Prevalence of Childhood Hearing Loss in Rural Alaska.

OBJECTIVES: Childhood hearing loss has well-known lifelong consequences. Certain rural populations are at higher risk for infection-related hearing loss. For Alaska Native children, historical data on hearing loss prevalence suggest a higher burden of infection-related hearing loss, but updated prevalence data are urgently needed in this high-risk population. DESIGN: Hearing data were collected as part of two school-based cluster-randomized trials in 15 communities in rural northwest Alaska over two academic years (2017-2019). All enrolled children from preschool to 12th grade were eligible. Pure-tone thresholds were obtained using standard audiometry and conditioned play when indicated. The analysis included the first available audiometric assessment for each child (n = 1634 participants, 3 to 21 years), except for the high-frequency analysis, which was limited to year 2 when higher frequencies were collected. Multiple imputation was used to quantify the prevalence of hearing loss in younger children, where missing data were more frequent due to the need for behavioral responses. Hearing loss in either ear was evaluated using both the former World Health Organization (WHO) definition (pure-tone average [PTA] > 25 dB) and the new WHO definition (PTA ≥ 20 dB), which was published after the study. Analyses with the new definition were limited to children 7 years and older due to incomplete data obtained on younger children at lower thresholds. RESULTS: The overall prevalence of hearing loss (PTA > 25 dB; 0.5, 1, 2, 4 kHz) was 10.5% (95% confidence interval [CI], 8.9 to 12.1). Hearing loss was predominately mild (PTA >25 to 40 dB; 8.9%, 95% CI, 7.4 to 10.5). The prevalence of unilateral hearing loss was 7.7% (95% CI, 6.3 to 9.0). Conductive hearing loss (air-bone gap of ≥ 10 dB) was the most common hearing loss type (9.1%, 95% CI, 7.6 to 10.7). Stratified by age, hearing loss (PTA >25 dB) was more common in children 3 to 6 years (14.9%, 95% CI, 11.4 to 18.5) compared to children 7 years and older (8.7%, 95% CI, 7.1 to 10.4). In children 7 years and older, the new WHO definition increased the prevalence of hearing loss to 23.4% (95% CI, 21.0 to 25.8) compared to the former definition (8.7%, 95% CI, 7.1 to 10.4). Middle ear disease prevalence was 17.6% (95% CI, 15.7 to 19.4) and was higher in younger children (23.6%, 95% CI, 19.7 to 27.6) compared to older children (15.2%, 95% CI, 13.2 to 17.3). High-frequency hearing loss (4, 6, 8kHz) was present in 20.5% (95% CI, 18.4 to 22.7 [PTA >25 dB]) of all children and 22.8% (95% CI, 20.3 to 25.3 [PTA >25 dB]) and 29.7% (95% CI, 27.0 to 32.4 [PTA ≥ 20 dB]) of children 7 years and older (limited to year 2). CONCLUSIONS: This analysis represents the first prevalence study on childhood hearing loss in Alaska in over 60 years and is the largest cohort with hearing data ever collected in rural Alaska. Our results highlight that hearing loss continues to be common in rural Alaska Native children, with middle ear disease more prevalent in younger children and high-frequency hearing loss more prevalent with increasing age. Prevention efforts may benefit from managing hearing loss type by age. Lastly, continued research is needed on the impact of the new WHO definition of hearing loss on field studies.

Telemedicine Referral to Improve Access to Specialty Care for Preschool Children in Rural Alaska: A Cluster-Randomized Controlled Trial.

OBJECTIVES: Preschool programs provide essential preventive services, such as hearing screening, but in rural regions, limited access to specialists and loss to follow-up compound rural health disparities. We conducted a parallel-arm cluster-randomized controlled trial to evaluate telemedicine specialty referral for preschool hearing screening. The goal of this trial was to improve timely identification and treatment of early childhood infection-related hearing loss, a preventable condition with lifelong implications. We hypothesized that telemedicine specialty referral would improve time to follow-up and the number of children receiving follow-up compared with the standard primary care referral. DESIGN: We conducted a cluster-randomized controlled trial in K-12 schools in 15 communities over two academic years. Community randomization occurred within four strata using location and school size. In the second academic year (2018-2019), an ancillary trial was performed in the 14 communities that had preschools to compare telemedicine specialty referral (intervention) to standard primary care referral (comparison) for preschool hearing screening. Randomization of communities from the main trial was used for this ancillary trial. All children enrolled in preschool were eligible. Masking was not possible because of timing in the second year of the main trial, but referral assignment was not openly disclosed. Study team members and school staff were masked throughout data collection, and statisticians were blinded to allocation during analysis. Preschool screening occurred once, and children who were referred for possible hearing loss or ear disease were monitored for follow-up for 9 months from the screening date. The primary outcome was time to ear/hearing-related follow-up from the date of screening. The secondary outcome was any ear/hearing follow-up from screening to 9 months. Analyses were conducted using an intention-to-treat approach. RESULTS: A total of 153 children were screened between September 2018 and March 2019. Of the 14 communities, 8 were assigned to the telemedicine specialty referral pathway (90 children), and 6 to the standard primary care referral pathway (63 children). Seventy-one children (46.4%) were referred for follow-up: 39 (43.3%) in the telemedicine specialty referral communities and 32 (50.8%) in the standard primary care referral communities. Of children referred, 30 (76.9%) children in telemedicine specialty referral communities and 16 (50.0%) children in standard primary care referral communities received follow-up within 9 months (Risk Ratio = 1.57; 95% confidence interval [CI], 1.22 to 2.01). Among children who received follow-up, median time to follow-up was 28 days (interquartile range [IQR]: 15 to 71) in telemedicine specialty referral communities compared with 85 days (IQR: 26 to 129) in standard primary care referral communities. Mean time to follow-up for all referred children was 4.5 (event time ratio = 4.5; 95% CI, 1.8 to 11.4; p = 0.045) times faster in telemedicine specialty referral communities compared with standard primary care referral communities in the 9-month follow-up time frame. CONCLUSIONS: Telemedicine specialty referral significantly improved follow-up and reduced time to follow-up after preschool hearing screening in rural Alaska. Telemedicine referrals could extend to other preventive school-based services to improve access to specialty care for rural preschool children.

Hearing-related quality of life in children and adolescents in rural Alaska.

Objective: This study evaluated the Hearing Environments and Reflection on Quality of Life (HEAR-QL) questionnaire in rural Alaska, including an addendum crafted through community feedback to reflect the local context. The objectives were to assess whether HEAR-QL score was inversely correlated with hearing loss and middle ear disease in an Alaska Native population. Methods: The HEAR-QL questionnaires for children and adolescents were administered as part of a cluster randomized trial in rural Alaska from 2017 to 2019. Enrolled students completed an audiometric evaluation and HEAR-QL questionnaire on the same day. A cross-sectional evaluation of questionnaire data was utilized. Results: A total of 733 children (ages 7-12 years) and 440 adolescents (ages ≥13 years) completed the questionnaire. Median HEAR-QL scores were similar among children with and without hearing loss (Kruskal-Wallis, p = .39); however, adolescent HEAR-QL scores significantly decreased with increasing hearing loss (p < .001). Median HEAR-QL scores were significantly lower in both children (p = .02) and adolescents (p < .001) with middle ear disease compared with those without. In both children and adolescents, the addendum scores were strongly correlated with total HEAR-QL score (ρSpearman = 0.72 and 0.69, respectively). Conclusions: The expected negative association between hearing loss and HEAR-QL score was observed in adolescents. However, there was significant variability that could not be explained by hearing loss, and further investigation is warranted. The expected negative association was not observed in children. HEAR-QL scores were associated with middle ear disease in both children and adolescents, making it potentially valuable in populations where the prevalence of ear infections is high. Level of Evidence: Level 2 Clinicaltrials.gov registration numbers: NCT03309553.

Hearing health care access for adult cochlear implant candidates and recipients: Travel time and socioeconomic status.

Objectives: Access to cochlear implantation may be negatively influenced by extended travel time to a cochlear implant (CI) center or lower socioeconomic status (SES) for the individual. There is a critical need to understand the influence of these variables on patient appointment attendance for candidacy evaluations, and CI recipients' adherence to post-activation follow-up recommendations that support optimal outcomes. Methods: A retrospective chart review of adult patients referred to a CI center in North Carolina for initial cochlear implantation candidacy evaluation between April 2017 and July 2019 was conducted. Demographic and audiologic data were collected for each patient. Travel time was determined using geocoding. SES was proxied using ZCTA-level Social Deprivation Index (SDI) information. Independent samples t tests compared variables between those who did and did not attend the candidacy evaluation. Pearson correlations assessed the association of these variables and the duration of time between initial CI activation and return for first follow-up visit. Results: Three hundred and ninety patients met the inclusion criteria. There was a statistically significant difference between SDI of those who attended their candidacy evaluation versus those who did not. Age at referral or travel time did not show statistical significance between these two groups. There was no significant correlation with age at referral, travel time, or SDI with the duration of time (days) between initial activation and the 1-month follow-up. Conclusions: Our findings suggest that SES may influence a patient's ability to attend a cochlear implantation candidacy evaluation appointment and may further impact the decision to pursue cochlear implantation.Level of evidence: 4 - Case Series.

Environmental Factors for Hearing Loss and Middle Ear Disease in Alaska Native Children and Adolescents: A Cross-Sectional Analysis from a Cluster Randomized Trial.

OBJECTIVES: Infection-related childhood hearing loss is one of the few preventable chronic health conditions that can affect a child's lifelong trajectory. This study sought to quantify relationships between infection-mediated hearing loss and middle ear disease and environmental factors, such as exposure to wood smoke, cigarette smoke, household crowding, and lack of access to plumbed (running) water, in a northwest region of rural Alaska. DESIGN: This study is a cross-sectional analysis to estimate environmental factors of infection-related hearing loss in children aged 3 to 21 years. School hearing screenings were performed as part of two cluster randomized trials in rural Alaska over two academic years (2017-2018 and 2018-2019). The first available screening for each child was used for this analysis. Sociodemographic questionnaires were completed by parents/guardians upon entry into the study. Multivariable regression was performed to estimate prevalence differences and prevalence ratios (PR). A priori knowledge about the prevalence of middle ear disease and the difficulty inherent in obtaining objective hearing loss data in younger children led to analysis of children by age (3 to 6 years versus 7 years and older) and a separate multiple imputation sensitivity analysis for pure-tone average (PTA)-based infection-related hearing loss measures. RESULTS: A total of 1634 children participated. Hearing loss was present in 11.1% of children sampled based on otoacoustic emission as the primary indicator of hearing loss and was not associated with exposure to cigarette smoke (PR = 1.07; 95% confidence interval [CI], 0.48 to 2.38), use of a wood-burning stove (PR = 0.85; 95% CI, 0.55 to 1.32), number of persons living in the household (PR = 1.06; 95% CI, 0.97 to 1.16), or lack of access to running water (PR = 1.38; 95% CI, 0.80 to 2.39). Using PTA as a secondary indicator of hearing loss also showed no association with environmental factors. Middle ear disease was present in 17.4% of children. There was a higher prevalence of middle ear disease in homes without running water versus those with access to running water (PR = 1.53; 95% CI, 1.03 to 2.27). There was little evidence to support any cumulative effects of environmental factors. Heterogeneity of effect models by age found sample prevalence of hearing loss higher for children aged 3 to 6 years (12.2%; 95% CI, 9.3 to 15.7) compared to children 7 years and older (10.6%; 95% CI, 8.9 to 2.6), as well as for sample prevalence of middle ear disease (22.7%; 95% CI, 18.9 to 26.9 and 15.3%; 95% CI, 13.3 to 17.5, respectively). CONCLUSIONS: Lack of access to running water in the home was associated with increased prevalence of middle ear disease in this rural, Alaska Native population, particularly among younger children (aged 3 to 6 years). There was little evidence in this study that cigarette smoke, wood-burning stoves, and greater numbers of persons in the household were associated with infection-mediated hearing loss or middle ear disease. Future research with larger sample sizes and more sensitive measures of environmental exposure is necessary to further evaluate these relationships. Children who live in homes without access to running water may benefit from earlier and more frequent hearing health visits.

Screening for Obstructive Sleep Apnea in Adults: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.

Importance: Obstructive sleep apnea (OSA) is associated with adverse health outcomes. Objective: To review the evidence on screening for OSA in asymptomatic adults or those with unrecognized OSA symptoms to inform the US Preventive Services Task Force. Data Sources: PubMed/MEDLINE, Cochrane Library, Embase, and trial registries through August 23, 2021; surveillance through September 23, 2022. Study Selection: English-language studies of screening test accuracy, randomized clinical trials (RCTs) of screening or treatment of OSA reporting health outcomes or harms, and systematic reviews of treatment reporting changes in blood pressure and apnea-hypopnea index (AHI) scores. Data Extraction and Synthesis: Dual review of abstracts, full-text articles, and study quality. Meta-analysis of intervention trials. Main Outcomes and Measures: Test accuracy, excessive daytime sleepiness, sleep-related and general health-related quality of life (QOL), and harms. Results: Eighty-six studies were included (N = 11 051). No study directly compared screening with no screening. Screening accuracy of the Multivariable Apnea Prediction score followed by unattended home sleep testing for detecting severe OSA syndrome (AHI ≥30 and Epworth Sleepiness Scale [ESS] score >10) measured as the area under the curve in 2 studies (n = 702) was 0.80 (95% CI, 0.78 to 0.82) and 0.83 (95% CI, 0.77 to 0.90). Five studies assessing the accuracy of other screening tools were heterogeneous and results were inconsistent. Compared with inactive control, positive airway pressure was associated with a significant improvement in ESS score from baseline (pooled mean difference, -2.33 [95% CI, -2.75 to -1.90]; 47 trials; n = 7024), sleep-related QOL (standardized mean difference, 0.30 [95% CI, 0.19 to 0.42]; 17 trials; n = 3083), and general health-related QOL measured by the 36-Item Short Form Health Survey (SF-36) mental health component summary score change (pooled mean difference, 2.20 [95% CI, 0.95 to 3.44]; 15 trials; n = 2345) and SF-36 physical health component summary score change (pooled mean difference, 1.53 [95% CI, 0.29 to 2.77]; 13 trials; n = 2031). Use of mandibular advancement devices was also associated with a significantly larger ESS score change compared with controls (pooled mean difference, -1.67 [95% CI, 2.09 to -1.25]; 10 trials; n = 1540). Reporting of other health outcomes was sparse; no included trial found significant benefit associated with treatment on mortality, cardiovascular events, or motor vehicle crashes. In 3 systematic reviews, positive airway pressure was significantly associated with reduced blood pressure; however, the difference was relatively small (2-3 mm Hg). Conclusions and Relevance: The accuracy and clinical utility of OSA screening tools that could be used in primary care settings were uncertain. Positive airway pressure and mandibular advancement devices reduced ESS score. Trials of positive airway pressure found modest improvement in sleep-related and general health-related QOL but have not established whether treatment reduces mortality or improves most other health outcomes.

Mobile health school screening and telemedicine referral to improve access to specialty care in rural Alaska: a cluster- randomised controlled trial.

BACKGROUND: School-based programmes, including hearing screening, provide essential preventive services for rural children. However, minimal evidence on screening methodologies, loss to follow-up, and scarcity of specialists for subsequent care compound rural health disparities. We hypothesised telemedicine specialty referral would improve time to follow-up for school hearing screening compared with standard primary care referral. METHODS: In this cluster-randomised controlled trial conducted in 15 rural Alaskan communities, USA, we randomised communities to telemedicine specialty referral (intervention) or standard primary care referral (control) for school hearing screening. All children (K-12; aged 4-21 years) enrolled in Bering Straight School District were eligible. Community randomisation occurred within four strata using location and school size. Participants were masked to group allocation until screening day, and assessors were masked throughout data collection. Screening occurred annually, and children who screened positive for possible hearing loss or ear disease were monitored for 9 months from the screening date for follow-up. Primary outcome was the time to follow-up after a positive hearing screen; analysis was by intention to treat. The trial was registered with ClinicalTrials.gov, NCT03309553. FINDINGS: We recruited participants between Oct 10, 2017, and March 28, 2019. 15 communities were randomised: eight (750 children) to telemedicine referral and seven (731 children) to primary care referral. 790 (53·3%) of 1481 children screened positive in at least one study year: 391 (52∤1%) in the telemedicine referral communities and 399 (50∤4%) in the primary care referral communities. Of children referred, 268 (68·5%) in the telemedicine referral communities and 128 (32·1%) in primary care referral communities received follow-up within 9 months. Among children who received follow-up, mean time to follow-up was 41·5 days (SD 55·7) in the telemedicine referral communities and 92·0 days (75·8) in the primary care referral communities (adjusted event-time ratio 17·6 [95% CI 6·8-45·3] for all referred children). There were no adverse events. INTERPRETATION: Telemedicine specialty referral significantly improved the time to follow-up after hearing screening in Alaska. Telemedicine might apply to other preventive school-based services to improve access to specialty care for rural children. FUNDING: Patient-Centered Outcomes Research Institute.

A Case-Case Analysis of Intralabyrinthine Schwannoma Versus Intracanalicular Vestibular Schwannoma.

OBJECTIVES: Determine the differences in presentation of intracanalicular and intralabyrinthine schwannomas. STUDY DESIGN: Retrospective chart review at a single center. SETTING: Tertiary academic referral center. PATIENTS: Eighteen subjects with an intralabyrinthine schwannoma (ILS) and 216 patients with an intracanalicular vestibular schwannoma (VS). MAIN OUTCOME MEASURES: Variables collected included age at diagnosis, gender, presenting signs and symptoms, imaging findings, treatment modality, pure-tone average (PTA), and word recognition scores (WRS) at presentation and at follow-up visits. RESULTS: Incidence of subjective hearing loss was 100% in the ILS group and 80.6% in the intracanalicular VS group. The degree of hearing loss was significantly worse in the ILS group (average PTA of 83.9 dB; average WRS of 46.9%) compared with the VS group (average PTA of 38.7 dB; average WRS of 71.8%) (PTA p = 0.000006; WRS p = 0.007). Other subjective signs and symptoms, including vestibular symptoms, did not differ significantly between the two groups. Approximately one-third of both groups underwent microsurgical resection. 22.2% of ILSs were missed on initial imaging by radiologists. CONCLUSION: Intralabyrinthine schwannomas differ from intracanalicular schwannomas in the severity of hearing loss at presentation. Otherwise, these two tumors present in a very similar fashion-age at presentation, presenting signs and symptoms-and are treated comparably. Otolaryngologists should maintain a high degree of suspicion for ILS in patients presenting with an asymmetric hearing loss, vertigo, and tinnitus.

A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.

OBJECTIVE: Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. The syndrome results in aortic and arterial aneurysms and dissections at a young age. Diagnosis is confirmed with molecular testing via skin biopsy or genetic testing for COL3A1 pathogenic variants. We describe a multi-institutional experience in the diagnosis of vEDS from 2000 to 2015. METHODS: This is a multi-institutional cross-sectional retrospective study of individuals with vEDS. The institutions were recruited through the Vascular Low Frequency Disease Consortium. Individuals were identified using the International Classification of Diseases-9 and 10-CM codes for EDS (756.83 and Q79.6). A review of records was then performed to select individuals with vEDS. Data abstraction included demographics, family history, clinical features, major and minor diagnostic criteria, and molecular testing results. Individuals were classified into two cohorts and then compared: those with pathogenic COL3A1 variants and those diagnosed by clinical criteria alone without molecular confirmation. RESULTS: Eleven institutions identified 173 individuals (35.3% male, 56.6% Caucasian) with vEDS. Of those, 11 (9.8%) had nonpathogenic alterations in COL3A1 and were excluded from the analysis. Among the remaining individuals, 86 (47.7% male, 68% Caucasian, 48.8% positive family history) had pathogenic COL3A1 variants and 76 (19.7% male, 19.7% Caucasian, 43.4% positive family history) were diagnosed by clinical criteria alone without molecular confirmation. Compared with the cohort with pathogenic COL3A1 variants, the clinical diagnosis only cohort had a higher number of females (80.3% vs 52.3%; P < .001), mitral valve prolapse (10.5% vs 1.2%; P = .009), and joint hypermobility (68.4% vs 40.7%; P < .001). Additionally, they had a lower frequency of easy bruising (23.7% vs 64%; P < .001), thin translucent skin (17.1% vs 48.8%; P < .001), intestinal perforation (3.9% vs 16.3%; P = .01), spontaneous pneumothorax/hemothorax (3.9% vs 14%, P.03), and arterial rupture (9.2% vs 17.4%; P = .13). There were no differences in mortality or age of mortality between the two cohorts. CONCLUSIONS: This study highlights the importance of confirming vEDS diagnosis by testing for pathogenic COL3A1 variants rather than relying on clinical diagnostic criteria alone given the high degree of overlap with other forms genetically triggered arteriopathies. Because not all COL3A1 variants are pathogenic, the interpretation of the genetic testing results by an individual trained in variant assessment is essential to confirm the diagnosis. An accurate diagnosis is critical and has serious implications for lifelong screening and treatment strategies for the affected individual and family members.

Atoh1 is required in supporting cells for regeneration of vestibular hair cells in adult mice.

In amniotes, head movements are encoded by two types of vestibular hair cells (type I and type II) with unique morphology, physiology, and innervation. After hair cell destruction in mature rodents, supporting cells regenerate some type II hair cells, but no type I hair cells are replaced. The transcription factor Atoh1 is required for hair cell development, and Atoh1 is upregulated in supporting cells, the hair cell progenitors, in mature chickens and mice following hair cell damage. We investigated whether Atoh1 is required for type II hair cell regeneration in adult mice after genetic ablation of hair cells. First, we used a knock-in Atoh1 reporter to demonstrate that supporting cells in the utricle, a vestibular organ that detects linear acceleration of the head, upregulate Atoh1 expression by 7 days after hair cell destruction was initiated. Next, we labeled supporting cells prior to damage and fate-mapped them over time to test whether conditional deletion of Atoh1 from supporting cells prevented them from converting into hair cells after damage. In mice with normal Atoh1 expression, fate-mapped supporting cells in the adult utricle gave rise to hundreds of type II hair cells after hair cell destruction, but they did not form new type I hair cells. By contrast, mice with Atoh1 deletion prior to hair cell damage had only 10-20 fate-mapped type II hair cells per utricle at 3 weeks post-damage, and numbers did not change at 12 weeks after hair cell destruction. Supporting cells had normal cell shape and nuclear density up to 12 weeks after Atoh1 deletion. Similar observations were made in two other vestibular organs, the saccule and the lateral ampulla. Our findings demonstrate that Atoh1 is necessary in adult mouse supporting cells for regeneration of type II vestibular hair cells and that deletion of Atoh1 from supporting cells prior to damage does not appear to induce supporting cells to die or to proliferate.

A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.

OBJECTIVE: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder owing to pathogenic variants in COL3A1 that lead to impaired type III collagen production. We aim to describe the contemporary multi-institutional experience of aortic and arterial pathology in individuals with vEDS, to evaluate disease patterns and refine management recommendations. METHODS: This cross-sectional, retrospective study of individuals with genetically confirmed vEDS was conducted between 2000 and 2015 at multiple institutions participating in the Vascular Low Frequency Disease Consortium. Aortic and arterial events including aneurysms, pseudoaneurysms, dissections, fistulae, or ruptures were studied. Demographics, COL3A1 variants, management, and outcomes data were collected and analyzed. Individuals with and without arterial events were compared. RESULTS: Eleven institutions identified 86 individuals with pathogenic variants in COL3A1 (47.7% male, 86% Caucasian; median age, 41 years; interquartile range [IQR], 31.0-49.5 years; 65.1% missense COL3A1 variants). The median follow-up from the time of vEDS diagnosis was 7.5 years (IQR, 3.5-12.0 years). A total of 139 aortic/arterial pathologies were diagnosed in 53 individuals (61.6%; 50.9% male; 88.5% Caucasian; median age, 33 years; IQR, 25.0-42.3 years). The aortic/arterial events presented as an emergency in 52 cases (37.4%). The most commonly affected arteries were the mesenteric arteries (31.7%), followed by cerebrovascular (16.5%), iliac (16.5%), and renal arteries (12.2%). The most common management was medical management. When undertaken, the predominant endovascular interventions were arterial embolization of medium sized arteries (13.4%), followed by stenting (2.5%). Aortic pathology was noted in 17 individuals (32%; 58.8% male; 94.1% Caucasian; median age, 38.5 years; IQR, 30.8-44.7 years). Most notably, four individuals underwent successful abdominal aortic aneurysm repair with excellent results on follow-up. Individuals with missense mutations, in which glycine was substituted with a large amino acid, had an earlier onset of aortic/arterial pathology (median age, 30 years; IQR, 23.5-37 years) compared with the other pathogenic COL3A1 variants (median age, 36 years; IQR, 29.5-44.8 years; P = .065). There were 12 deaths (22.6%) at a median age of 36 years (IQR, 28-51 years). CONCLUSIONS: Most of the vEDS arterial manifestations were managed medically in this cohort. When intervention is required for an enlarging aneurysm or rupture, embolization, and less frequently stenting, seem to be well-tolerated. Open repair of abdominal aortic aneurysm seems to be as well-tolerated as in those without vEDS; vEDS should not be a deterrent to offering an operation. Future work to elucidate the role of surgical interventions and refine management recommendations in the context of patient centered outcomes is warranted.

Bilateral Transorbital and Transnasal Endoscopic Resection of a Frontal Sinus Osteoblastoma and Orbital Mucocele: A Case Report and Review of the Literature.

OBJECTIVE: Describe a novel treatment approach to a rare bony neoplasm in the frontal sinus. STUDY DESIGN: Case report. METHODS: Retrospective chart review of an osteoblastoma of the frontal sinuses complicated by a right orbital mucocle. Demographic, endoscopic, radiographic, pathologic, and surgical data were collected for synthesis and review. MEDLINE, Embase, and Cochrane databases were searched from 1977 to 2017 to review publications of surgical management of frontal sinus neoplasms. RESULTS: A single female patient with a large frontal sinus osteoblastoma was successfully treated with a bilateral transorbital and transnasal approach. The right orbital mucocele was marsupialized into the frontal sinus. Gross total resection of the tumor was achieved, with complete resolution of the presurgical morbidity. The surgery was tolerated well without iatrogenic injury or sequela. CONCLUSION: Frontal sinus osteoblastoma is a rare condition. Complete surgical excision is considered curative. Various endoscopic and open approaches have been described. Here we show the feasibility and efficacy of a multiportal strategy in the successful management of a large frontal sinus osteoblastoma complicated by a right orbital mucocele.

Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.

OBJECTIVE: The contemporary practice of testing for genetically triggered aortic and arterial aneurysms and dissections is not well described. This study aimed to describe this practice at a tertiary care academic center and to ascertain the yield of testing in establishing the diagnosis in patients referred on the basis of clinical suspicion. METHODS: This is a retrospective cohort study of patients referred for vascular genetic testing at an academic medical center between 2010 and 2015. Patients were identified by Current Procedural Terminology diagnostic codes 81405, 81408, and 81479 for genetic testing (Marfan syndrome, Loeys-Dietz syndrome, aneurysms-osteoarthritis syndrome, COL3A1, and familial thoracic aortic aneurysm panel [ACTA2, COL3A1, TGFBR1, TGFBR2, SMAD3, TGFB2, MYLK, MYH11, and PRKG1 genes]) and by review of the collagen vascular laboratory database for genetic testing results. Data abstracted included demographics, clinical history, reason for referral, family history, referring provider type, and outcomes of genetic testing. RESULTS: Ninety-six patients (44.3% male; median age, 40.8 years) were referred for suspected genetic vascular disease. Genetic testing was performed in 75 cases thought to have heritable mutations related to aortic or arterial aneurysms and dissections. The most common reason for genetic testing was a personal history of aortic or arterial aneurysms and dissections (62.3%; mean age, 45.8 ± 11.1 years), followed by a family history of aortic or arterial aneurysms and dissections without a personal history (26.6%; age, 28.8 ± 17.9 years). The most common genetic testing performed was a familial thoracic aortic aneurysm gene panel (44%), followed by single gene testing for vascular Ehlers-Danlos syndrome (33.3%). Genetic testing identified a pathogenic mutation in 36% of the cases. The highest likelihood of identifying a pathogenic mutation was in those who had a family history with an already diagnosed mutation (57.1%), followed by patients with aortic root and ascending aortic aneurysm or dissection (42.3%). CONCLUSIONS: In patients with suspected genetically triggered vascular disease, the yield of clinical vascular genetic testing is reasonable when selective genetic testing is performed on the basis of personal or family history. These tests should be obtained with appropriate expertise in genetic counseling and interpretation of genetic testing results. Negative genetic test results in the setting of a positive family history demonstrate the limits of testing and known mutations leading to genetically triggered aortic and arterial aneurysms and dissections and support the need for novel gene discovery.