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First report of a de novo germline mutation in the MLH1 gene

World Journal of Gastroenterology 2006年第5期12卷 809-811页

作者： Rein P Stulp yvonne J Vos Bart Mol Arend Karrenbeld Monique de Raad Huub JC van der Mijle Rolf H Sijmons Department of Clmical Genetics University Medical Center GroningenPO Box 300019700 RB GroningenThe Netherlands Department of Pathology University Medical Center GroningenPO Box 300019700 RB GroningenThe Netherlands Department of Surgery Nij Smellinghe HospitalPO Box 202009200 DA DrachtenThe Netherlands

Hereditary non-polyposis colorectal carcinoma （HNPCC） is an autosomal dominant disorder associated with colorectal and endometrial cancer and a range of other tumor types. Germline mutations in the DNA mismatch repair （MMR） genes, particularly MLH1, MEH2, and MEH5, underlie this disorder. The vast majority of these HNPCC-associated mutations have been proven, or assumed, given the family history of cancer, to be transmitted through several generations. To the best of our knowledge, only a single case of a de novo germline MMR gene mutation （in MEH2） has been reported till now. Here, we report a patient with a de novo mutation in MLH1. We identified a MLH1 Q701X truncating mutation in the blood lymphocytes of a male who had been diagnosed with rectal cancer at the age of 35. His family history of cancer was negative for the first- and second-degree relatives. The mutation could not be detected in the patient＇s parents and sibling and paternity was confirmed with a set of highly polymorphic markers. Non-penetrance and small family size is the common explanation of verified negative family histories of cancer in patients with a germline MMR gene mutation. However, in addition to some cases explained by non-paternity, de novo germline mutations should be considered as a possible explanation as well. As guidelines that stress not to restrict MMR gene mutation testing to patients with a positive family history are more widely introduced, more cases of de novo MMR gene germline mutations may be revealed.

关键词： MLH1 de novo HNPCC Germline mutation

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Epidemiology and immunodiagnostics of Strongyloides stercoralis infections among migrant workers in Malaysia

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Asian Pacific Journal of Tropical Medicine 2019年第6期12卷 250-257页

作者： Norhidayu Sahimin yvonne A.L.Lim Rahmah Noordin Muhammad Hafiznur Yunus Norsyahida Arifin Jerzy Marian Behnke Siti Nursheena Mohd Zain Tropical Infectious Diseases Research and Education Centre(TIDREC) University of Malaya50603 Kuala LumpurMalaysia Department of Parasitology Faculty of MedicineUniversity of MalayaKuala Lumpur.Malaysia Institute for Research in Molecular Medicine(INFORMM) Universiti Sains Malaysia11800 Pulau PinangMalaysia School of Life Sciences University of NottinghamUniversity ParkNottinghamNG7 2RDUK Institute of Biological Science Faculty of ScienceUniversity of MalayaKuala LumpurMalaysia

Objective: To investigate the status of Strongyloides(S.) stercoralis infections among migrant workers in Malaysia for the first time and identify risk ***: Four diagnostic methods were employed for the detection of S. stercoralis including microscopy, enzyme-linked immunosorbent assay(ELISA) using a commercial kit, ELISA using the rSs1a antigen and polymerase chain reaction(PCR). Low and semi-skilled workers from five working sectors(i.e. manufacturing, food service, agriculture and plantation, construction and domestic service) were tested on a voluntary basis. Results: The overall seroprevalence of S. stercoralis from 483 workers employing the ELISA commercial kit for IgG was 35.8%(n=173;95% CI: 31.5%-40.1%) whereas seroprevalence using the rSs1a-ELISA was 13.0%(n=63;95% CI: 10.0%-16.0%). Cross tabulation between the ELISA commercial kit and rSs1a-ELISA showed that only 6.4%(n=31;95% CI: 4.2%-8.6%) of the samples were positive in both tests. Microscopic examination of all 388 fecal samples were negative;however subsequent testing by a nested PCR against DNA from the same samples successfully amplified DNA from three male subjects(0.8%;3/388). Male workers, India and Myanmar nationality, food service occupation and those living in the hostel were statistically significant with seroprevalence(P<0.005). Conclusion: This is the first report on the epidemiology of S. stercoralis infections among the migrant workers in Malaysia. Our results highlight the importance of using appropriate diagnostic tools for detection. The presence of anti-S. stercoralis antibodies in the study population calls for improvements in personal hygiene and sanitation standards among migrant workers in Malaysia through control strategies including health education campaigns and programs aimed at increasing awareness and healthy behaviors.

关键词： Strongyloides stercoralis Migrant workers Microscopic examination Serological analysis PCR

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Comparison of bacterial quantities in left and right colon biopsies and faeces

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World Journal of Gastroenterology 2012年第32期18卷 4404-4411页

作者： Anna Lyra Sofia Forssten Peter Rolny yvonne Wettergren Sampo J Lahtinen Krista Salli Lennart Cedgrd Elisabeth Odin Bengt Gustavsson Arthur C Ouwehand DuPont Nutrition and Health KantvikActive Nutrition02460 KantvikFinland Department of Medicine Sahlgrenska AcademyUniversity of GothenburgS-41685 GothenburgSweden Wasa MedicalsAB Probiotic DivisionS-302 91 HalmstadSweden Department of Surgery Sahlgrenska AcademyUniversity of GothenburgS-41685 GothenburgSweden

AIM:To compare quantities of predominant and pathogenic bacteria in mucosal and faecal ***:Twenty patients undergoing diagnostic colonoscopy with endoscopically and histologically normal mucosa were recruited to the study,14 subjects of which also supplied faecal(F) samples between 15 d to 105 d post *** biopsies were taken from each subject from the midportion of the ascending colon(right side samples,RM) and the sigmoid(left side samples,LM).Predominant intestinal and mucosal bacteria including clostridial 16S rRNA gene clusters Ⅳ and ⅩⅣab,Bacteroidetes,Enterobacteriaceae,Bifidobacterium spp.,Akkermansia muciniphila(***),Veillonella spp.,Collinsella spp.,Faecalibacterium prausnitzii(***) and putative pathogens such asEscherichia coli(***),Clostridium difficile(***),Helicobacter pylori(***) and Staphylococcus aureus(***) were analysed by quantitative polymerase chain reaction(qPCR).Host DNA was quantified from the mucosal samples with human glyceraldehyde 3-phosphate dehydrogenase gene targeting *** t tests and the Pearson correlation were applied for statistical ***:The most prominent bacterial groups were clostridial groups Ⅳ and ⅩⅣa+b andBacteroidetes and bacterial species *** in both sample *** and *** were not detected and *** was detected in only one mucosal sample and three faecal *** was detected in less than half of the mucosal samples at both sites,but was present in all faecal *** detected bacteria,except Enterobacteriaceae,were present at higher levels in the faeces than in the mucosa,but the different locations in the colon presented comparable quantities(RM,LM and F followed byP 1 for RMvs F,P 2 for LMvs F andP 3 for RM vs LM:4.17 ± 0.60 log 10 /g,4.16 ± 0.56 log 10 /g,5.88 ± 1.92 log 10 /g,P 1 = 0.011,P 2 = 0.0069,P 3 = 0.9778 ***;6.25 ± 1.3 log 10 /g,6.09 ± 0.81 log 10 /g,8.84 ± 1.38 log 10 /g,P

关键词： Gastrointestinal microbiota Mucosa Faeces Real-time quantitative polymerase chain reaction Sampling

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Cross-Validation, Shrinkage and Variable Selection in Linear Regression Revisited

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Open Journal of Statistics 2013年第2期3卷 79-102页

作者： Hans C. van Houwelingen willi Sauerbrei Department of Medical Statistics and Bioinformatics Leiden University Medical Center Leiden The Netherlands Institut fuer Medizinische Biometrie und Medizinische Informatik Universitaetsklinikum Freiburg Freiburg Germany

In deriving a regression model analysts often have to use variable selection, despite of problems introduced by data- dependent model building. Resampling approaches are proposed to handle some of the critical issues. In order to assess and compare several strategies, we will conduct a simulation study with 15 predictors and a complex correlation structure in the linear regression model. Using sample sizes of 100 and 400 and estimates of the residual variance corresponding to R2 of 0.50 and 0.71, we consider 4 scenarios with varying amount of information. We also consider two examples with 24 and 13 predictors, respectively. We will discuss the value of cross-validation, shrinkage and backward elimination (BE) with varying significance level. We will assess whether 2-step approaches using global or parameterwise shrinkage (PWSF) can improve selected models and will compare results to models derived with the LASSO procedure. Beside of MSE we will use model sparsity and further criteria for model assessment. The amount of information in the data has an influence on the selected models and the comparison of the procedures. None of the approaches was best in all scenarios. The performance of backward elimination with a suitably chosen significance level was not worse compared to the LASSO and BE models selected were much sparser, an important advantage for interpretation and transportability. Compared to global shrinkage, PWSF had better performance. Provided that the amount of information is not too small, we conclude that BE followed by PWSF is a suitable approach when variable selection is a key part of data analysis.

关键词： Cross-Validation LASSO Shrinkage Simulation Study Variable Selection

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产出绩效评估对图图梅区小学学习表现影响

产出绩效评估对图图梅区小学学习表现影响

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作者： yvonne Makwaeba 华东师范大学

学位级别：硕士

该研究调查了产出绩效评估对图图梅(Tutume)区小学学习表现的影响。本研究使用了目的性抽样和随机抽样两种抽样方法。本研究的目标人群包含了图图梅区小学的教学人员,包括蒂尼(Thini)、马加帕托纳(Magapatona)、图图梅中心小学,目标人数... 详细信息

该研究调查了产出绩效评估对图图梅(Tutume)区小学学习表现的影响。本研究使用了目的性抽样和随机抽样两种抽样方法。本研究的目标人群包含了图图梅区小学的教学人员,包括蒂尼(Thini)、马加帕托纳(Magapatona)、图图梅中心小学,目标人数为50人。这些教学人员是课程实施者,通过实行绩效评估而达到相应的学习表现。研究者利用伊图腾(Ithuteng)小学的教学人员进行试点研究以测试研究工具。这所学校也在同一个基础教育部的领导之下,因此,其所使用的教学策略及其审查原则与来自图图梅区小学的研究目标相似。研究者以问卷调查为研究方法。研究发现,对产出绩效评估在改善教学和学习方面起着非常关键的作用。研究指出,如果付出了应有的努力,必然能取得成功。通过在学科层面上进行绩效评估,并在之后将其推广到整个学校层面,学习表现将得以提升。尽管调查结果对绩效评估表示了肯定,但受访者提出了一些与之相反的观点。受访者认为这种做法不是为了带来积极的变化,而是为了取悦他们的雇主。

关键词：绩效评估产出学习表现

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衬砌间隙能吸收岩石变形

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铁道建筑 1993年第9期33卷 37-38页

作者： willi Braun 李福庭

在奥地利蒂罗尔州的Inntal铁路隧道开挖期间,事实说明了当开挖面缩小使任何隧道掘进机都陷入困境时能用新奥法施工。一个世界著名的隧道掘进机公司总经理Dick Robbins承认公司里的工程技术人员们还远不能承担本职工作以外的钻爆工作。... 详细信息

在奥地利蒂罗尔州的Inntal铁路隧道开挖期间,事实说明了当开挖面缩小使任何隧道掘进机都陷入困境时能用新奥法施工。一个世界著名的隧道掘进机公司总经理Dick Robbins承认公司里的工程技术人员们还远不能承担本职工作以外的钻爆工作。为此,

关键词：衬砌衬砌间隙隧道岩石变形

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Immune and microRNA responses to Helicobacter muridarum infection and indole-3-carbinol during colitis

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World Journal of Gastroenterology 2020年第32期26卷 4763-4785页

作者： Rasha Raheem Alkarkoushi yvonne Hui Abbas S Tavakoli Udai Singh Prakash Nagarkatti Mitzi Nagarkatti Ioulia Chatzistamou Marpe Bam Traci L Testerman Department of Pathology Microbiology and ImmunologyUniversity of South Carolina School of MedicineColumbiaSC 29209United States College of Nursing University of South CarolinaUniversity of South CarolinaColumbiaSC 29208United States Department of Medicine Hematology and OncologyUniversity of Virginia School of MedicineCharlottesvilleVA 22908United States

BACKGROUND Indole-3-carbinol(I3C)and other aryl hydrocarbon receptor agonists are known to modulate the immune system and ameliorate various inflammatory and autoimmune diseases in animal models,including colitis induced by dextran sulfate sodium(DSS).MicroRNAs(miRNAs)are also gaining traction as potential therapeutic agents or diagnostic *** Helicobacter(EHH)species are associated with an increased risk of inflammatory bowel disease,but little is known about how these species affect the immune system or response to *** To determine whether infection with an EHH species alters the response to I3C and how the immune and miRNA responses of an EHH species compare with responses to DSS and inflammatory bowel *** We infected C57BL/6 mice with Helicobacter muridarum(***),with and without DSS and I3C *** responses were evaluated by histological examination,symptom scores,and cytokine *** analysis was performed on mesenteric lymph nodes to further evaluate the regional immune *** *** infection alone caused colonic inflammation and upregulated proinflammatory,macrophage-associated cytokines in the colon similar to changes seen in DSS-treated *** upregulation occurred upon treatment with *** infection caused broad changes in mesenteric lymph node miRNA expression,but colitis-associated miRNAs were regulated similarly in ***-infected and uninfected,DSS-treated *** spite of causing colitis exacerbation,*** infection did not prevent disease amelioration by I3C.I3C normalized both macrophage-and T cell-associated *** Thus,I3C may be useful for inflammatory bowel disease patients regardless of EHH *** miRNA changes associated with I3C treatment are likely the result of,rather than the cause of immune response changes.

关键词： Helicobacter muridarum MicroRNA Immune T regulatory cell T helper 17 cell Colitis Cytokine

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Social integration: How is it related to self-rated health?

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Advances in Aging Research 2013年第1期2卷 10-20页

作者： Hejun Kang yvonne L. Michael Department of Epidemiology and Biostatistics Drexel University Philadelphia USA Department of Geography University of Idaho Moscow USA

Social integration has well-established health benefits among older adults in observational studies. However, interventions designed to increase social integration have not improved health suggesting important knowledge gaps on how social integration influences health outcomes. This study developed a new measure of social integration, daily social contact, capturing the interpersonal nature of social integration and mobility of individuals, and providing a direct assessment of individuals’ real-time access to companionship and social support. The data used is the 2006-2007 American Time Use Survey (ATUS), which surveyed 25,191 individuals aged 15 years and older (n = 4378 aged 65 years and older). Generalized ordinal logistic regression analyses revealed positive, but non-parallel relationships between daily social contacts and the ordinal categories of self-rated health among older adults. This study may be used to identify populations that experience social exclusion, such that future research can determine more precisely how to intervene to improve health outcomes.

关键词： Daily Social Contact Social Integration Self-Rated Health Older Adults Generalized Ordinal Logistic Regression

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采用水墨为环保做贡献

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印刷技术 2000年第7期 29-30页

作者： yvonne Krol 林华

近年来,欧洲各国的环保法规越来越严格,法规中对印刷业VOC(挥发性有机化合物)的排放更有明确限制。因此很多公司为了遵守法规,对自己的工厂或工艺采取了相应的改进措施。荷兰Polarcup公司是Huhtamaki Van Leer集团的重要组成部分,主要... 详细信息

近年来,欧洲各国的环保法规越来越严格,法规中对印刷业VOC(挥发性有机化合物)的排放更有明确限制。因此很多公司为了遵守法规,对自己的工厂或工艺采取了相应的改进措施。荷兰Polarcup公司是Huhtamaki Van Leer集团的重要组成部分,主要产品是纸杯及硬塑料杯。Polarcup公司日产纸杯300万个,其中有1/3是用BHS四色宽幅柔印机印刷的,其余纸杯则用一台Kochsiek六色凹印机、一台KBA Planeta单张纸五色胶印机及一台三菱单张纸六色胶印机印刷。据Polarcup公司印刷部经理Helma Arink介绍。

关键词：印刷水墨环保油墨清洗工作

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Fatal case of amoebic liver abscess in a child

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Asian Pacific Journal of Tropical Medicine 2015年第10期8卷 858-860页

作者： Khuen Foong Ng Kah Kee Tan Romano Ngui yvonne AL Lim Amirah Amir Yamuna Rajoo Hamimah Hassan Rohela Mahmud Department of Pediatric Tuanku Jaafar Hospital Department of Parasitology Faculty of MedicineUniversity of Malaya Department of Medical Microbiology Faculty of MedicineUniversity of Malaya

We reported a case of amoebic liver abscess(ALA) in a 6-year-old Malaysian boy who presented with fever,lethargy,diarrhea and right hypochondriac *** admission he was diagnosed with perforated acute appendicitis and a laparotomy was *** surgery he developed acute respiratory ***,chest X-Ray and CT scan revealed two ALAs in the posterior segment of right lobe of liver,pleural effusion and collapsed consolidation of lungs *** liver abscesses drainage was done and intravenous Metronidazole was *** carried out on the pus from the abscess was positive for Entamoeba *** however succumbed to the infection one week after admission.

关键词： Amoebic liver abscess Entamoeba histolytica Childr

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