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首页> 外文期刊>Journal of neurology >Neurogenetics: T1 level translational research, myopathies and moyamoya disease.
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Neurogenetics: T1 level translational research, myopathies and moyamoya disease.

机译：神经遗传学：T1级转化研究，肌病和烟雾病。

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摘要

Translationai research and translating research into treatments are major issues for clinicians and patients. T1 level translationai research is research that bridges a basic science observation from the bench to a clinical investigation at the bedside (for references See Noseworthy et al. 2008). T2 research may extend an observation from a clinical research population to research in an entire community. Such research can also work in the other direction: from observations in patients back to the bench to refine or improve potential treatments, which can then re-enter the cycle. The first article, which is accompanied by an Editorial and an Editorial Note in Neurology, is such an example. It demonstrates a lack of toxicity of alpha-sarcoglycan overexpression, which is an important step in the multi-step process of clinical gene therapy, in this case in limb-girdle muscular dystrophy. The second and third articles - both also published in Neurology - show in single patients that stem cell transplantation may cure patients with a sporadic late-onset nemaline myopathy (SLONM) associated with a monoclonal IgG gam-mopathy. These two short articles were also chosen to broaden our differential diagnosis spectrum because the affected patients might be misdiagnosed as having an atypical form of amyotrophic lateral sclerosis.
机译：Translationai研究和将研究转化为治疗是临床医生和患者的主要问题。 T1级翻译研究是将基础科学观察从实验台延伸到床旁临床研究的桥梁（有关参考，请参见Noseworthy等人2008）。 T2研究可以将观察范围从临床研究人群扩展到整个社区的研究。这样的研究也可以朝另一个方向进行：从对患者的观察再到工作台，以完善或改进潜在的治疗方法，然后可以重新进入治疗周期。这样的例子就是第一篇文章，其中附有神经病学社论和社论说明。它证明了缺乏α-糖聚糖过表达的毒性，这是临床基因治疗的多步骤过程中的重要步骤，在这种情况下是肢带型肌营养不良症。第二篇和第三篇文章（也都发表在《神经病学》上）表明，在单例患者中，干细胞移植可以治愈伴有单克隆IgG gam-mopathy的散发性迟发性肾上腺肌病（SLONM）的患者。选择这两个简短的文章也是为了扩大我们的鉴别诊断范围，因为受影响的患者可能被误诊为非典型形式的肌萎缩性侧索硬化症。

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