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相关概念视频

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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Cross-bridge Cycle01:26

Cross-bridge Cycle

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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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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...
2.0K
Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

1.5K
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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Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

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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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Chemical Synapses01:26

Chemical Synapses

8.9K
Chemical synapses are specialized sites between two neurons or between a neuron and a non-neuronal cell like a muscle, glandular or sensory cell.
Because chemical synapses depend on the release of neurotransmitter molecules from synaptic vesicles to pass on their signal, there is an approximately one millisecond delay between when the axon potential reaches the presynaptic terminal and when the neurotransmitter leads to opening of postsynaptic ion channels. Additionally, this signaling is...
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Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
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脊柱肌肉缩症 脊柱肌肉缩症 脊柱肌肉缩症

Maryam Oskoui, Laurent Servais

    Continuum (Minneapolis, Minn.)
    |October 18, 2023
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    此摘要是机器生成的。

    脊椎肌肉缩 (SMA) 的诊断和治疗已经取得了重大进展. 通过支持性护理和FDA批准的新疗法进行早期干预,可以改善SMN1缺失患者的治疗结果.

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    Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis ALS
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    科学领域:

    • 神经学 神经学
    • 遗传学 遗传学 是一个
    • 儿科 儿科 儿科

    背景情况:

    • 脊椎肌肉缩 (SMA) 是一种遗传性神经肌肉疾病,由SMN1基因的同卵性缺失引起.
    • 新生儿对SMA的查正在扩大,但对于未查的人群的早期诊断以及错过的化合物异构菌体,需要保持警.

    研究的目的:

    • 提供关于脊柱肌肉缩 (SMA) 的诊断评估和治疗的全面概述.
    • 突出新生儿查和SMA药理干预的最新进展.
    • 强调支持性护理在改善SMA患者治疗结果方面的重要性.

    主要方法:

    • 对SMA的诊断标准和评估方法的审查.
    • 对SMA新生儿查方案的最新进展进行分析.
    • 针对SMN蛋白水平的FDA批准的药理疗法 (nusinersen,onasemnogene abeparvovec,risdiplam) 的评估.

    主要成果:

    • 早期诊断和治疗启动对于最大限度地提高治疗疗效至关重要.
    • 药物治疗已证明有效改善无事件生存和运动功能.
    • 支持性护理和适应性设备显著提高了自主性和生活质量.

    结论:

    • 在SMA诊断和治疗方面的进步已经大大改善了患者的预后.
    • 优化支持性护理仍然至关重要.
    • 需要进一步的研究,以了解SMA的不断变化的自然历史,并采用新的干预措施.