A Case for Genetic Testing in Isolated Tympanic Paragangliomas.

OBJECTIVE: The aim of this study is to describe two clinical cases, which we believe highlight the need to consider routine genetic testing of all patients with new diagnosis of a tympanic paraganglioma (PGL). PATIENTS: Two patients seen in the ENT clinic at a tertiary center with a diagnosis of isolated tympanic PGL, without family history. INTERVENTION: Since 2016, all patients with newly diagnosed isolated tympanic PGL (glomus tympanicum) are offered review by the clinical genetic team and genetic testing of a panel of paraganglioma/phaeochromocytoma predisposition genes. Previously only those with multiple PGL or a family history were tested. MAIN OUTCOME MEASURES: We describe the results of genetic testing, the clinical course and discuss the ongoing implications for management. RESULTS: Both cases were identified to have a pathogenic variant in the SDHB gene after initial surgery. The clinical course for both cases was complicated by disease recurrence, as well as metastatic and secretory disease in one case. Knowledge of genetic status has influenced ongoing management, with annual MRI surveillance for other SDH-related tumors. CONCLUSION: These two cases reinforce the importance of offering genetic testing for all cases of isolated tympanic PGL. The discovery of a significant underlying genetic variant may affect management decisions and subsequent follow-up.

A Comparison of Repeatability and Usability of Semi-Automated Volume Segmentation Tools for Measurement of Vestibular Schwannomas.

OBJECTIVE: Semi-automated volume segmentation tools (SAVST) offer a less time consuming technique compared with manual volume segmentation method. No data exists to suggest which of the available applications are optimal for use with vestibular schwannomas (VS). This study aims to compare repeatability and usability of three different SAVST for measurement of VS. STUDY DESIGN: Experimental comparison of three SAVST. SETTING: Tertiary skull base unit. PATIENTS: Twenty-four patients with a unilateral VS imaged with T1-weighted Gadolinium enhanced MRI. INTERVENTION: Repeated measurements made to determine intra and inter-observer agreement. This was repeated using three different SAVST. MAIN OUTCOME MEASURES: 1) Intra- and inter-observer intraclass correlation coefficients (ICC), repeatability coefficients (RC), and relative smallest detectable differences (%SDD).2) Usability as determined by the mean number of steps and time required per tumor measurement and the proportion of cases where manual editing was required. RESULTS: Intra-observer ICCs were significantly better for SliceOmatic and OleaSphere than AW VolumeShare (0.998 versus 0.994, p < 0.05). Inter-observer ICCs were also better for SliceOmatic (0.994) and OleaSphere (0.989) compared with AW VolumeShare (0.976), however, this was only significant for SliceOmatic (p = 0.012). SliceOmatic had a poorer usability profile requiring more manual editing, time, and individual steps per measurement but its "watershed segmentation" algorithm was better at measuring cystic or heterogenous tumors. CONCLUSIONS: This is the first study to compare three SAVST for measurement of VS. While SliceOmatic had the highest repeatability, Olea Sphere combined comparable repeatability with improved usability and a greater degree of automation and was, therefore, deemed optimal for use in routine clinical practice.

Simultaneous labyrinthectomy with cochlear implantation in patients with bilateral Ménière's disease.

OBJECTIVE: The development of second-side Ménière's disease in the only remaining serviceable ear is difficult to treat. We describe an intervention to control disabling disease combining a labyrinthectomy and cochlear implant to restore hearing. METHODS: Following a thorough preoperative assessment and consenting process, 2 patients underwent labyrinthectomy of the affected ear with simultaneous cochlear implantation. RESULTS: Both patients achieved control of Ménière's attacks with improved hearing rehabilitation. Oscillopsia was noted by both patients. Both patients were pleased to have undergone the treatment. CONCLUSION: Severe symptomatic second-side Ménière's disease in the only hearing ear is uncommon. We report the successful treatment of 2 patients in this difficult management scenario, by simultaneous surgical labyrinthectomy and cochlear implantation. We propose this as a potential management strategy in this rare but complex group of patients in whom all less destructive measures have failed.

Middle ear gentamicin-soaked pledgets in the treatment of Ménière's disease.

OBJECTIVE: Assess the relative efficacy and results of the round window hyaluronic acid pledget depot method for intratympanic gentamicin delivery in Ménière's disease. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral hospital. PATIENTS: Prospective symptomatic and audiologic data were collected on 28 patients undergoing intratympanic gentamicin therapy for Ménière's disease refractory to medical treatment between 2003 and 2009. INTERVENTION: All patients had the round window membrane exposed via a tympanomeatal flap, and any adhesions were removed. Hyaluronic acid pledgets soaked in 40 mg/ml of gentamicin were then packed into the round window niche and posterior mesotympanum, and the tympanomeatal flap was replaced. MAIN OUTCOME MEASURES: Patients audiologic and vertigo symptom outcome scores were recorded at follow-up according to the AAO-HNS 1995 guidelines for reporting results in Ménière's disease. RESULTS: Complete or substantial improvement in vertigo (class A or B) was achieved in 88.5% (23/26) of patients. Hearing loss, defined as greater than 10 dB (PTA average at 0.5, 1, 2, and 4 kHz) was noted in 12 (50%) of 24 patients including 4 patients who had developed "dead ears" (16%). The average hearing loss for all patients excluding the 4 patients with dead ears was 10.7 dB. CONCLUSION: Round window hyaluronic acid pledget technique used as a sustained delivery vehicle for intratympanic gentamicin treatment for Ménière's disease produces similar rates of vertigo control compared with other techniques but a greater risk of hearing loss. We would recommend the intratympanicinjection titration technique as first line for most patients.

Trends in acoustic neuroma management: a 20-year review of the oxford skull base clinic.

Objective To describe the change in the management of acoustic neuromas at one United Kingdom center over a 20-year period and to compare this with what is known regarding trends in practice on a national and international scale. Design, Setting, and Participants Data was collected prospectively on all patients attending the Oxford Skull Base Clinic between 1990 and 2009. Main Outcome Measures The proportion of patients managed initially by observation versus radiotherapy versus surgery was recorded for each year. Results Significantly more patients received radiation treatment (instead of surgery) between 2000 and 2009 when compared with 1990 to 1999. Compared with national audit data, the Oxford Skull Base Clinic treats a higher proportion of patients with radiotherapy and significantly lower proportion with surgery, though the trend nationally is toward more observation and radiotherapy and less surgery. Conclusion Surgery will remain crucial in the management of some patients with acoustic neuromas (usually those with the larger tumors where radiosurgery is recognized to be less appropriate), but using current trends to predict future practice would suggest that alternative nonmicrosurgical treatment may play an increasingly important role in the future.

Balloon dilatation of tracheostomal stenosis with cuffed tracheostomy tube. A novel approach to tracheostomal dilatation.

Postlaryngectomy tracheostomal stenosis is a common complication. Stomal narrowing can be severe, requiring urgent management with dilatation of the stoma. There are numerous ways to achieve this, ranging from forcibly inserting a larger tracheostomy tube, using a graduated dilator, to surgical intervention in the form of a stomaplasty. We describe an alternative technique using a readily available cuffed tracheostomy tube.