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

Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

Aneurysm II: Clinical Manifestations and Diagnostic Studies

589
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
589
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

557
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
557
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

764
Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
764
Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

Aortic Regurgitation II: Clinical Features and Diagnostic Tests

1.2K
Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
1.2K
Acute Coronary Syndrome III: Diagnostic Studies01:30

Acute Coronary Syndrome III: Diagnostic Studies

495
Diagnosing acute coronary syndrome or ACS begins with a thorough patient history. Notable symptoms include central, crushing chest pain radiating to the left arm, neck, jaw, or back, along with shortness of breath, sweating (diaphoresis), nausea, vomiting, dizziness, and palpitations.It is crucial to note any history of cardiac illnesses and assess risk factors, including age, gender, smoking, hypertension, diabetes, hyperlipidemia, and a sedentary lifestyle.During physical examination, vital...
495
Mitral Regurgitation II: Clinical Features and Diagnostic Tests01:23

Mitral Regurgitation II: Clinical Features and Diagnostic Tests

943
Mitral regurgitation (MR) is a valvular heart disorder in which the mitral valve fails to close tightly, allowing blood to leak backward into the heart. Understanding the clinical manifestations, assessment, diagnostic findings, and medical management of MR is crucial to effectively managing affected patients.Clinical Manifestations of Mitral RegurgitationMitral regurgitation can be acute or chronic, each presenting differently and requiring different approaches:1. Acute Mitral...
943

You might also read

Related Articles

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

Sort by
Same author

Longitudinal Analysis of Refractive Errors in Premature Children during the First Three Years of Life.

Journal of binocular vision and ocular motility·2020
Same author

Evaluation of the economic impact of modified screening criteria for retinopathy of prematurity from the Postnatal Growth and ROP (G-ROP) study.

Journal of perinatology : official journal of the California Perinatal Association·2020
Same author

Incidence and Management of Glaucoma or Glaucoma Suspect in the First Year After Pediatric Lensectomy.

JAMA ophthalmology·2019
Same author

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.

European journal of human genetics : EJHG·2019
Same author

Cryptococcal choroiditis in advanced AIDS with clinicopathologic correlation.

American journal of ophthalmology case reports·2018
Same author

Outcome of Micropulse Laser Transscleral Cyclophotocoagulation on Pediatric Versus Adult Glaucoma Patients.

Journal of glaucoma·2017

Related Experiment Video

Updated: May 1, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

5.8K

A potential life-saving diagnosis--recognizing Turcot syndrome.

Ian R Gorovoy1, Alejandra de Alba Campomanes1

  • 1Department of Ophthalmology, University of California-San Francisco, San Francisco, California.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|April 5, 2014
PubMed
Summary

A 9-year-old girl with medulloblastoma and unique eye lesions was diagnosed with Turcot syndrome. Early diagnosis of this familial adenomatous polyposis (FAP) syndrome is crucial for preventing colon cancer.

More Related Videos

Point of Care Transcranial Color-Coded Duplex Ultrasound of the Middle Cerebral Artery
04:01

Point of Care Transcranial Color-Coded Duplex Ultrasound of the Middle Cerebral Artery

Published on: August 9, 2024

2.7K
Multimodality Diagnosis of Mesenteric Ischemia
05:07

Multimodality Diagnosis of Mesenteric Ischemia

Published on: July 21, 2023

1.6K

Related Experiment Videos

Last Updated: May 1, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

5.8K
Point of Care Transcranial Color-Coded Duplex Ultrasound of the Middle Cerebral Artery
04:01

Point of Care Transcranial Color-Coded Duplex Ultrasound of the Middle Cerebral Artery

Published on: August 9, 2024

2.7K
Multimodality Diagnosis of Mesenteric Ischemia
05:07

Multimodality Diagnosis of Mesenteric Ischemia

Published on: July 21, 2023

1.6K

Area of Science:

  • Pediatric Neurology
  • Ophthalmology
  • Clinical Genetics

Background:

  • Turcot syndrome is a rare genetic disorder associated with an increased risk of colorectal cancer.
  • Familial adenomatous polyposis (FAP) is a key component of Turcot syndrome, predisposing individuals to numerous gastrointestinal polyps.

Observation:

  • A previously healthy 9-year-old girl presented with a 1-month history of ataxia, headaches, and nausea.
  • MRI revealed a large posterior fossa mass, later identified as medulloblastoma.
  • Ocular fundus examination showed characteristic pigmented ocular fundus lesions (POFLs), including cometoid and midperipheral dark lesions.

Findings:

  • The combination of medulloblastoma and specific POFLs led to the suspicion of Turcot syndrome.
  • Genetic testing confirmed the diagnosis of Turcot syndrome.
  • Turcot syndrome is classified under the umbrella of familial adenomatous polyposis (FAP) syndromes.

Implications:

  • This diagnosis is potentially life-saving due to the 100% risk of colon cancer in FAP patients.
  • Timely colectomy in early-stage disease offers a cure for FAP-associated colon cancer.
  • Recognition of rare presentations of Turcot syndrome is vital for early intervention and cancer prevention.