w******y
发帖数: 4871 | 1 NOVEL THERAPIES
Gene therapy — The identification of the gene responsible for the
dystrophinopathies led to initial excitement that transfer of a functioning
dystrophin protein (whether by transplanted myoblast or direct genetic
manipulation) may provide substantial benefit to or even "cure" affected
patients. Although myoblast transfer has been attempted in humans, the
results have thus far not been encouraging [47]. However, in one patient who
received a bone marrow transplant for severe combi... 阅读全帖 |
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s***o
发帖数: 714 | 2 国内6岁侄儿检查出来44号基因缺失，DMD (Duchenne Muscular Dystrophy) 杜兴氏肌
肉营养不良症。
请问版上有没有做这方面研究或者是了解这个病的，能不能给点建议？不胜感激！谢谢
！！ |
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o********7
发帖数: 409 | 3 【 以下文字转载自 Medicine 讨论区 】
发信人: office2007 (2007), 信区: Medicine
标 题: 有人知道进行性肌营养不良，也叫Duchenne型DMD吗？
发信站: BBS 未名空间站 (Sat Jul 9 21:54:54 2011, 美东)
国内的小外甥很不幸的了这种病，据说没有什么特效治疗方法，不知道美国这边有没有
什么新的研究成果和疗法阿？谢谢 |
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S*****s
发帖数: 287 | 4 这个是遗传病，只能改进病人的生活质量而不能治愈。你外甥已经确诊是 Duchenne 么
？我非常希望他不是这一种，因为几种 Muscular dystrophy 里面这种最严重。希望他
能有一个幸福快乐的童年。 |
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c*********7
发帖数: 32 | 6 一朋友的一岁多小孩发现有这个假肥大性肌营养不良遗传性疾病, 国内俗称"软骨病".
不知道这种病在
美国有什么什么良方治疗? 用什么样的药, 可能在美国买吗? 小孩才一岁多,最近才发
现有问题. 挺可
怜的. 非常感谢. |
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c*********7
发帖数: 32 | 7 多谢. That's really sad. Can it be prevented during the pregnancy test?
So you mean there is no clinical treatment? |
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l*****e
发帖数: 261 | 8 谢谢您的指导，我在网上找到的，没想到肌影响不良是这么严重的病
Duchenne 肌营养不良又称假肥大型肌营养不良、杜氏肌营养不良，为X连锁隐性遗传的
疾病。年发病率约为每3500个活产男婴中有1个。致病基因DMD位于Xp21，男性发病，女
性为致病基因携带者。DMD患儿一般3~5岁出现肌无力症状，病情进行性加重，大约12岁
左右失去独立行走能力，20岁左右由于肌无力、呼吸衰竭而死亡。Becker肌营养不良也
是由DMD基因缺陷所导致的，临床症状出现较Duchenne 肌营养不良晚，进展相对慢，18
岁后都还能独立行走，多可存活至成年40~50岁甚至更长寿命。
希望小宝宝只是发炎或者感冒引起的异常，不是这个病
biopsy |
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e****0
发帖数: 678 | 9 • leukemia
ALL AML CLL
child adult elderly
BM lymphoblasts 25%myeloblasts
lab Lymphocyte 5000, mature-appearing cells
• Osgood-schlatters disease
Adolescent male athletes
Traction apophysitis—quadriceps tendon put the traction on the
apophysis of the tibial tubercle where patellar tendon inserts.
A firm mass =heterotopic bone formation
Pain can be reproduced by extending the kne... 阅读全帖 |
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q********g
发帖数: 10694 | 10 观点很象这里Jenny12以前说的。从中也学习到一些分析医药股的方法。例文欣赏。
http://seekingalpha.com/article/895051-sarepta-therapeutics-loo
Sarepta Therapeutics Looks Highly Undervalued
September 28, 2012 | 37 commentsby: Sean Anderson | about: SRPT
R.S. Analytics wrote up the long case for Sarepta Therapeutics (SRPT)
earlier this month here. I agree with that thesis, and won't bore everyone
by repeating it here since R.S. did such a great job telling it already.
There are, however, a few points that I'd like to expand on.
In ... 阅读全帖 |
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c***s
发帖数: 70028 | 11 李淑香搀扶着沈才伟。
上学，对于自贡荣县金花镇的9岁的沈才伟来说有些艰难。3年前，沈才伟被查出患进行性肌营养不良症，让他从此无法像正常人行走，甚至被人碰倒后就无法自行站立起来。为了让沈才伟能到学校求学，从小照顾他的奶奶李淑香每天背着他到学校读书，这一背就是3年多......
“我想读书，但是现在身体不好，希望能早点好起来。”沈才伟说，他还有很多梦想等着他去实现，“我想学医，将来帮助更多的人。”
【患】怪病全身肌无力 上学艰难
沈才伟的父母在外地务工，爷爷也在外地打工，沈才伟从小就由奶奶李淑香照顾。6岁时沈才伟到了读小学的年纪，于是李淑香将他送到离家20多里路的荣县新桥小学读书。这条路沈才伟走得很艰难，因为他患上了进行性肌营养不良症，该病让他从此无法像正常人行走，甚至被人碰倒后就无法自行站立起来。
李淑香介绍，沈才伟从小就和同龄孩子身体有差异，但这并没让沈才伟父母重视。直到沈才伟5岁后差异越来越明显。“6岁时去医院检查才知患进行性肌营养不良症。”李淑香说，发现患“怪病”后便四处求医，可得到的答复都让人失望：无法治疗。
【背】你走三年上学路 风雨无阻
患病后，沈才伟正常走路都很困难，更不用... 阅读全帖 |
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b*****d
发帖数: 61690 | 12 http://stm.sciencemag.org/content/8/331/331ed3
Funding unfunded NIH research applications
The Biomedical Research Funding Enterprise Provides The Infrastructure that
leads to new medical products that impact global health. Throughout history,
the long and successful tradition in the United States of investing in
biomedical research involves funding support by government, nonprofit
biomedical foundations, pharmaceutical and biotechnology companies, and
other private funds. However, even with the ... 阅读全帖 |
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w*****g
发帖数: 103 | 13 查一下是否是 Duchenne Muscular Dystrophy (DMD)？ |
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l*******x
发帖数: 14 | 14 我一个国内朋友请我帮忙，可是我什么医学不懂，请明白的同学一定指个方向啊。这是
他们的信：
我儿子在上海新华医院和北京协和医院初步诊断为进行性肌营养不良中最常见的一种类
型——杜兴氏型（简称DMD），进行性肌营养不良（progressive muscular dystrophy,
PMD）是一组原发于肌肉的遗传性变性疾病，有很多种类型，其中最常见的类型有1、杜
兴氏型（Duchenne）简称DMD，2、贝克氏型（Becker）简称BMD，这两种类型都属于X连
锁隐性遗传性肌营养不良症。杜兴氏型肌营养不良症是X染色体上的DMD基因突变，导致
缺乏抗肌萎缩蛋白（dystrophin）引起的，DMD基因突变包括79对外显子缺失、重复、
点突变。
我儿子现刚5周岁，从症状上看可能是杜兴氏型（DMD），现状况为：腓肠肌（小腿肚子
）有点大；上楼吃力要扶栏；易摔倒；蹲下起来吃力；仰卧不能直接起来，要先翻身俯
卧才能起来；跑步慢等症状。
做过的检查有1、肌电图，结果为肌源性损害不能排除；2、心肌酶谱，肌酸激酶高3600
（参考范围22-270IU/L）；3、在北京协和基础研究院做了DMD基因的79对外 |
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f******I
发帖数: 769 | 15
dystrophy,
duchenne muscular dystrophy has very poor prognosis, most die in their teens
,
i'm sure mayo clinic would have the ability to test that and almost
everything else, |
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g*****j
发帖数: 1211 | 16 Can that be some type of congenital muscle dystrophy?
Duchenne muscle dystrophy
Becker's muscle dystrophy
Myotonic dystrophy (less likely, late onset and positive family History)
Has he had a muscle biopsy? |
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o********7
发帖数: 409 | 17 国内的小外甥很不幸的了这种病，据说没有什么特效治疗方法，不知道美国这边有没有
什么新的研究成果和疗法阿？谢谢 |
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t*******n
发帖数: 4445 | 18 很遗憾的说还是绝症，预期寿命10－20几岁
近年验证有用的，主要是提早辅助治疗
这个组织是一个患儿妈妈发起的，他们推动了不少研究活动：
www.parentprojectmd.org |
|
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t*******n
发帖数: 4445 | 20 Duchenne muscular dystrophy? |
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d***1
发帖数: 90 | 21 是非被确诊为BMD（Becker's muscular dystrophy） 或DMD（Duchenne Muscular
Dystrophy）。BMD相对良性一点。这个小孩多少岁，如果已经10来岁，可能是良性的。
如果小于4，5岁就经常性跌倒且大小腿增粗，有可能是恶性。建议查血碱性磷酸酶。by
the way，我有一个中药配方可缓解之。email to w*****[email protected]. |
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l*h
发帖数: 4124 | 22 is this a boy? if yes, with the CK pattern, I would first suspect Duchenne
muscular dystrophy. |
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l*h
发帖数: 4124 | 23 he will need EMG (including repetitive nerve stimulation and conduction
velocity). EMG will tell pretty well what group of diseases he has.
Definitive diagnosis can usually be achieved by muscle biopsy. Nerve biopsy
is unnecessary with this kind of presentation.
standard EMG uses fine needle electrodes. in small children, this requires
right level of sedation plus quite some experience.
if this is not possible, there is surface EMG which is non-invasive but
gathers less information.
if he has ea... 阅读全帖 |
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l*h
发帖数: 4124 | 26 current recommendation is to maintain moderate physical activity. don't do
intense exercise. intense exercise may cause more muscle fibers to die
early. "应该尽量少运动" is not good either. it causes loss of muscle
functions due to disuse.
I don't know about "好像是说睡觉时戴类似护膝的东西，会有好处？" |
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t*******n
发帖数: 4445 | 27 Supportive care is important for most illnesses, and for life in general.
For DMD there are advancements in recent years.
Once I came across a profile article on Pat Furlong, founder of http://www.parentprojectmd.org What she did was impressive (much more than ribbons, bake sales and demanding a cure). |
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l*h
发帖数: 4124 | 28 distrophin was identified quite some time ago. gene therapy has been under
study for some time too. one of the gene therapy studies was successful in a
variety of animals including monkeys, but the vector was not able to infect
the human cells. |
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t*c
发帖数: 6929 | 31 看看是不是Duchenne Muscular Dystrophy，
D M D。正躺头晕可能和颈部肌肉先受损有关，但最好
叫医生再做详细检查。 |
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l****z
发帖数: 24 | 32 Big bless! mm要坚强，这个病治好还是有希望的！现在干细胞治疗肌肉萎缩症已有先
例，主要是对发病率最高的DMD（Duchenne muscular dystrophy，DMD）。虽然变异基
因不同，但用干细胞治疗的方法应该很类似。如果宝宝保留了脐带血，可能将来爸爸就
能用上了。如果没有，脐血干细胞排异反应比较小的，别的脐血也能用。现在大部分宝
宝出生要么保存脐血，要么捐赠。如果将来宝宝爸爸治疗需要脐血干细胞，到这儿来振
臂一呼，说不定宝宝版上的jm们真能帮上忙（不知道可不可以定向捐赠）。 |
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w******y
发帖数: 4871 | 33 看医生，顺便排除没有duchenne syndrome. (俺可能单词拼写有错误） |
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a*****r
发帖数: 87 | 34 你说的这个是Duchenne Muscular Dystrophy (DMD)你可以google看看 |
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c***x
发帖数: 57 | 35 could be Erb-Duchenne or Dejerine-Klumpke palsy? nerve injury at birth |
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w******y
发帖数: 4871 | 36 儿医那里查过duchenne muscular dystrophy吧？ |
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w******y
发帖数: 4871 | 37 儿医那里查过duchenne muscular dystrophy吧？ |
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T*C
发帖数: 5492 | 38 Sarepta Therapeutics (SRPT) +119.4% premarket after announcing its exon-
skipping compound eteplirsen achieved a significant clinical benefit after a
36-week PhaseIIb study in the treatment of Duchenne muscular dystrophy
patients. |
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s*****i
发帖数: 315 | 39 GSK and Prosensa Announce Primary Endpoint Not Met in Phase III Study of
Drisapersen in Patients With Duchenne Muscular Dystrophy |
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b*****p
发帖数: 9649 | 40 FDA tells Sarepta new drug filing for eteplirsen 'premature'
Sarepta provided an update on its discussions with the FDA regarding its
planned New Drug Application submission and confirmatory clinical study with
eteplirsen for the treatment of Duchenne muscular dystrophy. Citing recent
developments since Sarepta's last meeting with the agency, including a
failed study with a competitive product and recent natural history data in
DMD, the FDA indicated the new data raise "considerable doubt" about... 阅读全帖 |
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V**********1
发帖数: 24381 | 41 Duchenne type，Becker type哪一种？这是男孩比较常见的；或是Facio-scapulo-
humeral type还是Myotonia dystrophica还是Limb girdle type？
目前只有复建和支架疗法最有效，Relatively；细胞治疗法的话你只有试试Standford
了，我只知道这些。 |
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W********s
发帖数: 2256 | 42 http://www.saturdaydownsouth.com/2011/uncensored-play-by-play-r
We’ll it’s been 3 weeks since his retirement and Urban Meyer must already
be sick of his wife and kids. Welcome to the real world, Urban.
There is a moment of sheer panic as Auburn fans see Nick Saban on the
Gameday set. (In the postgame, Saban accidently referred to Oregon as “We
”, before correcting himself.)
Alcohol will be a factor in this game. Bowl games allow drinking in the
stadium, so it will be critical to see how the t... 阅读全帖 |
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w**********9
发帖数: 242 | 43 There is a girl of seven years old, with a progressive muscle weakness and
is diagnosed with Duchenne muscular dystrophy. She has a normal identical
twin sister and another brother with no problems. What is the reason her
identical twin sister does not have the disease ?
A), parental imprinting
B), Screwed X inactivation
C), Trinucleatide repeat
D), Genetical anticipation
E), Variable expression
which one is the reason? Or anybody could give better answer to this
question.
thanks. |
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l**********1
发帖数: 5204 | 44 NB: only Bio/Medic Branch:
please go to
//cdmrp.army.mil/search.aspx
Search Fiscal Year: 1993-2011:
or
//cdmrp.army.mil/funding/default.shtml
Funding Opportunities:
Amyotrophic Lateral Sclerosis
Autism
Bone Marrow Failure
Breast Cancer
Duchenne Muscular Dystrophy
Gulf War Illness
Lung Cancer
Multiple Sclerosis
Ovarian Cancer
Peer Reviewed Cancer
Peer Reviewed Medical
Peer Reviewed Orthopaedic
Prostate Cancer
Spinal Cord Injury |
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y***r
发帖数: 14 | 45 我的研究有些尴尬，我们有一个肌肉萎缩老鼠模型 (duchenne)，却发现肌肉有大量钙
化.我发现相对正常老鼠，某蛋白 A 大量激活，并特异在钙化的区域。病鼠的肌肉干细
胞内A蛋白也激活,抑制A 后发现干细胞osteogenesis减弱,myogenesis 增强.
而体内用小分子抑制A后,肌肉钙化大量减少,肌肉再生加强.
我觉得结果很新,对肌肉钙化的研究挺有意义.
试着发journal of clinical investigation, 说我 duchenee muscle dystrophy 病人
没有肌肉钙化,所以我的结果没有clinical relevance..., 3天给据了.
发 journal of cell biology, 说我没有fundamental mechanism, 也3天据了....
请教大概8-10来分的journal, 有什么journal 会容易考虑我这种文章?
谢了.... |
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d*****r
发帖数: 2583 | 46 RNA一大早跌了80%..
http://www.businessweek.com/news/2013-09-20/prosensa-shares-plu
Bloomberg News
Prosensa Shares Plunge as Muscular Dystrophy Drug Fails in Trial
By Makiko Kitamura September 20, 2013
Prosensa Holding NV (RNA:US) plunged after the Dutch company’s experimental
muscular dystrophy drug failed to help patients walk better in a clinical
trial.
Prosensa sank 71 percent to $7 at 7:55 a.m. New York time in trading (RNA:US
) before U.S. exchanges opened. The company is based in Leiden, the
Ne... 阅读全帖 |
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x**4
发帖数: 112 | 47 http://www.ncbi.nlm.nih.gov/pubmed/24308293
New developments in the use of gene therapy to treat Duchenne muscular
dystrophy.
Jarmin S1, Kymalainen H, Popplewell L, Dickson G.
Expert Opin Biol Ther. 2014 Feb;14(2):209-30. doi: 10.1517/14712598.2014.
866087. Epub 2013 Dec 6.
Thanks |
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b*****d
发帖数: 61690 | 48 【 以下文字转载自 Faculty 讨论区 】
发信人: brihand (brihand), 信区: Faculty
标 题: NIH要和foundation合作资助unfunded proposal
发信站: BBS 未名空间站 (Fri Jun 17 13:20:56 2016, 美东)
http://stm.sciencemag.org/content/8/331/331ed3
Funding unfunded NIH research applications
The Biomedical Research Funding Enterprise Provides The Infrastructure that
leads to new medical products that impact global health. Throughout history,
the long and successful tradition in the United States of investing in
biomedical research involves funding ... 阅读全帖 |
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c********n
发帖数: 225 | 49 【记录历史】谁重复验证了NgAgo？
项目 结题
date： 2017年8月2日
updated: 2017年8月4日
Note2017080401: added a few notable reviews/summaries
---------------------------------------
- NBT retraction note：
http://www.nature.com/nbt/journal/v34/n7/full/nbt.3547.html#correction2
原文引用
“Retracted online 02 August 2017
We are retracting our study because of the continued inability of the
research community to replicate the key results in Figure 4, using the
protocols provided in our paper. In this figure we report that the
Natro... 阅读全帖 |
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