Medical English | Day27
2014/12/6 医学生

    

     mesencephalon

     [,mesen'sef(?)l?n]

     n. [解剖] 中脑

     词根mes/o-表示中间的

     mesopore 中孔

     mesotherm 中温植物;温带生物

     词组mesencephalon infarction中脑梗塞

     aqueduct mesencephalon中脑导水管

     ventral mesencephalon腹侧中脑

     lamina tectum mesencephalon中脑顶盖层

     例句Vertebrate brains consist of the hindbrain (rhombencephalon), midbrain (mesencephalon), and forebrain (prosencephalon).

     高等脊椎动物的脑包括后脑、中脑和前脑。

     dict.hjenglish.com

     Question肖锋 翻译和整理

     What is Hansen's disease?

     什么是汉森氏病?

     AnswerHansen's disease, or leprosy, is caused by Mycobacterium leprae and continues to occur in the US. It is a chronic disease affecting skin and nerves, commonly presenting as pale or reddish skinpatches with diminished sensation.

     汉森氏病,或麻风病,是由麻风分枝杆菌引起的,在美国还在陆续出现 。它是一种累及皮肤和神经的慢性疾病,一般表现为皮肤片状苍白或发红并伴有感觉减弱(MMWRweekly, 10/31/14)。

     Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing.

     患者应用临床全外显组测序的分子发现

     Yaping Yang ,Donna M Muzny ,Fan Xia ,Zhiyv Niu ,Richard Person ,Yan Ding

     美国医学会杂志(JAMA)

     2014-10-18

     索引:JAMA 2014 Oct;

     中文摘要来源:Medsci

     Importance

     Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders.

     Objective

     To perform clinical whole-exome sequencing and report (1) the rate of molecular diagnosis among phenotypic groups, (2) the spectrum of genetic alterations contributing to disease, and (3) the prevalence of medically actionable incidental findings such as FBN1 mutations causing Marfan syndrome.

     Design, Setting, and Patients

     Observational study of 2000 consecutive patients with clinical whole-exome sequencing analyzed between June 2012 and August 2014. Whole-exome sequencing tests were performed at a clinical genetics laboratory in the United States. Results were reported by clinical molecular geneticists certified by the American Board of Medical Genetics and Genomics. Tests were ordered by the patient's physician. The patients were primarily pediatric (1756 [88%]; mean age, 6 years; 888 females [44%], 1101 males [55%], and 11 fetuses [1% gender unknown]), demonstrating diverse clinical manifestations most often including nervous system dysfunction such as developmental delay.

     Main Outcomes and Measures

     Whole-exome sequencing diagnosis rate overall and by phenotypic category, mode of inheritance, spectrum of genetic events, and reporting of incidental findings.

     Results

     A molecular diagnosis was reported for 504 patients (25.2%) with 58% of the diagnostic mutations not previously reported. Molecular diagnosis rates for each phenotypic category were 143/526 (27.2%; 95% CI, 23.5%-31.2%) for the neurological group, 282/1147 (24.6%; 95% CI, 22.1%-27.2%) for the neurological plus other organ systems group, 30/83 (36.1%; 95% CI, 26.1%-47.5%) for the specific neurological group, and 49/244 (20.1%; 95% CI, 15.6%-25.8%) for the nonneurological group. The Mendelian disease patterns of the 527 molecular diagnoses included 280 (53.1%) autosomal dominant, 181 (34.3%) autosomal recessive (including 5 with uniparental disomy), 65 (12.3%) X-linked, and 1 (0.2%) mitochondrial. Of 504 patients with a molecular diagnosis, 23 (4.6%) had blended phenotypes resulting from 2 single gene defects. About 30% of the positive cases harbored mutations in disease genes reported since 2011. There were 95 medically actionable incidental findings in genes unrelated to the phenotype but with immediate implications for management in 92 patients (4.6%), including 59 patients (3%) with mutations in genes recommended for reporting by the American College of Medical Genetics and Genomics.

     Conclusions and Relevance

     Whole-exome sequencing provided a potential molecular diagnosis for 25% of a large cohort of patients referred for evaluation of suspected genetic conditions, including detection of rare genetic events and new mutations contributing to disease. The yield of whole-exome sequencing may offer advantages over traditional molecular diagnostic approaches in certain patients.

     目标:进行临床全外显组测序并完成三个方面的报告:(1)不同表型组的分子诊断率;(2)导致疾病的遗传学变异谱和(3)医学上可操作的偶然发现的普遍性,比如FBN1突变导致的马凡氏综合征(Marfan syndrome)。

     试验设计:2000名患者参加了自2012年6月开始到2014年8月结束的临床全外显组测序分析试验。该实验是病人根据医生的安排在美国的一个临床遗传实验室进行的。实验结果通过了美国医学遗传学和基因组学委员会的认证。小儿科患者占到了大多数(共有1756名 [88%]; 平均6岁; 888名女性 [44%], 1101名 男性 [55%]和11名 胎儿 [1% 性别未知]),这同时也证明了临床疾患的多样性,其中又以神经系统功能障碍,比如发育迟缓等疾病为常见。

     主要预期:全外显组测序的整体诊断率以及各表型类别的诊断率,遗传模式(mode of inheritance),遗传事件(genetic events)谱系以及报告偶发事件。

     结果:504(25.2%)名已报告患者的分子诊断结果中,58%的诊断突变为首次发现。各表型分组的分子诊断率为:神经病学组143/526 (27.2%; 95%CI, 23.5%-31.2%);神经病学加其他器官系统组282/1147 (24.6%; 95%CI, 22.1%-27.2%);特定神经病学组30/83 (36.1%; 95%CI, 26.1%-47.5%)以及非神经病学组49/244 (20.1%; 95%CI, 15.6%-25.8%)。在527名孟德尔遗传病患者中,常染色体显性遗传病有280人(53.1%),常染色体隐性遗传病有181人 (34.3%, 包括5名单亲源二体),X染色体连锁65 人(12.3%)和1(0.2%)个与线粒体有关的疾病。在504名患者中,23(4.6%)人有由于2个单基因缺陷导致的混合表型出现。大约30%的疾病基因突变事件自2011年以来已有报道。本次试验中,92 (4.6%)位病人中总计有95个医学上可操作的偶然发现与表型无关,但与管理直接相关,其中的59名患者有基因重组突变。

     结论:全外显组测为25%的为寻求评估可疑遗传背景的患者,包括检测罕见遗传事件和新突变等提供了可能的分子诊断手段。对一些特定患者,全外显组测可以提供比传统分子诊断更具优势的手段。

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