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全部话题 - 话题: dystrophy
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G*8
发帖数: 13261
1
来自主题: PennySaver版 - [bssd] sfw 8/4-8/10
MDA: muscular dystrophy association
它们的胖子也登在cf上,店里的胖子本有一些不同或添加的,今天在safeway cs
counter拿到的。
左边girl的图就是胖子本封面:
http://www.mda.org/
j****l
发帖数: 1710
2
楼主写了啊,虽然没找到
COPY:
MDA 胖子本普及:
---------------------
MDA: muscular dystrophy association
它们的胖子也登在cf上,店里的胖子本大部分和cf相同或有一些添加的,所以这个胖子
本很重要,结合cf eq,有很多好的或倒赚的deals。我在safeway cs counter拿到的。
左边girl的图就是胖子本封面:
http://www.mda.org/
T*C
发帖数: 5492
3
来自主题: Stock版 - SRPT
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.
s*****i
发帖数: 315
4
来自主题: Stock版 - RNA drops 80%
GSK and Prosensa Announce Primary Endpoint Not Met in Phase III Study of
Drisapersen in Patients With Duchenne Muscular Dystrophy
b*****p
发帖数: 9649
5
来自主题: Stock版 - SRPT - big drop in pre market
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
b****r
发帖数: 252
6
在生物版找review?原来你是学生物医学的?传说中又老又穷的生物猥琐男?你们博士
猴不都走eb1了吗?你论文不够只能走eb23?你们博士猴最近工资平均值突破4万一年的
大关了吗?你们能买得起房子能娶得起老婆吗?你们整天被mitbbs各种鄙视请问有什么
感想?

发信人: tino2008 (龙文章), 信区: Biology
标 题: 求一篇文章,没招了
发信站: BBS 未名空间站 (Sun Apr 7 00:48:45 2013, 美东)
最近一直在找一篇REVIEW,学校查不到,通信作者不理.特来求助,谢谢了.
The genetics of Fuchs’ corneal dystrophy
Benjamin W Iliff, S Amer Riazuddin, and John D Gottsch
Expert Review of Ophthalmology, August 2012, Vol. 7, No. 4 , Pages 363-375
(doi: 10.1586/eop.12.39)
邮箱:l*******[email protected]
G****r
发帖数: 3023
7
赞一个,盖圣果然心宽人善!
b********9
发帖数: 1061
8
why 100? not more?
a*****r
发帖数: 54
9
这个看来是最好的信息中心了,the International Spinal Muscular Atrophy
Patient Registry (the Registry):This project is supported by the Patient
Advisory Group of the International Coordinating Committee for SMA Clinical
Trials which includes Families of SMA, FightSMA, the Muscular Dystrophy
Association, and the Spinal Muscular Atrophy Foundation, and other SMA
advocacy groups.
https://smaregistry.iu.edu/index.asp
请你们在这个registry注册,了解一下最新的研究进展想想办法。
Bless!
c**i
发帖数: 6973
10
(1) Sorry, (originally from Taiwan but having lived in US for a quarter
century) I simply have no faith in medicine of China. (Read my previous
postings in this board.) So I am skeptical about the diagnosis. Are the
doctors there competent to make the diagnosis? It is not easy: the family (
including you)--and possibly the doctors there--probably do not know what
subtype of spinal muscular atrophy* (type 1 or 2?) or what gene goes wrong (
SMN** or some other genes). It is important to know this... 阅读全帖
j*****I
发帖数: 2626
11
差不多,真要弯下来的时候不觉得疼,就是动唤的时候觉得疼。 而且不是关节里面疼,
好像是关节外面的韧带. 查了下医学手册,有这么几种:
#1 muscle strains and tears
#2 tendon inflammation
#3 tendon tears
#4 muscular dystrophy
#5 myasthenia gravis
第二种最象,inflammation involving tendons may affect the tendon itself (
tendinitis) or the inner lining of fibrous sheaths that enclose some tendons
(tenosynovitis). Tendinitis may occur when strong or repeated movement
creates excessive friction between the tendon's outer surface and an
adjacent bone. Tenosynovitis may be ca
s*******g
发帖数: 3332
12
Coenzyme Q10 (CoQ10) is produced by the human body and is necessary for the
basic functioning of cells. CoQ10 levels are reported to decrease with age
and to be low in patients with some chronic diseases such as heart
conditions, muscular dystrophies, Parkinson's disease, cancer, diabetes, and
HIV/AIDS. Some prescription drugs may also lower CoQ10 levels.
Levels of CoQ10 in the body can be increased by taking CoQ10 supplements,
although it is not clear that replacing "low CoQ10" is beneficial.
C
D*******a
发帖数: 1723
13
来自主题: WaterWorld版 - 打中医黑的脸 (针灸篇)
http://apps.who.int/medicinedocs/en/d/Js4926e/5.html
Acupuncture: Review and Analysis of Reports on Controlled Clinical Trials

3. Diseases and disorders that can be treated with acupuncture
The diseases or disorders for which acupuncture therapy has been tested in
controlled clinical trials reported in the recent literature can be
classified into four categories as shown below.
1. Diseases, symptoms or conditions for which acupuncture has been proved-
through controlled trials-to be an effec... 阅读全帖
C*****h
发帖数: 926
14
Small oilgos 还是可以直接进入细胞的,并且可能用来治病。
下面是两篇Nature文章,很有前途的。
(说明一下,这个纯粹学术交流,与方舟子打假无关。)
Peripheral SMN restoration is essential for long-term rescue of a severe
spinal muscular atrophy mouse model
Yimin Hua et al., 2011. Nature (478) 123-126
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama
muscular dystrophy
Mariko Taniguchi-Ikeda et al., 2011. Nature (478) 127-131
T******e
发帖数: 18290
15
我估计在美国肯定难通过。
★★★★ ★★★★ ★★★★
“一爸两妈”宝宝有望降生英国
Paradoxian 发表于 2014-07-31 18:18
更新:2015年2月4日,英国下议院以382票对128票的大比分优势,通过了相关修正案。
程序上讲法案还需经上议院批准,但否决可能性极小。由此,英国基本确定成为第一个
允许体外人工受精中使用线粒体捐献的国家。
在英国,大约每6500个新生儿中就有一个患有严重的线粒体病,包括一些类型的肌营养
不良(muscular dystrophy)、莱伯遗传性视神经病变(Leber hereditary optic
neuropathy)和莱氏综合征(Leigh syndrome)等。在咨询了公众意见和进行安全性及
有效性评估后,政府做出决定:英国政府将出台方案,允许在体外人工授精(in vitro
fertilization, IVF)过程中进行线粒体捐献,用来自健康女性的线粒体置换掉有缺
陷的线粒体,使这些孩子能够避免患上线粒体疾病。
线粒体DNA是完全通过母系家族遗传的,只能从妈妈遗传给孩子,患有线粒体病的女性
会将有缺陷的线粒体遗传给宝宝。要... 阅读全帖
t*****e
发帖数: 135
16
LET’S HELP GET THESE KIDS OUT OF BED AND ON THEIR FEET!
****A NEW FOX SCHOOL CHARITABLE INITIATIVE****
Where: Chongqing (“CQ”) Children’s Home, in Chongqing City, China.
Surrounded by Sichuan Province, land of the Panda!
Who: Almost 100 disabled children who are mostly confined to bed, due to
conditions such as cerebral palsy, muscular dystrophy, and other
neuromuscular disorders.
Why (and some background): Through the Chinese Children’s Charity fund, we
can purchase equipment that can help th
M****e
发帖数: 70
17
来自主题: Biology版 - Mouse vs. Human
why mouse? mouse models have been used to understand the functions
of the orthologous human genes extensively. clinical investigations
of genes that are related to various diseases have been facilitated
using transgenic mice, such as studies on cystic fibrosis,
myotony dystrophy, obesity, diabetes mellitus. the recent publication
on Science 296:1661, "a comparison of whole-genome shotgun-
derived mouse chromosome 16 and the human genome", has highlighen
the homology shared between these two spec
l*****c
发帖数: 17
18
今天science发表的文章
A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
http://www.sciencemag.org/cgi/content/abstract/science.1189044
被评价的很高啊,见NYM的
http://www.nytimes.com/2010/08/20/science/20gene.html?_r=1&hp
尽管机理不清楚,但是还是一个重要的观察吧。
w**********9
发帖数: 242
19
来自主题: Biology版 - Why This Identical Twins Has No Disease?
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.
n********k
发帖数: 2818
20
What an AMAZING woman! seriously!! I vote her to be a next Nobel laureate
and a first Chinese and it is a girl too....
http://english.cas.cn/accessory/twows4th/twowsaward/201006/t20100627_55793.html
Professor Fanyi Zeng was born in 1968. She received her B.A. in University
of California San Diego, CA, USA in 1991. In 2005, she got her Ph.D in
University of Pennsylvania, PA, USA.
Professor Zeng has led a research team that has made substantial and long-
lasting contributions to the developmental ... 阅读全帖
C***H
发帖数: 508
21
来自主题: Biology版 - 问个K99的小白问题
新手上路,在NIH看了看,发现今年的K99怎么是:
NIH Pathway to Independence Award in Muscular Dystrophy Research (K99/R00)
是因为新的K99还没有出来还是今年的就是这个了?或者是那个PA-10-063每年新人可以申请?
h******y
发帖数: 351
22
second that.
这篇文章的发现固然有意思,但是能发在nature上也有赶潮流(反潮流)的因素在里面
。这篇文章的意义在于提醒人们不能忽视移植受体对iPS细胞可能存在的免疫排斥,但
是由此就把iPS一棒子打死也不免言过其实。
对于iPS细胞能否用于及时有效的器官移植,大家一直有争论。免疫排斥不论,另一个
很大的问题是及时性。毕竟很难想象在急需移植器官的时候,病人能够等待至少6个月
以上的时间,以便从体细胞开始reprogramming并生产出数亿个特定的功能细胞(器官
移植需要末端分化的细胞,否则有致癌的危险)。一个解决办法是利用胚胎干细胞,进
行所谓的预生产,这也是目前进入临床试验的两个项目(Geron的脊髓损伤和ACT的
Macular dystrophy)都利用胚胎干细胞的原因。
另一个解决办法是建立iPS Bank,在目前无法建立新的ESC系的情况下,建立尽可能多
的iPS系,理想状况是囊括所有人群。很多大的医药公司也希望建立这样的iPS bank,
原因下面详述。根据小道消息,CDI目前拿到一个建立250个iPS系的contract。这只是
开始,后面应该还有更大的。... 阅读全帖
s*******t
发帖数: 7746
23
来自主题: Biology版 - Dance your PhD
antisense therapy for Muscular Dystrophy
http://www.youtube.com/watch?feature=player_embedded&v=nCww2IhK
l**********1
发帖数: 5204
24
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
l**********1
发帖数: 5204
25
来自主题: Biology版 - 写给Nature主编的抗议信
预先打了伏笔了哈 Wo Kao Nature News
Performance enhancement: Superhuman athletes
Enhancements such as doping are illegal in sport — but if all restrictions
were lifted, science could push human performance to new extremes.
Helen Thompson
18 July 2012
Code breaking
Gene doping — enhancing performance by adding or modifying genes — has
been the subject of locker-room gossip for the past ten years. There are
plenty of natural mutations for which to wish. The Finnish cross-country
skier Eero Mäntyrant... 阅读全帖
l**********1
发帖数: 5204
26
BGI or others just try
NGS with both blood samples Ye Shiwen and Katie Ledecky
plus below six athletes total 8 athletes
performance profiling”方法,将所有国际上
有名的现役游泳运动员的比赛成绩,进行profiling分析,发现最高分排名(也就是最
“anomalous”的排名)是:
1. Elizabeth Beisel
2. Michael Phelps
3. Rebecca Adlington
4. Ian Thorpe
5. Stephanie Rice
6. Allison Schmitt
while can find proof of her EPOR mutation which is identical to Finnish
cross-country skier Eero Mäntyranta
and also is different to former matchs any DNA samples Ge... 阅读全帖
t******8
发帖数: 1529
27
来自主题: Biology版 - 求一篇文章,没招了
最近一直在找一篇REVIEW,学校查不到,通信作者不理.特来求助,谢谢了.
The genetics of Fuchs’ corneal dystrophy
Benjamin W Iliff, S Amer Riazuddin, and John D Gottsch
Expert Review of Ophthalmology, August 2012, Vol. 7, No. 4 , Pages 363-375
(doi: 10.1586/eop.12.39)
邮箱:l*******[email protected]
y***r
发帖数: 14
28
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....
x**4
发帖数: 112
29
来自主题: Biology版 - paper help
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
c********n
发帖数: 225
30
【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
n**********g
发帖数: 196
n**********g
发帖数: 196
32
来自主题: Biology版 - 我来给genome editing泼瓢冷水
我有印象的一案例
http://www.sciencemag.org/news/2015/12/crispr-helps-heal-mice-muscular-dystrophy
我看好它的商业前景(前提是解决accuracy的问题)。
比如,孟德尔遗传性疾病,根治HIV,改造各种经济物种(小公司足以承担成本,比如
华大改造过的宠物猪--当然这个不是CRISPR做的)
即使CRISPR成熟了,生物学家也无法收获桃子,总是药物公司、医院摘桃。
n**********g
发帖数: 196
33
来自主题: Biology版 - 我来给genome editing泼瓢冷水
“充分了解复杂事物内部工作逻辑,然后在了解的基础之上修改,才能没有副作用。”
--存在人类完全了解的东西?任何新事物都存在“未知风险”,所以我说你这是未知
轮,按照这个逻辑,不能允许任何新事物。
但是你的这句话“只有万不得已,才去做这种高风险的事情”部分是对的,如果一个新
疗法的效果远超风险,那么就是可以用的,比如这个muscular dystrophy, 稍微有些疗
效就好过早夭,即使有很大风险。
n**********g
发帖数: 196
34
来自主题: Biology版 - 我来给genome editing泼瓢冷水
是吗?排除了“未知风险”?你怎么知道有哪些“未知”风险?
你说飞机,立即给你举一个例子说明“未知”风险造成的事故--巴西到法国失事的飞
机 法航447
另外你逻辑的错误之处在于,你认定99.99%安全性就可以做某事(即使有未知风险),
但是却认定人类对于muscular dystrophy的未知不能对其进行改造,你的数据怎么得来
的,凭空想的?
x******n
发帖数: 14
35
来自主题: Chemistry版 - Disney at Scripps Florida
在Scripps, FL做博后,早听说Chemistry Department有个叫Disney的老板很疯狂,最
近他们组有个白人干了5个月博后就quit了,然后就流出一封他写给这边博后协会主席
的信。转过来或许对想来这里做博后的人有所警戒。信很长,慎入:
Alex tells me that as the head of the SRF, you would like to hear about why
I decided to quit the Disney lab. I would be happy to. I started here in the
beginning of November, meaning I have been here for five months. In that
time I found Dr. Disney so difficult to work with I felt that I was forced
to quit.
Everyone in the lab is miserable. They all hate him, but the ... 阅读全帖
c*******y
发帖数: 4
36
我一近亲最近确诊患有Reflex Sympathetic Dystrophy.请问应该针灸哪些穴位来减少
疼痛和让神经恢复正常工作?哪些针最常用?请问在哪买针灸常用的针?谢谢大家!
l********y
发帖数: 2295
37
for step1:
trinucleotide repeat expansion diseases:
My Ex is Hungry on Fri.
My (大家都Call Tall Girl, CTG)=Myotonic dystrophy
Ex (比较肉麻的Call Ge Ge, CGG)=fragile X syndrome
Hungry (点了个鸡蛋Call An Egg, CAG)=Huntington's disease
Fri (大家AA制的,Go AA, GAA)=Friedreich's ataxia
呵呵,编口诀的好处就是记得忒牢,到现在随便什么人问我哪个病是哪个repeat,我随
口就答,人家还以为我学的多好呢,呵呵。
l********y
发帖数: 2295
38
来自主题: MedicalCareer版 - steps学习的口诀 (转载)
【 以下文字转载自 Pre_Resident_Club 俱乐部 】
发信人: lovelypony (lovelypony), 信区: Pre_Resident_Club
标 题: steps学习的口诀
发信站: BBS 未名空间站 (Fri Oct 22 21:56:46 2010, 美东)
响应老刀的号召,冒个小泡。有很多难记的东西,编过一些口诀,先贡献一个,回头有
空了再慢慢添。大家有好的口诀也都来分享,这样大家都省时省力。
先贡献一个pony比较经典的口诀,认识pony的都会的,呵呵。
for step1:
trinucleotide repeat expansion diseases:
My Ex is Hungry on Fri.
My (大家都Call Tall Girl, CTG)=Myotonic dystrophy
Ex (比较肉麻的Call Ge Ge, CGG)=fragile X syndrome
Hungry (点了个鸡蛋Call An Egg, CAG)=Huntington's disease
Fri (大家AA制的,Go AA, GAA)=Fried... 阅读全帖
c******n
发帖数: 492
39
15. A previously healthy 67-year-old man comes to
the physician because of a 4-month history of hand weakness,
intermittent tingling of the small fingers of his hands, and mild neck pain.
Examination shows wasting, weakness, and fasciculations of the
interossei muscles. Sensation is decreased to pinprick and vibration in the
small fingers of each hand. Triceps tendon reflexes are decreased. Which of
the following is the most likely diagnosis?
A
) Amyotrophic lateral sclerosis
B
) Cervical spondy... 阅读全帖
m****j
发帖数: 120
40
来自主题: MedicalCareer版 - cornea dystrophy
在国内,发现角膜营养不良,赘疣很多。不到40岁,视力有一点影响,但不严重。
医生说没有药,只能监测。
请问有没有什么办法可以缓解不良的进一步加重。
谢谢
s********6
发帖数: 282
41
来自主题: MedicalCareer版 - cornea dystrophy
暂时没有 可以加强紫外线防护 如果觉得视力影响严重可以适当用高渗溶液配置的眼药
水清晨滴眼 视内皮功能观察 待失代偿后择期内皮移植
j***j
发帖数: 9831
42
来自主题: Pharmaceutical版 - 比利时兰牛与肌抑素 (转载)
【 以下文字转载自 Animals 讨论区 】
发信人: jindj (扎西德勒), 信区: Animals
标 题: 比利时兰牛与肌抑素
发信站: BBS 未名空间站 (Mon Aug 12 20:43:30 2013, 美东)
http://www.youtube.com/watch?v=kkVEGVHcxNQ
http://www.npr.org/blogs/health/2013/08/12/210487410/new-muscle
Research intended to help people with muscle-wasting diseases could be about
to launch a new era in performance-enhancing drugs.
The research has produced several muscle-building drugs now being tested in
people with medical problems, including muscular dystrophy, cancer and
... 阅读全帖
j***j
发帖数: 9831
43
来自主题: Pharmacy版 - 比利时兰牛与肌抑素 (转载)
【 以下文字转载自 Animals 讨论区 】
发信人: jindj (扎西德勒), 信区: Animals
标 题: 比利时兰牛与肌抑素
发信站: BBS 未名空间站 (Mon Aug 12 20:43:30 2013, 美东)
http://www.youtube.com/watch?v=kkVEGVHcxNQ
http://www.npr.org/blogs/health/2013/08/12/210487410/new-muscle
Research intended to help people with muscle-wasting diseases could be about
to launch a new era in performance-enhancing drugs.
The research has produced several muscle-building drugs now being tested in
people with medical problems, including muscular dystrophy, cancer and
... 阅读全帖
s******v
发帖数: 477
44
来自主题: Medicalpractice版 - had a class today "Dermatology for the internist"
Had the class today. I'd like to share with you the top ten list of DO's and
DON'Ts. I may update later when I have more time.
DO...
1.Know how to properly decribe skin lesions and eruptions
2.Pick faorite generic low, medium and high potency topical steroids for
appropriate usage
3.Understand how to prescibe topical retinoids
4.Recommend sun protection to all rosacea patients, and educate on other
triggers
5.Reommend a consistent home therapy regimen to all wart patients
6. Discuss daily skin c... 阅读全帖
G*******e
发帖数: 219
45
来自主题: Medicalpractice版 - 求助,抽血致残! (转载)
http://news.nurse.com/apps/pbcs.dll/article?AID=2005505010320
Caution: Nerve Injuries During Venipuncture
Sue Masoorli, RN
Sunday May 1, 2005 Print Select Text Size: Comments
Share this Nurse.com Article
Share on facebook Share on twitter Share on email
Permanent damage can result
when a needle point makes
contact with a nerve.
"Nurse, I feel an electric shock going down my arm." Would this patient
complaint mean anything to you when you insert an IV catheter or draw blood?
This feeling of s... 阅读全帖
L******i
发帖数: 124
46
来自主题: Medicalpractice版 - 医学信息求助:眼睛黄斑萎缩治疗
Are you aksing about Macular Degeneration or Macular Dystrophy? The latter
one can not be treated.
x****n
发帖数: 1454
47
患者不说,能从外表看的出来吗?
1. cirrhosis of liver
2. cystic fibrosis
3.haemophilia
4. multiple sclerosis
5. muscular dystrophy
多谢!
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