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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...
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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...
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Defense Against Bacterial Pathogens01:31

Defense Against Bacterial Pathogens

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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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Updated: Jan 7, 2026

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses
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Ciencia básica y patogénesis

Vivek Ruhela1, Basilio Cieza1, Richard Mayeux2

  • 1Columbia University, New York, NY, USA.

Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
PubMed
Resumen
Este resumen es generado por máquina.

Este estudio identificó variantes genéticas específicas vinculadas al riesgo de la enfermedad de Alzheimer en muestras de cerebro de hispanos y blancos no hispanos. Estos hallazgos resaltan la regulación genética específica de la ascendencia y los objetivos potenciales para la medicina de precisión.

Palabras clave:
GenómicaNeurocienciaGenética de poblaciones

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Área de la Ciencia:

  • Genómica
  • Neurociencia
  • Genética de poblaciones

Sus antecedentes:

  • Los estudios de loci de rasgos cuantitativos de expresión (eQTL) mejoran la comprensión de la regulación génica en enfermedades complejas como la enfermedad de Alzheimer (AD).
  • Existe una investigación limitada sobre eQTL en diversos grupos étnicos, lo que requiere análisis específicos de la población.
  • Se utilizaron muestras de cerebro de la corteza prefrontal del New York Brain Bank.

Objetivo del estudio:

  • Identificar los loci de rasgos cuantitativos de expresión (eQTL) en diferentes grupos étnicos.
  • Investigar los mecanismos regulatorios genéticos subyacentes al riesgo de la enfermedad de Alzheimer (AD).
  • Evaluar las variantes genéticas compartidas y específicas de la ascendencia que influyen en la AD.

Principales métodos:

  • Se analizaron datos de RNA-Seq de 32 muestras de cerebro de la corteza prefrontal de hispanos y 263 de blancos no hispanos (NHW).
  • Se realizaron análisis cis- y trans-eQTL estratificados utilizando TensorQTL.
  • Se emplearon Genome-Wide Association Study (GWAS) y eCAVIAR para evaluar la colocalización genética e identificar variantes causales.

Principales resultados:

  • Se observó una colocalización de la señal cis-eQTL y GWAS para el gen EHD1 en cerebros hispanos (rs755980338, probabilidad posterior = 0.9947).
  • Se identificó una fuerte colocalización de la señal trans-eQTL y GWAS para TMEM68 y DEFA10P en cerebros NHW (rs7840855, probabilidad posterior = 0.7).
  • Estos hallazgos indican variantes causales compartidas con relevancia funcional en el riesgo de AD.

Conclusiones:

  • Los análisis de eQTL y colocalización estratificados por población son cruciales para comprender la genética de enfermedades complejas.
  • EHD1, TMEM68 y DEFA10P pueden desempeñar funciones específicas de la ascendencia en la patogénesis de la enfermedad de Alzheimer.
  • Las ideas sobre la arquitectura genética de la AD pueden informar las estrategias de medicina de precisión en diversas poblaciones.