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Within a wider discussion of health service provision for black and minority ethnic (BME) groups, this paper considers how socio-cultural factors affect the provision of HIV and sexual health services to South Asians in London. It argues that communally held concepts of honour and shame within South Asian communities create a framework of social control with significant implications for HIV/AIDS transmission. It examines the provision of culturally sensitive services to BME communities by ethnically specific and generic service providers through a case study of the Naz Project London. Finally, it proposes an agenda for future research into BME sexual health service provision. [ABSTRACT FROM AUTHOR]

Rett syndrome consists of a progressive encephalopathy and psychomotor deterioration in young females who have appeared clinically normal until between six and eighteen months of age. The syndrome has incidence similar to that of phenylketonuria and autism in females. It has been widely recognised only since 1983. After six months of age head growth decelerates associated eventually with severe dementia, and autism, apraxia, stereotypic "hand washing" movements and loss of previously acquired skills occurs. Supportive symptoms may include breathing dysfunction, seizures, EEG abnormalities, and growth retardation. Occurrence indicates sporadic new mutations as a cause. The case histories of two patients diagnosed in New Zealand are described.

A partial carbamylphosphate synthetase (CPS: EC 6.3.4.16) deficiency (McKusick 23730) was found in a male child who presented with generalized convulsions, rickets and apnoeic attacks at six months of age. By his second year he showed serious developmental delay and a gut biopsy revealed an absence of CPS activity with an elevated ornithine transcarbamylase activity. Analysis of the gut biopsy sample on SDS-polyacrylamide gels, followed by electrophoretic transfer to a nitrocellulose filter probed with monospecific antibodies to CPS showed that the child had normal levels of immunoreactive enzyme, but instead of one band corresponding to normal CPS with a subunit size of 165,000 u, the patient had three immunoreactive bands, one larger and two smaller than that found in normal controls. The genetic defect in this child therefore results in an unusual form of CPS being made which has markedly reduced enzyme activity.

Two unrelated families with metachromatic leukodystrophy have been examined for the leukocyte enzyme arylsufatase A. The enzyme activities clearly reflect an autosomal recessive mode of inherence. All four parents showed heterozygote enzyme levels 40-60 percent of the control range while the two affected children had less than 20 percent normal activity. The two sibs of one affected child were shown to be heterozygote carriers. A simple screening method for sulfatase activity in tears has been developed which distinguished between metachromatic leukodystrophy patients and a control population which included other neurological disorders. Enzyme screening on tears may also be used to detect other lysosomal storage diseases including Tay-Sachs and Fabry disease.

Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome) form B is a rare disease occurring in siblings. It may present with radiological features like Perthes' disease or hypothyroidism. We report two such cases, and discuss the differential diagnosis of the spondylo-epiphyseal dysplasias. We stress the importance of final diagnosis by identifying a particular glycosaminoglycan excess in the urine and an enzyme deficiency in the fibroblasts aryl sulphatase B and N-acetylgalactosamine-4-sulphatase.