Related Experiment Videos
Gallstone disease: from genes to evidence-based therapy
Frank Lammert1, Juan-Francisco Miquel
1Department Internal Medicine II, Saarland University Hospital, Saarland University, Kirrberger Str., 66421 Hamburg/Saar, Germany. frank.lammert@uks.eu
Journal of Hepatology
|March 1, 2008
Summary
Gallstone disease is rising in older, obese populations. Genetic factors and new surgical techniques are changing diagnosis and prevention strategies for gallstones.
Area of Science:
- Hepatology
- Genetics
- Gastroenterology
Background:
- Increasing prevalence of gallstone disease in aging populations.
- High comorbidity with metabolic syndrome and obesity.
- Identification of hepatic ATP binding cassette transporters as genetic risk factors.
Purpose of the Study:
- To summarize molecular and genetic mechanisms of gallstone formation.
- To review current evidence-based algorithms for diagnosis and therapy.
- To highlight emerging trends in gallstone disease management.
Main Methods:
- Literature review of molecular and genetic mechanisms.
- Analysis of current evidence-based diagnostic and therapeutic algorithms.
- Discussion of recent advancements in surgical and endoscopic procedures.
Main Results:
- Gallstone formation involves complex molecular and genetic pathways.
- Hepatic ATP binding cassette transporters are key genetic susceptibility factors.
- Treatment landscape is evolving with minimally invasive surgical options.
Conclusions:
- Genetic insights offer new avenues for gallstone risk assessment and prevention.
- Modern surgical and endoscopic techniques are transforming patient care.
- Comprehensive understanding of mechanisms and management is crucial for combating gallstone disease.
Related Concept Videos
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:20Cholecystitis
Cholecystitis is inflammation of the gallbladder, most commonly caused by obstruction of the cystic duct. This blockage prevents bile from draining, leading to gallbladder distension, inflammation, and potentially serious complications. This condition may present acutely or chronically and can happen with or without gallstones.EtiologyAbout 95% of cholecystitis cases are calculous, caused by gallstones blocking the cystic duct, leading to bile accumulation and inflammation of the gallbladder...
01:26Diseases of the Liver and Gallbladder
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 related to...
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 related to...
01:17Gastritis-II: Pathophysiology
Gastritis is marked by disruption of the mucosal barrier that usually protects the stomach tissue from digestive juices and manifests in acute and chronic forms.
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
01:26Gastritis II: Pathophysiology
The pathophysiology of gastritis begins with the colonization of the stomach lining by Helicobacter pylori (H. pylori). This bacterium spreads mainly via the oral-oral route through saliva or shared utensils, and can also be transmitted in overcrowded or unhygienic environments through contaminated water, despite its brief survival outside the body.ColonizationOnce ingested, H. pylori enters the stomach and begins colonization by navigating through the mucus layer lining the stomach wall. It...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...