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Infection01:20

Infection

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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...
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Urinary Tract Infection II: Pathophysiology01:25

Urinary Tract Infection II: Pathophysiology

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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...
521
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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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,...
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Pneumonia II: Pathophysiology01:29

Pneumonia II: Pathophysiology

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The pathophysiology of pneumonia involves the following steps:
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Stages of Infection01:26

Stages of Infection

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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 Pathogens01:31

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...
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相关实验视频

Updated: Jan 7, 2026

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses
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基础科学和病原发生学

Ricky Lali1, Shihong Mao2, Basilio Cieza3

  • 1Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.

Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
PubMed
概括
此摘要是机器生成的。

这项研究引入了第一个罕见变异多基因风险评分,用于晚发性阿尔茨海默病 (LOAD),证明了其在预测不同人群中LOAD风险方面的有效性. 新的评分,rvPRS-AD,利用罕见的遗传变异来改善风险分层.

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科学领域:

  • 遗传学 是一个遗传学.
  • 神经科学是一个神经科学.
  • 计算生物学 计算生物学

背景情况:

  • 晚发性阿尔茨海默氏病 (LOAD) 构成了全球重大健康挑战,预计到2050年,这种病例将增加三倍.
  • 遗传因素对LOAD变异的贡献超过60%,但使用常见变异的传统风险评分在不同人群中具有有限的预测能力.
  • 对于LOAD的多基因框架中的罕见破坏性变异的预测潜力以前没有被评估.

研究的目的:

  • 开发第一个罕见变异多基因LOAD风险评分 (rvPRS-AD).
  • 评估rvPRS-AD.的跨祖先预测能力.
  • 评估rvPRS-AD与常见变异预测因子和APOEε4状态的独立性.

主要方法:

  • 使用完整基因组适应的RV-EXCALIBER方法开发的rvPRS-AD用于罕见变异基因负载测试.
  • 利用欧洲LOAD病例和gnomAD控制数据来识别风险转移基因.
  • 在西班牙裔参与者中构建了rvPRS-AD,通过对每个基因的罕见破坏性变异的负担进行加权.

主要成果:

  • 确定ABCA7是与LOAD最强烈相关的基因 (OR = 1.40,p=1×10−4).
  • rvPRS-AD显示出显著的跨祖先预测能力,在西班牙裔中增加了38%的LOAD几率 (1-SD增加).
  • 该得分仍然独立于APOEε4状态的预测性,并确定了极端风险的个体 (概率增加≥2倍).

结论:

  • rvPRS-AD是第一个利用罕见变异在多基因框架中用于LOAD风险预测的遗传仪器.
  • 这种方法可以在祖先多样化的群体中提供更好的预测.
  • rvPRS-AD提供了一个新的工具,用于独立于常见变异的LOAD风险分层.