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

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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, but...
Factors Affecting Illness01:18

Factors Affecting Illness

When a person's physical, emotional, intellectual, social development or spiritual functioning is compromised, this deviation from a healthy normal state is called illness. Illness creates stress that in turn harms individuals. Irritation, anger, denial, hopelessness, and fear are behavioral and emotional changes an individual experiences in the phases of illness. A variety of factors influence a person's health and well-being.
For instance, risk factors are connected to illness, disability,...
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
Fibril-associated Collagen01:11

Fibril-associated Collagen

Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...

You might also read

Related Articles

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

Sort by
Same author

Phase transitions induced by resonant light: A phenomenological approach.

The Journal of chemical physics·2025
Same author

Spin-exchange induced spillover on poor man's Majoranas in minimal Kitaev chains.

Journal of physics. Condensed matter : an Institute of Physics journal·2025
Same author

Persistent Self-Induced Larmor Precession Evidenced through Periodic Revivals of Coherence.

Physical review letters·2022
Same author

Engineering Photon Statistics in a Spinor Polariton Condensate.

Physical review letters·2022
Same author

Quantum fluids of light in all-optical scatterer lattices.

Nature communications·2021
Same author

Synthetic band-structure engineering in polariton crystals with non-Hermitian topological phases.

Nature communications·2020

Related Experiment Video

Updated: Jun 17, 2026

Propagating and Detecting an Infectious Molecular Clone of Maedi-visna Virus that Expresses Green Fluorescent Protein
08:49

Propagating and Detecting an Infectious Molecular Clone of Maedi-visna Virus that Expresses Green Fluorescent Protein

Published on: October 9, 2011

[Marfan's syndrome in Iceland.].

E O Einarsson, R Danielsen, H Sigurdsson

    Laeknabladid
    |January 13, 2010
    PubMed
    Summary

    Marfan

    Area of Science:

    • Genetics
    • Cardiology
    • Ophthalmology

    Context:

    • Marfan syndrome is a rare, autosomal dominant heritable connective tissue disorder affecting multiple systems.
    • Previous prevalence and clinical data for Marfan syndrome in Iceland were limited.

    Purpose:

    • To determine the prevalence and clinical characteristics of Marfan syndrome in Iceland.
    • To assess ocular, skeletal, and cardiovascular manifestations in diagnosed patients.

    Summary:

    • The study identified 17 definitive cases of Marfan syndrome among 22 evaluated patients, establishing a prevalence of 6.5/100,000 in Iceland.
    • Common findings included ocular (82%), cardiovascular (65%) with aortic root dilatation (53%), and skeletal abnormalities in all patients.
    • The clinical presentation aligns with international findings, confirming Marfan syndrome's presence and characteristics in Iceland.

    More Related Videos

    Environmental DNA Sampling from Whale-Watching Vessels for Cetacean Monitoring
    08:07

    Environmental DNA Sampling from Whale-Watching Vessels for Cetacean Monitoring

    Published on: April 10, 2026

    Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis
    07:56

    Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis

    Published on: June 10, 2022

    Related Experiment Videos

    Last Updated: Jun 17, 2026

    Propagating and Detecting an Infectious Molecular Clone of Maedi-visna Virus that Expresses Green Fluorescent Protein
    08:49

    Propagating and Detecting an Infectious Molecular Clone of Maedi-visna Virus that Expresses Green Fluorescent Protein

    Published on: October 9, 2011

    Environmental DNA Sampling from Whale-Watching Vessels for Cetacean Monitoring
    08:07

    Environmental DNA Sampling from Whale-Watching Vessels for Cetacean Monitoring

    Published on: April 10, 2026

    Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis
    07:56

    Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis

    Published on: June 10, 2022

    Impact:

    • Provides crucial epidemiological data on Marfan syndrome in Iceland.
    • Highlights the multi-systemic nature and typical clinical features of the disorder.
    • Informs clinical practice and genetic counseling for Marfan syndrome patients in the region.