相关实验视频
Updated: Jun 4, 2025

09:39
Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
15.3K
管理由代谢综合征复杂的1型肌性缩症
Gianluca Pagnoni1, Ashraf Nassar1, Francesca Grossule1
1Cardiology Unit, Policlinico di Modena Hospital, Modena, Italy.
JACC. Case reports
|December 18, 2024
概括
肌肉性缩症1型 (MD1),一个常见的成年肌肉缩症,可以呈现代谢综合征 (MetS). 这一案例突显了MD1患者中MetS的新治疗方法,特别是那些对他类药物不耐受的人.
科学领域:
- 神经学 神经学
- 心脏病学 心脏病学
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 肌肉性缩症1型 (MD1) 是一种成人发病的肌肉缩症,是由DMPK基因中CTG重复扩张引起的.
- MD1影响多个器官,而不仅仅是肌肉,导致久坐的生活方式和代谢并发症的风险增加.
- 代谢综合征 (MetS) 的组成部分,如胰岛素抵抗和脂质失调,在患有慢性肌肉疾病的患者中很常见.
相关概念视频
Myasthenia Gravis: Overview and Treatment
1.2K
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...
1.2K
Diabetes: Management and Pharmacotherapy
234
The therapy for diabetes aims to alleviate hyperglycemia-related symptoms, prevent acute metabolic decompensation, and reduce chronic end-organ complications. Glycemic control is evaluated through short-term (self-monitoring, continuous glucose monitoring) and long-term (A1c, fructosamine) metrics, enabling near real-time tracking of blood glucose levels and reflecting glycemic control over specific time frames.
Insulin remains the cornerstone of treatment for most patients with type 1 and many...
Insulin remains the cornerstone of treatment for most patients with type 1 and many...
234
Satellite Stem Cells and Muscular Dystrophy
1.9K
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...
1.9K
Disorders of the Skeletal Muscle
871
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...
871
Inborn Errors of Metabolism
127
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
127
Diabetes Mellitus: Type 2 and Gestational
2.2K
Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
2.2K

