University of Wales

About: University of Wales is a education organization based out in Cardiff, United Kingdom. It is known for research contribution in the topics: Population & Poison control. The organization has 12462 authors who have published 16873 publications receiving 700173 citations. The organization is also known as: Prifysgol Cymru.

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.

Abstract: A locus segregating with familial Alzheimer's disease (AD) has been mapped to chromosome 21, close to the amyloid precursor protein (APP) gene. Recombinants between the APP gene and the AD locus have been reported which seemed to exclude it as the site of the mutation causing familial AD. But recent genetic analysis of a large number of AD families has demonstrated that the disease is heterogeneous. Families with late-onset AD do not show linkage to chromosome 21 markers. Some families with early-onset AD show linkage to chromosome 21 markers, but some do not. This has led to the suggestion that there is non-allelic genetic heterogeneity even within early onset familial AD. To avoid the problems that heterogeneity poses for genetic analysis, we have examined the cosegregation of AD and markers along the long arm of chromosome 21 in a single family with AD confirmed by autopsy. Here we demonstrate that in this kindred, which shows linkage to chromosome 21 markers, there is a point mutation in the APP gene. This mutation causes an amino-acid substitution (Val----Ile) close to the carboxy terminus of the beta-amyloid peptide. Screening other cases of familial AD revealed a second unrelated family in which this variant occurs. This suggests that some cases of AD could be caused by mutations in the APP gene.

Dermatology Life Quality Index (DLQI)—a simple practical measure for routine clinical use

Abstract: A simple practical questionnaire technique for routine clinical use, the Dermatology Life Quality Index (DLQI) is described. One hundred and twenty patients with different skin diseases were asked about the impact of their disease and its treatment on their lives; a questionnaire, the DLQI, was developed based on their answers. The DLQI was then completed by 200 consecutive new patients attending a dermatology clinic. This study confirmed that atopic eczema, psoriasis and generalized pruritus have a greater impact on quality of life than acne, basal cell carcinomas and viral warts. The DLQI was also completed by 100 healthy volunteers; their mean score was very low (1.6%, s.d. 3.5) compared with the mean score for the dermatology patients (24.2%, s.d. 20.9). The reliability of the DLQI was examined in 53 patients using a 1 week test-retest method and reliability was found to be high (gamma s = 0.99).

Two‐sided confidence intervals for the single proportion: comparison of seven methods

Abstract: Simple interval estimate methods for proportions exhibit poor coverage and can produce evidently inappropriate intervals. Criteria appropriate to the evaluation of various proposed methods include: closeness of the achieved coverage probability to its nominal value; whether intervals are located too close to or too distant from the middle of the scale; expected interval width; avoidance of aberrations such as limits outside [0,1] or zero width intervals; and ease of use, whether by tables, software or formulae. Seven methods for the single proportion are evaluated on 96,000 parameter space points. Intervals based on tail areas and the simpler score methods are recommended for use. In each case, methods are available that aim to align either the minimum or the mean coverage with the nominal 1 -alpha.