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C Cremers

Publications and source records attributed to C Cremers.

24 records · Page 2Linked to original sources
PubMed1983

Renal disorders in the branchio-oto-renal syndrome.

Intravenous urography and measurements of renal function were performed in 16 patients suffering from branchio-oto-renal syndrome. Malformations were visible by intravenous urography in all patients. Four out of 16 patients had a diminished glomerular filtration rate. Renal histology available in two patients revealed oligomeganephronic renal hypoplasia and multicystic dysplasia, respectively. Without renal agenesis or severe renal hypoplasia or dysplasia present in early infancy, renal abnormality does not seem to be a progressive disorder.

Abnormalities, Multiple↗
PubMed1981

Familial non-chromaffinic paragangliomas (glomus tumors) : clinical aspects.

The clinical aspects of a study of a large family suffering from glomus tumors are presented. A great deal of fragmentary information is obtained from the literature, but never before has so much information been obtained from one single family. The aim of this study was to screen the individual members of this family by careful history, with special interest taken in symptoms which could be indicative of glomus tumors, and by a physical examination. Because these tumors may be without symptoms or signs, the screening was extended with dynamic angioscintigraphy.

Adolescent↗
PubMedDate not supplied

Semen analysis in the Usher syndrome type 2A.

Semen analysis in patients with Usher syndrome suggested that defective connecting cilia axonemes may be involved in the irreversible, progressive loss of photoreceptors in Usher's syndrome. In the framework of clinical genetic research into Usher syndrome, a pilot study was set up to test these findings. The semen of 6 Usher 2A patients was analysed. The fertility status of the study group of Usher 2A patients was evaluated, including semen analysis, supplemented by electron microscopic examination of the spermatozoa. Except for a significantly increased pH value, no abnormalities were found in the functional semen analysis, whereas electron microscopy revealed microtubular tail abnormalities. The latter finding was of little relevance, however, in view of the normal motility of the spermatozoa observed in these patients. There were no fertility problems in our group of Usher 2A patients, nor have any been mentioned in Usher patients in general. Earlier study findings were not supported by our data.

Adult↗
PubMedDate not supplied

Autosomal dominant non-syndromal low-frequency sensorineural hearing impairment linked to chromosome 4p16 (DFNA14): statistical analysis of hearing threshold in relation to age and evaluation of vestibulo-ocular functions.

A Dutch kindred was studied with low-frequency sensorineural hearing impairment linked to a new locus on chromosome 4p16 (DFNA14). Of the affected individuals, 21 (aged 11-75 years) were examined and the most recent audiogram was used for cross-sectional analysis of hearing threshold in relation to age. Suitable serial audiograms were available for a longitudinal analysis in nine cases: they had been obtained from the age of six years onwards and covered a follow-up period from 14 to 36 years. The presumably congenital (offset) component of SNHI was extrapolated or estimated from average values and offset thresholds were found of about 45 dB at 0.25-1 kHz, 25 dB at 2 kHz and 10 dB at 4-8 kHz. Significant progression in hearing impairment occurred at all frequencies, but could be attributed to presbyacusis. The combination of congenital, stationary low-frequency SNHI and presbyacusis resulted in an up-sloping audiogram in the first five decades of life, which evolved into a flat-type audiogram in the sixth or seventh decade and a down-sloping audiogram at a more advanced age. With few exceptions, vestibular function was intact.

Adolescent↗