Gillian R. Diercks

Treatment outcomes and prognostic factors, including human papillomavirus, for sinonasal undifferentiated carcinoma: A retrospective review

Sinonasal undifferentiated carcinoma (SNUC) is a high‐grade, aggressive neoplasm. Low incidence and poor outcomes make identification of prognostic factors and treatment standardization difficult. Similarly, little is known regarding the association of human papillomavirus (HPV) with SNUC.

A Case of preoperative “first-bite syndrome” associated with mucoepidermoid carcinoma of the parotid gland†‡

First‐bite syndrome, characterized by excruciating pain in the parotid region after the first few bites of food, can be seen after surgery of the parapharyngeal space. Herein we describe a patient with no prior surgical history who presented with facial pain consistent with first‐bite syndrome. Imaging and ultrasound‐guided FNA revealed a nonpalpable mucoepidermoid carcinoma of the parotid gland, which was removed surgically with facial nerve preservation. After surgical intervention, the patients symptoms resolved. An extensive literature review demonstrated that this is the first description of a preoperative first‐bite syndrome, or first‐bite syndrome associated with the presence a parotid mass. Laryngoscope, 2011

Hypoglossal Nerve Stimulator Implantation in an Adolescent With Down Syndrome and Sleep Apnea

Obstructive sleep apnea (OSA) is more common in children with Down syndrome, affecting up to 60% of patients, and may persist in up to 50% of patients after adenotonsillectomy. These children with persistent moderate to severe OSA require continuous positive airway pressure, which is often poorly tolerated, or even tracheotomy for severe cases. The hypoglossal nerve stimulator is an implantable device that produces an electrical impulse to the anterior branches of the hypoglossal nerve, resulting in tongue protrusion in response to respiratory variation. It is an effective treatment of sleep apnea in select adult patients because it allows for alleviation of tongue base collapse, improving airway obstruction. Herein we describe the first pediatric hypoglossal nerve stimulator implantation, which was performed in an adolescent with Down syndrome and refractory severe OSA (apnea hypopnea index [AHI]: 48.5 events/hour). The patient would not tolerate continuous positive airway pressure and required a long-standing tracheotomy. Hypoglossal nerve stimulator therapy was well tolerated and effective, resulting in significant improvement in the patient’s OSA (overall AHI: 3.4 events/hour; AHI: 2.5–9.7 events/hour at optimal voltage settings depending on sleep stage and body position). Five months after implantation, the patient’s tracheotomy was successfully removed and he continues to do well with nightly therapy.

The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population.

Interferon regulatory factor 6 (IRF6), the gene that causes van der Woude syndrome (VWS), is a candidate gene for nonsyndromic cleft lip with or without cleft palate (NSCLP) because a number of studies have supported an association between NSCLP and single nucleotide polymorphisms (SNPs) in IRF6 in several populations. This project investigated the contribution of IRF6 to NSCLP in the Honduran population, a previously unstudied group with a high prevalence of NSCLP.

Establishment of a Normative Cepstral Pediatric Acoustic Database

IMPORTANCE Few studies have used objective measures to evaluate the development of the normal pediatric voice. Cepstral analysis of continuous speech samples is a reliable method for gathering acoustic data; however, it has not been used to examine the changes that occur with voice development. OBJECTIVE To establish and characterize acoustic patterns of the normal pediatric voice using cepstral analysis of voice samples from a normal pediatric voice database. DESIGN, SETTING, AND PARTICIPANTS Cross-sectional study of 218 children aged 4 to 17 years, for whom English was the primary language spoken at home, conducted at a pediatric otolaryngology practice and pediatric practice in a tertiary hospital (April 2012-May 2014). INTERVENTIONS AND EXPOSURES Sustained vowel utterances and continuous speech samples (4 Consensus Auditory-Perceptual Evaluation of Voice [CAPE-V] and 2 sentences from the rainbow passage) were recorded and analyzed from children with normal voices. MAIN OUTCOMES AND MEASURES Normal values were collected for the acoustic measures studied (ie, fundamental frequency, cepstral peak fundamental frequency, cepstral peak prominence [CPP], low-to-high spectral ratio [L/H ratio], and cepstral-spectral index of dysphonia in recorded phrases) and compiled into a normative acoustic database. RESULTS Significant changes in fundamental frequency were observed with a distinct shift in slope at ages 11 and 14 years in boys for sustained vowel (ages 4-11 years, -6.83 Hz/y [P < .001]; 11-14 years, -27.62 Hz/y [P < .001]; and 14-17 years, -5.68 Hz/y [P = .001]), all voiced (ages 4-11 years, -4.19 Hz/y [P = .002]; 11-14 years, -29.42 Hz/y [P < .001]; and 14-17 years, -4.63 Hz/y [P < .001]), glottal attack (ages 4-11 years, -4.51 Hz/y; 11-14 years, -27.23 Hz/y; and 14-17 years, -1.70 Hz/y [P < .001 for all]), and rainbow (ages <14 years, -20.68 Hz/y [P < .001]; and 14-17 years, -4.50 Hz/y [P = .001]) recordings. A decreasing linear trend in fundamental frequency among all recordings (vowel, all voiced, easy onset, glottal attack, plosives, and rainbow) was found in girls (-2.56 Hz/y [P < .001], -3.48 Hz/y [P < .001], -2.82 Hz/y [P < .001], -3.49 Hz/y [P < .001], -2.30 Hz/y [P < .001], and -2.98 Hz/y [P = .01], respectively). A linear increase in CPP was seen with age in boys, with significant changes seen in recordings for vowel (0.10 dB/y [P = .05]), all voiced (0.2 dB/y [P < .001]), easy onset (0.13 dB/y [P < .001]), glottal attack (0.12 dB/y [P < .001]), plosives (0.15 dB/y [P < .001]), and rainbow (0.17 dB/y [P = .006]). A significant linear increase in CPP for girls was only seen in all voiced (0.13 dB/y [P < .001]). L/H ratio showed a linear increase with age among all speech samples (vowel, all voiced, easy onset, glottal attack, plosives, and rainbow) in boys (1.14 dB/y [P < .001], 0.92 dB/y [P < .001], 1.19 dB/y [P < .001], 0.79 dB/y [P < .001], 0.69 dB/y [P < .001], and 0.54 dB/y [P = .002], respectively) and girls (0.96 dB/y, 0.60 dB/y, 0.75 dB/y, 0.37 dB/y, 0.44 dB/y, and 0.58 dB/y, respectively [P ≤ .001 for all]). CONCLUSIONS AND RELEVANCE This represents the first pediatric voice database using frequency-based acoustic measures. Our goal was to characterize the changes that occur in both male and female voices as children age. These findings help illustrate how acoustic measurements change with development and may aid in our understanding of the developing voice, pathologic changes, and response to treatment.

Dermoid Cyst of the Lateral Neck Associated with the Thyroid Gland: a Case Report and Review of the Literature

Dermoid cysts are the most common teratomatous lesion; however, they infrequently arise in the head and neck region. Very rarely, dermoid cysts have been described in the thyrohyoid region, masquerading as a thyroid nodule. We describe the case of a 31-year-old woman with a lateral neck mass, associated with the thyroid gland inferiorly, which was excised and found to be a dermoid cyst. We then review the pathogenesis of dermoid cysts in this region, as well as review diagnosis and treatment of dermoid cysts of the head and neck.

Stress velopharyngeal incompetence: Two case reports and options for diagnosis and management

Stress velopharyngeal incompetence (SVPI) commonly affects brass and wind musicians. We present a series of two patients who presented with nasal air emission following prolonged woodwind instrument practice. Neither patient demonstrated audible nasal air emission during speech, but endoscopy revealed localized air escape/bubbling from different sites for each patient with instrument playing only. Both underwent tailored surgical treatment with resolution of symptoms during performance. Diagnosis of SVPI requires examination during the action that induces VPI to allow for directed management. Treatment should be targeted based on nasopharyngoscopy findings.

PD-L1 expression and CD8+ infiltration shows heterogeneity in juvenile recurrent respiratory papillomatosis

INTRODUCTION Tumor immunotherapy have broadened therapeutic options for tumor treatment. The role of immune function in juvenile recurrent respiratory papillomatosis (JRRP) has not been investigated. Applying immunoblockade inhibitors as a novel disease treatment is unclear. Our study, for the first time, evaluates immune infiltration and immuno-suppressive molecule expression in JRRP. Our study provides insights in possibly treating this disease with tumor immunotherapies. We aimed to determine expression of programmed death-ligand 1 (PD-L1), a cancer escape protein, and presence of CD8+ T cell infiltration in tumor microenvironment. MATERIAL AND METHODS Seven patients with JRRP (mean age: 7.43; age range 3-17) in this study routinely have their tumors surgical debulked at Massachusetts Eye and Ear Infirmary. Following surgery, samples were de-identified and sent to pathology where they were stained and analyzed. RESULTS Six out of seven patients expressed PD-L1 on tumor cells to various extents. Three patients showed concurrent PD-L1 expression on tumor cells and abundant CD8+ tumor infiltrating lymphocytes as well as PD-L1+ stromal lymphocytes, while PD-L1 expression on tumor cells were not associated with CD8+ tumor infiltrating T cells nor PD-L1+ stromal lymphocytes in the other three patients. HPV 6/11 and p16 was detected in all the patients. There appeared to be no correlation between either PD-L1 expression and CD8+ infiltration and clinical severity as measured by both the number of surgeries per year or Derkay score. CONCLUSIONS Despite a small cohort, the expression of p16 and HPV 6/11 in all of the patients confirms the tissues were HPV tumor cells. PD-L1 expression was detected in the vast majority of tumor samples, while inflammatory cell compartments showed a higher degree of variation. Expression of PD-L1 on tumor cells but not inflammatory cells raises the possibility of a tumor cell intrinsic manner of PD-L1 expression. In contrast, a group of patients showed PD-L1 positivity in both tumor and inflammatory cells along with abundant CD8+ tumor infiltrating lymphocytes, suggesting adoptive immune resistance in these tumors and potential benefits from tumor immunotherapy.

Hypoglossal Nerve Stimulation in Adolescents With Down Syndrome and Obstructive Sleep Apnea

Importance Obstructive sleep apnea (OSA) affects up to 60% of children with Down syndrome (DS) and may persist in half of patients after adenotonsillectomy. Children with DS who have persistent OSA often do not tolerate treatment with positive pressure airway support devices or tracheotomy for their residual moderate to severe OSA. The hypoglossal nerve stimulator is an implantable device that delivers an electrical impulse to anterior branches of the hypoglossal nerve in response to respiratory variation, resulting in tongue base protrusion that alleviates upper airway obstruction in adults. Objective To determine whether hypoglossal nerve stimulation is safe and effective in children with DS. Design, Setting, and Participants Case series of the first 6 adolescents with DS to undergo hypoglossal nerve stimulator implantation. Participants were 6 children and adolescents (12-18 years) with DS and severe OSA (apnea hypopnea index [AHI] > 10 events/h) despite prior adenotonsillectomy. Intervention Inspire hypoglossal nerve stimulator placement. Main Outcomes and Measures Patients were monitored for adverse events. Adherence to therapy was measured by hours of use recorded by the device. Efficacy was evaluated by comparing AHI and OSA-18, a validated quality-of-life instrument, scores at baseline and follow-up. Results In 6 patients (4 male, 2 female; aged 12-18 years), hypoglossal nerve stimulator therapy was well tolerated (mean use, 5.6-10.0 h/night) and effective, resulting in significant improvement in OSA. At 6- to 12-month follow-up, patients demonstrated a 56% to 85% reduction in AHI, with an overall AHI of less than 5 events/h in 4 children and less than 10 events/h in 2 children. Children also demonstrated a clinically significant improvement (mean [SD] overall change score, 1.5 [0.6]; range, 0.9-2.3) on the OSA-18, a validated quality-of-life instrument. Conclusions and Relevance Hypoglossal nerve stimulation was well tolerated and effective in the study population, representing a potential therapeutic option for patients with DS and refractory OSA after adenotonsillectomy who are unable to tolerate positive pressure airway devices. Trial Registration clinicaltrials.gov Identifier: NCT2344108

Management of the critical airway when an EXIT procedure is not an option: A case report.

Perinatal imaging facilitates detection of congenital head and neck masses to plan fetal procedures which secure the airway. Ex utero intrapartum therapy (EXIT) procedures are preferred to protect the neonatal airway. Herein we present a case in which a neonate with a large oropharyngeal lymphovascular malformation was delivered and the airway successfully managed without an EXIT procedure using a multidisciplinary approach. Preparations for the non-EXIT delivery and critical airway management are described.