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Related Concept Videos

Barrett Esophagus-II: Clinical Manifestations and Management01:21

Barrett Esophagus-II: Clinical Manifestations and Management

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Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure...
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Author Spotlight: Investigating the Pathophysiology of Eosinophilic Esophagitis
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Novel transcriptomic panel identifies histologically active eosinophilic oesophagitis.

Emilie Gueguen1, Yasser Morsy1, Céline Mamie1

  • 1Department of Gastroenterology and Hepatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.

Gut
|April 26, 2024
PubMed
Summary
This summary is machine-generated.

Researchers identified a new 53-gene panel to diagnose active Eosinophilic Esophagitis (EoE) and its variants. This Histologically Active EoE Diagnostic Panel (HAEDP) aids in accurate EoE diagnosis and disease monitoring.

Keywords:
oesophageal diseaseoesophageal disordersoesophagitis

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Area of Science:

  • Gastroenterology
  • Genomics
  • Molecular Biology

Background:

  • Eosinophilic Esophagitis (EoE) involves esophageal dysfunction and eosinophil infiltration.
  • Existing diagnostic tools like the EoE Diagnostic Panel (EDP) distinguish active from non-active EoE.
  • New EoE variants with similar symptoms but lacking eosinophils have been identified.

Purpose of the Study:

  • To identify a novel gene expression panel for diagnosing active EoE.
  • To differentiate active EoE from EoE in remission and control individuals.
  • To aid in the diagnosis of newly discovered EoE variants.

Main Methods:

  • Analysis of gene expression profiles from esophageal biopsies using total RNA-sequencing (RNA-seq).
  • Utilized data from the Swiss Eosinophilic Esophagitis Cohort Study (SEECS).
  • Incorporated publicly accessible RNA-seq data (GSE148381) for EoE variants.

Main Results:

  • A novel 53-gene panel, the Histologically Active EoE Diagnostic Panel (HAEDP), was identified.
  • HAEDP effectively distinguishes active EoE from EoE in remission and controls (p≤0.05).
  • Combining HAEDP with EDP enhances understanding of EoE inflammation and mechanisms.

Conclusions:

  • The identified 53 dysregulated genes are linked to EoE's histological inflammatory activity.
  • The HAEDP, in conjunction with EDP, offers a valuable tool for EoE diagnosis.
  • This panel may improve the accuracy of EoE diagnosis and disease monitoring.