Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.

BACKGROUND: Otitis media (OM) susceptibility has significant heritability; however, the role of rare variants in OM is mostly unknown. Our goal is to identify novel rare variants that confer OM susceptibility. METHODS: We performed exome and Sanger sequencing of >1000 DNA samples from 551 multiethnic families with OM and unrelated individuals, RNA-sequencing and microbiome sequencing and analyses of swabs from the outer ear, middle ear, nasopharynx and oral cavity. We also examined protein localisation and gene expression in infected and healthy middle ear tissues. RESULTS: A large, intermarried pedigree that includes 81 OM-affected and 53 unaffected individuals cosegregates two known rare A2ML1 variants, a common FUT2 variant and a rare, novel pathogenic variant c.1682A>G (p.Glu561Gly) within SPINK5 (LOD=4.09). Carriage of the SPINK5 missense variant resulted in increased relative abundance of Microbacteriaceae in the middle ear, along with occurrence of Microbacteriaceae in the outer ear and oral cavity but not the nasopharynx. Eight additional novel SPINK5 variants were identified in 12 families and individuals with OM. A role for SPINK5 in OM susceptibility is further supported by lower RNA counts in variant carriers, strong SPINK5 localisation in outer ear skin, faint localisation to middle ear mucosa and eardrum and increased SPINK5 expression in human cholesteatoma. CONCLUSION: SPINK5 variants confer susceptibility to non-syndromic OM. These variants potentially contribute to middle ear pathology through breakdown of mucosal and epithelial barriers, immunodeficiency such as poor vaccination response, alteration of head and neck microbiota and facilitation of entry of opportunistic pathogens into the middle ear.

Dr Byron J. Bailey: The Life and Legacy of an Educator, Humanitarian, and Leader.

Dr Byron J. Bailey, a preeminent figure in the field of Otolaryngology, exemplified an unwavering commitment to patient care, resident education, research excellence, and humanitarian endeavors throughout his illustrious career. Born in 1934, Dr Bailey played a pivotal role in the growth and success of the Department of Otolaryngology at the University of Texas Medical Branch. A dedicated educator and researcher, he authored groundbreaking research and the seminal textbook, Bailey's Head and Neck Surgery-Otolaryngology. His leadership in major organizations and commitment to research integrity and quality are hallmarks of his career. Dr Bailey's philanthropic pursuits include improving Otolaryngology care and access in Vietnam and Cuba, and local community efforts in Galveston, Texas. His enduring legacy continues to inspire future generations of Otolaryngologists, serving as a testament to the power of perseverance and dedication to excellence in the pursuit of medical education.

Viral voices: A multi-platform analysis of tonsillectomy on social media.

OBJECTIVES: To assess the influence of social media platforms, including TikTok, Instagram, and Facebook, in shaping public perceptions about tonsillectomies and to identify the nature of the content disseminated on these platforms. METHODS: A comprehensive analysis of 1482 relevant social media posts related to tonsillectomies was conducted across major platforms, including TikTok, Instagram, and Facebook. Content was categorized based on author, topic of the post, timeframe, and overall tone. The study also compared engagement metrics across platforms. RESULTS: TikTok emerged as the most engaging platform with a mean of 3272.8 likes per post. Patients drove 61.6 % of the discourse, with 63.9 % of discussions being lifestyle oriented. Educational content constituted 12.5 % of the overall discourse. Sentiments towards the procedure were almost evenly split, with 29.4 % positive and 28.5 % negative; 92 % of the negative posts were authored by patients. CONCLUSIONS: Patients were the most common social media authors, driving the conversation and a significant portion expressing negative views. Physicians, conversely, showed a low level of social media engagement. By understanding and addressing online narratives, clinicians can offer more informed patient support, debunk myths, and provide empathetic insights, ensuring positive patient experiences in the era of digital health communication.

Short-lasting unilateral neuralgiform headache attacks with conjunctiva injection and tearing presenting as sphenoiditis.

Headaches secondary to paranasal sinus disease are a common problem in otolaryngology practice. However, short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCTs) are an extremely rare presentation of sinusitis. We report for the first time an unusual case of acute sinusitis presenting with SUNCTs-like symptoms with radiographically-proven isolated ipsilateral sphenoiditis, without any other intracranial pathologies. This case demonstrates an additional spectrum of acute sinusitis, which should be familiar to the otolaryngologist population.

Two Stacked Coins Mimicking an Esophageal Button Battery: A Case Presentation and Review of the Literature.

As button battery (BB) ingestion has become a popular topic with growing public awareness in recent years, pediatric otolaryngologists maintain a high index of suspicion for this diagnosis. Several recent reports have revealed the possibility for benign objects to masquerade as BBs, such as two coins stacked together or a coin with different metals in concentric rings. A 4-year-old female presented to the ED after unwitnessed ingestion of a foreign body. The child was reportedly seen playing with her sister's coin collection prior to the acute onset of drooling and dysphagia. She was vitally stable and without any shortness of breath, stridor, or wheezing. Plain film X-ray revealed a round, metallic object with a double density on the frontal view and beveled step-off on the lateral view at the level of the thoracic inlet. Due to high radiographic concern for BB ingestion, the patient was taken emergently to the operating room for a rigid esophagoscopy. A metallic object was seen at the thoracic inlet and removed with Magill forceps. The object was found to be two coins stuck together, with a smaller coin in the center of a larger coin mimicking the shape of a BB. The patient was discharged the next day without complication. This case highlights stacked coins as a radiologic masquerade for BBs as well as the emphasis on prompt esophagoscopy for both identification and removal. Radiographic densities alone cannot be relied upon to distinguish BBs from more innocuous objects, and esophagoscopy remains the mainstay of management for pediatric esophageal foreign bodies.

Beyond Hypoglossal Hype: Social Media Perspectives on the Inspire Upper Airway Stimulation System.

In the landscape of sleep surgery, the Inspire® Upper Airway Stimulation (UAS) device has gained prominence as an increasingly popular treatment option for obstructive sleep apnea, prompting significant discourse across social media platforms. This study explores the social media narrative of the UAS device, particularly the nature of multimedia content, author demographics, and audience engagement on Instagram, Facebook, and TikTok. Our analysis encompassed 423 public posts, revealing images (67.4%) and videos (28.1%) as the dominant content types, with over a third of posts authored by physicians. A notable 40% of posts were advertisements, whereas patient experiences comprised 34.5%. TikTok, although presenting a smaller sample size, showed a substantially higher engagement rate, with posts averaging 152.9 likes, compared with Instagram and Facebook at 32.7 and 41.2 likes, respectively. The findings underscore the need for otolaryngologists and healthcare professionals to provide clear, evidence-based information on digital platforms. Given social media's expanding role in healthcare, medical professionals must foster digital literacy and safeguard the accuracy of health information online. In this study, we concluded that maintaining an evidence-based, transparent digital dialogue for medical innovations such as the UAS device necessitates collaborative efforts among physicians, health institutions, and technology companies.

Surgical Management of Choanal Atresia: Two Classic Cases and Review of the Literature.

Choanal atresia is a rare congenital airway malformation that presents a unique surgical challenge for pediatric otolaryngologists. Here we report two classic cases of choanal atresia and examine the surgical approaches to this entity. The first case was a four-day-old female with a history of CHARGE syndrome and bilateral mixed membranous and bony choanal atresia confirmed by a CT scan. After undergoing transnasal endoscopic repair, choanal stents were placed for four weeks, and the patient was seen three months postoperatively and found to be doing well with no respiratory concerns. The second case involved a healthy three-year-old female presenting with unilateral combined membranous and bony atresia. Following successful endoscopic repair, she was seen at a three-month follow-up with no signs of restenosis. Additionally, a literature review was performed to evaluate updates since the 2012 Cochrane Review on surgical treatment of congenital choanal atresia.

An Otolaryngologist's Guide to Understanding the H-index and How It Could Affect Your Future Career.

Objectives: The h-index is a measure of research output and contribution that shows strong correlation with academic promotion in medicine. The purpose of this article is to clearly explain how h-index scores are calculated and how otolaryngologists can effectively and advantageously use these scores for their career development. Data Sources: PubMed. Review Methods: We performed an up-to-date PubMed literature review describing the design of the h-index and how to use it effectively along with its role in academic medicine, including otolaryngology. Conclusions: H-index scores are used as a metric for scientific output that considers the number of publications and the number of times each is cited. Search engines can automatically calculate h-index scores for one's work. Studies also revealed significant positive correlations that the h-index has from fellowship involvement, which could be beneficial for career advancement in academic medicine. Implications for Practice: Aspiring academic otolaryngologists should create a research profile to link and calculate the h-index for publications, submit to well-read high-impact journals for increased viewership and citations, and expand on foundational and personal research topics. Future studies should evaluate faculty and resident awareness of h-indices in the otolaryngology department to see how we can further address any underlying barriers. Otolaryngologists with the knowledge and tools necessary to maximize h-index scores and produce high-quality research in modern-day medicine not only provide potential advantages in career development but also bring significant contribution to the field of otolaryngology and patient care.

Misophonia: An Underrecognized Disease in Pediatric Patients.

Misophonia is a chronic condition in which patients experience a strong negative, emotional, or psychologic reaction to specific sounds. These sounds cause the individual to have a sudden, uncontrolled, and disproportionate negative reaction affecting their daily activities. The literature describes several cases of misophonia in the adult population; however, only 2 pediatric case studies are reported. Herein, we present 2 additional cases. An exaggerated response to an auditory stimulus is observed in other disorders such as tinnitus, hyperacusis, migraines, and many psychiatric disorders. Sound aversion has a broad differential diagnosis and may require visits to numerous specialists, placing strain on the patient and the healthcare system. Furthermore, misophonia is underdiagnosed in the pediatric population as it requires self-reporting of symptoms. The pathophysiology, prevalence, and treatment of misophonia continue to be relatively unknown. We attempt to highlight this rarely reported pediatric diagnosis and elaborate on its clinical presentation to increase awareness among otolaryngologists.

Surgeon Preference on Sending Routine Tonsillectomy Specimens for Pathological Evaluation.

INTRODUCTION: Despite the presence of a growing body of literature suggesting cost-ineffectiveness of routine pathologic analysis of tonsillectomy specimens, little is known about common institutional policies and practice patterns of pediatric otolaryngologists. The objectives of this study were to determine the prevalence of routine pathological evaluation of tonsillectomy specimens for uncomplicated pediatric adenotonsillectomy procedures and to evaluate opinions regarding this controversy among board-certified pediatric otolaryngologists. METHODS: This was a cross-sectional survey study sent to board-certified pediatric otolaryngologists currently practicing and registered with the American Society of Pediatric Otolaryngology (ASPO) assessing their institutions' or practices' current policies on sending routine tonsillectomy specimens for pathology, their experience with this practice, and their opinions on whether routine pathologic analysis should be employed. Basic statistical analysis was then conducted. RESULTS: Respondents mostly practiced in an academic setting (68.4%), with the next most common being academically affiliated private practice (21.8%), and private practice was the least common (9.8%). Most respondents (85.1%) did not agree with routine pathologic analysis of otherwise uncomplicated pediatric tonsillectomy specimens. CONCLUSION: Most pediatric otolaryngologists who responded to this survey do not support routine pathological analysis of otherwise uncomplicated pediatric tonsillectomy specimens. However, the results are likely biased and should be interpreted carefully, since only a small percentage of pediatric otolaryngologists responded to the survey. Potential cost savings could be seen by patients, payers, and hospital systems with judicious use of surgical pathology, specifically in cases with concurrent signs or symptoms suspicious for malignancy.

Labial Frenotomy for Symptomatic Isolated Upper Lip Tie.

BACKGROUND: The benefits and challenges of successful breastfeeding for both mother and child have been well-established in the literature. While ankyloglossia, or tongue tie, alone or in combination with upper lip tie has been the focus of several previous studies, very few have directly addressed isolated symptomatic upper lip tie and the role of surgical correction for breastfeeding difficulties. MATERIALS AND METHODS: Seven infants with isolated upper lip tie and breastfeeding difficulty were taken to the operating room for labial frenotomy. These infants were assessed at their follow-up visits for their degree of weight gain since their procedure. Their mothers were surveyed regarding their experiences with breastfeeding since the frenotomy was performed. RESULTS: In this article, we present seven infants with isolated upper lip tie and breastfeeding difficulty who were treated with labial frenotomy. Subsequently, these infants demonstrated improved weight gain, and all mothers reported increased ease of breastfeeding. CONCLUSION: These findings implicate lip tie as an underrecognized cause of breastfeeding difficulty and suggest that labial frenotomy is an effective treatment in these patients. Larger-scale randomized controlled studies are necessary to further evaluate this topic.

Bilateral Cervical Pilomatricoma: A Diagnostic Dilemma for the Pediatric Otolaryngologist.

Pilomatricomas are benign skin tumors often encountered by otolaryngologists but frequently misdiagnosed. Although they can occur at any age, they commonly present in children as a discolored superficial lesion adhered to the overlying skin. Accurate preoperative diagnosis is crucial for appropriate management, which is surgical in most cases. Here, we present bilateral pilomatricomas mimicking features of several other diagnoses in a pediatric patient. The patient was successfully treated with surgical excision. This case presented a unique diagnostic challenge, as the lesions exhibited features of several common diagnoses. In general, surgical management of pilomatricoma is curative, and recurrence is rare.

Trending Tubes: A Social Media Analysis of Tympanostomy Tubes in Children.

Objective: To investigate the popular social media platforms Instagram and Facebook for public posts related to tympanostomy tubes in children, to discern attitudes and perceptions surrounding tympanostomy tubes, and to evaluate the content of social media posts related to tympanostomy tubes. Study Design: Qualitative study. Setting: Instagram and Facebook social media platforms. Methods: Instagram and Facebook were searched for public posts from 2018 and 2019 including the search terms "ear tubes,""ear tube surgery,""tympanostomy," and "myringotomy." Posts were excluded if they were unrelated to pediatric tympanostomy tubes or written in a non-English language. Relevant posts underwent subgroup analysis based on 6 domains: media type, perspective, topic, timeframe, popularity, and overall tone. Results: Of 1862 public social media posts, the majority (78.2%) were made by the patient's parents/caregivers and the rest by physicians (6.0%), hospitals (8.2%), and chiropractors (6.1%), with a few posts by the patients themselves (0.4%). The majority (79.3%) of posts portrayed tympanostomy tubes positively. Most negative posts were made by chiropractors (50.8%) and the patient's parents/caregivers (42.9%). The most common themes of posts were reassurance regarding surgery (74.9%), advertisements (12.5%), apprehension (12.4%), and education (10.3%). Conclusion: Most social media posts were made by parents/caregivers in the perioperative period, and there was a low percentage of educational posts. This information could be used by otolaryngologists to optimize their interactions with patients and parents and to potentially increase physician involvement and educational material related to tympanostomy tubes on social media.

The Iron Henry: How One Sword Swallower Advanced Modern Medicine.

Sword swallowing is an ancient skill that was developed by the fakirs of India and slowly permeated the globe leading up to the late 19th century. Its rise as a popular circus act in Europe coincided with the surge of inventive young minds in the medical community. This crossroad brought about a working relationship between Dr Adolf Kussmaul and a sword swallower named the "Iron Henry." Together, they developed a scope that could be passed through the esophagus for evaluation of disease states from the upper aerodigestive tract all the way to the antrum of the stomach. The unique abilities refined by years of sword swallowing were vital in the work to develop and perform the first successful esophagoscopy and then disseminate the technology. This story should not be forgotten and can give insight into how historical practices and modern invention can come together to great effect.

Apnea-hypopnea index severity as an independent predictor of post-tonsillectomy respiratory complications in pediatric patients: A retrospective study.

INTRODUCTION: Despite the presence of clinical practice guidelines for overnight admission of pediatric patients following adenotonsillectomy, variance in practice patterns exists between pediatric otolaryngologists. The purpose of this study is to examine severity of apnea-hypopnea index (AHI) as an independent predictor of postoperative respiratory complications in children undergoing adenotonsillectomy. METHODS: Retrospective chart review of all children undergoing adenotonsillectomy at a large tertiary referral center between January 2015 and December 2019 who underwent preoperative polysomnography and were admitted for overnight observation. Charts were reviewed for total adverse events and respiratory events occurring during admission. RESULTS: Overall, respiratory events were seen in 50.6% of patients with AHI ≥10 and in 39.6% of patients with AHI <10. The overall mean AHI was 19.2, with a mean of 28.1 in the AHI ≥10 subgroup vs 4.6 in the AHI <10 subgroup. There was no statistical correlation or increased risk between an AHI ≥10 and having a pure respiratory event, with a relative risk of 1.19 (.77-1.83, P = .43). There was a statistically significant difference between the mean AHI of those with any adverse event and those without (21.6 vs 13.4, P = .008). There is additionally an increased risk of any event with an AHI over 10, with a relative risk of 1.51 (1.22-1.88, P < .0001). CONCLUSION: Preoperative AHI of 10 events per hour was not a predictor of postoperative respiratory complications. However, there was a trend for those with a higher AHI requiring additional supportive measures or a prolonged stay. Practitioners should always use their best judgment in deciding whether a child warrants postoperative admission following adenotonsillectomy.

The role of CDHR3 in susceptibility to otitis media.

Otitis media (OM) is common in young children and can cause hearing loss and speech, language, and developmental delays. OM has high heritability; however, little is known about OM-related molecular and genetic processes. CDHR3 was previously identified as a locus for OM susceptibility, but to date, studies have focused on how the CDHR3 p.Cys529Tyr variant increases epithelial binding of rhinovirus-C and risk for lung or sinus pathology. In order to further delineate a role for CDHR3 in OM, we performed the following: exome sequencing using DNA samples from OM-affected individuals from 257 multi-ethnic families; Sanger sequencing, logistic regression and transmission disequilibrium tests for 407 US trios or probands with OM; 16S rRNA sequencing and analysis for middle ear and nasopharyngeal samples; and single-cell RNA sequencing and differential expression analyses for mouse middle ear. From exome sequence data, we identified a novel pathogenic CDHR3 splice variant that co-segregates with OM in US and Finnish families. Additionally, a frameshift and six missense rare or low-frequency variants were identified in Finnish probands. In US probands, the CDHR3 p.Cys529Tyr variant was associated with the absence of middle ear fluid at surgery and also with increased relative abundance of Lysobacter in the nasopharynx and Streptomyces in the middle ear. Consistent with published data on airway epithelial cells and our RNA-sequence data from human middle ear tissues, Cdhr3 expression is restricted to ciliated epithelial cells of the middle ear and is downregulated after acute OM. Overall, these findings suggest a critical role for CDHR3 in OM susceptibility. KEY MESSAGES: • Novel rare or low-frequency CDHR3 variants putatively confer risk for otitis media. • Pathogenic variant CDHR3 c.1653 + 3G > A was found in nine families with otitis media. • CDHR3 p.Cys529Tyr was associated with lack of effusion and bacterial otopathogens. • Cdhr3 expression was limited to ciliated epithelial cells in mouse middle ear. • Cdhr3 was downregulated 3 h after infection of mouse middle ear.

Efficacy of a Pediatric Sleep Questionnaire for the Diagnosis of Obstructive Sleep Apnea in Children.

BACKGROUND: Obstructive sleep apnea (OSA) is a source of significant morbidity in children. Polysomnography (PSG), the gold standard diagnostic tool for OSA, is often unavailable due to patient financial and geographic constraints. Our objective is to analyze the relationship between a patient's subjective complaints and the results from their PSG to determine the diagnostic value of the Pediatric Sleep Questionnaire (PSQ) for detecting OSA in children. METHODS: A retrospective chart review was conducted for pediatric patients with suspected OSA from March 2012 to January 2014. Preoperative PSQ scores were compared with the results from PSG in the form of Apnea-Hypopnea Index (AHI) and Respiratory Disturbance Index (RDI) values. AHI and RDI values ranging from 1 to 5 were classified as mild OSA while values ranging from 5 to 10 were classified as moderate OSA. RESULTS: A total of 161 patients were recruited for this study with 63 patients (39%) both completing the PSQ and undergoing PSG. Sensitivity of the positive questionnaire was higher in patients with AHI and RDI values indicative of moderate OSA (95% and 100% respectively) versus values indicative of mild OSA (83% and 86% respectively). Conversely, the positive predictive value of the positive questionnaire (n=49) was lower in patients with AHI and RDI values indicative of moderate OSA (39% and 46% respectively) versus values indicative of mild OSA (70% and 80% respectively). CONCLUSION: The PSQ has high diagnostic value for screening patients with suspected OSA. We recommend the use of the PSQ in the primary care setting for children with suspected OSA.

Multi-omic studies on missense PLG variants in families with otitis media.

Otitis media (OM), a very common disease in young children, can result in hearing loss. In order to potentially replicate previously reported associations between OM and PLG, exome and Sanger sequencing, RNA-sequencing of saliva and middle ear samples, 16S rRNA sequencing, molecular modeling, and statistical analyses including transmission disequilibrium tests (TDT) were performed in a multi-ethnic cohort of 718 families and simplex cases with OM. We identified four rare PLG variants c.112A > G (p.Lys38Glu), c.782G > A (p.Arg261His), c.1481C > T (p.Ala494Val) and c.2045 T > A (p.Ile682Asn), and one common variant c.1414G > A (p.Asp472Asn). However TDT analyses for these PLG variants did not demonstrate association with OM in 314 families. Additionally PLG expression is very low or absent in normal or diseased middle ear in mouse and human, and salivary expression and microbial α-diversity were non-significant in c.1414G > A (p.Asp472Asn) carriers. Based on molecular modeling, the novel rare variants particularly c.782G > A (p.Arg261His) and c.2045 T > A (p.Ile682Asn) were predicted to affect protein structure. Exploration of other potential disease mechanisms will help elucidate how PLG contributes to OM susceptibility in humans. Our results underline the importance of following up findings from genome-wide association through replication studies, preferably using multi-omic datasets.

Preventing unnecessary tympanostomy tube placement in children.

OBJECTIVE: In 2013 the American Academy of Otolaryngology published tympanostomy tube guidelines for children; Action Statement 6 recommends against tube placement without middle ear effusion (MEE) at time of assessment. To date, little research has directly evaluated this recommendation in reducing the need for ear tubes. We evaluated the effectiveness of this recommendation and potential risk factors that influence the success of watchful waiting. METHODS: Retrospective chart review collecting demographics, daycare status, smoking exposure, and time of year of visit. Children aged 6 months to 12 years without MEE on presentation, but with 3 or more episodes of acute otitis media (AOM) in 6 months or 4 or more episodes in 12 months, were assigned to watchful waiting (WW) treatment. These patients were followed every 4 months or returned sooner with additional infections. Any continued AOM, or MEE on follow up leading to tube placement, defined WW failure. RESULTS: 123 patients met criteria, with 81 still in WW to date (66% success rate). 42 children failed WW and received tympanostomy tubes (34% failure rate). There were no statistically significant associations between age, race, gender, smoking exposure, daycare, or month of presentation between children who failed WW compared to children receiving tubes. CONCLUSIONS: Tympanostomy tube guidelines mitigate unnecessary tube placement in a majority of children with recurrent AOM without MEE. To our knowledge, this is the first study supporting the 2013 recommendations, with a 66% success rate. Additionally, no significant associations between modifying risk factors in those who failed watchful waiting were identified.

Unexplained destructive nasal lesions in half-brothers: A possible case of Munchausen syndrome by proxy.

Munchausen syndrome by proxy (MSBP) is a condition diagnosed when a caregiver knowingly fabricates or inflicts illness on another for his/her own gain. Typical cases of MSBP detected by otolaryngologists involve facial trauma or otologic injury, while descriptions involving the nose are rare. Destructive nasal lesions have a broad differential diagnosis and may require visits to numerous specialists, placing strain on both the patient and the healthcare system. Early recognition of MSBP in patients with chronic nasal destruction may prevent such unnecessary strain. We present a case of MSBP involving two half-brothers with unexplainable nasal destruction and discuss the literature and current recommendations for managing the diagnosis.