Epidemiology of permanent childhood hearing impairment in the Tyrol, 1980-94.

In recent years the need for reliable data on permanent childhood hearing impairment (PCHI) has increased, owing to both scientific interest and practical aspects such as implementation of neonatal hearing screening. In order to obtain data about the epidemiology of PCHI in the Austrian state of Tyrol, the medical records of all hearing-impaired Tyrolean children born between 1980 and 1994 were researched. A total of 165 children with at least moderate hearing impairment in the better ear were registered, of whom 52.7% were found to be moderately hearing-impaired, 24.2% severely hearing-impaired and 23.0% profoundly hearing-impaired. Sensorineural hearing loss was observed in 87.3%, conductive hearing loss in 6.7% and mixed hearing loss in 6.1%. As for aetiology, non-syndromic hereditary hearing loss was diagnosed in 22% of the children and syndromic hearing loss in 8%. Congenital malformation of the ear was found in 3%. In 19% of the children, perinatal risk factors were seen, and in 10% a pre-, peri- or postnatal infection had occurred. Aetiology remained unknown in 36% of the children. The prevalence rate of newborn hearing impairment was 1.27/1000 newborns. The results are considered to fit well to the PCHI findings reported from other European regions.

Improvement in early detection of congenital hearing impairment due to universal newborn hearing screening.

OBJECTIVE: The aim of this study was to determine whether universal newborn hearing screening (UNHS) is effective in increasing the number of children whose hearing impairment is detected early, i.e. within the first 6 months of life. It also investigated whether UNHS contributes most to the early detection of moderately and severely hearing-impaired newborns, as suggested by a recently published report. METHODS: The study consisted of a retrospective analysis of the data of all children born in Tyrol between 1980 and 1999 and having an at least moderate permanent hearing loss in the better ear. RESULTS: The findings are that since UNHS was introduced in some newborn nurseries in 1995, a substantially higher number of hearing-impaired children has been detected early. For the whole sample, the increase of the early detection rate is 39.9%, with a 95% confidence interval of 33.2-46.8% (P<0.0001). For moderate hearing loss the increase is 49.2 with a 95% confidence intervall of 39.6-58.8% (P=0.000). CONCLUSIONS: On the whole, our findings lend support to the view that UNHS is effective in early detection of congenital hearing impairment. We conclude that UNHS provides the greatest benefit for moderately hearing-impaired children who, otherwise, would have been detected last.

De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.

Mutations of the connexin 26 (Cx26) gene cause isolated recessive or dominant hearing loss or both sensorineural hearing impairment and keratoderma. We have identified the first de novo mutation of the Cx26 gene, R75 W, in a sporadic case of isolated profound hearing loss. R75 W has been previously observed in association with hearing impairment and keratoderma in one family and is thus thought to cause both syndromic and non-syndromic hearing loss. This case illustrates the risk of a possible erroneous diagnosis of autosomal recessive hearing loss in a sporadic case.

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

A clinical evaluation and Cx26 mutation analysis was performed in 92 consecutive patients with sensorineural hearing loss in order to delineate the spectrum of genetically caused hearing loss. Among patients of Austrian origin, 53% were classified with hereditary hearing loss. Cx26 mutations were found in 26% of NSHL patients (40% of familial vs 18% of sporadic cases). The mutation 35delG accounted for 52.8% of all presumed GJB2 disease alleles. The second most frequent mutation was L90P (16.7%) having been reported with a prevalence of 0.7-3.5% in other populations. Three novel mutations were found. The novel mutation, R143Q, was associated with dominant high-frequency hearing loss. Pseudodominant transmission of NSHL was seen in four families with Cx26 mutations. A mutation 35delG carrier rate of 0.9% was observed among 672 controls from West-Austria. Cx26 mutations were found associated with mild to profound, and with asymmetric hearing impairment.

[Optimizing hearing screening by transient evoked otoacoustic emissions in newborn infants]. / Optimierung des Hörscreenings mittels Transient evozierter otoakustischer Emissionen (TEOAE) bei Neugeborenen.

One of the major drawbacks using transient evoked otoacoustic emissions (TEOAEs) for hearing screening in newborn infants is the high fail rate in normal-hearing children. The purpose of the present study was to improve the overall performance of the test procedure and reduce of the fail rate. Improvement was obtained by 3 modifications: (1) change of the pass criterion in healthy newborns by requiring TEOAEs in at least one ear and nor both ears, (2) performing the test only after the second post-partum day, and (3) using a second-stage screening prior to hospital discharge in newborns who failed the initial test. In all, 3980 newborns from 2 well-baby clinics and 243 newborns from a neonatal intensive care unit (NICU) were screened using an system ILO-88 system program mode quick-check test was completed in 3820 infants. Considering these modifications, the pass rate of healthy newborns was improved from 79.5% to > 99%, and only 0.7% of the false negative (healthy) newborns required further audiological evaluation. Babies from the NICU failed in 3.8% of the screening tests. Overall, the number of newborns who failed the ILO-88 screening test was significantly reduced and the fail rate minimize when compared to previously published experiences with TEOAEs in new-born hearing screening.

Esophageal motor disorders: videofluoroscopic and manometric evaluation--prospective study in 88 symptomatic patients.

Esophageal motor disorders are best evaluated with manometry, which, however, is time-consuming and not generally available. The authors prospectively investigated the yield of videofluoroscopy in detection of esophageal motor disorders in comparison with that of manometry. Eighty-eight patients with dysphagia, globus sensation, noncardiac chest pain, or progressive systemic sclerosis underwent both manometry and videofluoroscopy at 0-32-day intervals. Videofluoroscopy was performed with one swallowing study in the upright position and up to three swallowing studies in the prone oblique position. Manometric diagnoses of achalasia (n = 15), diffuse esophageal spasm (n = 1), nonspecific esophageal motor disorders (n = 44), and adynamic esophagus (n = 9) were made. Videofluoroscopically, 87% of the patients with achalasia, the one patient with diffuse spasms, 73% of the patients with nonspecific esophageal motor disorders, and all of the patients with adynamic esophagus received a correct diagnosis, for an overall sensitivity of 80%. The radiographic specificity was 79%. The authors conclude that videofluoroscopy is a valuable and reasonably sensitive technique for screening for esophageal motor disorders.

[1,000 ear operations--a critical analysis and clinical consequences]. / 1000 Ohroperationen--Eine kritische Analyse und klinische Konsequenzen.

1028 ear operations which were performed by our department during the last few years are being analysed in the study. 649 of them were carried out to improve hearing, 245 to cure the middle ear; 120 were reoperations, and 14 could not be classified. The patients were diagnosed as follows: 280 with and 279 with other forms of cholesteatoma, 151 with otosclerosis, 20 with deformations, 89 with a trauma, and 20 with a tumour of the middle ear. Of these, only reoperations of cholesteatoma, chronic otitis media and tympanosclerosis were examined in further detail in this research. 54 (of a total of 280) patients diagnosed with cholesteatoma were surgically treated a second time. The reason for reoperation was recurrent cholesteatoma in 70% of the cases, and a planned second-look operation after one year in 30%. In second-look operations, ossicular chain reconstruction was performed in most cases, but in another 11%, recurrent cholesteatoma was found. The majority of recurrencies occurred either 2 to 4 years after primary operation or after 11 years. 44 of a total of 297 patients with chronic mesotympanic otitis media were re-operated on: 57% of them for recurrent inflammation, and 43% for ossicular chain reconstruction as a planned second-step operation. The majority of reoperations occurred within the first year after primary operation, continually decreasing for up to five years afterwards. The following conclusions can be drawn from these results: 1. Often the patients suffer from extended cholesteatoma, so that at first curative surgery is necessary, while the ossicular chain can be reconstructed by a second operation only.(ABSTRACT TRUNCATED AT 250 WORDS)

Expression of cathepsin D in head and neck cancer.

To determine overexpression of cathepsin D in head and neck tumours we examined cytosols from 53 primary tumours, nine cytosols of lymph node metastases and 12 cytosols from adjacent normal tissue. We found a significantly lower concentration in normal tissue compared with tumour cytosol as well as with metastases, even when we compared tumours and corresponding metastases pairwise. In addition, we found a significantly higher concentration of cathepsin D in five lymph node metastases than in the corresponding tumours. We conclude that the reported role of cathepsin D is not restricted to breast cancer but could also be important in head and neck cancer.

[Risk factors in recurrent nerve paralysis: a statistical analysis of 7566 cases of struma surgery]. / Risikofaktoren der Recurrensparese. Eine statistische Analyse an 7566 Strumaoperationen.

Between 1979-1988, 7566 operations for benign diseases of the thyroid gland were performed. The frequency of the paresis of the recurrent nerve examined between the third and fifth postoperative day was 5.2% for patients and 3.2% for resected lobes. The incidence was correlated to performed operative procedure (enucleation, subtotal resection, lobectomy) to size (weight of specimen) and to the expansion of the goiter (substernal, intrathoracic, retrotracheal) as well as to sex. These factors influence the risk of injury with high statistic significance. The side of resection and the ligature of the thyroid inferior artery also influenced the rate of recurrent nerve pareses. Age of patient and morphology of the thyroid disease did not cause an increasing risk of nerve injury.

Optimizing of electroneuronography of the facial nerve.

The amplitude ratio between the paretic and the normal side as determined by electroneuronography is used as a basis for estimating the prognosis of facial palsy. Several methods have been described of placing the surface electrodes and of finding the supramaximal impulse strength. We investigated 16 normal test persons with the aim (1) of optimizing the procedure of neuronography with regard to the possible variations of electrode placement and stimulus intensity and (2) of finding out the right/left difference in normal test subjects. Following our results, the best positions of the recording electrodes are the nasal alae. Even under these most favorable test conditions we found an average side difference of the bilaterally recorded electroneurograms of normal test persons of 22%.

[Clinical experiences with digital video image analysis procedures in the assessment of endoscopic ENT video findings]. / Klinische Erfahrungen digitaler Videobildanalyseverfahren zur Auswertung von endoskopischen HNO-Video-Befunden.

Recent developments in data processing enable digital information to be obtained from video frames, leading to the possibility of computerised analysis of endoscopic ENT videos (e.g. in laryngology). Two simple pilot systems ("Genlock Computer with Superimposer" and "Videodigitizer") are presented, as basis for a discussion of the advantages and disadvantages of these methods.