Surgery for Velopharyngeal Insufficiency Following Cleft Palate Repair: An Audit of Contemporary Practice and Proposed Schema of Techniques and Variations.

OBJECTIVE: Surgical treatment of velopharyngeal insufficiency (VPI) includes a wide array of procedures. The purpose of this study was to develop a classification for VPI procedures and to describe variations in how they are performed.Design/participants/setting/outcomes: We completed an in-depth review of the literature to develop a preliminary schema that encompassed existing VPI procedures. Forty-one cleft surgeons from twelve hospitals across the USA and Canada reviewed the schema and either confirmed that it encompassed all VPI procedures they performed or requested additions. Two surgeons then observed the conduct of the procedures by surgeons at each hospital. Standardized reports were completed with each visit to further explore the literature, refine the schema, and delineate the common and unique aspects of each surgeon's technique. RESULTS: Procedures were divided into three groups: palate-based surgery; pharynx-based surgery; and augmentation. Palate-based operations included straight line mucosal incision with intravelar veloplasty, double-opposing Z-plasty, and palate lengthening with buccal myomucosal flaps. Many surgeons blended maneuvers from these three techniques, so a more descriptive schema was developed classifying the maneuvers employed on the oral mucosa, nasal mucosa, and muscle. Pharynx-based surgery included pharyngeal flap and sphincter pharyngoplasty, with variations in design for each. Augmentation procedures included palate and posterior wall augmentation. CONCLUSIONS: A comprehensive schema for VPI procedures was developed incorporating intentional adaptations in technique. There was substantial variation amongst surgeons in how each procedure was performed. The schema may enable more specific evaluations of surgical outcomes and exploration of the mechanisms through which these procedures improve speech.

Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.

PURPOSE: PIK3CA-related overgrowth spectrum (PROS) conditions of the head and neck are treatment challenges. Traditionally, these conditions require multiple invasive interventions, with incomplete malformation removal, disfigurement, and possible dysfunction. Use of the PI3K inhibitor alpelisib, previously shown to be effective in PROS, has not been reported in PIK3CA-associated head and neck lymphatic malformations (HNLMs) or facial infiltrating lipomatosis (FIL). We describe prospective treatment of 5 children with PIK3CA-associated HNLMs or head and neck FIL with alpelisib monotherapy. METHODS: A total of 5 children with PIK3CA-associated HNLMs (n = 4) or FIL (n = 1) received alpelisib monotherapy (aged 2-12 years). Treatment response was determined by parental report, clinical evaluation, diary/questionnaire, and standardized clinical photography, measuring facial volume through 3-dimensional photos and magnetic resonance imaging. RESULTS: All participants had reduction in the size of lesion, and all had improvement or resolution of malformation inflammation/pain/bleeding. Common invasive therapy was avoided (ie, tracheotomy). After 6 or more months of alpelisib therapy, facial volume was reduced (range 1%-20%) and magnetic resonance imaging anomaly volume (range 0%-23%) were reduced, and there was improvement in swallowing, upper airway patency, and speech clarity. CONCLUSION: Individuals with head and neck PROS treated with alpelisib had decreased malformation size and locoregional overgrowth, improved function and symptoms, and fewer invasive procedures.

Contemporary Management of Microtia.

Microtia techniques have evolved to improve esthetic outcomes, reduce donor site morbidities, and reduce complications. Patients with microtia commonly have aural atresia associated with conductive hearing loss. We present the evolution of our technique for microtia reconstruction and considerations for hearing management in these patients.

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations.

PURPOSE: Vascular malformations (VM) are primarily caused by somatic activating pathogenic variants in oncogenes. Targeted pharmacotherapies are emerging but require molecular diagnosis. Since variants are currently only detected in malformation tissue, patients may be ineligible for clinical trials prior to surgery. We hypothesized that cell-free DNA (cfDNA) could provide molecular diagnoses for patients with isolated VM. METHODS: cfDNA was isolated from plasma or cyst fluid from patients with arteriovenous malformations (AVM), venous malformations (VeM), or lymphatic malformations (LM), and assayed for known pathogenic variants using droplet digital polymerase chain reaction (ddPCR). Cyst fluid cfDNA from an independent cohort of LM patients was prospectively screened for variants using a multiplex ddPCR assay. RESULTS: Variants were detected in plasma cfDNA in patients with AVM (2/8) and VeM (1/3). Variants were detected in cyst fluid cfDNA (7/7) but not plasma (0/26) in LM patients. Prospective testing of cyst fluid cfDNA with multiplex ddPCR identified variants in LM patients who had never undergone surgery (4/5). CONCLUSION: Variants were detected in plasma from AVM and VeM patients, and in cyst fluid from patients with LM. These data support investigation of cfDNA-based molecular diagnostics for VM patients, which may provide opportunities to initiate targeted pharmacotherapies without prior surgery.

Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.

Robin sequence (RS) has many genetic and nongenetic causes, including isolated Robin sequence (iRS), Stickler syndrome (SS), and other syndromes (SyndRS). The purpose of this study was to determine if the presence and type of cleft palate varies between etiologic groups. A secondary endpoint was to determine the relationship of etiologic group, cleft type, and mortality. Retrospective chart review of patients with RS at two high-volume craniofacial centers. 295 patients with RS identified. CP was identified in 97% with iRS, 95% with SS, and 70% of those with SyndRS (p < .0001). U-shaped CP was seen in 86% of iRS, 82% with SS, but only 27% with SyndRS (p < .0001). At one institution, 12 children (6%) with RS died, all from the SyndRS group (p < .0001). All died due to medical comorbidities related to their syndrome. Only 25% of children who died had a U-shaped CP. The most common palatal morphology among those who died was an intact palate. U-shaped CP was most strongly associated with iRS and SS, and with a lower risk of mortality. RS with submucous CP, cleft lip and palate or intact palate was strongly suggestive of an underlying genetic syndrome and higher risk of mortality.

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.

More than 50 individuals with activating variants in the receptor tyrosine kinase PDGFRB have been reported, separated based on clinical features into solitary myofibromas, infantile myofibromatosis, Penttinen syndrome with premature aging and osteopenia, Kosaki overgrowth syndrome, and fusiform aneurysms. Despite their descriptions as distinct clinical entities, review of previous reports demonstrates substantial phenotypic overlap. We present a case series of 12 patients with activating variants in PDGFRB and review of the literature. We describe five patients with PDGFRB activating variants whose clinical features overlap multiple diagnostic entities. Seven additional patients from a large family had variable expressivity and late-onset disease, including adult onset features and two individuals with sudden death. Three patients were treated with imatinib and had robust and rapid response, including the first two reported infants with multicentric myofibromas treated with imatinib monotherapy and one with a recurrent p.Val665Ala (Penttinen) variant. Along with previously reported individuals, our cohort suggests infants and young children had few abnormal features, while older individuals had multiple additional features, several of which appeared to worsen with advancing age. Our analysis supports a diagnostic entity of a spectrum disorders due to activating variants in PDGFRB. Differences in reported phenotypes can be dramatic and correlate with advancing age, genotype, and to mosaicism in some individuals.

Automated Surgical Approach Planning for Complex Skull Base Targets: Development and Validation of a Cost Function and Semantic At-las.

Successful multidisciplinary treatment of skull base pathology requires precise preoperative planning. Current surgical approach (pathway) selection for these complex procedures depends on an individual surgeon's experiences and background training. Because of anatomical variation in both normal tissue and pathology (eg, tumor), a successful surgical pathway used on one patient is not necessarily the best approach on another patient. The question is how to define and obtain optimized patient-specific surgical approach pathways? In this article, we demonstrate that the surgeon's knowledge and decision making in preoperative planning can be modeled by a multiobjective cost function in a retrospective analysis of actual complex skull base cases. Two different approaches- weighted-sum approach and Pareto optimality-were used with a defined cost function to derive optimized surgical pathways based on preoperative computed tomography (CT) scans and manually designated pathology. With the first method, surgeon's preferences were input as a set of weights for each objective before the search. In the second approach, the surgeon's preferences were used to select a surgical pathway from the computed Pareto optimal set. Using preoperative CT and magnetic resonance imaging, the patient-specific surgical pathways derived by these methods were similar (85% agreement) to the actual approaches performed on patients. In one case where the actual surgical approach was different, revision surgery was required and was performed utilizing the computationally derived approach pathway.

Quantitative Analysis of Transnasal Anterior Skull Base Approach: Report of Technology for Intraoperative Assessment of Instrument Motion.

OBJECTIVE: To develop a method to measure intraoperative surgical instrument motion. This model will be applicable to the study of surgical instrument kinematics including surgical training, skill verification, and the development of surgical warning systems that detect aberrant instrument motion that may result in patient injury. DESIGN: We developed an algorithm to automate derivation of surgical instrument kinematics in an endoscopic endonasal skull base surgery model. Surgical instrument motion was recorded during a cadaveric endoscopic transnasal approach to the pituitary using a navigation system modified to record intraoperative time-stamped Euclidian coordinates and Euler angles. Microdebrider tip coordinates and angles were referenced to the cadaver's preoperative computed tomography scan allowing us to assess surgical instrument kinematics over time. A representative cadaveric endoscopic endonasal approach to the pituitary was performed to demonstrate feasibility of our algorithm for deriving surgical instrument kinematics. CONCLUSIONS: Technical feasibility of automatically measuring intraoperative surgical instrument motion and deriving kinematics measurements was demonstrated using standard navigation equipment.

Crowd-sourced assessment of surgical skills in cricothyrotomy procedure.

BACKGROUND: Objective assessment of surgical skills is resource intensive and requires valuable time of expert surgeons. The goal of this study was to assess the ability of a large group of laypersons using a crowd-sourcing tool to grade a surgical procedure (cricothyrotomy) performed on a simulator. The grading included an assessment of the entire procedure by completing an objective assessment of technical skills survey. MATERIALS AND METHODS: Two groups of graders were recruited as follows: (1) Amazon Mechanical Turk users and (2) three expert surgeons from University of Washington Department of Otolaryngology. Graders were presented with a video of participants performing the procedure on the simulator and were asked to grade the video using the objective assessment of technical skills questions. Mechanical Turk users were paid $0.50 for each completed survey. It took 10 h to obtain all responses from 30 Mechanical Turk users for 26 training participants (26 videos/tasks), whereas it took 60 d for three expert surgeons to complete the same 26 tasks. RESULTS: The assessment of surgical performance by a group (n = 30) of laypersons matched the assessment by a group (n = 3) of expert surgeons with a good level of agreement determined by Cronbach alpha coefficient = 0.83. CONCLUSIONS: We found crowd sourcing was an efficient, accurate, and inexpensive method for skills assessment with a good level of agreement to experts' grading.

Head and Neck Vascular Anomalies in Children.

Craniomaxillofacial vascular anomalies encompass a diverse and complex set of pathologies that may have a profound impact on pediatric patients. They are subdivided into vascular tumors and vascular malformations depending on biological properties, clinical course, and distribution patterns. Given the complexity and potential for leading to significant functional morbidity and esthetic concerns, a multidisciplinary approach is generally necessary to optimize patient outcomes. This article reviews the etiology, clinical course, diagnosis, and current management practices related to vascular anomalies in the head and neck.

Multidisciplinary Advanced Surgical Planning for Slide Tracheoplasty Using 3D-Printed Models.

OBJECTIVE: The objective of this study was to develop and assess multidisciplinary advanced surgical planning (ASP) sessions using three dimensional (3D) printed models for cervicothoracic slide tracheoplasty (CST). We hypothesized that these sessions would improve surgeon confidence, streamline intraoperative planning, and highlight the utility of 3D modeling. METHODS: 3D-printed patient-specific trachea models were used in pre-operative ASP sessions consisting of a multidisciplinary case discussion and hands-on slide tracheoplasty simulation. Participants completed a survey rating realism, utility, impact on the final surgical plan, and pre- and post-session confidence. Statistical analysis was performed via Wilcoxon and Kruskal-Wallis tests. RESULTS: Forty-eight surveys were collected across nine sessions and 27 different physicians. On a 5-point Likert scale, models were rated as "very realistic", "very useful" (both median of 4, IQR 3-4 and 4-5, respectively). Overall confidence increased by 1.4 points (+/- 0.7, p < 0.0001), with the largest change seen in those with minimal prior slide tracheoplasty experience (p = 0.005). Participants felt that the sessions "strongly" impacted their surgical plan or anticipated performance (median 4, IQR 4-5), regardless of training level or experience. CONCLUSION: 3D-printed patient-specific models were successfully implemented in ASP sessions for CST. Models were deemed very realistic and very useful by surgeons across multiple specialties and training levels. Surgical planning sessions also strongly impacted the final surgical plan and increased surgeon confidence for CST. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:3395-3401, 2024.

Reducing annotating load: Active learning with synthetic images in surgical instrument segmentation.

Accurate instrument segmentation in the endoscopic vision of minimally invasive surgery is challenging due to complex instruments and environments. Deep learning techniques have shown competitive performance in recent years. However, deep learning usually requires a large amount of labeled data to achieve accurate prediction, which poses a significant workload. To alleviate this workload, we propose an active learning-based framework to generate synthetic images for efficient neural network training. In each active learning iteration, a small number of informative unlabeled images are first queried by active learning and manually labeled. Next, synthetic images are generated based on these selected images. The instruments and backgrounds are cropped out and randomly combined with blending and fusion near the boundary. The proposed method leverages the advantage of both active learning and synthetic images. The effectiveness of the proposed method is validated on two sinus surgery datasets and one intraabdominal surgery dataset. The results indicate a considerable performance improvement, especially when the size of the annotated dataset is small. All the code is open-sourced at: https://github.com/HaonanPeng/active_syn_generator.

Multiportal Retrograde Endoscopy to Enhance Surgical Target Visualization: A Pilot Study.

Objective Current transnasal endoscopic techniques for sinus and skull base surgery use a single endoscope to provide visualization from one perspective curtailing depth perception and compromising visualization of the instrument-target interface. The view can be blocked by instruments, and collisions between instruments often occur. The objective of this study was to investigate the use of multiportal retrograde endoscopy to provide more accurate manipulation of the surgical target. Design Maxillary antrostomy and frontal sinusotomy were performed on three different cadavers by three different surgeons. A zero-degree rigid endoscope was introduced through the nose for the standard transnasal approach. A flexible endoscope was introduced transorally, directed past the palate superiorly, and then flexed 180 degrees for the retrograde view. Videos of the standard transnasal view from the rigid endoscope and retrograde view from the flexible endoscope were recorded simultaneously. Results All surgeries were able to be performed with dual-screen viewing of the standard and retrograde view. The surgeons noted that they utilized the retrograde view to adjust the location of ends/tips of their instruments. Four surgeons reviewed the videos and individually agreed that the visualization achieved provided a perspective otherwise not attainable with rigid transnasal endoscopy alone. Conclusion High-quality visualization of surgical targets such as the frontal or maxillary ostia can be challenging with rigid endoscopes alone. Multiportal retrograde endoscopy provides proof of concept that additional views of a surgical target can be achieved. Additional work is needed to further develop indications, techniques, and generalizability to targets beyond those investigated here.

Preoperative Imaging and Surgical Findings in Pediatric Frontonasal Dermoids.

OBJECTIVE: To review cases of congenital frontonasal dermoids to gain insight into the accuracy of preoperative computed tomography (CT) and magnetic resonance imaging (MRI) in predicting intracranial extension. METHODS: This retrospective study included all patients who underwent primary excision of frontonasal dermoids at an academic children's hospital over a 23-year period. Preoperative presentation, imaging, and operative findings were reviewed. Receiver operating characteristic (ROC) statistics were generated to determine CT and MRI accuracy in detecting intracranial extension. RESULTS: Search queries yielded 129 patients who underwent surgical removal of frontonasal dermoids over the study period with an average age of presentation of 12 months. Preoperative imaging was performed on 122 patients, with 19 patients receiving both CT and MRI. CT and MRI were concordant in the prediction of intracranial extension in 18 out of 19 patients. Intraoperatively, intracranial extension requiring craniotomy was seen in 11 patients (8.5%). CT was 87.5% sensitive and 97.4% specific for predicting intracranial extension with an ROC of 0.925 (95% CI [0.801, 1]), whereas MRI was 60.0% sensitive and 97.8% specific with an ROC of 0.789 (95% CI [0.627, 0.950]). CONCLUSION: This is the largest case series in the literature describing a single institution's experience with frontonasal dermoids. Intracranial extension is rare and few patients required craniotomy in our series. CT and MRI have comparable accuracy at detecting intracranial extension. Single-modality imaging is recommended preoperatively in the absence of other clinical indications. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:1961-1966, 2024.

Surface Reconstruction of the Pediatric Larynx via Structure from Motion Photogrammetry: A Pilot Study.

Endoscopy is the gold standard for characterizing pediatric airway disorders, however, it is limited for quantitative analysis due to lack of three-dimensional (3D) vision and poor stereotactic depth perception. We utilize structure from motion (SfM) photogrammetry, to reconstruct 3D surfaces of pathologic and healthy pediatric larynges from monocular two-dimensional (2D) endoscopy. Models of pediatric subglottic stenosis were 3D printed and airway endoscopies were simulated. 3D surfaces were successfully reconstructed from endoscopic videos of all models using an SfM analysis toolkit. Average subglottic surface error between SfM reconstructed surfaces and 3D printed models was 0.65 mm as measured by Modified Hausdorff Distance. Average volumetric similarity between SfM surfaces and printed models was 0.82 as measured by Jaccard Index. SfM can be used to accurately reconstruct 3D surface renderings of the larynx from 2D endoscopy video. This technique has immense potential for use in quantitative analysis of airway geometry and virtual surgical planning.

Residency Selection in Otolaryngology: Past, Present, & Future.

OBJECTIVES: To examine the otolaryngology residency selection process, including past experiences based on the medical literature and survey analysis of our present practices to generate recommendations for future selection system design. METHODS: A mixed-methods study, including a scoping review and a cross-sectional survey, was completed. Four databases were assessed for articles on otolaryngology residency selection published from January 1, 2016 through December 31, 2020. A 36-question survey was developed and distributed to 114 otolaryngology program directors. Descriptive and thematic analysis was performed. RESULTS: Ultimately, 67 of 168 articles underwent data abstraction and assessment. Three themes surfaced during the analysis: effectiveness, efficiency, and equity. Regarding the survey, there were 62 participants (54.4% response rate). The three most important goals for the selection process were: (1) to fit the program culture, (2) to make good colleagues, and (3) to contribute to the program's diversity. The three biggest 'pain points' were as follows: (1) Large volume of applications, (2) Lack of reliable information about personal characteristics, and (3) Lack of reliable information about a genuine interest in the program. CONCLUSIONS: Within this study, the depth and breadth of the literature on otolaryngology residency selection have been synthesized. Additionally, baseline data on selection practices within our specialty has been captured. With an informed understanding of our past and present, we can look to the future. Built upon the principles of person-environment fit theory, our proposed framework can guide research and policy discussions regarding the design of selection systems in otolaryngology, as we work to achieve more effective, efficient, and equitable outcomes. LEVEL OF EVIDENCE: N/A Laryngoscope, 133:2929-2941, 2023.

Analysis of Upper Airway Flow Dynamics in Robin Sequence Infants Using 4-D Computed Tomography and Computational Fluid Dynamics.

Robin Sequence (RS) is a potentially fatal craniofacial condition characterized by undersized jaw, posteriorly displaced tongue, and resultant upper airway obstruction (UAO). Accurate assessment of UAO severity is crucial for management and diagnosis of RS, yet current evaluation modalities have significant limitations and no quantitative measures of airway resistance exist. In this study, we combine 4-dimensional computed tomography and computational fluid dynamics (CFD) to assess, for the first time, UAO severity using fluid dynamic metrics in RS patients. Dramatic intrapopulation differences are found, with the ratio between most and least severe patients in breathing resistance, energy loss, and peak velocity equal to 40:1, 20:1, and 6:1, respectively. Analysis of local airflow dynamics characterized patients as presenting with primary obstructions either at the location of the tongue base, or at the larynx, with tongue base obstructions resulting in a more energetic stenotic jet and greater breathing resistance. Finally, CFD-derived flow metrics are found to correlate with the level of clinical respiratory support. Our results highlight the large intrapopulation variability, both in quantitative metrics of UAO severity (resistance, energy loss, velocity) and in the location and intensity of stenotic jets for RS patients. These results suggest that computed airflow metrics may significantly improve our understanding of UAO and its management in RS.

Pediatric Nasal and Septal Fractures.

Pediatric nasal bone and septal fractures represent a large number of craniofacial injuries in children each year. Due to their differences in anatomy and potential for growth and development, the management of these injuries varies slightly from that of the adult population. As with most pediatric fractures, there is a bias toward less-invasive management to limit disruption to future growth. Often this includes closed reduction and splinting in the acute setting followed by open septorhinoplasty at skeletal maturity as needed. The overall goal of treatment is to restore the nose to its preinjury shape, structure, and function.