Fabrizio Salvinelli

Obstructive Sleep Apnea Syndrome: From Phenotype to Genetic Basis

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.

Treatment of benign positional vertigo in the elderly: a randomized trial.

Objectives/Hypothesis: The objective of the study was to evaluate the efficacy of three therapeutic strategies (Semont maneuver, flunarizine, and no treatment) in patients with benign paroxysmal positional vertigo.

Reflux pattern and role of impedance-pH variables in predicting PPI response in patients with suspected GERD-related chronic cough.

Gastro‐oesophageal reflux disease (GERD) may contribute to the onset of chronic cough (CC); however, the multichannel intraluminal impedance‐pH (MII‐pH) monitoring is often within the normal range and the response to proton pump inhibitors (PPIs) unsatisfactory. The measure of impedance baseline (IB) increases the sensitivity of MII‐pH in patients with typical symptoms.

Is obstructive sleep apnea syndrome a risk factor for auditory pathway

PurposeThe transduction mechanism of the inner ear and the transmission of nerve impulses along the auditory way are highly dependent upon the cochlear oxygen supply. Several studies have considered the possibility that obstructive sleep apnea–hypopneas during sleep can interfere with these processes, and the results are not uniform. The aim of the study is to evaluate the auditory function in adult patients affected by severe obstructive sleep apnea syndrome (OSAS).MethodsThirty-nine patients in this study were included and divided in OSAS group, with severe OSAS (Apnea–Hypopnea Index, AHI > 30), and control group with snoring without OSAS (AHI < 5). Each patient was subjected to pure-tone audiogram (PTA), otoacoustic emission (OAE), and brainstem auditory evoked potentials.ResultsThe OSAS group showed a PTA significantly higher than the control group (14.23 ± 6.25 vs. 7.45 ± 2.54; p < 0.01), a lower TEOAE reproducibility (0.57 ± 0.10 vs. 0.92 ± 0.10; p < 0.01) such as a lower signal-to-noise 0atio (p < 0,01) and a lower DPOAE amplitude (5.96 ± 6.34; 13.18 ± 2.97; p < 0.01). The mean latencies of waves I, III, and V were prolonged in OSAS group as compared to the healthy people, especially for wave V (p < 0.05). The interpeak latency (IPL) of I–V was significantly higher (p < 0.01) in the OSAS patients (5.84 ± 0.15) as compared to the control group (5.4 ± 0.12), such as IPLs I–III and III–V (p < 0.05).ConclusionsOur data showed an auditory dysfunction in patients affected by severe OSAS, suggesting that severe OSAS could represent a risk factor for auditory pathway.

Nasal surgery and eustachian tube function: effects on middle ear ventilation

Objectives:  To investigate the effect of nasal obstruction surgery on eustachian tube function and middle ear ventilation.

Nasal Polyposis: From Pathogenesis to Treatment, An Update

Nasal polyps (NP) are common benign degeneration of nasal sinus mucosa with a prevalence around 4% in the adult population. The causes are still uncertain but there is a strong association with allergy, infection, asthma and aspirin sensitivity. Histologically, the presence of a large quantity of extracellular fluid, mast cell degranulation and eosinophilia has been demonstrated. Typically the patients show nasal obstruction, anosmia and rhinorrhoea. Nasal endoscopic examination and CT imaging allow evaluation of the disease extension. A combined medical and surgical treatment is recommended for symptoms control in preventing symptomatic NP recurrence. We will review the current knowledge in the pathogenesis and treatment of this complex disease entity.

Facial Nerve Outcome after Vestibular Schwannoma Surgery: Our Experience

In this study we evaluate the postoperative facial nerve function after vestibular schwannoma (VS) surgery and analyze the factors that cause it. We included 97 consecutive patients undergoing surgical excision of sporadic unilateral VS. Patient and tumor characteristics, surgical approaches, facial nerve function, extent of tumor removal, perioperative complications are all analyzed through standardized systems. Four different surgical approaches are used: translabyrinthine, retrolabyrinthine, retrosigmoid, and middle cranial fossa. Anatomic preservation of the facial nerve is achieved in 97% of patients. The incidence of postoperative facial palsy is found to be statistically correlated to tumor size, but not to the surgical approach used and to extent of tumor penetration in the internal auditory canal. A significant improvement of the short-term facial nerve outcome is detected in patients undergone simultaneous intraoperative electromyography (EMG) and pneumatic facial nerve monitoring. Complete tumor excision is achieved in 94% of cases. Complication rates are excellent and no deaths are reported. Short- and long-term facial nerve outcome is good and comparable with those of other series reported in literature. In VS surgery both EMG and pneumatic facial nerve monitors should be simultaneously used. Further investigations are desirable to improve the facial outcome respecting the oncological radicality.

The potential role of hyaluronan in minimizing symptoms and preventing exacerbations of chronic rhinosinusitis.

Background This study was designed to prospectively evaluate the role of nebulized hyaluronic acid (HA) given for 10 days/mo over 3 months as adjunct treatment to minimize symptoms and preventing exacerbation of chronic rhinosinusitis (CRS). Methods Thirty-nine eligible patients were randomized to receive nebulized 9-mg sodium hyaluronate nasal washes plus saline solution (21 patients) or 5 mL of saline alone (18 patients), according to an open-label, parallel-group design, with blind observer assessment. A questionnaire about main CRS discomfort and nasal endoscopy for mucous discharge and/or mucosal edema of nasal cavities was used to assess primary outcomes of treatments. Secondary outcome measures included side effects and satisfaction. Results HA significantly improved quality of life in CRS patients according to the CRS questionnaire (16± 3.72 versus 11.52 ± 4.28; p < 0.001), contrary to saline group scores (18.92 ± 3.09 versus 18.21 ± 3.21; p = 0.55). The HA group showed significantly reduced osteomeatal edema (2.42 versus 1.52; p < 0.001) and secretions (0.95 versus 0.42; p < 0.001), whereas there was no statistically significant difference in the saline group he compliance to the treatment was similar in both groups and no side effects were recorded. Conclusion The results of this study suggested that intermittent treatment with topical 9-mg sodium hyaluronate plays a role in minimizing symptoms and could prevent exacerbations of CRS.

Radioguided surgical strategy in mucosal melanoma of the nasal cavity.

Sinonasal mucosal melanoma (MM), although very rare (<1% of the all MM), is second only to squamous cell carcinoma among cancers of the nasal region and still represents a challenging problem in head and neck cancer. A 60-year-old woman had nasal MM stage I, which was treated with concomitant probe-guided tumor excision and an elective neck dissection after sentinel lymph node biopsy. The radioactivity status of the tumor and lymph nodes were compared with the histopathologic specimen. Surgical margins, sentinel lymph node, and lymphadenectomy were free of tumor. The patient was seen in frequent and regular follow-up and was free of disease without any other treatment (radiotherapy, immunotherapy, or chemotherapy). Radioguided surgery is an easy and reproducible surgical technique that could increase the likelihood of adequate excision and minimize the development of nodal disease by performing a “guided” neck dissection after the sentinel lymph node biopsy. A multidisciplinary approach and further studies with a longer follow-up are needed to substantiate the accuracy and safety of this strategy in the treatment of an aggressive neoplasm like MM of the head and neck, which still has a very poor prognosis.

Staging rheumatoid arthritis: What about otoacoustic emissions?

Sir, Hearing loss is common in rheumatoid arthritis (RA) patients, although the possible clinical implications of evaluating the severity of RA have never been addressed. Increased stiffness of the middle ear ossicular chain in RA patients has been reported in the medical literature and confirmed by recent studies (1 /4), while inner ear impairment (5, 6) has been poorly investigated. We evaluated 20 patients (Group 1; 18 females, 2 males; mean age 44.1 years; range 27 /53 years) with a previous diagnosis of RA (7). A complete ENT examination and an audiological assessment were carried out. Transient-evoked otoacoustic emissions (TEOAEs) (8) were recorded using an ILO88 OAE Analyser (Otodynamics), and the results were compared with those obtained in 20 healthy age-matched controls (Group 2). The average reproducibility of TEOAEs was 38.27%9/19.08% in Group 1 and 63.47%9/16.84% in Group 2 (p B/0.001); the average amplitude was 4.479/3.07 dB SPL in Group 1 and 8.729/2.47 dB SPL in Group 2 (p B/0.001). In Group 1, a significant inverse correlation (r / /0.316; p /0.046) between echo amplitude and the duration of RA was noted (Fig. 1). No correlation was found between RA activity, evaluated by means of the erythrocyte sedimentation rate, C-reactive protein level and Disease Activity Index (9), and echo parameters. Cochlear impairment in RA is confirmed by our findings. Furthermore, the significant inverse correlation between the duration of disease and the TEOAE amplitude shows that inner ear injury depends on chronic damage to the cochlea caused by RA, rather than on an acute inflammatory reactivation of the disease. As the inner ear microcirculation is involved in RA-related systemic vascular impairment, cochlear function evaluation using TEOAEs may represent an easy and non-invasive new approach for the staging of RA, in association with traditional rheumatological parameters. Further studies are needed to evaluate the possible correlations between OAEs and other factors potentially involved in RA-related cochlear impairment, such as antibodies directed against inner ear antigenic epitopes and/or involvement of anticardiolipin IgG and IgM antibodies in inner ear immunocomplex-mediated vasculitis (5, 6).