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Sensorineural deafness - Top 30 Publications

The Protean Neuropsychiatric and Vestibuloauditory Manifestations of Neurosarcoidosis.

A rare subset of sarcoidosis, neurosarcoidosis, is reported to occur in 5-7% of sarcoid patients and can manifest in a variety of ways. The most common are facial paralysis and optic neuritis, less commonly causing cochleovestibulopathy, blindness, anosmia, and other cranial nerve (CN) palsies. The sensory deficit may be severe and psychiatric symptoms may result from the effects of the disease or steroid treatment. Although MRI-compatible cochlear implants are now available, concerns about the feasibility of recoverable hearing with cochlear implantation in these patients as well as the practical difficulty of disease monitoring due to implant artifact must be considered.

The Role of High Dose Intratympanic Dexamethasone as Salvage Therapy for Idiopathic Sudden Sensorineural Hearing Loss.

The aim of this study was to assess the efficacy of a single high dose intratympanic (IT) dexamethasone (DEX) as salvage therapy for idiopathic sudden sensorineural hearing loss (ISSNHL) after unsuccessful treatment with oral corticosteroid (CS).

Prevalence and characteristics of hearing loss in patients diagnosed with Bell's Palsy.

To assess the incidence of hearing loss in patients diagnosed with Bell's palsy (BP) and to characterize its clinical features.

Cardiac and renal dysfunction is associated with progressive hearing loss in patients with Fabry disease.

Fabry disease (FD) is an X-linked recessive hereditary lysosomal storage disorder which results in the accumulation of globotriaosylceramid (Gb3) in tissues of kidney and heart as well as central and peripheral nervous system. Besides prominent renal and cardiac organ involvement, cochlear symptoms like high-frequency hearing loss and tinnitus are frequently found with yet no comprehensive data available in the literature.

Electrocardiogram Screening in Children with Congenital Sensorineural Hearing Loss: Prevalence and Follow-up of Abnormalities.

Objective The purpose is to determine the prevalence of electrocardiogram (ECG) abnormalities, including borderline and prolonged QT, among screened children with sensorineural hearing loss (SNHL) and to analyze their subsequent medical workup. Study Design Institutional Review Board-approved case series with chart review. Setting Tertiary academic center. Subjects and Methods Cases from 1996 to 2014 involving pediatric patients (N = 1994) with SNHL were analyzed. Abnormal ECGs were categorized as borderline/prolonged QT or other. A board-certified pediatric cardiologist retrospectively determined the clinical significance of ECG changes. For follow-up analysis, children with heart disease, known syndromes, or inaccessible records were excluded. Results Among 772 children who had ECGs, 215 (27.8%) had abnormal results: 35 (4.5%) with QT abnormalities and 180 (23.3%) with other abnormalities. For children with QT abnormalities meeting inclusion criteria (n = 30), follow-up measures included cardiology referral (46.6%), repeat ECG by ear, nose, and throat (ENT) specialist (20%), clearance by ENT specialist with clinical correlation and/or comparison with old ECGs (20%), and pediatrician follow-up (6.7%). Documentation of further workup by ENT or referral was absent for 6.7%. For children with other ECG changes meeting inclusion criteria (n = 136), abnormalities were documented for 57 (41.9%); normal QT without other abnormality was documented for 18 (13.2%). The most common follow-up referrals were to pediatricians (16.9%) and cardiologists (10.3%). Among patients with clinically significant non-QT abnormalities mandating further evaluation (n = 122), 38 (31.1%) had documented follow-up in medical records. Conclusion There is a high prevalence of ECG abnormalities among children with congenital SNHL. If findings are confirmed by future studies, screening should be considered for congenital unilateral or bilateral SNHL, regardless of severity. We describe a standardized protocol for ECG screening/follow-up.

Superficial siderosis of central nervous system with unknown cause: report of 2 cases and review of the literature.

To report 2 cases of superficial siderosis of central nervous system (SS-CNS) and a review of the literature.

EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.

Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described.Autosomal recessive mutations in EPG5 encoding ectopic P-granules autophagy protein 5 (EPG5), a key autophagy regulator implicated in the formation of autolysosomes, were identified as the genetic cause of Vici syndrome. The eight key features outlined above are highly predictive of EPG5 involvement, with pathogenic EPG5 mutations identified in >90% of cases where six or more of these features are present. The manifestation of all eight features has a specificity of 97% and sensitivity of 89% for EPG5-related Vici syndrome. Nevertheless, substantial clinical overlap exists with other multisystem disorders, in particular congenital disorders of glycosylation and mitochondrial disorders. Clinical and pathological findings suggest Vici syndrome as a paradigm of congenital disorders of autophagy, a novel group of inherited neurometabolic conditions linking neurodevelopment and neurodegeneration due to primary autophagy defects.Here we describe the diagnostic odyssey in a 4-year-old boy whose clinical presentation with multisystem manifestations including skeletal myopathy mimicked a mitochondrial disorder. A genetic diagnosis of Vici syndrome was made through whole genome sequencing which identified compound heterozygous variants in EPG5. We also review the myopathic presentation and morphological characterisation of previously reported cases.

Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I.

Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant genetic disorder of neural crest cells (NCC) characterized by congenital sensorineural hearing loss, dystopia canthorum, and abnormal iris pigmentation. WS1 is due to loss-of-function mutations in paired box gene 3 (PAX3). Here, we identified a novel PAX3 mutation (c.808C>G, p.R270G) in a three-generation Chinese family with WS1, and then analyzed its in vitro activities. The R270G PAX3 retained nuclear distribution and normal DNA-binding ability; however, it failed to activate MITF promoter, suggesting that haploinsufficiency may be the underlying mechanism for the mild WS1 phenotype of the study family.

Successful cochlear implantation in Langerhans cell histiocytosis: A rare case.

An 8-year-old girl presented with a 1-year history of bilateral progressive hearing loss and vertigo for 6 months. High-resolution computed tomography of the temporal bones demonstrated multiple lytic lesions. Histopathology examination confirmed a diagnosis of Langerhans cell histiocytosis (LCH). She underwent chemotherapy for 12 months. Following treatment, she was in remission. However, the bilateral profound sensorineural hearing loss persisted. She underwent right cochlear implantation with very good functional audiological outcomes. This is the first known reported case of successful auditory rehabilitation through cochlear implantation in a patient with bilateral profound hearing loss due to isolated bilateral temporal bone LCH.

The late results of 4000 Hz frequency bone conduction after tympanoplasty.

Surgical treatment of conductive hearing loss runs the risk of damage to the inner ear in the mechanism of acoustic trauma.

Diagnostic criteria for Patulous Eustachian Tube: A proposal by the Japan Otological Society.

Patulous Eustachian Tube (PET) is of increasing importance in otology. However, despite the abundance of diseases requiring a differential diagnosis from PET, such as superior semicircular canal dehiscence syndrome, perilymphatic fistula, acute low-tone sensorineural hearing loss, etc., there are currently no established diagnostic criteria for PET. In view of these circumstances, the Japan Otological Society (JOS) Eustachian Tube Committee proposed the diagnostic criteria for Patulous Eustachian Tube in 2012, in order to promote clinical research on PET. A revision was made in 2016, maintaining the original concept that the criteria should be very simple, avoid any contamination of "Definite PET" with uncertain cases. Moreover, it was also intended to minimize the number of cases that could be accidentally excluded even in the presence of some suspected findings ("Possible PET"). The criteria can be used by all otolaryngologists even without using the Eustachian tube function test apparatus. However, the use of such an apparatus may increase the chances of detecting "Definite PET". The algorithm for the diagnosis of PET using the criteria has also been described. The JOS diagnostic criteria for Patulous Eustachian Tube will further promote international scientific communication on PET.

Efficacy of systemic and intratympanic corticosteroid combination therapy versus intratympanic or systemic therapy in patients with idiopathic sudden sensorineural hearing loss: a randomized controlled trial.

The present study was conducted to compare the rates of recovery from idiopathic sudden deafness after the treatment with oral and intratympanic corticosteroids in both mono and combination therapies.

Meningeal and vestibulocochlear nerve enhancement in neuromyelitis optica.

Negative Staining for COL4A5 Correlates With Worse Prognosis and More Severe Ultrastructural Alterations in Males With Alport Syndrome.

Alport syndrome (AS) is a genetic disorder characterized by progressive hematuric nephropathy with or without sensorineural hearing loss and ocular lesions. Previous studies on AS included mostly children.

Association between metabolic syndrome and sensorineural hearing loss: a cross-sectional study of 11,114 participants.

Hearing loss (HL) is associated with certain diseases and affects health, resulting in a low quality of life. Some components of the metabolic syndrome (MetS) coincide with the risk factors for sensorineural hearing loss (SNHL). To date, very few studies have examined the link between MetS and HL. The aim of the current study was to try to understand the potential association between MetS and HL.


Lim HJ, Kim YT, Choi SJ, et al. Efficacy of 3 different steroid treatments for sudden sensorineural hearing loss: a prospective, randomized trial. Otolaryngol Head Neck Surg. 2013;148:121-127. (original doi: 10.1177/0194599812464475 ).

Cochlear Implantation in Children With Congenital Unilateral Deafness: A Case Series.

Cochlear implant is regarded as a treatment option for hearing rehabilitation of adults with unilateral sensorineural hearing loss. A clear benefit has been experienced in regard to speech comprehension in noise, localization, and quality of life. The aim of this study was to investigate the benefit of cochlear implantation for children with congenital unilateral hearing loss.

Effectiveness in Rehabilitation of Current Wireless CROS Technology in Experienced Bone-Anchored Implant Users.

To compare the effectiveness of current contralateral routing of signal technology (CROS) to bone-anchored implants in experienced bone-anchored implant users with unilateral severe-profound sensorineural hearing loss.

Cortical Correlates of Binaural Temporal Processing Deficits in Older Adults.

This study was designed to evaluate binaural temporal processing in young and older adults using a binaural masking level difference (BMLD) paradigm. Using behavioral and electrophysiological measures within the same listeners, a series of stimulus manipulations was used to evaluate the relative contribution of binaural temporal fine-structure and temporal envelope cues. We evaluated the hypotheses that age-related declines in the BMLD task would be more strongly associated with temporal fine-structure than envelope cues and that age-related declines in behavioral measures would be correlated with cortical auditory evoked potential (CAEP) measures.

Hearing impairment is common among Saami adults in Northern Finland.

The Saami are the only indigenous population in Europe and their traditional living area is northern Scandinavia. Hearing impairment (HI) among Saami has not been studied before. The objective was to investigate the presence and type of HI among Saami adults, aged 49-77 years (median age 61 years), living in northern Finland. In addition, the presence of self-reported hearing difficulties, difficulties to hear in background noise and tinnitus were studied. An epidemiological, cross-sectional study encompassing a structured interview, otological examination and audiometry was performed. Bilateral HI was present in 42.9% of men and 29.4% of women, when HI was defined as a pure tone average (PTA) of at least 20 dB hearing level (HL) or more at the frequencies of 0.5, 1, 2 and 4 kHz. In one or both ears (worse ear hearing level, WEHL0.5,1,2,4≥20 dB HL) HI was present in 61.8% of men and 42.2% of women. Sensorineural high frequency hearing impairment was found to be most common. Nearly half (46.9%) of the study subjects reported hearing problems and more than half (55.6%) reported difficulties in following conversation in background noise. Measured HI and subjective hearing difficulties are common among the Saami adults. The healthcare personnel working in this area should be aware of the hearing problems of the Saami population.

A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.

The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy. A homozygous variant, c.870_871del, was identified in the CDK10 gene, predicted to cause a frameshift, p.Trp291Alafs*18, in the cyclin-dependent kinase 10 protein. CDK10 mRNAs were detected in patient cells and do not seem to undergo non-sense mediated decay. CDK10 is the binding partner of Cyclin M (CycM) and CDK10/CycM protein kinase regulates ciliogenesis and primary cilium elongation. Notably, CycM gene is mutated in patients with STAR syndrome. Following incubation, the patient cells appeared less elongated and more densely populated than the control cells suggesting that the CDK10 mutation affects the cytoskeleton. Upon starvation and staining with acetylated-tubulin, γ-tubulin, and Arl13b, the patient cells exhibited fewer and shorter cilia than control cells. These findings underscore the importance of CDK10 for the regulation of ciliogenesis. CDK10 defect is likely associated with a new form of ciliopathy phenotype; additional patients may further validate this association.

Outcomes of Hearing Aid Use by Individuals with Unilateral Sensorineural Hearing Loss (USNHL).

Unilateral sensorineural hearing loss (USNHL) can have a negative impact on functions associated with the advantages of balanced, binaural hearing. Although single-sided deafness, which is a complete loss of audibility in one ear, has gained increased interest in the published research, there is a gap in the literature concerning hearing aid outcomes for individuals with residual, or otherwise "aidable," hearing in the affected ear.

Cochlear Implantation in Children with Postlingual Progressive Steeply Sloping High-Frequency Hearing Loss.

Children with steeply sloping sensorineural hearing loss (SNHL) lack access to critical high-frequency cues despite the use of advanced hearing aid technology. In addition, their auditory-only aided speech perception abilities often meet Food and Drug Administration criteria for cochlear implantation.

Necessity of admission to improve the hearing-recovery rate in idiopathic sudden sensorineural hearing loss.

The purpose of this study was to determine the prognostic potential of admission of a patient for idiopathic sudden sensorineural hearing loss (ISSNHL).

Hearing loss and renal syndromes.

The association between ear and kidney abnormalities has long been recognized; however, the connection between these two disparate organs is not always straightforward. Although Alport syndrome is the most well-known, there are over 20 disorders that need to be considered in the differential diagnosis of patients with both ear and kidney abnormalities. Commonalities are present between the kidney and ear in a number of structural proteins, developmentally important transcription factors, ciliary proteins, and channel proteins, and mutations in these pathways can lead to disease in both organ systems. This manuscript reviews the congenital disorders with both hearing and kidney manifestations.

Transcanal endoscopic ear surgery for perilymphatic fistula after electric acoustic stimulation.

Transcanal endoscopic ear surgery (TEES) will become a very useful therapeutic option. A perilymphatic fistula (PLF) is defined as sudden sensorineural hearing loss and/or vertigo caused by leakage of the perilymph through a fistula from the oval window and/or round window. We report a case of PLF after electric acoustic stimulation (EAS), a kind of cochlear implant, successfully treated by TEES. A 38-year-old man presented to our hospital with vertigo and hearing loss (HL). His vertigo was induced by Valsalva maneuvers. Eight months ago, he underwent EAS for his right ear for congenital sensorineural HL. Although he maintained his hearing level after EAS, his pure tone audiogram this time showed deterioration of hearing at low frequencies in his right ear. A diagnosis of right PLF was made. After confirming the non-effectiveness of oral prednisolone treatment, PLF repair surgery to patch the oval and round windows by TEES was performed. His vertigo did not recur after the surgery. To the best of our knowledge, this is the first report of PLF repair surgery by TEES without a microscope. The wide-field view of the middle ear by TEES was useful to prevent electrode damage in a PLF patient with a cochlear implant.

A controlled comparison of auditory steady-state responses and pure-tone audiometry in patients with hearing loss.

We performed a prospective interventional study to evaluate correlations between hearing thresholds determined by pure-tone audiometry (PTA) and auditory steady-state response (ASSR) testing in two types of patients with hearing loss and a control group of persons with normal hearing. The study was conducted on 240 ears-80 ears with conductive hearing loss, 80 ears with sensorineural hearing loss, and 80 normal-hearing ears. We found that mean threshold differences between PTA results and ASSR testing at different frequencies did not exceed 15 dB in any group. Using Pearson correlation coefficient calculations, we determined that the two responses correlated better in patients with sensorineural hearing loss than in those with conductive hearing loss. We conclude that measuring ASSRs can be an excellent complement to other diagnostic methods in determining hearing thresholds.

Correlation between sensorineural hearing loss and chronic otorrhea.

Many studies have attempted to correlate chronic otorrhea in children and in adults with the sensorineural hearing loss in the affected ear, with contradictory results. This loss might be the result of the likely toxicity of the bacteria involved, effects of inflammatory cytokines, or constant use of ototoxic antibiotics. All studies evaluated to date compared the affected ear with the normal contralateral ear. From the digitized archive of otologic surgery files of the Department of Otorhinolaryngology at Santa Casa de São Paulo School of Medical Sciences, the ears of patients with chronic otorrhea were evaluated visually and compared with the normal contralateral ears. Ears with otorrhea were also compared with ears of other patients with dry tympanic perforation. Ears with suppuration were evaluated for cholesteatoma. The duration of otorrhea was considered. The sensorineural hearing threshold was evaluated for the frequencies of 500, 1,000, 2,000, and 4,000 Hz. A total of 98 patients with chronic otorrhea and 60 with dry tympanic membrane perforation were evaluated. A correlation between sensorineural hearing loss and chronic otorrhea was observed when compared with both contralateral normal ears and dry perforated ears of other patients. No relationship between hearing loss and the duration of suppuration or cholesteatoma was found. Sensorineural hearing loss occurs in ears with chronic otorrhea. The duration of otorrhea and the etiology of suppuration did not influence the hearing loss.

Bilateral sensorineural hearing loss secondary to sympathetic ophthalmia in a human leukocyte antigen-A2 positive patient.

We report a case of sympathetic ophthalmia 1 month following trauma in a 71-year-old immunocompetent female patient of Indian origin. The patient was hospitalized with signs and symptoms of meningism, ataxia, and neurosensory deafness. We explore and provide further clinical evidence in supporting the hypothesis of antigen cross-reactivity derived from tissues with common neural crest embryological background such as the uvea and cells of the labyrinth. The patient was human leukocyte antigen-A2 positive and treatment with oral steroids and cyclosporine has managed to have favorable results and control the inflammation.

The Clinician Faced to Anticochlear Antibodies: What to Do With Them?

Autoimmune inner ear disease as a cause of sensorineural hearing loss is a poorly understood entity. Thus, the role of anticochlear antibodies (ACLAs) in clinical management is still not well established.