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Biomedical subjects

D Wilkin

Publications and source records attributed to D Wilkin.

At least 19 recordsLinked to original sources

Guided self-management and patient-directed follow-up of ulcerative colitis: a randomised trial.

BACKGROUND: Ulcerative colitis is managed mainly in secondary care by regular outpatient reviews done by specialist clinicians. Alternatives would be to discharge patients to primary care or to provide open-access clinics, but neither of these options reduce patients' dependency on doctors or allow patients' involvement in disease management. We did a randomised controlled trial to assess an alternative to traditional outpatient care. METHODS: We randomly assigned 203 patients with ulcerative colitis who were undergoing hospital follow-up to receive patient-centred self-management training and follow-up on request (intervention group), or normal treatment and follow-up (control group). The main outcome was the interval between relapse and treatment, and secondary outcomes were rates of primary and secondary care consultation, quality of life, and acceptability to patients. Analysis was by intention to treat. FINDINGS: Intervention patients had relapses treated within a mean of 14.8 h (SD 19.1) compared with 49.6 h (65.1) in controls (difference 34.8 h [95% CI 16.4-60.2]). Furthermore, intervention patients compared with controls made significantly fewer visits to hospital (0.9 vs 2.9 per patient per year, difference 2.0 [1.6-2.7]) and to the primary-care physician (0.3 vs 0.9 per patient per year, difference 0.6 [0.2-1.1], p<0.006). Only two patients in the intervention group preferred traditional management. Health-related quality-of-life scores were unchanged in both groups. INTERPRETATION: Self-management of ulcerative colitis accelerates treatment provision and reduces doctor visits, and does not increase morbidity. This approach could be used in long-term management of many other chronic diseases to improve health-service provision and use, and to reduce costs.

Administration, Topical↗

Clinical governance: a convincing strategy for quality improvement?

Clinical governance is a new policy introduced by the UK government to improve quality of care in the National Health Service; it imposes a "duty of quality" on all NHS organisations, and aims to bring together managerial, organisational and clinical approaches to improving quality of care. Infrastructures have been established to support quality improvement in NHS organisations and priorities for quality improvement have been established. Initial approaches are largely educational. However, information on quality of care is starting to be shared, and experiments are being conducted with a range of financial and contractual incentives for quality improvement. For widespread cultural change to occur, a "no blame" approach to quality improvement will be necessary; this may be incompatible with the need to identify and eliminate bad practice. Other tensions include the rapid pace of change being centrally driven and uneven development of the infrastructure to support clinical governance. What has not yet been shown is that quality of care has improved. It is too early to say this yet. Given the magnitude both of the vision and the work required, it is unlikely that change will be rapid, or seen on a widespread scale.

Clinical Competence↗

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates members of the transforming growth factor beta superfamily of signalling proteins (TGFbeta-FMs), such as BMP4 (ref. 1). By diffusing through extracellular matrices more efficiently than TGFbeta-FMs, noggin may have a principal role in creating morphogenic gradients. During mouse embryogenesis, Nog is expressed at multiple sites, including developing bones. Nog-/- mice die at birth from multiple defects that include bony fusion of the appendicular skeleton. We have identified five dominant human NOG mutations in unrelated families segregating proximal symphalangism (SYM1; OMIM 185800) and a de novo mutation in a patient with unaffected parents. We also found a dominant NOG mutation in a family segregating multiple synostoses syndrome (SYNS1; OMIM 186500); both SYM1 and SYNS1 have multiple joint fusion as their principal feature. All seven NOG mutations alter evolutionarily conserved amino acid residues. The findings reported here confirm that NOG is essential for joint formation and suggest that NOG requirements during skeletogenesis differ between species and between specific skeletal elements within species.

Abnormalities, Multiple↗

Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.

Pycnodyostosis, an autosomal recessive osteosclerosing skeletal disorder, has recently been shown to result from mutations in the cathepsin K gene. Cathepsin K, a lysosomal cysteine protease with an abundant expression in osteoclasts, has been implicated in osteoclast-mediated bone resorption and remodeling. DNA sequence analysis of the cathepsin K gene in a nonconsanguineous family demonstrated compound heterozygozity for mutations in two affected siblings. We have identified a missense mutation with a single base G-->A transition at cDNA nucleotide 236, resulting in conversion of a conserved glycine to a glutamine residue (G79E). The other mutation is an A-->T transition at nucleotide 154, leading to the substitution of a lysine residue by a STOP codon (K52X) predicting premature termination of the precursor cathepsin K polypeptide. Sequencing of genomic and cDNAs from the parents demonstrated that the missense mutation was inherited from the father and the nonsense mutation from the mother. Protein expression in both affected children was virtually absent, while in the parents was reduced by 50-80% compared with controls. The protein studies demonstrate that even significantly reduced cathepsin K levels do not have any phenotypic effect, whereas absent cathepsin K results in pycnodysostosis.

Cathepsin K↗

Specialist outreach clinics in general practice.

OBJECTIVES: To establish the extent and nature of specialist outreach clinics in primary care and to describe specialists' and general practitioners' views on outreach clinics. DESIGN: Telephone interviews with hospital managers. Postal questionnaire surveys of specialists and general practitioners. SETTING: 50 hospitals in England and Wales. SUBJECTS: 50 hospital managers, all of whom responded. 96 specialists and 88 general practitioners involved in outreach clinics in general practice, of whom 69 (72%) and 46 (52%) respectively completed questionnaires. 122 additional general practitioner fundholders, of whom 72 (59%) completed questionnaires. MAIN OUTCOME MEASURES: Number of specialist outreach clinics; organisation and referral mechanism; waiting times; perceived benefits and problems. RESULTS: 28 of the hospitals had a total of 96 outreach clinics, and 32 fundholders identified a further 61 clinics. These clinics covered psychiatry (43), medical specialties (38), and surgical specialties (76). Patients were seen by the consultant in 96% (107) of clinics and general practitioners attended at only six clinics. 61 outreach clinics had shorter waiting times for first outpatient appointment than hospital clinics. The most commonly reported benefits for patients were ease of access and shorter waiting times. CONCLUSIONS: Specialist outreach clinics cover a wide range of specialties and are popular, especially in fundholding practices. These clinics do not seem to have increased the interaction between general practitioners and specialists.

Appointments and Schedules↗

Annual assessments of patients aged 75 years and over: views and experiences of elderly people.

BACKGROUND: The 1990 contract requires general practitioners to offer all their patients aged 75 years and over an annual health check. Increasing importance is being placed on consumers' views of service provision. AIM: A study was undertaken in June 1992 to investigate elderly patients' views and experiences of the annual health check, and to compare these with the previously reported views of general practitioners and practice nurses who had also been surveyed as part of the study. METHOD: Twenty family health services authorities wrote to a sample of 1500 elderly patients asking if the patient's name could be passed to researchers. Patients who agreed were then interviewed. RESULTS: A total of 664 elderly patients (44%) were interviewed. Only 64% of respondents were aware of their entitlement to a health check. Vulnerable patients, such as those in poor health or who lived alone, were less likely to know about the health checks than other patients. Only 31% of respondents thought they had had a health check. Of these, fewer than half recalled the doctor or nurse discussing the findings with them, although 80% of doctors reported that they always or mostly discussed results with patients. Elderly patients were more likely to recall the physical aspects of the health check rather than discussion about particular health aspects. However, doctors and nurses felt that routine checks were useful for giving advice rather than detecting medical problems. Of those who had had a health check, 82% reported no improvement in their health as a result, but 93% thought that they were a good idea. Only 7% of doctors thought they were of value, compared with the majority of nurses. CONCLUSION: It appeared that the inverse care law was operating, with those more in need of the service being less likely to have known about it. Discrepancies were found between general practitioners' and practice nurses' reports of service provision and those of elderly patients. Evidence about the cost-effectiveness of regular health checks may help the conflict between professional scepticism and consumer enthusiasm for these assessments.

Aged↗

Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.

Kniest dysplasia is a heritable chondrodysplasia that severely affects skeletal growth. Recent evidence suggests that the etiology is based on mutations in COL2A1, the gene for collagen type II. We report the detection and partial characterization of an identical defect in type II collagen in two unrelated patients with Kniest dysplasia. Analysis of cyanogen bromide (CB)-digested cartilage samples from both probands by SDS-PAGE revealed an abnormal band for peptide alpha 1(II)CB12. The peptide was purified and digested with endoproteinase Asp-N. Fragments unique to the Kniest tissues were identified by reverse-phase high-pressure liquid chromatography and by sequence analysis. The results established a deletion of amino acids 102-108 of the alpha 1(II) triple-helical domain, which disrupted the (gly-X-Y)n repeat needed for helix formation. This was confirmed by sequence analysis of DNA amplified from both probands, revealing the molecular basis to be a single nucleotide mutation at a CpG dinucleotide (GCG-->GTG) in the codon for alanine 102. The mutation created a new splice donor site, which would account for the absence of the last seven amino acids from the 3' end of exon 12 in alpha 1(II)CB12. Light and electron micrographs of the probands' cartilage showed the perilacunar foamy matrix ("Swiss cheese") characteristic of Kniest dysplasia and chondrocytes containing dilated rough endoplasmic reticulum, which earlier studies had shown were filled with type II procollagen. These two cases strengthen the concept that Kniest dysplasia is based on mutations of COL2A1 and belongs within the broad spectrum of chondrodysplasias caused by type II collagenopathies.

Adult↗

Annual assessment of patients aged 75 years and over: general practitioners' and practice nurses' views and experiences.

BACKGROUND: The new contract for general practitioners, introduced in 1990, required them to offer an annual assessment, or 'health check', to patients aged 75 years or more. AIM: A study was undertaken to collect details of practice organization of these assessments, general practitioners' and practice nurses' experience of assessments, and their views of the value of such assessments. METHOD: A nationwide postal survey of 1000 general practitioners and interview surveys with general practitioners and practices nurses from 150 practices were carried out in 1992. RESULTS: The postal survey yielded a response rate of 69% and the interview survey a practice response rate of 76%. Organization of assessments varied enormously between, and often within, practices with a variety of methods of invitation and assessment instruments being used. Of general practitioners 13% did not use a letter of any sort to invite patients to attend, and many doctors excluded certain patients from assessment, particularly those who were seen regularly or had been seen recently. However, 70% of general practitioners estimated that they had assessed over 60% of their elderly patients in the first year (1990-91). A substantial proportion of assessments were estimated to have been conducted on an opportunistic basis and few practices were doing all the assessments of those aged 75 years and over in the patients' homes. In the majority of practices, the general practitioners and practice nurses were the only personnel carrying out assessments. Only 9% of the doctors and 34% of the nurses interviewed had been specially trained to carry out the assessment; 54% of nurses said they would like more training in this area. Both doctors and nurses reported that the assessments did detect previously unknown problems, although over half of doctors reported that they rarely picked up new mental health problems. Increased referrals to social services as a direct result of the assessments were reported by 63% of doctors. The majority of doctors and nurses reported that routine assessments were useful in providing advice and reassurance to elderly people. Two thirds of doctors said they would continue to offer at least selected groups of their elderly patients routine assessments, even if not contractually obliged to do so. CONCLUSION: The findings suggest that the experiences of the first two years of this activity had convinced some general practitioners that routine assessment of elderly patients is worthwhile. However the increased demand for other services must obviously be met by an increase in resources if the effectiveness of these assessments is not to be undermined.

Aged↗

Critical review of the international assessments of health-related quality of life.

This paper reviews the international adaptation and use of generic health quality of life measures over the last several years, including the Nottingham Health Profile (NHP) the Sickness Impact Profile (SIP), the Medical Outcomes Short-Form 36 (MOS SF-36), the EuroQol, and Dartmouth COOP Charts. International work with disease or condition specific HRQL measures is exemplified with the European Research and Treatment of Cancer (EORTC) Quality of Life Questionnaire (QLQ), and the Spitzer Quality of Life (QL) Index. Progress towards cross national measurement equivalence in HRQL measures reported in the literature has been uneven. Results show that the development of language-adapted versions of HRQL measures to date have mostly concerned translation issues, within the context of independently conducted studies. Substantially less focus has been placed on psychometric equivalence across language versions necessary for coordinated international studies, such as multi-national clinical trials. However, this picture is rapidly changing with recent projects underway to develop and refine new or existing HRQL measures. Overall, the lack of prominent differences found between countries in ranking of health states in major HRQL measures supports the feasibility of developing internationally applicable HRQL instruments. Recommendations are made for additional data needed to better ascertain the degree of measurement equivalence developed in the various versions of each instrument reviewed.

Cross-Cultural Comparison↗

Physical morbidity in older people with moderate, severe and profound mental handicap, and its relation to psychiatric morbidity.

This report describes a study of physical health problems and their relation to psychiatric morbidity in a community sample of 105 people with severe mental handicap and over the age of 50 years from a Metropolitan Borough. An extensive outreach exercise ensured that almost 100% of people fulfilling the age and ability criteria were included in the study. All the physical and mental health assessments were carried out by a psychiatrist at senior registrar level. Physical assessments used a combination of physical examination and access to the subject's medical records. Results showed that, with minor exceptions, the physical health of the handicapped population was no worse than that of controls. Contrary to expectation, no relationship was demonstrated between physical and psychiatric morbidity. However, this may be due to the greater difficulty in identifying psychiatric morbidity in people who are more severely handicapped. Since physical health problems increase with level of handicap, the potential relation between physical and mental health is masked.

Aged↗