Biomedical subjects
Publications and source records attributed to P Beighton.
Eleven sets of conjoined twins have been born in Southern Africa in a period of just over twelve months. Analysis of the circumstance pertaining to the conception and delivery of these children revealed considerable ethnic, geographic, and socioeconomic differences. It is possible that a ubiquitous environmental agent is a precipitating factor in this situation.
Idiopathic necrosis of the femoral head, with progressive articular destruction, is a well-recognised disorder in the South African Negro. Twenty-nine cases were studied in detail. In 17 there was evidence of associated iron overload, but it is unlikely that this contributed directly to the occurence of osteonecrosis. The syndrome of siderosis, scurvy and osteoporosis in Johannesburg Blacks is attributed to the ingestion of large quantities of iron in home-brewed beer. Often the beer is mixed with much more potent liquor and it is postulated that this, rather than the iron overload, is the cause of 'idiopathic' femoral head necrosis.
The prevalence of osteo-arthrosis of the hip, the knee, the small joints of the hand and the metatarsophalangeal joint of the big toe, has been studied in a South African Negro population. The pattern of joint involvement differed considerably from that expected in a White population. Interphalangeal osteo-arthrosis was much less common in Black women than in White, and Heberden's nodes were seen in only 3 of 93 respondents who were over 65 years of age. Osteo-arthrosis of the metacarpophalangeal joints also, was less common in Black women than in White, but the Black men showed a much greater involvement than that seen in White men. As in White peoples, osteo-arthrosis of the metatarsophalangeal joint of the big toe was commoner in women than in men, but the over-all prevalence did not reach the high levels in Whites. Osteo-arthrosis of the knee was much commoner in the women than in the men; this was associated with a marked tendency to obesity in the older women. The hip joint which is a common site for osteo-arthrosis in Whites, was seldom affected in this Black population. It is clear from this study that the apparent rarity of certain forms of degenerative arthritis in the South African Negro is not owing to any inherent resistance to the disease, because osteo-arthrosis of certain joints, such as the knee in women and the metacarpophalangeal joints in men, is even more common in Blacks than in Whites. The differences encountered can, in many instances, be attributed to differences in occupation and life style in the two populations; but genetic factors, may also play a part in the sense that certain predisposing disorders, such as congenital subluxation of the hip, appear to be far less common in Blacks than in Whites.
Epidemiological studies to determine the prevalence of rheumatoid arthritis (RA) have been carried out in two South African Negro populations: one rural people in the north-western Transvaal, and the other an urban community in Johannesburg. Altogether 1352 subjects over the age of 15 years were examined clinically and radiologically; serological tests for rheumatoid factor (RF) were carried out in 920. Rheumatoid arthritis was graded 'definite' or 'probable' on the basis of a modification of the 'Rome criteria' of 1963. A marked difference in the prevalence of RA was encountered in the two populations. Among the rural Blacks only 1 respondent had definite RA and 6 had probable RA, giving a prevalence of 0,87% for combined definite and probable RA. Among the urban group 5 respondents had definite RA and 13 had probable RA, a combined prevalence of 3,3%. This difference is statistically highly significant (P less than 0,01). Moreover, the form and severity of the disorder differed markedly in the two populations. In the rural community such changes as were encountered were invariable mild and no-one had clinical features resembling classical rheumatoid arthritis; by contrast, among the urban Blacks the changes resembled those of rheumatoid disease in White populations. Such marked differences in genetically closely related communities point to the importance of sociological and environmental factors in the pathogenesis of rheumatoid arthritis.
An aetiological survey of a Cape Peninsula school for the deaf, in which 366 Cape Coloured and Asiatic children were examined, is reported. The relevant hereditary factors and the abnormal clinical findings are documented, and the more important of these are discussed. In 20% (74) of the children, the deafness was genetic; in 36% (132) it was acquired, and in 44% (160) it was cryptogenic.
The autosomal dominant variety of craniometaphyseal dysplasia was diagnosed in 8 members of three generations of a White family living in the Cape Province and in Natal. Radiographic investigations of these individuals permitted assessment of the spectrum of involvement and of the age relationship of the abnormalities. Characteristic radiographic features included cranial hyperostosis and sclerosis, in association with metaphyseal splaying. Diagnostic precision in this order permits accurate prognostication and rational genetic counseling.
A kindred with a unique autosomal dominantly inherited ataxia of late onset is described. Manifestations of the condition include defective optokinetic nystagmus and absent or abnormal oculo-vestibular responses, in association with normal cochlear function. It is possible that these latter features may serve as "markers" to indicate the presence of the disease in presymptomatic young adults, thereby facilitating important genetic counseling.
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(1) An epidemiological study of a rural African community has been carried out in the Western Transvaal. Altogether 801 respondents over 15 years old were examined; radiographs of the hands and feet were obtained in all these individuals. Serological tests for rheumatoid factor were carried out on 516 blood samples. (2) The diagnosis of inflammatory polyarthritis was based on a modification of the Rome Criteria of 1961. Two categories were defined: 'definite' and 'probable' rheumatoid arthritis. (3) In this population inflammatory polyarthritis was much less common and much milder in its manifestations than in European and American peoples. The prevalence of 'definite' rheumatoid arthritis was 0.12% and of 'definite' and 'probable' rheumatoid arthritis combined, 0.87. Such changes as were encountered on clinical and radiological examination were invariably mild; no respondent in the entire survey had clinical features that would have been accepted in the ordinary way as those of rheumatoid arthritis. (4) The latex fixation test (LFT) was positive in 8.9% of the sera tested; the modified LFT aftaer inactivation of the serum at 56 degrees C was positive in 15.1% of cases. Similar findings in West African populations have been explained on the basis of alteration of the immune response by widespread parasitic infections. No obvious aetiological factor of this type was found in the present survey.
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This paper reports radiological findings in a series of 17 South African patients with chronic (adult or non-neuronopathic) Gaucher's disease. Osteoarticular signs are briefly analysed on the basis of their pathogenesis. The visceral findings included an enormous calcified spleen and three cases with pulmonary lesions. Important advances have been made recently in diagnosing. Gaucher's disease and detecting carriers by demonstration of deficiency of beta-glucosidase. Radiographs are not diagnostic, but they may provide valuable clues to the nature and extent of lesions in bone, and they are essential in orthopaedic management of Gaucher's disease.
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Explore the source record for details and available documents.
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