Oculocutaneous albinism in a rural community of South Africa: a population genetic study.

Oculocutaneous albinism type II (OCA2), the most common form of albinism worldwide, is prevalent throughout sub-Saharan Africa. The hypopigmentory phenotype distinguishes affected individuals as 'different' in a black population, resulting in problems of social acceptance and integration. Health issues include constant, lifelong sun-induced skin damage and poor vision. This study determined the frequency and distribution of albinism among the Vhavenda ethnic group living in the relatively low-income north of South Africa in a clan-oriented society. A retrospective study of birth records from regional hospitals gave an incidence of OCA of 1 in 1970, whereas a survey of mainstream schools gave a frequency of only one pupil with albinism in 13,319 as most affected children attended the regional special school. A community-based field study of 35 rural villages gave a prevalence of 1 in 2239 for OCA. One clan, the Vhatavhatsindi, had a significantly higher frequency of 1 in 832. This epidemiological study provides the necessary data for developing health care and welfare system for families affected by albinism in this region.

Oculocutaneous albinism in southern Africa: population structure, health and genetic care.

BACKGROUND: People with oculocutaneous albinism (OCA) have reduced levels of melanin in their hair, skin and eyes, with associated visual impairment and extreme sun sensitivity requiring lifelong monitoring. This genetic condition is surrounded by myth, superstition and fear in Africa, where affected individuals and their families may be rejected, shunned and excluded from their community. OBJECTIVE: This review reports population studies in southern Africa to determine the distribution of people with OCA in this predominantly rural and relatively impoverished area-crucial information for health and education providers. Health and genetic care studies document the range of eye and skin problems experienced and suggest effective and sustainable ways to manage these needs in a low resource setting. CONCLUSION: Innovative genetic care programmes in northern South Africa facilitate low-cost management of albinism, raise self-esteem and promote community awareness, helping to improve the long-term health prospects and social integration of those affected. This holistic approach of dealing with albinism from both a medical and a sociological perspective could be applied in other areas of Africa where this condition is prevalent.

A sociological study of children with albinism at a special school in the Limpopo province.

This article maintains that it is the social context, as much as, and sometimes more than the physical condition, that largely structures and limits the lives of people with albinism. It deals with albinism from a sociological, rather than a medical perspective. Viewed as such the problems experiencing by affected people stem primarily not from their physical differences but from the way others respond to those differences and from the social and physical environments they have to cope with. The article is based on a study of 32 children with albinism from a special school in the Limpopo province. Educational, health and social problems, attitude and perceptions about albinism were tested by way of structured interviews. The data reveal an acute lack of information about the causes and consequences of albinism. It projects it as a condition still deeply immersed in myths and superstition resulting in the stigmatizing and rejection of affected people. It also discloses a physical environment which is preventing rather than supporting people with albinism from reaching their potential. It calls for a reorientation in dealing with albinism--away from just medical intervention to treating it as a social construct requiring a holistic approach.

Health and education of children with albinism in Zimbabwe.

Albinism is a relatively common genetic condition in Zimbabwe, a tropical country in southern Africa. Those affected have little pigment in their hair, skin or eyes, in sharp contrast to the normal dark pigmentation. This article describes the responses to a self-report questionnaire covering health, social and educational aspects completed by 138 schoolchildren with albinism living in rural areas of Zimbabwe. They reported persistent skin and a myriad of eye problems. Relationships between siblings appeared good, although problems of antagonism, avoidance and fear were encountered among strangers. Knowledge about albinism was patchy; pupils were keen to be better informed. This research highlights the need for widespread dissemination of accurate information about the genetics and health management of albinism to counter the many myths and misconceptions surrounding this condition. A management programme to promote the health and education of these children in southern Africa is proposed. In conclusion, this study indicated that pupils with albinism could participate in mainstream education, with appropriate intervention to help them manage the problems associated with their low vision and sensitive skins.

Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene.

In previous studies, we characterized a 2.7-kb interstitial deletion allele of the P gene associated with tyrosinase-positive oculocutaneous albinism (OCA2) in African Americans and Africans. In this study, we investigated the frequency of this allele among OCA2 subjects in two African countries, Zimbabwe and Cameroon. The deletion allele was most common in Zimbabwe, comprising nearly all (92%) mutant alleles, which is the highest incidence reported so far. In addition, the deletion allele was widespread but less common among OCA2 Cameroonians and accounted for 65% of the mutant alleles.

Oculocutaneous albinism in an isolated Tonga community in Zimbabwe.

Oculocutaneous albinism (OCA) is a recessively inherited genetic condition prevalent throughout sub-Saharan Africa. We now describe a cluster of tyrosinase positive OCA (OCA2) cases belonging to the Tonga ethnic group living in the Zambezi valley of northern Zimbabwe. The prevalence in this region was 1 in 1000, which is four times higher than that for the country as a whole. The gene frequency for OCA2 in this population was calculated as 0.0316, with a carrier rate of 1 in 16. Molecular analysis showed that all five affected subjects from two independent families examined were found to be homozygous for an interstitial 2.7 kb deletion mutation commonly found in OCA2 subjects in Africa. An obligate carrier from another family was heterozygous for this deletion allele. Affected subjects in this isolated community suffered health, social, and economic problems.

Distribution of oculocutaneous albinism in Zimbabwe.

A survey of 1.3 million schoolchildren in Zimbabwe identified a total of 278 pupils with oculocutaneous albinism (OCA), giving a prevalence of 1 in 4728. Pupils with OCA were identified in every province of the country, but the distribution was not even. In certain areas, notably the capital, Harare, and the eastern province of Manicaland, the frequency was significantly higher than in others. Although most of the pupils with albinism belonged to the majority Shona ethnic group, people with OCA were also found among the minority population groups in the country. There were almost twice as many pupils with albinism in rural compared with urban schools (248 v 129). However, the prevalence of OCA was significantly higher in urban than rural areas. These results indicate that data for a country collected solely in urban locations are likely to be biased and emphasise the need for widespread distribution of health and special educational facilities for affected people.

Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe.

The term oculocutaneous albinism (OCA) covers a range of autosomal recessive genetic conditions involving hypopigmentation of the skin, hair, and eyes. In southern African black ethnic groups the tyrosinase positive form, OCA2, is predominant, with few cases of tyrosinase negative OCA1. The prevalence of OCA2 in schoolchildren in Harare, the capital city of Zimbabwe, was found to be 1 in 2833. The gene frequency for OCA2 was 0.0188, with a carrier frequency of 1 in 27. Most of the pupils with albinism belong to the majority Shona ethnic group. As consanguineous marriages are discouraged in the Shona culture this high rate is likely to be a result of genetic drift in a relatively small population showing limited mobility. OCA pupils were found in more than a third of the secondary schools in Harare, emphasising the importance of distributing information on albinism and its management widely throughout the school system.

[Clinical assessment of acute ankle injuries in relation to the need of radiography]. / Klinisk vurdering af akutte ankelskader med henblik på behov for røntgenundersøgelse.

The object of the present investigation was to attempt to assess the value of some selected individual aspect of the clinical examination of patients with acute ankle injuries with tenderness, swelling or haematoma in the neighbourhood of the lateral malleolus. An attempt was made to investigate whether it was possible to differentiate the group of patients in whom radiographic examination of the ankle was necessary and whether this could be done with sufficient certainty on the basis of the clinical parameters examined. The results are presented in the form of calculation of the diagnostic frequencies. Absence of tenderness over the posterolateral edge of the lateral malleolus was found to be the clinical finding which could be employed to exclude fracture with greatest certainty, as the true negative diagnostic frequency was found to be 97.33 (90.70-99.68). This certainty is of the same magnitude as the certainty of previously selected criteria but the examination appears to be simpler and more objective.

Peroneal muscle function in chronically unstable ankles. A prospective preoperative and postoperative electromyographic study.

In 33 patients with unilateral chronic ankle instability, peroneal muscle function was evaluated by surface electromyography (EMG) pre- and postoperatively. Twenty-six patients had a static reconstruction using the whole peroneus brevis tendon and seven patients had a dynamic one using only the anterior half of the tendon. At plantar flexion the peroneal EMG activity was markedly higher in men than in women, otherwise there were no differences between the sexes. Neither pre- nor postoperatively were there any significant differences between the patients' healthy and diseased legs. Postoperatively and after physiotherapy, there was a significant increased peroneal activity in both legs of the patients. The peroneal EMG activity was increased after operation, although the type of operation seemed to make no difference. A difference between the two types of reconstructions could only be shown at dorsal flexion, with the higher response in the dynamic reconstructed patients, because of the existing tension elicited of the remaining intact half tendon. This difference is probably not important for peroneal muscle function. Peroneal neuromuscular integrity was intact and independent of preoperative instability and the method of reconstruction.

Mapping of the ras1 gene of Schizosaccharomyces pombe.

The ras1 gene, an oncogene homologue, is known to be essential for recognition of the mating pheromone and hence for conjugation but not for vegetative growth in Schizosaccharomyces pombe. To facilitate further characterization and genetic manipulation of this gene, we have mapped it by using S. pombe strains which carry the Saccharomyces cerevisiae LEU2 gene inserted next to ras1 on the chromosome. Crosses with tester strains revealed that ras1 is tightly linked to pro2 on chromosome I. Furthermore, we have shown that ras1 is allelic with ste5, one of the sterility genes described by O. Girgsdies. The map position previously reported for ste5 eventually turned out to be false.

Ruptures of the extensor mechanism of the knee joint. Clinical results and patellofemoral articulation.

The functional results of 28 cases of rupture of the quadriceps and patellar tendons are reported. Excellent or good results were noted in 15 of 18 quadriceps and 7 of 10 patellar tendons. Radiographic comparison with the opposite knee disclosed incongruences between the patella and the femoral groove in the tangential view and/or cranial-caudal position of the patella in the lateral view in 13 of the quadriceps tendon ruptures and seven of the patellar tendon ruptures. Patients with residual pain had patellofemoral incongruity but since two-thirds of the patients with incongruity were asymptomatic, incongruity alone may not be the cause of the symptoms. There was no positive correlation to muscular strength or range of movement. Nevertheless, exact adaptation of the patellar tendon and periarticular tissue seems necessary to obtain correct patello-femoral articulation. Reinforcement of the tendon with a wire cerclage is recommended to decrease the tension on the suture line and the consequent risk of a secondary rupture. In acute ruptures of the quadriceps tendon end-to-end sutures are sufficient.

Transformation of psi- Saccharomyces cerevisiae to psi+ with DNA co-purified with 3 micron circles.

DNA enriched for supercoiled plasmids prepared from the 3 micron plasmid-enriched, [psi+], [2 micron degrees] strain 6-1G-P188 and from the [2 micron+] [psi+] strain LL20 can be used to transform a psi- recipient strain to psi+. Fractionation of the former preparation by electrophoresis showed that the 3 micron plasmid band contained the transforming activity.

Marathon volleyball: changes after 61 hours play.

A description of symptoms after long-standing physical activity has been the purpose of this study. Twelve healthy, well trained young men who participated in a marathon volleyball game were interviewed and examined 1 day, 1 week and 5 weeks after the game, which lasted 61 hours, 23 mins. During the game, and on the day after, different psychological symptoms appeared. These had all disappeared by the second day. Somatic symptoms were dominated by over-strain injuries to the locomotor system. At the first, second and third examinations the total number of injuries were 29, 26 and 9 respectively. These symptoms were diminishing in spite of continued physical activity and it is suggested that over-strain injuries might be sufficiently treated by moderate activity instead of recommending a period of total cessation from sports activities.