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相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Aneurysm I: Introduction01:30

Aneurysm I: Introduction

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An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Atherosclerosis II: Clinical Manifestations and Diagnostic Tests01:27

Atherosclerosis II: Clinical Manifestations and Diagnostic Tests

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Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
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Atherosclerosis I: Introduction01:30

Atherosclerosis I: Introduction

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Atherosclerosis is a progressive disorder characterized by the buildup of plaques on the arterial inner wall, causing them to narrow and harden over time. These plaques comprise lipids, calcium, blood components, carbohydrates, and fibrous tissue. The process primarily affects the intima of large and medium-sized arteries, reducing blood flow in any artery.Etiology and risk factorsThe cause of atherosclerosis is multifactorial, involving a complex interplay among endothelial injury, lipid...
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Overview of Systemic Arteries01:11

Overview of Systemic Arteries

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The human body is a complex, well-organized machine, and at the heart of its operations lies the circulatory system. This network of blood vessels, which includes systemic arteries, plays a vital role in maintaining life by transporting nutrients, oxygen, and waste products to and from cells throughout the body.
Systemic circulation is the part of the cardiovascular system that carries oxygenated blood away from the heart to the body's tissues and returns deoxygenated blood back to the...
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相关实验视频

Updated: Sep 20, 2025

An Immunohistopathologic Study to Profile the Folate Receptor Beta Macrophage and Vascular Immune Microenvironment in Giant Cell Arteritis
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家庭巨细胞动脉炎.

Yi Ling Dai1, Ali Khodor2, Raul E Ruiz-Lozano2

  • 1Ophthalmology, Lahey Hospital and Medical Center, Peabody, Massachusetts, USA.

BMJ case reports
|May 27, 2025
PubMed
概括

家庭巨细胞动脉炎虽然很少见,但表明影响治疗耐药性和缺血风险的遗传成分. 进一步的遗传研究对于早期诊断和管理容易失去视力的患者至关重要.

科学领域:

  • 类风湿病学 类风湿病学
  • 遗传学 遗传学 是一个
  • 眼科医生 眼科 眼科

背景情况:

  • 巨细胞动脉炎 (GCA) 的遗传基础在很大程度上是未知的.
  • 遗传因素可能会影响GCA治疗耐药性和缺血症并发症风险,如视力丧失.

研究的目的:

  • 突出家庭病例在理解GCA遗传学的重要性.
  • 强调需要对GCA进行遗传研究,以改善患者的治疗结果.

主要方法:

  • 时间动脉活检阳性GCA.患者的回顾性病例审查.
  • 在20年的时间里,在一个机构内分析了家庭GCA病例.

主要成果:

  • 在198名患者中确定了两例家族性巨细胞动脉炎 (2.5%).
  • 家庭GCA表明潜在的遗传倾向.

结论:

  • 家庭GCA病例强调了基因调查的重要性.
  • 进一步的遗传研究可以帮助及时诊断,风险分层和管理GCA患者,特别是预防缺血后续.
关键词:
遗传学 遗传学 是一个血管炎是一种血管炎.视觉路径 视觉路径 视觉路径

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