scholarly journals Mutations in the Wolfram Syndrome Type 1 Gene (WFS1) Define a Clinical Entity of Dominant Low-Frequency Sensorineural Hearing Loss

2003 ◽  
Vol 129 (4) ◽  
pp. 411 ◽  
Author(s):  
Marci M. Lesperance ◽  
James W. Hall ◽  
Theresa B. San Agustin ◽  
Suzanne M. Leal
2005 ◽  
Vol 125 (11) ◽  
pp. 1189-1194 ◽  
Author(s):  
Yoshihiro Noguchi ◽  
Takatoshi Yashima ◽  
Akio Hatanaka ◽  
Masamichi Uzawa ◽  
Michio Yasunami ◽  
...  

1990 ◽  
Vol 104 (2) ◽  
pp. 97-103 ◽  
Author(s):  
Valerie Newton

AbstractTen families in which there were 79 individuals affected by Waardenburg's syndrome were examined for penetrance of sensorineural hearing loss and expressivity of the gene. There were 47 with Waardenburg syndrome Type 1 and 32 with Waardenburg syndrome Type II. Penetrance of senorineural hearing loss was calculated after exclusion of the probands and was found not to be significantly different between each syndrome type but to show marked interfamilial variation. A bilateral sensorineural hearing loss was present more frequently than unilateral with the proportion varying between families. Certain audiometric shapes were found to recur in the syndrome but, apart from possibly one asymmetric configuration, seem to have been described also in other conditions. The degree of hearing loss was very variable within and between families. The implications for genetic counselling are discussed and the advantages of basing risk factors upon individual families rather than syndrome types emphasized.


2015 ◽  
Vol 136 (2) ◽  
pp. 159-163 ◽  
Author(s):  
Ah Ra Jung ◽  
Myung Gu Kim ◽  
Sung Su Kim ◽  
Sang Hoon Kim ◽  
Seung Geun Yeo

2008 ◽  
Vol 136 (5-6) ◽  
pp. 221-225
Author(s):  
Slobodan Spremo ◽  
Zdenko Stupar

INTRODUCTION Cochlear damage secondary to exposure to acoustic trauma is the consequence of the acoustic energy effects on the hearing cells in Korti's organ. OBJECTIVE The objective was to assess the correlation between the degree of sensorineural hearing loss and the type of audiogram registered in acoustic trauma exposed patients. METHOD We analyzed 262 audiograms of patients exposed to acoustic trauma in correlation to 146 audiograms of patients with cochlear damage and hearing loss not related to acoustic trauma. "A" group consisted of acoustic trauma cases, while "B" group incorporated cases with hearing loss secondary to cochlear ischaemia or degeneration. All audiograms were subdivided with regard to the mean hearing loss into three groups: mild (21-40 dB HL), moderate (41-60 dB HL) and severe (over 60 dB HL) hearing loss. Based on audiogram configuration five types of audiogram were defined: type 1 flat; type 2 hearing threshold slope at 2 kHz, type 3 hearing threshold slope at 4 kHz; type 4 hearing threshold notch at 2 kHz; type 5 notch at 4 kHz. RESULTS Mild hearing loss was recorded in 163 (62.2%) ears in the acoustic trauma group, while in 78 (29.8%) ears we established moderate hearing loss with the maximum threshold shift at frequencies ranging from 4 kHz to 8 kHz. The least frequent was profound hearing loss, obtained in 21 (8%) audiograms in the acoustic trauma group. Characteristic audiogram configurations in the acoustic trauma patient group were: type 1 (N=66; 25.2%), type 2 (N=71; 27.1%), and type 3 (N=68; 25.9%). Audiogram configurations were significanly different in the acoustic trauma group in comparison to the cochlear ischaemia group of patients (p=0.0005). CONCLUSION Cochlear damage concomitant to acoustic trauma could be assessed by the audiogram configuration. Preserved hearing acuity at low and mild frequency range indicates the limited damage to the hearing cells in Korti's organ in the apical cochlear turn.


2018 ◽  
Vol 39 (10) ◽  
pp. e950-e955
Author(s):  
Chi Kyou Lee ◽  
Jong Bin Lee ◽  
Kye Hoon Park ◽  
Ho Yun Lee ◽  
Mi-Jin Choi ◽  
...  

1991 ◽  
Vol 101 (6) ◽  
pp. 643???647 ◽  
Author(s):  
Takashi Fukaya ◽  
Yasuya Nomura ◽  
Takanori Fukushima

Sign in / Sign up

Export Citation Format

Share Document