Claudia Aimoni

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.

18-FDG PET in the diagnosis of laterocervical metastases from occult carcinoma

The management of patients with cervical node metastasis (CNM) from carcinoma of unknown primary (CUP) often includes several radiographic studies and invasive procedures that are only successful in detecting an occult primary tumour in less than 25% of the cases. In this prospective study we have assessed the role of total body positron emission tomography (PET) using an 18-F-fluorodesoxyglucose (FDG) in the detection of primary tumours in patients with metastases from CUP. Thirteen patients with lymph node metastases from cytologically verified CUP have undergone total body FDG PET which confirmed the possibility of lymph nodal lesion; all patients have also undergone conventional imaging with CT and/or MRI. The data obtained with the FDG-PET method have subsequently been confirmed both by the histopathological examination and by the clinical course of the disease. The current work aims at assessing and defining the effectiveness of the FDG-PET method during the diagnostic work-up of laterocervical metastasis from CUP conventionally examined with CT and/or MRI; based on our results, we recommend a flow-chart for the clinical-diagnostic management of the patient affected by laterocervical metastasis in the absence of known primary.

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.

Cochlear implant in Cogan syndrome.

Abstract Conclusions: Despite the need for special fitting strategies, improvements in speech discrimination tests support the use of cochlear implantation (CI) for patients with Cogan syndrome. Adequate preimplant counselling is mandatory, to prevent high expectations and to stress the necessity for bilateral implantation. Objective: In 60% of patients with Cogan syndrome, CI remains the only treatment option. Literature data agree that once the electrode array is properly inserted, functional outcomes are very good. Nevertheless, results may deteriorate due to progressive cochlear ossification. A few studies have documented the outcomes of CI in these patients, but none have reported the long-term results. Methods: This was a retrospective study describing the outcomes of 3 implanted patients with Cogan syndrome – among 300 adult patients who received a cochlear implant, 3 had become deaf due to Cogan syndrome. Results: In one patient the cochlear ossification advanced and the speech perception abilities worsened from the highest category to identification of words in closed set. The second patient complained of an abrupt reduction of loudness at 18 months post-implant, which required an increased electrical stimulation. The third patient reached the identification category probably due to auditory dyssynchrony, as an atypical consequence of the syndrome.

Cervical necrotizing fasciitis

Abstract Necrotizing fasciitis is a severe soft tissue infection that results in necrosis of the fasciae and subcutaneous tissues; the infection can quickly prove fatal. Although involvement of the head and neck is rare, causes are usually odontogenic or pharyngeal but can also be insect bites, local trauma, burns or surgery. We present a clinical case of a 31-year-old Italian woman with cervical necrotizing fasciitis having an uncommon presentation. While under treatment, the patient’s husband was admitted for necrotizing fasciitis of the medial fasciae of his left leg subsequent to an insect sting. The causes, diagnosis and treatment of necrotizing fasciitis are reviewed.

Hearing Loss Evaluation of Sjogren's Syndrome Using Distortion Product Otoacoustic Emissions

Sjögrens syndrome (SS) is a cell-mediated immune disorder primarily affecting the exocrine glands and hearing loss may be the first otological manifestation of this autoimmune disease. In order to assess the degree of sensorineural hearing loss in SS, 22 female patients were examined by means of standard audiometric tests (pure-tone audiometry, acoustic reflexes and impedance testing) and using distortion product otoacoustic emissions (DPOAEs). The results indicated that only 36.3% of the patients had mild sensorineural hearing loss. Hearing level and distortion product threshold estimates were found to be significantly correlated. No relationship was found between the duration of the disease and the DPOAE and hearing threshold variables. The data suggest that SS may not directly cause sensorineural hearing loss.

Facial nerve paralysis in children.

Facial nerve palsy is a condition with several implications, particularly when occurring in childhood. It represents a serious clinical problem as it causes significant concerns in doctors because of its etiology, its treatment options and its outcome, as well as in little patients and their parents, because of functional and aesthetic outcomes. There are several described causes of facial nerve paralysis in children, as it can be congenital (due to delivery traumas and genetic or malformative diseases) or acquired (due to infective, inflammatory, neoplastic, traumatic or iatrogenic causes). Nonetheless, in approximately 40%-75% of the cases, the cause of unilateral facial paralysis still remains idiopathic. A careful diagnostic workout and differential diagnosis are particularly recommended in case of pediatric facial nerve palsy, in order to establish the most appropriate treatment, as the therapeutic approach differs in relation to the etiology.

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.

Pigmented Villonodular Synovitis of the Temporomandibular Joint

Pigmented villonodular synovitis is a benign lesion of unclear etiology involving the synovial membranes of joints, bursae, and tendon sheaths. Its occurrence in the temporomandibular joint is particularly rare. Despite its benign nature, pigmented villonodular synovitis is described as being locally destructive to the surrounding structures. Imaging evaluation and histopathologic examination are crucial for correct diagnosis.The purposes of the surgical treatment are for relief of pain and swelling, improvement of joint function, and prevention of further joint damage.The authors report a case involving an adult male patient; complete excision of the temporomandibular joint lesion through an open arthroplasty approach was performed. To date, after 18 months of follow-up, the patient is disease free with an adequate preservation of function.

Decreased production of human leukocyte antigen G molecules in sinonasal polyposis.

Background Sinonasal polyposis (SNP) is a chronic inflammatory pathology of nasal and paranasal cavities. Human leukocyte antigen (HLA) G molecules are nonclassic class I antigens with anti-inflammatory and tolerogenic properties. As most theories consider polyps to be the manifestation of chronic inflammation, there could be a possible implication of HLA-G molecules in SNP. The purpose of this study was to investigate the possible correlation between SNP and the production of soluble HLA-G (sHLA-G) by peripheral blood mononuclear cells (PBMCs). Methods The study involved 22 SNP patients (11 with no evidence of disease [NED] after surgery and 11 with relapse [RE]) and 20 healthy subjects. The presence of sHLA-G in PBMC lipopolysaccharide (LPS)-stimulated culture supernatants was analyzed. The levels of interleukin (IL) 10, one of the main up-regulators of sHLA-G production, were determined. Exogenous IL-10 was added to the SNP PBMC cultures to reconstitute the impairment in sHLA-G production. Results Increased IL-10 levels in LPS-activated PBMC culture supernatants were found in NED patients in comparison with healthy subjects (p = 0.0184). No sHLA-G production was observed in either of the patient subgroup supernatants (p < 0.0001). The addition of exogenous IL-10 showed the reconstitution of sHLA-G production in NED and in a lower amount in RE patients. Conclusion The results show a defect in sHLA-G production in SNP patients mainly related to the IL-10/HLA-G pathway. Given the anti-inflammatory functions of HLA-G molecules, this impairment could increase the susceptibility to the disease. The different sHLA-G production after exogenous IL-10 addition between NED and RE SNP could represent a marker of disease severity.