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2014/11/6 医学生
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cyanosis
[,sa?'n?s?s]
n. 发绀，紫绀，青紫
苍白病；黄萎病
词根cyan/o- =blue表示“青的，蓝绿色的”
cyanotic 青紫的；发绀的
cyanobacteria 蓝藻细菌
词组differential cyanosis差异性紫绀；差异性发绀
tardive cyanosis 迟发性发绀
cyanosis newborn 新生儿青紫
例句Cyanosis usually occurs when oxygen levels in the blood drop below 90 percent.
黄萎病通常在血液中氧气水平降到90%以下时发生。
article.yeeyan.org
Question肖锋翻译和整理
A patient presents with a third-degree AV block with a new wide-QRS complex. Why should you not rely on atropine to help stablize this patient?
一个患者因三度AVB伴新的宽QRS波群就诊。为什么你不能依赖阿托品来稳定这个病人？
AnswerThe block in this patient is likely to be in non-AV nodal tissue (such as in the bundle of His or more distal conduction system) and is not likely to be responsive to reversal of cholinergic effects by atropine.
这个病人的阻滞部位很可能在非房室结组织(如在希氏束或更远端的传导系统)，这样的传到阻滞是不可能对阿托品的胆碱能拮抗作用有反应(Circulation,2010;122:S729)。
Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease.
APOC3的功能缺失突变和甘油三酯水平以及冠心病风险的相关性
期刊名称：新英格兰医学杂志(NEJM)
发表时间：2014-06-18
索引：N. Engl. J. Med..2014 Jun 18;
中文摘要来源：麦毓麟翻译 穆冰审核
Background
Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
Methods
We sequenced the protein-coding regions of 18,666 genes in each of 3734 participants of European or African ancestry in the Exome Sequencing Project. We conducted tests to determine whether rare mutations in coding sequence, individually or in aggregate within a gene, were associated with plasma triglyceride levels. For mutations associated with triglyceride levels, we subsequently evaluated their association with the risk of coronary heart disease in 110,970 persons.
Results
An aggregate of rare mutations in the gene encoding apolipoprotein C3 (APOC3) was associated with lower plasma triglyceride levels. Among the four mutations that drove this result, three were loss-of-function mutations: a nonsense mutation (R19X) and two splice-site mutations (IVS2+1G→A and IVS3+1G→T). The fourth was a missense mutation (A43T). Approximately 1 in 150 persons in the study was a heterozygous carrier of at least one of these four mutations. Triglyceride levels in the carriers were 39% lower than levels in noncarriers (P<1×10(-20)), and circulating levels of APOC3 in carriers were 46% lower than levels in noncarriers (P=8×10(-10)). The risk of coronary heart disease among 498 carriers of any rare APOC3 mutation was 40% lower than the risk among 110,472 noncarriers (odds ratio, 0.60; 95% confidence interval, 0.47 to 0.75; P=4×10(-6)).
Conclusions
Rare mutations that disrupt APOC3 function were associated with lower levels of plasma triglycerides and APOC3. Carriers of these mutations were found to have a reduced risk of coronary heart disease. (Funded by the National Heart, Lung, and Blood Institute and others.).
研究背景：
血浆甘油三酯水平是遗传性的，并且和冠心病风险相关。使用人类基因组(外显子组)的蛋白编码区域测序可以找到对表型有较大影响的少见突变。
研究方法：
我们在外显子组测序计划中对3734名欧洲裔或非裔参与者的18666个基因的蛋白编码区域进行测序。对编码区域的少见突变进行检测，以确定其是否和血浆甘油三酯水平相关，这些突变可能是散发的或是集中在一个基因中。对于和甘油三酯水平相关的突变，我们在110970名人中依次评估了它们和冠心病风险的相关性。
研究结果：
一组编码载脂蛋白C3(APOC3)的少见突变和较低的血浆甘油三酯水平相关。该结果的四个驱动突变中，三个是功能缺失突变：一个无义突变(R19X)和两个剪接位点突变(IVS2+1G→A and IVS3+1G→T)。第四个是错义突变(A43T)。该研究中，每150个人中大约有1人为杂合基因携带者，即至少含有该四个突变中的一个。携带者的甘油三酯水平较非携带者低39%(P<1×10?20)，携带者的APOC3水平叫非携带者低46%(P=8×10?10)。在有任一少见APOC3突变的498个携带者中，冠心病的风险较非携带者低40%(风险比，0.60；95%置信区间，0.47到0.75；P=4×10?6)。
研究结论：
影响APOC3功能的少见突变和较低的血浆甘油三酯水平相关。我们发现携带这些突变的人群冠心病风险下降。
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