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 Experiment Videos

[Systematic neonatal screening for Duchenne muscular dystrophy].

C Dellamonica, J M Robert, J Cotte

    La Nouvelle Presse Medicale
    |April 21, 1979
    PubMed
    Summary

    Neonatal screening for Duchenne muscular dystrophy (DMD) via Creatine-Kinase (CK) blood tests can identify affected relatives early. This systematic approach aids genetic counseling and enables timely prenatal diagnosis for preventable cases.

    Related Concept Videos

    You might also read

    Related Articles

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

    Sort by
    Same author

    Impact of high-dose norepinephrine during intra-hospital damage control resuscitation of traumatic haemorrhagic shock: A propensity-score analysis.

    Injury·2019
    Same author

    Anesthetic activities provided by the French forward surgical team in Abidjan, Ivory Coast: Four-year retrospective analysis.

    Medecine et sante tropicales·2018
    Same author

    Damage control: Concept and implementation.

    Journal of visceral surgery·2017
    Same author

    Specific elements of thoracic wound management.

    Journal of visceral surgery·2017
    Same author

    [Global management of patients with ebola viral disease, experience of the Healthcare workers Treatment of Conakry, Guinea].

    Bulletin de la Societe de pathologie exotique (1990)·2016
    Same author

    Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease.

    Journal of thrombosis and haemostasis : JTH·2014

    Area of Science:

    • Biochemistry and Molecular Biology
    • Clinical Genetics
    • Neonatal Screening

    Context:

    • Duchenne muscular dystrophy (DMD) is a severe genetic disorder.
    • Early diagnosis is crucial for management and genetic counseling.
    • Existing diagnostic methods may not capture all at-risk neonates.

    Purpose:

    • To evaluate a systematic neonatal screening program for Duchenne muscular dystrophy (DMD).
    • To assess the efficacy of Creatine-Kinase (CK) activity measurement in neonatal blood spots for early DMD detection.
    • To explore the integration of DMD screening into existing newborn screening programs.

    Summary:

    • A neonatal screening program utilizing Creatine-Kinase (CK) blood level analysis in newborns is proposed for early Duchenne muscular dystrophy (DMD) identification.

    Related Experiment Videos

  • The bioluminescent reaction for CK evaluation is highly specific and accurate, ensuring reliable screening results.
  • This method allows for blood sample collection on paper, facilitating centralized laboratory analysis and integration with phenylketonuria screening.

    • Impact:

    • Facilitates early identification of affected relatives, potentially preventing 15% of DMD cases.
    • Enhances genetic counseling by providing timely information to families.
    • Increases the likelihood of utilizing prenatal diagnostic options, including sex determination and in utero blood sampling.