The history of the genetics of hearing impairment.
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Biomedical subjects
Publications and source records attributed to R J Ruben.
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Throughout the industrial world, technology and techniques are now available so that any child, no matter how young or how impaired, can have an accurate and precise assessment of middle ear function, auditory reactivity, and physiological processing of auditory stimuli. Yet, a major problem exists in the lack of timely identification of many children with hearing impairments. Presently, identification systems are primarily proactive and are based on technology. These consist of testing of infants with biological risk factors and the use of hearing screening programs at various times during the first decade of life. The reactive sources of referral appear to be inadequate, an impression that is supported by the data on the delay of diagnosis. These inadequacies appear to be due to a lack of awareness on the part of health providers as to the potential hearing losses; ignorance concerning the ability to diagnose them; and a lack of awareness of the potential of effective intervention. Two additional approaches are suggested which would be added to those already existing for improving the number of children who will have their diagnoses made in a timely fashion. The first of these is educational: health providers should have required and continuing education concerning the effects of hearing loss, the ability to diagnose, and to intervene effectively. A parallel educational program should be provided for the public. The second is the periodic assessment of speech and language from early infancy through the first few years of life for all children. This would enable children with suspected impairments to be referred for definitive testing.(ABSTRACT TRUNCATED AT 250 WORDS)
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The auditory brain stem responses (ABRs) to 500- and 2,000-Hz bone-conducted (BC) tones were recorded from 48 infants with ears exhibiting various external and middle ear states (normal, otitis media, auditory meatal atresia). Amplitudes were greater, wave V latencies longer, and detectability better for responses to 500-Hz BC tones compared to 2,000-Hz BC tones. Overall, most (94% to 100%) infants with normal cochlear sensitivity demonstrate ABRs to 20-dB normal hearing level (nHL) 500-Hz BC tones and 30-dB nHL 2,000-Hz BC tones. In cases in which masking is difficult (eg, bilateral atresia), infant ipsilateral/contralateral ABR asymmetries may help determine from which cochlea a response to the BC tones originates. In conclusion, two-channel ABR recordings to BC tones appear to be feasible for demonstrating normal cochlear sensitivity in infants.
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We performed a retrospective analysis of 50 patients with acute frontal sinusitis who came to the Albert Einstein College of Medicine affiliated hospitals between 1981 and 1984. Cases were analyzed for age and sex in an attempt to determine the sex predilection for this disease in various age groups. Of the 50 patients studied, 38 (76%) were male and 12 (24%) were female. When subdivided into adult (older than 21 years of age) and adolescent (11 to 21 years of age) subgroups, a similar male predominance was noted. Among adults (28 patients), 21 (75%) were male and 7 (25%) were female. Among adolescents (22 patients), 17 (77%) were male and 5 (23%) were female. Of the 50 patients studied, 3 developed intracranial complications. All of these latter patients (all males) were in the adolescent group. Our findings indicate that male adolescents may be a high risk subgroup for developing intracranial complications secondary to their sinus infections.
Treatment of fistulae in children should be targeted at four different problem areas. The surgical intervention of these fistulae is most efficacious in controlling recurrent meningitis, which has not been discussed in this paper, and in the controlling of vestibular symptoms. Whether or not it will stop the progression of hearing loss or restore hearing is not known in a group of patients. It has been documented in this and other reports that the closure of the fistula will in specific cases appear to be associated in time with a stopping of the progression of the hearing loss and is associated also in time with the restoration of hearing function. Various factors must be considered in developing criteria for intervention. A decision to explore the ear should be based on history, audiometric change, vestibular testing including a fistula test, and malformation of bony labyrinth.
Recurrent respiratory papillomatosis is a relentless disease of viral origin in which squamous papillomas frequently obstruct the respiratory tract of children and young adults. No therapy has been proved to be curative for this process. Recent reports have suggested that interferon may cure or dramatically control airway papillomatosis. We evaluated the efficacy of human leukocyte interferon in the treatment of respiratory papillomatosis. One hundred twenty-three patients were randomly assigned to receive treatment with either surgery plus interferon or surgery alone. Interferon (2 X 10(6) IU per square meter of body-surface area) was given daily for one week, then three times per week for one year; treatment was followed by a year of observation, without the drug. Both study groups underwent serial endoscopy to remove papillomas and to document the efficacy of treatment during the two years of study. During the first six months, the growth rate of papillomas in the interferon group was significantly lower than in the control group (P = 0.0007). This difference diminished during the second six months and was no longer statistically significant (P = 0.68). Our data do not show that interferon is either curative or of substantial value as an adjunctive agent in the long-term management of recurrent respiratory papillomatosis. The initial benefit of interferon is not sustained.
The audiograms of 59 patients who had 15 different types of tubes implanted in a prospective study from 1982 to 1985 were reviewed. The audiograms were analyzed for changes in air and bone thresholds at 250, 500, 1000, 2000, 4000 and 8000 Hz. The first post-operative audiogram was tabulated for all the initial post-operative visits and for only the initial post-operative visits in which the tubes were functioning. The change in pure tone average air conduction showed a range in improvement from 22.1 dB for the Armstrong Grommet Tube to 1.9 dB for the Canoe Tube. A total of 8 tube types showed mean improvements of 10 dB or better. With the exception of the Reuter Bobbin, all mean air conduction thresholds in functioning tubes were below 20 dB. For 5 tubes the mean threshold was less than 10 dB. The Armstrong Beveled Grommet, Donaldson, and Richard's Wing tubes showed the largest improvements in air conduction threshold with mean decreases of 22.1, 18.7 and 18.3 dB, respectively. Pure tone average bone conduction for all functioning tubes improved 2.8 dB.
The effect of otitis media on emerging language was examined in a group of 1-year-olds. Based on pneumatic otoscopy, 15 babies were considered to be free of otitis media in both ears at 80% or more of their first year medical visits (otitis free) and 12 infants had bilaterally positive otoscopy results at 30% or more of their visits (otitis positive). Outcome measures at 1 year included the Bayley Scales of Infant Development (Bayley, 1969) and the Sequenced Inventory of Communication Development (SICD; Hedrick, Prather, & Tobin, 1984) Receptive and Expressive scales. No significant differences were detected on either the Bayley or the SICD Receptive scale. However, the otitis positive group exhibited significantly lower expressive language scores than the otitis free group, suggesting that impairments in language expression may be evident as early as 1 year of age in children with otitis media.
The relationship among otitis media, auditory sensitivity, and emerging language was examined in a group of 1-year-old children who were prospectively followed since birth. Pneumatic otoscopy was used to document the otologic status of the children's ears at each medical visit. There were 13 babies with normal ratings in each ear at 80% more of their visits (designated as "otitis free") and 12 babies with bilaterally positive otoscopy results at 30% or more of their first year visits (designated "otitis positive"). In comparison to the otitis free infants, the group of otitis positive babies demonstrated reduced auditory sensitivity as measured by auditory brain stem response (ABR) and poorer expressive language abilities. However, differences in receptive language were not detected. These results suggest that otitis media may have an impact on auditory sensitivity and developing language as early as 1 year of age.
A group of 46 high-risk infants (graduates of a neonatal intensive care unit) and 19 full-term infants were observed prospectively for middle ear status beginning at 40 weeks' postconceptional age. All infants were born to families living in low socioeconomic urban neighborhoods. Pneumootoscopy was used to determine the presence or absence of middle ear effusion during periodic medical and nonmedical visits throughout a 1-year period. Of all infants studied, 91% had at least one episode of otitis media with effusion during the observation interval. There were no differences in the percentages of visits during which high-risk and full-term infants experienced either normal middle ears bilaterally or otitis media with effusion in one or both ears. Furthermore, the age of onset of otitis media with effusion was similar for the two groups of babies. No differences were found between boys and girls in the age of onset for otitis media or in the percentage of visits at which otitis media with effusion was detected. Hispanic infants experienced their initial episode at significantly younger ages than did black infants in the sample. Both groups had similar percentages of visits attributable to otitis media with effusion during the observation period. The results indicate a high incidence among the infants studied and similar otologic courses for neonatal intensive care unit graduates and full-term infants during the first year of life.
Nasopharyngeal teratomas are rare neoplasms, often presenting as neonatal airway obstruction. A case is presented of a full-term neonate with a mass which filled the oropharynx, nasopharynx and the entire left nasal cavity and extended through the left nares. Airway obstruction necessitated orotracheal intubation immediately after delivery. Cerebrospinal fluid rhinorrhea was suggested and computerized tomography was initially interpreted as a nasoethmoidal encephalocele. After a craniotomy failed to reveal a dural defect, the mass was completely removed via the nose and nasopharynx. The infant was extubated and had an uneventful recovery. This case illustrates the problem of confusing a teratoma for an encephalocele and demonstrates a pitfall in the interpretation of computerized tomography of these lesions.
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Direct effects of the tracheotomy tube and cuff on glottic, subglottic and tracheal mucosa have been well described. Little work has been done on the effects of tracheotomy on the distal tracheobronchial tree. Ten beagle puppies underwent tracheotomy and were sacrificed at 18, 24, 36, 48 and 72 h. The trachea was studied for changes in cilia, epithelium, submucosal reaction and mucous production at the level of the tracheostome, tracheotomy tube tip, carina and right mainstem bronchus. Severe changes of epithelial erosion and ulceration with submucosal inflammatory reaction were noted as early as 18 h and persisted through 24 h. Some resolution of inflammation and progression to squamous metaplasia were seen at 36, 48 and 72 h. Changes in mucous gland activity varied widely. The traumatic effects of tracheotomy on normal tracheal anatomy and physiology and their clinical implications are discussed.