相关实验视频
Updated: Jul 5, 2025

06:08
A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
23.5K
下垂体腺瘤与马克龙状上腺增生和新型阿马迪略重复含蛋白5 (ARMC5) 突变
Shikha Khosla1,2, Farah Alsarraf3, Eric S Nylen1,2
1Division of Endocrinology, Veterans Affairs Medical Center, Washington, DC 20422, USA.
JCEM case reports
|January 15, 2024
概括
我们报告了一例罕见的老年男性的初级双边巨性上腺增生病例,该病例与新型ARMC5基因突变有关. 患者还出现了肺栓塞和垂体腺瘤.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
背景情况:
- 主要双边巨性上腺增生症 (PBMAH) 是一种罕见的上腺疾病.
- 甲鸟重复含蛋白5 (ARMC5) 基因的突变与PBMAH有关.
- 在ARMC5相关疾病中,体质突变比生殖系突变少.
研究的目的:
- 报告一个不寻常的PBMAH病例.
- 在这个病人身上调查PBMAH的遗传基础.
- 描述与其他内分泌和血管疾病的潜在新兴关联.
主要方法:
- 上腺增生症的临床表现和成像.
- 对ARMC5基因突变进行白细胞分析.
- 对自主皮质醇分泌的评估.
- 对肺栓塞和垂体病变的评估.
主要成果:
- 一名72岁的男子出现了双侧上腺大规模扩大和轻度自主皮质醇分泌.
- 发现了一种新的异质合体体性ARMC5突变.
- 患者患有未引起的双边肺栓塞和非分泌性垂体腺瘤.
结论:
- 这一案例突出显示了一种罕见的PBMAH呈现,具有新的体质ARMC5突变.
- 这些发现表明PBMAH,ARMC5突变,肺栓塞和垂体宏瘤之间可能存在关联.
- 需要进一步的研究来阐明这些潜在的关联.
相关概念视频
Abnormal Proliferation
4.5K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.5K
mTOR Signaling and Cancer Progression
3.8K
The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
The mTOR pathway or the...
3.8K
Smooth Endoplasmic Reticulum
5.8K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
5.8K

