Clinical otolaryngology and allied sciences最新文献

An autosomal dominant trait of progressive, non-syndromic, non-specific mid-frequency sensorineural hearing impairment was identified in a Dutch family. Many affected family members (n = 21) were identified, among whom seven out of nine relatives aged < 30 years do not show pure mid-frequency hearing impairment, which suggests variable expression. Regression analysis was used to evaluate the age-related hearing threshold data in a cross-sectional analysis in 24 affected patients and in a longitudinal analysis in five of these. At all frequencies, progression in hearing impairment (i.e. the regression coefficient) was significant and fairly similar: the pooled value was about 1.0 dB/y. There was no significant (i.e. not =0 dB) offset threshold (i.e. Y intercept at age 0) found at any frequency. The regression lines could be pooled for the low frequencies (0.25-0.5 kHz) and the mid/high frequencies (1-8 kHz) and this produced apparent onset ages of about 3 and 4 years and annual threshold increases of 0.75 and 1.1 dB/y, respectively. In most patients there is a relatively late onset age (maximum in the range of at least 25-45 years). However, based on the longitudinal analysis of a patient from the age of 4 years onwards in some patients sensorineural hearing impairment might be congenital/prelingual. Oculo-vestibular function was found to be normal. Results from linkage studies tentatively position the underlying gene defect telomeric to the repositioned DFNA13 locus at chromosome 6p21-22.

Although microsurgery is generally regarded as the conventional treatment of choice for most vestibular schwannomas, there remains a group of patients in whom a conservative management approach may be a desirable alternative. The aim of this study was to determine the natural history and outcome following the conservative management of 72 patients with unilateral vestibular schwannomas. The reasons for conservative management included poor general health, age, patient preference, small tumour size, minimal or no symptoms, and tumour in the only/better hearing ear. The mean duration of follow-up was 39.8 months (range 12-194 months). All patients underwent serial magnetic resonance imaging (MRI) for assessment of tumour growth. Patients were deemed to have failed conservative management if there was evidence of continuous or rapid radiological tumour growth and/or increasing symptoms or signs. The mean tumour growth rate, according to the 1995 guidelines of the American Academy of Otolaryngology/Head and Neck Surgery, was 1.16 mm/year (range: 0.75 9.65 mm/year). Approximately 83% of tumours grew at < 2 mm/year. Significant tumour growth was seen in 36.4%, no or insignificant growth in 50%, and negative growth in 13.6% of tumours. The growth rate of CPA tumours (1.4 mm/year) was significantly greater than that of IAC tumours (0.2 mm/year) (P = 0.001). Failure of conservative management, in which active treatment was required, occurred in 15.3%. The outcome of these patients appeared to be as favourable to a comparable group who underwent primary treatment, without a period of conservative management. The mean growth rate of tumours in patients who failed conservative management (4.2 mm/year) was significantly greater than that in patients who did not fail (0.5 mm/year) (P < 0.01). No factors predictive of tumour growth or failure of conservative management were identified. Deterioration of mean pure tone average (0.5, 1, 2, 3 kHz) and speech discrimination scores occurred regardless of whether radiological tumour growth was demonstrated or not. This study suggests that in a select number of cases of vestibular schwannoma, a conservative management approach may be appropriate. Regular follow-up with serial MRI is mandatory. Deterioration of auditory function occurs even in the absence of tumour growth.

A targeted screen of babies at risk of having a sensorineural hearing loss (SNHL) using the auditory brainstem response has been in place since 1987 in Bradford and Airedale. The aims of this paper were to ascertain what proportion of a 4-year cohort of children with SNHL should have been identified by the programme; was identified by the programme; and the reasons for failing when children were missed. The cohort of 49 children had moderate to profound SNHL (> 50 dB) and were born between 1 April 1991 and 31 March 1995. Although 92% had at risk factors (higher than in other series), 80% was the maximum that could have been prospectively detected by the programme and only 37% were actually diagnosed as a result of the screening programme. Apart from a generalised under-recruitment, children with risk factors arising because of in utero, perinatal and postnatal events (as opposed to family history, craniofacial abnormalities and syndromes) tended to be missed (P < 0.01). The overall yield of the screening programme was 0.5/1000/year. While the yield of a universal neonatal screening programme based on otoacoustic emissions should be double this, a targeted infant distraction test later in infancy will be an essential backup. Improved liaison with paediatricians in particular as well as simplification of the referral criteria should improve targeting children at risk.

The endoscopic intranasal appearance of 211 adult patients with cystic fibrosis was studied. The prevalence of nasal polyps in this study was 37%. The commonest nasal symptoms were discharge, headache and obstruction. Intranasal endoscopy usually demonstrated mucosal oedema and thin, clear discharge. The prevalence of allergy, as diagnosed by skin prick testing, was almost twice that of the general population. Tympanometry showed that middle ear effusion was uncommon in these patients.

The prognostic value of the expression of the cyclin-dependent kinase inhibitor p21 and the p53 tumour suppressor gene was examined using immunohistochemistry in 60 patients with laryngeal cancer. Multivariate analysis using Cox's proportional hazard method, showed that p21 expression (P = 0.02) and advanced T stage (P = 0.003) significantly predicted survival. It was concluded that p21 expression may be a useful prognostic indicator in laryngeal cancer.

The measurement of a patient's health-related quality of life following acoustic neuroma surgery is important because the surgery itself can impose significant symptoms postoperatively. This study describes the most common problems experienced by the patients, using an open-ended questionnaire mailed to a series of 70 patients who had undergone acoustic neuroma surgery. Patient responses were classified by impairment, disability and handicap, according to the World Health Organization (WHO) classification. Results showed that this group of patients had a wide variety of symptoms and concerns, and particularly highlighted the relative importance of visual (49% of the patients) and psychosocial problems (34% of the patients) associated with surgery in contrast to tinnitus that seemed to be of minor importance. Open-ended questionnaires are useful in assessing outcomes from a quality of life perspective.

High resolution computed tomography (HRCT) of the temporal bone is performed routinely in the preoperative evaluation for cochlear implantation. The largest multicentre retrospective analysis of data was undertaken to compare the findings on HRCT with the surgical findings in an attempt to determine the accuracy of HRCT. Of the 1009 patients referred, 525 were scanned of whom 335 were implanted. As part of this study we were also able to identify both radiological and non-radiological reasons for rejection of patients for cochlear implantation. the commonest cause being adequate residual hearing. The accuracy of HRCT in predicting cochlear ossification was 94.6%, with a 100% specificity and a 71%, sensitivity. Meningitis was the leading cause of cochlear ossification (44%). We conclude from this extensive multicentre study of both adult and paediatric patients that HRCT is accurate in predicting cochlear abnormality. In post-meningitic patients magnetic resonance imaging (MRI) may be a useful additional investigation.