中大脑突触和水道狭窄.
Yael Fisher1, Patrick Shannon1, Orli Greenberg1
1Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada.
Journal of neuropathology and experimental neurology
|December 10, 2024
概括
脑干缺陷,即大脑合突触 (mesencephalosynapsis) 在胎儿水脑症中很常见,并与水道狭窄症有关. 它通常与其他先天性异常同时发生,并具有不同的遗传和环境原因.
科学领域:
- 神经科学是一个神经科学.
- 发展生物学 发展生物学
- 医学遗传学 医学遗传学
背景情况:
- 脑干骨骨的非裂变的特征是脑干骨骨不裂变,与心室隆起和水道狭窄有关.
- 之前的研究还没有系统地检查与中大脑突触相关的全谱病理.
研究的目的:
- 为了调查水道狭窄症,半脑突触和其他病理的关联,在一个大的胎儿水头发病例队列.
- 描述脑内突触的组织学发现和临床/遗传关联.
主要方法:
- 追溯对115例胎儿水头发病例 (15-41周妊娠期) 的回顾.
- 水道组织学分类和相关中枢神经系统 (CNS) 异常的评估.
- 对临床和遗传数据的分析,包括胚胎病,染色体异常和基因突变.
主要成果:
- 在44%的胎儿阻塞性水脑症病例中观察到脑间突触 (mesencephalosynapsis).
- 半脑突触与严重的水道组织学 (67%的病例) 有显著关联.
- 相关的中枢神经系统异常 (占75%的病例) 包括脑突触和全脑;遗传联系包括糖尿病胚性病变和TBCD132突变.
结论:
- 半脑突触表明胚胎大脑干模式存在缺陷.
- 它可以是一个孤立的发现或与各种形和遗传条件相关.
- 这项研究提供了迄今为止最大的胎儿水道狭窄组织学综述.
相关概念视频
Anatomy of the Brain: Ventricles
3.0K
There are hollow fluid-filled cavities known as ventricles deep inside the human brain. There are two lateral ventricles, one in each cerebral hemisphere, and each has three different projections — the anterior, inferior, and posterior horns visible from the lateral side. A thin membrane called the septum pellucidum separates the two lateral ventricles. The slender third ventricle in the diencephalon is connected to each lateral ventricle via a channel called the interventricular foramen.
3.0K
Neurulation
41.7K
Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
41.7K
The Arch of Aorta
562
The coronary arteries, originating from the ascending aorta, bifurcate from two sinuses located within the ascending aorta. Positioned just above the aortic semilunar valve, these sinuses house essential aortic baroreceptors and chemoreceptors, crucial for maintaining cardiac function. The left coronary artery and the right coronary artery branch off from the left posterior and anterior aortic sinuses, respectively.
Encircling the heart, the coronary arteries form a ring-like structure before...
Encircling the heart, the coronary arteries form a ring-like structure before...
562
Mitral Stenosis I: Introduction
2
Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
2


