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Biomedical subjects

A T Rundle

Publications and source records attributed to A T Rundle.

At least 19 recordsLinked to original sources
PubMed1977

Serum cholinesterase (pseudocholinesterase) in Down's syndrome: 1. Phenotype frequencies at the E1 and E2 loci.

Dibucaine, fluoride and RO2-0683 inhibition studies were used to determine the serum cholinesterase (pseudocholinesterase) phenotypes at the E1 locus in a sample of 130 subject with Down's syndrome and fifty-three mentally retarded control subjects. No example of the Ef1 and Es1 allele was detected in either group, nor were any of the genotype E1a E1a detected. The gene frequency of E1a for the control group (0.0189) resembles closely that reported in the literature for normal European populations but in the Down's group was significantly lower (0.0038). The means and distribution of the dibucaine, fluoride and RO numbers in both groups were similar to those reported in normal subjects. The presence of the additional C5 cholinesterase type heterozygous for a variant cholinesterase on the E2 locus) was detected after starch gel electrophoresis, and the frequency was found to be raised in both groups. Several possible environmental factors (age, sex, maternal age, etc.) were investigated to account for this finding but with no success.

Adult↗
PubMed1977

Serum cholinesterase (pseudocholinesterase) in Down's syndrome: 2. Quantitative levels.

The observation elsewhere (Drew and Rundle, 1977) that increase frequencies of the C5 + variant of the serum cholinesterase in Down's syndrome may be due to a protective influence against adverse environmental factors has been investigated for such factors as age, sex, duration of institutionalisation, presence of the hepatitis -B antigen and maternal age. With the exception of the maternal age none of the factors tested appear to affect the circulating levels of cholinesterase. A maternal age effect in the Down's subjects was detected with lower levels of the enzyme being found in the subject positive for the C5 + variant born to mothers over thirty-five years when compared to the C5 + subjects born to mothers under thirty-five years. Further studies confirmed the presence of a relationship between maternal age, serum cholinesterase levels and haptoglobin phenotypes.

Adult↗
PubMed1976

Serum alpha2-macroglobulin levels in tuberose sclerosis.

The serum levels of alpha2-macroglobulin (alpha2-MG) were determined by radial diffusion if fifty-four cases with tuberose sclerosis and compared with forty-seven institutionalised control subjects of similar age and sex distribution. Although higher levels of alpha2-MG were found in the females of both groups when compared with the males, this increase was not significant. The tuberose sclerosis subjects showed consistently elevated levels of alpha2-MG when compared to the control group for both the males and females separately and combined. With the two sexes combined this elevation was significant at p less than 0.001. The significance of this observation has been discussed both from the point of view of the possible mechanism involved and the use of this estimation in genetical counselling.

Adolescent↗
PubMed1976

Plasma acute-phase reactant proteins in tuberose sclerosis.

The quantitative levels of seven of the acute-phase reactant proteins were measured in the plasma of a sample of fifty-four adults all diagnosed as suffering from tuberose sclerosis and compared to that derived from a group of control subjects resident in a hospital for the mentally subnormal. Abnormal levels were found in one or more of the proteins in all but thirteen cases, with no fewer than twenty-six subject (forty-eight per cent) showing results outside the 2SD limits in three or more of the parameters investigated. Only in the alpha1-antitrypsin and fibrinogen were the means not significantly different from the control means but even in these two proteins ten and seven cases respectively individually exceeded the normal mean by more than 2SD. It is suggested that these observations can be explained as the normal response to the presence of neoplastic tissue, and the routine investigation of these and other biochemical components known to respond to the presence of neoplastic tissue may be of help in genetic counselling.

Adolescent↗
PubMed1975

Serum and tissure proteins in tuberous sclerosis. II. Immunoglobulin levels.

Serum levels of the four main immunoglobulins, IgA, IgM, IgG and IgD were estimated in a sample of 54 subjects with tuberous sclerosis and the data compared with similar findings in a sample of 100 mentally retarded subjects chosen at random. Normal levels of IgA and IgD were found in the T.S. group, but elevated levels of IgM significant at P equals 0.001 was found in 49 of the 54 cases. A reduction in IgG levels (significant at P equals 0.001) was a much less constant feature being found in 29 of the 54 subjects. The significance of these results in the light of the observation that one of the principal causes of death in T.S. is from recurrent infection is discussed.

Adult↗
PubMed1975

Serum and tissue proteins in tuberous sclerosis. I. Serum and red-cell polymorphic systems.

5 serum protein polymorphic systems (haptoglobin, alkaline phosphatase, group-specific (Gc) proteins, beta2-glycoprotein 1 and leucine aminopeptidase) and 6 red-cell polymorphisms (adenosine deaminase, adenylate kinase, phosphoglucomutase, glutamic-pyruvic transaminase, phosphogluconate dehydrogenase and acid phosphatase) have been investigated in 54 subjects with tuberous sclerosis. The frequencies of all systems were compared with those of a control sample drawn from a similar mentally retarded population and abnormal distributions were detected in the haptoglobin and Gc system. Quantitative estimation of the serum levels of the Gc protein failed to detect any inter-group differences. Data on the deviations from the Hardy-Weinberg equlibrium, Haldane's Log ratio test between groups, and gene frequencies of both test and control groups are given. It is suggested that selection by mortality is the possible causation for the abnormal distribution of the Gc phenotypes, but the haptoglobin phenotype distribution requires further investigation with care being taken in the selection of control subjects.

Acid Phosphatase↗
PubMed1975

Hepatitis associated antigen and the ABO locus in Down's syndrome.

The recent observation by Arndt-Hansen et al. (1974) of increased frequency of blood group A over group O in blood donors positive for the hepatitis associated antigen has been investigated in Down's syndrome, in order to establish if this could account for the increased frequency of the antigen in that syndrome. Seventy-one of 227 subjects with Down's syndrome (31.3%) were found to be positive for the antigen by haemagglutination, and comparison of these with the HAA-subjects failed to reveal any differences in the ABO blood groups.

ABO Blood-Group System↗