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Biomedical subjects

A E Emery

Publications and source records attributed to A E Emery.

At least 55 records · Page 3Linked to original sources
PubMed1982

Prenatal diagnosis of Duchenne muscular dystrophy: failure of amniotic fluid and maternal serum N tau-methylhistidine analyses to detect affected fetuses.

N tau-Methylhistidine (MH) and creatinine levels were determined in amniotic fluid and maternal serum from 81 women undergoing midtrimester amniocentesis for reasons other than the diagnosis of neuromuscular disease. Samples were also examined in three pregnancies with male fetuses who were subsequently found to have Duchenne muscular dystrophy (DMD). Between 16 and 20 weeks' gestation, amniotic fluid and maternal serum MH levels averaged 3.22 and 1.94 mumoles/L, respectively. No significant differences were found between the control and affected fetuses for MH and creatinine levels or for MH/creatinine ratios from amniotic fluid or maternal serum. Determination of amniotic fluid MH level thus has no apparent value in the prenatal diagnosis of DMD.

Amniotic Fluid↗
PubMed1982

Feasibility of neonatal screening for Duchenne muscular dystrophy.

During the period November 1976 to September 1980, 2703 babies born in one Edinburgh hospital were screened in the neonatal period by estimation of their serum creatine kinase levels for Duchenne muscular dystrophy. Among the 2336 male babies tested, none proved to be affected and only 16 required second specimens to be obtained. Overall the false positive rate in the study was 0.78%. This study confirms that neonatal screening for Duchenne muscular dystrophy is feasible in a British hospital setting and is here most conveniently carried out on the 5th day of life along with routine testing for phenylketonuria.

Creatine Kinase↗
PubMed1982

Apparent enhanced response to the induction of sister chromatid exchange by mitomycin C in myotonic dystrophy.

The spontaneous and mitomycin C (MMC) induced sister chromatid exchange (SCE) frequencies were examined in five adults with myotonic dystrophy (MD). There was no significant difference in the spontaneous incidence of SCE between MD patients and controls. However, a significantly enhanced response to the induction of SCE by MMC was observed in three of the five MD patients who were severely affected, while no such enhancement was observed in the other two mildly affected cases. These results suggest that the raised response may be a secondary consequence associated with disease progression. No differences were observed between the proliferating rate in vitro of lymphocytes of severe and mild cases of MD and controls, but the severe cases showed a significant increase in the proportion of T cells in peripheral blood. It is suggested that the observed enhanced response to MMC may reflect an increase in the proportion of a more sensitive subset of T cells in the peripheral blood.

Adult↗
PubMed1982

A family study of Charcot-Marie-Tooth disease.

Forty-seven cases of Charcot-Marie-Tooth peripheral neuropathy were seen in 18 families within a defined area, with a disease prevalence of 1 in 16 400. Maximum motor nerve conduction velocity (MNCV) measurement divided off two types of neuropathy (MNCV less than 30 ms-1 and greater than 40 ms-1), but did not distinguish clinically affected from normal in families whose probands had median nerve MNCV greater than 40 ms-1. In the neuronal type of neuropathy ((MNCV greater than 40 ms-1) two genotypes were seen, autosomal dominant (ADN) and autosomal recessive (ARN). Most cases with the demyelinating type (MNCV less than 30 ms-1) had an autosomal dominant genotype (ADD) but one family had possible X linked recessive inheritance (XRD). In one autosomal dominant family a father and son had different electrophysiological types of neuropathy. Peroneal muscle weakness was progressive with age in the ADD genotype and certain patterns of phenotypic features were associated with the major genotypes. Age of onset was not found to be reliable in distinguishing genotypes. Care is needed when counselling isolated male cases because of asymptomatic affected females in the autosomal dominant genotypes, and the possibility of ill defined X linked forms.

Adolescent↗
PubMed1982

Verapamil and calcium-stimulated enzyme efflux from skeletal muscle.

An early and significant biochemical abnormality in Duchenne's muscular dystrophy is an increase in intracellular calcium. We have found that the "calcium-blocker" drug verapamil inhibits calcium-stimulated efflux of creatine kinase (EC 2.7.3.2) and lactate dehydrogenase (EC 1.1.1.27) in vitro from normal human skeletal muscle at therapeutic concentrations. Such a calcium blocker might therefore be useful in the treatment of Duchenne's muscular dystrophy.

Calcium↗
PubMed1981

Erythrocyte spectrin in Duchenne muscular dystrophy.

The primary structure of erythrocyte spectrin bands I and II from controls and patients with Duchenne muscular dystrophy was compared by 2-dimensional peptide mapping. 125I-labelling was done either by the chloramine-T method or using the Bolton and Hunter reagent followed by treatment with trypsin or chymotrypsin, resulting in four different peptide maps from each band of spectrin. Although all the peptide maps of band I were considerably different to those of band II, there were no consistent differences in the maps of bands I and II from controls compared to the corresponding maps from patients with Duchenne muscular dystrophy.

Chymotrypsin↗
PubMed1981

A possible circulating plasma factor in Duchenne muscular dystrophy.

Basal (Na+, K+)AtPase activity was found to be significantly reduced in erythrocyte ghosts from patients with Duchenne muscular dystrophy, and, whereas ouabain inhibited enzyme activity in controls, it stimulated activity in patients. Prior incubation of normal erythrocyte ghosts in Duchenne plasma resulted in an increase in enzyme activity on subsequent exposure to ouabain. This suggests there may be a "circulating plasma factor" in Duchenne muscular dystrophy responsible for the abnormal response to ouabain. This "factor" was rendered inactive by dialysis or deproteination of the plasma.

Blood Proteins↗
PubMed1981

Genes for super-intelligence?

The results of a postal questionnaire distributed to British members of Mensa failed to confirm an association of superior intelligence with torsion dystonia, retinoblastoma, or phenylketonuria, but were consistent with real associations between high IQ and infantile autism, gout, and myopia. Further confirmation of these findings in other populations might well indicate that genes producing these disorders have more or less direct effects on cerebral development and function.

Adult↗
PubMed1980

Intracellular calcium and pathogenesis and antenatal diagnosis of Duchenne muscular dystrophy.

One of the earliest and most important abnormalities of fetal muscle in Duchenne muscular dystrophy is an increase in eosinophilic fibres (those that stain darkly with eosin). A study of normal and at-risk male fetuses after abortion was carried out, which showed that these eosinophilic fibres contain increased intracellular calcium, which suggests that this is an early biochemical change in the disorder. Since increased intracellular calcium would account for various biochemical and clinical features of the disease, it may be related to the primary defect. Thus an increase in muscle fibres containing increased intracellular calcium in at-risk fetuses may provide an additional means of assessing the validity of any future presumptive antenatal test for Duchenne muscular dystrophy.

Calcium↗
PubMed1980

Human lymphocyte capping in Duchenne muscular dystrophy.

We have confirmed the observation that, in patients with Duchenne muscular dystrophy, there is a significant reduction in lymphocyte capping. However, our results indicated that this may be related to the degree of muscle damage in these boys, since it was correlated to both age and serum creatine kinase activity and could therefore be a secondary phenomenon.

Adolescent↗