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Biomedical subjects

A C Clark

Publications and source records attributed to A C Clark.

30 records · Page 2Linked to original sources

Triose phosphate isomerase deficiency: report of a family.

Triose phosphate isomerase (TPI) deficiency is associated with a syndrome of congenital non-spherocytic haemolytic anaemia, mental subnormality, motor impairment, growth failure and cardiac failure. The deficiency state is characterized by moderately reduced red cell TPI activity, and marked instability of the abnormal enzyme to heat. The clinical features of an affected child are described, and some problems in the laboratory diagnosis delineated.

Carbohydrate Epimerases↗

Triose phosphate isomerase deficiency: prenatal diagnosis.

A child with triose phosphate isomerase deficiency has congenital nonspherocytic hemolytic anemia, mental subnormality, motor impairment, growth failure, and cardiac failure. The deficiency state is characterized by moderately reduced red cell triose phosphate isomerase activity and marked instability of the abnormal enzyme to heat. The stability characteristics of triose phosphate isomerase in cultured fibroblasts define the homozygous and heterozygous states with sufficient precision to allow prenatal diagnosis of the disorder. Successful prenatal identification of a heterozygote and an unaffected fetus in utero is described.

Amniocentesis↗

Bone loss during oestriol therapy in postmenopausal women.

In contrast to all other oestrogens examined thus far oestriol hemisuccinate (12 mg/day) did not prevent bone loss in 28 postmenopausal women. The average bone loss, however, was somewhat less than expected from placebo studies, while the bone loss achieved by a group taking 4-6 mg/day was equal to that achieved by previous placebo groups. To be an effective agent for prevention of post-menopausal osteoporosis oestriol would have to be prescribed in daily doses considerably in excess of 12 mg.

Adult↗

Bone response to termination of oestrogen treatment.

Forty-three oophorectomised patients were reviewed 8 years after their initial attendance at a research clinic investigating the aetiology and prevention of postmenopausal osteoporosis. Fifteen patients who had been treated with an oestrogen did not lose a significant amount of bone during the 8 years of therapy. Patients in the placebo-treated control group initially had bone loss of 2.6% per annum, which later fell to an average of 0.75% per annum. Fourteen patients who had been treated with oestrogen for the first 4 years lost no bone, but on withdrawal of oestrogen their bone mineral content fell over the next 4 years at an average rate of 2.5% per annum. 8 years after their initial attendance there was no significant difference between this group and patients who had received placebo for the full 8 years. The result of this study indicates that long-term prevention of bone loss by oestrogens has important medical, social, economic implications.

Bone and Bones↗