Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family

2015 ◽  
Vol 170 (2) ◽  
pp. 540-543 ◽  
Author(s):  
Makanko Komara ◽  
Anne John ◽  
Jehan Suleiman ◽  
Bassam R. Ali ◽  
Lihadh Al-Gazali
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Syndrome Type

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

2006 ◽  
Vol 121 (2) ◽  
pp. 203-211 ◽  
Author(s):  
Inga Ebermann ◽  
Hendrik P. N. Scholl ◽  
Peter Charbel Issa ◽  
Elvir Becirovic ◽  
Jürgen Lamprecht ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Usher Syndrome ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Novel Gene ◽  
Usher Syndrome Type

scholarly journals Characteristics of sensorineural hearing loss secondary to inner ear acoustic trauma

2008 ◽  
Vol 136 (5-6) ◽  
pp. 221-225
Author(s):  
Slobodan Spremo ◽  
Zdenko Stupar
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Hearing Threshold ◽  
Acoustic Trauma ◽  
Sensorineural Hearing ◽  
Cochlear Damage ◽  
Type 3 ◽  
Trauma Group

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.

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss

2005 ◽  
Vol 125 (11) ◽  
pp. 1189-1194 ◽  
Author(s):  
Yoshihiro Noguchi ◽  
Takatoshi Yashima ◽  
Akio Hatanaka ◽  
Masamichi Uzawa ◽  
Michio Yasunami ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Autosomal Dominant ◽  
Low Frequency ◽  
Wolfram Syndrome ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Japanese Family

Sensorineural Hearing Loss-A Common Finding in Early-Onset Type 2 Diabetes Mellitus

2012 ◽  
Vol 18 (4) ◽  
pp. 549-557 ◽  
Author(s):  
Israel Lerman-Garber ◽  
Daniel Cuevas-Ramos ◽  
Samantha Valdés ◽  
Lorena Enríquez ◽  
Marlette Lobato ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Early Onset ◽  
Sensorineural Hearing ◽  
Common Finding ◽  
Onset Type

scholarly journals Association between Statin Use and Sensorineural Hearing Loss in Type 2 Diabetic Patients: A Hospital-Based Study

2021 ◽  
Vol 14 (11) ◽  
pp. 1076
Author(s):  
Hye-Won Han ◽  
Jeong Yee ◽  
Yoon-Hee Park ◽  
Hye-Sun Gwak
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Diabetic Patients ◽  
Protective Effects ◽  
Type 2 Diabetic Patients ◽  
Type 2 Diabetic ◽  
Age And Sex ◽  
Statin Use

Background: Statins have emerged as protective agents against sensorineural hearing loss (SNHL) associated with dyslipidemia, but the effects of statins on SNHL are not consistent. The purpose of this study was to investigate the association between statin use and the risk of SNHL using a hospital cohort. Methods: This nested case-control study included type 2 diabetic patients over the age of 18 years without a history of hearing loss. Of these, 1379 patients newly diagnosed with SNHL or tinnitus were classified as cases, and 5512 patients matched to the cases based on age, sex, and index year were classified as controls. Chi-squared tests were used to compare categorical variables between the two groups. Odds ratios (ORs) and adjusted odds ratios (AOR) were calculated from univariate and multivariable unconditional logistic regression analyses, respectively. Results: There was a significant difference in the prevalence of statin use between the cases and controls (53.7% vs. 61.2%, respectively; p < 0.001). The use of statins in type 2 diabetic patients significantly reduced the risk of SNHL or tinnitus by 24.8% (95% CI 14.2–34.1%, p < 0.001) after controlling for confounders. Similar results were found for the association between statin use and SNHL (AOR = 0.706; 95% CI 0.616–0.811, p < 0.001). The protective effects of statins against SNHL were consistent regardless of age and sex. Conclusion: The use of statins for type 2 diabetic patients was significantly associated with a reduced risk of SNHL, regardless of age and sex. Further studies are needed, especially large cohort studies, to evaluate the long-term protective effects of statins.

scholarly journals Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

2017 ◽  
Vol 06 (03) ◽  
pp. 181-185 ◽  
Author(s):  
D. Melis ◽  
A. D'Amico ◽  
G. Cappuccio ◽  
G. Auletta ◽  
P. Vassallo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Cytomegalovirus Infection ◽  
Sensorineural Hearing ◽  
Congenital Cytomegalovirus Infection ◽  
Congenital Cytomegalovirus ◽  
Ear Malformations ◽  
Incomplete Partition ◽  
Prompt Diagnosis

AbstractSensorineural hearing loss (SNHL) is a common defect with a multifactorial etiology. Congenital cytomegalovirus infection (cCMV) is the most common infectious cause, and its early detection allows a prompt pharmacological treatment that can improve hearing prognosis. In a consistent percentage of profound SNHL, genetic causes and/or inner ear malformations are involved; their prompt diagnosis might change therapeutic options. This study reports a case of a 3- year-old female patient with symptomatic cCMV infection who also exhibits developmental delay, dysmorphic facial features, bilateral hearing loss, and cochlear incomplete partition, type 2, in 7q21.3 deletion. This deletion includes the genes DLX5 and DLX6, which could be the candidate genes for the ear malformation named incomplete partition, type 2.

Hearing loss and Waardenburg's syndrome: Implications for genetic counselling

1990 ◽  
Vol 104 (2) ◽  
pp. 97-103 ◽  
Author(s):  
Valerie Newton
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Genetic Counselling ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Bilateral Sensorineural Hearing Loss ◽  
Asymmetric Configuration

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.

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