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相关概念视频

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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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...
195
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

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Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
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Overview of Protein Metabolism01:21

Overview of Protein Metabolism

1.3K
Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
1.3K
Anticholinesterase Agents: Poisoning and Treatment01:26

Anticholinesterase Agents: Poisoning and Treatment

921
Anticholinesterases, also known as cholinesterase inhibitors, work by blocking the breakdown of acetylcholine, leading to its accumulation in the synaptic cleft. This accumulation indirectly enhances both muscarinic and nicotinic actions. These agents are classified as reversible or irreversible based on their mechanism of action.     
Irreversible agents form a strong bond with the cholinesterase enzyme, making it inactive. The breakdown of the phosphorylated enzyme is...
921
Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

1.6K
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...
1.6K
Oxidations of Aldehydes and Ketones to Carboxylic Acids01:15

Oxidations of Aldehydes and Ketones to Carboxylic Acids

4.0K
Oxidation of aldehydes and ketones results in the formation of carboxylic acids. Aldehydes, bearing hydrogen next to the carbonyl group, are easily oxidized compared to ketones. This is because an aldehydic proton can easily be abstracted during oxidation.
Aldehydes readily undergo oxidation in strong oxidizing agents such as potassium permanganate and chromic acid. The oxidation can also be carried out using mild oxidizing agents such as silver oxide. In fact, aldehydes can be easily oxidized...
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相关实验视频

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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

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急发多焦点手部功能障碍 由于阿尔卡普托努里亚

Brahman Shankar Sivakumar1, Vincent Vin Gia An2, Nicholas Stewart3

  • 1Department of Hand Surgery, Royal North Shore Hospital, St Leonards, New South Wales, Australia.

Journal of hand surgery global online
|July 31, 2023
PubMed
概括

阿尔卡普顿可以影响周围神经系统,导致手腕和肘部道症状. 这种罕见的代谢障碍涉及同质酸的积累,在多个位置迅速影响神经.

科学领域:

  • 神经学 神经学
  • 代谢障碍 代谢障碍 代谢障碍
  • 遗传学 是一个遗传学.

背景情况:

  • 阿尔卡普顿尿症 (AKU) 是一种罕见的自体逆性代谢障碍.
  • 它的特点是酶同质化 1,2-二氧化酶 (HGD) 的缺乏.
  • 导致同质酸 (HGA) 在各种组织中积累.
关键词:
阿尔卡普托努里亚 (Alkaptonuria) 是一种表达性疾病.手部手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手术手 ...均质酸是一种同质酸.

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