d*****d
发帖数: 2449 | 1 前几天收到一个前同事的email(below)，他的一个朋友的女儿的了一种罕见的非进行性
肌无力症（立刻让我
想起了王朔的小说），全球确诊的不过五百例，两岁前死亡率66%。父母碰到这种事真
是心痛呀！
A friend of mine Marc Guillet's daughter, Ava Guillet, was diagnosed with a
rare genetic disorder called Nemaline Myopathy (NM). NM is a generally non-
progressive disease causing muscle weakness, but severe forms have a 66%
mortality rate before age two. This muscular disease is extremely rare with
only 500 known cases worldwide; it took six months of seeing doctors in
every
area of specialty be |
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w***0
发帖数: 222 | 2 Myopathy 就是他们的诊断。一开始香港医生就已经做出诊断了。女孩表现出明显的
Cardiomyopathy临床；男孩表现的是呼吸衰竭。都是Myopathy比较常见的临床表现。
Myopathy的病理基因原因有很多。这个就是进一步的分析了。只要不是可控代谢病，这
个进一步的检查现阶段对现阶段治疗并没有太大的直接作用。
Genetic Tests 做的话主要要包括父母。首先应当做常见的基因异常。在美国，
Myopathy 或Cardiomyopathy 的临床中心一般都有全美共享基因库数据和样本库可以对
照，不知道香港和中国。 |
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p****n
发帖数: 9263 | 3 another 女老印造假
RETRACTED: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-
ATPase Activity and Lysosomal Acidification
Reason: Our paper reported the identification of mutations in the
gene VMA21 in patients with X-linked Myopathy with Excessive Autophagy (XMEA
) and characterized the molecular mechanisms underlying the disease
phenotype. Many of the figure panels in the paper summarize data from
multiple experiments. We have now detected a number of errors in these
panels |
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j**********k
发帖数: 296 | 4 按说data quality差些无所谓，但这篇真算是极品了。editor该被fire掉，天雷滚滚的谬误竟然也可以送出去给reviewers？reviewers也是吃屎了，即使print out都该能看出一堆问题。
RETRACTED: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-
ATPase Activity and Lysosomal Acidification
Reason: Our paper reported the identification of mutations in the
gene VMA21 in patients with X-linked Myopathy with Excessive Autophagy (XMEA
) and characterized the molecular mechanisms underlying the disease
phenotype. Many of the figure panels in the paper summ |
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S*******l
发帖数: 4637 | 7 基因检测确诊。那谁可以看一下。另外要了解下metabolic myopathy，防患于未然。 |
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f*****9
发帖数: 2 | 8 想在这里咨询一下目前国内或者国外对于杆状体肌病的治疗方法。
患病者是个亲戚家的一个小女孩，现在已经有5岁了，很聪明懂事。她四肢很纤细，无
力。只能慢慢的蹭着往前走，从
来都没有跑过，蹲下去就站不起来。她的父母带她到国内各个大医院都看过了，最后的
病理标本检查结果如下：
病理标本取自股四头肌
肌原纤维变性，伴均质无结构块状物形成，符合杆状体肌病理。
这是种遗传病，英文叫做：rod myopathy。
医院并没有给出什么治疗方案，但她的父母不想放弃，四处打听治疗的方法，目前似乎
并没有很明显的效果。
上次回家的时候，他们特意带给我看那个小孩，他们是在尽一切可能的方式，哪怕希望
很渺小。可是我不是学医的，一
点都不懂，看着那个小孩真觉得很可怜很无辜，就在这里尽些微薄之力，咨询一下大家
，有没有知道的治疗的方法。
非常感谢！ |
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f******I
发帖数: 769 | 9
nemaline myopathy has variable presentations, some the symptoms are very
mild, some are severe(patient die during infancy from respiratory muscle
failure),
if your have trunk muscle weakness then you might need to have supportive
brace or have surgery to fuse the spine to stablize the posture,
if you have bulbar muscle weakness then swallowing becomes an issue and
might need to have tube feeding,
if respiratory muscles are involved patient might become vent dependent, |
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发帖数: 1 | 10 两大可能： Polymyositis， metabolic myopathy.
以他的年纪， 后者可能性更大。 Aldolase查过吧， 大剂量激素用过吧。
如果来美国， 各大医学院附属医院， 都应该没问题， 不一定只那顶尖几个。 这个，
不是什么疑难杂症。 |
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p****2
发帖数: 8 | 11 求肿瘤／心血管／生物物理方面的审稿机会。非常感谢！
具体方向为：
Tumor metastasis
tumor microenvironment
oncogene
epigenetics
emzymology
signal transduction
cardiac myopathy (hypertension, atherosclerosis and myocardial infarction)
nanoparticle-based drug delivery
live cell imaging
receptor-ligand binding kinetics
CRISPR/Cas9
transgenic mouse models
如果有合适的审稿机会可否推荐？ 请私信我。
万分感谢！ |
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p****2
发帖数: 8 | 12 求肿瘤／心血管／生物物理方面的审稿机会。非常感谢！
具体方向为：
Tumor metastasis
tumor microenvironment
oncogene
epigenetics
emzymology
signal transduction
cardiac myopathy (hypertension, atherosclerosis and myocardial infarction)
nanoparticle-based drug delivery
live cell imaging
receptor-ligand binding kinetics
CRISPR/Cas9
transgenic mouse models
如果有合适的审稿机会可否推荐？ 请私信我。
万分感谢！ |
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f*******n
发帖数: 5241 | 13 Red yeast rice还是有副作用的。朋友说其成分和降胆固醇的药类似，不如直接找医生
开药还有医生检查安全些。
http://en.wikipedia.org/wiki/Red_yeast_rice
Safety
The safety of red yeast rice products has not been established, and some
commercial supplements have been found to contain high levels of the toxin
citrinin.[20] As commercial products will have highly variable amounts of
monacolins,[20] and rarely declare this content on the label, defining risk
is difficult. Ingredient suppliers have also been suspected of "spiking" red
yeast rice prep... 阅读全帖 |
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y******n
发帖数: 4527 | 14 ☆─────────────────────────────────────☆
serendip (serendipity) 于 (Thu Jul 14 15:51:58 2011, 美东) 提到:
Dear Ultra Running Community,
I am writing to the list to share my story of acute renal failure. I do
not post to the list often but I feel that this story is important for the
community to know. I would welcome any questions or comments in regard to
this report especially from any medical professionals who may be out
there.
Some people on this list know me and many do not so let me start wit... 阅读全帖 |
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m**********n
发帖数: 299 | 19 MEYER M. HARRIS; ERWIN BRAND. Metabolic and Therapeutic Studies in the
Myopathies WITH SPECIAL REFERENCE TO GLYCINE ADMINISTRATION. JAMA. 1933;101(
14):1047-1052.
please send to
t*****[email protected]
thanks |
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w******y
发帖数: 2504 | 20 1. Autophagy. 2013 Feb 25;9(5). [Epub ahead of print]
Rapamycin-induced autophagy aggravates pathology and weakness in a mouse
model of VCP-associated myopathy. Ching JK, Weihl CC.Department of Neurology
; Hope Center for Neurological Diseases; Washington University School of
Medicine; St. Louis, MO USA.
2. Autophagy. 2013 Feb 1;9(2):239-40. doi: 10.4161/auto.22526. Epub 2012 Oct
29.
Autophagy activation ameliorates neuronal pathogenesis of FTLD-U mice: a new
light for treatment of TARDBP/TDP-43... 阅读全帖 |
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x*********h
发帖数: 2223 | 21 昨天去amshi 买的鸡，发现胸口处是绿色的，然后上网查了一下说是：deep pectoral
myopathy。。 大体是因为肌肉坏死造成的， 不知道除去这部分肉以外的鸡肉还可以
吃么。。
谢谢 |
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l**********1
发帖数: 5204 | 22 if Cre rabbit
two EU dot com are doing it now:
a dot com
PolyGene dot CH
has a fully functional production site for the establishment of transgenic
and knockout / knockin animals, such as mice, rats or rabbits. Those animal
models (of human diseases) are suitable for all kind of research areas, such
as cardiology, oncology, obesity, immunology, neurology, physiology, ageing
, etc.
generation of constitutive or conditional, inducible knock-out animals (
mouse and rabbit) applying Cre/lox technol... 阅读全帖 |
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E****A
发帖数: 184 | 23 【 以下文字转载自 Biology 讨论区 】
发信人: EpiDNA (bio sucks), 信区: Biology
标 题: Paper help! Thanks!
发信站: BBS 未名空间站 (Thu Dec 8 21:38:35 2011, 美东)
http://www.ncbi.nlm.nih.gov/pubmed/22106710
Acta Myol. 2011 Oct;30(2):91-5.
Hereditary inclusion-body myopathy with sparing of the quadriceps: the many
tiles of an incomplete puzzle.
Plz send it to e****[email protected]
Thanks in advance!! |
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a**e
发帖数: 5094 | 24 malingnant hyperthermia+myopathy+developmental problems |
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b**o
发帖数: 5769 | 25 记住贵的statin half life长，随便什么时候吃都行。
statin最主要的点是要注意全身酸痛myopathy. |
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d**o
发帖数: 618 | 26 你先澄清一下，EMG发现有问题的deltoid在左还是右，发现的问题是neuropathy还是
myopathy？
rotate |
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m****g
发帖数: 530 | 27 SILVER SPRING, Md., March 19 /PRNewswire-USNewswire/ -- The U.S. Food and
Drug Administration today
warned patients and healthcare providers about the potential for increased
risk of muscle injury from the
cholesterol-lowering medication Zocor (simvastatin) 80 mg. Although muscle
injury (called myopathy) is a
known side effect with all statins, today's warning highlights the greater
risk of developing muscle injury,
including rhabdomyolysis, for patients when they are prescribed and use
higher d |
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h*******e
发帖数: 5550 | 28 //bless...
刚得知,我和CCY的同班同学2岁的儿子,得了神经母细胞瘤,已经到了四期.
还有SF的玻璃天使...
心情无比沉重....
希望老天能创造奇迹!
a
with |
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t********u
发帖数: 1998 | 29 bless!
too many bad news related to the children these days, sign!
a
with |
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s*********n
发帖数: 450 | 30 Bless.
不知是现代医学更发达，信息更流通，还是环境中的污染物越来越多，这样的消息越来
越多，尤其是对胎儿和幼儿，他们太vulnerable了。 |
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d********4
发帖数: 1710 | 31 作了父母才能体会到每次读到这些孩子得病的消息都无比心痛。。。。
a
with |
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