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Biomedical subjects

A Evans

Publications and source records attributed to A Evans.

At least 109 records · Page 6Linked to original sources
PubMed2001

Developing a cancer genetics service in Wales: opinions of gynaecologists on the management of women at risk of familial ovarian cancer.

In Wales, a cancer genetics service has been developing since 1998. Gynaecologists play an integral role in the management of women with a family history of ovarian cancer and we were interested in investigating referral practice and management for relatives of patients with ovarian cancer among gynaecologists in Wales. In 1999, a postal questionnaire was sent to all gynaecologists. The response rate was 51%. The questionnaire contained structured questions about current provision and a number of hypothetical scenarios to explore referral patterns to the cancer genetics service. The results of this study showed that referrals varied widely among specialists, as did the numbers who required onward referral to cancer genetics. The offer of screening to women at high risk of ovarian cancer was consistent, although there were variations in how often it was offered and the age at which it was offered. Most gynaecologists were easily able to establish when it was appropriate to refer onwards to cancer genetics, differentiating between women at high or low risk. There was some confusion about women at moderate risk of ovarian cancer. This study demonstrated the need for clear referral guidelines in Wales. Guidelines have since been distributed to all general practitioners and specialists; however, continued monitoring and further evaluation of referral practices will be necessary.

Family↗
PubMed2001

New polymorphisms in the interleukin-10 gene--relationships to myocardial infarction.

BACKGROUND: Interleukin-10 (IL-10) is a cytokine with anti-inflammatory and B-cell-stimulating activity. IL-10 is expressed in human atherosclerotic plaques and recent studies have shown the involvement of IL-10 in the atherosclerotic process. Therefore, we hypothesized that polymorphisms in the IL-10 gene might be associated with a predisposition to coronary heart disease. MATERIALS AND METHODS: To identify new polymorphisms in the human IL-10 gene, the entire coding sequence and the 3' flanking sequence of the gene were screened by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCR) followed by sequencing. The polymorphisms identified, and three others which have been previously described in the promoter region of the IL-10 gene (G-1082A, C-819T, C-592A), were then investigated in the ECTIM Study, a large population-based case-control study of myocardial infarction. RESULTS: Four new polymorphisms were identified: one in exon 1 (G+78/ex1A), which predicts a Glycine to Arginine change at position 15 in the putative signal peptide of the protein, two in the intron 3 (C+19/in3T, T+953/in3C) and one in the 3' flanking region (C+117T). All the IL-10 polymorphisms were in complete or nearly complete pairwise linkage disequilibrium. No case-control difference was found in genotype or allele frequencies for any of the polymorphisms. CONCLUSIONS: Our results suggest that IL-10 polymorphisms are not associated with an increased risk of myocardial infarction.

Adult↗
PubMed2001

Association studies between haemochromatosis gene mutations and the risk of cardiovascular diseases.

BACKGROUND: Haemochromatosis is a common genetic disorder, inherited as an autosomal recessive trait that results in a progressive accumulation of iron in most tissues of the body. Positive association studies have been recently published between cardiovascular diseases and heterozygosity for the major mutation C282Y in the haemochromatosis gene HFE. METHODS: In the present work, we have determined the HFE genotypes for C282Y and H63D in subjects from two case-control studies: the ECTIM and GENIC studies, designed to identify genetic variants associated with myocardial and brain infarction, respectively. In addition, we tested whether HFE mutations were associated with the degree of arteriosclerosis assessed non-invasively by Doppler ultrasonography on the carotid and femoral arteries, in a group of apparently healthy individuals (the AXA Study). RESULTS: The prevalence of 282Y, and 63D allele carriers, did not differ between cases and controls in the ECTIM and in the GENIC studies, while 63D but not 282Y carriers were more numerous among subjects with atherosclerotic plaques in the AXA Study. CONCLUSIONS: These three studies do not provide consistent evidence supporting the hypothesis that HFE mutations are associated with an increased risk of cardiovascular disease and with the development of arteriosclerosis.

Adolescent↗
PubMed2001

Sleep complaints and risk factors for excessive daytime sleepiness in adult males in Northern Ireland.

The prevalence of sleep complaints in Northern Ireland is unknown. Sleep disruption can result in excessive daytime sleepiness (EDS), with significant socioeconomic consequences. The aim of this study was to assess the prevalence of sleep complaints and to determine risk factors for EDS in a Northern Irish community. From an urban and rural community of 499,111 people, a random sample of 3391 adult men were sent a questionnaire by mail. Questions were asked regarding sleep, EDS and medical history. There were 2364 completed questionnaires returned (response rate 70%). The mean age of respondents was 46.0 years (range 18--91 years). 26.7% of men were not satisfied with their usual night's sleep and 68% of men woke up at least once during the night. Based on pre-defined criteria, 24.6% of the population had insomnia and 19.8% had EDS. The strongest risk factor identified for EDS was a history of snoring loudly (odds ratio 2.62; 95% CI 1.82--3.77). Other risk factors included ankle swelling, feeling sad or depressed stopping sleep, experiencing vivid dreams while falling asleep, waking up feeling unrefreshed and age > 35 years. The prevalence rates of sleep complaints and EDS in this community-based study is high, although this does depend directly on the criteria used to define insomnia and EDS. Recognition of risk factors for EDS may help to identify and treat those affected.

Adolescent↗
PubMed2001

Teaching consultation skills: a survey of general practice trainers.

BACKGROUND: Consultation skills are vitally important in general practice (GP), and now form part of the summative assessment of GP registrars in the UK. GP trainers need to be skilled in teaching consultation skills, and also need the time and resources to ensure that their registrars are competent in consultation skills. AIMS: To describe the teaching methods used by GP trainers in one deanery, the frequency of teaching of consultation skills, the problems encountered and the training that GP trainers have themselves received both in consultation skills and how to teach them. METHOD: Postal questionnaire survey of all the 164 trainers in the Yorkshire Deanery. RESULTS: Replies were received from 129 trainers (response rate 79%) of which 123 could be analysed. Of these trainers, 45 (37%) trainers taught consultation skills fewer than five times a year, 45 (37%) five to 10 times, and 14 (11%) more than 10 times a year. A total of 24 trainers reported problems with teaching consultation skills, most commonly lack of time, technical difficulties, and unreceptive registrars, and 97 (79%) trainers had had some postgraduate training in consultation skills with 112 (91%) reporting some form of teacher training. CONCLUSION: There is considerable variation in the reported frequency of teaching consultation skills, the models used, and the preparation of trainers for teaching, despite a systematic approach to teacher training in the Yorkshire Deanery.

Clinical Competence↗
PubMed2001

Trends in coronary risk factors in the WHO MONICA project.

BACKGROUND: The World Health Organization (WHO) MONICA Project was established to determine how trends in event rates for coronary heart disease (CHD) and, optionally, stroke were related to trends in classic coronary risk factors. Risk factors were therefore monitored over ten years across 38 populations from 21 countries in four continents (overall period covered: 1979-1996). METHODS: A standard protocol was applied across participating centres, in at least two, and usually three, independent surveys conducted on random samples of the study populations, well separated within the 10-year study period. RESULTS: Smoking rates decreased in most male populations (35-64 years) but in females the majority showed increases. Systolic blood pressure showed decreasing trends in the majority of centres in both sexes. Mean levels of cholesterol generally showed downward trends, which, although the changes were small, had large effects on risk. There was a trend of increasing body mass index (BMI) with half the female populations and two-thirds of the male populations showing a significant increase. CONCLUSIONS: It is feasible to monitor the classic CHD risk factors in diverse populations through repeated surveys over a decade. In general, the risk factor trends are downwards in most populations but in particular, an increase in smoking in women in many populations and increasing BMI, especially in men, are worrying findings with significant public health implications.

Adult↗
PubMed2001

The psychosocial assessment of deliberate self harm: using clinical audit to improve the quality of the service.

OBJECTIVES: To determine whether simple service initiatives resulted in an improvement in the quality of the psychosocial assessment of adults presenting with deliberate self harm (DSH) by accident and emergency (A&E) medical staff. METHOD: The quality of psychosocial assessment of adults presenting to an A&E department after DSH for a 12 month period was examined using an audit instrument developed from the Royal College of Psychiatrists' standards of service provision for the general hospital management of adult DSH. The results were then compared with a similar audit that had been conducted three years previously. A number of service improvements had been implemented after this first audit. RESULTS: A total of 1359 episodes of adult DSH were identified. When compared with the previous audit, the frequency of information recorded in the case notes was significantly improved in all areas of the psychosocial assessment (p < 0.001) apart from mental state. There were significant changes in treatment between the two audits, with a higher proportion in 1997/8 (362, 26.5%) assessed by a mental health specialist in the department than in 1994/5 (154, 16.5%; chi(2) = 33, p < 0.001). The frequency of recorded information for those who were not admitted directly to medical or surgical wards was significantly higher for all factors (p<0.01) apart from conscious level and medical history. CONCLUSIONS: A substantial improvement in the quality of the psychosocial assessment of adults presenting with DSH by A&E medical staff was achieved with the introduction of simple service developments. Encouraging staff to use a comprehensive checklist, proved particularly beneficial.

Adolescent↗
PubMed2001

Characterization of polymorphic structure of cathepsin G gene: role in cardiovascular and cerebrovascular diseases.

Cathepsin G (CTSG), a serine protease released from activated neutrophils, may cause platelet activation, leading to intravascular thrombosis, thus contributing to cardiovascular and cerebrovascular disease. Applying the candidate gene approach, we screened the 5'-flanking region and the entire coding region of the CTSG gene for genetic variation by using polymerase chain reaction/single-strand conformation polymorphism analysis from 96 patients at high risk for myocardial infarction (MI). We identified 4 polymorphisms in the 5'-flanking region (G-618C, G-315A, C-179T, and C-160T) and 1 polymorphism in the coding region (Asn125Ser) of the gene and genotyped the participants in the Etude Cas-Temoins sur l'Infarctus du Myocarde (ECTIM Study), a case-control study for MI, and in the Etude du Profil Génétique de l'Infarctus Cérébral (GENIC Study), a case-control study for brain infarction (BI), for all identified genetic variants. The potential in vitro functionality of the 4 variants in the 5'-flanking region was investigated with transient transfection analyses in U937 cells with different allelic promoter constructs by using a luciferase assay. Our in vitro analyses did not reveal any differences for the investigated allelic constructs with respect to promoter activity, and none of the polymorphisms in the 5'-flanking region was associated with the available phenotypes in either study. Allele and genotype distributions of all identified polymorphisms did not globally differ between cases and controls in the ECTIM Study. However, in patients from the ECTIM Study, the Ser125 allele was significantly associated with elevated plasma fibrinogen levels (P=0.006), but this effect was not seen in controls (case-control heterogeneity, P=0.04). There was a significant interaction between CTSG Asn125Ser and the beta-fibrinogen gene polymorphism G-455A on plasma fibrinogen levels (P=0.04). In the GENIC Study, the odds ratio for BI associated with CTSG Ser125 carrying was 1.82 (95% CI 1.16 to 2.84, P=0.008) in patients without a history of cardiovascular or cerebrovascular diseases. Our results indicate that the CTSG Ser125 allele is associated with plasma fibrinogen levels in MI patients from the ECTIM Study and with BI in the GENIC Study. Further studies should be carried out to define the underlying mechanisms.

Adult↗
PubMed2001

An audit of problems associated with urinary catheter withdrawal.

Long-term catheterisation is associated with many complications, including urinary tract infections which may lead to encrustation and catheter blockage. Current management of catheters susceptible to frequent blocking is to attempt to prolong catheter life by using bladder maintenance solutions or to change catheters proactively by identifying a characteristic blocking pattern for the patient. However, catheter removal is associated with a number of problems. This article describes an audit conducted in one trust to identify the types of catheter material associated with removal difficulties. All-silicone catheters appeared to have a higher incidence of reported problems. The formation of a 'cuff' in all-silicone catheters when the catheter balloon fails to deflate to its original shape has been investigated as an important factor in difficult removal. The audit also examined what action was taken when nurses were unable to remove a catheter.

Catheters, Indwelling↗
PubMed2001

Trends in cigarette smoking in 36 populations from the early 1980s to the mid-1990s: findings from the WHO MONICA Project.

OBJECTIVES: This report analyzes cigarette smoking over 10 years in populations in the World Health Organization (WHO) MONICA Project (to monitor trends and determinants of cardiovascular disease). METHODS: Over 300,000 randomly selected subjects aged 25 to 64 years participated in surveys conducted in geographically defined populations. RESULTS: For men, smoking prevalence decreased by more than 5% in 16 of the 36 study populations, remained static in most others, but increased in Beijing. Where prevalence decreased, this was largely due to higher proportions of never smokers in the younger age groups rather than to smokers quitting. Among women, smoking prevalence increased by more than 5% in 6 populations and decreased by more than 5% in 9 populations. For women, smoking tended to increase in populations with low prevalence and decrease in populations with higher prevalence; for men, the reverse pattern was observed. CONCLUSIONS: These data illustrate the evolution of the smoking epidemic in populations and provide the basis for targeted public health interventions to support the WHO priority for tobacco control.

Adult↗
PubMed2001

Underperforming doctors in general practice: a survey of referrals to UK Deaneries.

BACKGROUND: National Health Service Executive guidelines for rehabilitation of general practitioners (GPs) who require professional support state that these GPs should be advised to contact the Director of Postgraduate General Practice Education in their Deanery. There has been concern about how the needs of these GPs can be met without additional resources. AIM: To monitor and describe the process and outcome of these referrals over a two-year period to assess the size of the problem, to share good practice, and to identify any deficiencies in the system. DESIGN OF STUDY: Quarterly postal questionnaires. SETTING: Deaneries in the United Kingdom, which are geographically-based organisational units for the management of general practice education. METHODS: Three postal questionnaires were devised to cover General Medical Council (GMC) referrals to Deaneries, health authority referrals, and referrals made by Deaneries to the GMC Non-responders were contacted by telephone. RESULTS: Twenty-seven GPs were referred by the GMC, 72 were referred by health authorities, and 18 referrals were made by Deaneries to the GMC. The information provided to Deaneries by the GMC was timely in just over half the cases, and was left to be appropriate in two-thirds of cases. Information provided by health authorities was almost always timely, detailed, and appropriate. The action required by the GMC was felt to be inappropriate in five cases, and not feasible in eight cases. No extra resources were available in the majority of cases. Information about outcome for the GP was either unavailable or unclear in over half the cases. CONCLUSION: This monitoring exercise has revealed several deficiencies in the system for dealing with the educational needs of underperforming GPs. There is a needfor a clear national protocol for referral of GPs to Deaneries and for the support that Deaneries can be expected to provide.

Clinical Competence↗
PubMed2000

A shift in the phenotype of melan-A-specific CTL identifies melanoma patients with an active tumor-specific immune response.

In a significant proportion of melanoma patients, CTL specific for the melan-A(26/7-35) epitope can be detected in peripheral blood using HLA-A2/peptide tetramers. However, the functional capacity of these CTL has been controversial, since although they prove to be effective killers after in vitro expansion, in some patients they have blunted activation responses ex vivo. We used phenotypic markers to characterize melan-A tetramer(+) cells in both normal individuals and melanoma patients, and correlated these markers with ex vivo assays of CTL function. Melanoma patients with detectable melan-A tetramer(+) cells in peripheral blood fell into two groups. Seven of thirteen patients had a CCR7(+) CD45R0(-) CD45RA(+) phenotype, the same as that found in some healthy controls, and this phenotype was associated with a lack of response to melan-A peptide ex vivo. In the remaining six patients, melan-A tetramer(+) cells were shifted toward a CCR7(-) CD45R0(+) CD45RA(-) phenotype, and responses to melan-A peptide could be readily demonstrated ex vivo. When lymph nodes infiltrated by melan-A-expressing melanoma cells were examined, a similar dichotomy emerged. These findings demonstrate that activation of melan-A-specific CTL occurs in only some patients with malignant melanoma, and that only patients with such active immune responses are capable of responding to Ag in ex vivo assays.

Adult↗