相关实验视频
Updated: Jul 12, 2025

06:26
Novel and Innovative Hybrid Technique for Type A Aortic Dissection
Published on: March 28, 2025
320
自发的宫动脉剖析:它真的是一种结缔组织疾病吗? 一个全面的审查
Muhammed Enes Gunduz1, Ramanathan Kadirvel2, David F Kallmes3
1Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, United States.
Frontiers in neurology
|October 27, 2023
概括
年轻成年人的自发宫动脉剖析 (sCeAD) 可能源于潜在的遗传结合组织疾病. 皮肤活检显示,超过一半的sCeAD患者有结缔组织异常,这表明他们有倾向于动脉壁软弱.
科学领域:
- 血管生物学 血管生物学
- 遗传学 遗传学 是一个
- 结合组织疾病 结合组织疾病
背景情况:
- 宫动脉自发解剖 (sCeAD) 是年轻成年人中风的主要原因.
- 确切的sCeAD的原因是未知的,没有可靠的生物标志物用于风险识别.
- 以前的研究表明,sCeAD与动脉壁连接组织异常之间存在联系.
研究的目的:
- 通过皮肤活检来研究皮肤连接组织的超结构性变化.
- 在受影响患者中识别与sCeAD相关的潜在遗传变异.
主要方法:
- 在PubMed和Scopus数据库中按照PRISMA指南进行了系统的文献搜索.
- 包括的研究集中在sCeAD患者的皮肤活检评估上,数据由两位审查员独立选.
- 分析包括超结构变化,遗传变异和与结合组织相关的蛋白质组数据.
主要成果:
- 在包括的16项研究中 (459名患者),有50.5%的患者表现出超结构性结缔组织异常,如不规则的原和弹性纤维.
- 在常见的原蛋白或弹性蛋白基因中没有发现致病突变,但链接分析表明染色体区域 (15q2,10q26) 与结合组织变化相关.
- 基因丰富分析确定了细胞外矩阵和原组织基因 (例如,COL5A2,COL3A1) 的变异,蛋白质组分析将差异性蛋白质表达与复发性sCeAD中的结缔组织疾病联系起来.
结论:
- 证据支持一种基因决定的亚临床连接组织疾病作为动脉壁软弱和sCeAD的潜在倾向因素.
- 需要进一步进行大规模研究,以阐明结缔组织在sCeAD病变发生过程中的确切作用.
相关概念视频
Aneurysm I: Introduction
11
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...
11
Aneurysm II: Clinical Manifestations and Diagnostic Studies
10
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
10
Introduction to Connective Tissues
9.7K
Connective tissues are one of the four main tissue types in humans that are extensively present in the body. They are characterized by cells embedded in an extracellular matrix (ECM) composed of a ground substance and three main types of protein fibers— collagen, elastic, and reticular fibers. The ground substance of connective tissues can range from a watery and jelly-like consistency to mineralized and hard. The wide variety of cells in the connective tissues include fibroblasts,...
9.7K
Connective Tissue Cell Types
3.2K
Connective tissue develops from the mesoderm of a developing embryo and consists of cells, fibers, and ground substance: a gel-like material containing large complexes of carbohydrates and proteins. Connective tissue was first identified as a separate tissue family in the 18th century, and Johannes Peter Muller coined the term connective tissue.
Fat cells (adipocytes), smooth muscle cells (myoblasts), and bone cells (osteoblasts) are some connective tissue cell types. Some immune system cells...
Fat cells (adipocytes), smooth muscle cells (myoblasts), and bone cells (osteoblasts) are some connective tissue cell types. Some immune system cells...
3.2K
Peripheral Artery Disease I: Introduction
9
Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs but also impacts other areas, such as the arms, thereby impairing overall circulation and organ function.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty deposits inside the arterial...
9
Rheumatic Heart Disease I: Introduction
14
Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
14

