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Biomedical subjects

C W Cremers

Publications and source records attributed to C W Cremers.

At least 19 recordsLinked to original sources
PubMed1992

Hearing loss in Noonan syndrome.

A report is presented on a man of Turkish origin, with Noonan Syndrome and unilateral conductive hearing loss since early childhood. There was no history of otitis media. At the age of 23, exploratory tympanotomy revealed a total absence of the long process of the incus and a normal-looking tympanic membrane. The position of the normal-shaped mobile stapes was just medial, and not posteromedial, to the malleus. A congenital ossicular chain anomaly was diagnosed. An allograft malleus head was interposed between the stapes and the malleus. The resulting air-bone gap was less than 10 dB. A review of the literature is given on hearing loss in Noonan Syndrome.

Adult↗
PubMed1992

Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family.

Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder with variable clinical manifestations affecting branchial, renal and auditory development. Varying clinical expression of the disease between different families suggests that multiple loci may be involved. However, the possibility of genetic heterogeneity as the cause of clinical variability cannot be resolved until the gene(s) causing BOR syndrome are mapped. DNA from four generations of a family with autosomal dominant BOR syndrome have been typed with a series of genetic markers on the long arm of chromosome 8. Using two point linkage analysis, a significant lod score of Z = 4.0 at theta = 0.05 was obtained with the D8S165 microsatellite marker. Multipoint analyses with 8q markers place the gene for BOR between the markers D8S87 and D8S165.

Abnormalities, Multiple↗
PubMed1992

Hearing with the bone-anchored hearing aid (BAHA, HC 200) compared to a conventional bone-conduction hearing aid.

Sixteen patients have been fitted with a standard bone-anchored hearing aid (HC 200), to replace their conventional bone-conduction aid. The average pure tone threshold at 0.5, 1 and 2 kHz varied from 35 to 75 dB HL, with a sensorineural component varying from 0 to 30 dB HL. The patients' performance with the bone-anchored aid was compared to that with the conventional bone-conduction aid in an acoustic-free field. The maximum phoneme score in quiet was 100% in most patients; in 6 patients, the score with the bone-anchored aid was better (range from 5 to 10%). The speech-in-noise ratio was significantly better in 11 patients (range from -1.4 to -8 dB). None of the patients had poorer results on either test with the bone-anchored aid. The improved speech recognition was ascribed to better performance of the hearing aid in the higher frequency range (above 2 kHz) and to relatively less distortion.

Adolescent↗
PubMed1992

The super-bass bone-anchored hearing aid compared to conventional hearing aids. Audiological results and the patients' opinions.

Twelve patients with severe mixed hearing loss (PTA ranging from 70 to 108 dB HL) were provided with the percutaneous 'super-bass HC 220' bone-anchored hearing aid (BAHA) to replace their former hearing aid. Five had previously worn an air-conduction hearing aid (behind-the-ear type, BTE) which could no longer be used because of recurrent otorrhoea; the others had previously worn a conventional (transcutaneous) bone-conduction hearing aid (CBHA) which had caused serious complaints, such as headaches or skin irritation. Free-field speech audiometry in the subgroup of patients who used to wear a CBHA revealed that the maximum intelligibility score with the BAHA was equal to or better than that obtained with the CBHA (range from 0 to +27%). In three of the five patients who used to wear a BTE, the speech scores were poorer with the BAHA than with the BTE (range from -13 to -40%). For the remaining two patients, the difference in scores was 0 and +10%. In conclusion, speech recognition with the BAHA HC220 in the patients with severe mixed hearing loss was comparable to, or better than, that with a CBHA. Compared to an air-conduction hearing aid, the results may be considerably poorer. The results of the questionnaire were in good agreement with the measurements and support the conclusions.

Adolescent↗
PubMed1992

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).

Employing various probes from the proximal part of the Xq21 region, which is known to harbor the DFN3 gene, we have investigated 13 unrelated male probands with X-linked deafness, to detect possible deletions. For two of these patients, microdeletions could be detected by using probe pHU16 (DXS26). One of these deletions also encompasses locus DXS169, indicating that it extends farther toward the centromere. The presence of normal hybridization patterns in the DNA of 25 unrelated control males suggests that these deletions are the primary cause of progressive mixed deafness in these patients. If so, their molecular characterization may pave the way for the identification and isolation of the corresponding gene.

Chromosome Deletion↗
PubMed1991

[A hearing aid anchored in the cranial bone for amplification of bone conduction].

The purpose of this study was to compare hearing and understanding with a bone conduction hearing aid of a new type and with conventional models. The new instrument, BAHA (bone anchored hearing aid) is connected with the skull percutaneously rather than transcutaneously as with the conventional instruments. In the ENT department of Nijmegen University Hospital the understanding of speech with both types of hearing aid was evaluated thoroughly. The patients had a middle-ear loss with in addition an inner-ear loss of 60 dBHL at most. A conventional air conduction hearing aid (behind or inside the ear) was unsuitable for them because of, for instance, chronic runny ears or anomalies of the auditory meatus. A conventional bone conduction hearing aid containing a transducer pressing on the skin was rejected because of poor understanding or serious side effects such as headache and pressure pains. At the first session a titanium screw was implanted in the skull behind the ear. The percutaneous superstructure was put into place a few months later at a second session. In none of the patients were there peroperative problems or postoperative infections of any importance. Understanding of speech in silence and in noise was evaluated with the BAHA and with the conventional aid. Differences in understanding of speech were regarded as significant if they amounted to more than twice the known intra-individual standard deviation. As to understanding of speech in silence, 7 of the 15 patients were found to understand significantly better with the BAHA than with a conventional aid. In the other patients no difference was found.(ABSTRACT TRUNCATED AT 250 WORDS)

Bone Conduction↗
PubMed1991

Surgery for congenital stapes ankylosis with an associated congenital ossicular chain anomaly.

The surgical findings and results are presented on 32 ears with congenital stapes ankylosis with an associated congenital anomaly of the ossicular chain. One third of the patients had a syndromal diagnosis. In 26 ears, stapedectomy could be performed. In 2 other ears, stapes ankylosis to the bony facial canal was mobilized successfully. In the 4 remaining ears, surgical intervention had to be limited to an exploratory tympanotomy for various reasons. The average hearing gain was 23 dB for the 28 ears on which stapes surgery had been performed. A substantial hearing gain of at least 15 dB was achieved in 19 of these 28 ears (68%). The end result was limited to a small extent by an average preoperative sensorineural component of 16 dB in the hearing loss. A review of the findings and results from other larger series in the literature are presented.

Adolescent↗
PubMed1991

The impact of a syndromal diagnosis on surgery for congenital minor ear anomalies.

Between 1964 and 1986, 104 ears of 86 patients with a minor congenital ear anomaly underwent an exploratory tympanotomy at the Institute of Otorhinolaryngology of the University Hospital Nijmegen. A classification of these anomalies is proposed based on the surgical findings and results. The 4 groups in this classification are: isolated stapes ankylosis, stapes ankylosis associated with an anomaly of the malleus and incus, an isolated anomaly of the malleus and incus with a mobile stapes footplate and finally, aplasia of the oval and/or round window. In a total of 29 ears (22 patients) out of these 104 ears, the anomaly formed part of a syndrome. The various syndromes and the anomalies encountered are discussed. The impact of a syndromal diagnosis on the outcome of reconstructive ear surgery is discussed per syndrome.

Abnormalities, Multiple↗
PubMed1991

Nonsyndromal profound genetic deafness in childhood.

About one-half of children with profound deafness have an autosomal recessive or autosomal dominant inherited type of deafness. The X-linked inherited types of deafness are rare. About one out of three profoundly deaf children has an autosomal recessive form of inherited deafness. At sometime during their life a syndromal diagnosis can be made in one out of four cases with an autosomal recessive form of deafness. Therefore in about 25% of all the children with profound deafness, a nonsyndromal autosomal recessive type of genetic deafness will be involved. It is still not clear how many different genes are responsible for this. The more severe the deafness in a child, the greater the chance that an autosomal recessive etiology is involved. The autosomal dominant inherited types of deafness are significantly more frequent in cases where the hearing loss in the best ear is less than 80-90 db. About one-half of the autosomal dominant inherited cases show a classical syndromal type of deafness based on clinical features. In the other half, some audiometrically recognizable types of deafness can be diagnosed after an autosomal dominant pattern of inheritance has been established. Additional genetic knowledge based on gene-linkage studies is needed to provide better tools for the more accurate diagnosis of genetic etiology in a profoundly deaf child. Adequate pedigrees are quite rare and such pedigrees are expected to become even more scarce as a result of a diminishing ratio of consanguineous marriages. It is necessary to start gene-linkage studies in these existing pedigrees to trace the genes responsible for this nonsyndromal type of profound genetic deafness in childhood.

Child↗
PubMed1991

Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I.

In 30 fully investigated family pedigrees in which there were at least two generations of people suffering from osteogenesis imperfecta type I (McKusick no. 16620), the data on 144 random offspring could be used for segregation analysis. The major characteristics, blue sclerae, fractures, and hearing loss, were present in every pedigree. Their penetrance was also calculated. Precise definitions were used in the study. The segregation ratio or observed: expected ratio was 70:72. The incidence of blue sclerae was 70:70 (100%), for fractures 61:70 (87%), and for hearing loss 30:70 (43%). There was a very clear relationship between age and the progression of the hearing loss. Dividing the offspring into two groups depending on whether or not male-to-male inheritance was present and performing segregation and penetrance calculation on these data did not produce any indications that there are two genetically distinguishable subtypes of osteogenesis imperfecta type I. In a smaller group of 107 offspring, calculations could be made on several separate generations.

Age Factors↗
PubMed1991

Stapes surgery in osteogenesis imperfecta: analysis of postoperative hearing loss.

The disappointing results in 12 of 58 stapedectomies, including 4 revision operations, performed on osteogenesis imperfecta patients were analyzed and compared with reports in the literature. It is concluded that the results described as disappointing were not always the product of the stapes operation. A progressive sensorineural hearing loss arising independently of the operation as a result of progression in the disease process of osteogenesis imperfecta appears to have a severe influence on the final hearing threshold.

Adolescent↗
PubMed1991

Causes of childhood deafness at a Dutch school for the hearing impaired.

This study was conducted on 162 hearing-impaired school pupils who were investigated as to the cause of their hearing loss. In 64 pupils (40%) a hereditary cause was recognized, and in 43 (27%), an acquired cause; in 55 (34%) the cause remained unknown, according to the criteria we used for defining a cause. Special attention was paid to the differences between the hereditary and acquired forms of deafness in relation to the degree of hearing loss. The study population therefore was divided into groups per 10 dB of hearing loss. Using this method we found that an autosomal dominant hearing loss occurred significantly more frequently among the less severe hearing disorders. This finding, which has not been seen in the literature, is important in genetic counseling for the deaf. Another remarkable finding was that Usher's syndrome, especially type 2 with a moderate hearing loss, was more frequent among the hearing-impaired subjects than we had expected.

Adult↗
PubMed1991

Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lip pits: an autosomal dominant inherited syndrome.

Branchiogenic syndromes such as branchio-oto-renal syndrome, Treacher Collins syndrome, and hemifacial microsomia are well delineated. From a clinical study in a large family spanning three generations, it can be concluded that the association of conductive deafness, commissural lip pits, preauricular sinuses, and external ear anomalies can be differentiated from the above-mentioned syndromes and is a separate autosomal dominant syndrome.

Abnormalities, Multiple↗
PubMed1991

Hearing gain after stapedotomy, partial platinectomy, or total stapedectomy for otosclerosis.

The differences in hearing gain 1 year after stapedotomy, partial platinectomy, or total stapedectomy for otosclerosis were studied separately at 0.5, 1, 2, 4, and 8 kHz with the data available from 311 consecutive primary operations performed between 1980 and 1982 in the University of Nijmegen Department of Otorhinolaryngology. Three groups of patients were matched for age, sex, clinical type of otosclerosis, and type of 0.6-mm all-Teflon piston. The hearing gain for air conduction was significantly better by an average of 7.4 dB for all frequencies combined after either stapedotomy or partial platinectomy compared to total stapedectomy.

Auditory Threshold↗