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相关概念视频

Nucleotide Excision Repair01:38

Nucleotide Excision Repair

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DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
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Allosteric Proteins-ATCase01:19

Allosteric Proteins-ATCase

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Binding sites linkages can regulate a protein's function.  For example, enzyme activity is often regulated through a feedback mechanism where the end product of the biochemical process serves as an inhibitor.
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to  N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis...
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Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

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The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
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Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

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Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
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阿尔卡普顿性色症:一个基于病例的审查.

K H Salem, A D Elmoghazy

    Acta orthopaedica Belgica
    |October 23, 2024
    PubMed
    概括

    阿尔卡普顿尿症 (AKU) 是一种罕见的代谢障碍,会导致色和严重的关节疾病. 整体关节置换有效缓解疼痛并恢复受影响患者的功能.

    科学领域:

    • 代谢障碍 代谢障碍 代谢障碍
    • 类风湿病学 类风湿病学
    • 遗传学 遗传学 是一个

    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.
    • 它是由同源酸氧化酶缺乏引起的,导致同源酸积累.
    • 它的特点是同质性酸性尿,色和关节病.

    研究的目的:

    • 为了呈现一种严重的 ochronotic 关节炎的病例,通过全关节置换进行管理.
    • 评估关节置换在缓解疼痛和改善AKU患者功能方面的有效性.

    主要方法:

    • 一个中年女性患者的病例报告,患有双边部和肩膀偏节性关节炎.
    • 为部和肩膀关节进行的分阶段全关节置换手术.
    • 对手术后的临床和功能结果的评估.

    主要成果:

    • 患者经历了成功的双边部和肩部置换,没有并发症.
    • 完全缓解疼痛,并取得了令人满意的临床和功能结果.
    • 证明了在严重的脊髓性关节病变中完全关节置换的有效性.

    结论:

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  • ,AKU的并发症,可以导致严重的外周关节关节病.
  • 在性关节病变中经常观察到多重关节的参与.
  • 整体关节置换为严重病例的持续疼痛和功能恢复提供了可行的解决方案.