• Title/Summary/Keyword: human cases

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Metagenomic analysis of viral genes integrated in whole genome sequencing data of Thai patients with Brugada syndrome

  • Suwalak Chitcharoen;Chureerat Phokaew;John Mauleekoonphairoj;Apichai Khongphatthanayothin;Boosamas Sutjaporn;Pharawee Wandee;Yong Poovorawan;Koonlawee Nademanee;Sunchai Payungporn
    • Genomics & Informatics
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    • v.20 no.4
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    • pp.44.1-44.13
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    • 2022
  • Brugada syndrome (BS) is an autosomal dominant inheritance cardiac arrhythmia disorder associated with sudden death in young adults. Thailand has the highest prevalence of BS worldwide, and over 60% of patients with BS still have unclear disease etiology. Here, we performed a new viral metagenome analysis pipeline called VIRIN and validated it with whole genome sequencing (WGS) data of HeLa cell lines and hepatocellular carcinoma. Then the VIRIN pipeline was applied to identify viral integration positions from unmapped WGS data of Thai males, including 100 BS patients (case) and 100 controls. Even though the sample preparation had no viral enrichment step, we can identify several virus genes from our analysis pipeline. The predominance of human endogenous retrovirus K (HERV-K) viruses was found in both cases and controls by blastn and blastx analysis. This study is the first report on the full-length HERV-K assembled genomes in the Thai population. Furthermore, the HERV-K integration breakpoint positions were validated and compared between the case and control datasets. Interestingly, Brugada cases contained HERV-K integration breakpoints at promoters five times more often than controls. Overall, the highlight of this study is the BS-specific HERV-K breakpoint positions that were found at the gene coding region "NBPF11" (n = 9), "NBPF12" (n = 8) and long non-coding RNA (lncRNA) "PCAT14" (n = 4) region. The genes and the lncRNA have been reported to be associated with congenital heart and arterial diseases. These findings provide another aspect of the BS etiology associated with viral genome integrations within the human genome.

Expression of HMGB1 and its Clinical Significance in T-cell Lymphoma

  • Mao, Xing-Jiang;Wang, Geng-Fu;Chen, Zhi-Jun;Wang, Li-Na;Zhang, Jun-Biao;Wang, Hui-Ling
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.11
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    • pp.5569-5571
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    • 2012
  • Objectives: To evaluate the clinical significance of HMGB1 expression in T-cell lymphoma. Methods: Immunohistochemical staining for HMGB1 and survivin was performed with specimens from 120 cases of T-cell lymphoma and 40 cases of reactive lymphoid hyperplasia with antibodies against human HMGB1 and survivin. Results: The expression of HMGB1 and survivin was significantly higher in tissues of T-cell lymphoma than in reactive lymphoid hyperplasia. Positive expression of HMGB1 and survivin was observed in 63.7% (65/102) and 61.8% (63/102) of T-cell lymphoma cases, respectively. While was associated with gender, age, and tumor location, significant correlations with malignancy and clinical stage were observed. Spearman rank correlation analysis revealed that the expression of HMGB1 and survivin was positively correlated in T-cell lymphomas (P<0.01). Conclusions: Expression of HMGB1 and survivin in T-cell lymphomas is significantly associated with malignancy and clinical stage, but not with gender, age and tumor location. Elevated expression of HMGB1 may be an important biomarker for the development and progression of T-cell lymphoma.

The case study of the current senior shift in fashion and beauty brand (패션뷰티 산업분야의 시니어 시프트 현황분석)

  • Baek, Kyoungjin;Seo, Inkyung
    • The Research Journal of the Costume Culture
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    • v.26 no.1
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    • pp.56-72
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    • 2018
  • In recent years, there has been increasing interest in the senior people in our aging society. This paper will give an account of the current cases of senior shift. The first section of this paper will examine a conceptual approach based on a literature review and analyze case studies of senior shifts by national fashion and beauty brands. It will be helpful for the 'New Senior' consumer group, which in emerging in an aging society. The research methods applied were a literature review and a case study, and a database search was conducted to determine the current situation of global brands. The results of the literature review showed that seniors can be classified into four types based on their physical aging condition and emotional tendency: Prime Senior, Smart Senior, Rational Senior, and Slump Senior. The first thing that needs to be said is that the Prime Senior type is found commonly in as a way to appoint a senior model in order to switch brand image. Cases of the Smart Senior type appeared only in the beauty field, which attempted multilateral approaches such as launching products exclusively for seniors and offering make-up services after improving the usability and functionality in response to senior consumers'needs. However, as no cases of senior shift were found for the Rational Senior and Slump Senior types in either the fashion or beauty field, future studies should explore the market approaches used in those categories.

Bromide Concentration in Human Biological Samples Intoxicated by Methylbromide (Methylbromide에 중독된 인체시료 중 브롬이온의 함량)

  • You, Jae-Hoon;Lee, Sang-Ki;Jin, Kwang-Ho;In, Sang-Wban;Yoo, Young-Chan;Park, Sung-Woo
    • Analytical Science and Technology
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    • v.11 no.2
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    • pp.88-91
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    • 1998
  • Bromide($Br^-$) was separated and quantified with $2.8mM-NaHCO_3/2.2mM-Na_2CO_3$ by Ion Chromatography. Bromide was eluted at 8.9 min. and the detectetion limit was 2.5 ng. We compared with bromide concentration in normal or methylbromide intoxicated bloods and tissues. Bromide concentrations were 2.0~5.8 ppm in normal bloods and 1.0~5.3 ppm in normal tissues. In fatal cases of methylbromide intoxication, blood bromide concentrations (4 cases) of 74.2~139 ppm and tissue bromide concentration (1 case) of 76 (heart)~201 (lung) ppm were detected. In fatal cases, blood bromide concentrations. were 12~22 times higher than those of normal bloods.

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Effect of High Dose Insulin/Euglycemia Therapy for Acute Calcium Channel Blocker Intoxication: A Systematic Review (급성 칼슘통로차단제 중독에서 고용량 인슐린/정상혈당치료의 효과: 체계적 고찰)

  • Yang, Jinmo;Ko, Dong Ryul;Kong, Taeyoung;Joo, Young Seon;You, Je Sung;Chung, Sung Phil
    • Journal of The Korean Society of Clinical Toxicology
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    • v.13 no.2
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    • pp.103-110
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    • 2015
  • Purpose: The purpose of this study is to evaluate the effectiveness and the adverse events of high dose insulin/euglycemia therapy in acute calcium channel blocker (CCB) poisoning. Methods: We developed a systematic search strategy and applied it to 4 electronic reference databases. We searched medical journals as well as the bibliographies of relevant articles. All forms of literature relevant to human use of high dose insulin for acute CCB poisoning were included. The literature search was conducted by two investigators in August, 2015 with publication language restricted to English and Korean. Case reports were divided between CCB overdose alone and multi-drug overdose including CCB. The effect and adverse event of high dose insulin and clinical outcome of each case were analyzed. Results: Among 55 searched studies, 20 studies were included. A prospective study, a retrospective study, a systematic review study, and 17 case reports were identified. Case reports consisted of 11 CCB alone and 12 multidrug overdose cases including CCB. Although most cases described significant clinical improvements, one of them showed no beneficial effect. Several adverse events including hypoglycemia and hypokalemia were reported. No significant sequalae from adverse events was reported. Conclusion: Although there were many case reports demonstrating successful use of high dose insulin for CCB poisoning, the effect cannot be estimated due to a possibility of publication bias. Therefore, high dose insulin/euglycemia therapy might be considered adjunctive therapy in cases of CCB intoxication refractory for standard therapy.

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Genetic Variation in the ABCB1 Gene May Lead to mRNA Level Chabge: Application to Gastric Cancer Cases

  • Mansoori, Maryam;Golalipour, Masoud;Alizadeh, Shahriar;Jahangirerad, Ataollah;Khandozi, Seyed Reza;Fakharai, Habibollah;Shahbazi, Majid
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.18
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    • pp.8467-8471
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    • 2016
  • Background: One of the major mechanisms for drug resistance is associated with altered anticancer drug transport, mediated by the human-adenosine triphosphate binding cassette (ABC) transporter superfamily proteins. The overexpression of adenosine triphosphate binding cassette, sub-family B, member 1 (ABCB1) by multidrug-resistant cancer cells is a serious impediment to chemotherapy. In our study we have studied the possibility that structural single-nucleotide polymorphisms (SNP) are the mechanism of ABCB1 overexpression. Materials and Methods: A total of 101 gastric cancer multidrug resistant cases and 100 controls were genotyped with sequence-specific primed PCR (SSP-PCR). Gene expression was evaluated for 70 multidrug resistant cases and 54 controls by real time PCR. The correlation between the two groups was based on secondary structures of RNA predicted by bioinformatics tool. Results: The results of genotyping showed that among 3 studied SNPs, rs28381943 and rs2032586 had significant differences between patient and control groups but there were no differences in the two groups for C3435T. The results of real time PCR showed over-expression of ABCB1 when we compared our data with each of the genotypes in average mode. Prediction of secondary structures in the existence of 2 related SNPs (rs28381943 and rs2032586) showed that the amount of ${\Delta}G$ for original mRNA is higher than the amount of ${\Delta}G$ for the two mentioned SNPs. Conclusions: We have observed that 2 of our studied SNPs (rs283821943 and rs2032586) may elevate the expression of ABCB1 gene, through increase in mRNA stability, while this was not the case for C3435T.

Promoter Methylation and Relative mRNA Expression of the p16 Gene in Cervical Cancer in North Indians

  • Gupta, Amita;Ahmad, Mohammad Kaleem;Mahndi, Abbas Ali;Singh, Renu;Pradeep, Yashodhara
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.8
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    • pp.4149-4154
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    • 2016
  • Background: Cervical carcinoma is one of the main causes of mortality in women worldwide as well as in India. It occurs as a result of various molecular events that develop from the combined influences of an individual's genetic predisposition and external agents such as smoking and menstrual hygiene, for example. However, infection with human papillomavirus (HPV) is the established major risk factor. The aim of the current study was to investigate p16 CpG island methylation and establish any correlation with mRNA expression in north Indian population. Materials and Methods: We analyzed 196 woman volunteer out of which 98 were cases and 98 healthy controls. For the analysis of methylation pattern, DNA extracted from blood samples was modified with a bisulfate kit and used as template for methylation specific PCR (MSP). Quantitative real-time PCR (QRT-PCR) was performed to check mRNA expression. Results: Correlation between methylation status of p16 gene and poor menstrual hygiene was significant (p=0.006), high parity cases showed methylation of p16 gene (p=0.031) with increased risk up to 1.86 times for cervical cancer and smoking was a strong risk factor associated with cervical cancer. We analyzed methylation pattern and found 60.3% methylation in cases with low mRNA expression level (0.014) as compare to controls (1.24). It was also observed that promoter methylation of p16 gene was significantly greater in FIGO stage III. Conclusions: We conclude that p16 methylation plays an important role in cervical cancer in the north Indian population and its methylation decreases mRNA expression. It can be used as an important and consistent blood biomarker in cervical cancer patients.

Expression of Human Epidermal Growth Factor Receptor (Her 2/neu) and Proliferative Marker Ki-67: Association with Clinicopathological Parameters in Gallbladder Carcinoma

  • Pujani, Mukta;Makker, Isha;Makker, Annu;Goel, Madhu Mati;Jetley, Sujata
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.8
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    • pp.3903-3909
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    • 2016
  • Purpose: To evaluate the expression of Her2/neu and Ki-67 in benign and malignant gallbladder lesions, and to establish correlations with clinico-pathologic parameters. Materials and Methods: A retrospective analysis was conducted on formalin fixed paraffin embedded (FFPE) benign (n=25) and malignant gallbladder (n=25) tissue samples. Hematoxylin and eosin stained slides of each case were reviewed for: type of malignancy (whether adenocarcinoma, squamous cell carcinoma, or any other type), grade (well, moderate, and poor), depth of invasion, pre-neoplastic changes in adjacent mucosal epithelium like metaplasia and dysplasia. Immunohistochemistry for Her 2 neu and Ki-67 was performed and data analysis was conducted using SPSS 17 software. Chi-square test was used to compare categorical/dichotomous variables. P value of ${\leq}0.05$ was considered significant. Results: The difference of Her 2 neu expression and Ki67 index between benign and malignant groups was found to be statistically significant. Her2/neu positivity did not have any significant correlation with various clinicopathological parameters other than liver involvement. 5 cases of gallbladder cancer showed both Her2/neu and Ki67 positivity. Ten cases were Ki67 positive but Her2/neu negative while one case was Her2/neu positive but Ki67 negative. Conclusions: The present study demonstrated overexpression of Her2/neu and Ki67 in gallbladder cancer. A trend of decreasing Her2/neu expression with increasing grade of tumor was observed. Furthermore, greater Ki67 positivity was found in cases with lymph node metastasis and distant metastasis. Future studies with a larger number of patients will be required to precisely define the correlation of Her2/neu expression and Ki67 positivity with clinicopathological parameters. The results however are encouraging and suggest evaluation of Her2/neu as a candidate for targeted therapy.

A Retrospective Analysis on the Cystic Echinococcosis Cases Occured in Northeastern Punjab Province, Pakistan

  • Khan, Aisha;Zahoor, Sarmad;Ahmed, Haroon;Malik, Uzma;Butt, Rabia Amin;Muzam, Muhammad Sultanul;Kilinc, Seyma Gunyakti;Noor, Noorulain;Zahoor, Saroosh;Afzal, Muhammad Sohail;Mansur, Hamza;Irum, Shumaila;Simsek, Sami
    • Parasites, Hosts and Diseases
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    • v.56 no.4
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    • pp.385-390
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    • 2018
  • A retrospective study was performed to report the case occurrence of cystic echinococcosis (CE) in three hospitals of north-eastern region in Punjab Province, Pakistan. We reviewed retrospectively the clinical records of patients in 4 hospitals which were diagnosed with CE during 2012-2017. A total of 198 cases, 82 (41.4%) male and 116 (58.6%) females were detected as CE. The most Highest incidence was revealed in${\ldots}$. 21-30 years-old group (24.2%) followed by 41-50 (22.7%), 31-40 (16.2%), 11-20 (13.6%), 51-60 (8.1%), below 10 (5.5%), over 71 (5.1%) and 61-70 year-old group (4.5%). CE was detected in various organs of infected individuals. However, most of CE cases were detected in the liver (47.4%) and lung (18.6%). The present study indicated that CE is more or less prevalent in surveyed areas and one of the most important public health problems in Punjab Province, Pakistan.

Does Cervical Screening in Young Women Aged 20-25 Years Lead to Unnecessary and Harmful Interventions?

  • Al-Kalbani, Moza;Price, John;Thompson, Gwen;Ahmad, Sarfraz;Nagar, Hans
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.15
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    • pp.6557-6559
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    • 2015
  • Background: Cervical human papillomavirus (HPV) infection among young women (20-25 years of age) is common and normally transient. There are growing concerns that referral to a colposcopy clinic may lead to unnecessary treatment with an increased risk of obstetric complications. Therefore, the purpose of this study was to determine the level of intervention for cervical abnormalities in this age group of the Northern Ireland population. Materials and Methods: A review of all serial new patients under 25 years of age, who were referred to colposcopy clinics in Northern Ireland between January 1, 2009 to June 30, 2009 formed the basis of this study. Results: During the study period, a total of 4,767 women under 25 years of age were screened. Two-hundred-and-thirty-four (4.9%) cases were referred to the colposcopy clinics. The cervical cytology results were: high-grade abnormality in 35%, and low-grade abnormality in 31% of these cases. One-hundred-and-seventy-eight (76%) of the referred women received at least one treatment. One-hundred-and-twenty-one of 234 (51.5%) women underwent an excisional treatment with histology showing the presence of high-grade abnormalities (CIN2-3) in 52%, CIN1 in 28%, and Koilocytosis or normal tissue in 20% of this sub-group of cases. Conclusions: Screening women under the age of 25 years cause unnecessary referral for colposcopy. This may also result in considerable anxiety and psychosexual morbidity. It leads to an over-treatment with a potential of negative impact on the future pregnancy outcomes (including pre-term delivery, low birth weight, and pre-term premature rupture of membranes).