典型的胎儿大脑MRI异常在Pyruvate脱酶复杂缺陷中的异常
Olivier Fortin1, Kelsey Christoffel1,2, Abdullah Shoaib3,4
1Zickler Family Prenatal Pediatrics Institute, Children's National Hospital, Washington, District of Columbia, USA, 20010.
medRxiv : the preprint server for health sciences
|April 22, 2024
概括
松酸脱酶复合体缺乏症 (PDCD) 显示出特定的产前大脑MRI发现. 早期的第二个三个月的性变化在质突出可能是这种代谢障碍的新型诊断标志物.
科学领域:
- 神经成像是一种神经成像.
- 遗传学 是一个遗传学.
- 线粒体的新陈代谢
背景情况:
- 酸盐脱酶复合体缺乏症 (PDCD) 是一种遗传性线粒体代谢障碍.
- 在PDCD中记录了新生儿大脑成像,但产前MRI发现的理解较少.
- 本研究旨在使用胎儿成像和基因组数据来描述PDCD的产前神经和系统表现.
研究的目的:
- 通过使用胎儿MRI,全面描述基因确认PDCD的产前神经和全身表现.
- 为了在子宫内识别潜在的PDCD早期成像生物标志物.
- 为了将胎儿成像发现与遗传诊断相关联.
主要方法:
- 医疗记录,胎儿MRI数据和被诊断患有遗传PDCD的胎儿的遗传检测结果的回顾性审查.
- 对成像检测结果的描述性分析,包括大脑结构,体积和病变的存在.
- 图像检查结果与检查时的妊娠年龄的相关性.
主要成果:
- 分析了十个患有PDCD的胎儿,揭示了常见的发现,如体发育不良,异常旋转,大脑体积减少和周周结节性囊性病变.
- 具体发现因季度而异:第二季度的胎儿显示有囊性变化的扩大质突出,而第三季度的胎儿则表现出生殖细胞的囊.
- 相关异常包括心室内出血和中脑形,在某些情况下伴有水头.
结论:
- 在PDCD中胎儿MRI发现与新生儿发现相似,但在怀孕早期可能是微妙的.
- 在第二个三个月内,质突起的囊性变化可能成为PDCD的新型早期诊断标志物.
- 产前MRI识别PDCD特征可以指导遗传咨询,怀孕决策和新生儿护理.
相关概念视频
01:15Pyruvate Oxidation
After glycolysis, the charged pyruvate molecules enter the mitochondria via active transport and undergo three enzymatic reactions. These reactions ensure that pyruvate can enter the next metabolic pathway so that energy stored in the pyruvate molecules can be harnessed by the cells.
First, the enzyme pyruvate dehydrogenase removes the carboxyl group from pyruvate and releases it as carbon dioxide. The stripped molecule is then oxidized and releases electrons, which are then picked up by NAD+...
First, the enzyme pyruvate dehydrogenase removes the carboxyl group from pyruvate and releases it as carbon dioxide. The stripped molecule is then oxidized and releases electrons, which are then picked up by NAD+...
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...