Using a heteroduplex approach and direct sequencing, we have completed the screening of approximately 88% of the neurofibromatosis type 2 (NF2)-coding sequence of DNA extracted from 33 schwannomas from NF2 patients and from 29 patients with sporadic schwannomas. The extensive screening has resulted in the identification of 33 unique mutations. Similarly to other human genes, we have shown that the CpG sites are more highly mutable in the NF2 gene. The frequency, distribution, and types of mutations were shown to differ between the sporadic and familial tumors. The majority of the mutations resulted in protein truncation and were consistent with more severe phenotype, however three missense mutations were identified during this study and were all associated with milder manifestations of the disease.
A prospective randomized study analyzing the safety and efficacy of a single dose of ototopical antibiotics following human middle ear tympanostomy tube insertion was performed. Fifty children undergoing bilateral tympanostomy tube insertion were studied by the placement of 0.5 mL of Cortisporin Otic Suspension (COS; Burroughs Wellcome Co., Research Triangle Park, N.C.) to one middle ear space by random assignment. Preoperative and postoperative audiograms were obtained, and the presence of otorrhea was noted. In one patient sensorineural hearing loss of 6 dB developed bilaterally, which was symmetric in both the treated and the untreated ear. This preliminary study showed no statistical difference in hearing loss or postoperative otorrhea associated with a single application of Cortisporin to the middle ear space.
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