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Stool DNA methylation assays in colorectal cancer screening

World Journal of Gastroenterology 2015年第35期21卷 10057-10061页

作者： Tanya Kadiyska Alexander Nossikoff genetic Medico-diagnostic laboratory Genica Department of Medical Chemistry and Bio-chemistry Sofia Medical University University Hospital Lozenets

Colorectal cancer(CRC) is fourth most common cancer in men and third in women worldwide. Developing a diagnostic panel of sensitive and specific biomarkers for the early detection of CRC is recognised as to be crucial for early initial diagnosis, which in turn leads to better long term survival. Most of the research on novel potential CRC biomarkers in the last 2 decades has been focussed on stool DNA analysis. In this paper, we describe the recent advances in non-invasive CRC screening and more specifically in molecular assays for aberrantly methylated BMP3 and NDRG4 promoter regions. In several research papers these markers showed superior rates for sensitivity and specificity in comparison to previously described assays. These tests detected the majority of adenomas ≥ 1 cm in size and the detection rates progressively increased with larger adenomas. The methylation status of the BMP3 and NDRG4 promoters demonstrated effective detection of neoplasms at all sites throughout the colon and was not affected by common clinical variables. Recently, a multitarget stool DNA test consisting of molecular assays for aberrantly methylated BMP3 and NDRG4 promoter regions, mutant KRAS and immunochemical assay for human haemoglobin has been made commercially available and is currently reimbursed in the United States. Although this is the most sensitive noninvasive CRC screening test, there is the need for further research in several areas- establishment of the best timeframe for repeated DNA stool testing; validation of the results in populations outside of North America; usefulness for surveillance and prognosis of patients; cost-effectiveness of DNA stool testing in real-life populations.

关键词： Colorectal cancer Screening programs BMP3,NDRG4 Pr

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Cholera:an overview with reference to the Yemen epidemic

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Frontiers of Medicine 2019年第2期13卷 213-228页

作者： Ali A.Rabaan Molecular diagnostic laboratory Johns Hopkins Aramco HealthcareDhahran 31311Saudi Arabia

Cholera is a secretory diarrhoeal disease caused by infection with Vibrio cholerae, primarily the V. cholerae O1 El Tor biotype. There are approximately 2.9 million cases in 69 endemic countries annually, resulting in 95 000 deaths. Cholera is associated with poor infrastructure and lack of access to sanitation and clean drinking water. The current cholera epidemic in Yemen, linked to spread of V. cholerae O1 (Ogawa serotype), is associated with the ongoing war. This has devastated infrastructure and health services. The World Health Organization had estimated that 172 286 suspected cases arose between 27th April and 19th June 2017, including 1170 deaths. While there are three oral cholera vaccines prequalified by the World Health Organization, there are issues surrounding vaccination campaigns in conflict situations, exacerbated by external factors such as a global vaccine shortage. Major movements of people complicates surveillance and administration of double doses of vaccines. Cholera therapy mainly depends on rehydration, with use of antibiotics in more severe infections. Concerns have arisen about the rise of antibiotic resistance in cholera, due to mobile genetic elements. In this review, we give an overview of cholera epidemiology, virulence, antibiotic resistance, therapy and vaccines, in the light of the ongoing epidemic in Yemen.

关键词： cholera epidemic multi-drug resistant catechin luteolin ToxT CTXФ

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Molecular characterization of suppression of hepatitis B virus transcription by hepatitis C virus core protein

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Science China(Life Sciences) 1997年第6期40卷 648-656页

作者：王海林颜子颖侯云德金冬雁 State Key laboratory of Molecular Virology and genetic Engineering Institute of Virology Chinese Academy of Preventive Medicine Beijing 100052 China

To further elucidate the molecular mechanisms underlying the suppression of hepatitis B virus (HBV) expression by the hepatitis C virus (HCV) core protein, five molecular clones of HCV cDNA sequence con-taining the 5' noncoding (5'NC) and the core regions have been isolated from Chinese HBV- and HCV-coinfected pa-tients. Sequence comparison and phylogenetic analysis showed that the HCV sequence cloned from coinfected individu-als is indistinguishable from that identified in other patients. Cotransfection assay confirmed that the core protein ex-pressed from one of the cloned sequence is capable of suppressing the expression of hepatitis B surface and e antigens (HBsAg and HBeAg, respectively). Deletion mapping revealed that the C-terminal hydrophobic region of the HCV core is necessary for the suppression. Results from reporter assays demonstrated that HCV core protein interacts with the HBV C promoter and enhancer II elements and down-regulates the transcription of HBV as well as other cellular and heterologous viral genes in both hepatic and non-hepatic cell lines. Taken together, the findings suggest HCV core protein as a multifunctional negative regulator of transcription critically involved in the molecular interactions between HBV and HCV, and between HCV and the cell.

关键词： hepatitis C virus (HCV) hepatitis B virus (HBV) core protein gene regulation.

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Vibrio parahaemolyticus O10:K4:An Emergent Serotype with Pandemic Virulence Traits as Predominant Clone Detected by Whole-Genome Sequence Analysis--Beijing Municipality,China,2021

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China CDC weekly 2022年第22期4卷 471-477页

作者： Ying Huang Bing Lyu Xin Zhang Yi Tian Changying Lin Lingyu Shen Hanqiu Yan Daitao Zhang Lei Jia Mei Qu Quanyi Wang Beijing Center for Disease Prevention and Control Beijing Key Laboratory of Diagnostic and Traceability Technologies for Food PoisoningBeijingChina

Introduction:Vibrio parahaemolyticus(***)is a common foodborne pathogen which causes gastroenteritis in humans,especially the O3:K6 pandemic clone which is still a prominent serotype in Beijing,*** this study,we observed a novel serotype O10:K4 isolated from clinical diarrhea cases,which became the most prevalent clone in ***:73 clinical isolates were collected through sentinel hospitals’surveillance in *** agglutination testing and antimicrobial susceptibility testing were *** genome sequencing was applied to characterize 73 *** strains and complete phylogenetic ***:Seven serotypes were identified among 73 strains.O10:K4 was the most common serotype(83.6%),followed by O2:KUT,O4:KUT,and O1:*** sequence typing divided the 73 isolates into 10 sequence types(STs)with ST3 as the most prevalent,which covered all O10:K4 *** isolates were sensitive to common antimicrobial agents apart from *** the O10:K4 isolates were positive for the thermostable direct hemolysin gene,toxRS/new,and orf8,and negative for the TDH-related hemolysin *** whole genome sequencing-single nucleotide polymorphism phylogenetic analysis revealed O10:K4 strains formed a main genetic lineage,which was genetically distinct from other *** also demonstrated the presence of two type III secretion system genes(T3SS1 and T3SS2)andβlactamase resistance gene blaCARB-22 in all O10:K4 ***:The study confirmed the emergence of *** O10:K4 possessing virulence factors similar to the O3:K6 pandemic clone,which may have enabled them to become prevalent in Beijing,China.

关键词： Whole diarrhea Serum

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Synchronous endometrial and ovarian cancer: A case report

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World Journal of Clinical Cases 2023年第18期11卷 4341-4349页

作者： DianaŽilovič RūtaČiurlienė EvelinaŠidlovska Ieva Vaicekauskaitė Rasa Sabaliauskaitė Sonata Jarmalaitė Department of Oncogynecology National Cancer InstituteVilnius 08406Lithuania Institute of Biosciences Vilnius UniversityVilnius 10222Lithuania laboratory of Clinical Oncology National Cancer InstituteVilnius 08406Lithuania National Center of Pathology Affiliate of Vilnius University Hospital Santaros KlinikosVilnius 08406Lithuania laboratory of genetic diagnostic National Cancer InstituteVilnius 08406Lithuania

BACKGROUND Synchronous endometrial and ovarian cancer(SEOC)is a rare genital tract *** diagnosis is crucial for the disease management since prognosis and overall survival differ substantially between metastatic endometrial cancer(EC)or *** this review we present 2 cases of women who were diagnosed with SEOC,and discuss the clinical characteristic of SEOC,diagnostic and molecular profiling *** generation sequencing of 10 gene panel was performed on cancerous tissue and uterine lavage *** SUMMARY In our report patients with SEOC had endometroid type histology with early stage and low-grade histology for both EC and *** underwent surgical treatment and ***-generation sequencing of 10 gene-panel identified CTNNB1,PIK3CA,and PTEN gene mutations in ovarian tissue in one case,while none of these genes were mutated in other *** review in support to our data suggest a good prognosis for SEOC diagnosed at early *** Accurate diagnosis of SEOC is essential for disease management and gene mutation analysis can be helpful as a complementary diagnostic and prognostic tool.

关键词： Ovarian cancer Endometrial cancer Synchronous primary cancer Uterine lavage Case report

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Wild Brassica and Its Close Relatives in Turkey,the genetic Treasures

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Horticultural Plant Journal 2021年第2期7卷 97-107页

作者： Ali A.Donmez Zubeyde Ugurlu Aydın Xiaowu Wang Molecular Plant Systematic laboratory(MOBIS) Department of BiologyFaculty of ScienceHacettepe UniversityAnkara 06800Turkey Key laboratory of Biology and genetic Improvement of Horticultural Crops of the Ministry of Agriculture Sino-Dutch Joint Laboratory of Horticultural GenomicsInstitute of Vegetables and FlowersChinese Academy of Agricultural SciencesBeijing 100081China

Brassica taxa occur naturally and are also cultivated in *** to their economic importance,several cultivars have been extensively cultivated in certain regions of the *** extensive cultivation for vegetable production of the other species of the genus,Brassica juncea has very limited *** native species of Brassica are known from restricted locations in Turkey with only a few *** them,Brassica elongata is distributed all over the Central and Eastern parts of the country and it prefers unfertile soils on *** the current data about the Brassica taxa would lead to new initiatives for Brassica research dealing with both the genetic structure and the origin of the *** characters of the genera closely related to Brassica have been discussed under the relevant ***,an overview for the Turkish Brassiceae tribe,both native and cultivated,has been presented and the relevant identification keys have been supplied for updating.

关键词： Brassica Brassiceae cultivation native Turkey

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Genomic Analysis and Antimicrobial Resistance of Campylobacter jejuni Isolated from Diarrheal Patients—Beijing Municipality,China,2019–2021

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China CDC weekly 2023年第19期5卷 424-433,I0003,I0004页

作者： Daitao Zhang Xin Zhang Bing Lyu Yi Tian Ying Huang Changying Lin Hanqiu Yan Lei Jia Mei Qu Quanyi Wang Beijing Center for Disease Prevention and Control Beijing Key Laboratory of Diagnostic and Traceability Technologies for Food PoisoningBeijingChina School of Public Health Capital Medical UniversityBeijingChina

Introduction:Campylobacter jejuni(***)is the leading cause of human bacterial gastroenteritis worldwide and has a major impact on global public *** objective of the present study was to conduct whole genome sequencing(WGS)to determine the genetic diversity,virulence factors,and determinants of antimicrobial resistance of *** during a 3-year surveillance period in Beijing,***:A total of 184 clinical isolates were obtained from sentinel hospital surveillance between 2019 and *** susceptibility testing was conducted using the agar dilution *** was employed to characterize the 184 *** ***:Multilocus sequence typing analysis revealed high genetic diversity among the 184 *** strains,identifying 71 sequence types(STs)and 19 clonal complexes(CCs).The most prevalent ST was ST760(6.5%),and the most common CC was CC21(24.5%),consisting of 11 *** resistance rates were observed for ciprofloxacin(76.6%),nalidixic acid(76.1%),and tetracycline(71.2%).A total of 77 *** isolates(41.8%)exhibited multidrug resistance with 43 resistance *** analysis disclosed the differential distribution of virulence factors related to adherence,colonization,chemotaxis,as well as lipooligosaccharide and capsular polysaccharide *** analysis demonstrated widespread resistance to quinolones and tetracycline,but low rates of macrolides *** phylogeny,based on whole genome single nucleotide polymorphisms,indicated a high degree of clonality and grouped the *** strains into six *** related isolates that were part of a genetic cluster mostly shared a homogenous clonal ***:The present study emphasizes the rising resistance to quinolones and tetracycline,as well as the virulence potential and diverse genotypes identified among *** strains isolated from diarrheal patients in Beijing.

关键词： complex method complexes

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Prostate cancer risk-associated genetic markers and their potential clinical utility

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Asian Journal of Andrology 2013年第3期15卷 314-322页

作者： Jianfeng Xu Jielin Sun S Lilly Zheng Fudan Institute of Urology Huashan Hospital Fudan University Shanghai 200040 China State Key laboratory of genetic Engineering Fudan University Shanghai 200433 China Center for genetic Epidemiology School of Life Sciences Fudan University Shanghai 200433 China Center for Cancer Genomics Wake Forest School of Medicine Winston-Salem NC 27157 USA

Prostate cancer （PCa） is one of the most common cancers among men in Western developed countries and its incidence has increased considerably in many other parts of the world, including China. The etiology of PCa is largely unknown but is thought to be multifactorial, where inherited genetics plays an important role. In this article, we first briefly review results from studies of familial aggregation and genetic susceptibility to PCa. We then recap key findings of rare and high-penetrance PCa susceptibility genes from linkage studies in PCa families. We devote a significant portion of this article to summarizing discoveries of common and Iow-penetrance PCa risk-associated single-nucleotide polymorphisms （SNPs） from genetic association studies in PCa cases and controls, especially those from genome-wide association studies （GWASs）. A strong focus of this article is to review the literature on the potential clinical utility of these implicated genetic markers. Most of these published studies described PCa risk estimation using a genetic score derived from multiple risk-associated SNPs and its utility in determining the need for prostate biopsy. Finally, we comment on the newly proposed concept of genetic score; the notion is to treat it as a marker for genetic predisposition, similar to family history, rather than a diagnostic marker to discriminate PCa patients from non-cancer patients. Available evidence to date suggests that genetic score is an objective and better measurement of inherited risk of PCa than family history. Another unique feature of this article is the inclusion of genetic association studies of PCa in Chinese and Japanese populations.

关键词： biopsy Chinese family history genetic score heritability prostate cancer (PCa) prostate-specific antigen (PSA) PSA screen singie-nucleotide polymorphisms (SNPs)

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<i>GJB2</i>Gene Related Nonsyndromic Hearing Loss in Mazandaran Province, North of Iran

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Open Journal of genetics 2020年第3期10卷 51-63页

作者： Elaheh Hosseini Seyed Saeid Mousavi Atefeh Khoshaein Fatemeh Daneshpour Moosa Rajabi Vandchali S. Mohammad Bagher Hashemi-Soteh Novin genetic diagnostic laboratory Sari Iran Mehregan genetic Counseling Center Sari Iran Novin genetic Counseling Center Sari Iran genetic Counseling Center State Welfare Organization of Mazandaran Province Sari Iran Immunogenetic Research Center Molecular and Cell Biology Research Center Faculty of Medicine Mazandaran University of Medical Sciences Sari Iran

Introduction: Congenital hearing loss is the most common sensory deficit in the world and mutations in GJB2 gene are the most common cause of deafness in many populations. Frequency of GJB2 mutations is estimated about 16% in Iran and varies among different provinces with a decreasing trend from north to south. The aim of this study was to investigate the frequency of GJB2 mutations in Mazandaran province, north of Iran, among non-syndromic hearing loss patients. Methods: 262 patients from 204 families participated in this study. After genomic DNA extraction, GJB2 gene analysis was carried out using DNA sequencing of both coding and non-coding regions by ABI 3130XL genetic analyzer. Results: 30.15% of all subjects showed mutations in GJB2 gene. Four mutations, including c.35delG (Gly12Valfs*), IVSI-1 + 1G > A, c.95G > A (Arg32His) and c.224 G > A (Arg75Gln) comprises 69.89% of all mutations in this study c.35delG and IVSI-1 were the most common mutations among patients respectively. Codon 75 mutation (c.224G > A. p: Arg75Gln) with autosomal dominant inheritance was seen in 7 cases from 3 families. 22 patients showed only one mutation in GJB2 gene and in 126 (48.09%) individuals, parents had a consanguineous marriage. Discussion: Frequency of GJB2 gene related hearing loss among patients was higher than average (16%) in this province. This study also showed a dominant inheritance pattern of GJB2 gene in this area. Consanguineous marriage also showed highly frequent among parents. More investigation needs to clarify cause of hearing loss in those 22 patients with one mutation in GJB2 gene, either two gene inheritance or another gene may be responsible for hearing loss.

关键词： Hearing Loss GJB2 Mazandaran Hereditary Deafness Nonsyndromic

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PP2A Inhibits Cervical Cancer Cell Migration by Dephosphorylation of p-JNK,p-p38 and the p-ERK/MAPK Signaling Pathway

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Journal of Huazhong University of Science and Technology(Medical Sciences) 2018年第1期38卷 115-123页

作者： Hong-yun ZHENG Fu-jin SHEN Yong-qing TONG Yan LI Department of Clinical laboratory Renmin Hospital of Wuhan University Clinical Molecular diagnostic Center Renmin Hospital of Wuhan University Department of Gynecology Renmin Hospital of Wuhan University

Protein phosphatase 2 A（PP2 A） was reported to play an important role in cancer development;however,the relationship between PP2 A and cervical cancer development has yet to be fully *** present study aimed to explore the role of PP2 A in the development of cervical *** levels of PP2 A were detected by ELISA in 23 patients with cervical cancer and 30 patients with benign cervical ***,the PP2 A activities and the m RNA and protein levels of PP2 A were measured in cervical cancer（n=8） and chronic cervicitis（n=10） *** results showed that the serum levels of PP2 A were significantly reduced in patients with cervical *** studies showed that not only the activities of PP2 A but also the m RNA and protein levels of PP2 A were significantly decreased in cervical cancer *** healing and Transwell assays demonstrated that pharmacological and genetic upregulation of PP2 A could inhibit the migration of He La cells,but the downregulation of PP2 A promoted cellular *** activation of PP2 A also inhibited the remodeling of actin and the activity of mitogen-activated protein kinases（MAPKs） including p-JNK,p-p38 and ***,the activation of PP2 A was found to downregulate MMP-9 levels,which further inhibited the migration and invasion of He La *** conclusion,our data suggest that the activity and expression of PP2 A are significantly reduced in cervical cancer tissues,and the activation of PP2 A may inhibit the migration of cervical cancer cells by inhibiting the phosphorylation of p-JNK,p-p38 and the p-ERK/MAPK signaling pathway as well as by downregulating MMP-9,implying that PP2 A plays an important role in cervical cancer development.

关键词： protein phosphatase 2A HeLa cells migration mitogen-activated protein kinases

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