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Biomedical subjects

C Foy

Publications and source records attributed to C Foy.

12 recordsLinked to original sources
PubMed1992

Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

Previous studies have localized the gene for Waardenburg syndrome (WS) type I to the distal portion of chromosome 2q, near the ALPP locus. We pooled linkage data obtained from 41 WS type I and 3 WS type II families which were typed for six polymorphic loci on chromosome 2q in order to refine the location of the WS locus (WS1) and evaluate the extent of genetic heterogeneity. In the course of this work, we developed diagnostic criteria for genetic and phenotypic studies. Our findings, based on two-locus and multilocus analysis using a linkage map established from reference pedigrees, suggest that there are two or more mutations causing WS, one of which (i.e., WS1) is located on chromosome 2q, between the ALPP and FN1 loci, at distances of 7.8 cM and 11.2 cM for each marker, respectively. The results also indicate that WS1 is responsible for the illness in approximately 45% of all families in this sample. However, the odds favoring this position over a location between ALPP and SAG are only 2:1 when alternate assumptions about the proportion of linked families are considered. We conclude that a more saturated map of this region of chromosome 2q, including highly polymorphic markers, will be needed to accurately distinguish linked families and, ultimately, isolate the mutant gene.

Alkaline Phosphatase↗
PubMed1990

HIV and measures to control infection in general practice.

OBJECTIVE: To assess the impact of HIV on procedures to control infection in general practices. DESIGN: A postal questionnaire survey. SETTING: General practices throughout Britain. SUBJECTS: 5359 General practitioners, 3429 (63.9%) of whom returned the questionnaire. MAIN OUTCOME MEASURE: Response to questionnaire on knowledge about HIV and policies for controlling infection. RESULTS: Most doctors (2018) had started to wear gloves when taking blood. Almost half (1510) had not resheathed needles previously but a further 776 had adopted this policy because of HIV. Over half of the doctors did not know or were unsure about the risk of infection from needlestick injuries, and 1759 had no practice policy for controlling infection. CONCLUSIONS: Many doctors are uncertain about measures to control infection in general practice. More information and advice are needed to help doctors develop policies to protect patients and staff.

Acquired Immunodeficiency Syndrome↗
PubMed1990

HIV infection and AIDS in England: the experience, knowledge and intentions of community nursing staff.

A postal survey of 5243 community nursing staff throughout England sought information about their experience, education, knowledge, confidence and beliefs in relation to the human immunodeficiency virus (HIV) and the acquired immune deficiency syndrome (AIDS). A response rate of 74% was obtained. While experience of patients positive for HIV antibody or with AIDS was limited, one-third of community nursing staff had encountered patients worried about HIV infection. However, most lacked confidence to provide health education, counselling and terminal care. A quarter felt that they should have the right to refuse to care for patients with AIDS, while 85% were concerned about their lack of experience. In order to play an effective role in the prevention and management of HIV infection, community nursing staff need to be assisted in making links between knowledge they already possess and its application to HIV infection, and in developing and practising skills.

Community Health Nursing↗
PubMed1990

HIV infection and AIDS in England and Wales: general practitioners' workload and contact with patients.

In mid-1988 a postal survey was conducted of one in five general practitioners in England and Wales, to examine their contact with people with human immunodeficiency virus (HIV) infection, with the acquired immune deficiency syndrome (AIDS) or with worries about HIV infection or AIDS. The response rate was 63.9%. Of the 3339 respondents 22.7% knew of an asymptomatic HIV positive patient within their practice, 5.4% knew of a symptomatic HIV positive patient and 6.4% knew of a patient with AIDS. The estimated annual rate for HIV-related consultations in general practice (including consultations with the 'worried well') was 6.5 per 1000 population. HIV-related consultations occurred more frequently in the four Thames health regions than elsewhere. A sample of 715 practitioners who reported consultations with HIV infected people or those with worries about infection in the previous month, were invited to keep a diary of HIV-related consultations for one week. The response rate to the diary was 64%. Nineteen per cent of the 273 consultations recorded in the diaries were initiated by homosexual men, 16.5% by injecting drug users, 10.3% by the sexual partners of people at risk of infection; 42.9% of consultations were not associated with recognized risk factors. The results indicate that general practitioners have substantial contact with patients with HIV infection, with AIDS and with worries about HIV infection or AIDS. This contact is likely to increase, alongside the anticipated spread of HIV infection, with consequent implications for general practice resources.

Acquired Immunodeficiency Syndrome↗
PubMed1990

Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.

We have demonstrated close linkage between the locus for the autosomal dominant Waardenburg syndrome type I and the placental alkaline phosphatase locus on chromosome 2q37. In five families the peak lod score was 4.76 at a recombination fraction of .023. In the mouse the Splotch locus maps to near the homologous position. Splotch mice have white spotting and hearing defects, suggesting that Splotch may be the murine homologue of Waardenburg syndrome type I.

Abnormalities, Multiple↗
PubMed1989

Comparison of two scores for allocating resources to doctors in deprived areas.

Current proposals in the general practitioner contract include additional payments to doctors working among deprived populations. The underprivileged area score will be used to identify local authority wards with the greatest levels of deprivation, thus acting as the basis for distributing considerable resources. Two methods of identifying deprived populations--the underprivileged area score and the material deprivation score--were compared to determine whether they result in similar allocation of resources to regions. Financial allocations to regions based on figures derived from the contract differed considerably if the material deprivation score was used instead of the underprivileged area score: Northern and Mersey regions gained over 50% of their allocation whereas East Anglia, Oxford, and South West Thames regions lost more than 30% of theirs. Such differences have considerable implications for doctors working among deprived populations as up to 60m pounds each year might be distributed by these payments.

England↗
PubMed1989

Prevention in practice: obstacles and opportunities.

General Practitioners are excellently placed within the community to provide health education and advice in relation to HIV infection and AIDS. This paper will report on some of the findings from the first national study of HIV infection and general practice in England and Wales. The findings cast light on the preparedness of practitioners to undertake health education on HIV infection. Findings that relate to the extent of contact that practitioners have with people with HIV infection, people with AIDS and people with worries about HIV infection or AIDS will be discussed in the light of opportunities that are created for HIV-related health education and prevention. Findings that relate to practitioners' opinions about providing health education and counselling, about working with people who are gay, bisexual and injecting drugs, and about confidentiality and consent, will be discussed in the light of obstacles that exist to the effective provision of HIV-related health education and prevention. The paper will conclude by discussing the implications of these findings for primary health care responses to HIV infection in Britain.

Attitude of Health Personnel↗
PubMed1987

Providing census data for general practice. 1. Feasibility.

The availability of census data to general practice is limited by the form of publication, restricted access to computerized data and the technical difficulties of linking computerized information to a practice population. In a feasibility study it is shown how a population registered with a general practice may be linked through postcodes to computerized enumeration district data. Examples of the data available are discussed together with current problems of postcode/enumeration district mismatch. Suggestions are made for ensuring that general practitioners have access to the 1991 census data.

Catchment Area, Health↗
PubMed1987

Providing census data for general practice. 2. Usefulness.

Computerized census data are described in relation to a general practice population. The previously published methods for scoring deprivation - underprivileged areas score and material deprivation score - are applied to the data. Wards and enumeration districts within a single practice area are ranked by both methods and examples show the wide variation in deprivation scores for enumeration districts within single wards. The value of these data to a general practice is discussed with particular reference to developing a profile of the practice and to planning prevention and anticipatory care.

Catchment Area, Health↗