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Obstructive sleep apnea syndrome (OSAS) is a complex chronic clinical syndrome, characterized by snoring, periodic apnea, hypoxemia during sleep, and daytime hypersomnolence. It affects 4-5% of the general population. Racial studies and chromosomal mapping, familial studies and twin studies have provided evidence for the possible link between the OSAS and genetic factors and also most of the risk factors involved in the pathogenesis of OSAS are largely genetically determined. A percentage of 35-40% of its variance can be attributed to genetic factors. It is likely that genetic factors associated with craniofacial structure, body fat distribution and neural control of the upper airway muscles interact to produce the OSAS phenotype. Although the role of specific genes that influence the development of OSAS has not yet been identified, current researches, especially in animal model, suggest that several genetic systems may be important. In this chapter, we will first define the OSAS phenotype, the pathogenesis and the risk factors involved in the OSAS that may be inherited, then, we will review the current progress in the genetics of OSAS and suggest a few future perspectives in the development of therapeutic agents for this complex disease entity.

The present study investigates the efficacy of Semont's repositioning liberatory maneuver by comparing it with no-treatment in a population of patients with benign paroxysmal positional vertigo (BPPV).In this randomised, controlled, 6-month efficacy trial, 40 patients affected by BPPV were treated with Semont's maneuver. Outcomes were measured subjectively by patients about their Activities of Daily Living (ADL) and quality of life, based on the "Vestibular Disorders Activities of Daily Living Scale". Results were compared to those obtained in 40 non-treated BPPV patients.During the first month of the study, 92.5% of patients of Semont's group resolved their symptoms. Cure rates with Semont's maneuver were significantly higher than those obtained with no-therapy (92.5% versus 37.5%). Within a six month follow-up, relapse rates were lower among patients treated with Semont's maneuver than among the no-treated ones (5% versus 60%). All patients with a resolution of symptoms and a negative Dix-Hallpike's test presented a great improvement in daily activities and quality of life.BPPV is easy to solve with a successful repositioning maneuver. Since BPPV is a very common cause of vertigo and can represent a medical emergency, we believe that it is of interest for every general practitioner to be able to promptly recognize this frequent balance disorder and to be able to treat a patient affected by BPPV with a safe repositioning maneuver.

The regimen with paclitaxel and platinum compound (carboplatin or cisplatin) is the standard chemotherapy for patients with advanced ovarian cancer. Ototoxity for carboplatin and paclitaxel alone or combined is rarely observed. We report the case of a 35-year old female with advanced ovarian cancer who developed sudden bilateral sensorineural hearing loss related to paclitaxel and carboplatin based chemotherapy. This uncommon adverse effect of carboplatin and paclitaxel alone or combined is discussed and the literature reviewed. Hearing monitoring should be mandatory to evaluate the real incidence of clinical and sub-clinical hearing modification induced by carboplatin and paclitaxel based chemotherapy.

Case Report: Primary low-grade fibromyxoid sarcoma (LGFMS) is an extremely rare tumour of the salivary glands and arises from undifferentiated pluripotential mesenchymal cells. We report a case of a huge (17×11×10 cm) primary LGFMS of the parotid gland of a 57-year-old woman. Clinically, a 12×8 cm firm, non-tender, left parotid mass was observed, facial nerve function was not impaired and no enlarged lymph nodules were palpated on the neck. A contrast axial CT scan showed intense enhancement of the enlarged left parotid gland. The fine needle aspiration biopsy (FNAB) was compatible with sarcomatous tissue. The tumour was removed en bloc and the facial nerve was sacrificed; surgical margins were free from disease. Microscopically, the tumour consisted of fibrous and myxoid tissue with varying grades of cellularity and gradual transitions between the two. Post-operative radiotherapy was carried out on the left neck region and parotid turnout bed. Thirty-six months after surgery the patient presents good general conditions without any evidence of local or regional disease. Conclusion: The largest primary LGFMS of the parotid gland described in the literature is reported and a review of the literature on such neoplasms is also provided.

We present an additional very rare case of a congenital tympanic membrane cholesteatoma (CTMC) in the adult.Case report and literature review of CTMC.A 54-year old man was referred to us by his primary care physician who noted a white mass on the right tympanic membrane without prior history of otorrhea, tympanic perforations or previous otologic procedures. The pearl was about 5 mm diameter, centered on the umbo of a normal tympanic membrane (TM). The audiogram and the tympanogram was absolutely normal. CT confirmed a soft round shape tissue mass, located in the centre of the TM near umbo. The mass protruded both in the auditory canal and in the middle ear space, touching the malleus extremity, without any relationship with medial wall of the cavum tympani. A surgical excision was performed using a "minimal" retroauricolar transcanalar approach: the CTMC was located into the thickness of the TM, between epidermic and mucous layers. The ossicular chain was preserved intact. A partial myringoplasty (underlay technique) using a temporalis fascia graft was necessary. Histopathology confirmed a cystic cholesteatoma. After two months and one year follow-up, otoendoscopy showed a well-healed TM with a preserved normal audiogram and tympanogram.This exceptional (probably the first reported) case showed the possible localization of the CC in the TM, also in the adult. Criteria for classification of a TM cholesteatoma as congenital and possible pathogenetic mechanisms are discussed.

We present a case of a patient who experienced right facial palsy after being operated for otosclerosis. Seventeen years before our patient had yet undergone the same operation on the contralateral ear and had presented a facial palsy. We also report another case of facial palsy and middle ear damage after an operation for otosclerosis. Facial palsy is a rare complication of middle ear surgery. It is probably caused by a viral relapse and it recedes after few weeks if a proper therapy is administrated to the patient. Thus we deem it is useless to perform immediately advanced, invasive and expensive tests. On the contrary we believe that it is useful, in those cases in which an otosclerotic patient has a history of herpes simplex virus infection, to administer a preventive antiviral therapy before the operation.

The early recognition of incipient Meniere's disease (MD) in the asymptomatic ear of a patient with known unilateral disease has profound implications for patient management and follow-up, but the criteria for a right and precocious diagnosis is still controversial.We evaluated forty-nine patients with MD, selected according to Committee on Hearing and Equilibrium guidelines. All patients underwent laminar tonal audiometry, stapedial reflex study, Glycerol dehydration test, Auditory Brainstem Response (ABR) vestibular examination. MRI was performed in 14 patients.A raised hearing threshold in the contralateral ear was found in 27 patients, but only 7 (14.3%) fulfilled the requirements to be considered affected by bilateral MD. The average delay of occurrence in the contralateral ear was 7 years (from 5 to 12 years). The glycerol test was positive only in 4 patients with unilateral MD and moderate hearing loss. It was not positive in any case of bilateral MD. The membranous endolymphatic duct and sac is not well visualised with MRI on the affected side in the majority of patients.A MRI study must be included in the diagnostic protocol for MD and with improvements in this imaging modality will possibly allow detection of variations in the size of inner ear structures. Glycerol dehydration test was useful only in selected cases. A full assessment of incipient disease in the asymptomatic ear in unilateral Meniere's disease should be undertaken. A conservative approach in surgical treatment of unilateral MD is recommended because of the possibility of evolution of a bilateral form, which can occur even 10 years after the onset of the disease.

Benign paroxysmal positional vertigo (BPPV) has been recognized as the most common vestibular disorder; it is a term coined in 1952 by Dix and Hallpike, and it is most commonly used to describe a disease with a characteristic clinical presentation believed to be caused by free-floating particles leaving the macula and entering one of the semicircular canals, usually the posterior one, more rarely the horizontal or superior ones. A lot of studies showed as the prevalence is higher in females than in males with a ratio of 2:1; furthermore, prevalence increases with the age: the mean age at onset is 54 years, with a range of 11 to 84 years. The most important clinical manifestations of BPPV are: vertigo, lightheadedness, dysequilibrium and sometimes nausea, vomiting, pallor and sweating. The diagnosis of BPPV is very simple through the Dix-Hallpike test or the diagnostic Semont's maneuver; the increasing information about the BPPV's pathogenesis has led most authors to consider the rehabilitative therapy, and in particular the so-called Semont's "liberatory" maneuver, as the first choice treatment of BPPV, in relation to its quickness and efficacy. In this treatment the debris are moved from the posterior semicircular canal to another location within the vestibular labyrinth. In our review we consider the possible pathogenesis of this disease and the best therapies, like repositioning maneuvers, in a patient affected by BPPV.

Simple snoring represents a social problem, not only because it could affect the patient's married life, but it often goes along with sleep-disordered breathing. Chronic nasal obstruction has many sequel including snoring and the inferior turbinate hypertrophy (ITH) is its most common cause. The aim of the study is to evaluate the efficacy of video-assisted endoscopic radiofrequency volumetric tissue reduction (RFVTR) to reduce snoring in patients affected by chronic nasal obstruction due to ITH.This prospective study was conducted over 48 habitual snoring with persistent nasal obstruction due to bilateral ITH refractory to medical management received one time RFVTR of both it. Nasal symptoms were assessed both subjectively, by Visual Analog Scale (VAS) and NOSE Scale, and objectively by videorhinohygrometer. Snoring was measured by Snoring severity rated by the bed partner, in a longitudinal fashion, using VAS. All patients were evaluated pre-operatively, and after 45th day (range 35-50 days) post-operatively.Thirty-two subjects completed study. All patients had significant symptomatic improvement in nasal breathing (5.53 ± 2.88 vs 1.87 ± 1.75; p0.05), confirmed by videorhinohygrometer values (p0.05). We had a significantly improvement of snoring in all patients (5.62 ± 2.80 vs 1.86 ± 1.43, p0.001) with a mean snoring Visual Analog Scale improvement of 77.4%.Based on this study and literature review, it seems that RFVTR represents a safe, minimal invasive, easy performed, and time and cost effective surgery, which may decrease symptoms of snoring in patients with ITH, at least, in short-term follow-up.

Perilymphatic fistula (PLF) is an abnormal condition in which a communication is present between the perilymphatic space of the inner ear and the middle ear or mastoid, secondary to a dehiscence in the otic capsule, oval or round window. LF may induce hearing loss, tinnitus, aural fullness, vertigo, disequilibrium, or a combination of these symptoms; the vagueness of symptoms caused by PLF and the lack of specificity of clinical signs and symptoms make the diagnosis elusive. We report a video of a positive PLF test induced by the application of pressure on the tragus, just anterior to the left external auditory canal in a patient with cholesteatoma and PLF of lateral semicircular canal confirmed by CT scan imaging. https://www.youtube.com/watch?v=x5MhSILF9O4.

The parapharyngeal space (PPS) is a rare site for neoplasms in the head and neck and lipoma represents 0.5% of all head and neck tumors.We describe a case of a giant parapharyngeal lipoma in obese adult patient causing anatomic pharyngeal obstruction with severe obstructive sleep apnea (OSA) syndrome. The patient was successfully operated with transcervical approach.In patients presenting with symptoms suggestive of OSA, it is essential to rule out any physical cause and perform a comprehensive ear, nose and throat examination including fibro-endoscopic upper airway examination before referral for sleep study and management. The ideal management for OSA involves treating the underlying cause. If no definitive cause is identified, management should begin with conservative measures such as lifestyle changes and a weight loss program; if these are unsuccessful, continuous positive airway pressure (CPAP), oral appliances or upper airway surgery could be considered. Better diagnostic methods should be developed to identify the main OSA causes and improve therapeutic outcomes.

During extracorporeal circulation (ECC) there is a great hemodynamic stress with possible impact on the microcirculation, including cochlear one. Previous studies have evaluated the effect of ECC on inner ear with contrasting results. The aim of this study is to evaluate possible modifications of the outer hair cells (OHC) function after open heart surgery (OHS) under ECC with transient evoked (TEOAEs) and distortion product otoacoustic emissions (DPOAEs).Ten patients (5 F and 5 M), undergoing OHS with ECC, were subjected to an audiological assessment pre- and postoperatively. We compared the pre-operative and post-operative mean auditory thresholds, mean TEOAEs reproducibility and amplitude, and mean DPOAEs amplitude. Student's t-test was used to compare different values.No significant differences were found between pre- and post-operative audiological assessment both in hearing level and in otoacoustic emissions.OHC function seems to be not affected by hemodynamic stress induced by ECC. Further studies on a larger scale will be necessary to confirm our preliminary data.

The aim of this study was the evaluation of the usefulness of a 7-items questionnaire, Rome Questionnaire (RQ), in identifying adult patients at risk of obstructive sleep apnoea syndrome (OSAS). 136 adults (76 M, 60 F) with snoring were enrolled. Each patient underwent to an overnight polysomnography (PSG) study and the patient's bed partner answered the "RQ". RQ survey items mainly addressed the presence and frequency of snoring behaviour, breathing pauses, sore throat, oral breathing and wake time sleepiness. Of the 136 initial patients, 111 (63 M, 48 F; mean age 54.6 +/- 10.84) with a complete PSG examination were included in the study. They were divided according to apnea-hypopnea index (AHI) into two groups: group A with a primary snoring or mild OSAS (AHIor = 15) and group B with moderate-severe OSAS (AHI15). The RQ final score was 25.27 +/- 16.1 for group A and 42.29 +/- 15.2 for group B, with a statistically significant (p0.0001) difference. Analyzing the RQ score of group B (moderate-severe OSAS) we surprisingly noticed that most of patients (66%) showed an high RQ score (40). No patients with moderate-severe OSAS showed a RQ score20 and for every point scored in the questionnaire there is an extra 1.07 (0.7%) risk of belonging to group B. Group B showed a mean body mass index (BMI) of 31.53 (+/- 4.95), significantly (p0.001) higher than BMI of group A (26,86 +/- 3.28) and BMI results a good predictive factor (p = 0.013) of mild-severe OSAS. In conclusion, the "RQ", together with BMI, seems to be an useful tool to make a selection of the patients at higher risk of moderate-severe OSAS, who need a prompt PSG evaluation. Our findings will require further validation in larger sample of subjects.

Evaluation of hearing results after implantation of a fluoroplastic-platinum piston (FP) and of a titanium piston (T) with a shaft diameter of respectively 0.6 mm and 0.4 mm, in cases of otosclerosis requiring stapedotomy.Pre-operative and post-operative hearing results obtained after primary stapedotomy by implantation of 30 FP and 30 T performed by the same expert author (C.Z.) were reviewed. In each patient we evaluated pre- and post-operative auditory thresholds, as recommended.All patients of both groups showed a significant air-bone gap (ABG) improvement for all frequencies after surgery ( P0. 001). Post-operative ABG comparison between the two groups showed a better ABG for lower frequencies in the FP group and for higher frequencies in the T group, but the difference was not significant. No post-operative complications, including sensorineural hearing loss, were found. Bone conduction improvement was better in the FP group than in the T one and this difference was statistically significant at 1000 and 2000 Hz. There was no statistically significant difference in the post-operative outcomes between the two prosthesis. Better results of FP for lower frequencies suggest that an increase in diameter of the prosthesis results in a greater improvement in the hearing threshold at low frequencies, while a decrease of diameter results in a greater improvement in the hearing threshold at high frequencies, as indicated by previous international studies.Our data shows that titanium piston is a as good as fluoroplastic piston in stapes surgery for otosclerosis.

We report a case of an adult woman with an Eagle's Syndrome (ES) treated with medical therapy. ES is characterized by an aspecific orofacial pain secondary to calcification of the stylohyoid ligament or elongated styoid process. In about 4% of general population an elongated styloid process occurs, while only about 4% of these patients are symptomatic. We report a case of a 49-year-old lady with a 1-year history of oro-pharyngeal foreign body sensation localized at the left tonsillar fossa, associated with a dull intermittent pain. A bony projection was palpable with bimanual transoral exploration. A lateral radiograph and a computed tomography scan of head and neck showed an elongated styloid process of 57 mm on the left side and 48 mm on the right one. The patient refused surgical treatment as first choice. She underwent a non-steroidal anti-inflammatory local treatment, with progressive disappearance of symptoms. After 6 months she had no recurrence of symptoms. In conclusion, a precise differential diagnosis is crucial in order to choose the most adequate treatment, which can be either surgical or non surgical. Medical treatment represents the first choice, followed by surgical styloid process resection, in the case of persistence or ingravescence of the complaint.

Gastroesophageal reflux disease (GERD) represents one of the most common gastrointestinal disorders, but is still a challenge to cure. Proton pump inhibitors (PPIs) are currently the GERD's standard treatment, although not successful in all patients; some concerns have been raised regarding their long term consumption. Recently, some studies showed the benefits of inspiratory muscle training in increasing the lower esophageal sphincter pressure in patients affected by GERD, thereby reducing their symptoms.Relevant published studies were searched in Pubmed, Google Scholar, Ovid or Medical Subject Headings using the following keywords: "GERD" and physiotherapy", "GERD" and "exercise", "GERD" and "breathing", "GERD and "training".At the end of our selection process, four publications have been included for systematic review. All of them were prospective controlled studies, mainly based on the training of the diaphragm muscle. GERD symptoms, pH-manometry values and PPIs usage were assessed.Among the non-surgical, non-pharmacological treatment modalities, the breathing training on diaphragm could play an important role in selected patients to manage the symptoms of GERD.

A 35-year-old woman presented with dyspnea, recurrent laryngitis and gastroesophageal reflux disease. Laryngoscopic examination revealed a yellow lesion on the anterior site of the left true vocal cord. No abnormal lesions were found in other portions of the larynx. The lesion was biopsied and a histological examination showed numerous foamy cells diffusely presented in the stroma of the specimen. Overlying squamous epithelium did not show cellular atypia. On the basis of histological appearance, the possible differential diagnosis included xanthomatous lesion, granular cell tumor or epithelial neoplasia. CD68, S-100 protein and cytokeratin immunoreactivities were investigated. Immuno-histochemically, foamy cells were positive for CD68, indicating a histiocytic origin.

Hearing loss is a common problem in modern society due to the combined effects of noise, aging, disease, and heredity. According to 2005 estimates by the World Health Organization (WHO), 278 million people worldwide have moderate to profound hearing loss in both ears. Incidence increases with age. Approximately 31.4% of people over age 65 have hearing loss and 40% to 50% of people 75 and older have a hearing loss. Only 1 out of 5 people who could benefit from a hearing aids actually wears one.To review literature for articles that focus on hearing aids.Hearing aids have continuously evolved over the past 50 years, in term of styles and technology. Technological advances in hearing aids and HATS (Hearing Assistive Technologies, and Rehabilitation Services) have expanded the range of options available to improve the success of a device use. Today's hearing aids differ significantly from their analog predecessors because the application of digital signal processing has permitted many adaptive and/or automatic features. Included in the benefits of digital hearing aids are improved sound quality, multiple listening programs for different listening environments, advanced noise reduction strategies, acoustic feedback reduction, compatibility with remote control options, and flexibility in manipulation of the frequency, compression, and gain.The hearing aids continue to be developed to enhance the characteristics in terms of rehabilitation and acceptability.