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W I Verhagen

Publications and source records attributed to W I Verhagen.

At least 19 recordsLinked to original sources
PubMed2001

Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH.

OBJECTIVE: To analyze the relationship between pure-tone hearing threshold and speech recognition performance in DFNA2/KCNQ4 and DFNA9/COCH, 2 types of high-frequency nonsyndromic hearing impairment. DESIGN: Case series with cross-sectional analysis of phoneme recognition scores related to age and hearing level. SETTING: University hospital. PATIENTS: Forty-five members of 4 separate families, all carrying 1 of 3 different mutations in the KCNQ4 gene at the DFNA2 locus (1p34); 42 members of 7 separate families, all carrying the same Pro51Ser mutation in the COCH gene at the DFNA9 locus (14q12-q13). RESULTS: The deterioration of speech recognition dropped to a 90% score at a higher level of hearing impairment (pure-tone-average at 1, 2, and 4 kHz) in DFNA2-affected patients (65 dB) than in DFNA9-affected patients (46 dB). CONCLUSION: At similar levels of hearing impairment, DFNA2/KCNQ4-affected patients showed better speech recognition performance than DFNA9/COCH-affected patients.

Adult↗
PubMed2001

Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family.

Cochleovestibular impairment was evaluated, in relation to age, in a longitudinal follow-up study on a Dutch family with a DFNA9 trait caused by a Pro51Ser mutation in the COCH gene on chromosome 14q12-q13. Fourteen cases were genotyped. The onset age of progressive impairment reported by the mutation carriers was between age 35 and 45 years. Pure-tone thresholds deteriorated by about 2-7 dB per year (mean 3.8 dB per year) in a variable, often asymmetrical, fashion. One mutation carrier developed recurrent episodes of vertigo accompanied by nausea and vomiting, resembling Ménière's disease. Two others developed special susceptibility for motion sickness and appeared to have a hyperactive vestibulo-ocular reflex. More advanced stages of vestibular impairment, i.e. vestibular hyporeflexia and complete vestibular areflexia, were eventually found in a number of cases. DFNA9/COCH should be considered as a possible cause in patients developing combined progressive cochlear and vestibular impairment, or suspected hereditary Ménière-like disease, from around middle age.

Adult↗
PubMed2000

Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9).

OBJECTIVE: To describe the decline of vestibulocochlear function in a man with vestibulocochlear dysfunction caused by a Pro51Ser mutation within the COCH gene on chromosome 14q12-13 (DFNA9). METHODS: A follow-up of more than 15 years was performed in a single case. Clinical investigations were supplemented by oculomotor, vestibular, and auditory tests. RESULTS: A 50-year-old man had had progressive sensorineural hearing loss and dysequilibrium for 15 years; he had been asymptomatic at the age of 35 years. He suffered from instability in the dark, head movement-dependent oscillopsia, paroxysmal positional vertigo, and vertigo with and without nausea. Hearing impairment started unilaterally, predominantly in the high frequencies. He also reported tinnitus. Disease progressed to severe bilateral high-frequency hearing impairment and vestibular areflexia. Fluctuation of vestibulocochlear function was documented and mentioned by the patient. CONCLUSIONS: Our patient proved to suffer from an autosomal dominant vestibulocochlear disorder caused by a COCH gene mutation. The remarkable medical history has some features in common with Meniere disease; however, there are also different clinical and neurophysiological features. In the family, phenotypic variability is present.

Adult↗
PubMed2000

Spinal arachnoiditis following subarachnoid haemorrhage: report of two cases and review of the literature.

Two patients with spinal arachnoiditis following subarachnoid haemorrhage are described. A complete spinal block was seen at the mid thoracic level with characteristics of spinal arachnoiditis. Only one patient had severe symptoms. Both patients were treated conservatively. Signs and symptoms diminished in time. A review of the literature is given and the aetiology is discussed.

Aged↗
PubMed2000

Cognitive functioning after whiplash injury: a meta-analysis.

Complaints on cognitive functioning are often reported in patients suffering from whiplash syndrome, although objective neuropsychological test results do not always support these. In addition, radiological abnormalities and anatomical lesions are found only in a minority of these patients. This has led to a controversy about its existence in the literature. In this systematic review, the results of 22 neuropsychological studies on whiplash were quantitatively analyzed, focusing on working memory, attention, immediate and delayed recall, visuomotor tracking, and cognitive flexibility. Our findings suggest that a consistent overall pattern of cognitive dysfunction can be demonstrated after whiplash injury through neuropsychological testing, both compared to healthy and to asymptomatic controls. Six months after the accident, improvement is found in working memory, attention, immediate recall, and visuomotor tracking. The results are discussed in the light of recent findings on the effect of cerebral dysfunction, malingering, pain-related factors, and the role of coping strategies and posttraumatic stress on neuropsychological test performance.

Brain Injury, Chronic↗
PubMed1999

[Intracerebral tuberculomas in a pregnant Somalian woman].

A pregnant Somalian woman aged 28 years, in the Netherlands for the last five years, suffered from a progressive hemiparesis, epilepsia, behavioural problems and low fever. Brain MRI showed multiple lesions with contrast enhancement. Extensive serologic and parasitologic tests on serum and cerebrospinal fluid did not disclose any cause. A brain biopsy revealed only necrosis, but bacterial culture and polymerase chain reaction (PCR) supplied the diagnosis of 'tuberculosis'. PCR on the cerebrospinal fluid remained negative. In the meantime the chest X-ray showed miliary tuberculosis and a spine MRI thoracic spondylodiscitis and a large paravertebral abscess. Subsequently the patient was treated successfully with tuberculostatic agents. Her healthy child which was born by caesarean section was treated with the tuberculostatic agents as well.

Adult↗
PubMed1999

[Whipple's disease].

Explore the source record for details and available documents.

Anti-Bacterial Agents↗
PubMed1999

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.

We analysed a Dutch family with autosomal dominant non-syndromic progressive sensorineural hearing loss and mapped the underlying gene defect by genetic linkage analysis to a 11.0 cM region overlapping the DFNA9 interval on chromosome 14q12-q13. Clinically, the Dutch family differs from the original DFNA9 family by a later age at onset and a more clearly established vestibular impairment. A gene that is highly and specifically expressed in the human fetal cochlea and vestibule, COCH (previously described as Coch5B2 ), was mapped to the DFNA9 critical region. Sequence analysis revealed a 208C-->T mutation in the COCH gene, resulting in a Pro51Ser substitution in the predicted protein in all affected individuals of the family but not in unaffected family members and 200 control individuals. The same mutation was also identified in three apparently unrelated families with a similar phenotype, suggesting the presence of a Dutch founder mutation. The function of COCH is unknown but several characteristics of the protein point to a structural role in the extracellular matrix. The mutant serine at position 51 is situated between cysteines and possibly interferes with proper COCH protein folding or its interaction with extracellular matrix proteins.

Age of Onset↗
PubMed1999

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.

We report the genetic analysis of one large Belgian and two small Dutch families with autosomal dominant non-syndromic progressive sensorineural hearing loss associated with vestibular dysfunction. Linkage studies in the Belgian family mapped the disease to the DFNA9 locus on chromosome 14. Mutation analysis of the COCH gene, which is responsible for DFNA9, revealed a missense mutation changing a highly conserved residue. One of the patients, who had an earlier age of onset in comparison with most of the affected family members, was shown to be homozygous for the mutation. After the mutation was found in the Belgian family, we discovered that the same missense mutation was also present in two Dutch families with similar cochleo-vestibular symptoms. In all three families with hearing loss and imbalance problems, >25% of the patients showed additional symptoms, including episodes of vertigo, tinnitus, aural fullness and hearing loss. Clinically, these symptoms are consistent with the criteria for Menière's disease. The importance of genetic factors in Menière's disease has been suggested on many occasions, but this study is the first report of a mutation in a gene leading to the symptoms of Menière's disease in a significant portion of the carriers. The COCH gene may be one of the genetic factors contributing to Menière's disease and the possibility of a COCH mutation should be considered in patients with Menière's disease symptoms.

Chromosomes, Human, Pair 14↗
PubMed1999

Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9.

OBJECTIVES: Analysis of phenotype-genotype correlation. STUDY DESIGN: Family study. METHODS: Auditory and vestibulo-ocular functions were examined in a Dutch family with autosomal dominantly inherited sensorineural hearing impairment caused by a 208C > T mutation in the COCH gene, located in chromosome 14q12-q13 (DFNA9). Linear regression analysis of individual longitudinal hearing threshold data (n = 11) on age was performed. RESULTS: Fifteen of the 16 genetically affected persons could be evaluated. They all developed hearing and vestibular impairment symptoms--and in many cases also cardiovascular disease--in the fourth to fifth decade. At the low frequencies (0.25-2 kHz), hearing loss started at the age of about 40 years and showed an average annual progression of approximately 3 dB, finally resulting in profound hearing losses. In two exceptional cases, annual progression attained levels of up to 24 dB. At the high frequencies (4-8 kHz), the average threshold increased from about 50 dB at the age of 35 years to about 120 dB at the age of 75 years (which amounts to 1.8 dB annual threshold increase). All affected individuals tested showed normal ocular motor functions. The patients older than 46 years generally showed absence of the vestibulo-ocular reflex, but their cervico-ocular reflex was enhanced compared with normal subjects, whereas those aged 40 to 46 years showed either severe vestibular hyporeflexia or unilateral caloric areflexia. CONCLUSION: These findings suggest a gradual development of cochleovestibular impairment caused by the new mutation found.

Adult↗
PubMed1998

A giant cell tumor of the sacrum or a soft tissue giant cell tumor? A case report.

STUDY DESIGN: A case report. OBJECTIVE: Giant cell tumors are rare primary bone tumors. Generally, these tumors are expanding osteolytic lesions, but soft tissue giant cell tumors can occur. This is a case report of an unusual incidence of a giant cell tumor within the spinal sacral canal, in which there was no involvement of the surrounding bone or ligament structures and that was signaled by radicular pain. The pathologic course of the tumor is described. SUMMARY OF BACKGROUND DATA: A 24-year-old woman had monoradicular pain in the right leg in the region of S2. Neuroradiologic examination showed a mass within the sacral spinal canal compromising the right S2 root, with no sign of bone involvement. METHODS: A sacral laminectomy was performed. A tumor was located entirely intraspinally and extradurally and was removed completely. A giant cell tumor was identified in histologic examination. RESULT: The patient recovered completely. No local regrowth or metastasis occurred during a 20-month follow-up. CONCLUSION: The treatment of choice in giant cell tumors is complete surgical resection. Radiotherapy is recommended in cases of subtotal resection. Careful follow-up is warranted, because recurrence and metastasis are not uncommon.

Adult↗
PubMed1998

Familial congenital hydrocephalus and aqueduct stenosis with probably autosomal dominant inheritance and variable expression.

A kindred is reported on with suspected autosomal dominant congenital hydrocephalus and aqueduct stenosis. In contrast to patients with X-linked congenital hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) our patients were not mentally retarded and they did not show any pyramidal tract dysfunction or clasped thumbs; the pyramids were not affected either, as was confirmed by autopsy, CT or MRI. Molecular genetic studies in our patients have not revealed abnormalities of eight exons of the L1 neural adhesion molecule gene that is related to HSAS.

Adult↗
PubMed1998

The whiplash syndrome: a psychophysiological and neuropsychological study towards attention.

Whiplash patients often have physical, psychosomatic and cognitive complaints, although clear neurological and neuropsychological signs of damage are absent. However, in some studies a functional loss of attention was found. In order to compare attentional dysfunctions in whiplash patients with age-matched controls, attention was measured neuropsychologically with the aid of the PASAT, and psychophysiologically with the aid of the prepulse inhibition paradigm. In addition, the reactivity for intense acoustic stimulation was investigated. The POMS and the SCL-90 were used to evaluate psychological and somatic signs. The results showed that whiplash patients (n=24) had lower scores on the PASAT and higher scores on the questionnaires compared to healthy controls (n=21). However, no group differences could be determined on the psychophysiological variables. Furthermore, the PASAT and prepulse inhibition data did not correlate. The lower PASAT scores indicate that whiplash patients seem to have deteriorated divided attention, but an attention deficit as measured with the prepulse inhibition paradigm is not disclosed. Finally, there were no signs of a heightened reactivity of the auditory system, which casts doubts on a presumed heightened sensitivity for sound in whiplash patients.

Acoustic Stimulation↗
PubMed1998

Surgical management of ulnar nerve compression at the elbow: an analysis of the literature.

OBJECT: Surgical treatment for cubital ulnar nerve compression includes medial epicondylectomy, simple decompression, or anterior transposition (subcutaneous, intramuscular, or submuscular). There is a dearth of prospective randomized studies on which to base guidelines for choosing one operative treatment over another. The authors review the literature on this subject and present their findings. METHODS: The authors reviewed the literature from January 1970 to July 1997. Two authors decided independently whether an article should be included for review based on previously formulated inclusion and exclusion criteria. In addition to demographic information, data concerning preoperative status and outcome were extracted. For statistical analyses chi-square and Kruskal-Wallis tests were performed. Irrespective of their preoperative status, patients with simple decompression had the best outcome, whereas those with anterior subcutaneous and submuscular transposition had the worst. If outcome was related to the patient's preoperative status, a significant difference was not found among the various groups for those patients with a preoperative McGowan Grade 2. However, for those with McGowan Grade 3 (severe) symptoms, patients with anterior intramuscular transposition had the best outcome followed by those with simple decompression and anterior submuscular transposition. Statistical analysis was not possible for patients with McGowan Grade 1 because of the small numbers of patients in several treatment modality groups. CONCLUSIONS: Formulating a uniform guideline for operative treatment is not possible based on the results of this study. However, the authors believe that support is given to their policy, which is primarily to perform a simple decompression. Its surgical simplicity with preservation of the anatomy, especially the vascularization, and the possibility of rapid postoperative rehabilitation are also taken into consideration. If subluxation is found intraoperatively, anterior transposition is proposed.

Elbow↗
PubMed1997

Cortical blindness.

A 79-year-old woman with persistent cortical blindness caused by bilateral temporo-occipital infarctions was followed for 8 months. She had no light or visual motion perception. Our patient's visual imagery was intact, which was demonstrated when drawing elementary shapes; however, her drawing of objects was poor. Optokinetic nystagmus could not be elicited, but the vestibulo-ocular reflex (VOR) seemed intact. Although she was able to suppress her VOR by 'fixating' her outstretched hand which moved in phase with her head and body, she showed saccadic tracking eye movements in an attempt to visually 'follow' the self-generated movements of her outstretched hand, while her body and head were stationary. Such saccadic tracking seemed to be different from the previously described smooth tracking of self-moved targets by patients with acquired blindness caused by anterior visual pathway dysfunction.

Aged↗