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相关概念视频

Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

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Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
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Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
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Myasthenia Gravis: Diagnostic Tests01:15

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Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
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Cross-bridge Cycle01:26

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As muscle contracts, the overlap between the thin and thick filaments increases, decreasing the length of the sarcomere—the contractile unit of the muscle—using energy in the form of ATP. At the molecular level, this is a cyclic, multistep process that involves binding and hydrolysis of ATP, and movement of actin by myosin.
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Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

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Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
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Myasthenia Gravis: Overview and Treatment01:20

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Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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远端肌肉病变是一种病变.

Marco Savarese1, Manu Jokela2, Bjarne Udd3

  • 1Folkhälsan Research Center, Helsinki, Finland; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.

Handbook of clinical neurology
|August 10, 2023
PubMed
概括
此摘要是机器生成的。

远端肌肉病是一种遗传性肌肉疾病,会导致四肢逐渐软弱. 本章详细介绍了它们的临床病理学,遗传学和机制,强调了基因型-表型相关性.

关键词:
距离肌肉发育不良症 距离肌肉发育不良症远端肌肉病变是一种病变.脚的软弱 脚的软弱手的软弱 手的软弱

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Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies
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科学领域:

  • 神经学 神经学
  • 遗传学 是一个遗传学.
  • 病理学 病理学 病理学

背景情况:

  • 远端肌肉病变是一种遗传性肌肉疾病.
  • 它们会导致远距离肌肉 (前臂,手,下腿,脚) 的逐渐衰弱和缩.
  • 有超过20种形式存在,发病,表现和进展各异.

研究的目的:

  • 描述远端肌肉病变的临床病理和遗传方面.
  • 强调已知的病因和病理生理机制.
  • 为了解决缺乏全面的基因型-表型相关性的问题.

主要方法:

  • 临床病理学和遗传学研究的文献综述.
  • 对已知病因和病理生理机制的分析.
  • 综合目前对基因型-表型相关性的理解.

主要成果:

  • 远端肌肉病包括20多种遗传亚型.
  • 观察到既有主导形式和衰退形式.
  • 基因型-表型相关性仍然不完全理解.

结论:

  • 了解远端肌肉病变需要整合临床病理学和遗传数据.
  • 需要进一步的研究来阐明基因型-表型关系.
  • 阐明机制是潜在治疗策略的关键.