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Infection01:20

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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.
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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

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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.
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Stages of Infection01:26

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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

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

Avijit Podder1,2, Yi Juin Liew2, Ravi S Pandey2

  • 1The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.

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

La enfermedad de Alzheimer (EA) muestra diferencias moleculares entre individuos y sexos, mejor identificadas por ómicas de un solo sujeto. Este enfoque revela subtipos moleculares distintos para el tratamiento personalizado de la EA.

Palabras clave:
heterogeneidad de la enfermedad de Alzheimerómicas de un solo sujetosubtipos molecularesmedicina de precisióndesregulación específica del sexo

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Área de la Ciencia:

  • Neurociencia
  • Genómica
  • Proteómica

Sus antecedentes:

  • La enfermedad de Alzheimer (EA) presenta una heterogeneidad molecular significativa, a menudo oscurecida por los análisis tradicionales de cohortes.
  • Los enfoques ómicos de un solo sujeto ofrecen una visión granular de los mecanismos moleculares a nivel de paciente en la EA.
  • Estos métodos avanzados pueden mejorar la estratificación de la enfermedad y guiar las estrategias terapéuticas personalizadas.

Objetivo del estudio:

  • Investigar la variabilidad molecular a nivel individual en la enfermedad de Alzheimer utilizando ómicas de un solo sujeto.
  • Identificar desregulaciones moleculares y subgrupos de pacientes dependientes del sexo en la EA.
  • Explorar el potencial de los datos ómicos para la medicina de precisión en la EA.

Principales métodos:

  • Análisis de datos de transcriptómica de ARN-Seq y proteómica de tejido cerebral post-mortem (cohorte ROSMAP).
  • Evaluación de la desregulación génica basada en el individuo utilizando puntuaciones z en relación con los controles.
  • Análisis de enriquecimiento de vías de un solo sujeto y agrupación no supervisada para estratificar a los pacientes.

Principales resultados:

  • Se identificó desregulación funcional individualizada y dependiente del sexo en la transcriptómica de la EA (p. ej., peroxisomas, vías de señalización MAPK).
  • Se revelaron patrones específicos del sexo en las vías endolisosomales y de mielinización; la apoptosis y la epigenética se vincularon con la progresión de la enfermedad.
  • La agrupación identificó subtipos moleculares (p. ej., ciclo celular, sinapsis) y correlaciones entre la carga de amiloide y el estrés oxidativo.

Conclusiones:

  • Los análisis ómicos de un solo sujeto capturan la heterogeneidad molecular de la EA y la desregulación dependiente del sexo de manera más efectiva que los enfoques de cohorte.
  • Se descubrieron subtipos de pacientes biológicamente distintos, algunos relacionados con medidas cognitivas, que ofrecen biomarcadores potenciales.
  • Los hallazgos proporcionan un marco para la medicina de precisión en la EA a través de firmas ómicas individualizadas.