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

Disorders of the Male Reproductive System01:20

Disorders of the Male Reproductive System

Men's health issues are increasingly recognized as significant, with several conditions posing common threats. Among these, testicular cancer is especially prevalent in younger men, particularly those aged 20 to 35 years. The disease often manifests as a painless mass in the testicles, sometimes accompanied by a sensation of heaviness or a dull ache.
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra. Symptoms...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Tuberculosis01:23

Tuberculosis

Tuberculosis (TB) remains a significant global health concern, primarily targeting the lungs and spreading through airborne transmission. Infection begins when aerosolized droplet nuclei, expelled by an individual with active TB, are inhaled by another person. These microscopic particles carry Mycobacterium tuberculosis, the causative agent of TB. Upon reaching the alveoli, the bacilli are engulfed by alveolar macrophages. However, due to their specialized lipid-rich cell wall, these pathogens...
Cryptococcal Meningitis01:27

Cryptococcal Meningitis

Cryptococcal meningitis is a life-threatening opportunistic infection predominantly associated with HIV/AIDS, accounting for over 100,000 deaths annually worldwide. However, it also affects individuals with other forms of immunosuppression, including those undergoing immunosuppressive therapy, organ transplant recipients, patients with innate immunodeficiencies, and individuals with hematological disorders. The infection is caused mainly by Cryptococcus neoformans and Cryptococcus gattii,...
Factors Affecting Illness01:18

Factors Affecting Illness

When a person's physical, emotional, intellectual, social development or spiritual functioning is compromised, this deviation from a healthy normal state is called illness. Illness creates stress that in turn harms individuals. Irritation, anger, denial, hopelessness, and fear are behavioral and emotional changes an individual experiences in the phases of illness. A variety of factors influence a person's health and well-being.
For instance, risk factors are connected to illness, disability,...
Trichomoniasis01:18

Trichomoniasis

Trichomonas vaginalis is a flagellated protozoan parasite and the causative agent of trichomoniasis, one of the most prevalent non-viral sexually transmitted infections in the United States. This extracellular parasite primarily colonizes the lower genitourinary tract in women—particularly the vagina—and in men, the urethra and prostate. Its structural and functional adaptations enable its survival, motility, and pathogenicity within the host environment.Structural Features and Host EntryT.

You might also read

Related Articles

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

Sort by
Same author

Test of CP Symmetry in the Neutral Decays of Λ via J/ψ→ΛΛ[over ¯].

Physical review letters·2026
Same author

Precise Measurement of the Chromoelectric Dipole Moment of the Charm Quark.

Physical review letters·2026
Same author

Precise Measurement of Matter-Antimatter Asymmetry with Entangled Hyperon-Antihyperon Pairs.

Physical review letters·2026
Same author

Observation of Λ[over ¯]p→K^{+}π^{+}π^{-}π^{0} and Λ[over ¯]p→K^{+}π^{+}π^{-}2π^{0}.

Physical review letters·2026
Same author

First Measurement of the D_{s}^{+}→K^{0}μ^{+}ν_{μ} Decay.

Physical review letters·2026
Same author

Observation of the Electromagnetic Radiative Decays of the Λ(1520) and Λ(1690) to γΣ^{0}.

Physical review letters·2026

Related Experiment Video

Updated: May 31, 2026

Comprehensive & Cost Effective Laboratory Monitoring of HIV/AIDS: an African Role Model
23:56

Comprehensive & Cost Effective Laboratory Monitoring of HIV/AIDS: an African Role Model

Published on: October 31, 2010

One man, one disease?

Frankie Wai Tsoi Cheng1, K F To, V Lee

  • 1Prince of Wales Hospital, The Chinese University of Hong Kong, Department of Paediatrics, Shatin, New Territories, Hong Kong.

BMJ Case Reports
|June 21, 2011
PubMed
Summary
This summary is machine-generated.

Li-Fraumeni syndrome (LFS) was diagnosed in a pediatric patient with refractory immature teratoma and gliomatosis peritonei. Genetic testing confirmed a TP53 mutation, highlighting the importance of cancer genetic studies even in atypical presentations.

More Related Videos

An Affordable HIV-1 Drug Resistance Monitoring Method for Resource Limited Settings
19:57

An Affordable HIV-1 Drug Resistance Monitoring Method for Resource Limited Settings

Published on: March 30, 2014

ALS - Motor Neuron Disease: Mechanism and Development of New Therapies
15:48

ALS - Motor Neuron Disease: Mechanism and Development of New Therapies

Published on: July 29, 2007

Related Experiment Videos

Last Updated: May 31, 2026

Comprehensive & Cost Effective Laboratory Monitoring of HIV/AIDS: an African Role Model
23:56

Comprehensive & Cost Effective Laboratory Monitoring of HIV/AIDS: an African Role Model

Published on: October 31, 2010

An Affordable HIV-1 Drug Resistance Monitoring Method for Resource Limited Settings
19:57

An Affordable HIV-1 Drug Resistance Monitoring Method for Resource Limited Settings

Published on: March 30, 2014

ALS - Motor Neuron Disease: Mechanism and Development of New Therapies
15:48

ALS - Motor Neuron Disease: Mechanism and Development of New Therapies

Published on: July 29, 2007

Area of Science:

  • Oncology
  • Genetics
  • Pediatric Medicine

Background:

  • A 12-year-old girl with a significant family history of cancer presented with immature teratoma and gliomatosis peritonei.
  • The patient's disease exhibited an unusually refractory course despite standard first and second-line chemotherapy treatments.

Purpose of the Study:

  • To investigate the underlying genetic cause of the refractory pediatric malignancy.
  • To determine if Li-Fraumeni syndrome (LFS) was present, despite a non-typical tumor presentation.

Main Methods:

  • Tumor genetic testing was performed on the patient and her parents.
  • Analysis focused on identifying sequence variations in cancer-related genes, specifically the TP53 gene associated with LFS.

Main Results:

  • Li-Fraumeni syndrome (LFS) was diagnosed in the patient and her father.
  • A TP53 sequence variation, R248W (CGG>TGG), a common transcriptionally inactive mutation in LFS, was identified.
  • The patient's tumor presentation was atypical for Li-Fraumeni syndrome.

Conclusions:

  • This case underscores the critical role of cancer genetic studies in diagnosing familial cancer syndromes, even when clinical presentation deviates from typical patterns.
  • Early diagnosis of LFS enables genetic counseling and facilitates the implementation of surveillance and screening programs for affected families.
  • Prompt genetic evaluation is essential for managing refractory pediatric malignancies with a potential hereditary component.