We present a family with autosomal-dominant inheritance of renal insufficiency caused by renal hypoplasia in six individuals. In all affected individuals, signs of optic disk dysplasia were detected, but most patients were asymptomatic. A heterozygous missense mutation in the PAX2 gene causing a Gly75 to Ser substitution was present in all affected individuals. A second, unrelated patient presented with ocular complaints related to optic disk dysplasia, and had a history of vesico-ureteral reflux. A heterozygous hexanucleotide duplication in the PAX2 gene was detected leading to the duplication of GluThr at positions 74 and 75. The mutations in these two families are the first mutations in the PAX2 gene that do not lead to a truncated protein. Mechanistically, these mutations are expected to result in abnormal folding of the PAX2 protein. These observations further expand the spectrum of clinical features associated with PAX2 mutations, and suggest that a distinct genetic disorder can be identified in patients with renal dysplasia through a careful eye examination. As the ocular manifestations in this syndrome are variable anomalies of retinal and optic disk dysplasia, we prefer the term "papillo-renal syndrome".

Abnormalities, Multiple↗

PubMed1998

Teaching the theory behind guidelines: the Royal College of General Practitioners Guidelines Skills Course.

In the face of a perceived lack of widespread understanding of the theoretical issues underlying the development, dissemination and implementation of clinical guidelines, the Royal College of General Practitioners Guidelines Group developed a 2-day course aimed at teaching the theory in these areas. The course was targeted at potential opinion formers and ran on six occasions. Postal questionnaire assessment of the course revealed high levels of satisfaction with all aspects of the course and high levels of reported use of the knowledge gained. Further developments of the course are discussed.

Clinical Competence↗

PubMed1998

A false dichotomy. Commentary on 'Clinical guidelines: ways ahead'.

Explore the source record for details and available documents.

Evidence-Based Medicine↗

PubMed1997

A new self-completion outcome measure for diabetes: is it responsive to change?

Self-completion instruments assessing subjective health are increasingly being used to measure patient outcome. However, there is very little evidence as yet of existing instruments' responsiveness to change. This paper describes a study to evaluate the responsiveness to change of a self-completion instrument for the measurement of clinical outcome in patients with diabetes. A prospective follow-up study of 48 patients with non-insulin-dependent diabetes commencing insulin therapy was carried out, with assessments at baseline (i.e. pre-intervention), 6 weeks and 3 months post-intervention. The outcome measures used were the changes in scores on the self-completion instrument for symptom level, physical function, energy, depression, psychological distress and barriers to activity, HbA1c, non-fasting serum cholesterol and the body mass index (BMI). There were significant improvements in HbA1c and non-fasting serum cholesterol and worsening of the BMI, as expected. The self-completion instrument detected significant improvements in patient-reported symptoms within 6 weeks of the intervention (p < 0.01) and in energy levels (p < 0.05). There is evidence from this study of the self-completion instrument's ability to respond to change and it has potential for use in evaluative studies.

Aged↗

PubMed1997

Defining hypertension in older people from primary care case notes review.

A method of defining blood pressure (BP) status from a review of primary care patient records was developed and then validated using the case notes of a general practitioner with an interest in hypertension. Data were drawn from the records of the previous 6 years of all 65 to 80-year-old patients in the practice (n = 263). Patients were then categorised as hypertensive, normotensive or 'undetermined' by using a flowchart based on the mean of the three most recent BP measurements, antihypertensive medication and comorbidities of ischaemic heart disease, myocardial infarction, angina, oedema or cardiac failure. Mean systolic BP of > or = 160 mm Hg and/or diastolic BP of > or = 90 mm Hg were used as a threshold definition of hypertension and of BP control. Disagreement between general practitioner and the notes based definition occurred in 11% of patients (5% hypertensive, 6% normotensive). Reasons for disagreement were: controlled hypertensives with comorbidities such as angina or heart failure (4%), isolated elevated readings (3%), use of antihypertensive medication for separate indications (2%), other reasons (2%). The resulting sensitivity and specificity was 86% and 88% respectively. Including the recording of a diagnosis of hypertension in the definition increased the sensitivity to 98% with specificity unchanged at 88%. Actual sensitivity of the instrument when used in other practices is likely to lie between 88% and 98% depending on the quality of the doctor's recording of the diagnosis of hypertension. These findings suggest that data from primary care case notes can provide a ready and valid means of defining cases of hypertension for studying the management of hypertension in primary care and for research purposes.

Aged↗

PubMed1997

Doctors' attitudes towards the detection and treatment of hypertension in older people.

Within the former northern region a questionnaire was sent to a one in two random sample of general practitioners and to consultant physicians involved in the treatment of older hypertensive patients, to determine current attitudes of doctors to the management of hypertension in older people. A total of 407 general practitioners and 125 consultant physicians (including 38 consultant geriatricians) completed the questionnaire; response rates of 58% and 73% respectively. The median (range) threshold level for intervention of an otherwise well 75-year-old patient was 180 (140-240)/100 (90-120) mm Hg for general practitioners as against current recommendations of > or = 160/90 mm Hg. Geriatricians adopted significantly lower thresholds than both general practitioners and other specialists. Target blood pressure (BP) and drug therapy were in line with British Hypertension Society recommendations. The majority of general practitioners stated that they would initiate treatment for hypertension later, be less aggressive in their treatment and accept higher levels of BP than with younger patients. Approximately half perceived compliance and lifestyle changes as problematic in older people, while approximately a third were concerned about the problems created by drug treatment and uncertainty about the practicality of treating all older hypertensive patients. A quarter expressed reluctance to initiate hypertensive treatment because of side effects and to treat isolated systolic hypertension. These stated attitudes amongst general practitioners may explain the continuing conservatism in the management of hypertension. This study found considerable variation in diagnostic threshold between doctors, which suggests that current management of hypertension in older people is likely to vary significantly.

Aged↗

PubMed1997

The inter-rate reliability of a generic measure of severity of illness.

BACKGROUND: There has been increasing interest in the development of measures to quantify baseline severity of illness and thus provide a more meaningful interpretation of health outcomes. OBJECTIVE: We aimed to assess the inter-rater reliability of a generic measure of illness severity, the Duke University Severity of Illness (DUSOI) checklist. METHODS: Selected general practices and hospital outpatient departments across Tyneside and Humberside in the UK were used as the setting. Thirty-three clinicians were posted copies of the same set of 14 patient records and asked to rate the severity of illness of each patient using the DUSOI. The subjects were 27 GPs, three consultant chest physicians and three diabetologists. The main outcome measures were: (i) intraclass correlation coefficients used to express clinician agreement upon severity scores; and (ii) a 'gold standard', constructed in order to assess clinician agreement upon the health problems identified in the patient record to be considered as constituents of overall severity. RESULTS: It was found that the degree of inter-rater reliability of severity scoring was satisfactory, with an intraclass correlation coefficient of 0.43. In terms of identification of problems to be rated, there was considerable agreement between raters and a specially compiled 'gold standard' of health problems. CONCLUSION: The DUSOI has potential use in routine clinical practice, but strategies should be developed in order to maximize the reliability of rating illness severity on such a generic measure.

Ambulatory Care↗

PubMed1996

North of England evidence based guidelines development project: methods of guideline development.

Explore the source record for details and available documents.

Angina Pectoris↗

PubMed1996

The Diabetes Health Profile (DHP): a new instrument for assessing the psychosocial profile of insulin requiring patients--development and psychometric evaluation.

The aim of the studies was to evaluate the psychometric properties and construct validity of the Diabetes Health Profile (DHP-1). Content for the DHP-1 was derived following in-depth interviews with 25 insulin dependent and insulin requiring patients, a review of the literature and discussions with health care professionals. Initial analysis of the factor structure of the DHP-1 was carried out on the responses of 239 insulin dependent and insulin requiring patients, with a mean age of 40.85 years (SD = 13.0), resulting in a 43 item three factor solution. The 43 item version of the DHP-1 was completed by 2,239 insulin dependent/requiring patients (mean age = 39.8, SD = 10) years. Fifty-one per cent were men. A forced three factor Principal Factoring Analysis with varimax rotation was carried out. Eleven items were excluded with item factor cross loadings > 0.30 or item factor loadings < 0.30. PAF analysis of the 32 items resulted in a three factor solution accounting for 33% of the total explained variance. The three factors were interpreted as Psychological Distress, Barriers to Activity and Disinhibited Eating. Factor congruence between subsamples were: Psychological distress (0.93), Barriers to Activity (0.93) and Disinhibited Eating (0.99). Coefficients of congruence between men and women were 0.94, 0.92 and 0.99 for Psychological Distress, Barriers to Activity and Disinhibited Eating respectively. Internal consistency of the three factors (Cronbach's alpha) were: Psychological Distress (0.86), Barriers to Activity (0.82), and Disinhibited Eating (0.77). Construct-convergent validity was investigated on a sample of 233 insulin dependent and insulin requiring patients (mean age = 51.46 years). Psychological Distress and Barriers to Activity subscales correlated with the Hospital Depression and Anxiety Scale = 0.50 to 0.62, p < 0.01) and subscales of the SF-36 (range: r = -0.17 to -0.62, p < 0.01). These findings lend support to the construct validity and reliability of the DHP-1 and that it is suitable for further development.

Adult↗

PubMed1996

The costs and benefits of asking patients for their opinions about general practice.

BACKGROUND: Patient views are important in the evaluation of the quality of health care. The use of surveys needs to be evaluated to determine their cost-effectiveness and benefits. OBJECTIVES: To determine the costs of conducting patient opinion surveys in general practice and to find out how effective patient surveys are in stimulating changes which are beneficial for patient care. METHOD: Postal questionnaire to all 102 medical audit advisory groups (MAAGs) and 98 family health services authorities (FHSAs) in England and Wales, followed by postal questionnaire to 302 general practices reported to have conducted surveys, sampled by the type or questionnaire used. Numbers of MAAGs and FHSAs reporting surveys in general practice; types of questionnaire used; estimated costs; changes made; and benefits identified were measured. RESULTS: Eighty-five (83%) MAAGs and 75 (77%) FHSAs responded. One hundred and fifty-four (96%) of MAAGs or FHSAs reported survey activity. Types of questionnaire used were 1) designed by the practice, 2) designed by the MAAG or FHSA, possibly in collaboration with a practice, or 3) standard 'off-the-shelf'. One hundred and thirty-three (44%) practices responded. Total costs to a practice of conducting a survey ranged from nothing to over 2200 Pounds. Questionnaires designed by the practice are likely to be more costly than other designs. Some practices had surveys provided free of charge by MAAG or FHSA. Sixty-one per cent of practices said changes had been implemented and a further 22% of practices said changes were planned. The most common change was to appointment systems. Benefits were identified for patients, staff, the practice, the MAAG or FHSA and the NHS. Surveys also brought benefits in relationships and understanding. Only 8.2% of practices felt the costs of surveys outweighed the benefits. CONCLUSIONS: Many practices are surveying patients' opinions. Surveys can be costly but MAAGs and FHSAs can provide expertise and resources. Surveys using any of the types of questionnaire are likely to lead to changes and identifiable benefits. Benefits of surveys are perceived by the majority of practices to outweigh the costs.

Cost-Benefit Analysis↗

PubMed1996

Accuracy and reliability of assessment of severity of illness before and after an educational intervention.

Severity-of-illness measurement is considered to be an important factor in the risk adjustment of medical outcomes. However, for those measures that involve a high level of clinical judgment, strategies have to be developed to maximize the consistency of rating severity that can be implemented, especially when rating is based upon medical record review. A group of 25 clinicians were sent the same set of 14 patient records, and requested to use the Duke University Severity of Illness (DUSOI) checklist to rate the severity of patients' illness. Written instructions for the use of this instrument were provided. A short educational intervention was than made by the research team, and the clinicians were sent the same set of records to be rated again. Any improvement in the accuracy and reliability of severity assessment over the two ratings was then studied. The educational intervention resulted in identification of fewer irrelevant health problems. However, it had little impact upon the reliability of severity scoring itself, as measured by the intraclass correlation coefficient. Measuring severity of illness is a conceptually complex procedure. However, given its role in outcome interpretation, it may be worth pursuing strategies aimed at maximizing consistency of clinician rating. There are a number of options, including improved written instructions and more intensive training, that could be implemented.

Clinical Competence↗

PubMed1996

Setting standards of prescribing performance in primary care: use of a consensus group of general practitioners and application of standards to practices in the north of England.

BACKGROUND: There is considerable variation in prescribing, and existing standards against which primary care prescribing is routinely judged consist largely of local or national averages. There is thus a need for more sophisticated standards, which must be widely applicable and have credibility among the general practice profession. AIM: A study aimed to develop a range of criteria of prescribing quality, to set standards of performance for these criteria, and apply these standards to practices. METHOD: A consensus group consisting of eight general practitioners and a resource team was convened to develop and define criteria and set standards of prescribing performance using prescribing analyses and cost (PACT) data. The standards were applied to 1992-93 prescribing data from all 518 practices in the former Northern Regional Health Authority. RESULTS: The group developed criteria and set numeric standards for 13 aspects of prescribing performance in four areas: generic prescribing, prescribing within specific therapeutic groups, drugs of limited clinical value and standards based on prescribing volume. Except for generic prescribing, standards for individual criteria were achieved by between 9% and 34% of practices. For each criterion, a score was allocated based on whether the standard was achieved or not. Total scores showed considerable variation between practices. The distribution of scores was similar between fundholding and non-fundholding practices, and also between dispensing and non-dispensing practices. CONCLUSION: Using a consensus group of general practitioners it is possible to agree criteria and standards of prescribing performance. This novel approach offers a professionally driven method for assessing the quality of prescribing in primary care.

Drug Prescriptions↗

PubMed1995

Developing clinically valid practice guidelines.

Valid guidelines, when appropriately disseminated and implemented, can lead to changes in clinical practice and improvements in patient outcome. Guidelines are more likely to be valid if they are developed using systematic reviews, national or regional guideline development groups (including representatives of key disciplines) and explicit links between recommendations and scientific evidence. This paper discusses the practical implications of adopting this approach for guideline development and the role of peer review guidelines as another element of the process to ensure validity. Considerable resources are required to develop evidence-linked guidelines, but this investment can be recouped by relatively small changes in the process or outcome of care. Good leadership and technical support are required for the successful development of clinically valid guidelines, which is dependent upon the small-group processes of guideline development panels and the translation of evidence into recommendations. Future guideline developers need to gain expertise in these areas. Research priorities are identified.

Consensus Statements as Topic↗