The grandchildren of patients with pyloric stenosis.
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Biomedical subjects
Publications and source records attributed to K Evans.
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A patient with progressive neurological disease resembling Wilson's disease but in whom Kayser-Fleischer rings were absent, was given 67Cu and 64Cu, orally and intravenously, to measure the rate of absorption of copper using a convolution integral. The data show an abnormal distribution of body copper resulting in low copper concentrations in plasma, urine and liver but with an accumulation in the lower bowel probably due to a defect in mucosal transport. The importance of differentiating this condition from Wilson's disease is stressed.
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Women thought to be at risk of being carriers of Duchenne muscular dystrophy were given "odds" against their having an affected child. These were calcuated from a combination of the genetic risk from the family history and an estimation of the biochemical risk from measuring the serum creatine kinase concentration. The women were told the actual risk estimate and it was put into perspective for them as a high, medium, or low risk. Of 25 women at high risk six have had children, all girls; the two in the medium-risk group have had no children; and the 46 women at low risk have had 19 boys and 25 girls. None of the boys has the disease. With detailed counselling most potential carriers of this disease reach decisions in child bearing that are in line with their degree of risk.
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A sensitive and specific assay for human prolactin has been developed using human prolactin and antiserum distributed by the United States National Pituitary Agency. Plasma prolactin concentrations in control subjects ranged from 0-20 ng/ml. No sex difference in prolactin concentration was observed. A brisk increase in plasma prolactin levels occurred in normal subjects during the administration of chlorpromazine and thyroid stimulating hormone releasing factor (TRH). These stimulatory tests of prolactin release should therefore be useful in the assessment of hypothalamic pituitary function. Basal plasma prolactin values were raised in most patients who were being treated with phenothiazines and were helpful diagnostically in patients with amenorrhoea, galactorrhoea, hypogonadism, cranio-pharyngioma, "non-functioning" pituitary tumours and acromegaly. In many of these disorders a significant reduction in the plasma prolactin concentration was observed following oral administration of bromocriptine. Plasma prolactin determinations should be useful in evaluating the response to medical treatment or pituitary ablation.
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Two oestrogens, stilboestrol and quinestrol, were used to inhibit lactation and their effects upon coagulation and fibrinolysis were compared with control patients before delivery, during the puerperium and six weeks after delivery. During the first week of the puerperium, stilboestrol therapy was associated with rises of factors IX and X and quinestrol therapy with rises of factors IX and II. Six weeks after delivery, the clotting factors were similar to the control values in those who had received stilboestrol but factor II was still raised in the quinestrol treated patients. Additionally, a significant rise of factor X in the quinestrol group was noted at this time. Plasma antithrombin levels rose during the first week of the puerperium in all three groups but, six weeks after delivery, they were lower in those who had received oestrogens. Stilboestrol and quinestrol were also associated with a rise of plasminogen and antiplasmin concentration during the first week of the puerperium. Six weeks after delivery, quinestrol treated patients still had raised levels of plasminogen and antiplasmin while the stilboestrol treated patients only had raised levels of antiplasmin. These changes in coagulation and fibrinolysis are similar to those reported during oral contraceptive therapy. The persisting changes six weeks after delivery in women who had taken quinestrol might indicate an increased thrombogenic risk when long acting oestrogen preparations are used to inhibit lactation.
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