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Biomedical subjects

Aruna Bansal

Publications and source records attributed to Aruna Bansal.

4 recordsLinked to original sources

Reliability of the Barthel Index when used with older people.

OBJECTIVE: the Barthel Index (BI) has been recommended for the functional assessment of older people but the reliability of the measure for this patient group is uncertain. To investigate this issue we undertook a systematic review to identify relevant studies from which an overview is presented. METHOD: studies investigating the reliability of the BI were obtained by searching Medline, Cinahl and Embase to January 2003. Screening for potentially relevant papers and data extraction of the studies meeting the inclusion criteria were carried out independently by two researchers. RESULTS: the scope of the 12 studies identified included all the common clinical settings relevant to older people. No study investigated test-retest reliability. Inter-rater reliability was reported as 'fair' to 'moderate' agreement for individual BI items, and a high percentage agreement for the total BI score. However, these findings were difficult to interpret as few studies reported the prevalence of the disability categories for the study populations. There may be considerable inter-observer disagreement (95% CI of +/-4 points). There was evidence that the BI might be less reliable in patients with cognitive impairment and when scores obtained by patient interview are compared with patient testing. The role of assessor training and/or guidelines on the reliability of the BI has not been investigated. CONCLUSIONS: although the BI is highly recommended, there remain important uncertainties concerning its reliability when used with older people. Further studies are justified to investigate this issue.

Activities of Daily Living↗

Detection of genotyping errors by Hardy-Weinberg equilibrium testing.

Genotyping data sets may contain errors that, in some instances, lead to false conclusions. Deviation from Hardy-Weinberg equilibrium (HWE) in random samples may be indicative of problematic assays. This study has analysed 107,000 genotypes generated by TaqMan, RFLP, sequencing or mass spectrometric methods from 443 single-nucleotide polymorphisms (SNPs). These SNPs are distributed both within genes and in intergenic regions. Genotype distributions for 36 out of 313 assays (11.5%) whose minor allele frequencies were >0.05 deviated from HWE (P<0.05). Some of the possible reasons for this deviation were explored: assays for five SNPs proved nonspecific, and genotyping errors were identified in 21 SNPs. For the remaining 10 SNPs, no reasons for deviation from HWE were identified. We demonstrate the successful identification of a proportion of nonspecific assays, and assays harbouring genotyping error. Consequently, our current high-throughput genotyping system incorporates tests for both assay specificity and deviation from HWE, to minimise the genotype error rate and therefore improve data quality.

DNA↗

Association testing by DNA pooling: an effective initial screen.

With an ever-increasing resource of validated single-nucleotide polymorphisms (SNPs), the limiting factors in genome-wide association analysis have become genotyping capacity and the availability of DNA. We provide a proof of concept of the use of pooled DNA as a means of efficiently screening SNPs and prioritizing them for further study. This approach reduces the final number of SNPs that undergo full, sample-by-sample genotyping as well as the quantity of DNA used overall. We have examined 15 SNPs in the cholesteryl ester transfer protein (CETP) gene, a gene previously demonstrated to be associated with serum high-density lipoprotein cholesterol levels. The SNPs were amplified in two pools of DNA derived from groups of individuals with extremely high and extremely low serum high-density lipoprotein cholesterol levels, respectively. P values <0.05 were obtained for 14 SNPs, supporting the described association. Genotyping of the individual samples showed that the average margin of error in frequency estimate was approximately 4% when pools were used. These findings clearly demonstrate the potential of pooling techniques and their associated technologies as an initial screen in the search for genetic associations.

Adolescent↗