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Background: The rehabilitation options for hearing loss as sequelae of chronic otitis media (COM) typically include acoustic hearing aids, ossicular chain reconstruction surgery and bone conduction implants. Although the majority of patients will derive sufficient benefit from one or more of these options, each has potential advantages, disadvantages and limitations. The Vibrant Soundbridge is a semi-implantable electromagnetic middle ear device. The recent introduction of new or updated couplers has expanded options for attaching the floating mass transducer (FMT) to the most appropriate middle ear structure with improved surgical efficiency. Objective: This presentation describes challenging cases of hearing rehabilitation in the context of COM, the decision making process, surgical and audiological outcomes and potential pitfalls. Method: The study evaluated five patients with a known history of COM who were referred to our centre specifically for hearing rehabilitation between 2014 and 2017. Previous history of middle ear surgery and hearing aid usage were noted. Assessment included pure tone audiometry (PTA), Bamford Kowal Bench (BKB) and Arthur Boothroyd (AB) speech perception testing (at 65 dBSPL and 50dBSPL sound presentation levels). Device activation was typically carried out six weeks post-operatively. Aided speech perception scores were obtained after at least three months of device usage. Results: The FMT was coupled to the stapes in two cases, to the round window in two and the long process of incus in the other. No surgical complications were encountered. There was no significant change in the bone conduction (BC) thresholds. Significant improvement in speech perception scores was observed in all cases. All patients are highly satisfied with their implant and use the device all day. Conclusion: The Vibrant Soundbridge is a valuable addition to the armamentarium for rehabilitation of complex hearing loss secondary to chronic otitis media. [ABSTRACT FROM AUTHOR]

There is no consensus regarding the use of perioperative or postoperative (prophylactic) antibiotics specific for cochlear implant (CI) surgery. Prophylactic antibiotics inhibit the growth of contaminating bacteria. With particular respect to prosthetic implants they can reduce adherence to the device. The aim of this study is to assess our perioperative and prophylactic prescribing of antibiotics who have undergone cochlear implantation in a single centre. The overall incidence of post-operative infection following CI surgery in our centre is also determined. Methods: A retrospective review was performed of all adult and paediatric patients who underwent cochlear implantation at St. Thomas' Hearing Implant Centre between 01/06/2014 and 30/09/17. Relevant data for the study were collected from the departmental implant database (Auditbase). Relevant information regarding antibiotic prescribing (both perioperative and postoperative) was obtained from the patient's record. Results : 435 CI cases were identified. All received intravenous antibiotics peri-operatively but prophylactic antibiotics varied. The overall infection rate was 5.5% (n=24/435), including 17 superficial wound infections and 7cases of AOM. These were categorised into minor infections (n=18, 4.1% of total) and major infections (n=6, 1.4%). With respect to the minor cases, 17 patients required oral antibiotics and one patient required topical treatment. Five of the six major cases resolved with intravenous antibiotics, followed by oral antibiotics. One case resulted in explantation. Of the 24 cases of post-operative infection, 6 patients (25%) had received intravenous perioperative antibiotics only, compared with 18 (75%) who had received a one week course of prophylactic oral antibiotics in addition. Conclusion: There is insufficient evidence found in the literature to suggest that prophylactic antibiotics in ear surgery reduces postoperative complications, which is consistent with our findings. The use of prophylactic antibiotics should be used at the discretion of the surgical team and based on sound reasoning with respect to the individual patient's risk factors and the micoorganisms that need to be covered. We acknowledge that antibiotics will be required in a cohort of patients. [ABSTRACT FROM AUTHOR]

Aim: Day case surgery was originally described as far back as 1909. Even then, the now accepted advantages were recognized, including reduced hospital infection rates, financial benefits and reduced pressure on hospital beds. Cochlear implant (CI) surgery has traditionally required inpatient stay in hospital. The aim of this study is to determine the viability of day case cochlear implant surgery in our unit and to develop strategies to increase the rates of same day discharge if possible. Methods: A retrospective review was carried out of all adult and paediatric patients who underwent cochlear implantation in a single centre (Guy's and St Thomas' Hospital) between January 2014-October 2017. Patients were obtained from a prospectively created departmental database and data captured from the medical notes. Every patient had a post-operative follow-up between 7-10 days after surgery and clinical progress was formally recorded subsequently. Results : During the study period 511 CI were performed. This included 334 paediatric CI (193 patients) and 177 adult CI (41 patients). The total number of complications was 14 (3.7%), including local wound infections (9 patients), wound dehiscence (2 patients) and vertigo/dizziness/nausea requiring an extended stay (3 patients). 11 (5.7%) paediatric and 15 (8.4%) adult patients were discharged on the same day of surgery (7% of total). Only one patient (3.8%) experienced a complication (a minor wound infection). Conclusion: Day case CI surgery appears to be safe practice. We did not encounter any complications within the first 72 hours in those patients discharged on the same day of surgery. We aim to increase our day case CI surgery rates, whilst acknowledging that it may not possible in all cases. We have implemented changes in the department to increase the number of day case patients who are suitable for CI surgery. We are also prospectively collecting patient satisfaction questionnaires. [ABSTRACT FROM AUTHOR]

Objective: To evaluate long-term outcomes of electroacoustic stimulation (EAS) cochlear implants Design: A retrospective case note review Setting: A tertiary hearing implant centre Participants: All adult patients undergoing EAS cochlear implantation between 2003 and 2016 were identified from the departmental cochlear implant database. Main outcome measures: Outcome measures included preand post-operative pure tone thresholds (250Hz, 500Hz, 750Hz and 1kHz), speech perception scores (Bamford- Kowal- Bench (BKB) sentence testing, Arthur Boothroyd (AB) words and the mode of stimulation (EAS vs fully electrical). Results: 38 patients were implanted unilaterally using hearing preservation surgical techniques and with an EAS intent. The mean duration of follow-up was 5.1 years (range 3 months to 13 years). Eight patients (21.1%) experienced a complete loss of all residual hearing in the immediate or early post-operative period (within four weeks of surgery) and required a fully electrical switch-on. The other 30 patients (78.9%) had sufficient hearing preservation to enable EAS at least initially. All 38 patients had improvement in their speech perception scores post-implantation. Of the 30 patients who started with EAS, ten patients (26.3% of total) had progressive deterioration of residual hearing over a period of 3 months to 7 years and required a switch-over from EAS to fully electrical stimulation. In eight out of these 10 patients, the implant performance was maintained. In the other two patients, some deterioration in their implant performance was observed following the change in stimulation modality, but their speech perception scores with fully electrical stimulation were still better than the pre-CI scores. Conclusion: In our cohort, patients continue to benefit from implantation even when the residual hearing was lost and fully electrical stimulation was required. In cases of late hearing loss necessitating a switch-over from EAS to fully electrical stimulation, the implant performance was successfully maintained in the majority of patients even after the change in stimulation modality. When considering hearing rehabilitation options in individuals who still have significant residual hearing that could be lost through cochlear implantation, it is important to be able to provide patients with as accurate, realistic and comprehensible information as possible regarding their prognosis. [ABSTRACT FROM AUTHOR]

Background: The introduction of the electronic health record (EHR) has improved the collection and storage of patient information, enhancing clinical communication and academic research. However, EHRs are limited by data quality and the time-consuming task of manual data extraction. This study aimed to use process mapping to help identify critical data entry points within the clinical pathway for patients with vestibular schwannoma (VS) ideal for structured data entry and automated data collection to improve patient care and research., Methods: A 2-stage methodology was used at a neurosurgical unit. Process maps were developed using semi-structured interviews with stakeholders in the management of VS resection. Process maps were then retrospectively validated against EHRs for patients admitted between August 2019 and December 2021, establishing critical data entry points., Results: In the process map development, 20 stakeholders were interviewed. Process maps were validated against EHRs of 36 patients admitted for VS resection. Operative notes, surgical inpatient reviews (including ward rounds), and discharge summaries were available for all patients, representing critical data entry points. Areas for documentation improvement were in the preoperative clinics (30/36; 83.3%), preoperative skull base multidisciplinary team (32/36; 88.9%), postoperative follow-up clinics (32/36; 88.9%), and postoperative skull base multidisciplinary team meeting (29/36; 80.6%)., Conclusions: This is a first use to our knowledge of a 2-stage methodology for process mapping the clinical pathway for patients undergoing VS resection. We identified critical data entry points that can be targeted for structured data entry and for automated data collection tools, positively impacting patient care and research., (Crown Copyright © 2024. Published by Elsevier Inc. All rights reserved.)

Objectives: New diagnostic criteria for NF2-related schwannomatosis (NF2) were published in 2022. An updated UK prevalence was generated in accordance with these, with an emphasis on the rate of de novo NF2 (a 50% frequency is widely quoted in genetic counselling). The distribution of variant types among de novo and familial NF2 cases was also assessed., Methods: The UK National NF2 database identifies patients meeting updated NF2 criteria from a highly ascertained population cared for by England's specialised service. Diagnostic prevalence was assessed on 1 February 2023. Molecular analysis of blood and, where possible, tumour specimens for NF2, LZTR1 and SMARCB1 was performed., Results: 1084 living NF2 patients were identified on prevalence day (equivalent to 1 in 61 332). The proportion with NF2 inherited from an affected parent was only 23% in England. If people without a confirmed molecular diagnosis or bilateral vestibular schwannoma are excluded, the frequency of de novo NF2 remains high (72%). Of the identified de novo cases, almost half were mosaic. The most common variant type was nonsense variants, accounting for 173/697 (24.8%) of people with an established variant, but only 18/235 (7.7%) with an inherited NF2 pathogenic variant (p<0.0001). Missense variants had the highest proportion of familial association (56%). The prevalence of LZTR1 -related schwannomatosis and SMARCB1 -related schwannomatosis was 1 in 527 000 and 1 in 1.1M, respectively, 8.4-18.4 times lower than NF2., Conclusions: This work confirms a much higher rate of de novo NF2 than previously reported and highlights the benefits of maintaining patient databases for accurate counselling., Competing Interests: Competing interests: DGE has received consultancy fees from AstraZeneca, Springworks and Everything Genetic Ltd., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours. Pathogenic variants have been identified in more than 15 susceptibility genes; associated tumours are grouped into three Clusters, reinforced by their transcriptional profiles. Cluster 1A PPGLs have pathogenic variants affecting enzymes of the tricarboxylic acid cycle, including succinate dehydrogenase. Within inherited PPGLs, these are the most common. PPGL tumours are known to undergo epigenetic reprograming, and here, we report on global histone post-translational modifications and DNA methylation levels, alongside clinical phenotypes., Results: Out of the 25 histone post-translational modifications examined, Cluster 1A PPGLs were distinguished from other tumours by a decrease in hyper-acetylated peptides and an increase in H3K4me2. DNA methylation was compared between tumours from individuals who developed metastatic disease versus those that did not. The majority of differentially methylated sites identified tended to be completely methylated or unmethylated in non-metastatic tumours, with low inter-sample variance. Metastatic tumours by contrast consistently had an intermediate DNA methylation state, including the ephrin receptor EPHA4 and its ligand EFNA3. Gene expression analyses performed to identify genes involved in metastatic tumour behaviour pin-pointed a number of genes previously described as mis-regulated in Cluster 1A tumours, as well as highlighting the tumour suppressor RGS22 and the pituitary tumour-transforming gene PTTG1., Conclusions: Combined transcriptomic and DNA methylation analyses revealed aberrant pathways, including ones that could be implicated in metastatic phenotypes and, for the first time, we report a decrease in hyper-acetylated histone marks in Cluster 1 PPGLs., (© 2023. The Author(s).)

Purpose: We present a prospective case series that aimed to report the functional (voice and swallowing) outcomes of delayed laryngeal reinnervation following vagal interruption by resection of vagal paraganglioma and schwannoma., Materials and Methods: A dedicated, anonymized database was established in 2012 with a minimum eighteen-month follow up set for this report. Internationally validated self- and observer-reported measures were recorded preoperatively and at six, 12 and, 18 months together with demographics, diagnoses, and operative details., Results: A total of eight patients with a median age of 46 (37-54) underwent excision of vagal paraganglioma (five) and schwannoma (three) with few mild complications. Three underwent selective and five non selective reinnervation. Seven out of eight patients underwent synchronous injection medialization. The voice handicap index (VHI-30) improved from a baseline median 83 (range 52-102) to 7.5 (5-58) at 18 months; maximum phonation time improved from median 8 (range 5-15) to 10.5 (8.5-11); voice grade ("G" in grade, roughness, breathiness, asthenia, and strain [GRBAS] scoring) improved from median three (severe impairment, range 0-3) to one (mild impairment, 0-2); Eating Assessment Tool (EAT-10) score improved from median 12 (range 3.5-27) preoperatively to one (0-16); and reflux symptom index (RSI) improved from median 25 (range 17-36) to 7 (0-36). One patient exhibited no discernible reinnervation, while the remainder exhibited good cord bulk and tone, though without purposive abduction., Conclusion: Delayed laryngeal reinnervation for high vagal paralysis is a safe technique associated with good voice and swallowing outcomes by 12-18 months. Potential confounders in this small series and the absence of a control arm both limit conclusions, but this study suggests that further prospective, controlled studies, and/or case registration are merited., (Copyright © 2021 The Voice Foundation. Published by Elsevier Inc. All rights reserved.)

Background: Radiation treatment of benign tumors in tumor predisposition syndromes is controversial, but short-term studies from treatment centers suggest safety despite apparent radiation-associated malignancy being reported. We determined whether radiation treatment in NF2-related schwannomatosis patients is associated with increased rates of subsequent malignancy (M)/malignant progression (MP)., Methods: All UK patients with NF2 were eligible if they had a clinical/molecular diagnosis. Cases were NF2 patients treated with radiation for benign tumors. Controls were matched for treatment location with surgical/medical treatments based on age and year of treatment. Prospective data collection began in 1990 with addition of retrospective cases in 1969. Kaplan-Meier analysis was performed for malignancy incidence and survival. Outcomes were central nervous system (CNS) M/MP (2cm annualized diameter growth) and survival from index tumor treatment., Results: In total, 1345 NF2 patients, 266 (133-Male) underwent radiation treatments between 1969 and 2021 with median first radiotherapy age of 32.9 (IQR = 22.4-46.0). Nine subsequent CNS malignancies/MPs were identified in cases with only 4 in 1079 untreated ( P < .001). Lifetime and 20-year CNS M/MP was ~6% in all irradiated patients-(4.9% for vestibular schwannomas [VS] radiotherapy) versus <1% in the non-irradiated population ( P < .001/.01). Controls were well matched for age at NF2 diagnosis and treatment (Males = 133%-50%) and had no M/MP in the CNS post-index tumor treatment ( P = .0016). Thirty-year survival from index tumor treatment was 45.62% (95% CI = 34.0-56.5) for cases and 66.4% (57.3-74.0) for controls ( P = .02), but was nonsignificantly worse for VS radiotherapy., Conclusion: NF2 patients should not be offered radiotherapy as first-line treatment of benign tumors and should be given a frank discussion of the potential 5% excess absolute risk of M/MP., Competing Interests: None other than many of the authors are surgeons, but 4 are oncologists., (© The Author(s) 2023. Published by Oxford University Press, the Society for Neuro-Oncology and the European Association of Neuro-Oncology.)

Introduction: Dizziness is a common disorder, particularly among the elderly population. Aim of this paper was to revise the current concepts surrounding the relationship between dizziness, psychological disorders and cognitive decline., Evidence Acquisition: This is a PRISMA-compliant systematic review, including observational studies in people with dizziness. Database inception, Medline/Cochrane/Embase/Web of Science/Scopus/NHS evidence were searched until October 30, 2019., Evidence Synthesis: Overall 22 studies, and 65,730 participants were included. Eleven studies were cross-sectional, 7 cross-sectional controlled, 2 prospective case-control, 1 retrospective case series, and 1 cohort study. The persistence of vestibular impairment (for 6 months or more) was correlated to the presence of psychological disorders affecting patient's Quality of Life and causing social anxiety, particularly in some conditions such as Ménière's disease. Interestingly, vestibular loss has been also correlated to cognitive impairment, with certain vestibular dysfunctions reported to be more prevalent in cognitive impaired individuals., Conclusions: The current literature suggests that there is an association between vestibular function, psychological disorders and cognitive functions. The findings from this review could be useful in informing on the need for a multidimensional diagnostic and rehabilitative programs for patients with dizziness. More studies could explore the role of counseling or behavioral therapy with an aim to reduce the perceived dizziness-related disability.

Objective  An operative workflow systematically compartmentalizes operations into hierarchal components of phases, steps, instrument, technique errors, and event errors. Operative workflow provides a foundation for education, training, and understanding of surgical variation. In this Part 2, we present a codified operative workflow for the translabyrinthine approach to vestibular schwannoma resection. Methods  A mixed-method consensus process of literature review, small-group Delphi's consensus, followed by a national Delphi's consensus was performed in collaboration with British Skull Base Society (BSBS). Each Delphi's round was repeated until data saturation and over 90% consensus was reached. Results  Seventeen consultant skull base surgeons (nine neurosurgeons and eight ENT [ear, nose, and throat]) with median of 13.9 years of experience (interquartile range: 18.1 years) of independent practice participated. There was a 100% response rate across both the Delphi rounds. The translabyrinthine approach had the following five phases and 57 unique steps: Phase 1, approach and exposure; Phase 2, mastoidectomy; Phase 3, internal auditory canal and dural opening; Phase 4, tumor debulking and excision; and Phase 5, closure. Conclusion  We present Part 2 of a national, multicenter, consensus-derived, codified operative workflow for the translabyrinthine approach to vestibular schwannomas. The five phases contain the operative, steps, instruments, technique errors, and event errors. The codified translabyrinthine approach presented in this manuscript can serve as foundational research for future work, such as the application of artificial intelligence to vestibular schwannoma resection and comparative surgical research., Competing Interests: Conflict of Interest J.C. receives research grants and consultancy fees from Medtronic (Dublin, Ireland). J.C. is the associate medical director of CMR surgical (Cambridge, United Kingdom). D.S. is a shareholder in Odin Vision Ltd (London, United Kingdom) and is an employee of Digital Surgery (London, United Kingdom). H.L.H., H.J.M., C.H.K., and W.M. are supported by the Wellcome/EPSRC Centre for Interventional and Surgical Sciences, University College London. D.Z.K. is supported by an National Institute for Health and Care Research (NIHR) Academic Clinical Fellowship. H.J.M. is also funded by the NIHR Biomedical Research Centre at University College London. All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers' bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or nonfinancial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).)

Objective  An operative workflow systematically compartmentalizes operations into hierarchal components of phases, steps, instrument, technique errors, and event errors. Operative workflow provides a foundation for education, training, and understanding of surgical variation. In this Part 1, we present a codified operative workflow for the retrosigmoid approach to vestibular schwannoma resection. Methods  A mixed-method consensus process of literature review, small-group Delphi's consensus, followed by a national Delphi's consensus, was performed in collaboration with British Skull Base Society (BSBS). Each Delphi's round was repeated until data saturation and over 90% consensus was reached. Results  Eighteen consultant skull base surgeons (10 neurosurgeons and 8 ENT [ear, nose, and throat]) with median 17.9 years of experience (interquartile range: 17.5 years) of independent practice participated. There was a 100% response rate across both Delphi's rounds. The operative workflow for the retrosigmoid approach contained three phases and 40 unique steps as follows: phase 1, approach and exposure; phase 2, tumor debulking and excision; phase 3, closure. For the retrosigmoid approach, technique, and event error for each operative step was also described. Conclusion  We present Part 1 of a national, multicenter, consensus-derived, codified operative workflow for the retrosigmoid approach to vestibular schwannomas that encompasses phases, steps, instruments, technique errors, and event errors. The codified retrosigmoid approach presented in this manuscript can serve as foundational research for future work, such as operative workflow analysis or neurosurgical simulation and education., Competing Interests: Conflict of Interest J.C. receives research grants and consultancy fees from Medtronic (Dublin, Ireland). J.C. is the associate medical director of CMR surgical (Cambridge, United Kingdom). D.S. is a shareholder in Odin Vision Ltd. (London, United Kingdom) and is an employee of Digital Surgery (London, United Kingdom). H.L.H., H.J.M., C.H.K., and W.M. are supported by the Wellcome/EPSRC Centre for Interventional and Surgical Sciences, University College London. D.Z.K. is supported by an National Institute for Health and Care Research (NIHR) Academic Clinical Fellowship. H.J.M. is also funded by the NIHR Biomedical Research Centre at University College London. All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers' bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or nonfinancial interest (such as personal or professional relationships, affiliations, knowledge, or beliefs) in the subject matter or materials discussed in this manuscript., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).)

Objective: To review the outcomes of cochlear implants (CI) in patients with neurofibromatosis type 2 (NF2) in a large cohort, and identify factors associated with poor hearing benefit., Study Design: Fifteen-year retrospective national observational case series., Setting: United Kingdom regional NF2 multidisciplinary teams., Patients: Consecutive patients with NF2 receiving a CI., Interventions: CI for hearing rehabilitation., Main Outcome Measures: 1) Audiometric performance at 9 to 12 months after implantation using City University of New York (CUNY) sentence recognition score, and Bamford- Kowal-Bench (BKB) word recognition score in quiet (BKBq), and in noise (BKBn). 2) CI use at most recent review., Results: Sixty four consecutive patients, median age 43 years, were included. Nine to 12 months mean audiometric scores were: CUNY 60.9%, BKBq 45.8%, BKBn 41.6%. There was no difference in audiometric outcomes between VS treatment modalities. At most recent review (median 3.6 years from implantation), 84.9% with device in situ/available data were full or part-time users. Between 9 and 12 months and most recent review there was an interval reduction in mean audiometric scores: CUNY -12.9%, BKBq -3.3%, BKBn -4.9%. Larger tumor size and shorter duration of profound hearing loss were the only variables associated with poorer audiometric scores. Tumor growth at the time of surgery was the only variable associated with CI non-use. Individual patient response was highly variable., Conclusions: CI can provide significant and sustained auditory benefits to patients with NF2 independent of tumor treatment modality, with the majority of those implanted becoming at least part-time users. Larger datasets are required to reliably assess the role of independent variables., Competing Interests: The authors disclose no conflicts of interest., (Copyright © 2022, Otology & Neurotology, Inc.)

Objective: Phaeochromocytomas and paragangliomas (PPGL) are rare, but strongly heritable tumours. Variants in succinate dehydrogenase (SDH) subunits are identified in approximately 25% of cases. However, clinical and genetic information of patients with SDHC variants are underreported., Design: This retrospective case series collated data from 18 UK Genetics and Endocrinology departments., Patients: Both asymptomatic and disease-affected patients with confirmed SDHC germline variants are included., Measurements: Clinical data including tumour type and location, surveillance outcomes and interventions, SDHC genetic variant assessment, interpretation, and tumour risk calculation., Results: We report 91 SDHC cases, 46 probands and 45 non-probands. Fifty-one cases were disease-affected. Median age at genetic diagnosis was 43 years (range: 11-79). Twenty-four SDHC germline variants were identified including six novel variants. Head and neck paraganglioma (HNPGL, n = 30, 65.2%), extra-adrenal paraganglioma (EAPGL, n = 13, 28.2%) and phaeochromocytomas (PCC) (n = 3, 6.5%) were present. One case had multiple PPGLs. Malignant disease was reported in 19.6% (9/46). Eight cases had non-PPGL SDHC-associated tumours, six gastrointestinal stromal tumours (GIST) and two renal cell cancers (RCC). Cumulative tumour risk (95% CI) at age 60 years was 0.94 (CI: 0.79-0.99) in probands, and 0.16 (CI: 0-0.31) in non-probands, respectively., Conclusions: This study describes the largest cohort of 91 SDHC patients worldwide. We confirm disease-affected SDHC variant cases develop isolated HNPGL disease in nearly 2/3 of patients, EAPGL and PCC in 1/3, with an increased risk of GIST and RCC. One fifth developed malignant disease, requiring comprehensive lifelong tumour screening and surveillance., (© 2021 John Wiley & Sons Ltd.)

Objective: The growth characteristics of vestibular schwannomas (VSs) under surveillance can be studied using a Bayesian method of growth risk stratification by time after surveillance onset, allowing dynamic evaluations of growth risks. There is no consensus on the optimum surveillance strategy in terms of frequency and duration, particularly for long-term growth risks. In this study, the long-term conditional probability of new VS growth was reported for patients after 5 years of demonstrated nongrowth. This allowed modeling of long-term VS growth risks, the creation of an evidence-based surveillance protocol, and the proposal of a cost-benefit analysis decision aid., Methods: The authors performed an international multicenter retrospective analysis of prospectively collected databases from five tertiary care referral skull base units. Patients diagnosed with sporadic unilateral VS between 1990 and 2010 who had a minimum of 10 years of surveillance MRI showing VS nongrowth in the first 5 years of follow-up were included in the analysis. Conditional probabilities of growth were calculated according to Bayes' theorem, and nonlinear regression analyses allowed modeling of growth. A cost-benefit analysis was also performed., Results: A total of 354 patients were included in the study. Across the surveillance period from 6 to 10 years postdiagnosis, a total of 12 tumors were seen to grow (3.4%). There was no significant difference in long-term growth risk for intracanalicular versus extracanalicular VSs (p = 0.41). At 6 years, the residual conditional probability of growth from this point onward was seen to be 2.28% (95% CI 0.70%-5.44%); at 7 years, 1.35% (95% CI 0.25%-4.10%); at 8 years, 0.80% (95% CI 0.07%-3.25%); at 9 years, 0.47% (95% CI 0.01%-2.71%); and at 10 years, 0.28% (95% CI 0.00%-2.37%). Modeling determined that the remaining lifetime risk of growth would be less than 1% at 7 years 7 months, less than 0.5% at 8 years 11 months, and less than 0.25% at 10 years 4 months., Conclusions: This multicenter study evaluates the conditional probability of VS growth in patients with long-term VS surveillance (6-10 years). On the basis of these growth risks, the authors posited a surveillance protocol with imaging at 6 months (t = 0.5), annually for 3 years (t = 1.5, 2.5, 3.5), twice at 2-year intervals (t = 5.5, 7.5), and a final scan after 3 years (t = 10.5). This can be used to better inform patients of their risk of growth at particular points along their surveillance timeline, balancing the risk of missing late growth with the costs of repeated imaging. A cost-benefit analysis decision aid was also proposed to allow units to make their own decisions regarding the cessation of surveillance.

Objective: Succinate dehydrogenase subunit (SDHx) pathogenic variants predispose to phaeochromocytoma and paraganglioma (PPGL). Lifelong surveillance is recommended for all patients to enable prompt detection and treatment. There is currently limited evidence for optimal surveillance strategies in hereditary PPGL. We aim to detail the clinical presentation of PPGL in our cohort of non-index SDHB and SDHD pathogenic variant carriers., Methods: Retrospective analysis of medical and genetic records from a single tertiary referral centre identified SDHB or SDHD pathogenic variants in 74 non-index cases (56 SDHB and 18 SDHD). Surveillance screening for asymptomatic relatives consisted of annual plasma metanephrine measurement and whole-body MRI with contrast at 3-5 yearly intervals., Results: Twenty-three out of 74 non-index patients (10 SDHB and 13 SDHD) were diagnosed with PPGL, 17 patients through surveillance screening (24 tumours in total) and 6 diagnosed prior to commencement of cascade screening with symptomatic presentation. MRI with contrast identified PPGL in 22/24 screen-detected tumours and 5/24 tumours had elevated plasma metanephrine levels. Penetrance in non-index family members was 15.2 and 47.2% for SDHB carriers and 71.6 and 78.7% for SDHD carriers at age of 50 and 70 years, respectively., Conclusion: Surveillance screening with combined biochemical testing and imaging enables early detection of PPGL in asymptomatic relatives with SDHx pathogenic variants. The presence of disease at first screen was significant in our cohort and hence further multi-centre long-term data are needed to inform counselling of family members undergoing lifelong surveillance.

Head and neck paragangliomas (HNPGLs) are rare tumours with ~ 30% genetic mutations, mainly in succinate dehydrogenase (SDHx) genes. The utility of FDG PET-CT in HNPGLs is questioned by recent developments in novel radiotracers. We therefore performed a retrospective study in a single tertiary referral centre to address the utility of FDG PET/CT in HNPGLs., Methods: Clinical data on genetic testing and follow-up were collected for patients who had FDG PET-CT scans from 2004 to 2016. Receiver operator characteristic (ROC) analysis was used to compare standardized uptake values (SUVs), metabolic tumour volume (MTV) and total lesion glycolysis (TLG) between lesions in patients who had a clinically related event: event (+) and those who did not: event (-). Similarly, we compared PET parameters between SDHx+ patients and a control group with low probability of mutation., Results: Of 153 HNPGL patients, 73 (29 SDHx+) with 93 FDG-positive lesions were identified: 53.8% of lesions were assessed in a pre-therapeutic setting. In comparison with a reference extracted from clinicoradiological database, FDG PET-CT showed good performance to detect HNPGLs (96.6% accuracy). In this study population, 16 disease progression, 1 recurrence and 1 death were recorded and event (+) patients had lesions with higher SUVmax (p = .03 and p = .02, respectively). Conversely, there were no differences in PET parameters between lesions in SDHx+ patients and controls with low probability of SDHx+ mutations., Conclusions: FDG PET-CT has clinical utility in HNPGLs, mostly before local treatment. There were no significant differences in PET parameters between SDHx patients and a sporadic HNPGL population. However, regardless of SDHx mutation status, a high SUVmax was associated with more clinical events and prompts to a closer follow-up., (© 2021 John Wiley & Sons Ltd.)

We report a novel case of multiple paragangliomas in a patient who was identified with pathogenic variants in both NF1 and SDHD genes. The proband is a man with known familial NF1 disease, diagnosed clinically in childhood. Multiple head and neck paragangliomas (HNPGL) were found during investigations for acute left sided neurological symptoms, in the region of his known plexiform neurofibroma. He was referred for genetic counselling. He underwent surgery to remove a left carotid body tumor (CBT). A pheochromocytoma and paraganglioma gene panel was tested. Blood and HNPGL tumor DNA were analyzed by whole exome sequencing. In addition to the NF1 truncating variant c.5107delA, p.(Ser1703AlafsTer7), the SDHD truncating pathogenic variant c.3G > A, p.(Met1?) was found. Tumor sequencing showed no LOH of SDHD or NF1, but monoallelic loss of 11p15 and 11q12.2-q12.3 was observed. Co-occurrence of pathogenic variants in multiple cancer susceptibility genes is rare but possible, identified by the increased use of panel testing. This is the first description of a patient presenting with NF1 and SDHD dual pathology, with HNPGL development due to SDHD. This case illustrates the central role of genetic sequencing in PPGLs and the strong genotype-phenotype correlations of different genes., Competing Interests: Declaration of Competing Interest The authors declare that they have no conflict of interest., (Copyright © 2021. Published by Elsevier Inc.)

Background: Over 50% of patients with head-and-neck squamous cell carcinoma (HNSCC) experience locoregional recurrence, which is associated with poor outcome. In the course of follow-up for patients surviving primary surgery for HNSCC, one might ask: What is the probability of recurrence in one year considering that the cancer has not yet recurred to date?, Materials and Methods: To answer this question, 979 patients surgically treated for HNSCC (i.e. cancer of the oral cavity, oropharynx, hypopharynx or larynx) between March 2004 and June 2018 were enrolled in a multicenter retrospective cohort study, followed up for death and recurrence over a 5 year period. The conditional probability of recurrence in 12 months - i.e. the probability of recurrence in the next 12 months given that, to date, the patient has not recurred - was derived from the cumulative incidence function (Aalen-Johansen method)., Results: Overall, the probability of recurrence was the highest during the first (17.3%) and the second years (9.6%) after surgery, declining thereafter to less than 5.0% a year thereafter. The probability of recurrence was significantly higher for stage III-IV HNSCCs than for stage I-II HNSCCs in the first year after surgery (20.4% versus 10.0%; p  < 0.01), but not thereafter. This difference was most pronounced for oral cavity cancers. No significant differences were observed across different tumor sites., Conclusion: This dynamic evaluation of recurrence risk in patients surgically treated for HNSCC provides helpful and clinically meaningful information, which can be useful to patients in planning their future life, and to clinicians in tailoring post-treatment surveillance according to a more personalized risk stratification.

Objectives: The primary objective was to determine whether the narrowest dimensions of the labyrinthine facial nerve (LFN) canal on the symptomatic side in patients with unilateral recurrent Bell's palsy (BP) differ from those on the contralateral side or in asymptomatic, age- and gender-matched controls on computed tomography (CT). The secondary objectives were to assess the extent of bony covering at the geniculate ganglion and to record inter-observer reliability of the CT measurements., Methods: The dimensions of the LFN canal at its narrowest point perpendicular to the long axis and the extent of bony covering at the geniculate ganglion were assessed by two radiologists. Statistical analysis was performed using the Wilcoxon signed-rank and Mann-Whitney U tests (LFN canal dimensions) and the Chi-squared test (bony covering at the geniculate ganglion). Inter-observer reliability was evaluated using Intra-Class Correlation (ICC) and Cohen's kappa., Results: The study included 21 patients with unilateral recurrent BP and 21 asymptomatic controls. There was no significant difference in the narrowest dimensions of the ipsilateral LFN canal when compared to the contralateral side or controls ( P  = .43-.94). Similarly, there was no significant difference in the extent of bony covering at the geniculate ganglion when compared to either group ( P  = .19-.8). Good inter-observer reliability was observed for LFN measurements (ICC = 0.75-0.88) but not for the bony covering at the geniculate ganglion (Cohen's kappa = 0.53)., Conclusion: The narrowest dimensions of the LFN canal and the extent of bony covering at the geniculate ganglion do not differ in unilateral recurrent BP, casting doubt over their etiological significance., Level of Evidence: Level IV., Competing Interests: The authors declare no conflicts of interest., (© 2021 The Authors. Laryngoscope Investigative Otolaryngology published by Wiley Periodicals LLC on behalf of The Triological Society.)

Aim: To assess the current opinion on the effects of hearing loss treatment by hearing aids (HAs) and the benefits of HA use on imbalance., Methods: PRISMA-compliant systematic review was done, including observational studies in patients affected by mild to severe sensorineural hearing loss with HAs, investigating the benefits of HAs on balance. Electronic searches were performed through Medline, Cochrane, Embase, Web of Science, and Scopus., Results: A total of 200 patients in 8 studies were included in this systematic review. Four studies were cross-sectional, 3 cross-sectional controlled and 1 prospective nonrandomized study. Static and dynamic balance in the aided condition improved in patients assessed using clinical investigations including Romberg test and Functional Ambulation Performance/mini-BESTest, respectively. Variable outcomes were found measuring static and dynamic balance during the aided condition with objective tests (computerized posturography, Mobility Lab device). Improved quality of life outcomes and self-confidence were noted, while subjective measurements of balance had conflicting results., Conclusion: Although an improvement in balance in patients with HAs has been shown in certain conditions, the overall benefit is still unclear and it is only possible to speculate that HAs may also improve static, dynamic, or subjective perception of balance function in adults affected by hearing loss., (© 2020 S. Karger AG, Basel.)

The management of head and neck paragangliomas (HNPGLs) has changed significantly in recent years. There is, however, an absence of guidance in the literature regarding the optimal means of managing this challenging disease. This consensus document, developed by the British Skull Base Society, sets out recommendations for management of HNPGLs. A preliminary document was produced on the basis of current practice in 3 large UK skull base centers, incorporating relevant peer-reviewed evidence. This document was then modified by discussion within these units, through a national survey of British Skull Base Society members, and through discussion with stakeholders. A consensus was reached on the management of all forms of HNPGL. All patients should be managed by a multidisciplinary team and require initial surgical, endocrine, and genetic assessments as well as magnetic resonance imaging of the head, neck, chest, abdomen, and pelvis. Long-term preservation of function is the primary treatment goal, with conservative management the first choice treatment for most tumors. Radiotherapy is a safe, effective treatment for growing tumors in most cases, although there is a limited role for surgery. Screening of family members in high-risk groups is mandatory. These guidelines should help standardize high-quality care for patients with HNPGLs.

Importance: An altered sense of smell and taste has been reported to be associated with coronavirus disease 2019 (COVID-19). To understand the evolution of these symptoms during the course of the disease is important to identify patients with persistent loss of smell or taste and estimate the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on the burden of olfactory and gustative dysfunctions., Objective: To evaluate the evolution of the loss of sense of smell and taste in a case series of mildly symptomatic patients with SARS-CoV-2 infection., Design, Setting, and Participants: This cross-sectional survey-based study included 202 mildly symptomatic adults (≥18 years) consecutively assessed at Treviso Regional Hospital, Italy, between March 19 and March 22, 2020, who tested positive for SARS-CoV-2 RNA by polymerase chain reaction on nasopharyngeal and throat swabs., Main Outcomes and Measures: Prevalence of altered sense of smell and taste at follow-up and their variation from baseline., Results: Of 202 patients completing the survey at baseline, 187 (92.6%) also completed the follow-up survey (103 [55.1%] women; median age, 56 years). The evaluation of the evolution of altered sense of smell or taste in the 113 patients reporting sudden onset of these symptoms at baseline showed that 55 patients (48.7%; 95% CI, 39.2-58.3) reported complete resolution of smell or taste impairment, 46 (40.7%; 95% CI, 31.6-50.4) reported an improvement in the severity, and only 12 (10.6%; 95% CI, 5.6-17.8) reported the symptom was unchanged or worse. Persistent loss of smell or taste was not associated with persistent SARS-CoV-2 infection., Conclusions and Relevance: At 4 weeks from the onset, 89% of the SARS-CoV-2-positive mildly symptomatic patients who had had a sudden onset of altered sense of smell or taste experienced a complete resolution or improvement of these symptoms. Persistent loss of smell or taste was not associated with persistent SARS-CoV-2 infection.

Purpose: To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2)., Methods: Patients fulfilling NF2 criteria, but with no known affected family member from a previous generation (n = 1055), were tested for NF2 variants in lymphocyte DNA and where available tumor DNA. The proportion of individuals with a proven or presumed mosaic NF2 variant was assessed and allele frequencies of identified variants evaluated using next-generation sequencing., Results: The rate of proven/presumed mosaicism was 232/1055 (22.0%). However, nonmosaic heterozygous pathogenic variants were only identified in 387/1055 (36.7%). When variant detection rates in second generation nonmosaics were applied to de novo cases, we assessed the overall probable mosaicism rate to be 59.7%. This rate differed by age from 21.7% in those presenting with bilateral vestibular schwannoma <20 years to 80.7% in those aged ≥60 years. A mosaic variant was detected in all parents of affected children with a single-nucleotide pathogenic NF2 variant., Conclusion: This study has identified a very high probable mosaicism rate in de novo NF2, probably making NF2 the condition with the highest expressed rate of mosaicism in de novo dominant disease that is nonlethal in heterozygote form. Risks to offspring are small and probably correlate with variant allele frequency detected in blood.

Pheochromocytoma (PC) and paraganglioma (PGL) are rare neuroendocrine tumors that occur throughout the body from the base of the skull to the pelvis. Sympathetic catecholamine-secreting tumors may be associated with hyperadrenergic symptoms and long-term morbidity if they are untreated. Typically biochemically silent, head and neck PGLs may result in cranial nerve palsies and symptoms due to localized mass effect. Tumors can arise sporadically or as part of an inheritable PC-PGL syndrome. Up to 40% of tumors are recognized to be associated with germline mutations in an increasing array of susceptibility genes, including those that appear to arise sporadically. Most commonly, up to 25% of all PC-PGLs are associated with mutations in one of the succinate dehydrogenase (SDH) enzyme subunit genes. The resulting familial PC-PGL syndrome varies according to the affected enzyme subunit (most commonly SDHB and SDHD mutations) with respect to tumor prevalence, location, age of onset, and risk of malignancy. Patients with SDH enzyme mutations have increased lifetime risk of developing multifocal tumors and malignancy. Early recognition of individuals at high risk, genetic testing, screening of family members, and lifelong surveillance programs are recommended, but not without health, economic, and psychologic implications. Anatomic and functional imaging is key to diagnosis, staging, treatment planning, and lifelong surveillance of these individuals. Radiologists must be aware of the imaging appearance of these varied tumors. © RSNA, 2019.

Background: The published literature suggests that malignant peripheral nerve sheath tumors (MPNST) occur at increased frequency in neurofibromatosis type 2 (NF2). A recent review based on incidence data in North America showed that 1 per 1000 cerebellopontine angle nerve sheath tumors were malignant., Objective: To determine whether MPNST occurred spontaneously in NF2 by reviewing our NF2 database., Methods: The prospective database consists of 1253 patients with NF2. One thousand and nine are known to be alive at last follow-up. The presence and laterality/pathology of vestibular schwannoma at diagnosis and last follow-up was sought., Results: There were no cases of spontaneous MPNST with 2114 proven (n = 1150) and presumed benign (n = 964) vestibular schwannomas found. Two patients had developed MPNST (1 presumed) after having previously undergone stereotactic radiosurgery for a vestibular schwannoma., Conclusion: In this series, and from the literature, malignant transformation of a vestibular schwannoma was not a feature of NF2 in the unirradiated patient. NF2 patients should not be told that they have an increased risk of malignant change in a vestibular schwannoma unless they undergo radiation treatment. However, very much larger datasets are required before it can be determined whether there is any association between NF2 and MPNST in the unirradiated patient.

Introduction: Evidence is emerging for a significant clinical and neuroanatomical relationship between balance and anxiety. Research has suggested a potentially priming effect with anxiety symptoms predicting a worsening of balance function in patients with underlying balance dysfunction. We propose to show that a vestibular stimulus is responsible for an increase in state anxiety, and there is a relationship between increased state anxiety and worsening balance function., Aims: (1) To quantify state anxiety following a vestibular stimulus in patients with a chronic vestibular deficit. (2) To determine if state anxiety during a vestibular stimulus would correlate with the severity of chronic balance symptoms and handicap., Methods: Two separate cohorts of vestibular schwannoma (VS) patients underwent vestibular tests (electronystagmography, cervical and ocular vestibular evoked myogenic potentials, and caloric responses) and questionnaire assessments [vertigo handicap questionnaire (VHQ), vertigo symptom scale (VSS), and state-trait anxiety inventory (STAIY)]. Fifteen post-resection VS patients, with complete unilateral vestibular deafferentation, were assessed at a minimum of 6 months after surgery in Experiment 1 (Aim 1). Forty-five patients with VS in situ formed the cohort for Experiment 2 (Aim 2). Experiment 1: VS subjects (N = 15) with a complete post-resection unilateral vestibular deafferentation completed a state anxiety questionnaire before caloric assessment and again afterward with the point of maximal vertigo as the reference (Aim 1). Experiment 2: state anxiety measured at the point of maximal vertigo following a caloric assessment was compared between two groups of patients with VS in situ presenting with balance symptoms (Group 1, N = 26) and without balance symptoms (Group 2, N = 11) (Aim 2). The presence of balance symptoms was defined as having a positive score on the VSS-VER., Results: In Experiment 1, a significant difference (p < 0.01) was found when comparing STAIY at baseline and at the peak of the subjective vertiginous response in post-resection patients with a unilateral vestibular deafferentation. In Experiment 2, VS in situ patients with balance symptoms had significantly worse state anxiety at the peak vertiginous response than patients without balance symptoms (p < 0.001), as did patients with a balance-related handicap (p < 0.001)., Conclusion: Anxiety symptoms during a vestibular stimulus may contribute to a priming effect that could explain worsening balance function.

Background: Neurofibromatosis 2 (NF2) is an autosomal-dominant tumour predisposition syndrome characterised by bilateral vestibular schwannomas, considerable morbidity and reduced life expectancy. Although genotype-phenotype correlations are well established in NF2, little is known about effects of mutation type or location within the gene on mortality. Improvements in NF2 diagnosis and management have occurred, but their effect on patient survival is unknown., Methods: We evaluated clinical and molecular predictors of mortality in 1192 patients (771 with known causal mutations) identified through the UK National NF2 Registry. Kaplan-Meier survival and Cox regression analyses were used to evaluate predictors of mortality, with jackknife adjustment of parameter SEs to account for the strong intrafamilial phenotypic correlations that occur in NF2., Results: The study included 241 deaths during 10 995 patient-years of follow-up since diagnosis. Early age at diagnosis and the presence of intracranial meningiomas were associated with increased mortality, and having a mosaic, rather than non-mosaic, NF2 mutation was associated with reduced mortality. Patients with splice-site or missense mutations had lower mortality than patients with truncating mutations (OR 0.459, 95% CI 0.213 to 0.990, and OR 0.196, 95% CI 0.213 to 0.990, respectively). Patients with splice-site mutations in exons 6-15 had lower mortality than patients with splice-site mutations in exons 1-5 (OR 0.333, 95% CI 0.129 to 0.858). The mortality of patients with NF2 diagnosed in more recent decades was lower than that of patients diagnosed earlier., Conclusions: Continuing advances in molecular diagnosis, imaging and treatment of NF2-associated tumours offer hope for even better survival in the future., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)