Diagnosis and Management of Riga-Fede Disease: A Case Series.

In this case series, we present four unique cases of Riga-Fede disease (RFD), a rare disorder characterized by mucosal trauma as a result of repetitive tongue protrusion against the incisors, leading to the development of a large oral mass/ulceration. Due to the rapid development and growth of these lesions mimicking malignancy, it is important for the general and pediatric otolaryngologist to correctly diagnose and treat this benign disorder. This series highlights the variable clinical presentations, along with comorbidities of RFD, as well as the importance of interdisciplinary care between the pediatric otolaryngologist and pediatric dentist in its management. Laryngoscope, 2024.

TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.

OBJECTIVE: Distinct dominant mutations in the calcium-permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically cause nonoverlapping diseases of either the neuromuscular or skeletal systems. However, accumulating evidence suggests that some patients develop mixed phenotypes that include elements of both neuromuscular and skeletal disease. We sought to define the genetic and clinical features of these patients. METHODS: We report a 2-year-old with a novel R616G mutation in TRPV4 with a severe neuropathy phenotype and bilateral vocal cord paralysis. Interestingly, a different substitution at the same residue, R616Q, has been reported in families with isolated skeletal dysplasia. To gain insight into clinical features and potential genetic determinants of mixed phenotypes, we perform in-depth analysis of previously reported patients along with functional and structural assessment of selected mutations. RESULTS: We describe a wide range of neuromuscular and skeletal manifestations and highlight specific mutations that are more frequently associated with overlap syndromes. We find that mutations causing severe, mixed phenotypes have an earlier age of onset and result in more marked elevations of intracellular calcium, increased cytotoxicity, and reduced sensitivity to TRPV4 antagonism. Structural analysis of the two mutations with the most dramatic gain of ion channel function suggests that these mutants likely cause constitutive channel opening through disruption of the TRPV4 S5 transmembrane domain. INTERPRETATION: These findings demonstrate that the degree of baseline calcium elevation correlates with development of mixed phenotypes and sensitivity to pharmacologic channel inhibition, observations that will be critical for the design of future clinical trials for TRPV4 channelopathies.

A low-cost educational intervention to reduce unplanned extubation in low-resourced pediatric intensive care units.

INTRODUCTION: Unplanned extubation (UE) is orders of magnitude worse in low-income Pediatric Intensive Care Units (PICUs) than their high-income counterparts. Furthermore, a significant percent (20 %) of UEs result in a destabilizing event or cardiac collapse that negatively contributes to morbidity and mortality. As the principles of safe airway management are universal, we hypothesize that a multi-disciplinary educational intervention bundle which included provision of low-cost cuffed endotracheal tubes (ETT) and ETT tape will decrease the rate of unplanned extubation (UE) in a low-resourced PICU. METHODS: This is a pre-post interventional study powered to evaluate UE of intubated pediatric patients in an El Salvadorian PICU after a multi-disciplinary educational effort and provision of low-cost disposable materials. A multidisciplinary (otolaryngologists, intensivists, anesthesiologists, respiratory therapists, and nurses) educational curriculum involving hands on training, online video modules readily available via bedside QR codes, and pre- and post-testing was administered. The cost of the intervention materials was $1.32 per child. PICU mortality was evaluated as an exploratory outcome. RESULTS: Nine-hundred and fifty-seven (859 pre-intervention and 98 post-intervention) patients met inclusion criteria. Patients with one or more UEs decreased significantly from 29.4 % to 17.3 % post-intervention (p = 0.01; CI: 0.28-0.88) with an odds ratio of 0.51. The use of a cuffed ETT increased from 12 % to 36 % (p < 0.001; CI: 0.17-0.44; OR:3.74) and cuffed ETT use was associated with a reduction in UE with an odds ratio of 0.40 (p < 0.001; CI: 0.24-0.66). Finally, there was a 4.3 % decrease in pediatric mortality from 26.7 % to 22.4 % that equates to a number needed to treat to prevent a single child mortality of 23. Therefore, the ICER per mortality prevented is $30.7 and the ICER per Disability Adjusted Life Year (DALY) is $0.44. CONCLUSION: This multi-faceted intervention bundle is an accessible, scalable, cost-effective means to reduce UE and has implications in reducing global pediatric mortality.

Machine Learning for Accurate Intraoperative Pediatric Middle Ear Effusion Diagnosis.

OBJECTIVES: Misdiagnosis of acute and chronic otitis media in children can result in significant consequences from either undertreatment or overtreatment. Our objective was to develop and train an artificial intelligence algorithm to accurately predict the presence of middle ear effusion in pediatric patients presenting to the operating room for myringotomy and tube placement. METHODS: We trained a neural network to classify images as " normal" (no effusion) or "abnormal" (effusion present) using tympanic membrane images from children taken to the operating room with the intent of performing myringotomy and possible tube placement for recurrent acute otitis media or otitis media with effusion. Model performance was tested on held-out cases and fivefold cross-validation. RESULTS: The mean training time for the neural network model was 76.0 (SD ± 0.01) seconds. Our model approach achieved a mean image classification accuracy of 83.8% (95% confidence interval [CI]: 82.7-84.8). In support of this classification accuracy, the model produced an area under the receiver operating characteristic curve performance of 0.93 (95% CI: 0.91-0.94) and F1-score of 0.80 (95% CI: 0.77-0.82). CONCLUSIONS: Artificial intelligence-assisted diagnosis of acute or chronic otitis media in children may generate value for patients, families, and the health care system by improving point-of-care diagnostic accuracy. With a small training data set composed of intraoperative images obtained at time of tympanostomy tube insertion, our neural network was accurate in predicting the presence of a middle ear effusion in pediatric ear cases. This diagnostic accuracy performance is considerably higher than human-expert otoscopy-based diagnostic performance reported in previous studies.

A Sustainable and Scalable Multidisciplinary Airway Teaching Mission: The Operation Airway 10-Year Experience.

OBJECTIVE: To address whether a multidisciplinary team of pediatric otolaryngologists, anesthesiologists, pediatric intensivists, speech-language pathologists, and nurses can achieve safe and sustainable surgical outcomes in low-resourced settings when conducting a pediatric airway surgical teaching mission that features a program of progressive autonomy. STUDY DESIGN: Consecutive case series with chart review. SETTING: This study reviews 14 consecutive missions from 2010 to 2019 in Ecuador, El Salvador, and the Dominican Republic. METHODS: Demographic data, diagnostic and operative details, and operative outcomes were collected. A country's program met graduation criteria if its multidisciplinary team developed the ability to autonomously manage the preoperative huddle, operating room discussion and setup, operative procedure, and postoperative multidisciplinary pediatric intensive care unit and floor care decision making. This was assessed by direct observation and assessment of surgical outcomes. RESULTS: A total of 135 procedures were performed on 90 patients in Ecuador (n = 24), the Dominican Republic (n = 51), and El Salvador (n = 39). Five patients required transport to the United States to receive quaternary-level care. Thirty-six laryngotracheal reconstructions were completed: 6 single-stage, 12 one-and-a-half-stage, and 18 double-stage cases. We achieved a decannulation rate of 82%. Two programs (Ecuador and the Dominican Republic) met graduation criteria and have become self-sufficient. No mortalities were recorded. CONCLUSION: This is the largest longitudinal description of an airway reconstruction teaching mission in low- and middle-income countries. Airway reconstruction can be safe and effective in low-resourced settings with a thoughtful multidisciplinary team led by local champions.

Comparison of Ibuprofen vs Acetaminophen and Severe Bleeding Risk After Pediatric Tonsillectomy: A Noninferiority Randomized Clinical Trial.

Importance: Ibuprofen is an effective analgesic after tonsillectomy alone or tonsillectomy with adenoidectomy, but concerns remain about whether it increases postoperative hemorrhage. Objective: To investigate the effect of ibuprofen compared with acetaminophen on posttonsillectomy bleeding (PTB) requiring surgical intervention in children. Design, Setting, and Participants: A multicenter, randomized, double-blind noninferiority trial was conducted at 4 tertiary medical centers (Massachusetts Eye and Ear Infirmary, Boston; Naval Medical Center, San Diego, California; Naval Medical Center, Portsmouth, Virginia; Madigan Army Medical Center, Tacoma, Washington). A total of 1832 children were assessed for eligibility (presence of sleep-disordered breathing or obstructive sleep apnea, adenotonsillar hypertrophy, or infectious tonsillitis undergoing extracapsular tonsillectomy by electrocautery). Of these, 1091 were excluded because they did not meet eligibility criteria (n = 681) or refused to participate (n = 410); thus, 741 children aged 2 to 18 years undergoing tonsillectomy alone or tonsillectomy with adenoidectomy were enrolled between May 3, 2012, and January 20, 2017. Interventions: Participants were randomized to receive ibuprofen, 10 mg/kg (n = 372), or acetaminophen, 15 mg/kg (n = 369), every 6 hours for the first 9 postoperative days. Main Outcomes and Measures: Rate and severity of posttonsillectomy bleeding were recorded using a postoperative bleeding severity scale: type 1 (bleeds that were observed at home or evaluated in the emergency department without further intervention), type 2 (bleeds that required readmission for observation), and type 3 (bleeds that required a return to the operating room for control of hemorrhage). Type 3 bleeding was the main outcome measure. The noninferiority margin was set at 3%, and modified intention-to-treat analysis was used. Results: Of the 741 children enrolled, 688 children (92.8%) (median [interquartile range] age, 5 [4] years; 366 boys [53.2%]) received the study medication and were included in a modified intention-to-treat analysis. The rate of bleeding requiring operative intervention was 1.2% in the acetaminophen group and 2.9% in the ibuprofen group (difference, 1.7%; 97.5% CI upper limit, 3.8%; P = .12 for noninferiority). There were no significant adverse events or deaths. Conclusions and Relevance: This study could not exclude a higher rate of severe bleeding in children receiving ibuprofen after tonsillectomy alone or tonsillectomy with adenoidectomy. This finding should be considered when selecting a postoperative analgesic regimen. Further studies are needed to understand if bleeding risk is affected when ibuprofen is used for a shorter duration or in combination with acetaminophen for postoperative analgesia. Trial Registration: ClinicalTrials.gov identifier: NCT01605903.

Button battery ingestion in children.

PURPOSE OF REVIEW: As the demand for small electronics continues to grow so does the risk of oesophageal ingestion of button batteries. These small but powerful sources of energy are ubiquitous in every household and when swallowed, especially in small children, have been shown to create significant injury in a short amount of time leading to long-term morbidity and possible death. This review highlights the latest findings regarding epidemiology, pathophysiology, diagnosis and management of ingested button batteries. RECENT FINDINGS: Updated epidemiology from the National Capital Poison Center, new bench research looking at injury patterns and possible mitigation strategies, updated ideas on management algorithms including the use of a trauma protocol, close-look second endoscopy and management of button batteries in the lower gastrointestinal tract are reviewed in this paper. SUMMARY: Despite advances in the understanding of injury mechanics and innovations leading to early diagnosis and improved management of button battery ingestion, parental and provider education remain the most important tools to keep children well tolerated from the sequelae of these potentially fatal events. Collaboration between healthcare experts, public health and industry is essential to find a safe answer to this ongoing threat.

Cornelia de Lange syndrome: What every otolaryngologist should know.

Cornelia de Lange Syndrome (CdLS) can be expressed in multiple organ systems requiring a variety of specialists, including pediatric otolaryngology. We present the case of a 20-month-old boy with CdLS actively managed by an aerodigestive team consisting of pediatric otolaryngology, pediatric pulmonology, pediatric gastroenterology, with support staff from audiology, speech, and nutrition. His presentation included mixed hearing loss, dysphagia, microaspiration, gastroesophageal reflux, and failure to thrive. We submit this challenging case of CdLS with a review of the literature to focus specific attention on the otolaryngic manifestations of the syndrome and to discuss the benefits of a multidisciplinary approach to these unique patients.

Use of a Novel Airway Kit and Simulation in Resident Training on Emergent Pediatric Airways.

Objective Development of a novel pediatric airway kit and implementation with simulation to improve resident response to emergencies with the goal of improving patient safety. Methods Prospective study with 9 otolaryngology residents (postgraduate years 1-5) from our tertiary care institution. Nine simulated pediatric emergency airway drills were carried out with the existing system and a novel portable airway kit. Response times and time to successful airway control were noted with both the extant airway system and the new handheld kit. Results were analyzed to ensure parametric data and compared with t tests. A Bonferroni adjustment indicated that an alpha of 0.025 was needed for significance. Results Use of the airway kit significantly reduced the mean time of resident arrival by 47% ( P = .013) and mean time of successful intubation by 50% ( P = .007). Survey data indicated 100% improved resident comfort with emergent airway scenarios with use of the kit. Discussion Times to response and meaningful intervention were significantly reduced with implementation of the handheld airway kit. Use of simulation training to implement the new kit improved residents' comfort and airway skills. This study describes an affordable novel mobile airway kit and demonstrates its ability to improve response times. Implications for Practice The low cost of this airway kit makes it a tenable option even for smaller hospitals. Simulation provides a safe and effective way to familiarize oneself with novel equipment, and, when possible, realistic emergent airway simulations should be used to improve provider performance.

Identifying predictive factors for long-term complications following button battery impactions: A case series and literature review.

OBJECTIVES: To complement a case series review of button battery impactions managed at our single military tertiary care center with a thorough literature review of laboratory research and clinical cases to develop a protocol to optimize patient care. Specifically, to identify predictive factors of long-term complications which can be used by the pediatric otolaryngologist to guide patient management after button battery impactions. METHODS: A retrospective review of the Department of Defense's electronic medical record systems was conducted to identify patients with button battery ingestions and then characterize their treatment course. A thorough literature review complemented the lessons learned to identify potentially predictive clinical measures for long-term complications. RESULTS: Eight patients were identified as being treated for button battery impaction in the aerodigestive tract with two sustaining long-term complications. The median age of the patients treated was 33 months old and the median estimated time of impaction in the aerodigestive tract prior to removal was 10.5 h. Time of impaction, anatomic direction of the battery's negative pole, and identifying specific battery parameters were identified as factors that may be employed to predict sequelae. CONCLUSION: Based on case reviews, advancements in battery manufacturing, and laboratory research, there are distinct clinical factors that should be assessed at the time of initial therapy to guide follow-up management to minimize potential catastrophic sequelae of button battery ingestion.

The otolaryngologic manifestations of Sotos syndrome.

OBJECTIVE: Soto's syndrome is a genetic disorder caused by mutations in the NSD1 gene. It is characterized by excessive growth in early life. It features craniofacial abnormalities, developmental delay, hypotonia and advanced bone age. A review of the current literature reveals only chronic otitis media and conductive hearing loss as otolaryngologic manifestations of Soto's syndrome. Our objective was to determine if there are additional manifestations relevant to the otolaryngologist. METHODS: We performed a retrospective case series in which the Department of Defense electronic medical record was searched for ICD 9 code 253.0 (acromegaly/gigantism). Records were reviewed for genetic testing indicative of Soto's syndrome. These records were further analyzed for evidence of otolaryngologic problems. RESULTS: Seventeen patients were identified with five having confirmed NSD1 mutations consistent with Soto's syndrome. Of these, 4/5 had otolaryngologic problems such as conductive hearing loss, aspiration, laryngomalacia, obstructive sleep apnea and sensorineural hearing loss. CONCLUSIONS: Currently there is no description in the literature of these additional manifestations of Soto's syndrome. We present this case series to support the idea that an otolaryngologist should be involved in the multidisciplinary care required for these patients.

Perioperative dexamethasone administration and risk of bleeding following tonsillectomy in children: a randomized controlled trial.

CONTEXT: Corticosteroids are commonly given to children undergoing tonsillectomy to reduce postoperative nausea and vomiting; however, they might increase the risk of perioperative and postoperative hemorrhage. OBJECTIVE: To determine the effect of dexamethasone on bleeding following tonsillectomy in children. DESIGN, SETTING, AND PATIENTS: A multicenter, prospective, randomized, double-blind, placebo-controlled study at 2 tertiary medical centers of 314 children aged 3 to 18 years undergoing tonsillectomy without a history of bleeding disorder or recent corticosteroid medication use and conducted between July 15, 2010, and December 20, 2011, with 14-day follow-up. We tested the hypothesis that dexamethasone would not result in 5% more bleeding events than placebo using a noninferiority statistical design. INTERVENTION: A single perioperative dose of dexamethasone (0.5 mg/kg; maximum dose, 20 mg), with an equivalent volume of 0.9% saline administered to the placebo group. MAIN OUTCOME MEASURES: Rate and severity of posttonsillectomy hemorrhage in the 14-day postoperative period using a bleeding severity scale (level I, self-reported or parent-reported postoperative bleeding; level II, required inpatient admission for postoperative bleeding; or level III, required reoperation to control postoperative bleeding). RESULTS: One hundred fifty-seven children (median [interquartile range] age, 6 [4-8] years) were randomized into each study group, with 17 patients (10.8%) in the dexamethasone group and 13 patients (8.2%) in the placebo group reporting bleeding events. In an intention-to-treat analysis, the rates of level I bleeding were 7.0% (n = 11) in the dexamethasone group and 4.5% (n = 7) in the placebo group (difference, 2.6%; upper limit 97.5% CI, 7.7%; P for noninferiority = .17); rates of level II bleeding were 1.9% (n = 3) and 3.2% (n = 5), respectively (difference, -1.3%; upper limit 97.5% CI, 2.2%; P for noninferiority < .001); and rates of level III bleeding were 1.9% (n = 3) and 0.6% (n = 1), respectively (difference, 1.3%; upper limit 97.5% CI, 3.8%; P for noninferiority = .002). CONCLUSIONS: Perioperative dexamethasone administered during pediatric tonsillectomy was not associated with excessive, clinically significant level II or III bleeding events based on not having crossed the noninferior threshold of 5%. Increased subjective (level I) bleeding events caused by dexamethasone could not be excluded because the noninferiority threshold was crossed. TRIAL REGISTRATION: clinicaltrials.gov Identifier: NCT01415583.

Direct laryngoscopy and rigid bronchoscopy.

Laryngoscopy and rigid bronchoscopy represent a necessary tool in the otolaryngologist's arsenal. The advancement in designing smaller and more versatile laryngeal equipment and fiber-optic telescopes as well as the increasingly higher resolution of still and video imagery have allowed otolaryngologists to better diagnose and treat many airway lesions. This chapter describes the basic equipment necessary as well step-by-step description of the technique to perform rigid airway endoscopy.

Pediatric tracheotomy.

The procedure of tracheotomy dates back to ancient times. Its use has been adapted in the neonatal and pediatric population over the past half-century. Despite being a life-saving measure, tracheotomy-related mortality rates range from 0.5 to 3.6%, and this procedure is not without significant and sometimes frequent complications. Techniques regarding pediatric tracheotomy vary from surgeon to surgeon and include orientation of skin incision, removal of subcutaneous tissue, orientation of tracheotomy, maturation and stay sutures, as well postoperative care and surveillance. In this chapter, the authors detail their technique for tracheotomy. Surgical pearls for success are highlighted.

Laryngotracheal reconstruction.

Laryngotracheal reconstruction (LTR) along with cricotracheal resection and thyrotracheal anastomosis has become the standard of care for symptomatic subglottic stenosis in the pediatric age group. Success rates in achieving decannulation or avoiding tracheotomy approach 90%. Fearon and Cotton introduced pediatric LTR in 1972 using cartilage interposition grafting. The procedure has evolved to include a variety of techniques for expanding the laryngotracheal complex to obtain a stable airway of sufficient size for respiration. In this chapter, the authors will describe their single and double-stage technique for LTR highlighting surgical pearls necessary for success.

Costal cartilage harvest.

Cartilage interposition grafting for treatment of subglottic stenosis was pioneered by Fearon and Cotton in 1972. Costal cartilage is the preferred source for graft material in most cases. In this section, the authors highlight the surgical technique for cartilage graft harvest with discussion of surgical pearls necessary for success.