Francesco Ottaviani

Genetic and acquired prothrombotic risk factors and sudden hearing loss.

Objectives: Idiopathic sudden sensorineural hearing loss (ISSNHL) is a frequently encountered condition, and various pathogenetic mechanisms have been hypothesized, such as viral infections, autoimmune processes, and ischemic events; however, whatever the cause, impaired cochlear perfusion appears to be the most important event. A number of inherited prothrombotic risk factors and their related genetic alterations have recently been correlated with vascular disorders.

Extracorporeal Electromagnetic Shock‐Wave Lithotripsy for Salivary Gland Stones

Sialoadenectomy for sialolithiasis is necessary when the stone cannot be removed through the salivary duct. In addition, extracorporeal shock‐wave lithotripsy has recently become available for this purpose. The safety and efficacy of this method was assessed in 52 outpatients bearing stones with an average diameter of 6.76 mm in the submandibular or parotid gland. Anesthetics, sedatives, and analgesics were not required. Twenty‐four of the 36 patients with submandibular gland calculi and all 16 with parotid sialolithiasis had complete stone disintegration or fragmentation of the calculi, with possible spontaneous clearance. Untoward effects were observed in 15 patients, namely localized skin petecchiae, transitory swelling of the gland, and self‐limiting bleeding from the duct. No persistent damage of the salivary glands or adjacent structures was noted during a mean follow‐up period of 10 months.

Cross-cultural Adaptation and Validation of the Voice Handicap Index Into Italian

OBJECTIVES To evaluate the internal consistency, reliability, and clinical validity of the Italian version of the Voice Handicap Index (VHI). STUDY DESIGN Cross-sectional survey study was carried out. METHODS One hundred and seventy-five patients with voice disorders, divided in four groups according to the etiology of the disease (neurogenic, structural, functional, and inflammatory), and 84 asymptomatic subjects were included in the study. Internal consistency was analyzed through Cronbach α coefficient. For the VHI test-retest reliability analysis, the Italian VHI was filled twice by 56 patients and 56 control subjects. The test-retest reliability was assessed through the Pearson correlation test. For the clinical validity assessment, the scores obtained in the pathological group were compared with those found in asymptomatic individuals through the Kruskal-Wallis test. Also, the correlation between VHI and the grade of voice disorder was assessed. Finally, the effect of age and gender on overall VHI and its three subscales was analyzed. RESULTS Optimal internal consistency was found (α=0.93); the test-retest reliability in both groups was high (r>0.86). Nonparametric Kruskal-Wallis analysis of variance for the overall VHI score and its three domains revealed a significant main effect for group (P=0.000). The control group scored significantly lower than the four groups of voice-disordered patients. The overall VHI score positively correlated with the grade of voice disorder (r=0.43). In the voice-disorder group, age and gender were not correlated to the overall VHI score and to their three domains. CONCLUSION The Italian VHI is highly reproducible, and exhibits excellent clinical validity.

Extracorporeal lithotripsy for salivary calculi: A long-term clinical experience

Objectives/Hypothesis: The objective was to assess in a large series of patients with a long‐term clinical follow‐up the validity of extracorporeal electromagnetic shock wave lithotripsy as a minimally invasive therapy for sialolithiasis.

Absence of otoacoustic emissions in insulin-dependent diabetic patients: Is there evidence for diabetic cochleopathy?

In order to evaluate cochlear function in Type 1 diabetes mellitus, this study analyses otoacoustic emissions (OAEs) on normal hearing subjects with diabetes and on controls. Patients with Type 1 diabetes (n=60), with a mean age of 31+/-6.23 years, mean disease duration of 17.5+/-8.9 years, and mean HbA1c of 8.1+/-1.8%, of whom 43% had signs of retinopathy and 28% had clinical signs of neuropathy, were studied. All patients underwent an OAE analysis and brainstem-evoked potentials. Fifty-eight normal volunteers were used as controls for the OAE analysis. Seventeen patients (28.3%) had no OAEs in at least one ear and 10% in both ears. The mean intensity of the response was lower in diabetic subjects [7.1+/-4.4 vs. 10.9+/-9.3 dB SPL (sound pressure level)] than in controls. The cochlear impairment was over 5 dB for the 1-kHz frequency, which is the critical level for speech understanding. These findings suggest that cochleopathy can be detected in a relatively high proportion of subjects with Type 1 diabetes in spite of a normal audiometric hearing threshold.

Conservative Transoral Removal of Hilar Submandibular Salivary Calculi

INTRODUCTION Sialolithiasis is the most common non-neoplastic salivary gland disease, accounting for 1.2% of the autoptic population; Escudier and McGurk established that the mean incidence of symptomatic sialolithiasis and sialadenitis in England is 59 per million of population per annum, corresponding to a prevalence of 0.45%. More than 80% of salivary calculi are located in the submandibular ductal system, approximately 90% of which occur in the distal third of Wharton’s duct or at the hilum; calculi located in the distal third of the duct have generally been removed by means of ductal dilatation and dissection, whereas hilar calculi have been removed by means of transcervical submandibular sialadenectomy. Sialadenectomy-related morbidity is well known: its possible early and late postoperative complications include neurologic and esthetic sequelae and functional impairment. Furthermore, unilateral submandibular gland excision decreases resting salivary flow and subjective xerostomia. Given the above, various minimally invasive and conservative techniques have recently been developed, including extracorporeal lithotripsy, interventional radiology, and operative sialoendoscopy, each of which have specific indications. After 10 years’ experience of extracorporeal electromagnetic lithotripsy, we found that up to 30% of submandibular calculi (especially those with a diameter of 7 mm and located at the hilum) were treated unsuccessfully, and that only a few of these could be solved by combining it with operative sialoendoscopy. We here describe a new, moderately invasive, and gland-preserving surgical technique for hilar submandibular salivary calculi with postoperative sialoendoscopic control.

Prothrombotic Gene Mutations in Patients with Sudden Sensorineural Hearing Loss and Cardiovascular Thrombotic Disease

Objectives: Impaired cochlear perfusion seems to be an important event in sudden sensorineural hearing loss. Prothrombotic gene mutations have been related to vascular disorders and sudden hearing loss. We assessed the prothrombotic risk in 10 patients with sudden sensorineural hearing loss who had previously experienced cardiovascular events to support its vascular pathogenesis. Methods: Ten patients underwent hematologic tests (MTHFR C677T/A1298C, prothrombin G20210A, platelet GlyIIIaA1/A2, and V Leiden G1691A genotyping; fibrinogenemia; cholesterolemia; homocysteinemia; folatemia). The results were compared with those of 100 previously investigated patients with sudden hearing loss alone and those of 200 healthy controls. DNA was isolated from peripheral blood leukocytes, and the gene mutations were investigated by polymerase chain reaction and a LightCycler DNA analyzer. Results: Two patients had 2 mutant alleles, 6 had 3, and 2 had 4. The mean homocysteine, cholesterol, and fibrinogen levels were above the upper limit of normal; the mean folate levels were slightly above the lower limit of normal. Multiple mutations were more frequent in the patient group than in the previously analyzed patients and healthy controls. Conclusions: The association between inherited and acquired prothrombotic factors in patients with sudden sensorineural hearing loss and thrombotic diseases in other sites suggests that a multifactorial mechanism may underlie microvascular cochlear impairment. Hematologic investigation, including MTHFR, prothrombin, platelet, and V Leiden genotyping, may help to detect patients at potential risk of recurrent hearing loss and multiple microvascular diseases, and could be usefully performed in otherwise idiopathic sudden sensorineural hearing loss.

Correlation between the Voice Handicap Index and voice measurements in four groups of patients with dysphonia

OBJECTIVES: To evaluate the correlation between the Voice Handicap Index (VHI) and objective voice measurements in patients with dysphonia of different origin. STUDY DESIGN: Cross-sectional survey. SETTING: Otolaryngology department in a university hospital. SUBJECTS AND METHODS: One hundred fifteen patients consulting for voice disorders were enrolled in the study: 32 presented with functional dysphonia (Group 1), 24 with unilateral vocal fold paralysis (Group 2), 30 with structural dysphonia (Group 3), and 29 with nodules (Group 4). From each patient, the maximum phonation time (MPT) and a voice spectrogram were obtained: patients with type 1 signal underwent perturbation analysis. Each patient completed the VHI. RESULTS: No significant difference across the four groups, in the VHI scores and voice measurements, was found. The correlation between the different voice measurements was good, while those between the VHI domains were very good. Considering the patients with type 1 signal (n = 80) all together, the correlations between VHI and voice laboratory measurements ranged between poor and good. Analyzing each patient group separately, good correlations were found between MPT and functional and physical VHI domain in Group 1 (r = 0.58 and 0.68), jitter and functional VHI domain in Group 2 (r = 0.61), MPT and functional VHI domain in Group 3 (r = 0.52), and physical VHI domain and jitter, shimmer, and noise-to-harmonic ratio in Group 4 (r = 0.58, 0.77, 0.76). CONCLUSION: The VHI and the voice laboratory measurements give independent information. However, the correlation between VHI and some laboratory measurements increases in populations with voice disorder of the same origin.

Arachnoid cyst of the cranial posterior fossa causing sensorineural hearing loss and tinnitus: a case report.

Abstract. Arachnoid cysts are developmental collections of cerebrospinal fluid covered by layers of arachnoidal epithelium and are usually located in the middle cranial fossa. Localizations in the posterior fossa are uncommon and generally remain asymptomatic or cause vague and non-specific symptoms. We here report the unusual case of a young patient with an arachnoid cyst of the posterior fossa that had become manifest in the form of left-sided hypoacusia and tinnitus. Audiometric evaluation, auditory brainstem responses and transient-evoked otoacoustic emissions tests revealed a progressive monolateral sensorineural retrocochlear hearing loss with cochlear involvement. Magnetic-resonance imaging showed an arachnoid cyst of the cerebellar convexity compressing the cerebellar hemisphere and thus the homolateral cerebellopontine angle. Because of the progressive worsening of the retrocochlear impairment after a 6-month wait-and-see period, the patient finally underwent endoscopic cyst decompression. This was judged to be successful as it stopped the progression of hearing loss and the impairment of the auditory brainstem responses and made the tinnitus more tolerable.

Association between methylenetetrahydrofolate reductase polymorphisms, alcohol intake and oropharyngolaryngeal carcinoma in northern Italy

Folate metabolism dysregulation may lead to abnormal cell proliferation and predispose to carcinogenesis by inducing DNA hypomethylation. Folate pathways may be modified by polymorphisms in relevant genes, such as that for methylenetetrahydrofolate reductase (MTHFR), or by alcohol consumption. We investigated the relationship between MTHFR mutations at nucleotides C677T and A1298C, which cause reduced MTHFR enzyme activity, and susceptibility to oropharyngolaryngeal carcinoma in 65 patients and 100 controls. We isolated DNA from peripheral blood leukocytes. In oropharyngolaryngeal carcinoma cases the C677T heterozygous genotype was more frequent (p = 0.018), the allele frequency of MTHFR 677T was greater (p = 0.019) and the genotype 677TT/1298AA was more frequent (p = 0.001). A higher risk of carcinoma was found in the case of moderate drinkers with mutant MTHFR homozygosis or double heterozygosis (OR = 21.2 and OR = 9.1, respectively; p trend = 0.002), and the association was maintained for the different cancer sites (glottic, supraglottic, oropharyngeal). Our findings support the hypothesis that the interaction of alcohol intake and MTHFR polymorphisms might contribute to susceptibility to carcinogenesis of the oropharyngolaryngeal tract.