Tympanic membrane perforations: the importance of etiology, size and location.

PURPOSE: The ability to predict the degree of a conductive hearing loss caused by a tympanic membrane perforation is important for every otologist, as it may require additional diagnostic tests and prevent unexpected intraoperative findings. The aim of this study was to correlate the various characteristics of a perforation (etiology, size, location, involvement of the manubrium or umbo) with the degree and frequency predominance of the consequent hearing loss. METHODS: A transversal study in a tertiary hospital center was conducted between July 2019 and December 2020. Fifty-eight patients with 65 tympanic perforations underwent a comprehensive medical and audiological evaluation, which included an otoendoscopy. An image processing software (ImageJ®) was used to measure the perforated area. The qualitative variables were etiology, affected quadrants, presence of myringosclerosis and involvement of umbo or manubrium of the malleus. The air-bone gap was measured at 250, 500, 1000, 2000 and 4000 Hz. Primary outcomes (mean air-bone gap and pure-tone average) were evaluated to find clinical factors associated with worse hearing. RESULTS: Data collected from 50 ears was included. Perforation size showed a positive statistically significant correlation with the air-bone gap (r = .508; p < .001) and pure-tone average (r = .375; p < .001). Higher air-bone gaps were found in perforations involving the posterior quadrants and the manubrium (p < .001 and p = .031, respectively). Inflammatory causes showed higher bone and air conduction pure-tone averages (p = .031 and p = .084, respectively) compared to traumatic or iatrogenic. An "inverted V" pattern of the air-bone gap, with the 2 kHz frequency being the least affected, was a consistent finding. However, it was not due to the Carhart's notch in bone conduction. CONCLUSION: The conductive hearing loss resulting from a tympanic membrane perforation is etiology, size and location-dependent, with higher losses occurring for inflammatory backgrounds, large perforations and when the posterior quadrants or the manubrium are involved. If the "inverted V" is absent, additional middle ear pathology should be investigated.

Nitinol versus non-Nitinol prostheses in otosclerosis surgery: a meta-analysis.

The aim of this study is to perform a systematic review and meta-analysis of observational studies in which hearing outcomes after primary stapes surgery have been reported. After the surgical procedure, the effectiveness of stapes surgery using nickel titanium (Nitinol) or other prostheses were systematically compared and evaluated using a meta-analytic method. A systematic search for articles before January 2017 in Embase, Medline and Cochrane Library databases was conducted. Only articles in English were included. Inclusion criteria for qualitative synthesis consisted of a population of otosclerosis patients, intervention with primary stapes surgery using the Nitinol heat-crimping prosthesis compared with other type of stapes stapedotomy prostheses, and hearing outcome. Inclusion criteria for quantitative analysis consisted of application of audiometry guidelines of the American Academy of Otolaryngology Head and Neck Surgery Committee on Hearing and Equilibrium for evaluation of conductive hearing loss. A postoperative air-bone gap (ABG) ≤ 10 dB was considered effective. A bias assessment tool was developed according to Cochrane guidelines. To evaluate the mean age of the samples we used the chi-square test. Of the 4926 papers identified through the electronic database search (3695 in Pubmed/Cochrane and 1231 in Embase), 540 studies matched the selection criteria (436 in Pubmed/Cochrane and 104 in Embase) after application of filters and elimination of duplicate articles. After analysis of the title and abstract, 459 were excluded (396 in Pubmed/Cochrane and 63 in Embase). Of the remaining 81 papers, 74 were excluded according to the study selection criteria. A total of seven eligible studies with 1385 subjects, consisting of 637 in the Nitinol group and 748 in the non-Nitinol group, were included in our study. There were statistically significant differences in the effectiveness of stapes surgery between the Nitinol and non-Nitinol prostheses; the data showed a combined odds ratio (OR) of 2.56 (95% CI 1.38-4.76, p = 0.003). There were no statistically significant differences in the mean pre-operative age between Nitinol and non-Nitinol prostheses (p = 0.931). Our results suggest that the effectiveness of Nitinol was higher than non-Nitinol prostheses, with superiority of the number of patients with ABG ≤ 10 dB.

Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.

Pendred syndrome (PS) is the second most common type of autosomal recessive syndromic hearing loss (HL). It is characterised by sensorineural HL and goiter with occasional hypothyroidism. These features are generally accompanied by malformations of the inner ear, as enlarged vestibular aqueduct (EVA). In about 50% of probands, mutations in the SLC26A4 gene are the cause of the disease. Here we report the case of a Portuguese female, aged 47, presenting with severe to profound HL and hypothyroidism. Her mother and sister, both deceased, had suffered from HL and goiter. By MRI and CT, an enlarged vestibular aqueduct and endolymphatic sac were observed. Molecular study of the patient included screening for GJB2 coding mutations and GJB6 common deletions followed by screening of all SLC26A4 exons, as well as intronic regions 8 and 14. Mutation c.918+2T>C was found for the first time in homozygosity in the intronic region 7 of the SLC26A4 gene. Whilst sequencing the control samples, a novel mutation c.821C>G was found in heterozygosity in the exon 7 of SLC26A4 gene and was predicted to be damaging. This study thus led to the finding of two novel SLC26A4 genotypes and provides new insight on the phenotypic features associated with PS.

Meningoencephalic herniation into the middle ear.

Meningoencephalic herniation into the middle ear (MHME) is a rare condition. It can result from ear surgery, infection, head trauma or can be spontaneous. Diagnosis requires a high degree of clinical suspicion. The presentation may suggest the condition, but sometimes the intraoperative discovery of an occult meningoencephalic herniation may be a frightening situation. Treatment planning must avoid intra-cranial complications. Transmastoid (TM) and middle cranial fossa (MCF) are alternative or complementary approaches, determined by several factors, including the size and the site of the bony defect and the presence or absence of middle ear infection. Three case reports are presented and a review of the literature is performed, to explain some aspects related to MHME, including aetiopathogenesis, clinical presentation, histopathology, diagnosis and treatment.

Fracture of the anterior nasal spine.

A case of sports-related fracture of the anterior nasal spine in a 18-year-old male is presented. This is actually the third case reported in the literature, and the first in which a combined fracture of the nasal septum is described. A group of signs and symptoms was proposed as the main clinical features of this situation. Fracture of the anterior nasal spine should be considered in the differential diagnosis of injuries involving the midface.

Cavernous haemangioma of the facial nerve.

Facial nerve haemangiomas are probably the most frequent benign tumours involving the facial nerve in its intratemporal portion. Usually facial nerve dysfunction is present when these tumours are of extremely small size, the average tumour being less than 10 mm. We present a case of a 15 mm diameter cavernous haemangioma of the geniculate region, with histological findings of nerve infiltration, without facial nerve symptoms. The atypical clinical presentation justifies the report and subsequent literature review.