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Biomedical subjects

J A Edwards

Publications and source records attributed to J A Edwards.

At least 91 records · Page 5Linked to original sources
PubMed1975

Tuberous sclerosis with striking renal involvement in a family.

We describe five cases of tuberous sclerosis in members of one family, all having renal involvement but with differences in age of onset and mode of presentation. Clinical, laboratory, and pathologic features helpful in diagnosing this condition and in distinguishing it from polycystic kidney disease and renal neoplasms are stressed. Tuberous sclerosis should always be considered in differential diagnosis of patients with multiple cystic renal lesions, particularly when age of onset of symptoms ranges from infancy to adult life in different members of one family. Absence both of specific glomerular or tubular lesions in ultrastructure and of major abnormalities in renal tubular function supports the existing concept that replacement of nephrons by hamartomatous lesions is the cause of progressive renal failure.

Adenoma↗
PubMed1975

Mild beta-thalassemia in black subjects.

In two American black families with beta-thalassemia, globin chain synthesis was investigated in vitro. The resultant alpha/beta and alpha/non-alpha labelling ratios were expressed in terms of both specific activity and total counts. In one family, two brothers with clinical presentations compatible with thalassemia intermedia had apparently each inherited two different beta-thalassemia alleles. Thus, they are compound heterozygotes. Their alpha/beta (or alpha/non-alpha) ratios were in the same range as those found in Caucasian subjects with severe Cooley's anemia. In addition, alpha/beta ratios in heterozygotes in this study were the same as those found in Caucasian heterozygotes. A difference in degree of chain imbalance measured by our present method cannot explain the relative lack of severe clinical manifestations of beta-thalassemia in blacks. Further family studies are indicated to discover other genetic or environmental factors modifying the effects of beta-thalassemia.

Adolescent↗
PubMed1975

Red cell iron uptake in hereditary microcytic anemia.

The iron uptake in vitro of red cells from mice with hereditary microcytic anemia (gene symbol mk) was studied to examine the hypothesis of a generalized impairment of cellular iron uptake in this conidition. Reticulocyte-rich red cells from anemic (mk/mk) and acutely bled normal (+/+) mice were incubated in 59Fe-labeled mouse plasma and the radioiron uptake measured. The 59Fe uptake of the mk/mk and +/+ cells was related in the same way to the reticulocyte concentration, the duration of incubation, and the percentage saturation of the plasma iron-binding capacity. However, under the same conditions, the iron uptake of red cells from normal (+/+) mice was greater than that by red cells from anemic (mk/mk) mice. Furthermore, the cellular loss of radioiron on exposure to EDTA was greater for the mk/mk red cells, although the proportion of the radioiron taken up that was incorporated into heme was the same for mk/mk and +/+ red cells. These results support the hypothesis of a generalized impairment of cellular iron uptake in hereditary microcytic anemia and suggest that there might be a defect in red cell receptor sites for transferrin in this condition.

Anemia↗