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相关概念视频

Cholesterol: Significance and Regulation01:29

Cholesterol: Significance and Regulation

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Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
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Lipid-Lowering Drugs: Statins and Miscellaneous Agents01:20

Lipid-Lowering Drugs: Statins and Miscellaneous Agents

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Hyperlipidemia, a medical condition often referred to as high cholesterol, is characterized by abnormally elevated levels of lipids in the bloodstream. When present in excess, these lipids, specifically cholesterol and triglycerides, can lead to serious health complications, often involving cardiovascular diseases. Illnesses like atherosclerosis, heart attacks, and pancreatitis have all been linked to untreated hyperlipidemia. This means controlling and regulating cholesterol and triglyceride...
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Diseases of the Liver and Gallbladder01:26

Diseases of the Liver and Gallbladder

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Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
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Gene Families01:57

Gene Families

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Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Lipid Digestion01:06

Lipid Digestion

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Lipids are large molecules that are generally not water-soluble. Since most of the digestive enzymes in the human body are water-based, there are specific steps the body must take to break down lipids and make them available for use.
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相关实验视频

Updated: Jun 28, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

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家庭性高胆固醇血症是什么?

J P S Sawhney1, Kushal Madan1

  • 1Dharma Vira Heart Center, Sir Ganga Ram Hospital, New Delhi 110060, India.

Indian heart journal
|April 10, 2024
PubMed
概括
此摘要是机器生成的。

家族性高胆固醇血症 (FH),一种常见的遗传疾病,显著增加心血管疾病的风险. 早期诊断和治疗,包括降脂疗法,对于管理FH和预防并发症至关重要.

关键词:
级联查是指一系列的查.DLCN DLCN DLCN DLCN DLCN DLCN DLCN DLCN DLCN DLCN DLCN DLCN DLCN DLCN家庭性高胆固醇血症是什么

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LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring
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LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring

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Cholesterol Efflux Assay
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Cholesterol Efflux Assay

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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring
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Cholesterol Efflux Assay
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Cholesterol Efflux Assay

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科学领域:

  • 心脏病学 心脏病学
  • 遗传学 是一个遗传学.
  • 代谢障碍 代谢障碍 代谢障碍

背景情况:

  • 家族性高胆固醇血症 (FH) 是一种自体主导遗传疾病,其特征是LDL胆固醇水平升高.
  • 它大约影响250人中的1人,估计在印度有500万人受到影响.
  • FH的诊断和治疗显著不足,特别是在患有冠状动脉疾病 (CAD) 的年轻患者中.

研究的目的:

  • 突出早期发现和管理家族性高胆固醇血症的重要性.
  • 强调FH查策略的重要性.
  • 讨论FH当前和先进的治疗方案.

主要方法:

  • 审查关于FH患病率,诊断和管理的现有文献.
  • 查策略的分析,包括儿童和级联查.
  • 对FH的药物干预和生活方式改变的评估.

主要成果:

  • FH在一般人群中普遍存在,在年轻的CAD患者中更为常见.
  • 通过儿童和级联查的早期检测对于预防CAD至关重要.
  • 有效的管理涉及终身降脂疗法,从早期开始.

结论:

  • 早期识别和启动降脂疗法对于管理FH至关重要.
  • 综合管理包括药物剂 (他类药物,非他类药物,PCSK9抑制剂) 和生活方式改变.
  • 查计划对于减少与FH相关的CAD负担至关重要.