PubMed Health⌕ Search

Biomedical subjects

G C Hombergen

Publications and source records attributed to G C Hombergen.

7 recordsLinked to original sources
PubMed1995

The Usher syndrome type 2A: clinical findings in obligate carriers.

Ten obligate carriers of Usher syndrome type 2A from 5 different families with 2 affected persons all underwent audiologic, vestibular and ophthalmologic examinations. They had a sensorineural hearing loss which was in excess of that expected for their age at all of the frequencies (0.25-8 kHz) tested, however, only a 10 dB (average) excess in hearing loss at 0.25-0.5 kHz proved to be significant. The speech discrimination scores obtained conformed with the hearing thresholds. Tympanometry, acoustic reflex and brain stem auditory-evoked potential findings were generally normal. Some vestibular abnormalities were found in a minority of the carrier sample, but not beyond the level of false positivity. Ophthalmologic findings were essentially normal, although in 5 carriers there was a subnormal electrooculography (EOG). These findings are not sufficient specific for carrier detection.

Acoustic Impedance Tests↗
PubMed1995

Air-bone gap in patients with X-linked stapes gusher syndrome.

It is often possible to elicit the stapedius reflex in patients suffering from recessive X-linked progressive mixed deafness syndrome with stapes gusher. The presence of an air-bone gap in the audiogram and the ability to elicit the stapedius reflex are conflicting. Measurements were performed on two patients who were suffering from this syndrome, to establish whether the hearing loss was of the mixed or purely sensorineural type. It was argued that, owing to congenital malformations, the audiovestibular system might act as a more than normally efficient transducer, to convert skull vibrations into inner ear fluid motions, leading to bone conduction thresholds that are better than expected. The results of tone and speech audiometry, stapedius reflex measurements, and brainstem evoked response audiometry in this study showed a pattern similar to that generally seen in patients with purely sensorineural hearing loss. This supports the hypothesis that the air-bone gap in the audiogram does not have the usual significance of a conductive hearing loss component.

Adult↗
PubMed1993

Hearing aid fitting of preschool and primary school children. An evaluation using the insertion gain measurement.

This report presents the results of a group comparison between insertion gain measurements and the calculated Articulation Index (AI) in preschool children (n = 35), primary school children (n = 60) and adults (n = 40). Only patients with bilateral sensorineural hearing loss, successfully fitted binaurally with hearing aids, were included. Patients with an asymmetrical hearing loss or an abrupt high frequency loss were excluded. No statistically significant differences were found between the group results of the preschool children and the primary school children. The results showed that the overall level of insertion gain was 7 dB higher in the total children group (primary school and preschool children) than in the adult group and the AI was approximately 0.1 higher in the children group. Additionally, the measured insertion gain was compared to the desired gain resulting from prescriptive rules: it is concluded that for children the so-called half gain rule is appropriate, while for the adults the measured insertion gain lies between the values prescribed by the half gain rule and the one-third gain rule.

Acoustic Stimulation↗
PubMed1985

X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery.

Stapes gusher is a rare and usually unexpected complication of stapes surgery. This complication will inevitably be encountered during stapes surgery in all affected males with the X-linked, progressive mixed deafness syndrome. The opportunity of studying eight affected males in a large Dutch family with audiometry, vestibulometry, and polytomography was used to identify specific features. Awareness of these features will assist the otologist in recognizing new cases preoperatively.

Child↗
PubMed1983

Perilymphatic gusher and stapes surgery. A predictable complication?

The cases of 3 patients who had 'perilymph gushers' following stapes surgery are reported. The similarities in their clinical histories and examinations are discussed. All 3 were males and had progressive mixed deafness presenting in early childhood. Polytomography revealed anomalies in both the vestibule and internal auditory meatus in 1 patient; the stapedial reflex was unexpectedly large in all 3. Further preoperative evaluation of these features in other patients and patients affected by the X-linked deafness syndrome is indicated in order to assess the validity of the above criteria.

Adult↗
PubMed1982

Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings.

Three siblings with Cockayne's syndrome are reported. Sural nerve biopsies revealed segmental de- and remyelination with onion-bulb formation. Disturbed visual and brain-stem auditory evoked responses indicated demyelination of the central nervous system. The peripheral and central myelinopathy increased with age, suggesting a progressive disorder. Our observations support the theory of Cockayne's syndrome being a leukodystrophy.

Adolescent↗