肌萎缩侧索硬化症:疾病机制、当前管理和治疗发展(真实EPUB)
This book provides an essential overview combining both clinical and fundamental research advances in myotonic dystrophy. The pathomechanism of myotonic dystrophy has long been unclear, but in the past decade, our understanding has shifted to a novel disease mechanism concept: “RNA disease”. Parallel to these advances in elucidating the pathophysiology, translational research is also progressing rapidly. The current challenge lies in assessing the effectiveness of treatment, and as such, there is a growing interest in observational studies of the disease’s various clinical symptoms. The book introduces readers to the molecular mechanisms within each organ and the resultant clinical features, which are presented together. In particular, it focuses on the central nervous system, since the pathology of the brain (central nervous system manifestation) has rarely been addressed systematically and will pose a persistent challenge, even if therapies have greatly advanced in the future. In addition, the book addresses the latest developments, such as research using patient-derived iPS cells and therapeutic research.
Myotonic Dystrophy provides essential information for neurologists and researchers with an interest in muscle disease, including muscular dystrophy. Furthermore, since the disease involves various complications of the brain, heart, metabolism, etc., the book will be of great value to clinicians and researchers in the cardiovascular sciences, endocrinology, diabetes, dementia, and neuropsychology, as well as genetic specialists.
这本书提供了一个结合了肌萎缩侧索硬化症临床和基础研究最新进展的必备概览。肌萎缩侧索硬化症的病理机制长期以来一直不明,但在过去十年中,我们的理解转向了一种新的疾病机制概念:“RNA疾病”。与此同时,转化研究也在迅速推进。当前面临的挑战在于评估治疗效果,并且因此观测性研究对疾病的各种临床症状越来越感兴趣。 本书向读者介绍了每个器官中的分子机制以及由此产生的临床特征,它们被一起呈现。特别是,它着重于中枢神经系统,因为大脑(中枢神经系统表现)的病理学很少得到系统性的探讨,即使未来治疗方法取得了显著进展,这也将是一个持久的挑战。此外,本书还涵盖了最新的研究成果,如使用患者来源的iPS细胞的研究和治疗研究。 肌萎缩侧索硬化症为神经科医生和对肌肉疾病感兴趣的科研人员提供了必备信息,同时也包括了肌肉萎缩。另外,由于该疾病涉及大脑、心脏、代谢等方面的多种并发症,这本书也将对心血管科学、内分泌学、糖尿病、痴呆症和神经心理学领域的临床医生及研究人员以及遗传学专家具有极大的价值。
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