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

Genetic testing for hearing impairment.

V Topsakal1, G Van Camp, P Van de Heyning

  • 1Departement of Otorhinolaryngology, University Hospital Antwerp, UA, Belgium. vedat.topsakal@uza.be

B-ENT
|November 1, 2005
PubMed
Summary
This summary is machine-generated.

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

Metronome-guided cochlear implantation for slower and smoother insertions of lateral wall electrodes.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·2024
Same author

Efficacy and toxicity of Anatolian propolis on healthy nasal epithelial cells.

European review for medical and pharmacological sciences·2022
Same author

The superiority of Dexpanthenol or Vaseline as excipient in nasal formulations.

European review for medical and pharmacological sciences·2022
Same author

Search for a genetic cause in children with unilateral isolated microtia and congenital aural atresia.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·2022
Same author

Heart failure with preserved ejection fraction or non-cardiac dyspnea in paroxysmal atrial fibrillation: The role of left atrial strain.

International journal of cardiology·2020
Same author

Prediction of the Cochlear Implant Electrode Insertion Depth: Clinical Applicability of two Analytical Cochlear Models.

Scientific reports·2020
Same journal

Listeria Monocytogenes: an uncommon pathogen of cervical necrotizing fasciitis.

B-ENT·2018
Same journal

A case of a sinonasal adenocarcinoma with metaplastic ossification.

B-ENT·2018
Same journal

Nasopharyngeal thyroid-like low-grade papillary adenocarcinoma.

B-ENT·2018
Same journal

Could nasal septal deformities type 5 and 6 be a predictive factor of the indi- vidual genetic predilection for the onset of an acute coronary syndrome?.

B-ENT·2018
Same journal

Predictive factors of speech understanding in adults with cochlear implants.

B-ENT·2018
Same journal

Effects of caffeic acid phenethyl ester on cisplatin ototoxicity.

B-ENT·2018
See all related articles

Genetic testing for hereditary hearing impairment (HHI) can aid diagnosis. This article reviews clinical indications for HHI genetic testing and common types in Belgium, bridging research and clinical practice.

Area of Science:

  • Otolaryngology
  • Medical Genetics
  • Molecular Biology

Background:

  • Genetic testing increasingly identifies causes of hearing impairment, aiding medical diagnosis.
  • A knowledge gap exists between rapid genetic discoveries for hereditary hearing impairment (HHI) and clinical otology due to low clinical differentiation of HHIs.
  • Keeping pace with scientific advancements in HHI genetics is crucial for clinical application.

Purpose of the Study:

  • To outline clinical indications for genetic testing in hereditary hearing impairment (HHI).
  • To describe common hereditary hearing impairments encountered in Belgium.
  • To highlight recent scientific advancements, molecular aspects, and challenges in HHI.

Main Methods:

  • Literature review and clinical case overview.

Related Experiment Videos

  • Enumeration of clinical indications for genetic testing in HHI.
  • Summary of frequently encountered HHIs in Belgium, including syndromal forms.

    • Main Results:

    • The article details various HHI types: bilateral congenital, late-onset progressive high-frequency, progressive bilateral cochleo-vestibular deficit, and progressive low-frequency hearing loss.
    • Syndromal forms of HHI are summarized, with information on genetic test availability.
    • Recent scientific interests and molecular biological aspects of HHI are discussed.

    Conclusions:

    • Genetic testing offers diagnostic value for patients with hearing impairment.
    • Bridging the gap between genetic research and clinical practice is essential for managing hereditary hearing impairment (HHI).
    • Understanding HHI types, genetic testing indications, and molecular aspects improves clinical management and research.