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BACKGROUND: Several studies have demonstrated that the prevalence of temporomandibular disorders (TMDs) in tinnitus patients ranges from 7% to 95%, and it is reported in literature that idiopathic tinnitus patients should be referred to a dentist to define whether or not the tinnitus is associated with TMD. However, the possible pathophysiological relation between TMDs and tinnitus is not generally investigated in clinical practice. METHODS: The patterns and forces of occlusal contacts have been studied by means of T-scan III in 47 tinnitus patients (23 suffering from idiopathic tinnitus and 24 affected by Ménière disease [MD]) and 13 healthy subjects. RESULTS: The center of force target was offset in the opposite direction in 15/23 idiopathic tinnitus and in 7/24 MD patients (p = 0.026). No significant variation was found in the occlusal force. CONCLUSIONS: Our data suggest that a diagnostic screening method for occlusal stability in the intercuspidal position might be clinically useful in idiopathic tinnitus patients.

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BACKGROUND: Sudden sensorineural hearing loss (ISSHL) is idiopathic in 85% of cases and cochlear micro-thrombosis has been hypothesized as pathogenic mechanism. The role of thrombophilia and cardiovascular risk factors in ISSHL is controversial and whether these risk factors influence the clinical outcome of ISSHL is unknown. METHODS: and patients To investigate the role of thrombophilia and cardiovascular risk factors in ISSHL and to evaluate their influence on clinical outcome of the disease, 118 patients with a first episode of ISSHL and 415 healthy controls were investigated. Thrombophilia screening included measurements of antithrombin, protein C, protein S, factor V Leiden, prothrombin G20210A, antiphospholipid antibodies, fibrinogen, factor VIII and homocysteine. RESULTS: Deficiencies of antithrombin, protein C or S taken together, high factor VIII and hyperhomocysteinemia were significantly associated with ISSHL (OR [95%CI]: 7.55 [1.05-54.47], 2.91 [1.31-6.44] and 2.69 [1.09-6.62], respectively), whereas no association was found with the remaining thrombophilia markers. A 2-fold increased risk of poor clinical outcome was observed for every 5 µmol/L increase of fasting homocysteine levels (adjusted OR [95%CI]) 2.13 [1.02-4.44]) until levels of approximately 15 µmol/L, then the risk increased slowly. Cardiovascular risk factors (arterial hypertension, hyperlipidemia, diabetes and smoking) were associated with an increased risk of ISSHL (OR [95%CI] 1.88 [1.17-3.03]) and with a poor clinical outcome (OR [95%CI] 2.22 [0.93-5.26]). CONCLUSIONS: Hyperhomocysteinemia, high factor VIII and, with more uncertainty, deficiencies of antithrombin, protein C or S and cardiovascular risk factors increase the risk of ISSHL. Hyperhomocysteinemia and cardiovascular risk factors are associated with a poor clinical outcome of ISSHL.

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Next-generation sequencing is currently the technology of choice for gene/mutation discovery in genetically-heterogeneous disorders, such as inherited sensorineural hearing loss (HL). Whole-exome sequencing of a single Italian proband affected by non-syndromic HL identified a novel missense variant within the PRPS1 gene (NM_002764.3:c.337G>T (p.A113S)) segregating with post-lingual, bilateral, progressive deafness in the proband's family. Defects in this gene, encoding the phosphoribosyl pyrophosphate synthetase 1 (PRS-I) enzyme, determine either X-linked syndromic conditions associated with hearing impairment (eg, Arts syndrome and Charcot-Marie-Tooth neuropathy type X-5) or non-syndromic HL (DFNX1). A subsequent screening of the entire PRPS1 gene in 16 unrelated probands from X-linked deaf families led to the discovery of two additional missense variants (c.343A>G (p.M115V) and c.925G>T (p.V309F)) segregating with hearing impairment, and associated with mildly-symptomatic peripheral neuropathy. All three variants result in a marked reduction (>60%) of the PRS-I activity in the patients' erythrocytes, with c.343A>G (p.M115V) and c.925G>T (p.V309F) affecting more severely the enzyme function. Our data significantly expand the current spectrum of pathogenic variants in PRPS1, confirming that they are associated with a continuum disease spectrum, thus stressing the importance of functional studies and detailed clinical investigations for genotype-phenotype correlation.

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OBJECTIVES: The aim of this study was to focus on patients suffering from cochleo-vestibular disorder with and without Ménière disease (MD) in order to verify whether chronic cerebrospinal drainage abnormalities could play a role in the etiopathogenesis of endolymphatic hydrops. METHODS: Fifty-two volunteers were enrolled and subdivided into two groups: 24 definite MD and 28 not-MD. Both magnetic resonance venography imaging with contrast-enhanced imaging of the venous cerebrospinal system (MRV) and venous echo-color Doppler (ECD) were performed. RESULTS: MRV showed abnormalities in 83% of MD and 57% of not-MD subjects (p < 0.001). Asymmetrical cervical venous flow, assessed by MRV, was confirmed by ECD in 62.5% of MD but in only 21.5% of not-MD subjects (p<0.001). CONCLUSION: Chronic cerebrospinal venous insufficiency might be the anatomical background, which provides a predisposing factor for the development of endolymphatic hydrops in MD patients.

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OBJECTIVE: To assess if young subjects affected by Williams syndrome (WS) with normal middle ear functionality and normal hearing thresholds might have subtle auditory dysfunctions that could be detected by using clinically available measurements. METHODS: Otoscopy, acoustic reflexes, tympanometry, pure-tone audiometry, and distortion product otoacoustic emissions (DPOAEs) were measured in a group of 13 WS subjects and in 13 age-matched, typically developing control subjects. Participants were required to have normal otoscopy, A-type tympanogram, normal acoustic reflex thresholds, and pure-tone thresholds≤15 dB HL at 0.5, 1, and 2 kHz bilaterally. To limit the possible influence of middle ear status on DPOAE recordings, we analyzed only data from ears with pure-tone thresholds≤15 dB HL across all octave frequencies in the range 0.25-8 kHz, middle ear pressure (MEP)>-50 daPa, static compliance (SC) in the range 0.3-1.2 cm3, and ear canal volume (ECV) in the range 0.2-2 ml, and we performed analysis of covariance to remove the possible effects of middle ear variables on DPOAEs. RESULTS: No differences in mean hearing thresholds, SC, ECV, and gradient were observed between the two groups, whereas significantly lower MEP values were found in WS subjects as well as significantly decreased DPOAEs up to 3.2 kHz after adjusting for differences in middle ear status. CONCLUSIONS: Results revealed that WS subjects with normal hearing thresholds (≤15 dB HL) and normal middle ear functionality (MEP>-50 daPa, SC in the range 0.3-1.2 cm3, ECV in the range 0.2-2 ml) might have subtle auditory dysfunctions that can be detected by using clinically available methods. Overall, this study points out the importance of using otoacoustic emissions as a complement to routine audiological examinations in individuals with WS to detect, before the onset of hearing loss, possible subtle auditory dysfunctions so that patients can be early identified, better monitored, and promptly treated.

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We report the case of a man affected by a unilateral Ménière's disease who, after being free from vertigo spells and tinnitus for more than ten years, manifested an exacerbation of symptoms just before the diagnosis of a choroidal melanoma. Melanoma is an aggressive form of cancer derived from neuroectodermal melanocytes. Melanocytes are present in the inner ear where they contribute to the production of endolymphatic potentials and to the maintenance of normal volumes of the inner ear fluids. A possible autoimmune connection between the exacerbation of audiovestibular symptoms and melanoma is discussed.

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Although many studies have been carried out regarding postural stability during pediatric age, reliable information and a complete analysis of all age groups are still lacking. The purpose of this study was to verify the test-retest reliability of posturographic parameters in four sensory conditions and provide normative values for children and young adolescents. 289 subjects, aged 6-14 years, were assessed by means of the static posturography system SVeP. 173 elementary school pupils (114 males and 59 females, aged 6-10 years; mean age 8.80 ± 1.53) and 116 middle school students (60 males and 56 females, aged 11-14 years; mean age 12.6 ± 0.9) underwent static posturography in two consecutive trials with four testing conditions: eyes open and eyes closed with and without foam pads. The participants were divided into nine age groups. Thirty healthy young adults were also recruited for comparison. The analysis of test-retest reliability demonstrated an excellent reliability of velocity measurement and a moderate reliability of area measurement. Velocity and area decreased significantly with age in all sensory conditions, indicating an improvement in postural control from childhood to adolescence. Postural stability had not reached the adult level by the age of 13-14 years. Reliable information regarding postural stability can be obtained in children and young adolescents by means of stabilometric parameters. These data can be used as a reference for early detection of atypical postural development and for the assessment of dizziness and balance disorders in children.

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Williams syndrome is a neurodevelopmental disorder associated with cardiovascular problems, facial abnormalities and several behavioural and neurological disabilities. It is also characterized by some typical audiological features including abnormal sensitivity to sounds, cochlear impairment related to the outer hair cells of the basal turn of the cochlea, and sensorineural or mixed hearing loss, predominantly in the high frequency range. The aim of this report is to describe a follow-up study of auditory function in a cohort of children affected by this syndrome. 24 patients, aged 5-14 years, were tested by means of air/bone conduction pure-tone audiometry, immittance test and transient evoked otoacoustic emissions. They were evaluated again 5 years after the first assessment, and 10 of them underwent a second follow-up examination after a further 5 years. The audiometric results showed hearing loss, defined by a pure tone average >15 dB HL, in 12.5% of the participants. The incidence of hearing loss did not change over the 5-year period and increased to 30% in the patients who underwent the 10-year follow-up. Progressive sensorineural hearing loss was detected in 20% of the patients. A remarkable finding of our study regarded sensorineural hearing impairment in the high frequency range, which increased significantly from 25% to 50% of the participants over the 5-year period. The increase became even more significant in the group of patients who underwent the 10-year follow-up, by which time the majority of them (80%) had developed sensorineural hearing loss. Otoacoustic emissions were found to be absent in a high percentage of patients, thus confirming the cochlear fragility of individuals with Williams syndrome. Our study verified that most of the young Williams syndrome patients had normal hearing sensitivity within the low-middle frequency range, but showed a weakness regarding the high frequencies, the threshold of which worsened significantly over time in most patients.

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We report the case of a 63-year-old female with definite unilateral Ménière disease, osteoarthritis of the distal finger joints with mucous cysts and Heberden's nodes, and constipation with recurrent abdominal pain whose symptoms remitted after 6months of a restrictive gluten-free diet.

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Public awareness of audiological issues has never been measured in the general public even if the World Health Organization (WHO) has detected a common urgent need for action to prevent and manage ear diseases and hearing loss. The aim of this study was to measure urban community citizens' awareness of managing and preventing ear disease and hearing loss using a specific questionnaire. A questionnaire was formulated on the basis of WHO material concerning the major specific audiological issues and attitudes, focusing in particular on four domains: (1) knowledge of infant hearing loss, (2) correct management of the ears including cleaning and treating, (3) focus on the effect of overexposure to loud sounds and noise, (4) underestimated ear symptoms leading to diagnostic delay. 254 volunteers were enrolled in this cross-sectional study by a team of medical doctors and audiologists stationed in a mobile unit that visited different areas of Milan, Italy. More than 80% of correct responses were given to almost all of the statements by the interviewees, although certain important knowledge was found to be lacking. The proposed audiological questionnaire seems to be a suitable tool to evaluate the public awareness of ear and hearing management. The results showed a need for continued development of comprehensive hearing conservation programs, focused on hearing aid management and early infant hearing loss identification as well as noise exposure.

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INTRODUCTION: In our clinical experience, some of the patients affected by benign paroxysmal positional vertigo (BPPV) reported the onset of tinnitus shortly before or in association with the positional vertigo. OBJECTIVES: The aim of this study was to describe the prevalence and the clinical patterns of tinnitus episodes which occurred in association with BPPV and to suggest possible interpretative hypotheses. METHODS: 171 normal hearing patients affected by BPPV (50 males and 122 females; age range: 25-77 years; mean age 60.3 years ± 14.9) underwent pure tone audiometry, immittance test and a clinical vestibular evaluation before and after repositioning manoeuvers. Those suffering from tinnitus were also assessed using visual analogue scales and tinnitus handicap inventory. RESULTS: 19.3% of the patients reported the appearance of tinnitus concurrently with the onset of the positional vertigo. It was mostly unilateral, localized on the same ear as the BPPV, slight in intensity and intermittent. Tinnitus disappeared or decreased in all patients except two, either spontaneously, before performing the therapeutic manoeuvers, or shortly after. CONCLUSIONS: A possible vestibular origin of tinnitus determined by the detachment of macular debris into the ductus reuniens and cochlear duct is discussed.

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We report a case of a patient complaining of severe high pitched tinnitus, dizziness, joint/muscle pain and gastrointestinal symptoms. A mild high-frequency sensorineural hearing loss of cochlear origin was diagnosed in the ear where tinnitus was present. The patient reported a considerable decrease in tinnitus and other symptoms with a gluten-free diet. Gluten sensitivity may have contributed to the pathogenesis of tinnitus in our patient; further research is needed to determine the exact role of gluten in this condition.

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Impaired control of balance has been described in Williams syndrome (WS). The aim of this study was to investigate balance function by means of clinical and instrumental tests in order to measure postural sway in people with WS in an objective way. 23 WS patients (11 males, 12 females, mean age 17.52 ± 8.33 years) and 23 healthy subjects (11 males, 12 females, mean age 17.74 ± 8.93 years) performed static posturography with eyes open and closed, on a firm surface and on foam pads. The WS patients had higher mean length, velocity and surface values than controls under all of the test conditions, and their length and surface values were significantly higher in the eyes open test. The cognitive abilities of the WS patients were not related to their stabilometric performance. The greatest differences between the WS patients and the controls were found mainly in the older subjects. WS patients are more unstable than healthy subjects of the same age, particularly when they use visual information to maintain their balance: i.e. under conditions of normal everyday life. Possible explanations may be the ophthalmologic problems and the visuospatial difficulties attributed to a neural processing abnormality involving the dorsal stream impairment model. The balance function of WS patients is different from that of normal developing subjects, especially after adolescence when postural control is generally complete. This suggests an atypical developmental trajectory.

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OBJECTIVE: Several studies have demonstrated that adult subjects with Down's syndrome (DS) and hearing impairments show significantly delayed latencies in auditory late potentials (ALPs). The aim of this study was to investigate whether the differences were still present in ALPs in an adult DS population with normal hearing, taking into consideration sex, handedness, and head size. STUDY DESIGN: Prospective study. SETTING: Audiology unit of the hospital Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. PATIENTS: Sixteen normal-hearing adult DS subjects referred to the health monitoring program for DS patients of Vivi Down Onlus Association in Milan, Italy (7 male subjects with a mean age of 26 ± 7.74 yr and 9 female subjects with a mean age of 28 ± 8.63 yr) and 16 controls (7 male subjects with a mean age of 26 ± 7.74 yr and 9 female subjects with a mean age of 28 ± 8.86 yr) matched for sex, age, and handedness. MAIN OUTCOME MEASURE: The 2 negative peaks, N1 and N2, and the 2 positive peaks, P1 and P2, of ALP. RESULTS: ALP N1 and P2 components were well defined in all subjects. The P1 and N2 components were less evident than the others. There were significant delayed latencies in the DS group with respect to the control subjects for P1, N1, P2, and N2 components. CONCLUSION: Our study demonstrated that ALP longer latencies are present in adult DS participants even when they have a normal hearing threshold, regardless of handedness and head size.

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OBJECTIVES: The aim of this study was to design a complementary speech audiometry test using verbal tasks and motor responses (VTMR) to assess the ability of a subject to understand and perform simple motor tasks with 3-dimensional objects, to describe its construction, and to show the preliminary results of a pilot study on the Italian version of the test. METHODS: The items used in the test setting included 1 base, 1 hammer, 1 wooden structure with 4 sticks, and 5 rings of different colors and 20 lists with 5 verbal tasks per list. The VTMR test and bisyllabic speech audiometry were evaluated in normal-hearing subjects with and without cognitive impairment and in subjects with sensorineural hearing loss. RESULTS: All normal-hearing subjects without cognitive impairment performed the VTMR tasks (100%) correctly at 35 dB sound pressure level. In subjects with sensorineural hearing loss, the percentage of correct answers was significantly higher for the VTMR test than for bisyllabic speech audiometry above 50 dB sound pressure level. This percentage was higher for the VTMR also in normal-hearing subjects with poor cognitive skills. CONCLUSIONS: The VTMR might make it easier to check patients' ability to understand verbal commands than does traditional speech audiometry, in particular in those patients with poor test-taking skills.

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The aim of this study was to investigate, in a clinical setting, the auditory function of a group of individuals affected by Williams syndrome (WS). Sixty-nine patients with WS, aged 2-30, underwent comprehensive audiological testing including air/bone conduction behavioral audiometry, speech audiometry, tympanometry and measurement of the acoustic reflex, transient evoked otoacoustic emissions and brainstem auditory evoked responses. Hearing loss, defined by a pure-tone average above 15 dB HL, affected 22.6% of the patients studied with traditional audiometry and was mostly slight in severity. Hearing loss was conductive in 9.4% of patients, mainly children with otitis media with effusion, and sensorineural in 13.2% of patients. However, 30% of the ears studied had a hearing impairment in the high frequency range (high-frequency pure-tone audiometry above 15 dB HL), higher in participants above 15 years (46.15%) than in the younger ones (23.45%). Contralateral stapedial reflexes were present in all patients with A-type tympanograms. Transient otoacoustic emissions were absent in 44% of the ears of patients with normal hearing. Brainstem auditory evoked responses fell within normal ranges thus confirming the absence of retrocochlear dysfunction. Although hearing loss does not seem to be frequent, a cochlear fragility, especially in the high frequency range, related to outer hair cells is characteristic of WS. Therefore we strongly recommend monitoring patients affected by WS using annual audiometric tests and performing otoacoustic emissions in order to identify a subclinical cochlear dysfunction which might benefit from an audiological follow up before the possible onset of hearing loss.

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OBJECTIVES/HYPOTHESIS: Wheat is one of the most common food allergens found in patients with Meniere's disease (MD). Gluten from wheat has been identified to have a etiopathogenetic role in celiac disease, IgE hypersensitivity to wheat disease, and recently to gluten sensitivity. The aim of this study was to verify the incidence of gliadin prick test response in patients affected by MD. STUDY DESIGN: Prospective individual case-control study. METHODS: There were 58 adult patients with definite MD, 25 healthy volunteers, and 25 patients with grass pollen rhinoconjunctivitis tested with skin prick test to gliadin. RESULTS: A total of 33 MD patients (56.9%) proved to be sensitive to gliadin, eight of whom were positive to prick test after 20 minutes, 13 after 6 hours, 11 after 12 hours, and one after 24 hours. CONCLUSIONS: This is the first report of gliadin skin test response in MD. Further studies are needed to define the relationship between immune response to wheat proteins and MD symptoms.

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Balance disorders are commonly observed during the course of multiple sclerosis (MS). The aim of this study is to report characteristics of MS patient stance control disorders, measured by means of posturography and related to the brainstem lesions. Thirty-eight patients affected by MS, mildly to moderately disable according to Kurtzke's Expanded Disability Status Scale, underwent a complete clinical neurological and vestibular evaluation and brain MRI scanning. All patients were then tested on a static posturography platform (Tetrax, Israel) in four conditions: eyes open and eyes closed standing on a firm surface and on a foam pad. Clinical and/or magnetic resonance imaging evidence of brainstem involvement was observed in 55.3% of patients. When brainstem lesion was detected, Fourier analysis showed a typical pattern characterized by inversion of the 0-0.1 Hz and 0.1-0.25 Hz frequency bands. In conclusion, MS leads to pervasive postural disturbances in the majority of subjects, including the visuo-vestibular loops and proprioception involving vestibulo-spinal pathways in at least 55.3% of patients. Our results may also suggest the presence of Fourier inversion in patients with brainstem lesions.

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The miR-96, miR-182 and miR-183 microRNA (miRNA) family is essential for differentiation and function of the vertebrate inner ear. Recently, point mutations within the seed region of miR-96 were reported in two Spanish families with autosomal dominant non-syndromic sensorineural hearing loss (NSHL) and in a mouse model of NSHL. We screened 882 NSHL patients and 836 normal-hearing Italian controls and identified one putative novel mutation within the miR-96 gene in a family with autosomal dominant NSHL. Although located outside the mature miR-96 sequence, the detected variant replaces a highly conserved nucleotide within the companion miR-96*, and is predicted to reduce the stability of the pre-miRNA hairpin. To evaluate the effect of the detected mutation on miR-96/mir-96* biogenesis, we investigated the maturation of miR-96 by transient expression in mammalian cells, followed by real-time reverse-transcription polymerase chain reaction (PCR). We found that both miR-96 and miR-96* levels were significantly reduced in the mutant, whereas the precursor levels were unaffected. Moreover, miR-96 and miR-96* expression levels could be restored by a compensatory mutation that reconstitutes the secondary structure of the pre-miR-96 hairpin, demonstrating that the mutation hinders precursor processing, probably interfering with Dicer cleavage. Finally, even though the mature miR-96 sequence is not altered, we demonstrated that the identified mutation significantly impacts on miR-96 regulation of selected targets. In conclusion, we provide further evidence of the involvement of miR-96 mutations in human deafness and demonstrate that a quantitative defect of this miRNA may contribute to NSHL.

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