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

Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

633
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...
633
Acute Coronary Syndrome I: Introduction01:30

Acute Coronary Syndrome I: Introduction

990
Acute Coronary Syndrome (ACS) encompasses a spectrum of heart conditions caused by sudden obstruction of coronary arteries, typically resulting from the rupture of an atherosclerotic plaque and subsequent thrombus (blood clot) formation. This obstruction can lead to partial or complete blockage of blood flow, causing varying degrees of myocardial ischemia or infarction.ACS includes the following clinical entities:Unstable Angina (UA)Non-ST-Elevation Myocardial Infarction (NSTEMI)ST-Elevation...
990
Irritable Bowel Syndrome I: Introduction01:17

Irritable Bowel Syndrome I: Introduction

1.0K
Irritable Bowel Syndrome (IBS) is characterized by functional disturbances in the gastrointestinal system, presenting a cluster of symptoms without evident structural or biochemical abnormalities. It primarily affects the large intestine and may cause abdominal pain, bloating, excessive gas, diarrhea, constipation, or both.
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
1.0K
Restless Leg Syndrome and Night Terrors01:27

Restless Leg Syndrome and Night Terrors

560
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...
560
Acute Coronary Syndrome V: Nursing Management01:26

Acute Coronary Syndrome V: Nursing Management

325
Nursing Assessment:Nursing management of acute coronary syndrome (ACS) involves taking the patient's history, focusing on primary complaints such as chest pain, dyspnea, and excessive sweating (diaphoresis), as well as other symptoms like back or jaw pain, nausea, vomiting, palpitations, dizziness, and fatigue. The nurse also reviews the patient's history of cardiac events, risk factors such as hypertension, diabetes, smoking, family history, and current medications.In the objective assessment,...
325
Nephrotic Syndrome II : Assessment and Medical Management01:26

Nephrotic Syndrome II : Assessment and Medical Management

239
IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document...
239

You might also read

Related Articles

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

Sort by
Same author

Phenotypic and Genetic Insights Into CNOT3-Related Intellectual Developmental Disorder of Speech Delay, Autism, and Dysmorphic Faces (IDDSADF) From the First Two Japanese Cases.

American journal of medical genetics. Part Aยท2026
Same author

Clinical features of syndromic microphthalmia in two novel RARB variants.

Human genome variationยท2026
Same author

Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site.

Clinical epigeneticsยท2026
Same author

DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome.

Human genome variationยท2025
Same author

National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan.

Agingยท2025
Same author

For early diagnosis of young patients with Werner syndrome: Indication for genetic testing.

Geriatrics & gerontology internationalยท2025

Related Experiment Video

Updated: Jan 31, 2026

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
08:31

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome

Published on: July 31, 2016

14.5K

Rubinstein-Taybi syndrome.

Rika Kosaki

    Nihon Rinsho. Japanese Journal of Clinical Medicine
    |December 20, 2018
    PubMed
    Summary

    Rubinstein-Taybi syndrome (RTS) is a genetic disorder causing intellectual disability and distinct physical traits. It results from a lack of function in the CREBBP or EP300 genes.

    Area of Science:

    • Genetics
    • Developmental Biology
    • Medical Research

    Background:

    • Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder.
    • It is defined by intellectual disability, characteristic facial anomalies, and limb abnormalities such as broad thumbs and great toes.

    Purpose of the Study:

    • To summarize the key features and genetic basis of Rubinstein-Taybi syndrome.
    • To highlight the genes implicated in RTS pathogenesis.

    Main Methods:

    • Literature review of existing studies on Rubinstein-Taybi syndrome.
    • Analysis of genetic data related to CREBBP and EP300 genes.

    Main Results:

    • Rubinstein-Taybi syndrome presents with moderate to severe intellectual disability.

    More Related Videos

    Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
    09:39

    Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

    Published on: December 4, 2021

    3.5K
    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

    7.0K

    Related Experiment Videos

    Last Updated: Jan 31, 2026

    Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
    08:31

    Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome

    Published on: July 31, 2016

    14.5K
    Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
    09:39

    Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

    Published on: December 4, 2021

    3.5K
    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

    7.0K
  • Distinctive facial features and broad thumbs and great toes are hallmark characteristics.
  • RTS is caused by haploinsufficiency of either the CREBBP or EP300 gene.

    • Conclusions:

    • Haploinsufficiency of CREBBP or EP300 is the primary cause of Rubinstein-Taybi syndrome.
    • Understanding the genetic basis is crucial for diagnosis and potential therapeutic strategies.