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Biomedical subjects

J Op't Hof

Publications and source records attributed to J Op't Hof.

At least 37 records · Page 2Linked to original sources
PubMed1983

Genetic services in the State Health Department of the RSA. Development and structure.

Most developing countries have genetic counselling services. Although research and expertise in human genetics have reached unprecedented heights, health authorities have only recently acknowledged the practical application and economic value of genetic services in community health care. The development of community-based genetic services in the RSA since 1971 and the current organization and structure of the services in the State Health Department are described.

Genetic Counseling↗
PubMed1983

Screening for inborn errors of metabolism among mentally retarded patients. Outcome of a surgery at the Witrand Care and Rehabilitation Centre.

The prevalence of different types of inborn errors of metabolism among the mentally retarded patients at the Witrand Care and Rehabilitation Centre, were determined by means of a biochemical screening survey. These results are compared with those of other surveys in South Africa and abroad. One important result points to substantial differences in the recorded incidences of metabolic defects between surveys. This observation could partially be due to significant differences between the different studies in terms of methodology employed and sampling procedures. The questions raised in this regard are documented and discussed.

Adolescent↗
PubMed1983

Genetic services for patients with severe mental retardation. The South African situation.

In South Africa mental retardation is still ill-defined as regards the aetiology and general epidemiology. A systematic diagnostic/genetics programme implemented at various institutions for the mentally retarded within the framework of a comprehensive genetic service is described. The progress made is reported and the contribution of genetic services to the prevention and the management of mental retardation highlighted.

Adolescent↗
PubMed1982

Cytogenetic abnormalities including the marker X chromosome in patients with severe mental retardation.

Cytogenetic investigations of mentally retarded patients at the care and rehabilitation centres of the Department of Health and Welfare and at special schools have been in progress since 1972. A total of 2533 cytogenetic investigations have been carried out. A chromosomal abnormality was found in 20,6% of individuals investigated. Next to Down syndrome the Martin-Bell syndrome with the marker X chromosome occurred most frequently. This syndrome is found in the White, Black, Indian and Coloured population groups. In 15 families that have been identified, 56 males and 35 females (carriers) have the marker X chromosome. The importance and role of diagnostic/genetic investigations in mentally retarded individuals is outlined.

Chromosome Aberrations↗
PubMed1982

Communication in genetic counselling.

The importance of genetic counselling is being emphasized to an increasing degree, especially in view of advancements in the field of prenatal diagnosis and in methods of practical primary prevention. Genetic counselling is a process allowing specific information to be made available to clients in a specific manner. It only recently became apparent that knowledge about the process of the transmission of information in genetic counselling was inadequate and that re-evaluation was necessary. In genetic counselling communication is characterized by a distinctive type of psychodynamics in which philosophical, ethical and social factors and interrelations feature. An outline of the components of the communication process is provided. A model for the genetic counsellor's role in the comprehensive genetics team is suggested, and problem areas in the communication process are discussed.

Communication↗
PubMed1982

Biochemical polymorphisms in South African freshwater fish. Isoenzyme patterns in fish of the families Cyprinidae and Salmonidae.

Isoenzyme patterns were studied in local populations of the carp (Cyprinus carpio) and the bream (Sarotherodon mossambicus) of the Cyprinid family, and in the trout (Salmo giardneri) of the family Salmonidae. Homogenates of heart muscle extracts were used in the identification of PGI, NADP-IDH, PGM and 6-PGD. Polymorphisms found and gene frequencies obtained are discussed separately for each enzyme and species or population. In the bream, variation was found only at the PGI locus. In the carp only the PGM locus was polymorphic whereas both PGM and IDH showed variation in the trout. The variation at the PGM locus in the trout cannot support the three locus model suggested elsewhere and clearly indicates a single locus for the monomeric enzyme. The large variety of NADP-IDH types in trout not only illucidates the complexity of this locus but confirms a disomic mode of inheritance. Genetic differences in the trout populations could be related to possible advantages for management purposes.

Animals↗
PubMed1981

The Child Referral Centre in Pretoria.

Two main reasons gave rise to the establishment of the Child Referral Centre (CRC) in Pretoria: (i) the particular post-genetic counselling needs of individuals and families suffering from inherited and congenital disorders; and (ii) the general need of parents to know what facility is available for dealing with a suspected disorder or known handicap of their child - usually at the preschool stage. The CRC has been in operation since 1978 and statistics of the service rendered are provided. A feature of the CRC is the administrative procedure which ensures that referral is successful and effective.

Child↗
PubMed1981

A marker X chromosome associated with nonspecific male mental retardation. The first South African cases.

This report describes the first cases of X-linked mental retardation with a marker X chromosome seen in South Africa, and forms part of an ongoing study. The marker was found in 11 affected males and 1 carrier female in 4 families investigated. The demonstration of the marker X chromosome characterized by a fragile site at the long arm (fra(X) (q27) in association with nonspecific X-linked mental retardation heralds a new era in cytogenetics. The attention of human geneticists everywhere is focused on various aspects of this fascinating phenomenon. It has now become possible to diagnose an apparently common familial cytogenetic condition with a high risk of recurrence and to identify female carriers; perhaps in time we will be able to provide prenatal diagnosis. Because of the familial involvement through X-linked inheritance the syndrome is believed to be more common than trisomy 21. The nature of the association of mental retardation with the marker X chromosome is unknown, but it could be related to close linkage with abnormal gene(s) or due to faulty transcription of the genes beyond the fragile site.

Adult↗
PubMed1978

Genetic and congenital disorders. Knowledge and attitudes of the public, nurses and medical practitioners in South Africa.

Knowledge and attitude studies with regard to genetic and congenital disorders were carried out on White women (2 500), nurses (826) and doctors (61). The studies indicated the need for public education and improved medical and paramedical training in human genetics. Education and training in human genetics. Education and training programmes should highlight the theoretical background, practical applications and available facilities.

Adult↗