ABSTRACT
OBJECTIVES: Distinguishing between sporadic and germline/mosaic NF2-related schwannomatosis is important to ensure that patients have appropriate long-term care. With this report, we describe a unique case of a patient with 4 ipsilateral schwannomas and identify a combination of sequencing modalities that can accurately diagnose mosaic NF2-related schwannomatosis. METHODS: We present a 32-year-old woman with a familial history of vestibular schwannoma in her father and right-sided schwannomas involving the apical and basal turns of cochlea, lateral semicircular canal, and internal auditory canal (IAC). Genetic analysis of blood and frozen tissue from 2 tumors (intralabyrinthine and IAC tumors) was performed using next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and optical genome mapping (OGM). RESULTS: Germline testing for NF2, LZTR1, and SMARCB1 was negative. Tumor genetic testing revealed a shared NF2 pathogenic variant between the 2 tumors ("first hit") but distinct "second hit" NF2 variants, including mosaic loss of chromosome 22 in the IAC tumor seen only with OGM, consistent with mosaic NF2-related schwannomatosis. CONCLUSIONS: Multimodality sequencing, including NGS, MLPA, and OGM, was required to ensure appropriate diagnosis of mosaic NF2-related schwannomatosis in this patient. A similar approach can be used for other patients with multiple ipsilateral tumors and suspected tumor predisposition.
ABSTRACT
OBJECTIVE: After demonstration of face validity of a surgical middle ear simulator (SMS) previously, we assessed the content validity of the simulator with otolaryngology residents. STUDY DESIGN: Multicenter randomized prospective international study. SETTING: Four academic institutions. METHODS: Novice participants were randomized into control, low-fidelity (LF), and high-fidelity (HF) groups. Control and LF produced 2 recordings from 2 attempts, and HF produced 4 recordings from 10 attempts, with trials 1, 4, 7, and 10 used for scoring. Three blinded experts graded videos of the simulated stapedectomy operation using an objective skills assessment test format consisting of global and stapedotomy-specific scales. RESULTS: A total of 152 recordings from 61 participants were included. Baseline characteristics did not differ significantly between groups. Depending on the step of the operation, inter-rater reliability ranged from 24 to 90%. For LF and HF, years of training was significantly associated with improved scores in certain objective skills assessment test subparts. HF outperformed the control group on stapes and global scores ( p < 0.05). The HF group demonstrated improvement in global score over trials, but plateaued after four trials. Scores varied greatly for participants from different institutions in certain operative steps, such as transecting incudostapedial joints, likely due to differences in instrumentation and time elapsed since manufacture. CONCLUSION: Practice with SMS led to better performance in both global and stapes-specific scores. Further studies are needed to examine construct validity and to create otology-appropriate grading systems. Variables like instrumentation and decline in flexibility of the simulator after 12 months greatly affect performance on the simulator.
Subject(s)
Ear, Middle , Ossicular Prosthesis , Humans , Prospective Studies , Reproducibility of Results , Ear, Middle/surgery , StapesABSTRACT
Pneumoparotid refers to the presence of air within the parotid gland and pneumoparotitis indicates overlying inflammation or infection. Several physiologic mechanisms exist to prevent the reflux of air and oral contents into the parotid gland, however, these safeguards can be overcome by high intraoral pressures, thus provoking pneumoparotid. Whereas the relationship between pneumomediastinum and air dissecting up into cervical tissues is well understood, the relationship between pneumoparotitis and free air traveling downwards through contiguous structures within the mediastinum is less defined. We present a case of a gentleman who experienced the sudden onset of facial swelling and crepitus in the context of inflating an air mattress with his mouth, who was ultimately found to have pneumoparotid with consequent pneumomediastinum. Discussion of this unusual presentation is important to facilitate recognition and treatment of this uncommon pathology.
