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Norrie disease

Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appear white when light is shone on them, a sign called leukocoria. The irises or the entire eyeballs may shrink and deteriorate during the first months of life, and cataracts may eventually develop. more...

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About one third of individuals with Norrie disease develop progressive hearing loss, and more than half experience developmental delays in motor skills. Other problems may include mild to moderate mental retardation, often with psychosis, and abnormalities that can affect circulation, breathing, digestion, excretion, or reproduction.

Mutations in the NDP gene cause Norrie disease. The NDP gene produces a protein called norrin, which is believed to be crucial to normal development of the eye and other body systems. In particular, it seems to play a critical role in the specialization of retinal cells for their unique sensory capabilities. It is also involved in the establishment of a blood supply to tissues of the retina and the inner ear. This condition is inherited in an X-linked recessive pattern.

This article incorporates public domain text from The U.S. National Library of Medicine

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Risk assessment in primary prevention of coronary heart disease: randomised comparison of three scoring methods
From British Medical Journal, 3/11/00 by Christopher G Isles

That lipid lowering with statins benefits even those at low risk of coronary heart disease is no longer open to question. The challenge now is for clinicians to strike a balance between what is desirable, affordable, and achievable. As serum total cholesterol concentration alone poorly predicts cardiovascular risk, alternative methods of risk assessment have been proposed. We compared the ability of general practitioners and practice nurses to interpret three of these methods. We chose the revised Sheffield table,[1] the New Zealand guidelines,[2] and the joint British chart[3] because all three included age, sex, smoking and diabetes status, blood pressure, and ratio of total cholesterol to high density lipoprotein cholesterol as part of their risk assessment.

Subjects, methods, and results

All 37 general practices in Dumfries and Galloway, in Scotland, were randomised to receive the three risk scores in different sequences, each with the same set of 12 case histories. A self nominated general practitioner and nurse in each practice were each asked whether coronary risk exceeded 3% per year (Sheffield table), whether it exceeded 30% over 10 years (joint British chart), or whether cardiovascular risk exceeded 20% over five years (New Zealand guidelines) for each case history. These thresholds were chosen to reflect current practice.[4 5] Doctors and nurses also rated each guideline for ease of use and preference, using scales from 1 to 5 (5 = easiest or most preferred).

Accuracy, ease of use, and preference were compared for doctors and nurses separately, first with Freidman's test overall and then with Wilcoxon's signed rank tests on the differences for each subject for pairs of guidelines. P values reported are unadjusted for multiple comparisons, but the results stand after correction with the Bonferroni method.

Two practices did not have a practice nurse. In another practice the same nurse did not score all three guidelines, and so the results were excluded from the analyses of ease of use and preference. In all, 33/37 doctors and 22/35 nurses scored at least 10 of 12 case histories correctly when using the Sheffield table; corresponding numbers for the New Zealand guidelines were 37 and 33 respectively and for the joint British chart 36 and 34 respectively. There were no significant differences between the three scores for doctors, whereas accuracy among nurses was significantly poorer (P [is less than] 0.001) with the Sheffield table than with each of the other two guidelines (table). Only 6 doctors and 6/34 nurses gave the Sheffield table a high preference rating (4 or 5). More doctors and nurses gave high preference scores for the New Zealand guidelines (26 doctors and 25 nurses) and for the joint British chart (23 and 25) (P [is less than] 0.001 for the Sheffield table compared with each of the other two guidelines for both doctors and nurses). Similar results were found for ease of use (table).

Comment

Of these three risk assessment methods, nurses are more likely to interpret correctly the New Zealand guidelines and joint British chart, and both general practitioners and nurses not only find these two methods easier to use but also prefer them to the Sheffield table.

The main strength of our study was that a named general practitioner and nurse within every practice in Dumfries and Galloway completed a formal assessment of each of the three risk scores. A possible limitation is that the study was confined to a single health board. We have no reason to believe, however, that general practitioners and nurses in Dumfries and Galloway are unrepresentative of their colleagues elsewhere in Scotland and the United Kingdom or that the responses would have been different had we assessed the risk scores during clinical contacts.

We have shown that cardiovascular risk assessment by tables and charts based on the Framingham equation is acceptable to both general practitioners and nurses. The results of our study favour the New Zealand guidelines and the joint British chart, the latter of which may be the more suitable for use in primary care. The continuous scale for systolic pressure facilitates assessment of blood pressure and the risk chart is also available as a computer program.

We thank our medical and nursing colleagues in primary care who gave so generously of their time, enabling us to complete this study with such a high response rate; Dr Neil Campbell and Miss Jill Mollison for additional statistical advice; and Mrs Josephine Campbell for her help in preparing the manuscript.

Contributors: CGI, LDR, and JN designed the study. CGI was responsible for its execution. The data were analysed by PM and JN. The paper was written jointly by CGI and LDR, both of whom will act as guarantors.

Funding: None.

Competing interests: None declared.

Comparison of three methods of risk assessment for coronary heart disease among 37 general practitioners and 35(*) practice nurses. Values in parentheses are approximate 95% confidence intervals

The overall P value is a Friedman test; the pairwise comparisons are Wilcoxon's signed rank tests on the median differences between matched pairs.

(*) 34 for analyses of preference and ease of use (see text).

[1] Haq IU, Jackson PR, Yeo WW, Ramsay LE. A comparison of methods for targeting CHD risk for primary prevention. Heart 1997;77(suppl 1):36.

[2] Dyslipidaemia Advisory Group, on behalf of the Scientific Committee of the National Heart Foundation of New Zealand. 1996 National Heart Foundation guidelines for the assessment and management of dyslipidaemia. N Z Med J 1996; 109:224-32.

[3] Working Party of the British Cardiac Society, British Hyperlipidaemia Association and British Hypertension Society. Joint British recommendations on prevention of coronary heart disease in clinical practice. Heart 1998;80(suppl 2):S 1-29.

[4] Winyard G. Standing Medical Advisory Committee statement on the use of statins. London: Department of Health, 1997. (EL(97)41HCD750IP, Aug 1997.)

[5] Scottish Intercollegiate Guidelines Network. Lipids and primary prevention of coronary heart disease. Edinburgh: Royal College of Physicians, 1999. (SIGN publication No 40.)

(Accepted 11 November 1999)

Editorial by Jackson

Medical Unit, Dumfries and Galloway Royal Infirmary, Dumfries DG1 4AP

Christopher G Isles consultant physician

Department of General Practice and Primary Care, University of Aberdeen, Aberdeen AB25 2AY

Lewis D Ritchie Mackenzie professor of general practice

Peter Murchie clinical research fellow

Robertson Centre for Biostatistics, Boyd Orr Building, University of Glasgow, Glasgow

John Norrie senior statistician

Correspondence to: C G Isles chrisisles@ glebehouse.sol.co.uk

BMJ 2000;320:690-1

COPYRIGHT 2000 British Medical Association
COPYRIGHT 2000 Gale Group

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