets. DNA chips based on cDNA clons, oligonucleotides and genomic clons have been developed for gene expression studies, genetic variation analysis and genomic changes associated with disease including cancers and genetic diseases. DNA chips for gene expression profiling can be used for functional analysis in human eel Is and animal models, disease-related gene studies, assessment of gene therapy, assessment of genetically modified food, and research for drug discovery. DNA chips for genetic variation detection can be used for the detection of mutations or chromosomal abnormalities in cnacers, drug resistances in cancer cells or pathogenic microbes, histocompatibility analysis for transplantation, individual identification for forensic medicine, and detection and discrimination of pathogenic microbes. The DNA chip will be generalized as a useful tool in clinical diagnostics in near future. Lab-on-a chip and informatics will facilitate the development of a variety of DNA chips for diagnostic purpose.

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