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Sensorineural deafness - Top 30 Publications

Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.

Mutations of the human ATP6V1B1 gene cause distal renal tubular acidosis (dRTA; OMIM #267300) often associated with sensorineural hearing impairment; however, mice with a knockout mutation of Atp6v1b1 were reported to exhibit a compensated acidosis and normal hearing. We discovered a new spontaneous mutation (vortex, symbol vtx) of Atp6v1b1 in an MRL/MpJ (MRL) colony of mice. In contrast to the reported phenotype of the knockout mouse, which was developed on a primarily C57BL/6 (B6) strain background, MRL-Atp6v1b1vtx/vtx mutant mice exhibit profound hearing impairment, which is associated with enlarged endolymphatic compartments of the inner ear. Mutant mice have alkaline urine but do not exhibit overt metabolic acidosis, a renal phenotype similar to that of the Atpbv1b1 knockout mouse. The abnormal inner ear phenotype of MRL- Atp6v1b1vtx/vtx mice was lost when the mutation was transferred onto the C57BL/6J (B6) background, indicating the influence of strain-specific genetic modifiers. To genetically map modifier loci in Atp6v1b1vtx/vtx mice, we analysed ABR thresholds of progeny from a backcross segregating MRL and B6 alleles. We found statistically significant linkage with a locus on Chr 13 that accounts for about 20% of the hearing threshold variation in the backcross mice. The important effect that genetic background has on the inner ear phenotype of Atp6v1b1 mutant mice provides insight into the hearing loss variability associated with dRTA caused by ATP6V1B1 mutations. Because MRL-Atp6v1b1vxt/vtx mice do not recapitulate the metabolic acidosis of dRTA patients, they provide a new genetic model for nonsyndromic deafness with enlarged vestibular aqueduct (EVA; OMIM #600791).

Headache in a young woman: do not forget Susac's syndrome.

Susac syndrome is a rare disease characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. This underdiagnosed condition needs to be considered in the differential diagnosis of a broad variety of disorders. An early diagnosis is important as treatment can halt disease progression and prevent permanent disability. Herein, we report a case of Susac syndrome in a 31-year-old woman and we highlight how challenging an early diagnosis was and the importance of an aggressive therapeutic approach, including the combination of steroids and other cytotoxic drugs.

Surgical trainees and powered-drill use do not affect type I tympanoplasty hearing outcomes.

The purposes of this study were to determine if use of a powered drill or trainee involvement during tympanoplasty is associated with a decline in sensorineural hearing, as well as to examine whether trainee involvement affected tympanic membrane (TM) closure rates. This study was a chart review (February 2006 to October 2011) of 172 pediatric otolaryngology patients undergoing type I tympanoplasty for TM perforation of any etiology at a tertiary-care pediatric otolaryngology practice. Data collected included air conduction (AC) at 250 to 8,000 Hz, speech reception thresholds, bone conduction (BC) at 500 to 4,000 Hz, and air-bone gap (ABG) at 500 to 4,000 Hz. Rates of surgical success did not change significantly if a trainee assisted during surgery (69.6% with an assistant vs. 77.4% without; p = 0.297). AC hearing was not found to be significantly different between the two groups preoperatively or postoperatively at 250, 500, 1,000, 2,000, 4,000, or 8,000 Hz (p > 0.05). There were no significant differences in AC hearing outcomes between patients in whom a surgical drill was used and those in whom no drill was used (p > 0.05). BC and ABG did not change significantly at any frequency (p > 0.05). In conclusion, no correlation between high-frequency hearing loss and use of a powered drill for canalplasty during type I tympanoplasty was found in this pediatric population. No significant difference was found in surgical success rates or AC hearing outcomes when a surgical trainee was present.

The Use of Lexical Neighborhood Test (LNT) in the Assessment of Speech Recognition Performance of Cochlear Implantees with Normal and Malformed Cochlea.

The present study aims to use the model-based test Lexical Neighborhood Test (LNT), to assess speech recognition performance in early and late implanted hearing impaired children with normal and malformed cochlea. The LNT was administered to 46 children with congenital (prelingual) bilateral severe-profound sensorineural hearing loss, using Nucleus 24 cochlear implant. The children were grouped into Group 1-(early implantees with normal cochlea-EI); n = 15, 31/2-61/2 years of age; mean age at implantation-3½ years. Group 2-(late implantees with normal cochlea-LI); n = 15, 6-12 years of age; mean age at implantation-5 years. Group 3-(early implantees with malformed cochlea-EIMC); n = 9; 4.9-10.6 years of age; mean age at implantation-3.10 years. Group 4-(late implantees with malformed cochlea-LIMC); n = 7; 7-12.6 years of age; mean age at implantation-6.3 years. The following were the malformations: dysplastic cochlea, common cavity, Mondini's, incomplete partition-1 and 2 (IP-1 and 2), enlarged IAC. The children were instructed to repeat the words on hearing them. Means of the word and phoneme scores were computed. The LNT can also be used to assess speech recognition performance of hearing impaired children with malformed cochlea. When both easy and hard lists of LNT are considered, although, late implantees (with or without normal cochlea), have achieved higher word scores than early implantees, the differences are not statistically significant. Using LNT for assessing speech recognition enables a quantitative as well as descriptive report of phonological processes used by the children.

Evaluation of pediatric cochlear implant care throughout Europe: Is European pediatric cochlear implant care performed according to guidelines?

International guidelines indicate that children with profound hearing loss should receive a cochlear implant (CI) soon after diagnosis in order to optimize speech and language rehabilitation. Although prompt rehabilitation is encouraged by current guidelines, delays in cochlear implantation are still present. This study investigated whether European countries establish timely pediatric CI care based on epidemiological, commercial, and clinical data.

Meatal obstruction following canal wall down mastoidectomy.

Chronic otitis media (COM) is completely treated with a single procedure in most patients but may require multiple surgeries in some cases. The main goals of open cavity mastoidectomy are to completely eradicate the disease, create a large enough meatus for examination and mastoid air cells, and provide a self-cleaning epithelized dry cavity, and achieve maximum hearing. In this report, we present a very rare case of COM who underwent revision mastoidectomy in our clinic due to meatal obstruction in the right ear, total sensorineural hearing loss, and pain and tenderness in the postauricular region.

Update on the Safety of Phosphodiesterase Type 5 Inhibitors for the Treatment of Erectile Dysfunction.

Phosphodiesterase type 5 inhibitors (PDE5Is) have demonstrated efficacy in the treatment of erectile dysfunction (ED). Although historically found to have limited drug-related adverse events, emerging data have suggested that PDE5Is might be associated with melanoma or recurrence of prostate cancer after radical prostatectomy.

Frequency of auditory involvement and of associated factors in patients with juvenile idiopathic arthritis.

Juvenile idiopathic arthritis (JIA) is a chronic autoimmune disease characterized by the presence of arthritis in children under 16 years of age for more than 6 weeks in the absence of any other known cause. The extra-articular manifestations, especially in the audiovestibular system, are related to the involvement of the joints of the ossicular chain as a result of the inflammatory process in the synovium. Previous clinical studies in pediatric patients have shown conductive or sensorineural hearing loss.

Neuropsychological outcome of a case of Susac syndrome: A two-year follow-up study.

Susac syndrome is a rare condition characterised by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. Of the few published cases, there is variability with regard to cognitive outcome. We describe the clinical course and neuropsychological performance of a 21-year-old male patient presenting with severe encephalopathy and later developing the full triad fulfilling the diagnosis of Susac syndrome.

Connexin hemichannels and cochlear function.

Connexins play vital roles in hearing, including promoting cochlear development and sustaining auditory function in the mature cochlea. Mutations in connexins expressed in the cochlear epithelium, Cx26 and Cx30, cause sensorineural deafness and in the case of Cx26, is one of the most common causes of non-syndromic, hereditary deafness. Connexins function as gap junction channels and as hemichannels, which mediate intercellular and transmembrane signaling, respectively. Both channel configurations can play important, but very different roles in the cochlea. The potential roles connexin hemichannels can play are discussed both in normal cochlear function and in promoting pathogenesis that can lead to hearing loss.

Otolaryngologic management of Down syndrome patients: what is new?

The management of children with Down syndrome as it pertains to the otolaryngologist continues to evolve. Obstructive sleep apnea (OSA) has dominated the recent literature, but other topics including hearing loss, swallowing, and perioperative considerations are also reported.

Hearing impairment in premature newborns-Analysis based on the national hearing screening database in Poland.

The incidence of sensorineural hearing loss is between 1 and 3 per 1000 in healthy neonates and 2-4 per 100 in high-risk infants. The national universal neonatal hearing screening carried out in Poland since 2002 enables selection of infants with suspicion and/or risk factors of hearing loss. In this study, we assessed the incidence and risk factors of hearing impairment in infants ≤33 weeks' gestational age (wga).

Safe Use of Acoustic Vestibular-Evoked Myogenic Potential Stimuli: Protocol and Patient-Specific Considerations.

Vestibular-evoked myogenic potentials (VEMPs) are commonly used clinical assessments for patients with complaints of dizziness. However, relatively high air-conducted stimuli are required to elicit the VEMP, and ultimately may compromise safe noise exposure limits. Recently, research has reported the potential for noise-induced hearing loss (NIHL) from VEMP stimulus exposure through studies of reduced otoacoustic emission levels after VEMP testing, as well as a recent case study showing permanent sensorineural hearing loss associated with VEMP exposure.

Tracking of Noise Tolerance to Measure Hearing Aid Benefit.

The benefits offered by noise reduction (NR) features on a hearing aid had been studied traditionally using test conditions that set the hearing aids into a stable state of performance. While adequate, this approach does not allow the differentiation of two NR algorithms that differ in their timing characteristics (i.e., activation and stabilization time).

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, structural cardiac abnormalities, conductive and sensorineural hearing loss, and cleft lip. Recently, causative compound heterozygous variants were identified in TXNL4A. We analyzed an individual with clinical features of BMKS and her parents by whole-genome sequencing and identified compound heterozygous variants in TXNL4A (a novel splice site variant (c.258-2A>G, (p.?)) and a 34 bp promoter deletion (hg19 chr18:g.77748581_77748614del (type 1Δ) in the proband). Subsequently, we tested a cohort of 19 individuals with (mild) features of BMKS and 17 individuals with isolated choanal atresia for causative variants in TXNL4A by dideoxy-sequence analysis. In one individual with BMKS unrelated to the first family, we identified the identical compound heterozygous variants. In an individual with isolated choanal atresia, we found homozygosity for the same type 1Δ promoter deletion, whilst in two cousins from a family with choanal atresia and other minor anomalies we found homozygosity for a different deletion within the promoter (hg19 chr18: g.77748604_77748637del (type 2Δ)). Hence, we identified causative recessive variants in TXNL4A in two individuals with BMKS as well as in three individuals (from two families) with isolated choanal atresia.

Severe neonatal cytomegalovirus infection: about a case.

Maternofoetal infection with Cytomegalovirus (CMV) is the most common congenital infection and a leading cause of mental retardation and sensori-neural hearing loss. Population-based studies indicate that at least 0.5% of all infants born alive have CMV of whom approximately 10% have clinically evident symptomsat birth. The Justification of systematic screening for foetal CMV infection is still controversial and is not recommended in most developed countries. This is mainly justified by the paucity of antenatal prognostic factors and the lack of established intrauterine treatment when foetal infection has been diagnosed. In case of congenital CMV infection, infants can be symptomatic or asymptomatic at birth. Mortality for such infants can reach 30%, and survivors can have mental retardation, sensorineural hearing loss, chorioretinitis, and other significant medical problems. A newborn symptomatic is defined by the existence of clinical and / or biological signs and / or neonatal imaging, the most frequent clinical signs are: hepatosplenomegaly (60%), microcephaly (53%), jaundice (67%), petechiae (76%), at least one neurological abnormality (68%). The frequency of biological abnormalities is as follows: increase in transaminases (83%), thrombocytopenia (77%), hyperbilirubinemia (69%), haemolysis (51%), hyperproteinorrachy (46%). The abnormalities of neonatal imaging are present in 70% of symptomatic newborns; intracerebral calcifications are the most frequent abnormalities. We report a case of newborn who presented a congenital infection by CMV, evoked on the intrauterine growth retardation, organs of the reticulo endothelial and haematological system were reached while nervous system was spared, and CMV PCR was very positive. indicating an antiviral treatment for 6weeks based on ganciclovir.

Is Hospitalization Necessary after Ear Surgery? A National Survey and Retrospective Review of Postoperative Events.

Objective First, to survey our national otolaryngology colleagues on their postoperative care habits (hospitalization vs day surgery) after elective middle ear surgery. Second, to evaluate the necessity of hospitalization and safety of day surgery after these procedures. Methods A national survey regarding postoperative habits after elective middle ear surgery was launched. Then, the cases of all patients having undergone these surgical procedures at our center between 2010 and 2016 were reviewed. They were divided into 2 groups: hospitalization and day surgery. Postoperative events during hospitalization and rate of consultation/readmission for day surgery were recorded. Results Heterogeneity in postoperative habits for most elective otologic surgery exists among otolaryngologists. For tympanoplasty, however, day surgery was uniformly favored. At our institution, 88.6% of hospitalization patients had no complications during their stay. Complications noted for others were nausea (7.2%), bleeding (3.1%), hematoma (0.5%), and sensorineural hearing loss (0.5%). In the day surgery group, 3.0% consulted within 48 hours following their procedure, and the readmission rate was 1.3%. Nausea was the only cause for readmission, and stapes surgery accounted for 100% of readmissions. Discussion Most elective middle ear surgery can be safely performed as day care. Hospitalization does not provide care that could not have been provided at home in the majority of cases. Overnight hospital stay may be considered for stapes surgery. Implications for Practice Day surgery for elective middle ear surgery is sufficient for most cases. Transferring these cases to day care should lower costs to our health care system and increase bed availability.

Hearing Loss following Posterior Fossa Microvascular Decompression: A Systematic Review.

Objectives (1) Determine the prevalence of hearing loss following microvascular decompression (MVD) for trigeminal neuralgia (TN) and hemifacial spasm (HFS). (2) Demonstrate factors that affect postoperative hearing outcomes after MVD. Data Sources PubMed-NCBI, Scopus, CINAHL, and PsycINFO databases from 1981 to 2016. Review Methods Systematic review of prospective cohort studies and retrospective reviews in which any type of hearing loss was recorded after MVD for TN or HFS. Three researchers extracted data regarding operative indications, procedures performed, and diagnostic tests employed. Discrepancies were resolved by mutual consensus. Results Sixty-nine references with 18,233 operations met inclusion criteria. There were 7093 patients treated for TN and 11,140 for HFS. The overall reported prevalence of hearing loss after MVD for TN and HFS was 5.58% and 8.25%, respectively. However, many of these studies relied on subjective measures of reporting hearing loss. In 23 studies with consistent perioperative audiograms, prevalence of hearing loss was 13.47% for TN and 13.39% for HFS, with no significant difference between indications ( P = .95). Studies using intraoperative brainstem auditory evoked potential monitoring were more likely to report hearing loss for TN (relative risk [RR], 2.28; P < .001) but not with HFS (RR, 0.88; P = .056). Conclusion Conductive and sensorineural hearing loss are important complications following posterior fossa MVD. Many studies have reported on hearing loss using either subjective measures and/or inconsistent audiometric testing. Routine perioperative audiogram protocols improve the detection of hearing loss and may more accurately represent the true risk of hearing loss after MVD for TN and HFS.

Assessment and improvement of sound quality in cochlear implant users.

Cochlear implants (CIs) have successfully provided speech perception to individuals with sensorineural hearing loss. Recent research has focused on more challenging acoustic stimuli such as music and voice emotion. The purpose of this review is to evaluate and describe sound quality in CI users with the purposes of summarizing novel findings and crucial information about how CI users experience complex sounds.

The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.

Lipopolysaccharide-responsive beige-like anchor protein (LRBA) belongs to the enigmatic class of BEACH domain-containing proteins, which have been attributed various cellular functions, typically involving intracellular protein and membrane transport processes. Here, we show that LRBA deficiency in mice leads to progressive sensorineural hearing loss. In LRBA knockout mice, inner and outer hair cell stereociliary bundles initially develop normally, but then partially degenerate during the second postnatal week. LRBA deficiency is associated with a reduced abundance of radixin and Nherf2, two adaptor proteins, which are important for the mechanical stability of the basal taper region of stereocilia. Our data suggest that due to the loss of structural integrity of the central parts of the hair bundle, the hair cell receptor potential is reduced, resulting in a loss of cochlear sensitivity and functional loss of the fraction of spiral ganglion neurons with low spontaneous firing rates. Clinical data obtained from two human patients with protein-truncating nonsense or frameshift mutations suggest that LRBA deficiency may likewise cause syndromic sensorineural hearing impairment in humans, albeit less severe than in our mouse model.

Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.

Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four subtypes (WS1-WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms. Recently, we identified a SOX10 missense mutation c.422T > C (p.L141P) associated with WS2. We performed functional assays and found the mutant loses DNA-binding capacity, shows aberrant cytoplasmic and nuclear localization, and fails to interact with PAX3. Therefore, the mutant cannot transactivate the MITF promoter effectively, inhibiting melanin synthesis and leading to WS2. Our study confirmed haploinsufficiency as the underlying pathogenesis for WS2.

Biomimetic Artificial Basilar Membranes for Next-Generation Cochlear Implants.

Patients with sensorineural hearing loss can recover their hearing using a cochlear implant (CI). However, there is a need to develop next-generation CIs to overcome the limitations of conventional CIs caused by extracorporeal devices. Recently, artificial basilar membranes (ABMs) are actively studied for next-generation CIs. The ABM is an acoustic transducer that mimics the mechanical frequency selectivity of the BM and acoustic-to-electrical energy conversion of hair cells. This paper presents recent progress in biomimetic ABMs. First, the characteristics of frequency selectivity of the ABMs by the trapezoidal membrane and beam array are addressed. Second, to reflect the latest research of energy conversion technologies, ABMs using various piezoelectric materials and triboelectric-based ABMs are discussed. Third, in vivo evaluations of the ABMs in animal models are discussed according to the target position for implantation. Finally, future perspectives of ABM studies for the development of practical hearing devices are discussed.

Is there a best side for cochlear implants in post-lingual patients?

Cochlear Implant is a sensory prosthesis capable of restoring hearing in patients with severe or profound bilateral sensorineural hearing loss.

Evaluation of auditory and cochlear functions in ankylosing spondylitis patients according to the site of involvement.

Ankylosing spondylitis (AS) is a chronic systemic inflammatory disease of unknown origin with a prevalence rate about 1% in the population. Audiovestibular dysfunction is encountered in AS and sensorineural hearing loss is the most common form. The present study aimed to evaluate auditory and cochlear function in AS patients according to the site of involvement. A total of 47 patients followed for AS in the rheumatology outpatient clinic and 30 healthy controls were enrolled in the study. Subgroups of AS were identified according to the site of involvement. The participants underwent complete otolaryngological examination together with audiometry, otoacoustic emission and tympanometry tests. Disease Activity Index (BASDAI) was determined in the AS group. Hearing loss was detected in seven patients (15%) in the AS group and in four subjects (8%) in the control group. There was statistically significant difference between the patient and control groups in terms of mean bone conduction hearing level at 4000 hertz (Hz) in the right and left ears (p = 0.028, p = 0.049). There was no significant difference between the subgroups of AS in terms of overall auditory and cochlear functions. No correlation was determined between auditory values and Disease Activity Index and CRP (p > 0.05 for all). Our results reveal that AS has minimal effect on auditory and cochlear functions. The effects of subgroups of AS on auditory functions were comparable. The authors concluded that BASDAI and CRP are not convenient in monitoring auditory functions of AS patients.

Brimonidine Protects Auditory Hair Cells from in vitro-Induced Toxicity of Gentamicin.

Brimonidine, an alpha-2 adrenergic receptor (α2-AR) agonist, has neuroprotective effects in the visual system and in spiral ganglion neurons. Auditory hair cells (HCs) express all 3 α2-AR subtypes, but their roles in HCs remain unknown. This study investigated the effects of brimonidine on auditory HCs that were also exposed to gentamicin, which is toxic to HCs. Organ of Corti explants were exposed to gentamicin in the presence or absence of brimonidine, and the α2-AR protein expression levels and Erk1/2 and Akt phosphorylation levels were determined. Brimonidine had a protective effect on auditory HCs against gentamicin-induced toxicity that was blocked by yohimbine. This suggested that the protective effect of brimonidine on HCs was mediated by the α2-AR. None of the treatments altered α2-AR protein expression levels, and brimonidine did not significantly change the activation levels of the Erk1/2 and Akt proteins. These observations indicated that brimonidine, acting directly via α2-AR, protects HCs from gentamicin-induced toxicity. Therefore, brimonidine shows potential for preventing or treating sensorineural hearing loss.

Effect of antioxidant supplementation on the auditory threshold in sensorineural hearing loss: a meta-analysis.

Hearing loss is conceptualized as any impairment of the ability to hear and/or detect speech or environment sounds, regardless of cause, type, or degree. It may occur at different stages of life; during pregnancy or childbirth, in childhood, adulthood or old age. It should be noted that aging is the most common cause of sensorineural hearing loss followed by noise-induced hearing loss, and both are closely related to the formation of reactive oxygen species. Dietary antioxidant supplementation has been employed as a therapeutic strategy to prevent and/or delay the risks of major human diseases.

Sudden sensorineural hearing loss in children and adolescents: Clinical characteristics and age-related prognosis.

Although many studies have investigated sudden sensorineural hearing loss (SSNHL) in adults, there were few studies on SSNHL in the pediatric population; especially research on treatment and prognosis of pediatric SSNHL was limited. The aim of this study was to evaluate clinical characteristics, treatment outcomes and prognostic factors in children and adolescents with SSNHL.

Mutations in KARS cause early-onset hearing loss and leukoencepha lopathy: Potential pathogenic mechanism.

Leukoencephalopathies are a broad class of common neurologic deterioration for which the etiology remain unsolved in many cases. In a Chinese Han family segregated with sensorineural hearing loss and leukoencephalopathy, candidate pathogenic variants were identified by targeted next-generation sequencing of 144 genes associated with deafness and 108 genes with leukoencephalopathy. Novel compound heterozygous mutations p.R477H and p.P505S were identified in KARS, which encodes lysyl-tRNA synthetase (LysRS), as the only candidate causative variants. These two mutations were functionally characterized by enzymatic assays, immunofluorescence, circular dichroism analysis and gel filtration chromatography. Despite no alteration in the dimer-tetramer oligomerization and cellular distribution by either mutation, the protein structure was notably influenced by the R477H mutation, which subsequently released the protein from the multiple-synthetase complex (MSC). Mutant LysRSs with the R477H and P505S mutations had decreased tRNA(Lys) aminoacylation and displayed a cumulative effect when introduced simultaneously. Our studies showed that mutations in KARS lead to a newly defined subtype of leukoencephalopathy associated with sensorineural hearing impairment. The combined effect of reduced aminoacylation and release of LysRS from the MSC likely underlies the pathogenesis of the KARS mutations identified in this study. This article is protected by copyright. All rights reserved.

Impact of radiation technique, radiation fraction dose, and total cisplatin dose on hearing : Retrospective analysis of 29 medulloblastoma patients.

To analyze the incidence and degree of sensorineural hearing loss (SNHL) resulting from different radiation techniques, fractionation dose, mean cochlear radiation dose (Dmean), and total cisplatin dose.