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1/122. Persistent bilateral hearing loss after shunt placement for hydrocephalus. Case report.

    Transient hearing decrease following loss of cerebrospinal fluid (CSF) has been reported in patients undergoing lumbar puncture, spinal anesthesia, myelography, and/or different neurosurgical interventions. The authors present the first well-documented case of a patient with persistent bilateral low-frequency sensorineural hearing loss after shunt placement for hydrocephalus and discuss the possible pathophysiological mechanisms including the role of the cochlear aqueduct. These findings challenge the opinion that hearing decreases after loss of CSF are always transient. The authors provide a suggestion for treatment.
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2/122. Anti-labyrinthine antibodies in a patient with relapsing polychondritis.

    Relapsing polychondritis is a rare inflammatory disease that causes destruction of cartilaginous tissue in various anatomical regions. We report here about a 55-year-old female patient with relapsing polychondritis that involved the right auricle, both audiovestibular organs and both eyes. The patient presented with persisting inflammation of the right auricle, sudden lower-frequency hearing loss, acute moderate vertigo with nausea and mild ocular symptoms. Immunofluorescence assays were used for the detection of antibodies against the cochlea and the vestibular organ and demonstrated the presence of circulating antibodies against the audiovestibular organ. No staining for anti-corneal IgG was detected. Improvement of clinical disease was achieved by treatment with systemic steroids and vasodilator drugs, and long-term medication with low-dose corticosteroids.
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3/122. hearing loss in neurofibromatosis type 1: report of two cases.

    We report two cases of sixteen year old female patients with NF1 and hearing loss. One patient had only cafe-au-lait spots, while the other patient had severe manifestations of NF1 in form of kyphoscoliosis, requiring multiple laminectomies, vertiginous attacks and optic radiation glioma seen on MRI. Other investigations included pure tone audiograms, autoimmune inner ear disease (AIED) tests. The patient with slight manifestations of NFI had mild to moderate low frequency bilateral sensorineural hearing loss, which showed 20 dB improvement in hearing threshold with steroid treatment. On the other hand, the patient with severe manifestations of NFI disease had profound sensorineural hearing loss with vertiginous episodes. hearing loss which is usually seen in patients with acoustic neuroma, neurofibromatosis type II, is also an important symptom in patients with neurofibromatosis type I.
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4/122. Sensorineural hearing loss associated with Byler disease.

    Progressive familial intrahepatic cholestasis, sometimes described as Byler disease, is a lethal liver disease and its inheritance is autosomal recessive. There is a previous report on the occasional association between this disease and sensorineural hearing loss without any audiological findings. We report here two siblings, an 18-year-old female and a 16-year-old male, suffering from Byler disease and hearing loss. Pure tone, Bekesy and speech audiometries and auditory brain stem response examination were performed. Audiometric data showed hearing characteristics of cochlear origin, high-frequency loss and progressiveness. This sensorineural hearing loss possibly results from a genetic mutation. The mechanism of cochlear disorder in patients with Byler disease is unknown, however, a novel gene responsible for deafness might be found to be related to Byler disease.
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5/122. Altered phonatory physiology with short-term deactivation of children's cochlear implants.

    OBJECTIVES: The purposes of this investigation were 1) to determine whether short-term auditory deprivation results in systematic phonatory changes for prelingually deafened children who use cochlear implants (CIs) and 2) to determine whether such changes are similar to those that have been reported for postlingually deafened adults. DESIGN: Participants were two 6-yr-old children with CIs. Both children had been prelingually deafened, had good to excellent speech production and speech perception skills, and had been using their CIs for 2.5 yr. A single-subject design was used. Intraoral air pressure (Po), phonatory air flow (Vl), electroglottograph (EGG) cycle width, fundamental frequency (F0), and intensity were measured during syllable production over two baseline days and three experimental days. Data were collected twice on each baseline day while the children wore their CIs, with a 1 hr break between data collection sessions. On experimental days, data were collected while the children wore their CIs (ON condition) and after their CIs had been removed for 1 hr (OFF condition). RESULTS: Both children demonstrated highly variable phonatory behaviors in baseline. The child with the more proficient speech production and perception skills showed consistent and significant reductions in Po, F0, and intensity in the OFF condition. These findings were dissimilar to those that occurred with repeated testing in the baseline condition and so were attributed to the sudden loss of auditory feedback. The other child showed a consistent and significant increase in mean Vl in the OFF condition. However, this child exhibited a similar finding with repeated testing in the baseline condition. Therefore, increased Vl in the OFF condition may have represented a practice effect. She also showed a small and consistent decrease in F0 in the OFF condition when F0 was derived from acoustic data, but this effect was not reliable in another data set when F0 was derived from the EGG signal. Our results with prelingually deafened children were inconsistent with reports of increased intensity and F0 in the absence of auditory feedback for postlingually deafened adults with CIs. CONCLUSIONS: Some prelingually deafened children who are successful CI users appear to use auditory feedback to self-monitor phonation. We suggest that the participant in our investigation who showed systematic phonatory changes in response to diminished auditory feedback was using auditory feedback primarily to stabilize her phonatory behaviors. She may not have had adequate experience with auditory feedback or adequate flexibility in her use of feedback mechanisms to implement the phonatory compensations that late-deafened adults use when auditory feedback suddenly is diminished. We further suggest that the phonatory changes that she exhibited during short-term auditory deprivation reflected disruption of her typical speaking strategies or apprehension about speaking when her ability to self-monitor auditorily was compromised.
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6/122. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).

    We report a missense mutation in the connexin 26 gene (GJB2) in a family with an autosomal dominant syndrome of hearing loss and hyperkeratosis. The affected family members have high frequency, slowly progressive, bilateral, sensorineural hearing loss and palmoplantar hyperkeratosis. The mutation causes an amino acid substitution (G59A), which may disrupt a reverse turn in the first extracellular loop of connexin 26. Connexin 26 mutations have been reported in syndromes of deafness and palmoplantar keratoderma. These data provide additional evidence for the role of connexin 26 in syndromes of this type.
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keywords = high frequency, frequency
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7/122. head trauma and mid-frequency hearing loss.

    Numerous reports in the literature associate head trauma with high-frequency hearing losses, often mimicking "4K notches" attributed to noise exposure. We have observed that some patients with a positive history for head trauma may show midfrequency notches in their audiometric configurations.
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8/122. The effect of the "floating mass transducer" in the middle ear on hearing sensitivity.

    OBJECTIVE: The Vibrant soundbridge is a semi-implantable hearing device; the transducer is implanted, coupled directly to the incus. The influence of the implant surgery and the presence of the transducer on hearing sensitivity was studied in six implanted subjects. STUDY DESIGN: Longitudinal case reports. SETTING: Tertiary referral center. Subjects. The subjects had bilateral sensorineural hearing loss with an average hearing loss of 40 to 70 dB HL. RESULTS: In five of the six subjects, no long-term effect of the surgery or the presence of the transducer on hearing thresholds was found. In the remaining subject, a deterioration in hearing thresholds was found of 20 dB, with a high and low frequency component. In the 2-kHz region, hearing sensitivity was not deteriorated. In addition, chronic negative middle ear pressure occurred after surgery. CONCLUSION: Hearing thresholds did not change significantly in five of the six patients after placement of the "floating mass transducer." It was speculated that the high frequency component of the hearing deterioration in the remaining patient was caused by cochlear damage caused by the surgery and that the low frequency component was caused by the chronic aeration problems indirectly related to the surgery.
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9/122. A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region.

    We studied a Dutch family with DFNA2-linked progressive sensorineural hearing impairment (SNHI). Recent audiograms were obtained from 18 of the affected persons (age 7-81 years) and were used in a gene-linkage analysis. Linear regression analysis of the audiograms, using binaural mean thresholds, disclosed on average a descending slope of approximately 10 dB/octave at any age and an annual threshold increase at any frequency of about 0.7 dB/year. There may have been substantial congenital impairment at higher frequencies, but longitudinal analysis of hearing impairment in the youngest case, who was followed from age 5 years, suggested that the most significant changes in hearing may have occurred in the first two decades of life. Linkage analysis was carried out with special attention to the DFNA2 region because hearing trends were very similar to families previously linked to DFNA2. Linkage to DFNA2 was established with maximum lod scores of 4.7 and 3.2 for the flanking markers of the DFNA2 region (D1S432;MYCL1).
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10/122. Effects of renal transplantation on hearing and ocular changes in a monozygotic twin with Alport's syndrome: comparison with other twin on hemodialysis.

    AIM: To present a unique case of Alport's syndrome in monozygotic twins with two different treatment modalities - renal transplantation and hemodialysis, and to evaluate the effects of therapy on hearing and ophthalmological findings. methods: Pure-tone audiogram and ophthalmologic examinations were performed in both twins at the age of 30. At the age of 46, 4 years after renal transplantation in the first twin and after 6 years of hemodialysis in the second twin, both twins underwent control audiometric and ophthalmologic examinations. RESULTS: Control audiometric measurements showed the progression of bilateral sensorineural hearing loss in the high-frequency range (>2,000 Hz) in both twins. The hearing threshold progressed from initial 50 dB in both twins at the time of the diagnosis to 55 dB in the twin on hemodialysis, and 85 dB in the twin with a transplanted kidney. Retinal blurry hyperpigmentations disappeared in the twin with a transplanted kidney. CONCLUSION: In comparison with hemodialysis, renal transplantation in Alport's syndrome may have deleterious effect on hearing, when associated with plasma hyperviscosity and hyperlipidemia, but may lead to regression of retinal hyperpigmentation.
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