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| 1 | Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases显示文摘AIM: To investigate whether whole-exome sequencing may serve as an efficient method to identify known or novel colorectal cancer(CRC) predisposing genes in early-onset or familial CRC cases.METHODS: We performed whole-exome sequencing in 23 Chinese patients from 21 families with nonpolyposis CRC diagnosed at ≤ 40 years of age, or from multiple affected CRC families with at least 1 firstdegree relative diagnosed with CRC at ≤ 55 years of age.Genomic DNA from blood was enriched for exome sequences using the Sure Select Human All Exon Kit, version 2(Agilent Technologies) and sequencing was performed on an Illumina Hi Seq 2000 platform.Data were processed through an analytical pipeline to search for rare germline variants in known or novel CRC predisposing genes.RESULTS: In total, 32 germline variants in 23 genes were identified and confirmed by Sanger sequencing.In 6 of the 21 families(29%), we identified 7 mutations in 3 known CRC predisposing genes including MLH1(5 patients), MSH2(1 patient), and MUTYH(biallelic, 1 patient), five of which were reported as pathogenic.Inthe remaining 15 families, we identified 20 rare and novel potentially deleterious variants in 19 genes, six of which were truncating mutations.One previously unreported variant identified in a conserved region of EIF2AK4(p.Glu738_Asp739insA rgA rg) was found to represent a local Chinese variant, which was significantly enriched in our early-onset CRC patient cohort compared to a control cohort of 100 healthy Chinese individuals scored negative by colonoscopy(33.3% vs 7%, P < 0.001).CONCLUSION: Whole-exome sequencing of early-onset or familial CRC cases serves as an efficient method to identify known and potential pathogenic variants in established and novel candidate CRC predisposing genes. | Jun-Xiao Zhang Lei Fu Richarda M de Voer Marc-Manuel Hahn Peng Jin Chen-Xi Lv Eugène TP Verwiel Marjolijn JL Ligtenberg Nicoline Hoogerbrugge Roland P Kuiper Jian-Qiu Sheng Ad Geurts van Kessel | 2015 | World Journal of Gastroenterology2015，21，14： | 1 |
| 2 | Malignant Adenomyoepithelioma of the breast with metastasis in the thyroid gland 12 years after excision of the primary tumor显示文摘 | Bult P Verwiel J M Wobbes T | 2000 | Virchows Arch2000，436，2： | 1 |
| 3 | Differences in cartilage-forming capacity of expanded human chondrocytes from ear and noseand their gene expression profiles 显示文摘 | Hellingman CA Verwiel ET Slagt I | 2011 | Cell Transplant2011，20，6： | 1 |
| 4 | Bacteria in blood smears: overwhelming sepsis or trivial contamination显示文摘 | Vander Meer W Verwiel JM Gidding CE | 2002 | Acta Haematol2002，107，4： | 1 |
| 5 | Transfi~- raminal lumbar interbody filsion: elinical and radio- graphic results and complications in 100 ('onseeulive patients显示文摘 | Potter BK Freedman BA Verwiel)e EG | 2005 | J Spinal Disord Tech2005，18，4： | 1 |
| 6 | Malignant adenomyoepitheli- oma of the breast with metastasis in the thyroid gland 12 years after excision of the primary tumor Case report and review of the literature 显示文摘 | Buh P Verwiel JM Wobbes T | 2000 | Virchows Arch2000，436，2： | 1 |
| 7 | Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer显示文摘 | Richarda M. de Voer Ad Geurts van Kessel Robbert D.A. Weren Marjolijn J.L. Ligtenberg Dominique Smeets Lei Fu Lilian Vreede Eveline J. Kamping Eugène T.P. Verwiel Marc-Manuel Hahn Maayke Ariaans Liesbeth Spruijt Ton van Essen Gunnar Houge Hans K. Schacker | 2013 | Gastroenterology2013，，： | 1 |
| 8 | On the mechanism of inhibition of methanol dehydrogenase by cyclopropane-derived inhibitors显示文摘 | FRANK J JR VAN KRIMPEN S H VERWIEL P E | 1989 | Eur J Biochem1989，184，1： | 1 |
| 9 | Malignant adenomyoe- pithelioma of the breast with metastasis in the thyroid gland 12 years after excision of the primary tumor: case report andreview of the literature显示文摘 | Bult P Verwiel JM Wobbes T | 2000 | Virehows Arch2000，436，2： | 1 |
| 10 | Malignant adenomyoepi- thelioma of the breast with metastasis in the thyroid gland 12 years after excision of the primary tumor: case report and review of the literature 显示文摘 | Bult P Verwiel J M Wobbes T | 2000 | Virohows Arch2000，436，2： | 1 |
| 11 | Structure and activity of the prosthetic group of methanol dehydrogenase显示文摘 | Duine J A Frank J Verwiel P E | 1980 | Eur J Biochem1980，108，4： | 1 |
| 12 | Bacteria in blood smears:overwhelming sepsis or trivial contamination显示文摘 | Vander Meer W Verwiel JM Gidding CE | 2002 | Acta Haematol2002，107，4： | 1 |
| 13 | Structure and activity of the prosthetic group of methanol dehydrogenase 显示文摘 | DUINE J A FRANK J VERWIEL P E J | 1980 | Eur J Biochem1980，108，1： | 1 |
| 14 | BMC Family Practice论文摘要汇编——全科医生接诊原因不明症状患者时遇到的困难的定性研究显示文摘背景许多全科医生很难与具有原因不明症状的患者进行沟通。本研究旨在调查全科医生在与此类患者沟通时遇到了哪些困难。方法对全科医生接诊过程进行录像。在全科医生接诊后立即对其进行调查,询问是否发现患者具有原因不明症状。然后对全科医生和患者分别进行关于就诊方面的半结构式访谈,访谈时同时观看其就诊录像。采用持续比较法对全科医生认为其在诊断具有原因不明症状患者时遇到的困难,或者全科医生叙述表明其需要应该采取其他治疗措施的访谈内容进行定性分析,同时对录像显示的患者在就诊时遇到的困难进行分析,以调查医患沟通中出现的问题。结果共计20例全科医生参加了研究,其中2例从未接诊过具有原因不明症状的患者,其余18例对39场接诊原因不明症状患者的过程进行评论。其中11场接诊被认为没有遇到任何困难。但是全科医生对其他28场接诊过程中的60个困难环节发表了84个评论。根据调查结果总结出了3项改进全科医生与患者沟通的建议:进一步学习心理社会知识、组织好接诊过程(注意总结和共享接诊日程)、以患者为中心(更多关注患者预约原因、患者叙述内容、诊疗质量以及医患共同决策)。在观看全科医生接诊时经历的困难的录像后,大多数患者(n=42)肯定全科医生在接诊时遇到了难处。在诊疗过程中医患同时遇到了困难的录像(n=9)显示缺少医患对话(全科医生在思考并向患者提出封闭性问题而且打断患者的发言)。结论全科医生认识到了良好的医患沟通的重要性。认为,可以通过进一步注意学习心理社会知识、组织好接诊过程并以患者为中心的方式进行沟通来提升医患沟通的质量。医患同时遇到了难处的接诊过程特点为医患之间缺乏对话,医生沉浸在自我的构思中,向患者提出封闭式问题并经常打断患者的发言。 | HOUWEN J LUCASSEN P VERWIEL A 本刊编辑部 | 2020 | 中国全科医学2020，23，8： | 0 |
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