Deafness, Progressive, With Stapes Fixation

Last update 01 Nov 2024

Basic Info

Synonyms

DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION, Deafness, Progressive, With Stapes Fixation, Progressive deafness with stapes fixation

+ [6]

Introduction

A hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).

100 Clinical Results associated with Deafness, Progressive, With Stapes Fixation

100 Translational Medicine associated with Deafness, Progressive, With Stapes Fixation

0 Patents (Medical) associated with Deafness, Progressive, With Stapes Fixation

Literatures (Medical) associated with Deafness, Progressive, With Stapes Fixation

22 Jul 2019·Case Reports in Genetics

A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

Author: Acharya, Anushree ; Schrauwen, Isabelle ; Vrabec, Jeffrey T. ; Leal, Suzanne M. ; Lindquist, Nathan R. ; Appelbaum, Eric N.

We performed exome sequencing to evaluate the underlying molecular cause of a patient with bilateral conductive hearing loss due to multiple ossicular abnormalities as well as symphalangism of the fifth digits. This leads to the identification of a novel heterozygous start codon variant in the NOG gene (c.2T>C:p.Met1?) that hinders normal translation of the noggin protein. Variants in NOG lead to a spectrum of otologic, digit, and joint abnormalities, a combination suggested to be referred to as NOG‐related‐symphalangism spectrum disorder (NOG‐SSD). Conductive hearing loss from such variants may stem from stapes footplate ankylosis, fixation of the malleoincudal joint, or fixation of the incus short process. In this case, the constellation of both stapes and incus fixation, an exceptionally tall stapes suprastructure, thickened long process of the incus, and enlarged incus body was encountered, leading to distinct challenges during otologic surgery to improve hearing thresholds. This case highlights multiple abnormalities to the ossicular chain in a patient with a start codon variant in NOG. We provide detailed imaging data on these malformations as well as surgical considerations and outcomes.

01 Oct 2018·Otology & NeurotologyQ2 · MEDICINE

Primary Endoscopic Stapes Surgery: Audiologic and Surgical Outcomes

Q2 · MEDICINE

Article

Author: Hunter, Jacob B ; Dedmon, Matthew M ; Tolisano, Anthony M ; Rivas, Alejandro ; Nassiri, Ashley M ; Yawn, Robert J ; Isaacson, Brandon

Objective:Evaluate outcomes following primary endoscopic stapes surgery.Study Design:Retrospective case series.Setting:Two tertiary otologic centers.Patients:Eighty-one ears with surgically confirmed stapes fixation.Interventions:Total endoscopic stapedotomy or stapedectomy.Main Outcome Measures:Surgical and audiologic outcomes.Results:Eighty-one subjects were included (60% women) with a median age of 47.6 years (range, 19.1–73.6 yr). Etiologies of hearing loss included otosclerosis (96.3%), stapedial ankylosis (2.5%), and congenital stapes fixation (1.2%). The median follow-up was 5.3 months (range, 1.2–50.4 mo). 74.1% required scutum removal, and the chorda tympani nerve was sacrificed in 7.4%. Two techniques were used: 51.9% underwent stapedectomy and 48.1% underwent stapedotomy (with use of laser, drill, or both in 74.4, 20.5, and 5.1% of cases, respectively). The median air-bone gap (ABG) improved from 31.3 dB preoperatively to 6.25 dB postoperatively at last follow-up (p < 0.0001). The ABG closed to less than 15 dB in 96.3% of patients and less than 10 dB in 84%. There were no instances of postoperative sensorineural hearing loss (defined as >15 dB change from baseline) or facial nerve injury. Postoperatively, 29.6% of patients reported dysgeusia, of which 8.3% was persistent at last follow-up. Postoperative disequilibrium was reported in 17.3% of cases, with 100% resolution at last follow-up. Comparison of the stapedotomy and stapedectomy groups revealed no significant differences in audiologic or surgical outcomes.Conclusions:Endoscopic stapedotomy and stapedectomy are effective techniques to manage stapes fixation resulting in a median postoperative ABG of 6.25 dB and ABG closure to within 10 dB in 84% of patients.

01 Apr 2016·Otology & NeurotologyQ2 · MEDICINE

Congenital Stapes Ankylosis in Children

Q2 · MEDICINE

Article

Author: Vincent, Robert ; Kamalski, Digna M A ; Bittermann, Arnold J N ; Wegner, Inge ; Grolman, Wilko

OBJECTIVETo evaluate surgical findings and hearing results in children undergoing middle ear surgery for congenital stapes ankylosis with or without other ossicular malformations (Teunissen and Cremers class I and class II malformations).STUDY DESIGNA nonrandomized, nonblinded case series of prospectively collected data.SETTINGA tertiary referral center.PATIENTSTwenty-eight consecutive pediatric patients who underwent 35 surgical procedures for congenital stapes ankylosis with or without other ossicular malformations and had available postoperative pure-tone audiometry.INTERVENTIONPrimary stapedotomy with vein graft interposition and reconstruction with a Teflon piston, bucket handle prosthesis or total ossicular replacement prosthesis.MAIN OUTCOME MEASURESPre- and postoperative audiometric evaluation using four-frequency (0.5, 1, 2, and 4 kHz) audiometry. Air-conduction thresholds, bone-conduction thresholds, and air-bone gaps (ABGs) were measured. Postoperative audiometry was performed at 3, 6, 9, 12, 18, and 24 months after surgery and at a yearly interval thereafter.RESULTSOverall, a postoperative ABG closure of 10 dB or less was achieved in 73% of class I cases and in 50% of class II cases. A postoperative ABG closure of 20 dB or less was achieved in 77% of class I cases and 67% of class II cases. Postoperative sensorineural hearing loss occurred in one class I case (4%) and none of the class II cases.CONCLUSIONStapedotomy is a safe and feasible treatment option in children with congenital stapes ankylosis.

Analysis

Perform a panoramic analysis of this field.

view full example data

AI Agents Built for Biopharma Breakthroughs

Accelerate discovery. Empower decisions. Transform outcomes.

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

Deafness, Progressive, With Stapes Fixation

Basic Info

Related

Analysis