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转氨酶偏高，肌酸激酶高，小孩五岁，怀疑肌肉疾病
状态：就诊前
查DMD的点突变。如果还正常，就需要基因检查。
大夫郑重提醒：因不能面诊患者，无法全面了解病情，以上建议仅供参考，具体诊疗请一定到医院在医生指导下进行！
状态：就诊前
已经在北京儿童医院做基因检查
基因检查结果为：
该样本检测到DMD基因第21号外显子上的c.2645A>G点突变，第37号外显子上的c.5234G>A点突变和第59号外显子上的c.8810G>A点突变，这些突变均为错义突变，可导致该基因编码抗肌萎缩蛋白的第882位密码子由天冬氨酸改变为甘氨酸，第1745位密码子由精氨酸改变为组氨酸，第2937位密码子由精氨酸改变为谷氨酰胺。根据文献记录[Flanigan KM, et al., 2009]，这些突变均被报道多次，可能影响抗肌萎缩蛋白的结构和功能，但不能确定为致病突变。
小孩所患疾病是否确定为肌营养不良，肌肉活检一定要做吗？
已经明确诊断，就是肌营养不良，特别是DMD .无需肌肉活检，需要进行肌肉MRI检查，判断肌肉损害程度
大夫郑重提醒：因不能面诊患者，无法全面了解病情，以上建议仅供参考，具体诊疗请一定到医院在医生指导下进行！
马上进行强的松治疗吧
大夫郑重提醒：因不能面诊患者，无法全面了解病情，以上建议仅供参考，具体诊疗请一定到医院在医生指导下进行！
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袁云大夫的信息
神经肌肉病
袁云博士，主任医师，教授，博士生导师。神经内科研究室主任、北京大学神经病学系副主任兼秘书、亚太肌病中...
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北京天坛医院
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杜兴氏肌肉营养不良症dmd基因检测多少钱儿研所
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【medical-news】科学家鉴定出能提升肌肉性能的基因
【medical-news】科学家鉴定出能提升肌肉性能的基因
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Dartmouth researchers identify a gene that enhances muscle performanceThe researchers report that the enzyme called AMP-activated protein kinase (or AMPK) is directly involved in optimizing muscle activity. The team bred a mouse that genetically expressed AMPK in an activated state. Like a trained athlete, this mouse enjoyed increased capacity to exercise, manifested by its ability to run three times longer than a normal mouse before exhaustion. One particularly striking feature of the finding was the accumulation of muscle glycogen, the stored form of carbohydrates, a condition that many athletes seek by "carbo-loading" before an event or game. The study appears in the Nov. 14 online issue of the American Journal of Physiology: Endocrinology and Metabolism."Our genetically altered mouse appears to have already been an exercise program," says Lee Witters, the Eugene W. Leonard 1921 Professor of Medicine and Biochemistry at Dartmouth Medical School and professor of biological sciences at Dartmouth College. "In other words, without a prior exercise regimen, the mouse developed many of the muscle features that would only be observed after a period of exercise training."Witters, whose lab led the study, explains that this finding has implication for anyone with a muscle disease and especially for the growing proportion of the population that is aging. Deteriorating muscles often make the elderly much more prone to fall, leading to hip and other fractures. According to Witters, there is tremendous interest in the geriatric field to find ways to improve muscle performance. "We now wonder if it's possible to achieve elements of muscular fitness without having to exercise, which in turn, raises many questions about possible modes of exercise performance enhancement, including the development of drugs that could do the same thing as we have done genetically," he says. "This also might raise to some the specter of 'gene doping,' something seriously being talked about in the future of high-performance athletes."Witters says that the carbohydrate, glucose, is a major fuel that powers muscles, and this contributes directly to a muscle's ability to repetitively contract during exercise. The activated AMPK in the Dartmouth mouse appears to have increased glycogen content by actually switching on a gene that normally synthesizes liver glycogen. "The switching on of this liver gene in muscles," he says, "is a shift in the conception of the biochemistry of muscle metabolism, since many enzyme genes are thought to only be active in just one tissue."Other authors on the paper include Laura Barré, Christine Richardson, and Steven Fiering, all at D Michael Hirshman and Laurie Goodyear of Joslin Diabetes Center in B Joseph Brozinick with Eli Lilly and C and Bruce Kemp of the St. Vincent's Institute in Australia.
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Dartmouth researchers identify a gene that enhances muscle performance达特茅斯科学家鉴定出能提升肌肉性能的基因
The researchers report that the enzyme called AMP-activated protein kinase (or AMPK) is directly involved in optimizing muscle activity. The team bred a mouse that genetically expressed AMPK in an activated state. Like a trained athlete, this mouse enjoyed increased capacity to exercise, manifested by its ability to run three times longer than a normal mouse before exhaustion. One particularly striking feature of the finding was the accumulation of muscle glycogen, the stored form of carbohydrates, a condition that many athletes seek by "carbo-loading" before an event or game. The study appears in the Nov. 14 online issue of the American Journal of Physiology: Endocrinology and Metabolism.研究人员报道这种叫做AMP-活化蛋白激酶（或AMPK）的酶可直接参与优化肌肉活动性。该研究组养殖了一种可遗传性的表达活化状态的AMPK的小鼠。像一个训练有素的运动员，这种小鼠拥有更高的运动能力，这表现为它能比普通小鼠在精疲力尽前多跑三倍远的距离。该发现的一个特别显著的征象是肌糖原的储积，这是一种碳水化合物的储备形式，正是许多运动员在运动和比赛前通过“碳水补充”所追求的状态。该研究发表在美国生理学杂志：内分泌和代谢11月14日网络版上。"Our genetically altered mouse appears to have already been an exercise program," says Lee Witters, theEugene W. Leonard 1921 Professor of Medicine and Biochemistry at Dartmouth Medical School and professor of biological sciences at Dartmouth College. "In other words, without a prior exercise regimen, the mouse developed many of the muscle features that would only be observed after a period of exercise training."“我们的遗传变异的小鼠似乎已经拥有了一个运动计划，” 达特茅斯医学院医学与生物化学教授、达特茅斯学院生命科学教授Lee Witters，Eugene W. Leonard 1921。”换句话说，在没有提前进行运动疗法情况下，这种小鼠出现了许多只有在经过一段运动训练后才能发现的肌肉特征。”Witters, whose lab led the study, explains that this finding has implication for anyone with a muscle disease and especially for the growing proportion of the population that is aging. Deteriorating muscles often make the elderly much more prone to fall, leading to hip and other fractures. According to Witters, there is tremendous interest in the geriatric field to find ways to improve muscle performance. 领导该研究的Witters解释道，这个发祥可应用于任何有肌肉疾病的患者，尤其是用于增加老年人的肌肉比率。退化的肌肉常使中老年人容易摔倒，而导致髋部和其他部位骨折。据Witters说，如何找出提高肌肉性能的方法在老年病领域很受关注。"We now wonder if it's possible to achieve elements of muscular fitness without having to exercise, which in turn, raises many questions about possible modes of exercise performance enhancement, including the development of drugs that could do the same thing as we have done genetically," he says. "This also might raise to some the specter of 'gene doping,' something seriously being talked about in the future of high-performance athletes."“我们现在想知道是否能不通过运动而达到肌元的顺应性，随之而来的许多问题将是关于如何提高运动性能，包括开发药物来完成我们通过遗传方法所做的。”他说，“这也可能在某种意义唤起‘基因兴奋剂’这个幽灵，那将是优异的远动员未来需要严肃讨论的问题。”Witters says that the carbohydrate, glucose, is a major fuel that powers muscles, and this contributes directly to a muscle's ability to repetitively contract during exercise. The activated AMPK in the Dartmouth mouse appears to have increased glycogen content by actually switching on a gene that normally synthesizes liver glycogen. Witters说碳水化合物，葡萄糖，是驱动肌肉的主要燃料，而且这直接促使肌肉在运动中反复收缩。达特茅斯小鼠体内活化的AMPK增加了糖原的含量，这实际是由于打开了原本合成肝糖原的基因开关。"The switching on of this liver gene in muscles," he says, "is a shift in the conception of the biochemistry of muscle metabolism, since many enzyme genes are thought to only be active in just one tissue."“在肌肉中开启这个肝脏基因，”他说，“是肌肉生物代谢概念的一个转变，因为许多酶基因都被认为是只在一种组织中激活。”Other authors on the paper include Laura Barré, Christine Richardson, and Steven Fiering, all at D Michael Hirshman and Laurie Goodyear of Joslin Diabetes Center in B Joseph Brozinick with Eli Lilly and C and Bruce Kemp of the St. Vincent's Institute in Australia.这篇文章的其他作者有Laura Barré、Christine Richardson和Steven Fiering，达特茅斯；Michael Hirshman和Laurie Goodyear，加斯林糖尿病中心，波士顿；Joseph Brozinick，礼来公司；Bruce Kemp，澳大利亚圣.文森特研究所。
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