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

Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

404
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
404
Human Genetics01:28

Human Genetics

1.9K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.9K
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

3.1K
Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
3.1K
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

671
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...
671
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

16.6K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
16.6K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

10.0K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
10.0K

You might also read

Related Articles

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

Sort by
Same author

Combining music and life story to enhance participation in family interaction in semantic dementia: a longitudinal study of one family's experience.

Arts & health·2024
Same author

Using longitudinal qualitative research to explore the experience of receiving and using augmentative and alternative communication.

International journal of language & communication disorders·2023
Same author

Evaluating the usability of a co-designed power assisted exercise graphical user interface for people with stroke.

Journal of neuroengineering and rehabilitation·2023
Same author

"I Assumed It Would Be Somebody Who Had a Stroke That Was Doing This": Views of Stroke Survivors, Caregivers, and Health Professionals on Tailoring a Relaxation and Mindfulness Intervention.

Healthcare (Basel, Switzerland)·2023
Same author

Pulmonary Hypertension and Measurement of Exercise Capacity Remotely: Evaluation of the 1-min Sit-to-Stand Test (PERSPIRE) - a cohort study.

ERJ open research·2023
Same author

Measuring communication as a core outcome in aphasia trials: Results of the ROMA-2 international core outcome set development meeting.

International journal of language & communication disorders·2022

Related Experiment Video

Updated: Mar 25, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.5K

Genetic testing in Marfan syndrome.

Anne H Child1, Jose A Aragon-Martin2, Karen Sage3

  • 1Reader in Cardiovascular Genetics in the Cardiovascular and Cell Sciences Research Institute, St George's, University of London, London SW17 0RE.

British Journal of Hospital Medicine (London, England : 2005)
|February 24, 2016
PubMed
Summary

Genetic testing enables quick Marfan syndrome diagnosis for managing eye, heart, and skeletal issues. This allows for prenatal and postnatal diagnosis, with preimplantation genetic diagnosis ensuring unaffected pregnancies.

More Related Videos

Biological Preparation and Mechanical Technique for Determining Viscoelastic Properties of Zonular Fibers
06:39

Biological Preparation and Mechanical Technique for Determining Viscoelastic Properties of Zonular Fibers

Published on: December 16, 2021

2.4K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.4K

Related Experiment Videos

Last Updated: Mar 25, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.5K
Biological Preparation and Mechanical Technique for Determining Viscoelastic Properties of Zonular Fibers
06:39

Biological Preparation and Mechanical Technique for Determining Viscoelastic Properties of Zonular Fibers

Published on: December 16, 2021

2.4K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.4K

Area of Science:

  • Medical Genetics
  • Reproductive Medicine

Background:

  • Marfan syndrome is a genetic disorder affecting connective tissue.
  • Early diagnosis is crucial for managing associated cardiovascular, ocular, and skeletal complications.

Purpose of the Study:

  • To highlight the role of genetic testing in Marfan syndrome diagnosis and management.
  • To discuss the application of genetic testing in prenatal and postnatal diagnosis.
  • To emphasize preimplantation genetic diagnosis for preventing affected offspring.

Main Methods:

  • Review of current genetic testing methodologies for Marfan syndrome.
  • Analysis of diagnostic applications in family planning.
  • Evaluation of preimplantation genetic diagnosis efficacy.

Main Results:

  • Genetic testing facilitates rapid and accurate diagnosis of Marfan syndrome.
  • Identified mutations serve as a basis for diagnosing offspring.
  • Preimplantation genetic diagnosis is presented as a highly effective method for ensuring unaffected pregnancies.

Conclusions:

  • Genetic testing is a cornerstone in the timely diagnosis and comprehensive management of Marfan syndrome.
  • It empowers families with reproductive choices, including the prevention of Marfan syndrome in offspring.
  • Preimplantation genetic diagnosis offers a definitive solution for unaffected pregnancies in at-risk families.