[What do you mean no anamnestic interview in the cytostatics outpatient clinic?].
Explore the source record for details and available documents.
Antineoplastic Agents↗
Biomedical subjects
M Wagenaar
Publications and source records attributed to M Wagenaar.
[Nursing transfer in chemotherapy].
Explore the source record for details and available documents.
Ambulatory Care↗
The effect of low-dose acetazolamide on the ventilatory CO2 response curve in the anaesthetized cat.
1. The effect of 4 mg kg-1 acetazolamide (I.V.) on the slope (S) and intercept on the Pa,CO2 axis (B) of the ventilatory CO2 response curve of anaesthetized cats with intact or denervated carotid bodies was studied using the technique of dynamic end-tidal forcing. 2. This dose did not induce an arterial-to-end-tidal PCO2 (P(a-ET),CO2) gradient, indicating that erythrocytic carbonic anhydrase was not completely inhibited. Within the first 2 h after administration, this small dose caused only a slight decrease in mean standard bicarbonate of 1.8 and 1.7 mmol l-1 in intact (n = 7) and denervated animals (n = 7), respectively. Doses of acetazolamide larger than 4 mg kg-1 (up to 32 mg kg-1) caused a significant increase in the P(a-ET),CO2 gradient. 3. In carotid body-denervated cats, 4 mg kg-1 acetazolamide caused a decrease in the CO2 sensitivity of the central chemoreflex loop (Sc) from 1.52 +/- 0.42 to 0.96 +/- 0.32 l min-1 kPa-1 (mean +/- S.D.) while the intercept on the Pa,CO2 axis (B) decreased from 4.5 +/- 0.5 to 4.2 +/- 0.7 kPa. 4. In carotid body-intact animals, 4 mg kg-1 acetazolamide caused a decrease in the CO2 sensitivity of the peripheral chemoreflex loop (Sp) from 0.28 +/- 0.18 to 0.19 +/- 0.12 l min-1 kPa-1. Se and B decreased from 1.52 +/- 0.55 to 0.84 +/- 0.21 l min-1 kPa-1, and from 4.0 +/- 0.5 to 3.0 +/- 0.6 kPa, respectively, not significantly different from the changes encountered in the denervated animals. 5. It is argued that the effect of acetazolamide on the CO2 sensitivity of the peripheral chemoreflex loop in intact cats may be caused by a direct effect on the carotid bodies. Both in intact and in denervated animals the effects of the drug on Sc and B may not be due to a direct action on the central nervous system, but rather to an effect on cerebral vessels resulting in an altered relationship between brain blood flow and brain tissue PCO2.
Acetazolamide↗
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been shown to be caused by mutations in the myosin VIIa gene (MYO7A) located on 11q14. In the current study, a panel of 189 genetically independent Usher I cases were screened for the presence of mutations in the N-terminal coding portion of the motor domain of MYO7A by heteroduplex analysis of 14 exons. Twenty-three mutations were found segregating with the disease in 20 families. Of the 23 mutations, 13 were unique, and 2 of the 13 unique mutations (Arg212His and Arg212Cys) accounted for the greatest percentage of observed mutant alleles (8/23, 31%). Six of the 13 mutations caused premature stop codons, 6 caused changes in the amino acid sequence of the myosin VIIa protein, and 1 resulted in a splicing defect. Three patients were homozygotes or compound heterozygotes for mutant alleles; these three cases were Tyr333Stop/Tyr333Stop, Arg212His-Arg302His/Arg212His-Arg302His, and IVS13nt-8c-->g/Glu450Gln. All the other USH1B mutations observed were simple heterozygotes, and it is presumed that the mutation on the other allele is present in the unscreened regions of the gene. None of the mutations reported here were observed in 96 unrelated control samples, although several polymorphisms were detected. These results add three patients to single case reported previously where mutations have been found in both alleles and raises the total number of unique mutations in MYO7A to 16.
Alleles↗
Carriers of the Usher syndrome type IB: is audiometric identification possible?
Some studies in the past have shown that carriers of genes for recessive deafness cannot be identified by standard audiometry. However, remarkable results with regard to the identification of heterozygotes have been reported using Békésy audiometry and Audioscan audiometry. In the present study, nine obligate carriers from five families with the Usher syndrome type IB were examined. Methods that reflect the function of the cochlea, including pure-tone audiometry, Audioscan audiometry, and otoacoustic emission measurements were used to detect (subtle) audiometric manifestations of heterozygosity. Abnormalities in hearing sensitivity were found in some obligate carriers but to the same extent in some of the controls. No statistically significant differences were found in the presence of audiometric abnormalities between carriers and controls. Additional audiologic measurements indicated that if hearing loss was present in Usher type IB carriers, it was presumably of cochlear origin. It is concluded that carriers of the Usher syndrome type IB cannot be identified properly via standard audiometric methods.
Adult↗
Clinical findings in obligate carriers of type I Usher syndrome.
Seventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage studies were performed and six families showed linkage to chromosome region 11q13.5 while 3 families have so far failed to show linkage to the candidate regions. Eight obligate carriers had an abnormal pure-tone audiogram. Two different audiometric patterns could be distinguished when hearing loss was corrected for age and sex. Four carriers (24%) had significant sensorineural hearing loss (SNHL) which increased at higher frequencies. The other 13 carriers had SNHL of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Vestibular findings were generally normal. Electro-oculography demonstrated a significant lower mean light peak/dark trough ratio in Usher type I carriers compared to normal control individuals. The methods used in this study were found not to be specific enough to clinically identify carriers of Usher type I syndrome. Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities.
Adult↗
[Diagnosis of pneumothorax not improved by additional roentgen pictures of the thorax in the expiration phase].
OBJECTIVE: To evaluate whether an expiratory chest roentgenogram adds anything to the results obtained by a standard inspiratory chest roentgenogram in patients with a pneumothorax. DESIGN: Retrospective analysis and blinded re-evaluation of the radiographs. SETTING: Free University Hospital, Amsterdam. METHOD: Of 59 patients with a proven pneumothorax the chest roentgenograms at the time of the pneumothorax (54 inspiratory and 46 expiratory roentgenograms) were evaluated independently by 4 investigators in random order, as were 28 roentgenograms of the same patients made on different occasions. RESULTS: On all expiratory chest roentgenograms the pneumothorax was seen, of the 54 inspiratory ones two investigators missed one very small apical pneumothorax. All 28 control roentgenograms were scored correctly. No reliable additional information was obtained from the expiratory X-rays with regard to the cause of the pneumothorax. CONCLUSION: Expiratory chest roentgenograms are not indicated as a routine investigation for patients in whom pneumothorax is suspected.
Humans↗
Ophthalmologic findings in Usher syndrome type 2A.
Thirty-seven patients, comprising 24 familial cases and 13 isolated patients with Usher syndrome type II (USH2), underwent ophthalmologic examination. Based on the degree of hearing loss, normal vestibular function, and gene-linkage analysis, familial cases were assumed to have USH2A. An analysis of genetic heterogeneity failed to reveal the presence of a second locus in the Dutch population. Although the patients appear to belong to a genetically homogeneous group, remarkable ophthalmologic variability was found. Corrected visual acuity decreased with age and remarkable differences in visual acuity were found within one family. Fundoscopic findings were classified as type A if attenuated vessels and bone corpuscles in all quadrants were found or as type B if findings other than these were found. The prevalence of type A significantly increased with age.
Adolescent↗
Rapid determination of neutralizing antibodies to Semliki Forest virus in serum by enzyme immunoassay in cell culture with virus-specific monoclonal antibodies.
We describe in this study a rapid enzyme immunoassay for the titration of neutralizing antibodies in serum against Semliki Forest virus. For this assay L cells were added to preincubated virus-antiserum mixtures to form monolayers. Six hours after infection by residual, nonneutralized virus, the monolayers were fixed, and the E2 glycoprotein of Semliki Forest virus on the surface of infected cells was quantified with an E2-specific, peroxidase-labeled monoclonal antibody (UM 5.1). The serum antibody titer was defined arbitrarily as the inverse value of that dilution of serum associated with a 25% inhibition of control absorbance values. These titers of both early and later mouse immune sera were similar to those determined in simultaneously performed 50% plaque reduction tests. The results indicate that the enzyme immunoassay (duration, 9 h) is reliable and compares favorably with the conventional plaque reduction test (duration, 25 h) in rapidity, ease of performance, and objectivity.
Animals↗
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↗