骨肌参与全身性氨基粉症往往被忽视
Jingwen Xu1,2, Xiaoyu Zhou1, Yingxin Wang1
1Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
Neuropathology and applied neurobiology
|July 10, 2024
概括
系统性amyloidosis经常涉及骨肌肉,但症状性肌肉病变很少见. 这项研究在大多数患者中发现了粉样蛋白沉积,但只有少数患有肌肉衰弱,这表明无症状肌肉参与的诊断不足.
科学领域:
- 神经学 神经学
- 病理学 病理学 病理学
- 心脏病学 心脏病学
背景情况:
- 系统性粉症涉及粉样纤维在组织中的沉积.
- 粉样肌病是一种罕见的表现,需要进一步调查关于骨肌肉参与的情况.
- 粉样蛋白沉积与临床/病理肌病特征之间的联系尚未完全理解.
研究的目的:
- 调查骨肌参与系统性粉样化症的患病率和临床意义.
- 为了确定骨肌中的粉样蛋白沉积是否与症状肌肉病相关.
- 分析肌肉参与全身性amyloidosis的临床和病理特征.
主要方法:
- 对28名疑似全身性amyloidosis患者进行骨肌活检 (2018-2023) 的回顾性审查.
- 分析临床数据,病理发现 (包括粉样类型的免疫组织化学) 和神经传导研究.
- 根据肌肉强度将患者分为症状 (1组) 和无症状 (2组) 肌肉病群.
主要成果:
- 在24/28个患者 (22个AL,2个ATTR) 中证实了氨基酸沉积.
- 7名患者患有症状性肌肉病变 (第一组),17名患者患有无症状肌肉病变 (第二组).
- 症状性肌肉病与更明显的神经性缩和神经病变相关,尽管粉样蛋白沉积程度相似.
结论:
- 骨肌粉样蛋白沉积在全身性粉样蛋白症中很常见.
- 症状性肌肉病是骨肌肉粉样化症的罕见结果.
- 神经病变和神经性缩在具有症状肌肉病变的患者中更为普遍.
相关概念视频
Disorders of the Skeletal Muscle
927
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...
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...
927
Myasthenia Gravis: Overview and Treatment
1.3K
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...
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...
1.3K
Myasthenia Gravis: Diagnostic Tests
753
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...
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
753
Amyloid Fibrils
9.5K
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
9.5K
Cross-bridge Cycle
117.2K
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.
117.2K
Satellite Stem Cells and Muscular Dystrophy
2.0K
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


