David T. Kent

Drug-Induced Sedation Endoscopy in the Evaluation of OSA Patients with Incomplete Oral Appliance Therapy Response.

Objective To use drug-induced sedation endoscopy (DISE) to identify locations and patterns of residual collapse in patients with obstructive sleep apnea (OSA) with incomplete response to oral appliance therapy (OAT). Study Design Case series with chart review. Setting Academic multidisciplinary sleep practice. Subjects and Methods Thirty-five consecutively screened adult patients with OSA with continuous positive airway pressure (CPAP) intolerance and incomplete response to OAT (apnea-hypopnea index [AHI] >15 or AHI >5 with persistent subjective symptoms) who underwent DISE with and without the oral appliance. Data collected included demographics, body mass index, polysomnography data, and management decisions after DISE. Each DISE video pair was retrospectively scored using the VOTE classification system by the same blinded reviewer (R.J.S.). Results All patients had multilevel airway collapse at baseline. The palate was the most common location of OAT failure. Fifteen (42.9%) had persistent collapse of the velum during DISE with OAT, and 7 (20%) had persistent collapse of the epiglottis. Twenty-three (65.7%) patients were offered targeted surgery based on DISE findings to augment OAT effectiveness. Twenty (57.1%) patients underwent additional medical therapy such as OAT adjustment or cervical positional therapy. Mean AHI was reduced from 37.4 at baseline, to 16.4 with OAT (P < .01), and to 10.7 after post-DISE intervention (P < .78). Conclusion In patients with incomplete response to OAT, DISE with and without the appliance can identify residual anatomical locations of collapse, which may direct additional medical and surgical treatment options to augment OAT effectiveness. Further work is needed to determine if DISE affects outcomes.

Association of common variants, not rare mutations, in IRF6 With nonsyndromic clefts in a honduran population†

Cleft lip with or without cleft palate (CL/P) is a common birth defect throughout the world. Linkage studies have shown interferon regulatory factor 6 (IRF6) to be associated with CL/P in multiple populations, including one in Honduras. It is unknown, however, whether rare sporadic mutations or common variants are the cause of this association, and reports exist supporting both hypotheses. Thus, it is important to determine the cause for this association in a Honduran population.

Conventional and 3-Dimensional Computerized Tomography in Eagle’s Syndrome, Glossopharyngeal Neuralgia, and Asymptomatic Controls

Objective Eagle’s syndrome (ES) is an aggregate of symptoms, including recurrent throat pain, foreign body sensation, dysphagia, or facial pain related to an elongated styloid process (SP). It resembles glossopharyngeal neuralgia and has been linked to irritation of the glossopharyngeal nerve. This study was designed to determine whether computerized tomography (CT) imaging of the stylohyoid chain (SHC) differs between asymptomatic controls (ACs), patients with glossopharyngeal neuralgia (GN), and patients with ES. Study Design Case series with chart review. Setting Tertiary otolaryngology practice. Subjects and Methods Conventional and 3-dimensional CT reconstructions of the SHC were reviewed for 10 ES, 17 GN, and 30 AC patients. Demographic and clinical symptom data were recorded. Anatomic data collected from CT scans included length of the ossified SP, anterior-posterior and medial-lateral styloid process angulation, ossification pattern of the SHC, and minimum distances between the SP tip, the internal carotid artery, and the tonsillar fossa. Results The average distance from the SP tip to the tonsillar fossa was significantly shorter in ES (12.7 mm) compared with GN (21.4 mm; P = .027) or AC (24.8 mm; P < .0005) patients. No other variables were significantly different between groups, including average SP length (ES: 48.0 vs GN: 40.3 vs AC: 40 mm; P > .05). Conclusion The SP was significantly closer to the tonsillar fossa in patients with ES compared with ACs. No significant differences were found in other measures. Distance to the tonsillar fossa may be a more appropriate diagnostic criterion for ES than SP length and may contribute to the pathophysiology of ES.

Novel IRF6 mutations in Honduran Van der Woude syndrome patients.

Van der Woude syndrome (VWS) is an autosomal dominant inherited disease characterized by lower lip pits, cleft lip and/or cleft palate. Missense, nonsense and frameshift mutations in IRF6 have been revealed to be responsible for VWS in European, Asian, North American and Brazilian populations. However, the mutations responsible for VWS have not been studied in Central American populations. Here, we investigated the role of IRF6 in patients with VWS in a previously unstudied Honduran population. IRF6 mutations were identified in four out of five VWS families examined, which strongly suggests that mutations in IRF6 are responsible for VWS in this population. We reported three novel mutations and one previously described mutation. In the first family, a mother and daughter both exhibited a p.N88I mutation in the DNA-binding region of IRF6 that was not present in unaffected family members. In the second, we found a unique p.K101QfsX15 mutation in the affected patient, leading to a frameshift and early stop codon. In the third, we identified a p.Q208X mutation occurring in exon 6. In the fourth, we found a nonsense mutation in exon 9 (p.R412X), previously described in Brazilian and Northern European populations. In the fifth, we did not identify any unique exonic missense, nonsense or frameshift mutations. This study reports the first cases of IRF6 mutations in VWS patients in a Central American population, further confirming that the causal link between IRF6 and VWS is consistent across multiple populations.

Environmental Factors That Can Affect Sleep and Breathing : Allergies

Allergic rhinitis and associated symptomatic nasal obstruction negatively affect sleep through a variety of mechanisms and may contribute to persistent symptoms and poor adherence with medical device therapy for sleep apnea. A history of sinonasal symptoms, particularly those that occur at night or in the supine position, is the cornerstone of the medical evaluation. Further research into the relationship between allergic rhinitis and sleep disturbance would benefit from improved anatomic and pathophysiologic phenotyping as well as more advanced outcome measures such as spectral electroencephalogram analysis or other polysomnography variables beyond the apnea-hypopnea index.

Frequency-Specific Hearing Outcomes in Pediatric Type I Tympanoplasty

IMPORTANCE Middle ear disease is the primary cause of hearing loss in children and has a significant impact on language development and academic performance. Multiple prognostic factors have previously been examined, but there is little published data regarding frequency-specific hearing outcomes. OBJECTIVE To examine the relationship between type I tympanoplasty in a pediatric population and frequency-specific hearing changes, as well as the relationship between several prognostic factors and graft retention. DESIGN, SETTING, AND PARTICIPANTS Retrospective medical chart review (February 2006 to October 2011) of 492 consecutive pediatric otolaryngology patients undergoing type I tympanoplasty for tympanic membrane (TM) perforation of any etiology at a tertiary-care pediatric otolaryngology practice. INTERVENTIONS Type I tympanoplasty. MAIN OUTCOMES AND MEASURES Preoperative and postoperative audiometric data were collected for patients undergoing successful TM repair. It was hypothesized before data collection that conductive hearing would improve at all frequencies with no significant change in sensorineural hearing. Data collected included air conduction at 250 to 8000 Hz, speech reception thresholds, bone conduction at 500 to 4000 Hz, and air-bone gap at 500 to 4000 Hz. Demographic data obtained included sex, age, size, mechanism, location of perforation, and operative repair technique. RESULTS Of 492 patients, 320 were excluded; results were thus examined for 172 patients. Surgery was successful for 73.8% of patients. Perforation size was significantly associated with repair success (mean [SD] surgical success rate of 38.6% [15.3%] vs surgical failure rate of 31.4% [15.0%]; P < .01); however, mean (SD) age (9.02 [3.89] years [surgical success] vs 8.52 [3.43] years [surgical failure]; P > .05) and repair technique (medial [73.08%] vs lateral [76.47%] graft success; P > .99) were not. Air conduction significantly improved from 250 to 2000 Hz (P < .001), did not significantly improve at 4000 Hz (P = .08), and there was a nonsignificant decline at 8000 Hz (P = .12). Speech reception threshold significantly improved (20 vs 15 dB; P < .001). CONCLUSIONS AND RELEVANCE This large review found an association of TM perforation size with surgical success and an improvement in speech reception threshold, air conduction at 250 to 2000 Hz, air-bone gap at 500 to 2000 Hz, and worsening bone conduction at 4000 Hz. Patients with high-frequency hearing loss due to TM perforation should not anticipate significant recovery from type I tympanoplasty. Hearing loss at higher frequencies may require postoperative hearing rehabilitation.

Sialendoscopy: Getting started, how long does it take?

Dilation of the salivary gland papilla for access is well‐recognized as one of the major rate‐limiting steps to sialendoscopy and has been shown to be a major challenge for beginners. The purpose of this study was to demonstrate that an algorithm involving multiple techniques for salivary duct access in sialendoscopy results in excellent success rates and acceptable operative times.

In Reply to: "Position of the Styloid Process in Eagle's Syndrome".

geal neuralgia, and asymptomatic controls. Otolaryngol Head Neck Surg. 2015;153:41-47. 2. Koshy JM, Narayan M, Narayanan S, Priya BS, Sumathy G. Elongated styloid process: a study. J Pharm Bioallied Sci. 2015;7:131133. 3. Onbas O, Kantarci M, Murat Karasen R, et al. Angulation, length, and morphology of the styloid process of the temporal bone analyzed by multidetector computed tomography. Acta Radiol. 2005;46:881-886. 4. Yavuz H, Caylakli F, Yildirim T, Ozluoglu LN. Angulation of the styloid process in Eagle’s syndrome. Eur Arch Otorhinolaryngol. 2008;265:1393-1396.

Drug-Induced Sleep Endoscopy Informs Management of Obstructive Sleep Apnea after Incomplete Mandibular Advancement Device Response

Objectives: (1) Understand that half of obstructive sleep apnea (OSA) patients failing positive airway pressure (PAP) attempt mandibular advancement device (MAD) therapy but still suffer from residual disease. (2) Describe how drug-induced sleep endoscopy (DISE) evaluates anatomical patterns of obstruction under conditions that mimic sleep and aids management in patients with incomplete response to MAD. Methods: A review of 35 consecutive adult OSA patients, with continuous positive airway pressure intolerance and incomplete response to MAD therapy (apnea-hypopnea index [AHI] >15 or AHI >5 with persistent subjective symptoms), who underwent DISE with and without the MAD between 12/2010 and 8/2013. Data collected included demographics, body mass index (BMI), Epworth Sleepiness Score (ESS), polysomnography data, and management decisions after DISE. Each DISE video was retrospectively scored using the VOTE classification system by the same blinded reviewer (R.J.S.). Results: All patients had multilevel airway obstruction during baseline DISE. 32 (91.4%) obstructed in the velopharynx despite MAD use. 26 (74.3%) patients were recommended to undergo targeted surgery based on DISE findings with 21 (60%) completing it. Nineteen (54.3%) underwent additional medical therapy such as MAD or PAP adjustment. Twelve (34.3%) were treated with surgical and medical therapy. Subjective and objective outcomes were significantly improved in 15 patients with outcome data currently available (mean AHI 39.3 to 10.7, P < .01; ESS 11.2 to 6.25, P < .01). Conclusions: In patients with incomplete response to MAD therapy, DISE with and without the MAD provides informs management decisions regarding additional medical or surgical options to augment the effectiveness of the MAD.

Frequency-Specific Hearing Outcomes after Use of a Powered Drill in Pediatric Type I Tympanoplasty

Objectives: (1) Describe factors related to frequency-specific hearing outcomes after type I tympanoplasty in pediatric patients. (2) Describe the effect of powered bone drilling on frequency-specific hearing outcomes after type I tympanoplasty. Methods: Retrospective medical chart review (February 2006 to October 2011) of 492 consecutive pediatric otolaryngology patients undergoing type I tympanoplasty for tympanic membrane (TM) perforation of any etiology at a tertiary-care pediatric otolaryngology practice. Data collected included air conduction at 250 to 8000 Hz, speech reception thresholds, bone conduction at 500 to 4000 Hz, and air-bone gap at 500 to 4000 Hz. Demographic data obtained included sex, age, size, mechanism, location of perforation, and operative repair technique, as well as the use of a powered bone drill during surgery. Results: A downtrend in sensorineural hearing at 2000 and 4000 Hz was noted with the use of a powered drill during surgery, although no significant difference in sensorineural hearing or air-bone gap was detected at 500, 1000, 2000, or 4000 Hz (P > .05). No significant change was detected in conductive hearing at 1000, 2000, 4000 Hz, or 8000 Hz (P > .05). Significant improvement was noted in lower-frequency conductive hearing at 250 and 500 Hz (P < .001). Conclusions: No correlation between high-frequency hearing loss and use of a powered drill during type I tympanoplasty was found in this pediatric population. Surgery was found to significantly improve conductive hearing at 200 and 500 Hz. Based on these results, use of a powered bone drill is not contraindicated during type I tympanoplasty.