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Biomedical subjects

A E Emery

Publications and source records attributed to A E Emery.

At least 73 records · Page 4Linked to original sources
PubMed1980

Calcium stimulated enzyme efflux from human skeletal muscle.

Calcium stimulated efflux of four enzymes from human rectus abdominis muscle was studied in vitro. The ratio of efflux of creatine kinase (EC2.7.3.2) increased with increasing calcium concentrations reaching a maximum level with 5mM calcium of 1.9 times that in the absence of calcium. Lactate dehydrogenase (EC 1.1.1.27) efflux at this calcium concentration increased to 2.6 times that in the absence of calcium. However, alanine aminotransferase (EC 2.6.1.2) and aspartate aminotransferase (EC 2.6.1.1) showed a slower increase in the rate of efflux in the presence of 5OmM calcium reaching levels of only 1.3 and 1.5 times respectively that in the absence of calcium. These observations suggest that calcium may be involved in augmenting enzyme efflux from human muscle and may therefore be of relevance in the pathogenesis of Duchenne muscular dystrophy.

Alanine Transaminase↗
PubMed1979

Prospective study of genetic counselling.

A prospective study was carried out on 200 consecutive subjects seen for counselling (consultands) for serious genetic disorders. Educational and social background of consultands and their knowledge and understanding of their particular problem were assessed before counselling, and their response was determined immediately afterwards and three months and two years later by an independent observer not concerned in the genetic counselling. The husband's educational background was particularly important in influencing a couple's comprehension of counselling. X-linked recessive and chromosomal disorders presented the most difficulties in comprehension. The counsellors' assessment of comprehension was a good guide to the consultands' comprehension as assessed at subsequent follow-up. The proportion deterred from having children increased with time and over a third had been sterilised within two years of counselling. It is suggested that follow-up after counselling should be routine, especially when the counsellor suspects that comprehension has not been good, in X-linked recessive and chromosomal disorders, and when the risks of having an affected child are considered to be high.

Adult↗
PubMed1979

Antenatal diagnosis of Duchenne muscular dystrophy.

As a means of assessing the value of fetal serum-creatine-kinase (S.C.K.) levels in the antenatal diagnosis of Duchenne muscular dystrophy (D.M.D.), fetal muscle from control and at-risk fetuses was studied histologically and the findings were related to fetal S.C.K. levels. Of 7 at-risk fetuses 4 were believed to have normal muscle and all these had normal S.C.K. levels. However, of 3 fetuses with abnormal muscle only 1 had a raised S.C.K. level. At present caution should be exercised in offering antenatal diagnosis in D.M.D. on the basis of fetal S.C.K. levels.

Creatine Kinase↗
PubMed1979

A study of possible heterogeneity in Duchenne muscular dystrophy.

One possible explanation for the apparently high birth incidence of Duchenne muscular dystrophy (DMD), a lethal X-linked disorder, is genetic heterogeneity. As a first step in possibly demonstrating genetic heterogeneity, affected boys were sub-divided into those with and without severe mental handicap. In those with severe mental handicap, ages at onset and of becoming confined to a wheelchair were later, the fall in SCK level with age was less marked, and the urinary excretion of certain aminoacids was greater than in affected boys with normal intelligence. Though the number of subjects investigated was relatively small (15 in each group) and further studies are therefore needed, the results suggest that DMD may not be a single disease entity.

Adolescent↗
PubMed1979

Serum LDH-5 in carriers of Duchenne muscular dystrophy.

We failed to confirm the suggestion that serum lactate dehydrogenase isoenzyme 5 (LDH-5) levels are as sensitive an indicator of the carrier status in Duchenne muscular dystrophy (DMD) as are serum levels of creatine kinase. In particular, serum LDH-5 was not increased in carriers when the serum creatine kinase level was normal.

Adolescent↗
PubMed1978

Aryl-hydrocarbon-hydroxylase inducibility in patients with cancer.

Aryl-hydrocarbon-hydroxylase (A.H.H.) inducibility has been studied in the peripheral-blood lymphocytes of patients with squamous-cell lung cancer, of patients with cancer at other sites, and of controls matched for age, sex, social class, and smoking habits. The proportion of high inducers was significantly greater among patients with lung cancer (but not patients with other cancers) than among controls, which suggests that, besides smoking, a constitutional factor may be involved in the pathogenesis of lung cancer.

Adult↗
PubMed1977

Serum pyruvate kinase in carriers of Duochenne muscular dystrophy.

Independent studies by two different groups (Madras and Edinburgh) have failed to confirm the suggestion that measurement of the serum level of pyruvate kinase (EC 2.7.1.40, PK) may be superior to measurement of the serum level of creatine kinase (EC 2.7.3.2, CK) for detecting female carriers of X-linked Duchenne muscular dystrophy (DMD). At present the serum level of creatine kinase remains the best test for this purpose.

Adult↗
PubMed1977

Quantitative histochemistry of the spinal motor neurone nucleus during human fetal development.

A quantitative histochemical study of the developing anterior horn cell nucleus was undertaken. The DNA, the arginine and lysine-rich histones as well as the acidic nuclear proteins of the spinal motor neurone nucleus were estimated during normal fetal development by means of scanning microdensitometry. The arginine-rich histones and the acidic nuclear proteins were found to be increased at the 12-14 week period, a finding which suggests that this period is critical in the differentiation of the spinal motor neurone.

Arginine↗