基础科学和病原发生学
Sarika Mutyala1, Laith N Maali2, Sai Kumar Pasya3
1Gandhi Medical College, HYDERABAD, Telangana, India.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 24, 2025
概括
线粒体脑筋疲劳症,乳酸性酸和类似中风的情节 (MELAS) 综合征可以出现不典型的类似中风的情节. 早期识别和代谢测试对于管理这种罕见的线粒体疾病至关重要.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 线粒体生物学 线粒体生物学
背景情况:
- 线粒体脑膜异常症,乳酸和类似中风的发作 (MELAS) 是一种罕见的遗传性疾病.
- 它源于线粒体DNA的突变,影响能量生产,导致多器官功能障碍.
- 临床症状包括类似中风的发作,发作和神经系统缺陷.
研究的目的:
- 报告一种MELAS综合征病例,呈现出重复的类似中风的发作.
- 强调诊断挑战和考虑线粒体疾病在非典型的神经学表现中的重要性.
- 突出早期代谢测试和干预在管理MELAS中的作用.
主要方法:
- 一名56岁的男性患有听力损失和高血压,出现视野缺陷.
- 最初的类似中风的症状导致了抗血小板和抗凝治疗.
- 渐进的神经衰退,乳酸/酸盐的升高,以及MRI发现促使人们怀疑MELAS.
主要成果:
- 尽管进行了血管治疗,但患者经历了反复的神经衰退和类似中风的情节.
- 生物化学测试显示血清和脑脊液中乳酸和酸盐的水平升高.
- 大脑MRI显示了与MELAS一致的渐进性皮质超强度.
结论:
- 这一案例强调了怀疑 mitochondrial 疾病的必要性 在患有复发性中风的患者中,特别是在非典型的成像和进展.
- 快速识别和代谢评估对于有效的MELAS管理至关重要.
- 早期干预策略可以显著改善MELAS综合征患者的治疗结果.
相关概念视频
Infection
11.6K
When a pathogen enters the body and reproduces, it can cause an infection, damage body cells, and cause illness symptoms that eventually lead to disease. Therefore, its prevention requires breaking the chain of infection.
The chain begins with pathogens: bacteria, viruses, fungi, prions, or parasites such as protozoa helminths. These can be present on the skin as transient or resident flora, or they can be acquired from the environment. Identifying and treating the type of infection and...
The chain begins with pathogens: bacteria, viruses, fungi, prions, or parasites such as protozoa helminths. These can be present on the skin as transient or resident flora, or they can be acquired from the environment. Identifying and treating the type of infection and...
11.6K
Urinary Tract Infection II: Pathophysiology
524
The pathophysiology of urinary tract infections (UTIs) encompasses several progressive stages, beginning with bacterial colonization and culminating in potential systemic complications if untreated. UTIs are primarily initiated by bacteria, such as Escherichia coli, which often originate from the gastrointestinal tract and migrate to the urinary system through the periurethral area. This migration can occur via several routes, including improper hygiene practices, sexual activity, or...
524
Cystic Fibrosis: Pathogenesis
676
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
676
Pneumonia II: Pathophysiology
2.5K
The pathophysiology of pneumonia involves the following steps:
2.5K
Stages of Infection
64.7K
Stages of infection describe what happens to a susceptible host once a pathogen invades the human body. The stages of infection are incubation, prodromal, illness, stage of decline, and convalescence. The incubation stage is the period from exposure to a pathogen until symptoms start. The infected person is unaware of impending illness as the pathogens grow and multiply within the body. The duration may vary depending on the type of infection. The incubation period of measles averages ten to...
64.7K
Defense Against Bacterial Pathogens
2.6K
The human immune system is a complex network of cells, tissues, and organs that work together to defend the body against bacterial infections. It consists of various immune cells, each playing a specific role in the defense mechanism.
Phagocytes
Phagocytes are the frontline soldiers of the immune system. They include neutrophils and macrophages. Neutrophils are the most abundant type of white blood cell and are quickly mobilized to the site of infection. Macrophages are larger cells that patrol...
Phagocytes
Phagocytes are the frontline soldiers of the immune system. They include neutrophils and macrophages. Neutrophils are the most abundant type of white blood cell and are quickly mobilized to the site of infection. Macrophages are larger cells that patrol...
2.6K


