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Related Concept Videos

Chronic Bowel Disorders: Introduction01:17

Chronic Bowel Disorders: Introduction

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Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
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Inflammatory Bowel Disease V: Surgical Management01:21

Inflammatory Bowel Disease V: Surgical Management

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Surgical interventions for inflammatory bowel disease (IBD), which includes ulcerative colitis and Crohn's disease, are essential in managing symptoms and addressing complications. The selection of surgical procedures is contingent upon the specific conditions and complications that stem from these illnesses.
Here are some common surgical interventions for IBD:
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Inflammatory Bowel Disease I: Ulcerative Colitis01:27

Inflammatory Bowel Disease I: Ulcerative Colitis

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Introduction
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Gastrointestinal Motility Disorders01:20

Gastrointestinal Motility Disorders

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Gastrointestinal or GI motility disorders are characterized by irregular gastrointestinal tract movements, disrupting food transit from the mouth to the anus. They are caused by damage or dysfunction in gut muscles or nerves. These disorders can cause symptoms such as severe constipation, diarrhea, abdominal pain, and swallowing difficulties. Disorders can affect any segment of the GI tract and range widely in severity, from common conditions like GERD to life-threatening conditions like...
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Inflammatory Bowel Disease II: Crohn's Disease01:30

Inflammatory Bowel Disease II: Crohn's Disease

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Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
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Updated: Nov 28, 2025

Chronic Salmonella Infection Induced Intestinal Fibrosis
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[Gastrointestinal polyposis syndromes].

I Spier1,2, R Hüneburg3,4, S Aretz5,3

  • 1Institut für Humangenetik, Universitätsklinikum Bonn, Venusberg-Campus 1, 53127, Bonn, Deutschland. isabel.spier@uni-bonn.de.

Der Internist
|November 25, 2020
PubMed
Summary

Gastrointestinal polyposis syndromes are a significant cause of hereditary colorectal cancer. Accurate diagnosis through genetic testing and multidisciplinary care is vital for effective prevention and treatment.

Keywords:
Adenomatous polyposis coliColorectal cancer, hereditaryEarly detection of cancerHamartomatous polyposis syndromesSerrated polyposis syndrome

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Area of Science:

  • Gastroenterology
  • Oncology
  • Genetics

Background:

  • Gastrointestinal polyposis syndromes are the second leading cause of hereditary colorectal cancer after Lynch syndrome.
  • Identifying causal germline mutations aids in diagnosis, risk assessment, and predictive testing.

Purpose of the Study:

  • To review the differential diagnosis of gastrointestinal polyposis syndromes.
  • Focus on endoscopic findings, histology, extracolonic features, and molecular diagnostics.

Main Methods:

  • Literature search on gastrointestinal polyposis syndromes.

Main Results:

  • Familial adenomatous polyposis (FAP) has subtypes often requiring germline mutation detection for distinction.
  • Hamartomatous polyposis syndromes present diagnostic challenges due to clinical overlap.
  • Serrated polyposis syndrome may be the most common, but its etiology is largely unknown.

Conclusions:

  • Early and accurate classification of polyposis is essential for prevention and therapy.
  • Multidisciplinary expert centers are beneficial for managing affected families.