scholarly journals Audiological findings of a patient with H syndrome: case report

2021 ◽  
Vol 37 (1) ◽  
Author(s):  
Diala Hussein ◽  
Büşra Altın ◽  
Münir Demir Bajin
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Hearing Aids ◽  
Auditory Brainstem Response ◽  
Pure Tone Audiometry ◽  
Auditory Brainstem ◽  
Sensorineural Hearing ◽  
Brainstem Response ◽  
The Right

Abstract Background H syndrome is an autosomal recessive disorder caused by mutations in SLC29A3. Hyperpigmentation, hypertrichosis, hyperglycemia, and hearing loss are some characteristics of this disorder, and it has a prevalence of < 1/1000. The aim of this report is to spread awareness among otologists, audiologists, and pediatricians about this syndrome and its audiological features. Case presentation An 8-year-old male with a diagnosed H syndrome registered to our clinic with a complaint of hearing loss. The patient was diagnosed with hearing loss in a different clinic using only the air-conducted click auditory brainstem response test which showed wave V at 60 dB nHL for the right ear and at 80 dB nHL for the left ear. The initially performed pure tone audiometry (PTA) test in our clinic revealed a bilateral asymmetric hearing loss with a moderate sensorineural hearing loss in the right ear and a profound mixed hearing loss in the left ear. The performed air conducted click auditory brainstem response (ABR) result showed wave V at 55 dB nHL for the right ear and at 70 dB nHL for the left ear. Then, the repeated PTA test revealed a mild-severe sensorineural sloping hearing loss in the right ear and a severe sensorineural hearing loss in the left ear. Conclusion Although hearing thresholds in H syndrome could be within normal limits in some patients, sensorineural hearing loss is an important characteristic feature for this syndrome. Sensorineural hearing loss could be progressive or of sudden onset and ranges from mild to profound. Thus, it must be taken into consideration to apply the audiological follow-up regularly and paying attention to the patient’s complaints; also, a regular follow-up for language development of children with H syndrome and for the hearing aids is advised.

scholarly journals Prevention of acquired sensorineural hearing loss in mice by in vivo Htra2 gene editing

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Xi Gu ◽  
Daqi Wang ◽  
Zhijiao Xu ◽  
Jinghan Wang ◽  
Luo Guo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Protective Effect ◽  
Hair Cell ◽  
Sensorineural Hearing Loss ◽  
Auditory Brainstem Response ◽  
Gene Editing ◽  
Auditory Brainstem ◽  
Sensorineural Hearing ◽  
Brainstem Response

Abstract Background Aging, noise, infection, and ototoxic drugs are the major causes of human acquired sensorineural hearing loss, but treatment options are limited. CRISPR/Cas9 technology has tremendous potential to become a new therapeutic modality for acquired non-inherited sensorineural hearing loss. Here, we develop CRISPR/Cas9 strategies to prevent aminoglycoside-induced deafness, a common type of acquired non-inherited sensorineural hearing loss, via disrupting the Htra2 gene in the inner ear which is involved in apoptosis but has not been investigated in cochlear hair cell protection. Results The results indicate that adeno-associated virus (AAV)-mediated delivery of CRISPR/SpCas9 system ameliorates neomycin-induced apoptosis, promotes hair cell survival, and significantly improves hearing function in neomycin-treated mice. The protective effect of the AAV–CRISPR/Cas9 system in vivo is sustained up to 8 weeks after neomycin exposure. For more efficient delivery of the whole CRISPR/Cas9 system, we also explore the AAV–CRISPR/SaCas9 system to prevent neomycin-induced deafness. The in vivo editing efficiency of the SaCas9 system is 1.73% on average. We observed significant improvement in auditory brainstem response thresholds in the injected ears compared with the non-injected ears. At 4 weeks after neomycin exposure, the protective effect of the AAV–CRISPR/SaCas9 system is still obvious, with the improvement in auditory brainstem response threshold up to 50 dB at 8 kHz. Conclusions These findings demonstrate the safe and effective prevention of aminoglycoside-induced deafness via Htra2 gene editing and support further development of the CRISPR/Cas9 technology in the treatment of non-inherited hearing loss as well as other non-inherited diseases.

Analysis of Click and Swept-Tone Auditory Brainstem Response Results for Moderate and Severe Sensorineural Hearing Loss

2020 ◽  
Vol 25 (6) ◽  
pp. 336-344
Author(s):  
Jingqian Tan ◽  
Jia Luo ◽  
Xin Wang ◽  
Yanbing Jiang ◽  
Xiangli Zeng ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Auditory Brainstem Response ◽  
Basilar Membrane ◽  
Auditory Brainstem ◽  
Sensorineural Hearing ◽  
Control Group ◽  
Hearing Sensitivity ◽  
Brainstem Response ◽  
Frequency Components

<b><i>Introduction:</i></b> Auditory brainstem response (ABR) is one of the commonly used methods in clinical settings to evaluate the hearing sensitivity and auditory function. The current ABR measurement usually adopts click sound as the stimuli. However, there may be partial ABR amplitude attenuation due to the delay characteristics of the cochlear traveling wave along the basilar membrane. To solve that problem, a swept-tone method was proposed, in which the show-up time of different frequency components was adjusted to compensate the delay characteristics of the cochlear basilar membrane; therefore, different ABR subcomponents of different frequencies were synchronized. <b><i>Methods:</i></b> The normal hearing group, moderate sensorineural hearing loss group, and severe sensorineural hearing loss group underwent click ABR and swept-tone ABR with different stimulus intensities. The latencies and amplitudes of waves I, III, and V in 2 detections were recorded. <b><i>Results:</i></b> It was found that the latency of each of the recorded I, III, and V waves detected by swept-tone ABR was shorter than that by click ABR in both the control group and experimental groups. In addition, the amplitude of each of the recorded I, III, and V waves, except V waves under 60 dB nHL in the moderate sensorineural hearing loss group, detected by swept-tone ABR was larger than that by click ABR. The results also showed that the swept-tone ABR could measure the visible V waves at lower stimulus levels in the severe sensorineural hearing loss group. <b><i>Conclusion:</i></b> Swept-tone improves the ABR waveforms and helps to obtain more accurate threshold to some extent. Therefore, the proposed swept-tone ABR may provide a new solution for better morphology of ABR waveform, which can help to make more accurate diagnosis about the hearing functionality in the clinic.

Acoustically evoked, short latency negative response in children with sensorineural hearing loss

2009 ◽  
Vol 124 (2) ◽  
pp. 141-146 ◽  
Author(s):  
A A Emara
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Auditory Brainstem Response ◽  
Auditory Brainstem ◽  
Short Latency ◽  
Sensorineural Hearing ◽  
Negative Response ◽  
Vestibular Evoked Myogenic Potential ◽  
Myogenic Potential ◽  
Brainstem Response

AbstractIntroduction:The auditory brainstem response consists of fast and slow waves. The acoustically evoked, short latency negative response is a large, negative deflection with a latency of 3 milliseconds which has been reported in patients with profound hearing loss. It may be of vestibular, particularly saccular, origin, as is the vestibular evoked myogenic potential.Purpose:To assess the presence of acoustically evoked, short latency negative responses in children with severe to profound sensorineural hearing loss.Materials and methods:Twenty-three children (46 ears) with sensorineural hearing loss underwent audiological evaluation and auditory brainstem response, vestibular evoked myogenic potential and caloric testing.Results:An acoustically evoked, short latency negative response was present in 30.43 per cent of ears and absent in 69.57 per cent. Vestibular evoked myogenic potentials were recorded in all ears in the former group, but in only 53.13 per cent in the latter group. Caloric testing was normal in 82.6 per cent of the total ears tested.Conclusion:The presence of an acoustically evoked, short latency negative response is dependent not on residual hearing but on normal saccular function. This response can be measured in patients who cannot contract their neck muscles.

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