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

969
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...
969
Restless Leg Syndrome and Night Terrors01:27

Restless Leg Syndrome and Night Terrors

351
Restless Leg Syndrome (RLS), also known as Willis-Ekbom disease, is a neurological disorder characterized by an uncontrollable urge to move the legs due to uncomfortable sensations. These sensations typically occur during periods of rest or inactivity, particularly when lying down or sitting, and can severely disrupt sleep.
The exact cause of RLS is not fully understood, but it is believed to involve dopamine, a neurotransmitter that helps regulate muscle movement. Imbalances in dopamine levels...
351
Nightmares and Night Terrors01:18

Nightmares and Night Terrors

298
Nightmares and night terrors represent two distinct types of sleep disturbances that differ in timing, characteristics, and the sleeper's recall of the event. Nightmares are vivid, disturbing dreams that usually awaken the sleeper from REM sleep, a stage of sleep where brain activity is high, and dreams are most frequent. Upon awakening, individuals often have detailed recollections of their nightmares, which can include themes of threats to survival, security, or self-esteem.
Nightmares...
298
Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

Aneurysm II: Clinical Manifestations and Diagnostic Studies

110
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...
110
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

308
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
308
Somatic Spinal Reflexes01:22

Somatic Spinal Reflexes

4.0K
Somatic spinal reflexes are rapid, involuntary muscular responses to external stimuli that involve the somatic musculature and the spinal cord.
One of the most well-known somatic spinal reflexes is the stretch reflex, which is activated by the sudden stretching of a muscle. This reflex involves the activation of specialized sensory receptors called muscle spindles, which are located in the muscle tissue and detect changes in the length and speed of muscle contractions. When a muscle is suddenly...
4.0K

You might also read

Related Articles

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

Sort by
Same author

Needle-track metastasis in diffuse intrinsic pontine glioma: Need for a standardized surgical strategy?

Neuro-oncology advances·2026
Same author

Telomere biology disorders associated with childhood interstitial lung disease.

Clinical and experimental pediatrics·2026
Same author

Inotuzumab ozogamicin in paediatric very high risk first B-cell acute lymphoblastic leukaemia relapse (ITCC-059): a multicentre, single-arm, phase 2 trial.

The Lancet. Haematology·2026
Same author

The impact of pre-transplant extramedullary disease on the outcome of allogeneic hematopoietic cell transplantation for acute myeloid leukaemia in children- on behalf of PDWP/EBMT.

Bone marrow transplantation·2026
Same author

Survival Trends in Young Adults With Acute Leukaemia After AHSCT in Germany: Comparisons With Younger and Older Patients.

Transplantation and cellular therapy·2026
Same author

High serum ferritin is associated with genetic instability in myelodysplastic neoplasms.

Journal of cancer research and clinical oncology·2026

Related Experiment Video

Updated: Dec 4, 2025

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
09:57

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

Published on: September 20, 2024

3.2K

Revesz syndrome revisited.

Michael Karremann1, Eva Neumaier-Probst2, Frank Schlichtenbrede3

  • 1Department of Pediatrics, University Medical Center Mannheim, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany. michael.karremann@umm.de.

Orphanet Journal of Rare Diseases
|October 24, 2020
PubMed
Summary

Revesz syndrome (RS), a rare dyskeratosis congenita variant, causes early bone marrow failure and retinopathy. Survival is poor, but stem cell transplantation may offer future treatment possibilities.

Keywords:
Bone marrow failureCerebellar hypoplasiaExudative retinopathyGrowth retardationPancytopeniaRevesz syndromeShelterinTINF2Telomere

More Related Videos

Transauricular Vagus Nerve Stimulation and Electroencephalographic Assessment in Disorders of Consciousness
04:04

Transauricular Vagus Nerve Stimulation and Electroencephalographic Assessment in Disorders of Consciousness

Published on: July 11, 2025

939
SECONDs Administration Guidelines: A Fast Tool to Assess Consciousness in Brain-injured Patients
11:05

SECONDs Administration Guidelines: A Fast Tool to Assess Consciousness in Brain-injured Patients

Published on: February 6, 2021

16.3K

Related Experiment Videos

Last Updated: Dec 4, 2025

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
09:57

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

Published on: September 20, 2024

3.2K
Transauricular Vagus Nerve Stimulation and Electroencephalographic Assessment in Disorders of Consciousness
04:04

Transauricular Vagus Nerve Stimulation and Electroencephalographic Assessment in Disorders of Consciousness

Published on: July 11, 2025

939
SECONDs Administration Guidelines: A Fast Tool to Assess Consciousness in Brain-injured Patients
11:05

SECONDs Administration Guidelines: A Fast Tool to Assess Consciousness in Brain-injured Patients

Published on: February 6, 2021

16.3K

Area of Science:

  • Genetics and Rare Diseases
  • Hematology
  • Ophthalmology

Background:

  • Revesz syndrome (RS) is an exceptionally rare variant of dyskeratosis congenita (DKC).
  • Only anecdotal case reports have been documented in existing literature.

Purpose of the Study:

  • To comprehensively characterize the clinical and epidemiological features of Revesz syndrome.
  • To describe the natural course of the disease.
  • To report the first case of RS in central Europe.

Main Methods:

  • Systematic literature review of published Revesz syndrome cases.
  • Inclusion of 18 pediatric patients diagnosed with RS.
  • Summary of clinical manifestations and epidemiological data.

Main Results:

  • Early bone marrow failure (median age 1.5 years) and retinopathy (median age 1.1 years) were observed in all patients.
  • The classical DKC triad had low prevalence; seizures occurred in 20% of patients during early childhood.
  • Median survival was 6.5 years, with no patients surviving past 12 years; 4 of 8 SCT recipients were alive at follow-up.

Conclusions:

  • Revesz syndrome is a severe DKC variant characterized by universal early bone marrow failure and retinopathy.
  • Prognosis is poor, with limited survival rates.
  • Stem cell transplantation shows potential for improving outcomes in RS patients.