Facial paralysis: Clinical practice guideline of the Spanish Society of Otolaryngology. / Parálisis facial: guía de práctica clínica de la Sociedad Española de ORL.

Bell's palsy is the most common diagnosis associated with facial nerve weakness or paralysis. However, not all patients with facial paresis/paralysis have Bell's palsy. Other common causes include treatment of vestibular schwannoma, head and neck tumours, iatrogenic injuries, Herpes zoster, or trauma. The approach to each of these conditions varies widely. The purpose of this guideline is to provide clinicians with guidance on the treatment and monitoring of patients with different causes of facial paralysis. We intend to draft a practical guideline, focusing on operationalised recommendations deemed to be useful in the daily management of patients. This guideline was promoted by the Spanish Society of Otolaryngology and developed by a group of physicians with an interest in facial nerve disorders, including at least one physician from each Autonomous Community. In a question and answer format, it includes 56 relevant topics related to the facial nerve.

Valencia's Cathedral Church Bell Acoustics Impact on the Hearing Abilities of Bell Ringers.

Studies on the effect of occupational noise have been widely performed for occupations such as construction workers, workers of factories or even musicians and workers of nightclubs. However, studies on the acoustics of church bells are very scarce and usually reported in languages other than English. In Spain, although the tradition of bell ringers is progressively getting lost, some bell ringers that continue transmitting the tradition remain. Church bells create sound with a large sound pressure level that can be heard from a great distance. However, despite the characteristics of the sound of church bells, bell ringers do not present symptoms of occupational hearing loss unlike musicians and construction workers. To determine the effects of the sound of the church bells on bell ringers, in this paper, an acoustic study of the church bells and a physiological study of the hearing abilities of bell ringers. Results show sound pressure levels reaching 120 dB inside the bell tower. The resulting hearing loss in bell ringers is small considering the great intensity of the sound produced by the bells. This is likely due to the short amount of time that bell ringers are exposed to the sound even if it reaches high sound pressure levels.

Active middle ear implants. / Implantes activos de oído medio.

Active middle ear implants are surgically implanted prosthesis, which intend to stimulate the ossicular chain or the inner ear fluids through the oval or round windows. These implants may be useful for the treatment of certain patients with sensorineural hearing loss as well as for conductive or mixed hearing loss. This clinical guide attempts to summarize the current knowledge concerning the basic characteristics and indications of the most commonly used middle ear implants, including Vibrant Soundbrige (Med-el, Innsbruck), Carina (Cochlear, Australia), and CodacsTM. (Cochlear, Australia).

Guideline on cochlear implants. / Guía clínica sobre implantes cocleares.

INTRODUCTION: In the last decade numerous hospitals have started to work with patients who are candidates for a cochlear implant (CI) and there have been numerous and relevant advances in the treatment of sensorineural hearing loss that extended the indications for cochlear implants. OBJECTIVES: To provide a guideline on cochlear implants to specialists in otorhinolaryngology, other medical specialities, health authorities and society in general. METHODS: The Scientific Committees of Otology, Otoneurology and Audiology from the Spanish Society of Otolaryngology and Head and Neck Surgery (SEORL-CCC), in a coordinated and agreed way, performed a review of the current state of CI based on the existing regulations and in the scientific publications referenced in the bibliography of the document drafted. RESULTS: The clinical guideline on cochlear implants provides information on: a) Definition and description of Cochlear Implant; b) Indications for cochlear implants; c) Organizational requirements for a cochlear implant programme. CONCLUSIONS: A clinical guideline on cochlear implants has been developed by a Committee of Experts of the SEORL-CCC, to help and guide all the health professionals involved in this field of CI in decision-making to treathearing impairment.

Audiological Findings in Charcot-Marie-Tooth Disease Type 4C.

OBJECTIVE: Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary demyelinating early onset neuropathy with prominent unsteadiness and occasional cranial nerve involvement. Vestibulopathy caused by the dysfunction of cranial nerve VIII has been demonstrated in a high percentage of these patients, but the presence and degree of auditory neuropathy are unknown. The aim of the study was to characterize the hearing abnormalities of a series of patients with CMT4C and to determine the presence and severity of auditory neuropathy (AN) in these patients. MATERIALS AND METHODS: Ten patients with genetically confirmed CMT4C underwent comprehensive clinical and audiological testing. The results were compared among patients in different age groups and also to the results of vestibular testing that had already been performed. RESULTS: Only 3 patients had hearing problems, but 9 had hearing abnormalities on ancillary testing that were compatible with different degrees of auditory nerve dysfunction. In the mildest cases, only the abnormality of the stapedial reflex and distortion of wave I in auditory brainstem responses could be detected. In the more severe cases, tonal audiometry revealed asymmetric hearing loss. These findings were more severe in older patients, even after correcting for age-related hypoacusia. In these patients, vestibular dysfunction could also be detected and seemed to be more profound and symmetric than hearing loss. CONCLUSION: This report confirms and defines the presence of different degrees of auditory neuropathy in all patients with CMT4C, being detectable, usually unilaterally, during infancy, and worsening with disease progression.

Analysis of the Ush2a gene in medaka fish (Oryzias latipes).

Patients suffering from Usher syndrome (USH) exhibit sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction. USH is the most common genetic disorder affecting hearing and vision and is included in a group of hereditary pathologies associated with defects in ciliary function known as ciliopathies. This syndrome is clinically classified into three types: USH1, USH2 and USH3. USH2 accounts for well over one-half of all Usher cases and mutations in the USH2A gene are responsible for the majority of USH2 cases, but also for atypical Usher syndrome and recessive non-syndromic RP. Because medaka fish (Oryzias latypes) is an attractive model organism for genetic-based studies in biomedical research, we investigated the expression and function of the USH2A ortholog in this teleost species. Ol-Ush2a encodes a protein of 5.445 aa codons, containing the same motif arrangement as the human USH2A. Ol-Ush2a is expressed during early stages of medaka fish development and persists into adulthood. Temporal Ol-Ush2a expression analysis using whole mount in situ hybridization (WMISH) on embryos at different embryonic stages showed restricted expression to otoliths and retina, suggesting that Ol-Ush2a might play a conserved role in the development and/or maintenance of retinal photoreceptors and cochlear hair cells. Knockdown of Ol-Ush2a in medaka fish caused embryonic developmental defects (small eyes and heads, otolith malformations and shortened bodies with curved tails) resulting in late embryo lethality. These embryonic defects, observed in our study and in other ciliary disorders, are associated with defective cell movement specifically implicated in left-right (LR) axis determination and planar cell polarity (PCP).

Contralateral hearing aid use in cochlear implanted patients: multicenter study of bimodal benefit.

CONCLUSION: The use of a hearing aid (HA) in combination with a cochlear implant (CI) significantly improved performance for speech perception in quiet, in noise, and for localization compared with monaural conditions. No significant differences in functional performance were observed following optimization of HA fitting. OBJECTIVES: To evaluate the binaural benefits derived from using a contralateral HA in conjunction with a CI in subjects with significant functional hearing in the nonimplanted ear and the effects of HA fitting optimization. METHODS: Fifteen adult CI users, intra-subject controls, were enrolled in a prospective repeated-measure multicenter study. Evaluation of performance for speech understanding, localization, and subjective impressions was conducted before and following HA fitting optimization for CI alone, HA alone, and CI + HA. RESULTS: For speech testing in quiet, bimodal scores were significantly better than for HA alone and CI alone conditions (p < 0.01). For speech and noise (S0N0) at 0° azimuth the scores were significantly better in the bimodal condition than for CI alone (p = 0.01), indicating binaural summation. When noise was presented to the HA side (S0NHA) bimodal scores were significantly better than for CI alone (p < 0.01 and p < 0.05, respectively), suggesting a significant binaural squelch effect. Sound localization ability was significantly improved in the bimodal condition compared with the CI alone condition (p = 0.002).

Assessment of the subjective benefit of electric acoustic stimulation with the abbreviated profile of hearing aid benefit.

CONCLUSION: This study demonstrates that electric-acoustic stimulation (EAS) significantly decreases the subjective impairment in speech perception. OBJECTIVES: To assess the subjective benefit of EAS over the first 12 months after EAS fitting using the Abbreviated Profile of Hearing Aid Benefit (APHAB). METHOD: Twenty-three EAS users, implanted with either the PULSAR(CI)(100) FLEX(EAS) provided with the DUET EAS processor or the COMBI40+ Medium provided with the TEMPO+ speech processor, were included. Electric stimulation was activated about 1 month postoperatively; ipsilateral acoustic stimulation was added 2 months thereafter. EAS benefit was measured preoperatively with only a hearing aid and postoperatively at EAS fitting and then 3, 6 and 12 months after EAS fitting using the APHAB. RESULTS: Subjects reported significant improvements in the global score with a mean decrease in impairment from 74% preoperatively to 45% after 3 months of EAS use. Furthermore, clinical relevance was demonstrated in multiple subscales between preoperative and first fitting reflecting a true benefit of EAS with a probability of 95%.

[Treatment of acute mastoiditis in children with cochlear implants]. / Tratamiento de la mastoiditis aguda en niños con implante coclear.

INTRODUCTION: Acute mastoiditis (AM) is a paediatric infectious complication that raises a specific problem in case of implanted patients. OBJECTIVE: To review the cases of AM in a paediatric cochlear implant (CI) programme to study its incidence and associated problems. MATERIALS AND METHODS: A retrospective study was conducted on 248 children aged between 8 months and 14 years who underwent CI from 1994 to 2009. The demographics, clinical data and their treatment were analyzed. RESULTS: Five patients developed acute mastoiditis (2.01%), three of them with subperiosteal abscess (1.21%). The mean age of implantation was 2 years and 4 months, and the complication presented between 1 and 33 months post-implantation (mean, 11.6 months). Four patients had episodes of serous otitis preimplantation. The mean age of AM patients was of 3 years and 4 months. The CI type was nucleus in all cases. CONCLUSIONS: Conservative management is suggested for AM and subperiosteal abscess in children with cochlear implants. Surgical treatment should be avoided to prevent CI contamination. The first option is intravenous antibiotics and simple puncture of the abscess. If surgical drainage is needed, radiological study should be performed to locate the CI electrodes.

Electric acoustic stimulation of the auditory system: results of a multi-centre investigation.

CONCLUSION: A high rate of hearing preservation during cochlear implantation for electric acoustic stimulation (EAS) is possible, even when surgery is conducted by a number of different surgeons. OBJECTIVES: This study aimed to determine the degree of hearing preservation using surgery for EAS in a European multi-centre clinical investigation. It also aimed to demonstrate the effect of EAS in individuals with residual low frequency hearing, both on speech perception and on subjective quality of life measures. PATIENTS AND METHODS: Eighteen patients with profound high frequency hearing loss were recruited in five participating European centres. Subjects were assessed based on an audiologic test battery, as well as on a subjective hearing aid benefit questionnaire. Each subject underwent attempted hearing preservation cochlear implantation using the MED-EL C40 + device with a Medium electrode. Residual ipsilateral hearing and speech discrimination abilities were assessed at defined intervals up to 12 months after the combined electric-acoustic mode was introduced. RESULTS: Results showed that some degree of hearing preservation was possible in 15718 patients. All subjects showed statistically significant benefit on all three speech perception tests over time. These significant benefits were also reflected in the subjective benefit outcomes.

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.

Autosomal recessive nonsyndromic hearing impairment (NSHI) is a heterogeneous condition, for which 53 genetic loci have been reported, and 29 genes have been identified to date. One of these, OTOF, encodes otoferlin, a membrane-anchored calcium-binding protein that plays a role in the exocytosis of synaptic vesicles at the auditory inner hair cell ribbon synapse. We have investigated the prevalence and spectrum of deafness-causing mutations in the OTOF gene. Cohorts of 708 Spanish, 83 Colombian, and 30 Argentinean unrelated subjects with autosomal recessive NSHI were screened for the common p.Gln829X mutation. In compound heterozygotes, the second mutant allele was identified by DNA sequencing. In total, 23 Spanish, two Colombian and two Argentinean subjects were shown to carry two mutant alleles of OTOF. Of these, one Colombian and 13 Spanish subjects presented with auditory neuropathy. In addition, a cohort of 20 unrelated subjects with a diagnosis of auditory neuropathy, from several countries, was screened for mutations in OTOF by DNA sequencing. A total of 11 of these subjects were shown to carry two mutant alleles of OTOF. In total, 18 pathogenic and four neutral novel alleles of the OTOF gene were identified. Haplotype analysis for markers close to OTOF suggests a common founder for the novel c.2905_2923delinsCTCCGAGCGCA mutation, frequently found in Argentina. Our results confirm that mutation of the OTOF gene correlates with a phenotype of prelingual, profound NSHI, and indicate that OTOF mutations are a major cause of inherited auditory neuropathy.