Advanced practice providers and children's hospital-based pediatric otolarynology practices.

INTRODUCTION: Advanced practice providers (APPs), including nurse practitioners and physician assistants, have been deployed in children's hospital-based academic pediatric otolaryngology practices for many years. However, this relationship in terms of prevalence, roles, financial consequences and satisfaction has not been examined. The objective of this study is to explore how APPs impact healthcare delivery in this setting. METHODS: Pediatric otolaryngology chiefs of all academic children's hospitals in the US were electronically surveyed about the ways APPs intersected clinically and financially in their respective practice. RESULTS: A total of 29 of 36 children's hospital-based pediatric otolaryngology practices completed the survey, of which 26 practices (90%) utilized APP. There were large variances within the APP practice cohort in faculty size (mean/median/range = 9.4/8.5/3-29); annual patient visits (mean/median = 18,373/17,600); number of practice site (mean/median/range = 4.3/4/2-9) and number of outpatient APP (mean/median/range = 6.3/5/1-30). No factors (faculty size, annual visits and number of practice sites) differentiated between the APP and non-APP practices. Among APP practices, significant correlation (p<.00001) was observed between size of APP cohort to faculty size and annual visits. 69% of the practices did not differentiate job functions of nurse practitioners and physician assistants. 85% of the practices utilized APPs in all practice sites and 19% utilized APPs in the operating room. 77% of APPs billed independently and 46% had on-site supervision. The most prevalent APP salary bracket based on 0-5, 6-10 and > 11 years of tenure were $76-100K (65%), $100-150K (77%) and $100-150K (86%), respectively. In 46% of the practices, APPs were able to generate enough revenue to cover more than 75% of their salary and 23% of practices generated a profit. 81% of the chiefs ranked the effectiveness of APPs as high (4 and 5) on a 5-point Likert scale. DISCUSSION: The majority of academic pediatric otolaryngology practices employed APPs. Despite the diversity seen in practice complexity, APP functionality and financial impact, most found the APP model to be beneficial in improving patient care, patient access and faculty productivity.

Complete Tracheal Ring Deformity. A Translational Genomics Approach to Pathogenesis.

Rationale: Complete tracheal ring deformity (CTRD) is a rare congenital abnormality of unknown etiology characterized by circumferentially continuous or nearly continuous cartilaginous tracheal rings, variable degrees of tracheal stenosis and/or shortening, and/or pulmonary arterial sling anomaly.Objectives: To test the hypothesis that CTRD is caused by inherited or de novo mutations in genes required for normal tracheal development.Methods: CTRD and normal tracheal tissues were examined microscopically to define the tracheal abnormalities present in CTRD. Whole-exome sequencing was performed in children with CTRD and their biological parents ("trio analysis") to identify gene variants in patients with CTRD. Mutations were confirmed by Sanger sequencing, and their potential impact on structure and/or function of encoded proteins was examined using human gene mutation databases. Relevance was further examined by comparison with the effects of targeted deletion of murine homologs important to tracheal development in mice.Measurements and Main Results: The trachealis muscle was absent in all of five patients with CTRD. Exome analysis identified six de novo, three recessive, and multiple compound-heterozygous or rare hemizygous variants in children with CTRD. De novo variants were identified in SHH (Sonic Hedgehog), and inherited variants were identified in HSPG2 (perlecan), ROR2 (receptor tyrosine kinase-like orphan receptor 2), and WLS (Wntless), genes involved in morphogenetic pathways known to mediate tracheoesophageal development in mice.Conclusions: The results of the present study demonstrate that absence of the trachealis muscle is associated with CTRD. Variants predicted to cause disease were identified in genes encoding Hedgehog and Wnt signaling pathway molecules, which are critical to cartilage formation and normal upper airway development in mice.

Efficacy and Safety of Sirolimus in the Treatment of Complicated Vascular Anomalies.

BACKGROUND AND OBJECTIVES: Complicated vascular anomalies have limited therapeutic options and cause significant morbidity and mortality. This Phase II trial enrolled patients with complicated vascular anomalies to determine the efficacy and safety of treatment with sirolimus for 12 courses; each course was defined as 28 days. METHODS: Treatment consisted of a continuous dosing schedule of oral sirolimus starting at 0.8 mg/m(2) per dose twice daily, with pharmacokinetic-guided target serum trough levels of 10 to 15 ng/mL. The primary outcomes were responsiveness to sirolimus by the end of course 6 (evaluated according to functional impairment score, quality of life, and radiologic assessment) and the incidence of toxicities and/or infection-related deaths. RESULTS: Sixty-one patients were enrolled; 57 patients were evaluable for efficacy at the end of course 6, and 53 were evaluable at the end of course 12. No patient had a complete response at the end of course 6 or 12 as anticipated. At the end of course 6, a total of 47 patients had a partial response, 3 patients had stable disease, and 7 patients had progressive disease. Two patients were taken off of study medicine secondary to persistent adverse effects. Grade 3 and higher toxicities attributable to sirolimus included blood/bone marrow toxicity in 27% of patients, gastrointestinal toxicity in 3%, and metabolic/laboratory toxicity in 3%. No toxicity-related deaths occurred. CONCLUSIONS: Sirolimus was efficacious and well tolerated in these study patients with complicated vascular anomalies. Clinical activity was reported in the majority of the disorders.

Multicenter Evaluation of the Effectiveness of Systemic Propranolol in the Treatment of Airway Hemangiomas.

OBJECTIVE: To evaluate the effectiveness of systemic propranolol in airway infantile hemangioma (AIH) treatment. DESIGN: Case series with chart review. PARTICIPANTS: Patients with AIH treated with propranolol between 2009 and 2012 with at least a 1-year follow-up. OUTCOMES: Presenting age, treating institution, syndrome presence, presenting AIH stage, endoscopy status, propranolol initiation location/dose/duration, time to stridor resolution, adjunctive medical and surgical therapy, and treatment-associated complications. RESULTS: Twenty-seven patients met inclusion criteria. Average age of diagnosis was 2.3 months (range, 1-5 months). The AIHs were stage 1 in 7 of 27 (26%), stage 2 in 12 of 27 (44%), and stage 3 in 8 of 27 (30%). Propranolol initiation was inpatient in 25 of 27 (93%) and outpatient in 2 of 27 (7%). Propranolol dose was maintained at 2 mg/kg/d in all patients for a minimum of 7 months (range, 7-34 months; median, 15 months). Stridor was eliminated within 24 hours or less of propranolol initiation in 23 of 27 (85%). At diagnosis, staging and propranolol initiation in 11 of 27 (41%) were managed with propranolol alone; the remaining 16 of 27 (59%) also had a steroid injection. The use of adjuvant therapy at the time of propranolol initiation and the size of the AIH were not statistically correlated. Twelve patients had additional treatments after the initiation of propranolol due to recurrence of respiratory symptoms, 1 of 27 (4%) of whom was considered a nonresponder. No complications related to propranolol use were noted. CONCLUSIONS: This multisite study of AIH treatment with propranolol demonstrates similar effectiveness to surgical treatment modalities. Propranolol therapy for AIH had no complications, had potentially lower resource utilization, and should be considered a first-line AIH treatment.

Standardized outcome and reporting measures in pediatric head and neck lymphatic malformations.

OBJECTIVE: To develop general and site-specific treatment effect and outcome measures to standardize the reporting of head and neck lymphatic malformation (HNLM) treatments. STUDY DESIGN: Consensus statement/expert opinion. SETTING: Multiple tertiary academic institutions. SUBJECTS AND METHODS: The modified Delphi method is an iterative process of collecting expert opinions, refining opinions through discussion and feedback, statistically aggregating opinions, and using these aggregates to generate consensus opinion in the absence of other data. The modified Delphi method was used by a multi-institutional group of otolaryngology and interventional radiology experts in the field of vascular anomalies to formulate a list of recommended reporting outcomes for the study and treatment of head and neck lymphatic malformations. RESULTS: Through 3 rounds of iteration, 10 expert panelists refined 98 proposed outcome measures and 9 outcome categories to a final consensus set of 50 recommended outcome measures in 3 global categories (general, demographics, and treatment complications) and 5 site-specific categories (orbit, oral cavity, pharynx, larynx, and neck). CONCLUSIONS: We propose the first consensus set of standardized reporting measures for clinical and treatment outcomes in studies of HNLMs. Consistent outcome measures across future studies will facilitate comparison of treatment options and allow systematic review. We hope that these guidelines facilitate the design and reporting of subsequent HNLM studies.

Congenital salivary gland anlage tumor - in utero and postnatal imaging.

We present a case of an infant with congenital salivary gland anlage tumor, with fetal and postnatal imaging. To the best of our knowledge, this is the first case describing the in utero imaging findings of salivary gland anlage tumor. A fetal MRI was performed secondary to the clinical finding of polyhydramnios, which identified a nasopharyngeal mass. Because findings were concerning for airway obstruction, the fetus was delivered by ex utero intrapartum treatment (EXIT) to airway procedure. A postnatal CT confirmed the findings of the fetal MRI. The lesion was resected when the baby was 4 days old and recovery was uneventful.

Lymphatic malformations: diagnosis and management.

Lymphatic malformations are benign vascular lesions that arise from embryological disturbances in the development of the lymphatic system. They encompass a wide spectrum of related abnormalities, including cystic lymphatic lesions, angiokeratoma, lymphatic malformations that occur in bones (Gorham-Stout Syndrome), lymphatic and chylous leak conditions, and lymphedema. This article will focus only on lymphatic malformation mass lesions, whereas other related disease entities will be covered elsewhere in this journal issue. Lymphatic malformations occur frequently in lymphatic-rich areas such as the head and neck region, but they can also be found on any anatomical site in the body. In general, lymphatic malformations are categorized into macrocystic, microcystic, or combined depending on the size of the cysts contained within the lesion. Lymphatic malformations can cause both deformation of the anatomical site involved and functional deficits. The goal of this article is to discuss the etiology, epidemiology, treatment modalities, and comorbidities associated with lymphatic malformations.

Management of manifestations of epidermolysis bullosa.

PURPOSE OF REVIEW: Children with epidermolysis bullosa can present with disease(s) of the ears, nose, and throat, often related directly to the pathophysiology of their epidermolysis bullosa. Otolaryngologic diseases in children with epidermolysis bullosa have to be managed having a proper understanding of the diagnosis and pathophysiology of epidermolysis bullosa. The purpose of this review is to describe the current nomenclature and diagnostic algorithms for epidermolysis bullosa, and methods for the management of cutaneous and mucosal lesions. RECENT FINDINGS: Characterization of the gene defects leading to epidermolysis bullosa has allowed the utilization of immunofluorescent techniques as the primary method for epidermolysis bullosa diagnosis. Recognizing the difficulty in managing patients with epidermolysis bullosa, several multidisciplinary groups have developed guidelines using meta-analysis of the published literature, or expert panels. Though there are currently no effective treatment modalities for epidermolysis bullosa, techniques for gene and protein replacement show promising results for future use. SUMMARY: Currently, the management of cutaneous and mucosal disease in epidermolysis bullosa is based on the principles of prevention and wound care. Understanding the cause of epidermolysis bullosa types and subtypes, characteristics of skin and mucosal involvement, and prognosis will guide in the development of individualized treatment plans.

Tracheal agenesis with tracheoesophageal fistulae: fetal MRI diagnosis with confirmation by ultrasound during an ex utero intrapartum therapy (EXIT) delivery and postdelivery MRI.

Tracheal agenesis is a rare and essentially lethal anomaly with divergent prenatal imaging findings depending on the presence or absence of a tracheoesophageal fistula. All prenatally diagnosed cases of tracheal agenesis reported to date have not had a tracheoesophageal fistula and presented with thoracoabdominal findings similar to congenital high airway obstruction syndrome. We present the case of a 32-week gestation fetus with rapid onset of polyhydramnios and no persistent findings of congenital high airway obstruction syndrome that was ultimately diagnosed with tracheal agenesis plus tracheoesophageal fistula by fetal MRI. Additionally, we present the novel uses of intraoperative US during a staged ex utero intrapartum therapy delivery and postdelivery MRI, facilitated by proximity within the neonatal ICU, to confirm diagnosis and direct patient management while minimizing unnecessary investigations.

Cutaneous vascular lesions.

In 1982, vascular anomalies were classified as either vascular tumors or vascular malformations. Hemangiomas were identified as benign tumors that undergo a phase of active growth characterized by endothelial proliferation and hypercellularity, followed by gradual tumor regression over the first decade. Vascular malformations were described as structural congenital anomalies derived from capillaries, veins, lymphatic vessels, arteries, or a combination of these. Unlike vascular tumors, vascular malformations were shown to have normal levels of endothelial turnover and to grow proportionately with the child. This article describes the most common types of vascular anomalies and available treatment modalities.

Upper airway complications of junctional epidermolysis bullosa.

OBJECTIVE: To assess the incidence of upper airway pathology in patients with junctional epidermolysis bullosa (JEB). STUDY DESIGN: We conducted a retrospective chart review of all patients with JEB who came to an interdisciplinary epidermolysis bullosa center at a tertiary care institution between 2004 and 2010. RESULTS: Twenty-five patients with JEB were identified, and 12 patients were seen in the otolaryngology clinic (age range, 2 months-15 years; 8 male, 4 female). Of the 12 patients, 8 underwent rigid laryngoscopy and bronchoscopy for upper respiratory tract symptoms; 7 of these patients displayed laryngeal pathology, and 5 of them underwent surgical intervention with successful resolution of symptoms. Furthermore, none of these patients had any short- or long-term complications from their surgery. A strict protocol and a precise problem-focused cold surgical technique were used in these cases to protect skin and mucus membranes. CONCLUSION: With appropriate precautions, endoscopic laryngeal surgery can be safe and effective in patients with JEB and larygnotracheal disease. Endoscopic laryngeal surgery is feasible when indicated for these patients.

Antihypertensive drug-induced angioedema causing upper airway obstruction in children.

OBJECTIVE: Angioedema is a well-described complication arising from the use of antihypertensive agents in the adult population. However, its occurrence and potential for upper airway compromise in pediatrics has only been sporadically reported in the literature. Our objective is to report and review the occurrence of antihypertensive-induced angioedema in the pediatric population and the potential for airway compromise. METHODS: Charts of 42 patients admitted to Cincinnati Children's Hospital Medical Center with the discharge diagnosis of angioedema (ICD-9 code 995.1) from January 2000 to January 2010 were reviewed. Of the 42 charts, 3 cases had angioedema induced by antihypertensive drugs and all 3 resulted in upper airway obstruction. Summary and findings of the data collected from the medical chart review included demographics, chief complaint(s), past medical history, hospital course, antihypertensive drugs used, diagnostic test(s), medical treatment, and time from onset of symptoms to resolution. In addition, a PubMed literature search using the terms angioedema and antihypertensive drugs was performed to review its occurrence in pediatrics. The previous literature case reports were compared to our cases to further characterize and emphasize the clinical features of this occurrence in children and adolescents. RESULTS: Despite the well-known occurrence of antihypertensive drug-induced angioedema causing airway obstruction in adults, only 4 case reports have been previously published in children. At our institution, we describe 3 children who developed acute angioedema with upper airway obstruction after the chronic use of antihypertensive medications [2 drugs in the ACE inhibitor class (enalapril and lisinopril), and 1 drug in the calcium channel blocker class (CCB; amlodipine)]. In all 3 cases, the symptoms resolved within 1 week after the antihypertensive agent was discontinued. CONCLUSION: Upper airway obstruction can occur at any age when taking antihypertensive drugs. Particular caution should be applied to ACE inhibitors and CCBs in this regard. With the increasing use of antihypertensive agents in the pediatric population, clinicians should be alert to the possibility of angioedema with upper airway obstruction as a potential lethal adverse effect.

Neonates with tongue-based airway obstruction: a systematic review.

OBJECTIVE: In this systematic review, the authors summarize the current evidence in the literature regarding diagnosis, treatment, and long-term outcomes in neonates with tongue-based airway obstruction (TBAO) and assess the level of evidence of included studies. DATA SOURCES: The terms Pierre Robin syndrome/sequence, micrognathia, retrognathia, and cleft palate were combined with airway obstruction, treatment, tongue-lip plication, and osteogenesis distraction to perform an Ovid literature search, yielding 341 references. The authors excluded references containing patients with isolated choanal/nasal obstruction, patients older than 12 months, and expert opinion papers, yielding 126 articles. REVIEW METHODS: The authors searched 3 electronic databases and reference lists of existing reviews from 1980 to October 2010 for articles pertaining to the diagnosis, treatment, and outcomes of TBAO. Reviewers assigned a level of evidence score based on Oxford's Centre for Evidence Based Medicine scoring system and recorded relevant information. RESULTS: Most studies were case studies and single-center findings. The lack of standardization of diagnostic and treatment protocols and the heterogeneity of cohorts both within and between studies precluded a meta-analysis. There was little evidence beyond expert opinion and single-center evaluation regarding diagnosis, treatment, and long-term outcomes of neonates with TBAO. CONCLUSIONS: The variability in the phenotype of the cohorts studied and the absence of standardized indications for intervention preclude deriving any definitive conclusions regarding diagnostic tools to evaluate this patient population, treatment choices, or long-term outcomes. A coordinated multicenter study with a standardized diagnostic and treatment algorithm is recommended to develop evidence for the diagnosis and treatment of neonates with TBAO.

Voice outcomes following adult cricotracheal resection.

OBJECTIVES: Cricotracheal resection (CTR) is an effective treatment for moderate-to-severe laryngotracheal stenosis (LTS) in adults. However, one of the potentially significant sequela of this procedure is postoperative dysphonia and permanent voice alteration. The objective of this study is to characterize voice changes in adult patients with subglottic stenosis who have undergone CTR. STUDY DESIGN: Retrospective case-series. METHODS: Acoustic, aerodynamic, and consensus auditory-perceptual evaluation of voice (CAPE-V) data were reviewed for consecutive adult patients undergoing CTR and perioperative voice evaluation from 2000 to 2010. RESULTS: Sixteen patients (median age 44 years, 94% female) underwent CTR and voice evaluation during the study period. Thirteen patients underwent postoperative evaluation and had a mean overall CAPE-V score of 47.5/100, mean fundamental frequency (F0) of 156.7 Hz, average estimated subglottic pressure of 10.0 cm H(2) O, and an average airflow of 224 mL/sec. Seven patients underwent pre- and postoperative evaluations and had a significant reduction in mean F0 (206.5 vs. 151.1 Hz, P = .002) and mean F0 for connected speech (194.9 vs. 152.7 Hz, P = .047), but not in median intensity, range, estimated subglottic pressure, or airflow. Median overall CAPE-V scores worsened, but did not reach statistical significance (12 vs. 61.5, P = .28). Seventy-one percent of patients underwent an increase in acoustic signal typing postoperatively. CONCLUSIONS: Although CTR is an effective treatment for adult LTS, it results in significant alteration of the adult voice. In particular, CTR decreases the fundamental frequency of connected speech and vowel phonation and changes the acoustic signal type. Patients should be counseled about these likely voice alterations prior to undergoing surgery.

Use of sentinel node biopsy for staging parameningeal rhabdomyosarcoma.

Identification of nodal involvement is important for treatment planning in patients with rhabdomyosarcoma, and is facilitated by sentinel node biopsy. Although it is employed primarily for extremity tumors, we report using sentinel node biopsy in a patient with parameningeal rhabdomyosarcoma arising in the ethmoid sinus. Lymphoscintigraphy with single photon emission computed tomography following injection of tracer at the tumor site helped identify contralateral cervical node involvement not previously recognized by physical exam, cross sectional imaging, or other functional imaging. This case demonstrates how information from sentinel node identification and biopsy can change therapy recommendations in patients with parameningeal rhabdomyosarcoma.

Comprehensive airway management of neonatal head and neck teratomas.

OBJECTIVES: To determine the success of initial airway management and to characterize late airway-related complications in patients with airway obstruction due to congenital head and neck teratomas. STUDY DESIGN: Case series with chart review. SETTING: Tertiary airway referral institution. SUBJECTS AND METHODS: Review of consecutive patients with congenital head and neck teratomas from 1988 to 2010. Variables examined include initial airway stabilization at time of birth and perinatal airway management. Outcomes include short- and long-term complications. RESULTS: Fourteen cases were reviewed. In 12 patients, initial airway management was accomplished on placental support with either intubation or tracheotomy. Two vaginal births required subsequent uncomplicated oral intubation within 24 hours. Nine patients required tracheotomy (3 within the delivery suite, 2 during mass excision on day of life 6 and 24, and the remaining 4 occurred at days 29, 32, 92, and 100). Five deaths occurred, 4 within several days of birth due to complications related to the cervical teratomas and 1 on day of life 32 due to an airway-related complication. Follow-up for surviving patients ranged from 1 month to 18 years. Long-term airway complications ranged from vocal cord paralysis to stenosis requiring laryngotracheoplasty. CONCLUSION: This study demonstrates that a multidisciplinary team and a standardized approach in the operating suite have led to successful initial airway stabilization. Furthermore, this study demonstrates the need for continued airway management after delivery. Reassessment of the airway after delivery and an airway management planning meeting with the multidisciplinary team may help decrease morbidity and mortality.

Severe micrognathia: indications for EXIT-to-Airway.

The ex utero intrapartum treatment (EXIT) procedure has become an important management option in cases of fetal airway obstruction. Select cases of severe micrognathia may be candidates for EXIT-to-Airway due to high-risk of airway obstruction at birth. Here we present three successful EXIT-to-Airway procedures for the management of congenital micrognathia in its most severe manifestations. CASE 1: A 23-year-old G3P1011 with a pregnancy complicated by severe micorgnathia, jaw index <5th percentile, as well as polyhydramnios. At 36 weeks EXIT-to-Airway was performed utilizing a bronchoscopically positioned laryngeal mask airway (LMA) during 23 min of uteroplacental support followed by tracheostomy. CASE 2: A 26-year-old G4P0120 with a pregnancy complicated by severe micrognathia, jaw index <5th percentile, and an obstructed oropharynx associated with polyhydramnios. At 37 weeks EXIT-to-Airway was performed with placement of tracheostomy. CASE 3: A 36-year-old G6P3023 with fetal magnetic resonance imaging (MRI) revealing esophageal atresia, polyhydramnios, and severe micrognathia with a jaw index <5th percentile. At 35 weeks the patient underwent EXIT-to-Airway with formal tracheostomy during 35 min of uteroplacental bypass. In the most severe cases of fetal micrognathia, EXIT-to-Airway provides time to evaluate and secure the fetal airway prior to delivery. We propose indications for EXIT-to-Airway in micrognathia to include a jaw index <5%, with indirect evidence of aerodigestive tract obstruction such as polyhydramnios, glossoptosis or an absent stomach bubble.

Developmental aspects of the upper airway: report from an NHLBI Workshop, March 5-6, 2009.

The upper airway serves three important functions: respiration, swallowing, and speech. During development it undergoes significant structural and functional changes that affect its size, shape, and mechanical properties. Abnormalities of the upper airway require prompt attention, because these often alter ventilatory patterns and gas exchange, particularly during sleep when upper airway motor tone and ventilatory drive are diminished. Recognizing the relationship of early life events to lung health and disease, the National Heart, Lung, and Blood Institute (NHLBI), with cofunding from the Office of Rare Diseases (ORD), convened a workshop of extramural experts, from many disciplines. The objective of the workshop was: (1) to review the state of science in pediatric upper airway disorders; (2) to make recommendations to the Institute to fill knowledge gaps; (3) to prioritize new research directions; and (4) to capitalize on scientific opportunities. This report provides recommendations that could facilitate translation of basic research findings into practice to better diagnose, treat, and prevent airway compromise in children.