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

The Auditory Ossicles01:11

The Auditory Ossicles

The auditory ossicles of the middle ear transmit sounds from the air as vibrations to the fluid-filled cochlea. The auditory ossicles consist of two malleus (hammer) bones, two incus (anvil) bones, and two stapes (stirrups), one on each side. These bones develop during the fetal stage and are the ones to ossify first. They are fully mature at birth and do not grow afterward.
The aptly named stapes look very much like a stirrup. The three ossicles are unique to mammals, and each plays a role in...
Respiratory System Abnormal Finding II: Palpation and Auscultation01:31

Respiratory System Abnormal Finding II: Palpation and Auscultation

In assessing respiratory abnormalities, palpation and auscultation are critical tools for detecting and interpreting various pathophysiological changes. These techniques provide insight into underlying disorders by evaluating tactile sensations and sounds produced by the respiratory system.
Palpation Findings
During a respiratory assessment, palpation can reveal several vital abnormalities:
Cardiovascular System Abnormal Findings II: Auscultation01:25

Cardiovascular System Abnormal Findings II: Auscultation

Auscultation, an essential part of a heart examination, is done using a stethoscope. It provides crucial information about heart function and possible heart problems. Due to heart problems, abnormal sounds can be heard during systole or diastole. These sounds include S3 and S4 gallops, opening snaps, systolic clicks, and murmurs.
Abnormal Heart Sounds
Gallops:
Esophageal Achalasia01:27

Esophageal Achalasia

Esophageal achalasia is a chronic neurogenic disorder characterized by impaired relaxation of the lower esophageal sphincter (LES) and absent or ineffective peristalsis in the distal esophagus. This leads to a functional obstruction without a physical blockage, despite significant disruption of esophageal motility.EtiologyAchalasia is caused by degeneration of the myenteric (Auerbach's) plexus, specifically the loss of inhibitory ganglion cells that produce vasoactive intestinal peptide (VIP)...

You might also read

Related Articles

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

Sort by
Same author

Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization.

Neurosurgical review·2019
Same author

Unresolved questions regarding human hereditary deafness.

Oral diseases·2016
Same author

Progressive irreversible hearing loss is caused by stria vascularis degeneration in an Slc26a4-insufficient mouse model of large vestibular aqueduct syndrome.

Neuroscience·2015
Same author

Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life.

Clinical genetics·2014
Same author

A comparison of screening methods in two early phase oral leukoplakia clinical trials.

Oral diseases·2012
Same author

The role of inhibitor of DNA-binding (Id1) in hyperproliferation of keratinocytes: the pathological basis for middle ear cholesteatoma from chronic otitis media.

Cell proliferation·2010
Same journal

Pathology quiz case 2.

Archives of otolaryngology--head & neck surgery·2014
Same journal

Pathology quiz case 1.

Archives of otolaryngology--head & neck surgery·2014
Same journal

Radiology quiz case 1: diagnosis.

Archives of otolaryngology--head & neck surgery·2013
Same journal

Pair of red and green macaws.

Archives of otolaryngology--head & neck surgery·2013
Same journal

Pathology quiz case 2: diagnosis.

Archives of otolaryngology--head & neck surgery·2013
Same journal

About this journal.

Archives of otolaryngology--head & neck surgery·2013
See all related articles

Related Experiment Video

Updated: Jun 28, 2026

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis (ALS)
12:43

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis (ALS)

Published on: February 22, 2011

Auditory dysfunction in Stickler syndrome.

Y M Szymko-Bennett1, M A Mastroianni, L I Shotland

  • 1Hearing Section, Neuro-Otology Branch, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

Archives of Otolaryngology--Head & Neck Surgery
|September 15, 2001
PubMed
Summary
This summary is machine-generated.

Stickler syndrome can cause sensorineural hearing loss, often affecting high frequencies. Hypermobile middle ear systems are a novel finding, aiding in the diagnosis of this hereditary progressive arthro-ophthalmopathy.

More Related Videos

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
09:44

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

Published on: January 26, 2016

Research Application of Laser-Induced Shock Wave for Studying Blast-Induced Cochlear Injury
05:44

Research Application of Laser-Induced Shock Wave for Studying Blast-Induced Cochlear Injury

Published on: March 1, 2024

Related Experiment Videos

Last Updated: Jun 28, 2026

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis (ALS)
12:43

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis (ALS)

Published on: February 22, 2011

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
09:44

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

Published on: January 26, 2016

Research Application of Laser-Induced Shock Wave for Studying Blast-Induced Cochlear Injury
05:44

Research Application of Laser-Induced Shock Wave for Studying Blast-Induced Cochlear Injury

Published on: March 1, 2024

Area of Science:

  • Genetics and Audiology
  • Ophthalmology

Background:

  • Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a genetic disorder affecting connective tissues.
  • Hearing loss is a known manifestation, but its characteristics and diagnostic utility require further investigation.

Purpose of the Study:

  • To characterize the hearing loss in Stickler syndrome.
  • To explore potential mechanisms of hearing impairment.
  • To assess the auditory phenotype's value in differential diagnosis.

Main Methods:

  • A multifamily study involving 46 individuals from 29 families with Stickler syndrome.
  • Comprehensive audiological and otolaryngological examinations, including audiometry and immittance testing.
  • Advanced tests like otoacoustic emissions, auditory brainstem response, and temporal bone CT on a subset of participants.

Main Results:

  • Adults most commonly exhibited mild, high-frequency sensorineural hearing loss, similar to age-related changes.
  • Hypermobile middle ear systems (Type A(D) tympanograms) were identified in 46% of affected individuals.
  • No inner ear malformations were detected via CT scans.

Conclusions:

  • Hypermobile middle ear systems are a novel diagnostic feature for Stickler syndrome.
  • The mild, non-progressive sensorineural hearing loss in type I Stickler syndrome differs from types II and III, aiding differential diagnosis.
  • Auditory findings, particularly middle ear system characteristics, are valuable for diagnosing Stickler syndrome and related disorders.