• Asian Pacific Journal of Cancer Prevention
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• v.17 no.9
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• pp.4259-4265
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• 2016

Background: Colorectal malignancies with high microsatellite instability (MSI-H), either hereditary (Lynch syndrome) or sporadic, demonstrate better prognosis and altered response to 5FU chemotherapy. It is now recommended to perform MSI testing for all new cases of colorectal cancer regardless of being categorized as hereditary or sporadic. For MSI detection, immunohistochemistry or PCR-based protocols using a cohort of various sets of STR markers are recommended. Here we aimed to evaluate a simplified protocol using just a single STR marker, MT1XT20 mononucleotide repeat, for detection of MSI in Lynch syndrome patients. A Promega five-marker MSI testing panel and immunohistochemistry (IHC) were used as the gold standard in conjunction with MT1XT20. Materials and Methods: Colorectal patients with a positive history of familial cancers were selected by evaluating medical records. Based on Amsterdam II criteria for Lynch syndrome 20 families were short listed. DNA was extracted from formalin fixed paraffin embedded tumour and adjacent normal tissues resected from the index case in each family. Extracted DNA was subjected to MT1XT20 mononucleotide marker analysis and assessment with a commercially available five marker MSI testing kit (Promega, USA). IHC also was performed on tissue sections and the results were compared with PCR based data. Results: Eight (40%), seven (35%) and five (25%) cases were MSI positive using with the Promega kit, IHC and MT1XT20, respectively. Among the markers included in Promega kit, BAT26 marker showed instability in all 8 samples. NR24 and NR21 markers showed instability in 7 (87.5%), and BAT25 and MONO 27 in 6 (75%) and 5 (62.5%). Conclusions: Although MT1XT20 was earlier reported as a valid standalone marker for MSI testing in CRC patients, we could not verify this in our Iranian patients. Instead BAT26 among the markers included in Promega MSI testing kit showed instability in all 8 MSI-H CRC samples. Therefore, it seems BAT26 could act well as a single marker for MSI testing in Iranian CRC patients.

• Korean Circulation Journal
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• v.53 no.10
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• pp.693-707
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• 2023

Background and Objectives: Inherited arrhythmia (IA) is a more common cause of sudden cardiac death in Asian population, but little is known about the genetic background of Asian IA probands. We aimed to investigate the clinical characteristics and analyze the genetic underpinnings of IA in a Korean cohort. Methods: This study was conducted in a multicenter cohort of the Korean IA Registry from 2014 to 2017. Genetic testing was performed using a next-generation sequencing panel including 174 causative genes of cardiovascular disease. Results: Among the 265 IA probands, idiopathic ventricular fibrillation (IVF) and Brugada Syndrome (BrS) was the most prevalent diseases (96 and 95 cases respectively), followed by long QT syndrome (LQTS, n=54). Two-hundred-sixteen probands underwent genetic testing, and 69 probands (31.9%) were detected with genetic variant, with yield of pathogenic or likely pathogenic variant as 6.4%. Left ventricular ejection fraction was significantly lower in genotype positive probands (54.7±11.3 vs. 59.3±9.2%, p=0.005). IVF probands showed highest yield of positive genotype (54.0%), followed by LQTS (23.8%), and BrS (19.5%). Conclusions: There were significant differences in clinical characteristics and genetic yields among BrS, LQTS, and IVF. Genetic testing did not provide better yield for BrS and LQTS. On the other hand, in IVF, genetic testing using multiple gene panel might enable the molecular diagnosis of concealed genotype, which may alter future clinical diagnosis and management strategies.

• Development and Reproduction
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• v.27 no.1
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• pp.47-56
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• 2023

Despite the commercialization of Next generation sequencing (NGS) gene testing, only a few studies have addressed the various ethical and legal problems associated with NGS testing in Korea Here, we reviewed the normative issues that emerged at each stage of the wet analysis and bioinformatics analysis of NGS gene testing. In particular, it was in mind to apply various international guidelines and the principles of bioethics to actual clinical practice. Considering the characteristics of NGS testing, wet analysis of additional testing can be justified if presumptive consent is recognized. Furthermore, the medical relationship between diseases needs to be established and it should be clear that the patient would have given consent if the patient had been aware of the correlation between genes. At the stage of bioinformatics analysis, the question of unsolicited findings arises. In case of unsolicited and relevant findings, according to American College of Medical Genetics and Genomics (ACMG), a recognized relationship between genes and diseases needs to be established. In case of unsolicited and not-relevant findings, it is almost impossible to determine whether knowing or not knowing the findings is more beneficial to the patient. However, it seems to be certain that the psychological harm an individual may suffer from such information is likely to be greater if the disease is severe and if there is no cure. The list of genes for which the ACMG guidelines impose reporting obligations is a good reference for judgment.

• Journal of Preventive Medicine and Public Health
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• v.51 no.2
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• pp.64-70
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• 2018

Objectives: In most countries around the world, sex work is an illegal activity. Female sex workers (FSWs) in Iran hide their identities, and they are known to be a hard-to-reach population. Despite free access to HIV testing, fewer than half of FSWs receive HIV testing. The purpose of this study was to characterize the reasons for which FSWs do not seek testing at drop-in centers (DICs) and voluntary counseling and testing (VCT) centers in Iran. Methods: A qualitative study was conducted in 2016. The participants were 24 FSWs who received services at VCT centers and DICs for vulnerable females in the north of Iran and 9 males who were the clients of FSWs. In this study, we made use of purposive sampling and carried out a thematic analysis. Results: We found 4 major and 6 minor themes. The major themes were: fear of being infected (with HIV), stigma, indifference, and knowledge. Conclusions: Despite the significant efforts made by the government of Iran to establish and expand DICs for vulnerable females, the number of FSWs receiving services at these centers has not been very considerable. Consequently, by introducing and implementing training programs for peer groups, it may be possible to take steps toward establishing strategic programs for the control and prevention of HIV/AIDS.

• Tuberculosis and Respiratory Diseases
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• v.79 no.3
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• pp.134-142
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• 2016

In recent years, in spite of medical advancement, tuberculosis (TB) remains a worldwide health problem. Although many laboratory methods have been developed to expedite the diagnosis of TB, delays in diagnosis remain a major problem in the clinical practice. Because of the slow growth rate of the causative agent Mycobacterium tuberculosis, isolation, identification, and drug susceptibility testing of this organism and other clinically important mycobacteria can take several weeks or longer. During the past several years, many methods have been developed for direct detection, species identification, and drug susceptibility testing of TB. A good understanding of the effectiveness and practical limitations of these methods is important to improve diagnosis. This review summarizes the currently-used advances in non-molecular and molecular diagnostics.

• Korean Medical Education Review
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• v.16 no.1
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• pp.50-54
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• 2014

It is becoming increasingly important for medical doctors to have a thorough understanding of human genetics and the ethical, legal, and social implications of genetic testing, counseling, and treatment. As genetic engineering and technology evolves, medical doctors will find themselves called in to counsel patients about a rapidly increasing number of diseases for which genetic testing and treatments are available. Medical doctors will need to master a new set of principles and clinical skills. A lack of knowledge about these issues and problems may lead to serious, lifelong or even fatal negative effects on patients. Medical genetics has moved from the study of rare conditions to the illumination of disorders that impact the entire spectrum of medical practice. This study demonstrates several areas in which medical genetics is clearly an important tool in medical practice and the necessity of establishing new curriculum for clinical genetic education in Korea. Medical students nearing graduation may lack genetic knowledge that is essential for daily practice because genetics has little or no place in clinical teaching. Medical schools should make extensive curriculum changes to increase students' awareness of clinical genetics and its ethical implications. The medical school curriculum will need creative new approaches to keeping up with the rapid pace of evolution of clinical genetics.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.72-78
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• 2018

Purpose: Physicians' attitudes may have a strong influence on women's decision regarding prenatal screening options. The aim of this study is to assess the physicians' attitudes toward prenatal screening for fetal aneuploidy including non-invasive prenatal testing (NIPT) in South Korea. Materials and Methods: Questionnaires were distributed and collected at several obstetrics-gynecological conferences and meetings. The questionnaire included 31 multiple choice and 5 fill-in-the-blank questions. Seven questions requested physicians' demographic information, 17 questions requested information about the NIPT with cell-free fetal DNA, and 12 questions requested information about general prenatal screening practices. Results: Of the 203 obstetricians that completed the survey. In contrast with professional guidelines recommending the universal offering of aneuploidy screening, only 53.7% answered that prenatal aneuploidy testing (screening and/or invasive diagnostic testing) should be offered to all pregnant women. Physicians tended to have positive attitudes toward the clinical application of NIPT as both primary and secondary screening methods for patients at high-risk for fetal trisomy. However, for patients at average-risk for fetal trisomy, physicians tended to have positive attitudes only as a secondary screening method. Physicians with more knowledge about NIPT were found to tend to inform their patients that the detection rate of NIPT is higher. Conclusion: This is the first study to investigate expert opinion on prenatal screening in South Korea. Education of physicians is essential to ensure responsible patient counseling, informed consent, and appropriate management after NIPT.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.sup3
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• pp.17-22
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• 2016

Colorectal cancer is a major cause of mortality worldwide. Fecal occult blood testing has proven a very effective screening tool for early detection and mortality reduction. The aim of this study was to determine predictors factors related to fecal occult blood testing using the Health Belief Model method among residents of Bushehr, Iran. A cross sectional study was performed on a sample of 600 men and women more than 50 years of age. The sample was selected by a convenience method from patients referred to public and private laboratories throughout the city. Each subject filled out a questionnaire which was designed and developed based on Health Belief Model constructs. Statistical analysis was conducted using ANOVA, T-test, chi-square test, and logistic regression. Fecal occult blood tests were performed on 179 (29.8%) out of 600 subjects, of which 95 patients (58.1%) did a periodic examination test and 84 patients (46.9%) had a doctor's advice for testing. According to the logistic regression model, the perceived barriers (P=0.0, Exp(B)= 0.3), perceived benefits (P<0.01, Exp(B)= 1.9) and self-efficacy (P<0.01, Exp(B)= 1.6) were predictive factors related to occult blood testing among subjects. The results showed that reducing people's perception of barriers to testing, increasing perceived benefits of screening, and reinforcing self efficacy can have major effect in increasing the rate of fecal occult blood screening for colorectal cancer prevention.

• Physical Therapy Korea
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• v.22 no.3
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• pp.41-49
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• 2015

This study aimed to evaluate the surface area and velocity of center of pressure (COP) during one leg standing by stimulating the sensory system in normal adults. Thirty subjects were enrolled in this study. Subjects were asked to stand on one leg during testing conditions. Testing conditions included 6 different sensory stimulations as follows: eyes opened, eyes closed, eyes opened with vibrator, eyes opened with head-mounted display (HMD), eyes opened with vibrator and HMD, and eyes closed with vibrator. During each testing condition, the surface area and velocity of center of pressure were measured. There were significant differences in the mean surface area and the mean velocity of COP between the "eyes opened" condition and the other five testing conditions (p<.05). However, in the comparison between the "eyes closed" and "eyes opened with HMD" conditions, there were no significant differences in the tested parameters. This study shows that closing eyes or keeping eyes opened while using HMD to experience virtual reality has the same effect on one leg standing balance. This finding should be considered in the evaluation or intervention of balance, especially one leg standing balance and balance while standing with a small base of support.

• Korean Journal of Clinical Laboratory Science
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• v.54 no.3
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• pp.167-172
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• 2022

In clinical practice, the diagnosis of tuberculosis (TB) continues to be a challenge. The goal of this study was to evaluate the reliability and impact of adenosine deaminase (ADA) enzyme testing as a biochemical marker in the continued management of suspected tuberculosis in a limited resource setting hospital. The retrospective data were collected from 2018 to 2021 and comprised the results of all ADA test assays done in the laboratory. All types of body fluids received for ADA testing were analyzed. Over the course of two years, 1461 samples for ADA assay testing were received. The average age of the study population was 56.69±11.7 years, with males accounting for the majority of the subjects (55.72%). Pleural fluid (N=817, 55.92%) was the most common type of sample received for the ADA assay. 114 (13.95%) of the 817 pleural fluid samples were found to be positive. A survey was conducted to obtain physician's response regarding reliability on ADA testing. 100% of them reported the supportive role of ADA levels in the workup of patients with suspected tuberculosis. In a limited resource setting, the ADA test, in conjunction with clinical and other laboratory findings, can help physicians to initiate early treatment in hospitals for the benefit of patients.