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

Pedigree Analysis01:35

Pedigree Analysis

Overview
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Genetic Lingo01:11

Genetic Lingo

Overview
Type II Diabetes II: Pathophysiology01:24

Type II Diabetes II: Pathophysiology

PathophysiologyType 2 diabetes mellitus (T2DM ) is a chronic metabolic disorder characterized by insulin resistance and progressive pancreatic β-cell dysfunction, leading to impaired glucose homeostasis. It results from interactions among genetic predisposition, environmental factors, and metabolic stressors, such as overnutrition and a sedentary lifestyle.Insulin Resistance and Glucose DysregulationEarly T2DM involves insulin resistance in skeletal muscle, adipose tissue, and the liver.
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
Type II Diabetes I: Introduction01:26

Type II Diabetes I: Introduction

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...

You might also read

Related Articles

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

Sort by
Same author

Proteomic, Transcriptomic, and Metabolic Mediators of Post-Cardiopulmonary Bypass Vasoplegia Syndrome.

The Journal of thoracic and cardiovascular surgery·2026
Same author

Pushing the envelope: Routine operating room extubation in aortic surgery.

JTCVS open·2026
Same author

Photon-counting CT characterization of carotid perivascular adipose tissue: a layer-by-layer quantitative analysis. A preliminary analysis in an asymptomatic population.

European radiology·2026
Same author

Machine Learning for MRI Classification of Systemic Lupus Erythematous Patients with and without Neuropsychiatric Events.

Journal of imaging informatics in medicine·2026
Same author

Reduced Perioperative Bleeding With Use of Saphenous Vein Homograft as Blalock-Taussig-Thomas Shunt.

Annals of thoracic surgery short reports·2025
Same author

Vulnerable Patient Intensified Protocol to Reduce Readmission Disparities After Coronary Artery Bypass Grafting: Design, Implementation, and Lessons Learned from a Quality Initiative.

Journal of healthcare management / American College of Healthcare Executives·2025

Related Experiment Video

Updated: Jun 3, 2026

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

A case of berry syndrome type 2B.

Lorenzo Mannelli1, Ralph Mosca, Gillian Henry

  • 1Department of Radiology, New York University Langone Medical Center, New York, NY 10016, USA. mannellilorenzo@yahoo.it

Congenital Heart Disease
|March 12, 2011
PubMed
Summary

A rare congenital heart defect, Berry Syndrome type 2B, was diagnosed in an infant with congestive heart failure. Advanced imaging confirmed complex cardiac anomalies, leading to successful surgical repair.

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Related Experiment Videos

Last Updated: Jun 3, 2026

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

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Area of Science:

  • Pediatric Cardiology
  • Congenital Heart Disease
  • Medical Imaging

Background:

  • Congenital heart disease (CHD) encompasses a range of structural abnormalities present at birth.
  • Berry Syndrome type 2B is a rare complex CHD involving multiple cardiac anomalies.
  • Early and accurate diagnosis is crucial for effective management of pediatric CHD.

Observation:

  • A 34-day-old infant presented with congestive heart failure and differential cyanosis.
  • Echocardiography revealed aortopulmonary window, aortic origin of the right pulmonary artery, patent ductus arteriosus, and hypoplastic/coarcted aorta.
  • Computed tomography angiography confirmed these findings, aiding in diagnosis.

Findings:

  • The patient was diagnosed with Berry Syndrome type 2B, a specific subtype of complex CHD.
  • Surgical repair involved addressing the aortopulmonary window and reconstructing the hypoplastic aortic arch.
  • No other congenital abnormalities were identified in the patient.

Implications:

  • This case underscores the diagnostic utility of computed tomography angiography in complex pediatric CHD.
  • Non-invasive imaging modalities can obviate the need for invasive procedures like cardiac catheterization.
  • Successful surgical outcomes are achievable for complex CHD with timely diagnosis and intervention.