Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

REM Sleep Behavior Disorder01:15

REM Sleep Behavior Disorder

2.6K
REM Sleep Behavior Disorder (RBD) is a sleep disorder characterized by the absence of muscle paralysis that normally occurs during the REM phase of sleep. This absence allows individuals to physically act out their dreams, which are often vivid and disturbing. Common behaviors exhibited during episodes include kicking, punching, and yelling. These actions can be dangerous, potentially leading to injuries for the person with RBD or their bed partner.
RBD is significantly associated with...
2.6K
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

8.9K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
8.9K
Bulimia Nervosa01:30

Bulimia Nervosa

1.1K
Bulimia nervosa is a complex and severe eating disorder characterized by a cyclical pattern of binge-and-purge eating pattern. It generally involves an episode of binge eating, followed by compensatory behaviors such as vomiting, excessive exercise, laxative use, or fasting, to prevent weight gain. Despite often maintaining a normal weight, individuals with bulimia are intensely preoccupied with their body image and harbor an overwhelming fear of gaining weight. This can contribute to the...
1.1K
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation01:30

Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation

1.1K
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
1.1K
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

852
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
852
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.9K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.9K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Blue Notes.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association·2026
Same author

Reading Disabilities With and Without Co-Occurring ADHD: No Evidence for Additive Impact on Reading Skills.

Scientific studies of reading : the official journal of the Society for the Scientific Study of Reading·2026
Same author

Blue Notes.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association·2026
Same author

Blue Notes.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association·2026
Same author

Blue Notes.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association·2026
Same author

Blue Notes.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association·2026

Related Experiment Video

Updated: Apr 7, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.8K

Bannayan Ruvalcaba Riley Syndrome.

Sashidhar V Sagi1, Darren D Ballard1, Rebecca A Marks2

  • 1Department of Medicine, Division of Gastroenterology, Indiana University School of Medicine, Indianapolis, IN.

ACG Case Reports Journal
|July 10, 2015
PubMed
Summary

A patient with a history of prostate cancer was diagnosed with Bannayan Ruvalcaba Riley syndrome after discovering ganglioneuromas and a PTEN gene mutation. This case highlights the importance of genetic testing for rare polyposis syndromes.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K
Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers
09:16

Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers

Published on: March 14, 2018

10.9K

Related Experiment Videos

Last Updated: Apr 7, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.8K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K
Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers
09:16

Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers

Published on: March 14, 2018

10.9K

Area of Science:

  • Gastroenterology
  • Medical Genetics
  • Oncology

Background:

  • Colonoscopy is a crucial diagnostic tool for evaluating gastrointestinal bleeding.
  • Hamartomatous polyposis syndromes are rare genetic disorders associated with increased cancer risk.
  • PTEN gene mutations are implicated in various genetic syndromes, including Bannayan Ruvalcaba Riley syndrome.

Observation:

  • A 63-year-old male presented with hematochezia.
  • Colonoscopy revealed numerous ganglioneuromas.
  • The patient had a history of prostate cancer treated with radiation.

Findings:

  • Histological examination confirmed ganglioneuromas.
  • Genetic testing identified a PTEN gene mutation.
  • Clinical findings were suggestive of Bannayan Ruvalcaba Riley syndrome.

Implications:

  • This case underscores the significance of a multidisciplinary approach involving gastroenterology, genetics, and oncology.
  • Early diagnosis of Bannayan Ruvalcaba Riley syndrome allows for proactive management and surveillance.
  • Understanding the genetic basis of polyposis syndromes can guide personalized treatment strategies.