Polygenic Inheritance of Otosclerosis

1976 ◽  
Vol 85 (2) ◽  
pp. 281-285 ◽  
Author(s):  
Judith C. Mendlowitz ◽  
Kurt Hirschhorn
Keyword(s):  
Hearing Loss ◽  
General Population ◽  
Mathematical Analysis ◽  
Conductive Hearing Loss ◽  
Extended Family ◽  
Large Family ◽  
Polygenic Inheritance ◽  
Increased Risk ◽  
The Family ◽  
Conductive Hearing

A large family has been studied and its pedigree traced for six generations. Fifteen relatives are known to have had otosclerosis. Of these, the only six individuals who developed this disease before the age of twenty were offspring of second-cousin marriages. Other children in the extended family developed the disease later and may have had somewhat less severe symptoms. The original hypothesis that the severe, early onset cases occurred among those homozygous for a monogenic trait became improbable on mathematical analysis. We conclude that the inheritance of otosclerosis in this family is polygenic and probably multifactorial. Individuals marrying within the family have a greatly increased risk of giving birth to children who will develop otosclerosis early, and perhaps severely. Those who marry outside the family have a greatly decreased risk. They do, of course, have a higher risk than the general population of having children who will at some point experience a conductive hearing loss.

scholarly journals Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism

2020 ◽  
Vol 40 (6) ◽  
Author(s):  
Zhuang-Zhuang Yuan ◽  
Fang Yu ◽  
Jie-Yuan Jin ◽  
Zi-Jun Jiao ◽  
Ju-Yu Tang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Conductive Hearing Loss ◽  
Genetic Diagnosis ◽  
Chinese Patient ◽  
Chinese Family ◽  
Autosomal Dominant Disorder ◽  
Genetic Lesion ◽  
Whole Exome ◽  
The Family ◽  
Conductive Hearing

Abstract Proximal symphalangism (SYM1) is an autosomal dominant disorder manifested by ankylosis of the proximal interphalangeal joints of fingers, carpal and tarsal bone fusion, and conductive hearing loss in some cases. Herein, we clinically diagnosed a Chinese patient with fusions of the bilateral proximal interphalangeal joints in the 2–5 digits without conductive hearing loss. Family history investigation revealed that his mother and grandfather also suffered from SYM1. Whole exome sequencing was performed to detect the genetic lesion of the family. The candidate gene variants were validated by Sanger sequencing. By data filtering, co-segregation analysis and bioinformatics analysis, we highly suspected that an unknown heterozygous frameshift variant (c.635_636insG, p.Q213Pfs*57) in NOG was responsible for the SYM1 in the family. This variant was predicted to be deleterious and resulted in a prolonged protein. This finding broadened the spectrum of NOG mutations associated with SYM1 and contributed to genetic diagnosis and counseling of families with SYM1.

scholarly journals The Use of Lasers in Stapes Surgery

2020 ◽  
Vol 100 (1_suppl) ◽  
pp. 73S-76S
Author(s):  
Rishi Srivastava ◽  
Waisum Cho ◽  
Neil Fergie
Keyword(s):  
Hearing Loss ◽  
Hearing Aids ◽  
Conductive Hearing Loss ◽  
Disease Process ◽  
Stapes Surgery ◽  
Yttrium Aluminium Garnet ◽  
Ktp Laser ◽  
Thulium Laser ◽  
Increased Risk ◽  
Conductive Hearing

Objectives: Otosclerosis is a disease process that usually starts around the oval window, causing fixation of the stapes, resulting in conductive hearing loss. Treatment of the conductive hearing loss caused by otosclerosis consists of either rehabilitation with hearing aids or performing surgery. Given the risks of hearing impairment and vertigo associated with the surgery, there has been a desire to advance the practice to minimize the complications. The so-called “non-contact” or “no touch” techniques with the use of various lasers are in current practice. This review article will cover the surgical aspects, the theory behind laser and the various types used in stapes surgery. It will also review the evidence of laser versus conventional stapes surgery and the comparison of different laser types. Methods: A literature search up to December 2019 was performed using Pubmed and a nonsystematic review of appropriate articles was undertaken. Keywords used were stapes, surgery, laser, stapedectomy, and stapedotomy. Results: Overall, there is no evidence to say laser fenestration is better than conventional fenestration techniques; however, with the micro drill, there is an increased risk of footplate fracture and sensorineural hearing loss. There is an increased risk of tinnitus with the laser compared to conventional techniques. Studies have favored the CO2 laser over potassium titanyl phosphate (KTP) and erbium-doped yttrium aluminium garnet (Erbium-YAG) lasers for postoperative closure of the air-bone gap; and KTP laser has less thermal, mechanical, and sound effects compared with the thulium and carbon dioxide (CO2) lasers. There is an increased risk if inner ear complications with the thulium laser. Conclusions: It can be deduced that theoretically and practically, the thulium laser is less safe compared to the KTP and CO2 lasers. The choice of laser used depends on the surgeon’s preference, as well as availability, cost, side effects profile, as well as ease of use.

scholarly journals Cone-Beam CT compared to Multi-slice CT for the diagnostic analysis of conductive hearing loss, a pilot study

2016 ◽  
Vol 130 (S3) ◽  
pp. S188-S188
Author(s):  
Pieter Kemp ◽  
Jiska van Stralen ◽  
Pim de Graaf ◽  
Erwin Berkhout ◽  
Jan Wolff ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Pilot Study ◽  
Conductive Hearing Loss ◽  
Cone Beam Ct ◽  
Cone Beam ◽  
Diagnostic Analysis ◽  
Conductive Hearing

Long-term Compliance and Satisfaction With Percutaneous Bone Conduction Devices in Patients With Congenital Unilateral Conductive Hearing Loss

2015 ◽  
Vol 36 (5) ◽  
pp. 826-833 ◽  
Author(s):  
Rik C. Nelissen ◽  
Emmanuel A. M. Mylanus ◽  
Cor W. R. J. Cremers ◽  
Myrthe K. S. Hol ◽  
Ad F. M. Snik
Keyword(s):  
Hearing Loss ◽  
Conductive Hearing Loss ◽  
Bone Conduction ◽  
Conductive Hearing

scholarly journals Successive ipsilateral surgery of Vibrant Soundbridge and Bonebridge devices for congenital bilateral conductive hearing loss: a case report

2020 ◽  
Vol 48 (12) ◽  
pp. 030006052097228
Author(s):  
Yujie Liu ◽  
Ran Ren ◽  
Shouqin Zhao
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Conductive Hearing Loss ◽  
Vibrant Soundbridge ◽  
Patient’S Experience ◽  
Hearing Devices ◽  
Conductive Hearing ◽  
Subjective Outcomes

The Bonebridge and Vibrant Soundbridge systems are semi-implanted hearing devices, which have been widely applied in patients with congenital conductive hearing loss. However, comparison between these two hearing devices is rare, especially in the same patient. We report a 23-year-old man who underwent successive implantation of Vibrant Soundbridge and Bonebridge devices in the same ear because of dysfunction of the Vibrant Soundbridge. We provide insight on the patient’s experience and compare the audiological and subjective outcomes of satisfaction.

Unexplained Conductive Hearing Loss

1980 ◽  
Vol 73 (3) ◽  
pp. 335-338 ◽  
Author(s):  
FRED H. BESS ◽  
G. W. MILLER ◽  
MICHAEL E. GLASSCOCK ◽  
GENE W. BRATT
Keyword(s):  
Hearing Loss ◽  
Conductive Hearing Loss ◽  
Conductive Hearing

Ossicular Discontinuity and Exostoses in Proteus Syndrome: A Case Report

2005 ◽  
Vol 114 (3) ◽  
pp. 242-246
Author(s):  
Joni K. Doherty ◽  
Dennis R. Maceri
Keyword(s):  
Hearing Loss ◽  
High Frequency ◽  
Conductive Hearing Loss ◽  
Ossicular Chain ◽  
Typical Feature ◽  
Proteus Syndrome ◽  
Frequency Range ◽  
Pure Tone Average ◽  
Ossicular Chain Reconstruction ◽  
Conductive Hearing

Proteus syndrome (PS) is a rare hamartomatous disorder characterized by mosaic overgrowth of multiple tissues that manifests early in life and is progressive. The presence of unilateral external auditory canal exostoses in a patient who is not a swimmer or surfer is suggestive of PS. However, hearing loss is not a typical feature. Here, we describe exostoses and ossicular discontinuity with conductive hearing loss in a patient with PS. The treatment consisted of canalplasty and ossicular chain reconstruction. A postoperative reduction was demonstrated in the patient's air-bone gap, from 21 dB to 13 dB for the pure tone average (four frequencies) and from 41 dB to 15 dB in the high-frequency range (6,000 to 8,000 Hz). Causes of ossicular discontinuity are discussed. Routine annual audiometric and otolaryngological evaluation should be considered in all patients with temporal bone inyolvement of PS.

Exploratory Tympanotomy Revealing Incus Discontinuity and Stapedial Otosclerosis as a Cause of Conductive Hearing Loss

2006 ◽  
Vol 27 (4) ◽  
pp. 466-468 ◽  
Author(s):  
Anita Jeyakumar ◽  
Todd M. Brickman ◽  
Kim Murray ◽  
Paul Dutcher
Keyword(s):  
Hearing Loss ◽  
Conductive Hearing Loss ◽  
Conductive Hearing
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