Papers by Cor W.r.j. Cremers
The Annals of otology, rhinology, and laryngology, 2008
In previous studies, an updated sonotubometry setup was tested in healthy adults and children to ... more In previous studies, an updated sonotubometry setup was tested in healthy adults and children to test its validity and reproducibility in the assessment of the ventilatory function of the eustachian tube (ET). The results were promising, but further investigations were needed to confirm the discriminative potential of this sonotubometry setup. Our objective in the present study was to test the discriminative potential of an updated sonotubometry setup in children with cleft palate. The ET ventilatory function was tested in 56 children with cleft palate, ie, children with impaired ET function, and compared to the outcomes in 61 healthy children who served as a control group. All of the children were between 5 and 9 years of age. To test the reproducibility, we performed the sonotubometric testing in 2 sessions of 10 acts of swallowing each. Spearman's coefficient was used to test the correlation between the 2 sets of measurements. The results of measurements in the cleft palate g...
Scandinavian audiology, 1991
Frequency resolution was studied in patients with a unilateral congenital ear defect (atresia), w... more Frequency resolution was studied in patients with a unilateral congenital ear defect (atresia), who were successfully operated on. Psychophysical tuning curve (PTCs) were obtained. A comparison of the shapes of the PTCs revealed that the average curve for all the patients was much alike for the operated and non-operated (normal) ear: broad tuning curves, as reported from animal studies, were not found. After appropriate corrections were made for the small remaining air-bone gaps, as seen in all patients, the PTCs of all the operated ears lay reasonably well within the 2 S.D. range of the average PTC obtained in subjects with normal hearing.
Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP), 2006
The aim of the study was to estimate voice complaints, risk factors for voice complaints and hist... more The aim of the study was to estimate voice complaints, risk factors for voice complaints and history of voice problems in student teachers before they embarked on their professional teaching career. A cross-sectional questionnaire survey was performed among female student teachers. The response rate was 72% and 457 questionnaires were analyzed. Voice complaints at the moment and/or during the past year were reported by 39.6% subjects. Subjects with voice complaints had significantly higher VHI scores than subjects without voice complaints. In comparison to subjects without voice complaints, overall, subjects with voice complaints reported more frequently that vocal loading factors, physical factors, environmental factors and psychological factors had a negative influence on their voice. Subjects with voice complaints reported more frequently a history of voice complaints during puberty and before puberty in comparison to subjects without voice complaints. Voice complaints in student...
The Annals of otology, rhinology, and laryngology, 2004
We examined the clinical presentation in patients with a histologically proven ingrowth of the co... more We examined the clinical presentation in patients with a histologically proven ingrowth of the cochlear nerve by acoustic neuroma to see whether this differs from what is known from large acoustic neuroma series. In total, 85 acoustic neuromas had an en bloc dissection to study histologically the relation between the cochlear nerve and the acoustic neuroma. In 21 of these 85 specimens, there was histologic proof of invasion of the cochlear nerve by the tumor. For 13 of these 21 tumors, sufficient clinical data could be retrieved to describe the clinical presentation in these patients. We collected clinical data such as age, sex, presenting symptoms, duration of symptoms, tone audiograms, tumor size measurements and volumetric calculations, and latency interval data I-V of brain stem evoked response audiometry and calculated whether there was any correlation among those data. We also compared these clinical data with the data from some large acoustic neuroma series. No clear differen...
Advances in oto-rhino-laryngology, 2002
Advances in oto-rhino-laryngology, 2002
Advances in oto-rhino-laryngology, 2002
... pp 172–183 The Clinical Spectrum of Maternally Transmitted Hearing Loss Robbert JH Ensink, Pa... more ... pp 172–183 The Clinical Spectrum of Maternally Transmitted Hearing Loss Robbert JH Ensink, Patrick LM Huygen, Cor WRJ Cremers ... lys) gene: A8344G; A8356G Large heteroplasmic duplications and deletions in mtDNA Heteroplasmic point mutation in tRNA (ser)(ucn) gene. ...
Advances in oto-rhino-laryngology, 2002
Advances in oto-rhino-laryngology, 2002
Nederlands tijdschrift voor geneeskunde, Jan 25, 2002
Wolfram syndrome patients are mainly characterised by juvenile onset diabetes mellitus and optic ... more Wolfram syndrome patients are mainly characterised by juvenile onset diabetes mellitus and optic atrophy. A synonym is the acronym DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy, deafness. Diabetes insipidus and sensorineural high-frequency hearing impairment are important additional features. This rare autosomal recessively inherited neurodegenerative syndrome is caused by mainly inactivating mutations in the WFS1 gene. It is located at chromosome 4p16 and encodes wolframin, a transmembrane protein. No function has yet been ascribed to this protein.
The Annals of otology, rhinology, and laryngology, 1996
Audiograms were traced or additionally performed on 23 Usher's syndrome patients in 10 Dutch ... more Audiograms were traced or additionally performed on 23 Usher's syndrome patients in 10 Dutch multi-affected families, all linked to chromosome 1q (USH2A locus). Serial audiograms, available in 13 patients, were used for a regression analysis of binaural pure tone average on age (follow-up, 9 to 32 years) to test for "significant progression," ie, a significant regression coefficient, here called the "annual threshold increase" (ATI, expressed in decibels per year). A significant ATI (> 1 dB/y) was observed in 3 patients. Analysis of variance of ATI demonstrated significant heterogeneity; hearing loss was either stable or progressive. This implies a significant clinical heterogeneity. A similar analysis performed on our progressive USH2A cases and "type III" cases previously reported by others (ATI of 1 to 5 dB/y), some of which were recently linked to chromosome 3q (USH3 locus), failed to show any significant heterogeneity in the progression of h...
International journal of pediatric otorhinolaryngology, 1996
Camurati-Engelmann disease (CED, MIM # 131300) was diagnosed in a 27-year-old woman, who had pain... more Camurati-Engelmann disease (CED, MIM # 131300) was diagnosed in a 27-year-old woman, who had pain in her lower legs. There was no history of hearing loss (or CED) in her family. She had been suffering from progressive hearing impairment since childhood. Serial audiograms demonstrated progressive mixed hearing loss from the age of 11 years onwards, for which she underwent successful stapes surgery bilaterally at the age of 13-18 years. Clinical ('juvenile') otosclerosis was found with stapes footplate fixation. Unfortunately, the sensorineural hearing loss component proved to be progressive bilaterally after surgery. At the age of 30 years, she experienced more rapid deterioration of her hearing loss in the right ear and episodes of vertigo. Vestibular examinations demonstrated progressive vestibular impairment 'otospongiotic' lesions with encroachment on the cochlear and vestibular labyrinth were found on high resolution CT scans at the age of 40 years; the internal ...
Bijblijven, 2004
Samenvatting In dit hoofdstuk worden de verscheidene vormen van congenitale slechthorendheid en d... more Samenvatting In dit hoofdstuk worden de verscheidene vormen van congenitale slechthorendheid en doofheid beschreven naar lokalisatie van het gehoorverlies: uitwendig oor-middenoor-binnenoor. Uitwendige oorafwijkingen (major congenitale ano-maliee¨n) worden onderverdeeld in 3 typen, waarbij afhankelijk van het type besloten kan worden tot chirurgische interventie of hoortoestelaanpassing. De typen worden gedefinieerd op basis van afwijkingen aan de gehoorgang, oorschelp en middenoor. Aangeboren middenooranomaliee¨n (minor congenitale anomaliee¨n) worden onderverdeeld in 4 klassen. Ook hierbij is de behandeling (chirurgie of hoortoestelaanpassing) afhankelijk van de klasse. Onderscheid wordt gemaakt op basis van locatie van gehoorbeenketenfixatie, gehoorbeenketenonderbreking en afwijking aan het ronde of ovale venster. De recent ontwikkelde neonatale gehoorscreening in de eerste levensweken maakt vroegdetectie mogelijk. Verschillende oorzaken van perceptieve slechthorendheid worden besproken, evenals audiologische en medische diagnostiek en de multidisciplinaire behandeling.
International journal of pediatric otorhinolaryngology, 1995
Molecular vision, Jan 23, 2010
It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene en... more It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss (NSHL; DFNB31) and Usher syndrome type II (USH2D). We screened DFNB31 in a large cohort of patients with different clinical subtypes of Usher syndrome (USH) to determine the prevalence of DFNB31 mutations among USH patients. DFNB31 was screened in 149 USH2, 29 USH1, six atypical USH, and 11 unclassified USH patients from diverse ethnic backgrounds. Mutation detection was performed by direct sequencing of all coding exons. We identified 38 different variants among 195 patients. Most variants were clearly polymorphic, but at least two out of the 15 nonsynonymous variants (p.R350W and p.R882S) are predicted to impair whirlin structure and function, suggesting eventual pathogenicity. No putatively pathogenic mutation was found in the second allele of patients with these mutations. DFNB31 is not a major cause of USH.
International Journal of Pediatric Otorhinolaryngology, 2013
To report the hearing impairment in a new autosomal recessive metabolic disorder due to a mutatio... more To report the hearing impairment in a new autosomal recessive metabolic disorder due to a mutation in the ANKH gene and to report the outcomes of exploratory tympanotomy. Retrospective chart study. Tertiary referral center. One large consanguineous family was examined. Three patients underwent exploratory tympanotomy. Exploratory tympanotomies in three patients. Medical and otological histories; postoperative hearing outcomes. In the patients who received tympanotomies, a postoperative hearing gain of between 5 and 20 dB was noted, with a residual air-bone gap of between 6 and 35 dB (follow-up between 4 and 67 months). The sensorineural component of the hearing impairment varies greatly, between 4 and 23 dB, and this factor might also affect the final hearing outcome. Exploratory tympanotomy might improve the hearing outcome in patients with this syndrome and therefore surgery has a limited audiometric benefit in general. Based on anatomical findings, a congenital origin for the ossicular chain anomaly seems likely. It remains unclear whether the sensorineural component of the hearing impairment is progressive and this should be investigated further.
Jaro-journal of The Association for Research in Otolaryngology, 2008
Advances in Oto-Rhino-Laryngology, 2007
A stapes gusher is the result of a congenital inner ear anomaly showing at tone audiometry a cond... more A stapes gusher is the result of a congenital inner ear anomaly showing at tone audiometry a conductive or mixed hearing loss. The conductive part of the hearing loss could lead to the thought to explore the middle ear. The congenital origin should lead to a high resolution. CT-scanning to evaluate a widening of the internal acoustic canal. Repeated audiometry could show especially a large conductive impairment in the lowest frequencies with a closure of the airbone gap at 2 khz and a high sensorineural high frequency loss at 4 and 8 khz. Contralateral stapedial reflexes may be present. Since the x-recessive mixed deafness syndrome (DFN3) frequently involves males with an early childhood hearing impairment, clinical suspicion should be high. When stapes surgery is considered a precise medical history is essential regarding on the start of the hearing impairment. A continuous suspicion will guide to the audiological, radiological and molecular genetic clues to trace the correct diagnosis before embarking on stapes surgery.
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Papers by Cor W.r.j. Cremers