Changes to basic life support guidelines--evidence-based practice?
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Cardiopulmonary Resuscitation↗
Biomedical subjects
M Dempster
Publications and source records attributed to M Dempster.
How well do elderly people complete individualised quality of life measures: an exploratory study.
This research note describes and discusses a study which investigated the feasibility of using an individualised approach to measure the quality of life (QoL) of a sample of older people who were in receipt of an early hospital discharge service. Most participants (86%) were able to identify areas of their lives which were important to them, rate their level of functioning on each of these areas and rank their life areas in order of importance. However, 39% were unable to quantify the relative importance of each area of life. Indeed, the majority (57%) of participants who were over 75 years old could not complete this 'weighting' or evaluative stage. The results suggest that the phenomenological approach to measuring QoL may be employed successfully with older people but that the 'weighting' system used by existing individualised QoL measures needs to be refined, especially when assessing people over 75.
Aged↗
Measuring the health related quality of life of people with ischaemic heart disease.
OBJECTIVES: To inform researchers and clinicians about the most appropriate generic and disease specific measures of health related quality of life for use among people with ischaemic heart disease. METHODS: MEDLINE and BIDS were searched for research papers which contained a report of at least one of the three most common generic instruments or at least one of the five disease specific instruments used with ischaemic heart disease patients. Evidence for the validity, reliability, and sensitivity of these instruments was critically appraised. RESULTS: Of the three generic measures-the Nottingham health profile, sickness impact profile, and short form 36 (SF-36)-the SF-36 appears to offer the most reliable, valid, and sensitive assessment of quality of life. However, a few of the SF-36 subscales lack a sufficient degree of sensitivity to detect change in a patient's clinical condition. According to the best available evidence, the quality of life after myocardial infarction questionnaire should be preferred to the Seattle angina questionnaire, the quality of life index cardiac version, the angina pectoris quality of life questionnaire, and the summary index. Overall, research on disease specific measures is sparse compared to the number of studies which have investigated generic measures. CONCLUSIONS: An assessment of the quality of life of people with ischaemic heart disease should comprise a disease specific measure in addition to a generic measure. The SF-36 and the quality of life after myocardial infarction questionnaire (version 2) are the most appropriate currently available generic and disease specific measures of health related quality of life, respectively. Further research into the measurement of health related quality of life of people with ischaemic heart disease is required in order to address the problems (such as lack of sensitivity to detect change) identified by the review.
Health Status Indicators↗
Selecting a measure of health related quality of life.
Quality of life is becoming recognized increasingly as an important outcome measure which needs to be considered by social workers. However, there does not appear to be a clear consensus about the definition of quality of life. In addition, social workers are likely to experience difficulties choosing and applying an appropriate instrument with which to measure quality of life because of the many available instruments purporting to assess quality of life. This paper discusses the definition of health-related quality of life and explains the main measurement properties of an instrument that must be appraised when considering whether or not an instrument is appropriate. The paper will assist social workers to make an informed choice about measures of health-related quality of life.
Health Status Indicators↗
The adaptations of a quality of life questionnaire for routine use in clinical practice: the Chronic Respiratory Disease Questionnaire in cystic fibrosis.
The assessment of quality of life (QoL) is necessary to monitor the course of disease and to assess the effect of new and existing interventions in clinical practice. This will only be achieved if QoL can be measured accurately and routinely. The aim of this study was to demonstrate the methodology involved in the adaptation and shortening of the Chronic Respiratory Disease Questionnaire (CRDQ) in a population of adults with cystic fibrosis (CF). A single interviewer administered the CRDQ to a sample of 45 adult patients (32 males) with CF prior to assessment of spirometric measures of lung function. Those patients whose lung function was stable at the time of study and who could attend for a retest within 14 days were asked to complete the questionnaire at a subsequent visit (n = 10). The mean interval between visits was 7 days (range 5-14 days). Correlations between spirometry and CRDQ dimensions ranged from -0.003 to 0.426. The fatigue, emotion and mastery dimensions showed high internal consistency and adequate construct validity. In the small number of patients suitable for retest, the results indicated that the dimensions exhibited adequate test-retest reliability. In contrast, low internal consistency was demonstrated for the dyspnoea dimension. The fatigue, emotion and mastery dimensions could be reduced, in terms of their number of items, without a substantial loss in explanatory power. This study suggests that QoL measurement can be made convenient and, thus, more easily accessible for routine clinical assessment.
Activities of Daily Living↗
A home from hospital service for older people.
Current policy and practice emphasises much more than ever before a need for purchasers and providers to reduce appropriately the length of hospital stay. Consequently, a number of early discharge "schemes" have been developed. This paper presents the findings from an evaluation of a "home from hospital" (HFH) scheme. The HFH service provides a maximum of six weeks' intensive domiciliary care for older people on their discharge from hospital. The aim of the service is to facilitate early discharge from hospital and to assist patients to regain independence. The study reported here elicited the views and perceptions of clients and professionals involved in the HFH scheme about the quality, efficiency and effectiveness of the service. Seventy-five patients were discharged from hospital to the HFH scheme during a two month period and those who consented to participate in the study were interviewed after discharge from the HFH service (n = 40). Participants had attended hospital for various conditions but the largest group were fracture patients. Hospital staff and community based professionals completed a questionnaire about the service. Overall, patients and professionals perceived the HFH scheme as a beneficial service, though some minor problems existed at an individual level. Clients' dependency levels generally decreased during their time on the scheme. Research using a controlled design is necessary in order to draw firm conclusions about the cost-effectiveness of a HFH service. Overall, home-from-hospital appears to be an effective model of an early discharge scheme worthy of further attention.
Activities of Daily Living↗
Enhanced long-term potentiation and impaired learning in mice with mutant postsynaptic density-95 protein.
Specific patterns of neuronal firing induce changes in synaptic strength that may contribute to learning and memory. If the postsynaptic NMDA (N-methyl-D-aspartate) receptors are blocked, long-term potentiation (LTP) and long-term depression (LTD) of synaptic transmission and the learning of spatial information are prevented. The NMDA receptor can bind a protein known as postsynaptic density-95 (PSD-95), which may regulate the localization of and/or signalling by the receptor. In mutant mice lacking PSD-95, the frequency function of NMDA-dependent LTP and LTD is shifted to produce strikingly enhanced LTP at different frequencies of synaptic stimulation. In keeping with neural-network models that incorporate bidirectional learning rules, this frequency shift is accompanied by severely impaired spatial learning. Synaptic NMDA-receptor currents, subunit expression, localization and synaptic morphology are all unaffected in the mutant mice. PSD-95 thus appears to be important in coupling the NMDA receptor to pathways that control bidirectional synaptic plasticity and learning.
Animals↗
Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene.
Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative disorder characterized by the accumulation of aggregates of a cellular protein, PrP, in the brain. In both human and animals, genetic alterations to the gene encoding PrP (PRNP in human) modulate susceptibility to CJD. The recent epidemic of bovine spongi-form encephalopathy in the UK has raised the possibility of transmission from animal produce to humans. To provide a baseline against which to assess possible risk factors, we have determined the frequencies of predisposing mutations and allelic variants in PRNP and their relative contributions to disease. Systematic PRNP genotype analysis was performed on suspected CJD cases referred to the National Surveillance Unit in the UK over the period 1990-1993. Inspection of 120 candidate cases revealed 67 patients with definite and probable CJD, based on clinical and neuropathological criteria. No PRNP mutations were detected in any of the remaining 53 patients assessed as "non-CJD". A disease-associated mutation in the PRNP gene was identified in nine (13.4%) definite and probable cases of CJD, a reliable estimate of the incidence of PRNP-related inherited CJD based on a prospective epidemiological series. Within the group of sporadic CJD patients (lacking PRNP mutations), we confirmed that the genotype distribution with respect to the common methionine/valine (Met/Val) polymorphism at codon 129 within PRNP was significantly different from the normal Caucasian population. The incidence of Met homozygosity at this site was more than doubled and correlated with increased susceptibility to the development of sporadic CJD. Unlike other recent studies, Val homozygosity was also confirmed to be a significant risk factor in sporadic CJD, with the relative risks for the three genotypes Met/Met: Val/Val:Met/Val being 11:4:1.
Alleles↗
A candidate marsupial PrP gene reveals two domains conserved in mammalian PrP proteins.
The normal function of the pathogenicity-related protein, PrP (or prion protein), is unknown. To shed light on functionally important domains, we have characterized a candidate marsupial PrP gene. The deduced marsupial PrP has an overall identity of about 80% to eutherian PrP at the amino acid (aa) level. This similarity is not equally distributed and two regions (aa 118-142 and 177-223) are particularly highly conserved. In contrast, a repeat region in the N-terminal half of the marsupial PrP shows dipeptide inserts not described in other PrP. Another particular feature of the marsupial gene is the lack of a continuous ORF on the antisense strand, as is found in most eutherian PrP. We propose that antisense ORFs found in other species are artefactual. Comparison with all known PrP argues that the molecule characterised is the true marsupial PrP orthologue.
Amino Acid Sequence↗
Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene.
A case of familial Creutzfeldt-Jakob disease associated with a 144 base pair insertion in the open reading frame of the prion protein gene is described. Sequencing of the mutated allele showed an arrangement of six octapeptide repeats, distinct from that of a recently described British family with an insertion of similar size. Thirteen years previously the brother of the proband had died from "Huntington's disease", but re-examination of his neuropathology revealed spongiform encephalopathy and anti-prion protein immunocytochemistry gave a positive result. The independent evolution of at least two distinct pathological 144 base pair insertions in Britain is proposed. The importance of maintaining a high index of suspicion of inherited Creutzfeldt-Jakob disease in cases of familial neurodegenerative disease is stressed.
Base Sequence↗
Neuropathological phenotype and 'prion protein' genotype correlation in sporadic Creutzfeldt-Jakob disease.
A systematic study of 'prion protein' genotype in cases of sporadic Creutzfeldt-Jakob disease showing amyloid plaques staining with anti-prion protein antibody has been performed. This revealed a relative excess of cases with valine at position 129 of the gene's open reading frame. The observation emphasises the importance of this site of common polymorphism in influencing the neuropathological phenotype in human spongiform encephalopathy.
Aged↗
Heterogeneity analysis in 40 X-linked retinitis pigmentosa families.
Analysis of genetic heterogeneity in 40 kindreds with X-linked retinitis pigmentosa (XLRP), with 20 polymorphic markers, showed that significant heterogeneity is present (P = .001) and that 56% of kindreds are of RP3 type and that 26% are of RP2 type. The location of the RP3 locus was found to be 0.4 cM distal to OTC in the Xp21.1 region, and that of the RP2 locus was 6.5 cM proximal to DXS7 in Xp11.2-p11.3. Bayesian probabilities of linkage to RP2, RP3, or to neither locus were calculated. This showed that 20 of 40 kindreds could be assigned to one or the other locus, with a probability > .70 (14 kindreds with RP3 and 6 kindreds with RP2 disease). A further three kindreds were found to be unlinked to either locus, with a probability > .8. The remaining 17 kindreds could not be classified unambiguously. This highlights the difficulty of classifying families in the presence of genetic heterogeneity, where the two loci are separated by an estimated 16 cM.
Bayes Theorem↗
Telomere reduction in human colorectal carcinoma and with ageing.
We have hypothesized that end-to-end chromosome fusions observed in some tumours could play a part in genetic instability associated with tumorigenesis and that fusion may result from the loss of the long stretches of G-rich repeats found at the ends of all linear chromosomes. We therefore asked whether there is telomere loss or reduction in common tumours. Here we show that in most of the colorectal carcinomas that we analysed, there is a reduction in the length of telomere repeat arrays relative to the normal colonic mucosa from the same patient. We speculate on the consequences of this loss for tumorigenesis. We also show that the telomere arrays are much smaller in colonic mucosa and blood than in fetal tissue and sperm, and that there is a reduction in average telomere length with age in blood and colon mucosa. We propose that the telomerase is inactive in somatic tissues, and that telomere length is an indicator of the number of cell divisions that it has taken to form a particular tissue and possibly to generate tumours.
Adenoma↗
Human telomeres contain at least three types of G-rich repeat distributed non-randomly.
Using a combination of different oligonucleotides and restriction enzymes we have examined the gross organisation of repeats within the most distal region of human chromosomes. We demonstrate here that human telomeres do not contain a pure uniform 6 base pair repeat unit but that there are at least three types of repeat. These three types of repeat are present at the ends of most or all human chromosomes. The distribution of each type of repeat appears to be non-random. Each human telomere has a similar arrangement of these repeats relative to the ends of the chromosome. This could reflect differences in the functions that they perform, or might result from the mutation and correction processes occurring at human telomeres. The number of repeat units, the repeat types and arrangement differs at mouse telomeres. Analysing the change in length of the telomeric repeat region between an individuals blood and germline DNA reveals that this is due to variable amounts of the TTAGGG repeat and not the other repeat types. This organization of repeat units at human telomeres will only be confirmed upon the isolation and sequencing of full length (10-15 kb), intact human telomeres.
Animals↗
Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16.
Adult polycystic kidney disease (APKD) is a common genetic disorder that is inherited as an autosomal dominant trait. Recent reports show that, in some families, the APKD gene shows close genetic linkage to two chromosome 16 specific genetic markers. We have been conducting a genetic linkage study using 29 polymorphic isoenzyme and antigenic markers in 184 members of 12 APKD families. We present here the results of linkage analysis using three of these markers which have also been reported to be located on chromosome 16: phosphoglycolate phosphatase (PGP), glutamate pyruvate transaminase (GPT), and haptoglobin (HP). The results show that APKD is closely linked to the PGP locus on the short arm of chromosome 16 (16p13----p12), which is consistent with the previously reported linkage both to PGP and to the alpha globin locus. The genetic distance between PGP and APKD shows a maximum likelihood value of the recombination fraction at zero with a lod score of 5 X 5. There is no evidence of linkage between APKD and either GPT or HP. The PGP polymorphism potentially provides a useful predictive test to complement the use of alpha globin probes in genetic counselling. These tests should provide an efficient means of primary screening of family members at risk, as well as introducing the possibility of prenatal diagnosis.
Alanine Transaminase↗
Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14.
Linkage data between X-linked retinitis pigmentosa (XLRP) and nine X-chromosomal markers are reported. To test the assignment of XLRP to the Xp21 region (as considered at Human Gene Mapping 8), an analysis of XLRP and six markers flanking this region was undertaken. The XLRP locus was found to be excluded from the chromosome distal to ornithine transcarbamylase (OTC) (P = 6.5 X 10(-5]. Further data were accumulated with three more probes proximal to DXS7 (L1.28), the closest linked probe. Multipoint analysis of these data suggests a posterior probability of .94 that XLRP is proximal to DXS7 (L1.28), which has been mapped to the region Xp11.3.
Chromosome Mapping↗
Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): further linkage data, heterogeneity testing, and risk estimation.
Further linkage data relating X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28) is presented in this paper. The current mean estimate of the recombination fraction (theta) including this and all published data, is 0.09, with confidence limits 0.04 to 0.17 (maximum Lod score of 14.01 at a theta of 0.08). There is no evidence for heterogeneity of recombination fraction between the 13 families for which data are available. However, it is argued that heterogeneity should be assumed to exist for the purposes of risk estimation. Mean estimates and variances of risk are calculated for hypothetical families each with different linkage data. In families in which no recombination has been observed, the mean and variance of risk are sufficiently small for the clinical use of this probe to be acceptable to many.
DNA↗
A genetic linkage study of choroideremia.
One hundred and twenty-two members of 15 choroideremia families have been used in a genetic linkage study of choroideremia (TCD) using four DNA probes situated on the X chromosome. Linkage was analysed using DNA probes DXS14 (p58-1), DXYS1 (pDP 34), DXS178 (p212) and DXS177 (lambda 2.7). Statistically significant linkage was demonstrated with DXYS1 (theta = 0.00, lod 4.95), in agreement with the findings of Nussbaum et al. (1985). Evidence consistent with loose linkage to TCD was also found with DXS14 (theta = 0.31, lod 0.23), DXS178 (theta = 0.18, lod 1.41) and DXS177 (theta = 0.27, lod 0.20). The results suggest that TCD is located in the region Xq13-q21. Probe DXYS1 is likely to prove useful in the prenatal diagnosis of this condition.
Choroid↗