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

Diseases of the Liver and Gallbladder01:26

Diseases of the Liver and Gallbladder

330
Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
330
Chronic Pancreatitis I: Introduction01:24

Chronic Pancreatitis I: Introduction

52
The pancreas, an elongated and flat gland situated behind the stomach, serves a vital function in digesting food and managing blood sugar levels.
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
52
Chronic Pancreatitis II: Collaborative Care01:29

Chronic Pancreatitis II: Collaborative Care

46
The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
46
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

135
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
135
Pedigree Analysis01:35

Pedigree Analysis

81.9K
Overview
81.9K
Cell Specific Gene Expression01:58

Cell Specific Gene Expression

13.2K
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
13.2K

You might also read

Related Articles

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

Sort by
Same author

[Neonatal Cholestasis: A Narrative Review of the Working Group of the Latin American Society of Pediatric Gastroenterology, Hepatology and Nutrition].

Acta gastroenterologica Latinoamericana·2025
Same author

[[The Observational Study]].

Acta gastroenterologica Latinoamericana·2025
Same author

[Biliary Atresia Registry: First Report in Argentina].

Acta gastroenterologica Latinoamericana·2025
Same author

On multiple comparisons and competitive variables.

Archivos argentinos de pediatria·2025
Same author

Genetic cholestasis: classification according to the cellular defect.

Archivos argentinos de pediatria·2024
Same author

Agenesis of the gallbladder: A multicenter case series and review of the bibliography.

Archivos argentinos de pediatria·2024

Related Experiment Video

Updated: May 8, 2025

Creation of Reversible Cholestatic Rat Model
09:39

Creation of Reversible Cholestatic Rat Model

Published on: May 21, 2011

14.9K

Genetic cholestasis: Clinical and laboratory features.

Mirta Ciocca1, Fernando Álvarez2

  • 1Pediatric Hepatology and Liver Transplantation, Hospital Alemán, City of Buenos Aires. Argentina.

Archivos Argentinos De Pediatria
|May 6, 2025
PubMed
Summary
This summary is machine-generated.

Genetic causes account for over one-third of infant cholestasis cases. Early genetic diagnosis aids in targeted treatment and reduces the need for invasive procedures, benefiting pediatric patients and their families.

Keywords:
cholestasiscirrhosis.clinical coursediagnosisgeneticstesting

More Related Videos

Bile Duct Ligation in Mice: Induction of Inflammatory Liver Injury and Fibrosis by Obstructive Cholestasis
08:56

Bile Duct Ligation in Mice: Induction of Inflammatory Liver Injury and Fibrosis by Obstructive Cholestasis

Published on: February 10, 2015

51.8K
Isolation of Neonatal Extrahepatic Cholangiocytes
07:54

Isolation of Neonatal Extrahepatic Cholangiocytes

Published on: June 5, 2014

10.2K

Related Experiment Videos

Last Updated: May 8, 2025

Creation of Reversible Cholestatic Rat Model
09:39

Creation of Reversible Cholestatic Rat Model

Published on: May 21, 2011

14.9K
Bile Duct Ligation in Mice: Induction of Inflammatory Liver Injury and Fibrosis by Obstructive Cholestasis
08:56

Bile Duct Ligation in Mice: Induction of Inflammatory Liver Injury and Fibrosis by Obstructive Cholestasis

Published on: February 10, 2015

51.8K
Isolation of Neonatal Extrahepatic Cholangiocytes
07:54

Isolation of Neonatal Extrahepatic Cholangiocytes

Published on: June 5, 2014

10.2K

Area of Science:

  • Pediatric Gastroenterology
  • Medical Genetics
  • Hepatology

Background:

  • Cholestasis in newborns and infants often presents with similar clinical and biochemical features.
  • Genetic factors are increasingly recognized as significant contributors to cholestasis etiology.
  • High-performance genetic techniques have improved diagnostic capabilities.

Purpose of the Study:

  • To summarize genetic cholestasis classifications based on molecular defects affecting biliary secretion.
  • To facilitate early identification of genetic cholestasis by pediatricians.
  • To highlight the benefits of early genetic diagnosis in pediatric cholestasis management.

Main Methods:

  • Review and summarization of a previously published classification of genetic cholestasis.
  • Focus on molecular defects impacting biliary secretion.
  • Clinical and biochemical presentation analysis.

Main Results:

  • Genetic causes represent over one-third of infant cholestasis etiologies.
  • Early genetic diagnosis enables specific treatments and genetic counseling.
  • Genetic diagnosis can help avoid or delay invasive procedures like liver biopsy.

Conclusions:

  • Genetic diagnosis is crucial for managing pediatric cholestasis.
  • Pediatricians play a key role in early detection and referral.
  • Understanding genetic cholestasis classifications aids timely intervention and improved patient outcomes.