Genetics of presbycusis and presbystasis.

Presbycusis and presbystasis represent relevant problems of aging, caused by the increase in life expectancy in developed countries. As such, it is advantageous to better understand the physiopathological mechanisms of these age-related inner ear diseases. The hypothesis that presbycusis and presbystasis have a genetic background was proposed some years ago. Several studies (in humans and animals) are available in the literature, and possible genes involved in the physiopathology of both diseases have been identified. The aim of this paper is to present an overview of the information available in the current medical literature on presbycusis and presbystasis.

Sudden hearing loss and the risk of subsequent cerebral ischemic stroke.

OBJECTIVE: Very few studies have investigated the risk of ischemic stroke after an episode of sudden sensorineural hearing loss (SSNHL), and findings have been controversial. The aim of this study was to estimate the risk of ischemic stroke among SSNHL patients within the province of Ferrara and compare the findings with data available in the literature. METHODS: This was a cohort study using hospital discharge records. The observation period was from 1 January 2001 to 31 December 2012. The study cohort consists of all adult patients hospitalized with a principal diagnosis of SSNHL (n = 484) and all adult patients with a diagnosis of ischemic stroke (n = 9985) among the resident population of the province of Ferrara, Emilia-Romagna, Italy. We calculated the incidence of SSNHL and ischemic stroke, as well as the incidence of ischemic stroke within the group of patients who experienced SSNHL. RESULTS: During the period 2001-2012 in Ferrara, the average annual crude incidence of SSNHL was 11.4/100,000 (95% CI 10.4-12.4), while the average annual crude incidence of the first ischemic stroke was 235.3/100,000. During the mean observation time period of 6 years, the expected and observed cases of ischemic stroke among the 484 patients with SSNHL did not differ significantly (6.8 expected vs. 9 observed [95% Poisson Confidence Interval 4.11-17.08]). CONCLUSIONS: Our findings suggest that SSNHL does not significantly increase the risk of ischemic stroke.

Mastoiditis in adults: a 19-year retrospective study.

The objective of our study was to review retrospectively the clinical, radiological and therapeutic findings in 62 adults with acute mastoiditis treated at the ENT Department of Ferrara from 1992 to 2010. 62 adult cases fulfilled the following inclusion criteria: otoscopical evidence of co-existent or recent otitis media; postauricular swelling, erythema or tenderness; protrusion of the auricle; fever and/or significant radiological findings of mastoiditis. Conservative treatment comprehended antibiotic ± ventilation tube. Surgical procedures comprehended mastoidectomy or mastoido-tympanoplasty. The incidence of adult's mastoiditis in our district (0.99 cases/year/100.000 inhabitants) has maintained quite stable during the considered 19-year period. The typical clinical presentation was observed in 48% of cases. Complications were meningitis (15 cases), meningo-encephalitis (1), meningitis associated with lateral sinus thrombosis (1), facial nerve paralysis (11), and labyrinthitis (8). In all cases except one, the facial palsy recovered completely and no mortality was observed due to these complications. Complete cure was obtained with conservative treatment in 69% of uncomplicated cases and in 24% of patients with intracranial complications. Mastoiditis in adults may present as the acute classical form, as well as latent forms which often have prolonged and insidious development followed by a rapid clinical deterioration. Clinical features are frequently atypical, while incidence of meningitis and other complications is still high particularly in the most elderly. Thus, great care is required from clinicians to make an early diagnosis in order to promote adequate treatment.

Postoperative complications in cochlear implants: a retrospective analysis of 438 consecutive cases.

Our objective is to determine the complication rate in a population of infants, children, adolescents and adults, from a University Hospital Cochlear Implant program and to discuss their causes and treatments. The methods include a retrospective study of 438 consecutive patients in a tertiary referral centre, the Audiology Department of the University Hospital of Ferrara. All patients receiving cochlear implants, between 1 January 2003 and 31 December 2009, have been included. All complications and treatments were systematically reviewed with an average duration of follow-up of 46 months (range 10-84 months). The results reveal that the overall rate of complications in our group was 9.1% (40 of 438), and most of them were minor. Wound swelling and infections represent the most common complication occurred. There were no cases of transient or permanent facial palsy following surgery, and also we did not register any case of postsurgical meningitis. Thirteen patients (3.0%) underwent explantation followed by reimplantation. In conclusion, we find that Cochlear implantation is a safe low-morbility technique with a relatively low complication rate in the presented population.

Diabetes, cardiovascular risk factors and idiopathic sudden sensorineural hearing loss: a case-control study.

AIMS/HYPOTHESIS: Idiopathic sudden sensorineural hearing loss (ISSNHL) represents an acute inner ear disorder with an overall incidence of 5-20/100000 individuals per year in western countries. No clear causes for this disease have been found so far, but cochlear ischemia has been hypothesized as one of the etiopathological mechanisms. The aim of our study was to assess the role of diabetes and traditional cardiovascular risk factors in the pathogenesis of ISSNHL. MATERIALS/METHODS: Case-control study of 141 patients (75 males/66 females) matched for age and gender. Cases were affected by ISSNHL, defined as a sudden hearing loss > or =30 dB, within 3 frequencies, developing over 72 h. The control group was composed of 271 sex- and age-matched subjects (142 males/129 females) who agreed to participate in this observational study and provided blood samples for laboratory investigations. Cardiovascular risk factors examined were: diabetes mellitus, smoking history, hypercholesterolemia, hypertriglyceridemia and hypertension. RESULTS: On the univariate analysis, diabetes prevalence was higher in the ISSNHL group (15.6%) compared to controls (8.5%) (p = 0.03). Also hypercholesterolemia was significantly more frequent in the ISSNHL group compared to the control population. There were no statistically significant differences between the 2 populations concerning other cardiovascular risk factors. The risk of ISSNHL tended to increase as the number of cardiovascular risk factors increased (p for linear trend = 0.018). CONCLUSIONS: Our findings suggest that diabetes mellitus, hypercholesterolemia and a high burden of cardiovascular risk factors are associated with the risk of ISSNHL.

Lateral sinus thrombosis as a complication of acute mastoiditis.

Lateral sinus thrombosis is a rare complication of middle ear diseases: in children, it is usually related to acute otitis media, but it is also found in adults with chronic otitis. It was more frequent in the pre-antibiotic era and mortality was high. The Authors present a paediatric case of lateral sinus thrombosis in which they describe the clinical approach and related literature.

Hearing threshold estimation by auditory steady state responses (ASSR) in children.

Hearing threshold identification in very young children is always problematic and challenging. Electrophysiological testing such as auditory brainstem responses (ABR) is still considered the most reliable technique for defining the hearing threshold. However, over recent years there has been increasing evidence to support the role of auditory steady-state response (ASSR). Retrospective study. Forty-two children, age range 3-189 months, were evaluated for a total of 83 ears. All patients were affected by sensorineural hearing loss (thresholds ≥ 40 dB HL according to a click-ABR assessment). All patients underwent ABRs, ASSR and pure tone audiometry (PTA), with the latter performed according to the child's mental and physical development. Subjects were divided into two groups: A and B. The latter performed all hearing investigations at the same time as they were older than subjects in group A, and it was then possible to achieve electrophysiological and PTA tests in close temporal sequence. There was no significant difference between the threshold levels identified at the frequencies tested (0.25, 0.5, 1, 2 and 4 kHz), by PTA, ABR and ASSR between the two groups (Mann Whitney U test, p < 0.05). Moreover, for group A, there was no significant difference between the ASSR and ABR thresholds when the children were very young and the PTA thresholds subsequently identified at a later stage. Our results show that ASSR can be considered an effective procedure and a reliable test, particularly when predicting hearing threshold in very young children at lower frequencies (including 0.5 kHz).

Parathyroid function study in patients submitted to laryngeal surgery for squamous cell carcinoma.

Aim of this study was to investigate any eventual quantitative variations in the serological concentration of parathormone in a homogenous sample of patients suffering from laryngeal squamous cell carcinoma who underwent only surgery. A total of 12 patients (2 female, 10 male), aged between 58 and 76 years, were treated between June 2002 and June 2003. The patients were all affected by T2-T3 laryngeal squamous cell carcinoma. Serum intact parathyroid hormone and calcaemia were measured pre- and post-operatively. Of these patients, 2 underwent total laryngectomy (including thyroid isthmectomy), 5 patients received partial supraglottic laryngectomy, while the remaining 5 were submitted to supracricoid laryngectomy. Results showed a progressive regression of parathyroid hormone level, in only one case and was not, however, below normal limits. Contrary to data reported in the literature, this study indicated that the incidence of hypoparathyroidism following laryngeal surgery, even in radical surgical approaches, proved to be closer to zero.

Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents.

BACKGROUND: Enlarged Vestibular Aqueduct (EVA) is one of the most common congenital malformations associated with sensorineural or mixed hearing loss. The association between hearing loss and EVA is described in syndromic (i.e. Pendred Syndrome, BOR, Waardenburg) and non-syndromic disorders, as isolate or familiar mutations of the SLC26A4 gene. The audiological phenotype of the EVA syndrome is heterogeneous, the type and entity of hearing loss may vary and vertigo episodes might also be present. OBJECTIVE: The aim of this retrospective study was to describe the clinical and genetic features of a group of adolescent subjects presenting an EVA clinical profile, considering the presence of SLC26A4 gene mutations. METHODS: 14 Caucasian patients were assessed (24 ears in total; 4 patients presented a monolateral EVA), 10 females and 4 males. Their age at the time of diagnosis was between 1 and 6 years (mean age 2.5 years). Subjects were assessed by an ENT microscopy evaluation with a complete audiometric assessment, CT & MRI scans and genetic tests for the evaluation of the pendrin gene mutations (SLC26A4). RESULTS: Considering the presence of SLC26A4 mutations and thyroid function, we could identify three sub-groups of patients: group 1, non syndromic EVA (ns EVA, no SLC26A4 mutation and no thyroid dysfunction); group 2, EVA with DFNB4 (single SLC26A4 gene mutation and no thyroid dysfunction); group 3, EVA with Pendred Syndrome (two pathological mutation of SLC26A4 and thyromegaly with thyroid dysfunction). Patients of group 1 (ns-EVA) showed various degrees of hearing loss from mild (55%) to severe-profound (45%). In groups 2 (DFNB4) and 3 (PDS), the degree of hearing loss is severe to profound in 70-75% of the cases; middle and high frequencies are mainly involved. CONCLUSIONS: The phenotypic expressions associated with the EVA clinical profile are heterogeneous. From the available data, it was not possible to identify a representative audiological profile, in any of the three sub-groups. The data suggest that: (i) a later onset of hearing loss is usually related to EVA, in absence of SLC26A4 gene mutations; and (ii) hearing loss is more severe in patients with SLC26A4 gene mutations (groups 2 and 3 of this study).

Immune-mediated inner ear disease.

The incidence of autoimmune inner ear disease (AIED) is difficult to determine: probably it is a rare disease, accounting for <1% of all cases of hearing impairment or dizziness. Nevertheless, the diagnosis of AIED might be overlooked because of the lack of a specific diagnostic test. The hallmark of this clinically diagnosed condition is the presence of a rapidly progressive, often fluctuating, bilateral sensorineural hearing loss (SNHL) over a period of weeks to months. The progression of hearing loss is too rapid to be diagnostic for presbycusis and too slow to conclude a diagnosis of sudden SNHL. Vestibular symptoms, such as generalized imbalance, ataxia, positional vertigo and episodic vertigo may be present in almost 50% of patients. Occasionally only one ear is affected initially, but bilateral hearing loss occurs in most patients, with symmetric or asymmetric audiometric thresholds. Almost 25-50% of patients also have tinnitus and aural fullness, which can fluctuate. Systemic autoimmune diseases coexist in 15-30% of patients.

Outcomes of long-term audiological rehabilitation in charge syndrome.

The aim of this paper is to assess the long-term audiological features and outcomes of hearing rehabilitation in a large group of individuals with CHARGE Syndrome. The study has been conducted retrospectively, on a paediatric patient database, at the Audiology Department of the University Hospitals of Ferrara and Padua. The study sample included 31 children presenting with different degrees of hearing impairment associated with CHARGE syndrome. Hearing was assessed using auditory brainstem responses (ABRs) and/or electrocochleography, or conditioned audiometry (visual reinforcement audiometry [VRA] or play audiometry). Auditory-perceptual outcomes in terms of communication skills and expressive language were also recorded. The effects of hearing rehabilitation (with hearing aids or cochlear implants) in this group of children and language outcomes after rehabilitation were monitored during long-term follow-up. The outcomes of rehabilitation measures differed in relation to the heterogeneous and often severe disabilities associated with CHARGE syndrome, e.g. developmental delay, intellectual delay, visual impairment, thin 8(th) nerve with retrocochlear auditory dysfunction (as described in cases of auditory neuropathy/dyssynchrony). Oral expressive language was severely impaired in most cases, even after lengthy follow-up, suggesting the need for alternative augmentative communication modes. The early identification of sensorineural hearing loss, and carefully planned rehabilitation treatments, can be of some benefit in children with CHARGE syndrome.

Post-operative pain management in head and neck cancer patients: predictive factors and efficacy of therapy.

There is increasing interest about all aspects of pain sensation for patients undergoing head and neck surgery, and efforts have been made to better assess, monitor and reduce the occurrence of pain. The aetiology of pain is considered to be "multifactorial", as it is defined by several features such as personal experience, quality perception, location, intensity and emotional impact. The aim of this paper is: (i) to evaluate the efficacy of analgesic treatment in patients with head and neck cancer treated by surgery, and (ii) to study the variables and predictive factors that can influence the occurrence of pain. A total of 164 patients, affected by head and neck cancer and surgically treated, between December 2009 and December 2013, were included in this study. Data collected include age, gender, assessment of anaesthetic risk, tumour localisation, pathological cancer stage, TNM stage, type of surgery performed, complexity and duration of surgery, post-operative complications, postoperative days of hospital stay and pain evaluation on days 0, 1, 3 and 5 post-surgery. We studied the appropriateness of analgesic therapy in terms of incidence and prevalence of post-operative pain; we also related pain to patient characteristics, disease and surgical treatment to determine possible predictive factors. The population studied received adequate pain control through analgesic therapy immediately post-surgery and in the following days. No associations between gender, age and post-operative pain were found, whereas pathological cancer stage, complexity of surgery and tumour site were significantly associated with the risk of post-operative pain. Adequate pain control is essential in oncological patients, and particularly in head and neck cancer patients as the prevalence of pain in this localisation is reported to be higher than in other anatomical sites. Improved comprehension of the biological and psychological factors that characterise pain perception will help to enhance its control in the future.

Idiopathic sudden sensorineural hearing loss: cardiovascular risk factors do not influence hearing threshold recovery.

Previous studies have suggested that risk factors for ischaemic vascular disease, such as cigarette smoking, hypertension and hyperlipidaemia, can also be considered risk factors for the development of idiopathic sudden sensorineural hearing loss (ISSNHL). In this study, we have evaluated the hypothesis that these factors can influence hearing threshold recovery in patients affected by ISSNHL. A total of 141 subjects who suffered an episode of ISSNHL were included. All subjects were assessed with tonal audiometry, auditory brainstem responses and MRI to exclude retrocochlear pathology. Hearing tests were conducted at ISSNHL onset (t = 0) and after 30 days. Patients were divided into three classes according to the presence/absence of one or more cardiovascular risk factors including: history of smoking, total serum cholesterol/triglycerides, history of hypertension and diabetes mellitus. Values of hearing threshold recovery were estimated and comparisons were conducted across the three risk factor classes. 75% of patients affected by ISSNHL showed a threshold recovery. However, the threshold recovery was found to be class-independent (average recovery value of 18 dB HL per classes) and also independent of age and gender. Even if cardiovascular risk factors have been found to be involved in the pathogenesis of ISSNHL, the present study suggests that these factors do not have any significant influence on the threshold recovery in ISSNHL.

Thyroid function studies in patients with cancer of the larynx: preliminary evaluation.

OBJECTIVE: Our goal was to evaluate thyroid function before and after surgery only or radiotherapy plus surgery for laryngeal neoplasms. STUDY DESIGN AND SETTING: The study group consisted of a total of 30 patients with laryngeal cancer (22 treated with surgery only and 8 treated with surgery plus radiotherapy) who were evaluated by ultrasensitive thyroid-stimulating hormone, free T4, and antithyroid antibodies both preoperatively and at 6 and 12 months after surgery. RESULTS: All patients had normal thyroid function before treatment (1 patient had elevated antithyroid autoantibodies); after 1 year, 4 (13.34%) patients were hypothyroid. In 3 patients, it was subclinical (ie, elevated thyroid-stimulating hormone with normal free T4), and in 1 patient, it was symptomatic. CONCLUSION: Our preliminary data suggest that hypothyroidism occurs in a small but substantial proportion of patients undergoing surgery with or without adjuvant radiotherapy for laryngeal cancer. SIGNIFICANCE: Thyroid hormone dosing should be routinely included in the assessment of patients with laryngeal cancer, because it is simple and inexpensive and may allow the early diagnosis and management of hypothyroidism.

Langerhans' cell histiocytosis: report of a case with temporal localization.

The authors report a case of Langerhans' cell histiocytosis (LCH) with temporal localization and rapidly evolving initial clinical presentation in a 12-year-old boy. This disease of currently unknown etiology is actually considered a proliferative entity of cells with phenotypic characteristics of normal Langerhans' cells. An immunoregulation defect leading to abnormal maturation and migration of Langerhans' cells might be the basis for LCH. According to the Hystiocyte Society diagnostic criteria, ATPase, S 100 and D-mannoxidase positivity in addition to typical hystopathologic findings are sufficient for diagnosis of LCH. Head and neck localization of LCH occurs in about 70% of cases; males are more frequently affected than females, age at presentation varies from a few months to 15 years. Presenting features, initial diagnostic evaluation, differential diagnosis and treatment protocol of a unifocal monosystemic temporal bone localization of LCH are presented.

[Atypical presentation of lateral cervical metastasis of occult tumor]. / Presentazione atipica di una metastasi laterocervicale da tumore occulto.

The authors describe the case of a 58 years old man, affected by severe obesity, alcohol addict, observed because of a retromandibular mass, measuring 6 cm. Clinical and instrumental findings indicated the presence of a mass apparently due to a parotid abscess; no evident lesions appeared at the examination of the ENT regions. Ultrasonography and fine needle aspiration cytology revealed the presence of a cystic cervical metastasis of a squamous cell carcinoma arising from an occult tonsillar cancer. The authors describe diagnostic procedures, differential diagnosis, treatment and peculiar aspects related to staging and follow-up.

[Tuberculous otitis]. / Otite tubercolare.

Recent works show an increase of the incidence of extrapulmonary tuberculosis with a peculiar localization to the middle ear, until now considered a rare clinical manifestation. At the Ear, Noise, Throat Clinic of the University of Ferrara a total of 5 cases of tuberculous otitis media were observed during the last 25 years. Aim of the present study is to describe their clinical manifestations, their symptomatic aspects and the way to reach a careful diagnosis and more rapid therapeutic choice.

[A case of temporal arteritis presenting with sensorineural hearing loss]. / Vasculite ad esordio otorinolaringoiatrico.

The inflammatory lesions in giant cell arteritis involve the cranial branches of the arteries originating from the arch of the aorta most prominently. The vessels are thickened tender, and nodular with absent or reduced pulsation. In literature sensorineural hearing loss and Horton's arteritis are rarely associated. A case of temporal arteritis presenting with sensorineural hearing loss is described.

Functional surgery of ceruminoma of the external and/or middle ear.

The paper describes two cases of "Ceruminoma" of the external and/or middle ear, treated by conservative surgery. The authors illustrate, besides morphological and histological features of ceruminoma, the surgical treatment modulated on the basis of an exact identification of the lesions.