Biomedical subjects
Publications and source records attributed to A T Moore.
We report the exclusion of a locus for autosomal dominant retinitis pigmentosa proximal to the rhesus locus in a single large pedigree. In addition, a previously unreported linkage is described between two chromosome 1 markers, which confirms that a highly variable minisatellite locus is placed internally on chromosome 1.
We report a case of Alstrom's syndrome with hypothyroidism in addition to the cardinal features of blindness, deafness, obesity, and insulin dependent diabetes mellitus. The parents were first cousins once removed which strengthens the case for autosomal recessive inheritance.
A 20-fold variation in referral rates from general practitioners to hospital outpatient departments has been shown in studies published to date. Most of the hypotheses proposed to account for this variation have not been supported by these studies. A simple model was constructed, which showed that a significant part of the variation may be due to the fairly small numbers of referrals in most studies. Real differences may have been swamped by random variations in the small numbers of referrals. The statistical power of the studies may not have been high enough to determine which factors were significant in describing the variation and how much of the variation was due to differing clinical practice. There remains a substantial part of the variation that cannot be accounted for.
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In a study of referrals to East Anglian hospitals 737 referrals in six specialties from three general practices were examined to see how accurately the hospital computer master index had identified the referring practice, the referring general practitioner and the doctor with whom the patient was registered. Although the practice was accurately identified by the hospital computer in 97% of referrals, the identification of the referring doctor and the patient's registered general practitioner were less reliable (72% and 49% respectively). It is concluded that at present the practice rather than the individual doctor may be the appropriate unit of analysis for studies of general practitioners' referral rates. This may be true for other performance indicators where information on a doctor's case mix and workload is not available. The results of this study emphasize that problems may arise if data relating to individual general practitioners are interpreted out of context of the practice and the way in which it is organized.
Before commencing rational control programmes for AIDS in Africa it is desirable to determine the relative importance of heterosexual and various non-sexual modes of transmission. We investigated this by comparing the seroepidemiologies of AIDS, hepatitis B and syphilis at two rural hospitals in southwest Uganda. During August 1986, 3% of 357 outpatients, reflecting the age and sex composition of the general population, were anti-HIV positive. Anti-HIV seropositivity, both in the outpatients and among 36 suspected prostitutes and 14 suspected AIDS cases, was confined to individuals aged 20 or over. For men, seropositivity was associated with sexual contact with prostitutes (a risk factor for 61% of young men in the study). In the prostitute group, 25% were anti-HIV positive and 46% were positive on the Treponema pallidum haemagglutination (TPHA) test for syphilis. The risk factors for HIV, but not hepatitis B, were the same as for having a history of sexually transmitted disease (STD). However, there was, surprisingly, an association between a history of STD and seropositivity for hepatitis B virus but not for HIV infection. The geographical and age distributions of seropositivity for HIV and hepatitis B virus were also quite different. Finally, blood transfusions, scarification and exposure to mosquitoes (as assessed by a history of malaria) were not evident risk factors for either HIV or hepatitis B virus. AIDS in rural Africa seems to differ in its epidemiology from hepatitis B and appears to be spread predominantly by pre-existing patterns of heterosexual activity responsible for high rates of other sexually transmitted diseases.
Fourteen families with genetically determined posterior retinal dystrophies were studied by fluorescein angiography. With one exception, the families could be segregated into two clearly defined categories, one in which every member had a dark choroid, and one where each had a light choroid. This implies that the fluorescein angiography provides a means of subdividing certain of these disorders into more specific disease groups.
Sixty patients with eye injuries resulting from the use of airguns were admitted to a large eye hospital over an 11-year period. The typical patient was a young male teenager; 70 per cent of patients were under the age of 17, the age at which it is legally permissible to own an air weapon. In 4 cases the missile lodged in the ocular adnexae, in 18 cases there was a penetrating eye injury and in 38 patients blunt nonpenetrating eye injury. The prognosis for visual recovery was poor especially following penetration of the globe; visual acuity was reduced to 6/60 or less in 40 per cent of all eyes and in 18 per cent the injured eye was excised.
Cambridge Health Authority accepted the gift of a whole body computed tomography (CT) scanner and radiotherapy planning system for Addenbrooke's Hospital (AH) from a local charity in 1981. The charity was to provide funds for the maintenance and all running costs for the first 5 years. Acceptance of the gift was conditional on an evaluation of the use of body CT before any decision about subsequent funding was made. The results of this evaluation are presented here. A detailed assessment fo 150 consecutive CT studies was performed together with an audit of CT use. The costs of running the CT unit and an indirect measurement of the benefits brought about by body CT were evaluated. In 86% of patients the CT findings were considered likely to have a great contribution to clinical management; in less than 10% was little or no benefit likely. In most patients (68%) CT was considered to have been more useful than any alternative test(s) would have been. The total cost of CT during the financial year 1983-84 was 219,163 pounds and the average cost per CT study was 73 pounds. The assessment indicated annual benefits fo 673,385 pounds including the saving of 3,880 inpatient bed days, 760 outpatient visits and alternative tests costing 290,684 pounds p.a. Some corroborative evidence that these benefits have occurred is presented. This study suggests a cost benefit ratio of 1:3.07.
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In 16 children with orbitocranial fibrous dysplasia confirmed histopathologically, facial asymmetry, orbital dystopia, and unilateral proptosis were the main presenting problems. Five children had radiological evidence of narrowing of the optic canal but only two developed optic atrophy and visual loss. One patient had persistent epiphora due to involvement of the bony nasolacrimal duct. Sixteen patients were treated by excision of the dysplastic bone and 15 had immediate craniofacial reconstruction. A good cosmetic and functional result was achieved in the majority of cases although transient vertical diplopia and minor degrees of ptosis occurred postoperatively in about a third. Fibrous dysplasia of the orbit is progressive in childhood and is best managed by radical surgery and reconstruction in a specialized craniofacial unit.
Of 76 children with histiocytosis X 18 had orbital involvement, and four developed additional neuro-ophthalmic complications. No instance of intraocular involvement was detected. Among those patients with ophthalmic involvement the main problems were bilateral or unilateral proptosis, ptosis, papilloedema, optic atrophy, and seventh nerve palsy. Only one patient developed a severe visual defect. Management of the ophthalmological complications depends not only on the extent of the orbital disease but also on the degree of systemic involvement. Overall management by a paediatric oncologist is mandatory.
Three unrelated patients with bilateral macular dysplasia ('colobomata') with no relevant family history were found to have absent or substantially abnormal electroretinograms, implying that there was an associated retinal dystrophy. This may suggest that the macular lesions are associated with a global failure of retinal development, with a regional preponderance rather than a purely localised cause such as an intrauterine infection. It is important to distinguish between congenital infections such as toxoplasmosis and developmental macular colobomata, which have a somewhat similar ophthalmoscopic appearance as a cause of bilateral macular abnormalities seen in young children, since they have different implications for genetic advice and future ophthalmic care.
Three children who presented in infancy with a severe visual defect and absent or barely recordable electroretinograms, with relatively well preserved visually evoked cortical potentials, were subsequently found to have vertical and horizontal saccade palsies with head thrusts but relatively good visual acuity. These children, who were clearly different from other infants with congenital retinal dystrophy, were also developmentally delayed and had systemic motor and speech defects, but their visual prognosis was relatively good. The recognition of their saccade palsy was delayed because their poor visual attention in infancy was ascribed purely to the tapetoretinal degeneration. We consider these patients represent a clear subset of those patients who are diagnosed as having congenital retinal dystrophy or Leber's amaurosis.
Prime plasmids have been isolated from Methylophilus methylotrophus AS1 using the IncP-1 plasmid pMO172. Such plasmids can complement mutant function when transferred to appropriate strains of Pseudomonas aeruginosa PAO. From the range of particular functions complemented by each prime plasmid, a preliminary map of the M. methylotrophus AS1 genome with four groups of linked markers was obtained. Physical examination of two of these prime plasmids showed that each had acquired an additional DNA segment. Southern hybridization experiments showed there was sequence homology between the additional DNA segments and M. methylotrophus AS1 DNA, confirming that these prime plasmids carried a segment of the M. methylotrophus AS1 genome. Mapping by complementation may be applicable to other bacteria in which mutants suitable for selecting recombinants are not readily available.
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Euthyroid rats had an immediate calorigenic response to L 3-5-3' triiodothyronine (T3) 5 microgram/kg of about +10% lasting 8 hr and a somewhat greater response to T.S.H. Larger doses (50 microgram/kg) of T3 had a latency of 4-5 hr but the response was greater and lasted longer.