Management of Dog-Related Penetrating Laryngotracheal Trauma in a Pediatric Patient.

Dog-bite-related laryngotracheal injuries are rare but can be life-threatening. We present a case of penetrating laryngotracheal trauma in a six-year-old male and the management, considerations, and outcomes. The patient suffered extensive laryngotracheal trauma, including near complete tracheal transection, complete thyroid cartilage fracture, crush injury to the cricoid, and multiple tracheal perforations after a dog attack. We review initial management, subsequent airway interventions, multi-disciplinary approach, and airway outcomes. We present one of the few reports describing extensive dog-related penetrating laryngotracheal trauma in a pediatric patient, with successful airway management.

The case for intra-operative X-ray in cochlear implantation: Four illustrative cases and literature review.

OBJECTIVES: To demonstrate the utility of routine intraoperative plain film imaging in optimizing outcomes in cochlear implantation. INTRODUCTION: Evolving surgical techniques, programming, and electrode arrays have all improved performance outcomes in cochlear implantation. Yet despite decreasing complication rates, electrode misplacement remains a common occurrence. Utilization of intraoperative confirmational tools (radiologic, electrophysiologic) remains unstandardized despite the acknowledged importance of proper electrode positioning. The purpose of this article is to illustrate the use and benefits of intraoperative X-ray (IOXR) in four cases, particularly in cases of normal electrophysiologic testing. METHODS: Four cases performed by an experienced CI surgeon are discussed where electrode malposition was only detected through X-ray. Literature review was performed on the use of intraoperative imaging, focusing on plain film radiography. RESULTS: Case 1-3 describe examples of resistance-free electrode insertion in patients with normal pre-operative imaging. Intraoperative impedances and neural response telemetry (NRT) were normal. However, IOXR ultimately revealed tip fold-over prompting array repositioning. Case 4 describes an elective replacement of a soft-failing device. Resistance was encountered during array insertion, with IOXR demonstrating incomplete insertion compared with prior imaging. Positioning was revised to achieve pre-revision insertion depth, demonstrating the utility of prior IOXR in revision cases. Literature review of IOXR is discussed. CONCLUSION: Appropriate placement of the electrode is paramount to successful CI outcomes. These cases illustrate IOXR as a safe, effective method to ensure optimal placement even in cases of normal electrophysiologic testing, supporting its routine use even by the most seasoned surgeons.

Otolaryngology Residency Match During the COVID-19 Pandemic.

Objective To review changes made by otolaryngology residency program directors (PDs) during the 2020-2021 National Resident Matching Program (NRMP) match cycle and describe their attitudes toward the 2021-2022 match cycle. Methods Cross-sectional study using an anonymous 31-item online survey in Research Electronic Data Capture (REDCap) with questions regarding the 2020-2021 NRMP match. This survey was distributed to 125 PDs from Accreditation Council for Graduate Medical Education (ACGME)-accredited otolaryngology residency programs. Results Thirty-three PDs responded (26.4%). Of the PDs, 78.8% had an online info-session prior to the start of the cycle, and 30.3% reported that an increased number of applicants contacted them compared to the prior cycle. There were no changes made in Step 1 criteria (72.7%), and 81.8% reported no changes in interview selection. Of the PDs, 54.5% reported interviewing more candidates. Respondents reported a decreased cancellation rate (66.7%) and cost of recruiting (87.9%); 87.9% said that they did not change the way they developed their rank order list (ROL), and 84.8% reported matching at their usual level compared to prior years. Of the respondents, 42.4% reported making a change that was an overall improvement for their program. Of the PDs, 34.4% were unsure whether they would sustain virtual interviews in 2021-2022, 25% stated that they would not incorporate virtual interviews, and 40.7% stated that they would incorporate a virtual interview in some part of the cycle. Conclusion Otolaryngology PDs approached virtual interviewing in different ways. Despite the changes made, applicants can find comfort in knowing that match outcomes were perceived as typical by a majority of PDs.

Prognostic factors in the management of pediatric subglottic stenosis.

OBJECTIVE: We report outcomes of endoscopic interventions in the management of pediatric subglottic stenosis (SGS), and factors that lead to open airway reconstruction. METHODS: A retrospective cohort review of all pediatric patients with SGS, treated by a single surgeon, at a tertiary academic medical center from 2012 to 2020 was conducted. Variables recorded included patient demographics, initial grade of stenosis, gestational age, length of intubation, comorbidities as well as total number of interventions. RESULTS: A total of 47 patients were included in the study, of which 51% (n = 24) were female. Laryngotracheal reconstruction (LTR) was performed in 49% (n = 23) of patients. Decannulation was achieved in 25 of 32 tracheostomized patients. Fifteen patients did not have tracheostomy. There was a significant difference in gestational age (28.7 ± 5.36 vs 33.2 ± 6.13), initial grade of stenosis (2.3 ± 0.82 vs 1.6 ± 0.88), and total number of interventions (5.7 ± 2.8 vs 2.3 ± 1.5) when stratifying patients proceeding to LTR versus not (p < 0.05). There was no significant difference, however, in the length of intubation between the two groups. Of the comorbidities recorded, none were found to have a significant impact on the outcome. CONCLUSION: Subglottic stenosis is a challenging condition to treat, often requiring multiple interventions including LTR. We propose a set of risk factors that may assist in the treatment of SGS patients with certain comorbidities to minimize interventions and maximize outcomes.

Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.

Giant axonal neuropathy (GAN) is an ultra-rare autosomal recessive, progressive neurodegenerative disease with early childhood onset that presents as a prominent sensorimotor neuropathy and commonly progresses to affect both the PNS and CNS. The disease is caused by biallelic mutations in the GAN gene located on 16q23.2, leading to loss of functional gigaxonin, a substrate specific ubiquitin ligase adapter protein necessary for the regulation of intermediate filament turnover. Here, we report on cross-sectional data from the first study visit of a prospectively collected natural history study of 45 individuals, age range 3-21 years with genetically confirmed GAN to describe and cross-correlate baseline clinical and functional cohort characteristics. We review causative variants distributed throughout the GAN gene in this cohort and identify a recurrent founder mutation in individuals with GAN of Mexican descent as well as cases of recurrent uniparental isodisomy. Through cross-correlational analysis of measures of strength, motor function and electrophysiological markers of disease severity, we identified the Motor Function Measure 32 to have the strongest correlation across measures and age in individuals with GAN. We analysed the Motor Function Measure 32 scores as they correspond to age and ambulatory status. Importantly, we identified and characterized a subcohort of individuals with a milder form of GAN and with a presentation similar to Charcot-Marie-Tooth disease. Such a clinical presentation is distinct from the classic presentation of GAN, and we demonstrate how the two groups diverge in performance on the Motor Function Measure 32 and other functional motor scales. We further present data on the first systematic clinical analysis of autonomic impairment in GAN as performed on a subset of the natural history cohort. Our cohort of individuals with genetically confirmed GAN is the largest reported to date and highlights the clinical heterogeneity and the unique phenotypic and functional characteristics of GAN in relation to disease state. The present work is designed to serve as a foundation for a prospective natural history study and functions in concert with the ongoing gene therapy trial for children with GAN.

Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.

A woman with ichthyosis, contractures, and progressive neuropathy represents the first case of phosphoserine aminotransferase deficiency diagnosed and treated in an adult. She has novel compound heterozygous mutations in the gene PSAT1. Treatment with high dose oral L-serine completely resolved the ichthyosis. Consideration of this diagnosis is important because early treatment with L-serine repletion can halt progression of neurodegeneration and potentially improve neurological disabilities. As exome sequencing becomes more widely implemented in the diagnostic evaluation of progressive neurodegenerative phenotypes, adult neurologists and geneticists will increasingly encounter later onset manifestations of inborn errors of metabolism classically considered in infancy and early childhood.