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Related Concept Videos

Cardiovascular System Abnormal Findings II: Auscultation01:25

Cardiovascular System Abnormal Findings II: Auscultation

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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:
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The Auditory Ossicles01:11

The Auditory Ossicles

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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...
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Mitral Stenosis I: Introduction01:22

Mitral Stenosis I: Introduction

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Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
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Respiratory System Abnormal Finding II: Palpation and Auscultation01:31

Respiratory System Abnormal Finding II: Palpation and Auscultation

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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:
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Mitral Valve Prolapse I: Introduction01:27

Mitral Valve Prolapse I: Introduction

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IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
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Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

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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...
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Intrathecal Application of a Fluorescent Dye for the Identification of Cerebrospinal Fluid Leaks in Cochlear Malformation
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Middle ear abnormalities in Van Maldergem syndrome.

Emmy Verheij1,2, Henricus G X M Thomeer1,2, Frank A Pameijer3

  • 1Department of Otorhinolaryngology and Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.

American Journal of Medical Genetics. Part A
|October 15, 2016
PubMed
Summary

Van Maldergem syndrome (VMS) is a rare genetic disorder. This study identifies congenital middle ear malformations as a cause of hearing loss in VMS, suggesting bone conduction devices for treatment.

Keywords:
Van Maldergem syndromebone anchored hearing deviceconductive hearing losscongenital microtiamiddle ear malformation

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Area of Science:

  • Genetics
  • Otolaryngology
  • Medical Imaging

Background:

  • Van Maldergem syndrome (VMS) is a rare genetic disorder characterized by intellectual disability, facial malformations, and hand anomalies.
  • Previous reports linked VMS to conductive hearing impairment due to outer ear abnormalities like microtia and atresia.

Observation:

  • This report details a VMS patient with severe bilateral conductive hearing impairment.
  • Congenital malformations of the middle ear were identified as the primary cause of hearing loss.
  • High-resolution computed tomography (CT) and exploratory tympanotomy revealed the specific middle ear abnormalities.

Findings:

  • This is the first description of middle ear abnormalities in Van Maldergem syndrome.
  • The patient presented with severe conductive hearing impairment attributed to these congenital middle ear defects.

Implications:

  • The findings expand the understanding of VMS-related auditory complications.
  • Management strategies may need to consider middle ear involvement in VMS patients.
  • The severity of malformations and risk of facial nerve damage influenced the treatment decision, favoring a bone conduction device over ossicular chain reconstruction.