Faculty Bibliography

BACKGROUND. Paragangliomas of the head and neck are slow-growing tumors that originate from neural crest cells. Between 7% and 9% of these tumors have a familial occurrence. The suspected gene for familial paragangliomas (FP) is transmitted with an autosomal dominant mode of inheritance with incomplete penetrance, and appears to exhibit genomic imprinting. It has been demonstrated by family studies that individuals who inherit the gene(s) from their father will develop the disease. Through linkage analysis, the gene(s) for FP has been postulated to be located on the long arm of chromosome 11. The discovery of many different genes has been elucidated through the cytogenetic analysis of affected individuals who carry specific chromosome aberrations. This project was designed to look for chromosome abnormalities in several second-generation family members to further assist in the localization of the gene(s) for FP. METHODS. This study involved the cytogenetic evaluation of lymphocytes, fibroblasts, and tumor cells of several second-generation family members from a three-generation family with FP of the head and neck to look for chromosome abnormalities generally, and for abnormalities of chromosome 11 specifically. Standard cytogenetic techniques were used for lymphocyte and fibroblast cultures. Tumor cells were cultured in a collagen matrix with F12 medium supplemented with 3% L-glutamine and 10% fetal calf serum. RESULTS. There were no detectable abnormalities of chromosome 11 in any of the cells. However, nonrandom abnormalities of chromosomes 5 and 7 were seen in some of the tumor cells of one FP patient. To our knowledge, this is the first article which demonstrated the ability to successfully culture FP of the head and neck

Cochlear implant surgery by a group of experienced surgeons proceeded without major complications. Computed tomography scans tended to underestimate cochlear obstruction, but a drill-out was infrequently required if the scan was apparently nounal

A theoretical framework for the segmental component of speech production is outlined and some preliminary supporting data are reviewed. According to the framework, articulatory movements are programmed to achieve sequences of goals that are defined in terms of articulatory and acoustic parameters. The goals are correlates of distinctive features. Some feature correlates are determined by quantal (non-linear) relations between articulation and sound. Goals may also be influenced by other principles, such as a compromise between sufficient perceptual contrast and economy of articulatory effort, which leads to the prediction that the goal definitions correspond to regions (as opposed to points) in acoustic and articulatory space. Thus the goals are characterized by some parameter variation, which is possible partly because listeners can understand variable speech. Before utterances are produced, goal specifications are modified by prosodic influences and reduction. The sequence of modified goal specifications is converted to smooth, appropriately-timed articulatory movements by the speech motor control system. This control and the resulting kinematics are constrained in part by the biomechanical properties of the articulators. To help keep acoustic variability within perceptually-acceptable limits, speech motor control mechanisms may include a strategy by which different parts of the vocal-tract area function are adjusted in a complementary (''motor equivalent'') manner. The strategy takes advantage of the fact that for some sounds, a similar acoustic transfer function can be achieved with somewhat different area functions. The existence of such a strategy and the idea that speech motor programming is based in part on acoustic goals are supported by data that show trading relations between lip rounding and tongue-body raising in production of the vowel /u/. $$:

Voice-onset time (VOT) was measured in plosive-initial syllables uttered by five cochlear implant users prior to and repeatedly at intervals after activation of their speech processors. In 'short-term' experiments, the elicitation set was read after the subject's processor has been off for 24 h, then turned on them off again. Four out of five implant users increased voiceless and/or voiced VOTc (VOT corrected for changes in syllable duration) from preimplant baselines to final recordings made 1-3 years later. Measured acoustic correlates of speech 'posture' (average SPL, F0, and low-frequency spectral slope) changed concurrently. Results in the short-term study were largely consistent with the long term. Significant multiple regressions relating changes in VOTc to accompanying changes in postural correlates were found in both studies. This outcome is consistent with hypotheses that predict changes in both VOTc and in postural correlates with the restoration of some hearing and that allow for linkages between the two. Some of the reliable VOTc increases obtained over the long term that were not correlated with postural changes may have been caused directly by auditory validation of articulatory/acoustic relations that underlie synergisms for phoneme production