Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.

PURPOSE: PIK3CA-related overgrowth spectrum (PROS) conditions of the head and neck are treatment challenges. Traditionally, these conditions require multiple invasive interventions, with incomplete malformation removal, disfigurement, and possible dysfunction. Use of the PI3K inhibitor alpelisib, previously shown to be effective in PROS, has not been reported in PIK3CA-associated head and neck lymphatic malformations (HNLMs) or facial infiltrating lipomatosis (FIL). We describe prospective treatment of 5 children with PIK3CA-associated HNLMs or head and neck FIL with alpelisib monotherapy. METHODS: A total of 5 children with PIK3CA-associated HNLMs (n = 4) or FIL (n = 1) received alpelisib monotherapy (aged 2-12 years). Treatment response was determined by parental report, clinical evaluation, diary/questionnaire, and standardized clinical photography, measuring facial volume through 3-dimensional photos and magnetic resonance imaging. RESULTS: All participants had reduction in the size of lesion, and all had improvement or resolution of malformation inflammation/pain/bleeding. Common invasive therapy was avoided (ie, tracheotomy). After 6 or more months of alpelisib therapy, facial volume was reduced (range 1%-20%) and magnetic resonance imaging anomaly volume (range 0%-23%) were reduced, and there was improvement in swallowing, upper airway patency, and speech clarity. CONCLUSION: Individuals with head and neck PROS treated with alpelisib had decreased malformation size and locoregional overgrowth, improved function and symptoms, and fewer invasive procedures.

Endoscopic management of intralingual thyroglossal duct cysts: Case series and systematic review.

OBJECTIVE: To discuss our institutional experience with endoscopic management of intralingual thyroglossal duct cyst (TGDC) and review cases in the published literature in a systematic review. METHODS: Pediatric patients with intralingual TGDC treated with endoscopic surgery at our institution from 2009-2019 were identified. Metrics from our case series were then compared to those in the literature in a systematic review to assess pooled outcomes of endoscopic or transoral management. Patient demographics, age of presentation, presenting symptomatology, size of cyst on imaging, type of surgery, and post-operative outcomes were assessed. RESULTS: We identified 5 institutional cases of intralingual TGDC and 48 cases of intralingual TGDC described in the literature. The average age of presentation was 20.36 months. 69.8% (N=37) of patients presented with at least one respiratory symptom, 22.6% (N=12) presented with dysphagia, 9.4% (N=5) presented with an identified mass in the oropharynx, and 15.1% (N=8) had the cyst discovered as an incidental finding. Three patients required revision surgeries due to prior incomplete TGDC excisions and one patient experienced a recurrence >6 months after primary excision requiring a second procedure. Our data pooled with published case series in systematic review confirms that endoscopic or transoral management are excellent options for definitive management of intralingual TGDC. CONCLUSIONS: Intralingual TDGC is a potentially life-threatening variant of TGDC. Our results pooled with published series in a systematic review suggest that endoscopic or transoral management of intralingual TGDC are excellent minimally invasive treatments with a low risk of recurrence. Postoperative surveillance up to one year is recommended.

Consultations for Foreign Bodies in Aerodigestive Tract: Assessment of Diagnostic Modalities.

OBJECTIVE: To evaluate test characteristics of various diagnostic modalities in the workup of foreign body (FB) sensation in the aerodigestive tract. METHODS: Database containing all inpatient otolaryngology consultations between 2008 and 2020 was used. Cases of FB sensation were identified by documented encounter diagnosis or hospital problem of FB or globus sensation. Variables including basic patient demographics, clinical presentations, diagnostic imaging modalities, procedures, and outpatient follow-up were collected. RESULTS: One hundred and six patients were included in the study. A FB was visualized in 55 patients (52%) and removed in 52 patients (49%); 3 patients had a FB that was visualized initially but not found in the operating room. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were found to be 41%, 50%, 58%, and 33%, respectively, for X-ray (XR); 91%, 61%, 70%, and 87%, respectively, for computed tomography (CT). Sensitivity and NPV were 25% and 57%, respectively, for flexible fiberoptic laryngoscopy (FFL). Seventy-one of 106 patients (67%) underwent invasive interventions during their workup for FBs. Ten out of 11 (91%) chicken bones were found in the digestive tract compared to 7 out of 19 (37%) fishbones (p = 0.0046). CONCLUSION: In patients with history of FB ingestion, CT may be more beneficial than XR as a screening tool for locating foreign bodies and guiding further management. FFL alone is inadequate for ruling out a FB in the aerodigestive tract given FB's high likelihood of being in the esophagus or buried in soft tissue or mucosa. LEVEL OF EVIDENCE: 3 Laryngoscope, 133:1361-1366, 2023.

Myosin Mutations and Sudden Sensorineural Hearing Loss: Results of Whole Exome Sequencing.

OBJECTIVE: Idiopathic sudden sensorineural hearing loss (ISSNHL) affects 66,000 patients per year in the United States. Genetic mutations have been associated with progressive hearing loss; however, genetic mutations associated with ISSNHL have not been identified. METHODS: A prospective cohort study of adults older than 18 years presenting with ISSNHL at a tertiary academic medical center. Whole exome sequencing (WES) was conducted using Genome Analysis Toolkit best practices. An automated diagnostic screen employing a variety of models for pathogenicity was conducted across all genes with no specific targets. Candidate pathogenic variants were reviewed by a team of geneticists and clinicians. Variants were crossed-referenced with 92 known hearing loss associated genes. RESULTS: Twenty-nine patients with SSNHL were screened using WES. The average age of patients was 53 ± 17.1 years, and most patients were White (62%) and men (55%). The mean pure tone average was 64.8 ± 31.3 dB for the affected ear. Using a 0.1% allele frequency screen, 12 (41%) cases had a mutation in any of the nine selected myosin genes. When we restrict to singletons (allele frequency = 0%), 21% (n = 6) of cases have qualifying variants, whereas only 3.8% (n = 481) of 12,577 healthy controls carry qualifying variants (p < 0.01). Most mutations (80%) were missense mutations. Of the novel mutations, one was a frameshift mutation, and two were a stop-gained function. Three were missense mutations. CONCLUSION: Myosin mutations may be associated with ISSNHL. However, larger population screening is needed to confirm the association of myosin mutation with ISSNHL and steroid responsiveness.

Thinking Beyond the Temporal Bone Lab: A Systematic Process for Expanding Surgical Simulation in Otolaryngology Training.

The COVID-19 pandemic led to a temporary lapse in the development of otolaryngology trainee operative skills due to the cancellation of elective procedures and redeployment of trainees and attendings to COVID-19 units. Although transient, this disruption provided an opportunity for otolaryngology programs to develop contingency plans and formalize nascent simulation training curricula. Integration of formal simulation training alongside current didactic and surgical education may offset lost exposure during surgically lean times while providing the framework and resources for enhanced baseline training. Here, we provide an up-to-date overview of surgical simulation models in otolaryngology and identify easily implementable, low-cost, low fidelity models for junior trainees. By taking advantage of rapid advancements in technology and a paradigm shift to a more hands-on approach in medical education, formal simulation training may prove to be a beneficial tool at all stages of residency training, allowing for expanded peer-mentored skill development and providing a safe haven during unforeseen disruptions in surgical case volume.

Comparison of Cochlear Implant Device Fixation-Well Drilling Versus Subperiosteal Pocket. A Cost Effectiveness, Case-Control Study.

OBJECTIVE: To compare surgical characteristics and complications between well drilling (WD) and subperiosteal pocket techniques (SPT) for receiver/stimulator (R/S) fixation of cochlear implant (CI), and conduct cost-effectiveness analysis. STUDY DESIGN: Retrospective clinical study, decision-analysis model. SETTING: Tertiary referral center. PATIENTS: Three-hundred and eighty-eight CI recipients with a minimum of 6-months follow-up. INTERVENTIONS: CI surgery using either WD or SPT for R/S fixation. A decision-analysis model was designed using data from a systematic literature review. MAIN OUTCOME MEASURES: Surgical operation time, rates of major and minor long-term complications were compared. Incremental cost-effectiveness was also estimated, comparing the two methods of fixation. RESULTS: We compared 179 WD with 209 SPT. Surgery time was significantly shorter in SPT (148 versus 169 min, p = 0.001) and remained significant after adjustment for possible confounders. Higher rates of major complications requiring surgical intervention were found with SPT (10.5% versus 4.5%, p = 0.042), however, the difference was not significant after adjusting for follow-up time (47.8 versus 32.5 months for SPT, WD respectively; p < 0.001). The incremental cost-effectiveness ratio for WD (compared with SPT) was $48,795 per major complication avoided, which was higher than the willingness-to-pay threshold of $47,700 (average cost of 2 h revision surgery). CONCLUSIONS: SPT was found to be faster but potentially risks more complications, particularly relating to device failure. Further long-term studies are required to validate these differences. Based on data from the current literature, neither of the methods is compellingly cost-effective over the other, and surgeons can base their choice on personal preference, comfort, and previous training.

Educational Value of Endoscopic Versus Microscopic Ear Surgery.

OBJECTIVE: To compare the educational value of endoscopic ear surgery versus microscopic ear surgery among medical students. METHODS: Medical students anonymously completed a cross-sectional survey immediately after observing endoscopic or microscopic ear surgery. A Likert scale (1 = worst, 5 = best) was used to analyze variables across 3 domains including: (1) area of interest visibility, (2) optical quality, (3) education and understanding. The Mann-Whitney U-test and multivariable linear regression were used to compare mean scores of individual items and domain means between endoscopic and microscopic groups. RESULTS: Forty-four surveys were analyzed (20 endoscopic and 24 microscopic ear surgeries). Across domains, the endoscope was superior to the microscope (adjusted P < .05) for visibility of the area of interest (mean ± SD: 4.74 ± 0.26 vs 4.28 ± 0.50), optical quality (4.78 ± 0.38 vs 4.28 ± 0.64), and education and understanding (4.70 ± 0.47 vs 4.13 ± 0.61). In multivariable linear regression, the mean domain score for visibility of the area of interest was 1.23 (95% CI = 0.56, 1.90; adjusted P < .01) points higher for the endoscopic group, compared to the microscopic group, adjusting for surgeon, procedure, and student type. The mean domain score for education and understanding was 1.19 (95% CI = 0.49. 1.90; adjusted P < 0.01) points higher for the endoscopic group, compared to the microscopic group, adjusting for the same confounders. CONCLUSIONS: Among medical students, endoscopic ear surgery was superior to microscopic ear surgery for several visual quality indicators and perceived educational benefit. These findings have implications for medical student education and surgical training.

Trends in hearing rehabilitation use among vestibular schwannoma patients.

OBJECTIVE: Most patients with vestibular schwannoma (VS) have significant hearing loss in the affected ear as a result of either their tumor or treatment. There is a paucity of data on which hearing rehabilitation options, if any, are preferred by patients with VS. Our study analyzed the use of hearing rehabilitation devices among VS patients. METHODS: Patients with unilateral VS treated at our institution from January 2008 to August 2018 were identified. Those with bilateral VS, profound hearing loss in the contralateral ear, neurofibromatosis type 2, or inadequate follow-up were excluded. Patients who met inclusion criteria were given two online questionnaires: an 8-item instrument that assesses use of hearing rehabilitation devices and the Abbreviated Profile of Hearing Aid Benefit. RESULTS: Of 212 eligible patients, 61 completed both surveys. The majority (88%) were able to hear "poorly" or "not at all" in the affected ear, but less than one-third had ever used a hearing rehabilitation device. Most had used conventional hearing aids (30%) or contralateral routing of signal/bilateral contralateral routing of signal (30%), whereas only a handful had used bone-anchored hearing devices or cochlear implant. Patients who did not pursue hearing rehabilitation were either not bothered by their deficit or were unaware of their options. Most had good functionality despite their deficit. CONCLUSION: Whereas 88% of patients treated for VS had a significant hearing loss, the majority did not pursue hearing rehabilitation but maintained good functional performance. Many did not remember being counseled about hearing rehabilitation options, indicating that regular and repeated counseling may be needed to increase patient utilization of hearing rehabilitation after VS treatment. LEVEL OF EVIDENCE: 4 Laryngoscope, 130:1558-1564, 2020.

Rapid recurrent sialolithiasis: Altered stone composition and potential factors for recurrence.

The objective of this report was to identify potential factors associated with recurrent sialolithiasis after surgical intervention. This is a report of a woman with recurrent submandibular sialolithiasis after surgical intervention. Several characteristics of this patient indicate that she may have been predisposed to recurrent stone formation. Patient and disease factors leading to recurrent salivary stone formation are not well known. Notwithstanding, there may be stone factors and intraoperative findings that aid in determining whether a patient is likely to be successfully treated with a gland-sparing approach. Laryngoscope, 127:1365-1368, 2017.

Evaluation of Monitored Anesthesia Care in Sialendoscopy.

Importance: In the United States, sialendoscopy is most often performed under general anesthesia with endotracheal intubation (GETA); however, monitored anesthesia care (MAC) may be a viable alternative. Objective: To investigate patient characteristics and outcomes following sialendoscopy performed under MAC or GETA to assess the potential of MAC as an alternative anesthetic option. Design, Setting, and Participants: A retrospective review of medical records on patients who underwent sialendoscopy between October 1, 2011, and August 31, 2014, was performed. Patient characteristics, salivary stone characteristics, intraoperative findings, operative time (OT), anesthesia time (AT), and outcomes were evaluated. Data analysis was performed from November 1, 2015, to March 1, 2016. Main Outcomes and Measures: Operative and anesthetic times for sialendoscopy under MAC and GETA. Results: Sixty-five patients underwent 70 sialendoscopy procedures: 27 performed under MAC, 43 under GETA. Overall, 37 of 65 (56.9%) patients were women, with 17 (63.0%) in the MAC group and 20 (52.6%) in the GETA group. Mean (SD) patient age was 49.4 (17.3) and 47.2 (16.2) years for the MAC and GETA cohorts, respectively. Median (25th-75th quartiles) OT in minutes for MAC cases was significant for no stones (49.0 [31.0-49.0]) and stones (41.0 [28.0-92.0]) present; nonsignificant findings were stones in the Wharton (46.0 [28.0-92.0]) and Stenson (37.0; 1 case) ducts. For GETA cases, significance was also demonstrated for no stones (55.0 [52.0-91.0]) and stones (77.0 [56.0-107.0]) present; nonsignificant findings were stones in the Wharton (79.0 [56.0-107.0]) and Stenson (65.0 [49.0-98.0]) ducts. The AT in minutes for MAC cases was significant for no stones (33.0 [30.0-39.0]) and stones (38.0 [32.0-55.0]) present; nonsignificant findings were stones in the Wharton (60.0 [32.0-55.0]) and Stenson (37.0; 1 case) ducts. For GETA cases, findings were also significant for no stones (61.0 [52.0-67.0]) and stones (59.0 [53.0-67.0]) present; nonsignificant findings were stones in the Wharton (60.0 [54.0-69.0]) and Stenson (52.0 [48.0-61.0]) ducts. Conclusions and Relevance: This study suggests that sialendoscopy under MAC has faster median OT and AT, regardless of varying case circumstances, such as the presence or lack of stones, successful stone removal, stone size (>5 mm), stone location, and sialendoscopy-assisted open procedures. Sialendoscopy under MAC may be a reasonable anesthetic alternative to GETA in an appropriate setting with an experienced surgeon, experienced anesthesiologist comfortable with administering MAC, cases with small (<4-mm) singular stones, and patients comfortable with undergoing the procedure without GETA.