• Title/Summary/Keyword: Molecular Epidemiology

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Surgical Perspective of T1799A BRAF Mutation Diagnostic Value in Papillary Thyroid Carcinoma

  • Brahma, Bayu;Yulian, Erwin Danil;Ramli, Muchlis;Setianingsih, Iswari;Gautama, Walta;Brahma, Putri;Sastroasmoro, Sudigdo;Harimurti, Kuntjoro
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.1
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    • pp.31-37
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    • 2013
  • Background: Throughout Indonesia, thyroid cancer is one of the ten commonest malignancies, with papillary thyroid carcinoma (PTC) in our hospital accounting for about 60% of all thyroid nodules. Although fine needle aspiration biopsy (FNAB) is the most reliable diagnostic tool, some nodules are diagnosed as indeterminate and second surgery is common for PTC. The aim of this study was to establish the diagnostic value and feasibility of testing the BRAF T1799A mutation on FNA specimens for improving PTC diagnosis. Materials and Methods: This prospective study enrolled 95 patients with thyroid nodules and future surgery planned. Results of mutational status were compared with surgical pathology diagnosis. Results: Of the 70 cases included in the final analysis, 62.8% were PTC and the prevalence of BRAF mutation was 38.6%. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for BRAF mutation analysis were 36%, 100%, 100% and 48%, respectively. With other data findings, nodules with "onset less than 5 year" and "hard consistency" were proven as diagnostic determinants for BRAF mutation with a probability of 62.5%. This mutation was also a significant risk factor for extra-capsular extension. Conclusions: Molecular analysis of the BRAF T1799A mutation in FNAB specimens has high specificity and positive predictive value for PTC. It could be used in the selective patients with clinical characteristics to facilitate PTC diagnosis and for guidance regarding extent of thyroidectomy.

Prospective Targets for Colon Cancer Prevention: from Basic Research, Epidemiology and Clinical Trial

  • Shingo Miyamoto;Masaru Terasaki;Rikako Ishigamori;Gen Fujii;Michihiro Mutoh
    • Journal of Digestive Cancer Research
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    • v.4 no.2
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    • pp.64-76
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    • 2016
  • The step-wise process of colorectal carcinogenesis from aberrant crypt foci, adenoma to adenocarcinoma, is relatively suitable for chemopreventive intervention. Accumulated evidences have revealed that maintaining an undifferentiated state (stemness), inflammation, and oxidative stress play important roles in this colon carcinogenesis process. However, appropriate molecular targets that are applicable to chemopreventive intervention regarding those three factors are still unclear. In this review, we summarized appropriate molecular targets by identification and validation of the prospective targets from a comprehensive overview of data that showed colon cancer preventive effects in clinical trials, epidemiological studies and basic research. We first selected a study that used aspirin, statins and metformin from FDA approved drugs, and epigallocatechin-gallate and curcumin from natural compounds as potential chemopreventive agents against colon cancer because these agents are considered to be promising chemopreventive agents. Experimental and observational data revealed that there are common target molecules in these potential chemopreventive agents: T-cell factor/lymphoid enhancer factor (TCF/LEF), nuclear factor-&B (NF-κB) and nuclear factor-erythroid 2-related factor 2(NRF2). Moreover, these targets, TCF/LEF, NF-κB and NRF2, have been also indicated to suppress maintenance of the undifferentiated state, inflammation and oxidative stress, respectively. In the near future, novel promising candidate agents for colon cancer chemoprevention could be identified by integral evaluation of their effects on these three transcriptional activities.

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Optimal Combination of VNTR Typing for Discrimination of Isolated Mycobacterium tuberculosis in Korea

  • Lee, Jihye;Kang, Heeyoon;Kim, Sarang;Yoo, Heekyung;Kim, Hee Jin;Park, Young Kil
    • Tuberculosis and Respiratory Diseases
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    • v.76 no.2
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    • pp.59-65
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    • 2014
  • Background: Variable-number tandem repeat (VNTR) typing is a promising method to discriminate the Mycobacterium tuberculosis isolates in molecular epidemiology. The purpose of this study is to determine the optimal VNTR combinations for discriminating isolated M. tuberculosis strains in Korea. Methods: A total of 317 clinical isolates collected throughout Korea were genotyped by using the IS6110 restriction fragment length polymorphism (RFLP), and then analysed for the number of VNTR copies from 32 VNTR loci. Results: The results of discriminatory power according to diverse combinations were as follows: 25 clusters in 83 strains were yielded from the internationally standardized 15 VNTR loci (Hunter-Gaston discriminatory index [HGDI], 0.9958), 25 clusters in 65 strains by using IS6110 RFLP (HGDI, 0.9977), 14 clusters in 32 strains in 12 hyper-variable VNTR loci (HGDI, 0.9995), 6 clusters in 13 strains in 32 VNTR loci (HDGI, 0.9998), and 7 clusters in 14 strains of both the 12 hyper-variable VNTR and IS6110 RFLP (HDGI, 0.9999). Conclusion: The combination of 12 hyper-variable VNTR typing can be an effective tool for genotyping Korean M. tuberculosis isolates where the Beijing strains are predominant.

Gene Co-expression Network Analysis Associated with Acupuncture Treatment of Rheumatoid Arthritis: An Animal Model

  • Ravn, Dea Louise;Mohammadnejad, Afsaneh;Sabaredzovic, Kemal;Li, Weilong;Lund, Jesper;Li, Shuxia;Svendsen, Anders Jorgen;Schwammle, Veit;Tan, Qihua
    • Journal of Acupuncture Research
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    • v.37 no.2
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    • pp.128-135
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    • 2020
  • Background: Classical acupuncture is being used in the treatment of rheumatoid arthritis (RA). To explore the biological response to acupuncture, a network-based analysis was performed on gene expression data collected from an animal model of RA treated with acupuncture. Methods: Gene expression data were obtained from published microarray studies on blood samples from rats with collagen induced arthritis (CIA) and non-CIA rats, both treated with manual acupuncture. The weighted gene co-expression network analysis was performed to identify gene clusters expressed in association with acupuncture treatment time and RA status. Gene ontology and pathway analyses were applied for functional annotation and network visualization. Results: A cluster of 347 genes were identified that differentially downregulated expression in association with acupuncture treatment over time; specifically in rats with CIA with module-RA correlation at 1 hour after acupuncture (-0.27; p < 0.001) and at 34 days after acupuncture (-0.33; p < 0.001). Functional annotation showed highly significant enrichment of porphyrin-containing compound biosynthetic processes (p < 0.001). The network-based analysis also identified a module of 140 genes differentially expressed between CIA and non-CIA in rats (p < 0.001). This cluster of genes was enriched for antigen processing and presentation of exogenous peptide antigen (p < 0.001). Other functional gene clusters previously reported in earlier studies were also observed. Conclusion: The identified gene expression networks and their hub-genes could help with the understanding of mechanisms involved in the pathogenesis of RA, as well understanding the effects of acupuncture treatment of RA.

Cigarette Smoking and Pancreatic Cancer Risk: A Revisit with an Assessment of the Nicotine Dependence Phenotype

  • Nakao, Makoto;Hosono, Satoyo;Ito, Hidemi;Oze, Isao;Watanabe, Miki;Mizuno, Nobumasa;Yatabe, Yasushi;Yamao, Kenji;Niimi, Akio;Tajima, Kazuo;Tanaka, Hideo;Matsuo, Keitaro
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.7
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    • pp.4409-4413
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    • 2013
  • Background: Cigarette smoking is a well-established risk factor of pancreatic cancer (PC). Although an association between nicotine dependence phenotype, namely time to first cigarette (TTFC) after waking, and the risk of several smoking-related cancers has been reported, an association between TTFC and PC risk has not been reported. We assessed the impact of smoking behavior, particularly TTFC, on PC risk in a Japanese population. Materials and Methods: We conducted a case-control study using 341 PC and 1,705 non-cancer patients who visited Aichi Cancer Center in Nagoya, Japan. Exposure to risk factors, including smoking behavior, was assessed from the results of a self-administered questionnaire. The impact of smoking on PC risk was assessed with multivariate logistic regression analysis adjusted for potential confounders to estimate odds ratios (ORs) and 95% confidence intervals (CIs). Results: Cigarettes per day (CPD) and/or smoking duration were significantly associated with PC risk, consistent with previous studies. For TTFC and PC risk, we found only a suggestive association: compared with a TTFC of more than 60 minutes, ORs were 1.15 (95%CI, 0.65-2.04) for a TTFC of 30-60 minutes and 1.35 (95%CI, 0.85-2.15) for that of 0-30 minutes (p trend=0.139). After adjustment for CPD or smoking duration, no association was observed between TTFC and PC. Conclusions: In this study, we found no statistically significant association between TTFC and PC risk. Further studies concerning TTFC and PC risk are warranted.

Clinical features and molecular mechanism of muscle wasting in end stage renal disease

  • Sang Hyeon Ju;Hyon-Seung Yi
    • BMB Reports
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    • v.56 no.8
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    • pp.426-438
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    • 2023
  • Muscle wasting in end-stage renal disease (ESRD) is an escalating issue due to the increasing global prevalence of ESRD and its significant clinical impact, including a close association with elevated mortality risk. The phenomenon of muscle wasting in ESRD, which exceeds the rate of muscle loss observed in the normal aging process, arises from multifactorial processes. This review paper aims to provide a comprehensive understanding of muscle wasting in ESRD, covering its epidemiology, underlying molecular mechanisms, and current and emerging therapeutic interventions. It delves into the assessment techniques for muscle mass and function, before exploring the intricate metabolic and molecular pathways that lead to muscle atrophy in ESRD patients. We further discuss various strategies to mitigate muscle wasting, including nutritional, pharmacological, exercise, and physical modalities intervention. This review seeks to provide a solid foundation for future research in this area, fostering a deeper understanding of muscle wasting in ESRD, and paving the way for the development of novel strategies to improve patient outcomes.

Novel pan-lineage VP1 specific degenerate primers for precise genetic characterization of serotype O foot and mouth disease virus circulating in India

  • Sagar Ashok Khulape;Jitendra Kumar Biswal;Chandrakanta Jana;Saravanan Subramaniam;Rabindra Prasad Singh
    • Journal of Veterinary Science
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    • v.24 no.3
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    • pp.40.1-40.6
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    • 2023
  • Analysis of the VP1 gene sequence of the foot and mouth disease virus (FMDV) is critical to understanding viral evolution and disease epidemiology. A standard set of primers have been used for the detection and sequence analysis of the VP1 gene of FMDV directly from suspected clinical samples with limited success. The study validated VP1-specific degenerate primer-based reverse transcription polymerase chain reaction (RT-PCR) for the qualitative detection and sequencing of serotype O FMDV lineages circulating in India. The novel degenerate primer-based RT-PCR amplifying the VP1 gene can circumvent the genetic heterogeneity observed in viruses after cell culture adaptation and facilitate precise viral gene sequence analysis from clinical samples.

Epidemic Trends of Upper Gastrointestinal Tract Abnormalities: Hospital-based study on Endoscopic Data Evaluation

  • Mohiuddin, Mohammed Khaliq;Chowdavaram, Suman;Bogadi, Varun;Prabhakar, Boddu;Rao, Kondadasula Pandu Ranga;Devi, Suneetha;Mohan, Vasavi
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.14
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    • pp.5741-5747
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    • 2015
  • Purpose: To understand the epidemiology of different upper gastrointestinal (UGI) tract related abnormalities through endoscopic data analysis. Materials and Methods: A retrospective study of three years from January 2009 to December 2011 was conducted with data from endoscopic surveillance of upper GI tract problems, collected from the Gastroenterology Unit, Osmania General Hospital, Hyderabad. MS excel and Medcalc software (comparison of proportions) were used for data analysis. Results: A total of 10,029 (6,468 in males and 3,561 in females) endoscopies were performed during this three-year period. The male to female ratio was 1.8:1. Overall, ~30% of endoscopies evaluated showed patients with acid peptic disorders, 13.6% with vascular-related abnormalities, 10.6% showed structural abnormalities, followed by 6.3% with malignancies. Burden of malignancies was mostly observed in the older age group (60-69 years). Esophageal cancer cases decreased (p=0.0001) whereas stomach cancers increased over this period (p=0.0345). We also observed an increased incidence of acid peptic disease (APD) (p=0.0036) and gastroesophageal reflux disease (GERD) (p=0.0002) cases during this period. Conclusions: Endoscopic diagnosis is useful for early detection of UGI anomalies and helpful for physicians to manage and treat varied kinds of UGI disorders. Analysis of data revealed changing trends in the incidence of various pathologies of the UGI tract. Functional dyspepsia and GERD definitely reduce the quality of life of the individual. The role of our diverse dietary habits and lifestyle associated with these problems have not yet been established, though there have been reports on the effect of coffee, spicy food, wheat-based diet, screening of UGI pathologies along with collection of complete personal and medical history details, can h elp in correlating the patients' condition with various aspects of lifestyle and diet.

Diet and Cancer Risk in the Korean Population: A Meta-analysis

  • Woo, Hae Dong;Park, Sohee;Oh, Kyungwon;Kim, Hyun Ja;Shin, Hae Rim;Moon, Hyun Kyung;Kim, Jeongseon
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.19
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    • pp.8509-8519
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    • 2014
  • Many studies have found links between diet and cancer. The summary estimates of the association between dietary factors and cancer risk were investigated using previously reported studies of the Korean population. Gastric cancer risk was inversely associated with the high intake of soy foods [OR (95% CI): 0.32 (0.25-0.40) for soybean, 0.56 (0.45-0.71) for soybean curd, and 0.67 (0.46-0.98) for soymilk], allium vegetables [OR (95% CI): 0.37 (0.26-0.53) for green onion, 0.54 (0.40-0.73) for garlic, and 0.54 (0.35-0.85) for onion], fruits [OR (95% CI): 0.61 (0.42-0.88)], and mushrooms [OR (95% CI): 0.43 (0.21-0.88)]. Salt and Kimchi were associated with an increased gastric cancer risk [OR (95% CI): 1.92 (1.52-2.43) and 2.21 (1.29-3.77), respectively]. Colorectal cancer risk was positively associated with meat intake [OR (95% CI): 1.25 (1.15-1.36)]. Total soy products, soybean curd, and soymilk showed an inverse association with breast cancer risk [OR (95% CI): 0.61 (0.38-0.99), 0.47 (0.34-0.66), and 0.75 (0.57-0.98), respectively]. Green/yellow and light colored vegetables were associated with a reduced risk of breast cancer [OR (95% CI): 0.34 (0.23-0.49) and 0.44 (0.21-0.90), respectively]. Mushroom intake was inversely associated in pre-menopausal women only [OR (95% CI): 0.47 (0.26-0.86)]. In conclusion, soy foods, fruits and vegetables might reduce cancer risk in the Korean population. High salt food might be risk factor for gastric cancer, and intake of high amount of meat might cause colorectal cancer.

Diabetes Mellitus and Site-specific Colorectal Cancer Risk in Korea: A Case-control Study

  • Woo, Hyeongtaek;Lee, Jeeyoo;Lee, Jeonghee;Park, Ji Won;Park, Sungchan;Kim, Jeongseon;Oh, Jae Hwan;Shin, Aesun
    • Journal of Preventive Medicine and Public Health
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    • v.49 no.1
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    • pp.45-52
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    • 2016
  • Objectives: Previous large-scale cohort studies conducted in Korea have found a positive association between diabetes mellitus (DM) and colorectal cancer (CRC) in men only, in contrast to studies of other populations that have found significant associations in both men and women. Methods: A total of 1070 CRC cases and 2775 controls were recruited from the National Cancer Center, Korea between August 2010 and June 2013. Self-reported DM history and the duration of DM were compared between cases and controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by binary and polytomous logistic regression models. Results: DM was associated with an elevated risk of CRC in both men (OR, 1.47; 95% CI, 1.13 to 1.90) and women (OR, 1.92; 95% CI, 1.24 to 2.98). This association remained when we controlled for age, body mass index, alcohol consumption, and physical activity level. In sub-site analyses, DM was associated with distal colon cancer risk in both men (multivariate OR, 2.04; 95% CI, 1.39 to 3.00) and women (multivariate ORs, 1.99; 95% CI, 1.05 to 3.79), while DM was only associated with rectal cancer risk in women (multivariate OR, 2.05; 95% CI, 1.10 to 3.82). No significant association was found between DM and proximal colon cancer risk in either men (multivariate OR, 1.45; 95% CI, 0.88 to 2.41) or women (multivariate OR, 1.79; 95% CI, 0.78 to 4.08). Conclusions: Overall, DM was associated with an increased risk of CRC in Koreans. However, potential over-estimation of the ORs should be considered due to potential biases from the case-control design.