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Objective: The aim of this multicentric cross-sectional study was to collect phenotypes and clinical variability on a large sample of 244 patients enrolled in different university centers in Italy, trying to differentiate subtypes of VM. Background: VM is one of the most frequent episodic vertigo characterized by a great clinical variability for duration of attacks and accompanying symptoms. Diagnosis is based only on clinical history of episodic vertigo in 50% of cases associated with migrainous headache or photo/phonophobia. Methods: We enrolled in different university centers 244 patients affected by definite VM according to the criteria of the Barany Society between January 2022 and December 2022. An audiometric examination and a CNS MRI were performed before inclusion. Patients with low-frequency sensorineural hearing loss were not included, as well as patients with an MRI positive otherwise that for microischemic lesions. Patients were asked to characterize vestibular symptoms choosing among (multiple answers were allowed): internal vertigo, dizziness, visuo-vestibular symptoms/external vertigo; onset of vertigo and duration, neurovegetative, and cochlear accompanying symptoms (hearing loss, tinnitus, and fullness during attacks) were collected as well as migrainous headache and/or photo/phonophobia during vertigo; autoimmune disorders were also analyzed. A bedside examination was performed including study of spontaneous-positional nystagmus with infrared video goggles, post head shaking ny, skull vibration test, and video head impulse test. Results: We included 244 subjects, 181 were females (74.2%). The age of onset of the first vertigo was 36.6 ± 14.5 while of the first headache was 23.2 ± 10.1. A positive correlation has been found between the first headache and the first vertigo. The mean duration of vertigo attacks was 11 ± 16 h. We carried on a cluster analysis to identify subgroups of patients with common clinical features. Four variables allowed to aggregate clusters: age of onset of vertigo, duration of vertigo attacks, presence of migrainous headache during vertigo, and presence of cochlear symptoms during vertigo. We identified 5 clusters: cluster 1/group 1 (23 subjects, 9.4%) characterized by longer duration of vertigo attacks; cluster 2/group 2 (52 subjects, 21.3%) characterized by absence of migrainous headache and cochlear symptoms during vertigo; cluster 3/group 3 (44 subjects, 18%) characterized by presence of cochlear symptoms during vertigo but not headache; cluster 4/group 4 (57 subjects, 23.4%) by the presence of both cochlear symptoms and migrainous headache during vertigo; cluster 5/group 5 (68 subjects, 27.9%) characterized by migrainous headache but no cochlear symptoms during vertigo. Conclusion: VM is with any evidence a heterogeneous disorder and clinical presentations exhibit a great variability. In VM, both symptoms orienting toward a peripheral mechanism (cochlear symptoms) and central ones (long lasting positional non-paroxysmal vertigo) may coexist. Our study is the first published trying to characterize subgroups of VM subjects, thus orienting toward different pathophysiological mechanisms. [ABSTRACT FROM AUTHOR]

Background: Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes. Macrocytic anemia and diabetes may be responsive to high-dosage thiamine treatment, in contrast to sensorineural deafness. Little is known about the efficacy of thiamine treatment on ocular manifestations. Cases presentation: Our objective is to report data from four Italian TRMA patients: in Cases 1, 2 and 3, the diagnosis of TRMA was made at 9, 14 and 27 months. In 3 out of 4 subjects, thiamine therapy allowed both normalization of hyperglycemia, with consequent insulin suspension, and macrocytic anemia. In all Cases, thiamine therapy did not resolve the clinical manifestation of deafness. In Cases 2 and 3, follow-up showed no blindness, unlike Case 4, in which treatment was started for megaloblastic anemia at age 7 but was increased to high doses only at age 25, when the genetic diagnosis of TRMA was performed. Conclusions: Early institution of high-dose thiamine supplementation seems to prevent the development of retinal changes and optic atrophy in TRMA patients. The spectrum of clinical manifestations is broad, and it is important to describe known Cases to gain a better understanding of this rare disease. [ABSTRACT FROM AUTHOR]

OBJECTIVES: The aim of the present study was to investigate current treatment practices and self-reported effectiveness in Ménière's disease. MATERIALS and METHODS: Members of two Italian Ménière's disease support (n=170) with ≥6-month history of Ménière's disease were administered an online survey about recent treatments. Vertigo episode count, work absenteeism, and limitations in family life, social life, work, or travel as included in the Social Life and Work Impact of Dizziness Questionnaire before and after recent treatments were queried. RESULTS: Twenty-four different treatments were reported for Ménière's disease, with dietary modifications (55%), diuretics (47%), and betahistine (41%) being the most common. The majority (71%) received multiple simultaneous treatments. Prior to the most recent treatments, 78%-89% of respondents indicated limitations in family or social life, work, or traveling. After their most recent treatment, respondents reported improvements in mean vertigo episode counts (5.7±7.6 vs. 2.6±4.6, p<0.001), days off work per month (10.1±9.2 vs. 4.2±6.7, p<0.001), and proportions indicating limitations in any functional measure assessed (p<0.05). These findings were consistent regardless of treatment approach (p<0.05 for all). Intratympanic gentamicin provided the greatest reductions in vertigo count, functional limitations, and work absenteeism (p<0.01 for all), as well as the fewest respondents reporting post-treatment functional limitations (16%-37%). CONCLUSION: Despite many treatment approaches targeting different proposed pathophysiology for Ménière's disease in this cross-sectional survey, all treatments are reported as effective by patients. These findings support a prominent placebo effect in Ménière's disease and highlight challenges in studying treatment outcomes; there is a critical need to better understand Ménière's disease. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the frequency of GJB2 mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 102 Sicilian NSHL patients. Results: Fifteen different mutations in GJB2 and seventeen different genotypes were detected. No GJB6 mutations were found. The hearing impairment was profound in the 64.72% of probands (mean PTA0.25-4 kHz of 88.82 ± 26.52 dB HL). A total of 81.37% of patients harboured at least one c.35delG allele; c.167delT and c.-23 + 1G> A were identified in 10.78% and the 9.8% of patients respectively; c.35delG homozygotes presented more severe hearing impairment (75.59% of profound hearing loss) and a higher mean PTA0.25-4 kHz (96.79 ± 21.11 dB HL) with respect to c.35delG/non-c.35delG and c.35delG/Wt patients (P < 0.05). Conclusions: This work underlines the role of c.35delG, c.167delT and c.-23 + 1G> A as the most frequent causes of NSHL in Sicily. The c.35delG frequency found is similar to those reported in other populations of the Mediterranean area. The analysis of genetic and audiologic data confirmed a variability in the phenotype associated to a single genotype. [ABSTRACT FROM AUTHOR]

Conclusion: The results demonstrate the stability of the efficacy over time of the intratympanic prednisolone protocol and they suggest that the spontaneous recovery does not significantly influence the long-term evaluation of intratympanic therapy. A 10-day follow-up after 3 days of intratympanic prednisolone administration can be considered a sufficient period to evaluate the effectiveness of the undertaken therapy. Objective: To assess the stability of the efficacy over time of intratympanic steroid therapy for patients with idiopathic sudden sensorineural hearing loss. Methods: A total of 122 patients received an intratympanic steroid injection of prednisolone daily for 3 days. Audiograms were performed before therapy and at 10 days and 1 year after therapy. Successful recovery was defined as complete and partial recovery using Siegel's criteria and complete and marked recovery following Furuhashi's criteria. Results: The comparison of audiometric data at study entry, at 10 days, and at 1 year after the treatment showed a statistically significant improvement of the mean pure tone audiometry. The evaluation of the hearing outcomes demonstrated a statistically significant improvement, with similar success rates when evaluated 10 days and 1 year after the treatment. Comparing the hearing outcomes at 1 year with the results at 10 days, no significant difference was detected between these two time points. [ABSTRACT FROM AUTHOR]

Conclusion: The excellent tolerability of intratympanic (IT) steroid offers the possibility to use a high dose, which would appear to be more effective than intravenous (IV) steroid treatment, when both are associated with hyperbaric oxygen (HBO) therapy. Objective: The purpose of the study was to assess for the first time the efficacy of the association of IT steroid and HBO therapy in patients presenting idiopathic sudden sensorineural hearing loss (ISSNHL), comparing this protocol with another consisting of IV steroid administration and HBO therapy. Methods: A total of 48 patients presenting ISSNHL were recruited. Patients were divided into two categories: the severe ISSNHL group with a pure-tone average (PTA) between 70 and 90 dB, and the profound ISSNHL group with a PTA >90 dB. The first protocol consisted of 10 days of HBO therapy together with IV methylprednisolone 1 mg/kg body weight for 7 days; the second protocol consisted of HBO therapy for 10 days, associated with an IT injection of prednisolone at a dose of 62.5 mg/ml, once a day for 3 consecutive days, performed 2 h before the HBO therapy. Results: The overall success rate was superior in the group submitted to IT steroid and HBO therapy. Nevertheless, these clinical results were not statistically significant. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To determine the feasibility and effectiveness of well-infant nursery hearing screening programme for the early identification of hearing impairment, based on transient evoked otoacoustic emission (TEOAE) with a high “screen sensitivity” reducing the number of more expensive secondary level exams. Methods: The newborns were screened by non-specialist health workers in well babies nursery at the twentieth day of life for 6 years consecutive. Based on PASS/FAIL criteria and presence/absence of audiological risk factors the newborns were divided into four groups each one with its personal step programme: G1 – PASS without risk factor, free to go home; G2 – PASS with risk factor, retest at the age of 7 months; G3 – FAIL without risk factor, re-screening after 2 weeks for a maximum of four times before audiology assessment; G4 – FAIL with risk factor, retest after 2 weeks. Results: The coverage rate increased progressively from 89.8% to 92%. The referral rate was 1.51% after second stage with a specificity value of 98.78%. The four-stage screening performed for G3 reduced the numbers of global audiology assessment to 0.91% with a final global specificity of 99.4±0.4%. Conclusion: Less than 1% of infants underwent audiological assessment; the false positives resulted 0.62% with hearing loss global incidence of 2.95/1000 and a mean age of confirmation of 3.5 months of age. It is reasonable to think that this screening programme could be implement to overall 42 Western Sicily birth centres within few years. [Copyright &y& Elsevier]

Objective:To describe the effect of age and noise on high frequency hearing thresholds in an Italian population aged 70 years and older, in order to investigate the interaction between presbycusis and noise exposure.Methods:We compared 460 subjects: 367 affected by presbycusis alone (204 women and 163 men) and 93 affected by presbycusis and noise exposure (eight women and 85 men). Pure tone average hearing thresholds, for each ear, were compared between groups, and between sexes and ages within groups.Results:A slight threshold difference was found between the two groups at 4 kHz. After adjusting for age and gender, this difference was found to be related only to differing patient age. Men's and women's thresholds differed significantly in both groups, especially at high frequencies, at which threshold deterioration was worse in men than women.Conclusion:The threshold differences between patients with presbycusis with and without noise exposure were limited. Larger studies are needed to assess the relative effects of ageing and noise exposure on hearing thresholds. [ABSTRACT FROM PUBLISHER]

Conclusion: Our results attest that the Otologics MET Carina™ is a viable treatment for moderate to severe sensorineural hearing loss (SNHL) and for cases of mixed hearing loss, and that in selected cases it could represent an alternative to conventional hearing aids. Objectives: To describe our experience with the fully implantable Carina™ in eight adult patients, seven with moderate to severe SNHL and one with mixed hearing loss. Methods: Eight implanted adult patients were submitted to a comprehensive audiological evaluation. Results: We did not record any surgical relevant complication in any of the patients, nor any significant postoperative variation in hearing thresholds, for air conduction or bone conduction, indicating the absence of surgical damage to the cochlea. All the patients demonstrated improvements in speech perception abilities with the device functioning and reported subjective benefits. With regard to the postoperative adverse effects, we had problems with feedback noise, which resolved with minor fitting adjustments in seven cases, while it required a second surgery to change the microphone position in the other patient. In one case a minimal extrusion of the microphone cable occurred requiring a revision surgery, a device failure occurred in one case, requiring substitution, and one patient decided on explantation of the device owing to psychological problems. [ABSTRACT FROM AUTHOR]

Abstract The aim of this study was to screen 349 patients affected by sensorineural hearing loss (SNHL), mostly from the Campania region (southern Italy), for GJB2 gene mutations and for two deletions of the GJB6 gene (del GJB6 -D13S1830 and del GJB6 -D13S1854). We identified pathogenetic GJB2 mutations in 51 cases (15% of patients). No GJB6 mutation was found. We also examined the audiologic features of the patients for whom we had an etiologic diagnosis, in order to identify correlations between the severity of hearing loss and the type of mutation. Sumario El objetivo de este estudio fue evaluar 349 pacientes afecta-dos de una hipoacusia sensorineural (SNHL), sobre todo de la región de Campania (Italia del sur), buscando muta-ciones en el gen GJB2 y dos deleciones en el gen GJB6 (del GJB6-D13S1830 y del GJB6-13S1854). Identifica-mos mutaciones patogénicas en 51 pacientes (15% de los pacientes). No se encontraron mutaciones del gen GJB6. También examinamos los rasgos audiológicos de aquellos pacientes de quienes teníamos diagnóstico etiológico, para identificar correlaciones entre la severidad de la pérdida audi-tiva y el tipo de mutación. [ABSTRACT FROM AUTHOR]

Conclusion.Our results suggest a rapid diffusion of newborn hearing screening programs in Italy and indicate that three conditions seem to play a crucial role in the implementation of Universal Newborn Hearing Screening (UNHS) programs: the size (>800 births/year) and location (metropolitan urban areas) of the hospital, and the presence of an audiologist in the UNHS coordinating team Objectives. The aim of this paper is to provide data on the degree of implementation and coverage of UNHS programs in Italy Materials and methods. Data were collected through a Screening Survey Questionnaire that was sent to all birthing hospitals active in Italy in 2006 and was filled in by the chief of the hospital or by the UNHS program coordinator Results. In Italy UNHS coverage had undergone a steep increase from 29.3% in 2003 (156 048 newborns screened) to 48.4% in 2006 (262 103 screened). The majority of UNHS programs were implemented in the two most economically developed areas, i.e. in the north-west area (79.5%, 108 200 of 136 109 births), and in the north-east area (57.2%, 52 727 of 92 133 births), while a limited diffusion still remains in some areas, typically in the islands (11.3%, 7158 of 63 460 births). [ABSTRACT FROM AUTHOR]

Objectives: We investigated the presence of congenital thrombophilic risk factors in a population of consecutive Italian patients affected by idiopathic sudden sensorineural hearing loss (SSNHL). Methods: We investigated 48 patients with idiopathic SSNHL for the presence of congenital thrombophilic risk factors. The factor V Leiden G1691A, the prothrombin G20210A allele, and methylenetetrahydrofolate reductase (MTHFR) C677T genotypes were investigated. Allele frequencies and genotype distribution of all factors found in patients were compared to those of 48 healthy subjects of the same ethnic background by χ² and odds-ratio analysis. Odds ratios and 95% confidence intervals were calculated for allele and genotype frequencies of all thrombophilia variants. Statistical significance was accepted with a p value of less than .05. We also performed the following blood tests: hemacytometric analysis including platelet count, prothrombin time, activated partial thromboplastin time, fibrinogen, erythrocyte sedimentation rate, C-reactive protein, protein S, protein C, antithrombin 111, and activated protein C resistance. Results: In our series, we did not find an association between SSNHL and abnormal levels of antithrombin 111, protein C, protein S, D-dimer, or fibrinogen; activated protein C resistance; or factor V G1691A, prothrombin G20210A, or MTHFR C677T mutations. Conclusions: At present, the few studies regarding genetic polymorphisms of congenital thrombophilic factors in SSNHL are not conclusive. According to our data, factor V G1691A, prothrombin G20210A, and MTHFR C677T variants should be not considered risk factors for SSNHL. Further large prospective studies are needed to provide currently lacking information and to improve our knowledge in the field before we recommend the determination of genetic polymorphism in SSNHL as routine practice. [ABSTRACT FROM AUTHOR]

A 6-year experience of the Italian Air Force Medical Selection Centre in the audiological evaluation of candidates for employment is summarized. Otoacoustic emissions (OAEs) were introduced progressively from 1993 to analyse more effectively subjects affected with sensorineural hearing loss and reduce possible bias connected to standard audiometric tests. OAEs provided a useful tool to support pure-tone audiometry, providing more accurate audiological data. Finally, a reduction of medico-legal claims was observed in candidates undergoing OAE testing. [ABSTRACT FROM AUTHOR]