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Call number: LD2668 .T4 1944 K6 / Master of Science

No description available.

No description available.

No description available.

No description available.

Call number: LD2668 .T4 1951 W58 / Master of Science

ABSTRACT Pyruvate kinase is an essential enzyme in the anaerobic glycolytic pathway of the erythrocyte. The clinical presentation of this enzyme deficiency is due to the haemolytic process that results from the inability of erythrocytes to generate sufficient ATP. Although pyruvate kinase and glucose-6-phosphate dehydrogenase deficiencies comprise more than 90% of all reported red cell enzyme disorders worldwide, the epidemiology of the disease in South Africa is unknown and there is no assay for pyruvate kinase activity currently being used in South Africa. This report describes the implementation of screening and quantitative assays for pyruvate kinase activity in the Red Cell Membrane Unit at the University of the Witwatersrand Medical School / NHLS. The accuracy, precision and reproducibility of the assay were verified. Furthermore, a patient with pyruvate kinase deficiency was confirmed and found to have 15% of normal enzyme activity at 37oC. The genetic abnormality was identified as a homozygous G1529A point mutation in exon 11 of the pyruvate kinase gene and to the candidate’s knowledge is the first mutation described in a South African kindred. The patient’s mother was heterozygous for the G1529A mutation and demonstrated an enzyme activity of 58% of normal at 37oC.

This study assessed aspects of targeting of the PEM scheme in Gauteng province. This food supplementation scheme targets beneficiaries including children 0-6 years, using largely anthropometric criteria. Routine provincial intervention data was analysed and related to available data cm expenditure, population and indices of socio-economic need. Only 28% were children in the critical 7-36 month age group; and coverage was very low, with no correlation between indices of need and programme implementation by area. An exit interview to a sample of caretakers of 0-6 year old children in four clinics (two Local Authority, two provincial) examined the process of identification of beneficiaries. Low attendance by children over 1 year and 40% errors in growth monitoring, more frequent among sick children, effectively reduced screening coverage among the most at-risk. Health worker misclassification resulted in an 81% exclusion error among those meeting entry criteria, while 4% of the total were wrongly enrolled. Advice and nutrition promotion to caregivers was inadequate. Recommendations include service re-organisation, community-based initiatives and better monitoring.

Thesis (M.Sc.D.)--Boston University School of Graduate Dentistry, May 20, 1966. / Bibliography included.