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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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Video Experimental Relacionado

Updated: Jan 7, 2026

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

Mohsen Sharifi Tabar1, Dongyu Wang2, Gina M Peloso2

  • 1The University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.

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

Los factores genéticos influyen en el momento de la enfermedad de Alzheimer (EA). Este estudio identificó APOE como loci críticos y novedosos como ROR1, ROR2, ADAMTS8 y SHISA6, lo que sugiere influencias genéticas distintas en la aparición de la EA a lo largo del tiempo.

Palabras clave:
enfermedad de Alzheimergenéticatiempo de apariciónAPOEROR1ROR2ADAMTS8SHISA6estudios de cohortessecuenciación del genoma completoestudios de asociación del genoma completo

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Área de la Ciencia:

  • Genética y Genómica; Neurociencia; Medicina de Precisión

Sus antecedentes:

  • El riesgo de la enfermedad de Alzheimer (EA) está influenciado por factores genéticos complejos, y los estudios de asociación del genoma completo (GWAS) han identificado varios loci asociados con la EA.; Si bien los factores hereditarios desempeñan un papel en el momento de la aparición de la EA, los GWAS centrados específicamente en el tiempo hasta la aparición de la EA son limitados.

Objetivo del estudio:

  • Identificar variantes genéticas asociadas con el tiempo hasta la aparición de la enfermedad de Alzheimer (EA) utilizando datos de secuenciación del genoma completo (WGS).; Investigar el papel de los factores genéticos en el momento de la aparición de la EA en diversas poblaciones ancestrales.

Principales métodos:

  • Se utilizaron datos del Proyecto de Secuenciación de la Enfermedad de Alzheimer (ADSP) y del programa Trans-Omics for Precision Medicine (TOPMed), que incluyen más de 14.000 individuos con datos de tiempo hasta la EA y WGS.; Se emplearon modelos de riesgos proporcionales de Cox específicos de la ascendencia, ajustando por factores demográficos y genéticos, en poblaciones blancas no hispanas, negras e hispanas.; Se analizaron variantes con frecuencia de alelo menor (MAF) >1%.

Principales resultados:

  • La región APOE mostró la asociación más fuerte con el momento de aparición de la EA en los conjuntos de datos ADSP y TOPMed.; Se alcanzó significancia en todo el genoma para variantes mapeadas a ROR1, ROR2, ADAMTS8 y SHISA6, genes involucrados en el desarrollo neuronal, la función sináptica y la neuroplasticidad.; Se observó una superposición limitada entre los resultados de GWAS de tiempo hasta la EA y los GWAS tradicionales de caso-control, excepto para APOE.

Conclusiones:

  • Los hallazgos preliminares confirman el papel crítico de APOE en el momento de la aparición de la EA e identifican nuevos loci potenciales.; Factores genéticos distintos pueden influir en el riesgo de EA a lo largo del tiempo en comparación con el riesgo general de EA.; Continúan los análisis adicionales de meta-análisis, evaluación de variantes raras y análisis multi-ancestrales para ampliar los hallazgos.