在死胎中患有Pik3ca体质突变的胸部巨型静脉形
Nunzio Cosimo Mario Salfi1, Sabrina Gismondi2, Anna Martinelli2
1Pathology Unit, Infermi Hospital, Rimini, Italy.
Fetal and pediatric pathology
|April 24, 2025
概括
这项研究报告了第一个与PIK3CA基因突变相关的死胎先天性静脉形 (VM) 病例. 广泛的VM存在由于心力衰竭而导致胎儿死亡的高风险.
科学领域:
- 遗传学 是一个遗传学.
- 病理学 病理学 病理学
- 胎儿医学 胎儿医学
背景情况:
- 先天性静脉形 (VMs) 是一种血管异常.
- 在20%的病例中,PIK3CA基因突变会导致零星的VM.
- 虚拟机可以影响深层组织和器官.
研究的目的:
- 报告由于先天性静脉形导致的胎儿死亡病例.
- 为了调查死胎胎中VM的遗传原因.
主要方法:
- 胎儿的尸检和组织学检查.
- 对于PIK3CA和TEK基因,氨基细胞的下一代测序.
- 在病变样本上对PIK3CA进行死后实时PCR.
主要成果:
- 尸体解剖显示,28周+6天的死胎中出现了一种带有双侧膜溢液的脑膜.
- 氨基细胞的遗传测试对PIK3CA和TEK突变呈负面结果.
- 尸检分析发现胎儿VM中的体质PIK3CA p.H1047X突变.
结论:
- 这是第一个在死胎中报告的先天性静脉形的病例.
- 广泛的虚拟机可以导致高输出心力衰竭的胎儿死亡.
- 人体PIK3CA突变与胎儿VM有关.
更多相关视频
05:50International Expert Consensus and Recommendations for Neonatal Pneumothorax Ultrasound Diagnosis and Ultrasound-guided Thoracentesis Procedure
Published on: March 12, 2020
13.2K
09:54Lung Rapid Recovery Procurement Combined with Abdominal Normothermic Regional Perfusion in Controlled Donation after Circulatory Death
Published on: August 15, 2022
1.7K
相关概念视频
Fetal Circulation
709
Fetal circulation is a unique system that facilitates the exchange of gases, nutrients, and waste products between the developing fetus and the mother. This intricate process takes place through a special organ called the placenta.
Two umbilical arteries transport blood from the fetus to the placenta. At the placenta, the blood absorbs oxygen and nutrients while simultaneously eliminating waste products. This oxygen-enriched and nutrient-rich blood then returns to the fetus through one...
Two umbilical arteries transport blood from the fetus to the placenta. At the placenta, the blood absorbs oxygen and nutrients while simultaneously eliminating waste products. This oxygen-enriched and nutrient-rich blood then returns to the fetus through one...
709
Veins of Thorax
533
The azygos system is a crucial part of the body's circulatory system and drains most of the thorax. It comprises the azygos, hemiazygos, and accessory hemiazygos veins.
The azygos vein, positioned just right of the midline and anterior to the vertebral column, begins at the junction of the right ascending lumbar and subcostal veins, terminating in the superior vena cava. This vein drains blood from the right side of the thoracic wall, thoracic viscera, and posterior abdominal wall.
The...
The azygos vein, positioned just right of the midline and anterior to the vertebral column, begins at the junction of the right ascending lumbar and subcostal veins, terminating in the superior vena cava. This vein drains blood from the right side of the thoracic wall, thoracic viscera, and posterior abdominal wall.
The...
533
Thoracic Aorta
317
The thoracic section of the aorta begins at the T5 vertebra and extends to the T12 level at the diaphragm, initially progressing through the mediastinum to the left of the spinal column. Throughout its course in the thoracic segment, the thoracic aorta emits various offshoots known collectively as visceral and parietal branches. The branches that predominantly supply blood to visceral organs are termed visceral branches and include bronchial, pericardial, esophageal, and mediastinal arteries,...
317
Overview of Systemic Veins
409
Systemic veins are crucial blood vessels that return deoxygenated blood from various body tissues back to the heart. There are three systemic veins that return deoxygenated blood to the heart, they are as follows.
The coronary sinus, the heart's principal vein, resides in the coronary sulcus on the heart's posterior aspect. This broad venous channel receives nearly all venous blood from the myocardium, the heart muscle. It is fed by three primary veins: the great cardiac vein, the...
The coronary sinus, the heart's principal vein, resides in the coronary sulcus on the heart's posterior aspect. This broad venous channel receives nearly all venous blood from the myocardium, the heart muscle. It is fed by three primary veins: the great cardiac vein, the...
409
Endoscopic Studies II: Thoracocentesis
185
Thoracentesis(Thoracocentesis), commonly known as pleural tap, is a medical procedure where a 22 gauge needle is inserted into the pleural space, the area between the lung and chest wall. This procedure is commonly performed to diagnose or treat various respiratory disorders.
Description
Excess pleural fluid or air may accumulate in some respiratory disorders in the thoracic cavity. To treat pleural effusion, a physician conducts thoracentesis by carefully piercing the chest wall and entering...
Description
Excess pleural fluid or air may accumulate in some respiratory disorders in the thoracic cavity. To treat pleural effusion, a physician conducts thoracentesis by carefully piercing the chest wall and entering...
185
