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Equilibrium and Balance01:15

Equilibrium and Balance

4.3K
The inner ear assumes dual functionalities of auditory perception and equilibrium maintenance. The vestibule is the organ responsible for balance. This organ contains mechanoreceptors, specifically hair cells, endowed with stereocilia, which aid in deciphering information regarding the position and motion of our heads. Two intrinsic components, the utricle and saccule, help perceive head position, while the semicircular canals track head movement. Neurological messages initiated in the...
4.3K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

3.7K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.7K
Ultrasound II: Endoscopic Ultrasound and FibroScan01:25

Ultrasound II: Endoscopic Ultrasound and FibroScan

63
Endoscopic Ultrasound (EUS) and FibroScan are valuable diagnostic tools in gastroenterology and hepatology, each with specific applications and techniques.
Endoscopic Ultrasound (EUS):
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Amyloid Fibrils03:03

Amyloid Fibrils

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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,...
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Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

176
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
176
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

600
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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相关实验视频

Updated: May 25, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

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在法布里病中出现头.

Aslak Broby Johansen1, Ulla Feldt-Rasmussen2,3, Mads Klokker1

  • 1Copenhagen Hearing and Balance Center, Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, 2100 Copenhagen, Denmark.

Biomedicines
|February 26, 2025
PubMed
概括

在法布里病患者中,头和平衡问题非常普遍,影响了近80%的患者. 中心原因,如异常的光动力学测试和多药学可能会导致这些症状.

关键词:
布里 布里 布里 布里 布里问题平衡问题平衡问题.头,头,可能会出现.头 障碍指数 头 障碍指数耳神经学检查 耳神经学检查多种药房多种药房头 (vertigo) 是一种令人头的情况.

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Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

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相关实验视频

Last Updated: May 25, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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科学领域:

  • 神经学 神经学
  • 遗传学 是一个遗传学.
  • 耳鼻喉科 耳鼻喉科 耳鼻喉科

背景情况:

  • 费布里病是一种罕见的X链 lysosomal储存障碍.
  • 在法布里病中,有闻地报道了静脉管功能障碍和头.
  • 关于Fabry患者头的患病率和原因的研究有限.

研究的目的:

  • 为了确定费布里病患者中头和平衡问题的患病率.
  • 调查潜在的外围,中心或其他病因因素.
  • 探索这些症状在法布里人群中的特征.

主要方法:

  • 对91名Fabry患者进行了修改后的头障碍清单调查.
  • 八名自我报告头的Fabry患者接受了全面的耳神经学检查.
  • 调查包括视频阴影影像,视频头部脉冲测试,VEMP和听力测量.

主要成果:

  • 在55名接受调查的Fabry患者中,有78.2%的人报告头/平衡问题,通常是短暂的发作.
  • 所有八名接受检查的患者均有正常的外耳/中耳状况.
  • 五名患者在光运动测试和听力测试中显示出异常.

结论:

  • 在法布里病中,头/平衡问题存在很高的患病率.
  • 异常的光动力学测试表明症状的来源是中枢神经系统.
  • 在接受检查的患者中,多种药物是导致头的潜在因素.