Faculty Bibliography

The spectrum of germline predisposition in pediatric cancer continues to be realized. Here we report 751 solid tumor patients who underwent prospective matched tumor-normal DNA sequencing and downstream clinical use (clinicaltrials.gov NCT01775072). Germline pathogenic and likely pathogenic (P/LP) variants were reported. One or more P/LP variants were found in 18% (138/751) of individuals when including variants in low, moderate, and high penetrance dominant or recessive genes, or 13% (99/751) in moderate and high penetrance dominant genes. 34% of high or moderate penetrance variants were unexpected based on the patient's diagnosis and previous history. 76% of patients with positive results completed a clinical genetics visit, and 21% had at least one relative undergo cascade testing as a result of this testing. Clinical actionability additionally included screening, risk reduction in relatives, reproductive use, and use of targeted therapies. Germline testing should be considered for all children with cancer.

OBJECTIVES/HYPOTHESIS:To investigate the effect of a multimedia educational module on provider attitudes toward pediatric tracheostomy care. We also describe the process of module development and dissemination at an academic children's hospital. STUDY DESIGN:Prospective observational study. METHODS:The pediatric airway committee at an urban tertiary care center developed a multimedia pediatric tracheostomy care module. Nurses, respiratory therapists, as well as resident, fellow, and attending physicians caring for pediatric patients with tracheostomies were eligible. Managers and clinical supervisors from various units recruited participants to complete the pediatric tracheostomy care electronic module and pre- and postassessment knowledge quizzes and surveys. Provider confidence was analyzed using Kruskal-Wallis H-test and Mann-Whitney U-test, and paired t-test was used to compare pre- and postmodule quiz scores. RESULTS:A total of 422 participants completed the module. A total of 275 participants completed the premodule survey, 385 completed the premodule quiz, 253 completed the postmodule survey, and 233 completed the postmodule quiz. Participants included providers in the neonatal intensive care unit, pediatric intensive care unit, pediatric emergency department, and pediatric wards. Postmodule surveys demonstrated a significant reduction in the average percentage of participants indicating lack of confidence with regards to changing an established tracheostomy, responding to accidental decannulation of established tracheostomy, and responding to accidental decannulation of fresh tracheostomy (P < .001). Average quiz scores increased by 5.6 points from 83.0% to 88.6% (P < .00001). CONCLUSIONS:A multimedia educational module can improve provider perception of their knowledge and confidence surrounding pediatric tracheostomy management. LEVEL OF EVIDENCE:3 Laryngoscope, 131:1893-1901, 2021.

OBJECTIVES/HYPOTHESIS:The purpose of this study is to develop consensus on key points that would support the use of systemic bevacizumab for the treatment of recurrent respiratory papillomatosis (RRP), and to provide preliminary guidance surrounding the use of this treatment modality. STUDY DESIGN:Delphi method-based survey series. METHODS:A multidisciplinary, multi-institutional panel of physicians with experience using systemic bevacizumab for the treatment of RRP was established. The Delphi method was used to identify and obtain consensus on characteristics associated with systemic bevacizumab use across five domains: 1) patient characteristics; 2) disease characteristics; 3) treating center characteristics; 4) prior treatment characteristics; and 5) prior work-up. RESULTS:The international panel was composed of 70 experts from 12 countries, representing pediatric and adult otolaryngology, hematology/oncology, infectious diseases, pediatric surgery, family medicine, and epidemiology. A total of 189 items were identified, of which consensus was achieved on Patient Characteristics (9), Disease Characteristics (10), Treatment Center Characteristics (22), and Prior Workup Characteristics (18). CONCLUSION:This consensus statement provides a useful starting point for clinicians and centers hoping to offer systemic bevacizumab for RRP and may serve as a framework to assess the components of practices and centers currently using this therapy. We hope to provide a strategy to offer the treatment and also to provide a springboard for bevacizumab's use in combination with other RRP treatment protocols. Standardized delivery systems may facilitate research efforts and provide dosing regimens to help shape best-practice applications of systemic bevacizumab for patients with early-onset or less-severe disease phenotypes. LEVEL OF EVIDENCE:5 Laryngoscope, 131:E1941-E1949, 2021.

STUDY OBJECTIVES:Our objective was to determine the prevalence of elevated right ventricular pressure (RVP) as a surrogate marker for pulmonary hypertension in children with obstructive sleep apnea syndrome (OSAS) undergoing echocardiography. METHODS:This was a retrospective chart review of children ages 2-21 years diagnosed with OSAS by an overnight polysomnogram who underwent cardiac echocardiogram to screen for pulmonary hypertension within 6 months of polysomnogram in a tertiary inner-city pediatric hospital. The primary outcome was elevated RVP defined by estimated RVP ≥ 25 mm Hg above right atrial pressure or ventricular septal configuration consistent with elevated RVP. RESULTS:A total of 174 children were included. The median (interquartile range) age was 8.9 (5.5-13.1) years with 59.2% male, 41.4% Hispanic, and 25.9% non-Hispanic Black patients. The prevalence of obesity was 72.0% and severe or very severe OSAS was present in 93.1%. The median (interquartile range) apnea-hypopnea index was 28.3 events/h (18.8-52.7 events/h). Seven children (4.0%) had elevated RVP. There was no association between elevated RVP and age, sex, race, body mass index percentile, apnea-hypopnea index, oxygen nadir, or severe OSAS (apnea-hypopnea index ≥ 10 events/h). CONCLUSIONS:Elevated RVP was rare and was not associated with OSAS severity. The prevalence in this cohort is higher than the prevalence of pulmonary hypertension noted in similar studies (0%-1.8%), which may be related to differences in methodology or unassessed cohort characteristics. Further effort to determine the optimal role for pulmonary hypertension screening in pediatric OSAS is needed. CITATION:. 2021;17(11):2225-2232.

OBJECTIVES:While abducens nerve palsy (ANP) is a known risk in the setting of some endoscopic endonasal skull base surgery (ESBS), frequency and prognosis of post-operative palsy remain unknown. Our goals were to determine the frequency and prognosis of ANP after high-risk ESBS, and identify factors associated with recovery. METHODS:Retrospective case series of all patients with pathology at highest risk for abducens nerve injury (pituitary adenoma, chordoma, meningioma, chondrosarcoma, cholesterol granuloma) generated a list of patients with abducens nerve palsy after ESBS performed from 2011-2016. A validated ophthalmologic clinical grading scale measuring lateral rectus duction from 0 to -5 (full motion to inability to reach midline) was measured at multiple time points to assess recovery of ANP. RESULTS:Of 655 patients who underwent ESBS with increased risk of abducens injury, 40 (6.1%) post-operative palsies were identified and 39 patients with dedicated examination at multiple time points were included in subsequent analysis. Complete resolution was noted in 25 patients (64%) within 12 months. While 19 of 23 (83%) with a partial palsy had complete resolution, only six of 16 (38%) with a complete palsy resolved entirely (P = .005; Fisher's exact test). All six patients with delayed onset of palsy resolved (P = .070; Fisher's exact test). Meningioma and chordoma had higher rates of both temporary and permanent post-operative ANP (P < .0001; Fisher's exact). CONCLUSIONS:The frequency of post-operative ANP following ESBS is low, even in high-risk tumors. While only a minority of complete abducens nerve palsies recover, patients with partial or delayed palsy post-operatively are likely to recover function without intervention. LEVEL OF EVIDENCE:IV Laryngoscope, 131:513-517, 2021.

BACKGROUND/OBJECTIVES/OBJECTIVE:Primary cutaneous adenoid cystic carcinoma (PCACC) is a rare skin tumor. The head and neck (H&N) is the most common anatomical location. Due to limited published cases, its clinical course and management are not well understood. METHODS:The National Cancer Database (NCDB) was queried for all cases of H&N PCACC diagnosed from 2004 to 2016. Kaplan-Meier (KM) and Cox proportional hazards models were used to determine clinicopathological and treatment factors associated with survival outcomes. RESULTS: = .01). CONCLUSION/CONCLUSIONS:This study represents the largest cohort of H&N PCACC studied to date and provides important clinicopathologic information for this rare tumor. Additionally, our results emphasize the importance of health insurance as an independent predictor of survival in PCACC.

OBJECTIVE:To review current literature describing the management of temporomandibular disorder (TMD) and to propose an evidence-based algorithm for otolaryngologists. DATA SOURCES/METHODS:A literature review using PubMed and Scopus was conducted to identify manuscripts that describe TMJ disorder etiology, diagnostic methods, and management across the fields of otolaryngology, general practice medicine, physical therapy, dentistry, and maxillofacial surgery. REVIEW METHODS/METHODS:Two reviewers subjectively evaluated the studies based on the inclusion criteria, incorporating them into a comprehensive algorithm. CONCLUSIONS:TMD is one of the most common conditions presenting to otolaryngology outpatient clinics. Etiologies of TMD vary widely, including myofascial, intraarticular, neurologic, traumatic, or psychiatric in origin. When conservative measures fail to produce symptom relief, alternative treatments and referral to outside specialists including psychiatry, physical therapy, dentistry, and maxillofacial surgery may be indicated. Premature or inappropriate referrals may lead to patients suffering TMD for extended periods of time, with alternating referrals between various specialists. Thus, we present a TMD treatment algorithm for otolaryngologists to aid in the decision-making process in managing TMD. IMPLICATIONS FOR PRACTICE/CONCLUSIONS:Patients frequently present to otolaryngology outpatient clinics for symptoms of TMD. Multidisciplinary practice may be necessary to effectively treat TMD of varying etiology and severity. Following conservative treatment, appropriate referrals and treatment plans will reduce ineffective use of resources, deferral of treatment, and patient suffering. For this reason, a comprehensive algorithm for otolaryngologists will improve resource utilization and efficiency of treatment to ultimately provide improved treatment outcomes for patients.

Anxiety and eating disorders (EDs) often co-occur, prompting calls to explore anxiety-related maintenance processes in ED samples. Safety behaviors, which function to prevent a feared outcome from occurring or to reduce anxiety associated with a feared stimulus, are observed across anxiety disorders and, along with overt avoidance behaviors, are an important target in treatment. Data suggest that individuals with EDs also engage in safety behaviors. However, no existing assessments provide a comprehensive measure of eating-disorder-specific overt avoidance and safety behaviors. The goal of this Stage 1 Registered Report is to develop a comprehensive self-report measure of ED-specific safety behaviors. In Study 1, we will recruit 50 women with EDs to complete the scale and provide feedback on the response scale. Feedback from these participants will be used to refine the measure. In Study 2, we will evaluate the psychometric properties of the measure in a large sample of women with EDs (n dependent on the size of measurement) and a community sample without current or a history of ED symptoms. We will explore the measure factor structure, known-groups validity by comparing scores from women with EDs to healthy controls, internal consistency, and convergent and divergent validity with other psychological instruments.