Biomedical subjects

N Lemkens

Publications and source records attributed to N Lemkens.

3 recordsLinked to original sources

PubMed2006

KCNQ4: a gene for age-related hearing impairment?

Age-related hearing impairment (ARHI) is the most common sensory impairment among the elderly. It is a complex disorder influenced by genetic as well as environmental factors. SNPs in a candidate susceptibility gene, KCNQ4, were examined in two independent Caucasian populations. Two quantitative trait locus (QTL) values were investigated: Zhigh and Zlow, a measure of high and respectively low frequency hearing loss. In the first population, the statistical analysis of 23 genotyped SNPs spread across KCNQ4 resulted in significant p-values for two SNPs for Zhigh-SNP9 (NT_004511:g.11244177A > T) and SNP15 (NT_004511:g.11257005C > T; NP_004691:p.Ala259Ala), and one SNP for Zlow-SNP12 (NT_004511:g.11249550A > T). The linkage disequilibrium (LD) structure of KCNQ4 was subsequently determined in a 34-kb region surrounding the significant SNPs, resulting in three LD-blocks. LD-block 1 contains SNP9 and covers an area of 5 kb, LD-block 2 measures 5 kb and surrounds SNP13 (NT_004511:g.11253513A > G) to SNP18 (NT_004511:g.11257509G > A; NP_004691:p.Thr293Thr), and LD-block 3 spans 7 kb. Five tag-SNPs of block 1 and 2, and 2 extra SNPs were subsequently genotyped in the second population. Again, several SNPs were positively associated with ARHI: one SNP (SNP18) for the high frequencies and three SNPs (SNP9, SNP12, and SNP18) for the low frequencies, although only a single SNP (SNP12) resulted in significant p-values in both populations. Nevertheless, the associated SNPs of both populations were all located in the same 13-kb region in the middle of the KCNQ4 gene.

Adult↗

PubMed2003

Speech recognition tests in sensorineural hearing loss.

The ability to understand speech must be considered the most important measurable aspect of human auditory function. Due to the innovative developments in hearing aids and cochlear implants, there has been a renewed interest in speech recognition testing. During recent years, the start of several multi-centre studies have increased the urge to come to some consensus on the use of different speech materials. In this article a global overview of existing types of speech material in Dutch will be given. For each type, there is a reference to similar speech audiometric tests in French, English and German.

Audiometry, Speech↗

PubMed2002

Interpretation of pure-tone thresholds in sensorineural hearing loss (SNHL): a review of measurement variability and age-specific references.

When assessing a patient with a sensorineural hearing impairment, the most simple and most widely available technical investigation is pure-tone audiometry. Although it is a subjective measure, the test is very reliable if the patient is cooperative. In this paper we review standards and test-retest reliability for pure-tone audiometry. A pure-tone threshold measurement at a single frequency has a chance of 90% to be repeated between -10 dB and +10 dB compared to the first measurement, assuming no real change in hearing thresholds has occurred. It is also of great importance to use correct gender- and age-specific reference values when interpreting pure-tone threshold measurements. Several large-scale epidemiological studies have been conducted during recent years, and have provided us with reliable gender- and age-specific references. A method to take into account the age-related deterioration is presented. In this method, Z-score audiograms represent traditional thresholds in an age- and gender-independent way. At each frequency, the Z-score value is the number of standard deviation units that the threshold differs from the median value for the otologically normal population (ISO 7029).

Adult↗