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Biomedical subjects

R J West

Publications and source records attributed to R J West.

83 records · Page 5Linked to original sources
PubMed1975

Familial insulin-resistant diabetes, multiple somatic anomalies, and pineal hyperplasia.

West, R. J., Lloyd, J. K., and Turner, W. M. L. (1975). Archives of Disease in Childhood, 50, 703. Familial insulin-resistant diabetes, multiple somatic anomalies, and pineal hyperplasia. A syndrome comprising unusual facies, dry skin, acanthosis nigricans, thickened nails, hirsutism, dental precocity and dysplasia, abdominal protuberance, and phallic enlargement is described in 2 sibs. Both have developed diabetic ketoacidosis with insulin resistance. The elder child, a girl, had recurrent septic episodes and died at the age of 7-8 years. At necropsy the pineal gland was hyperplastic, weighing 900 mg. Investigation of the younger sib over a 4-year period has shown decreasing glucose tolerance, and he was frankly diabetic with ketoacidosis by the age of 6-8 years. Serum insulin concentrations have always been grossly raised. Though the mechanism for insulin resistance has not been definitely established, a functional abnormality of the hypothalamus or pituitary is postulated to explain the many endocrine features of the syndrome.

Abnormalities, Multiple↗
PubMed1975

The effect of cholestyramine on intestinal absorption.

Cholestyramine in a mean dosage of 0-6 g/kg/day has been given to 18 children with familial hypercholesterolaemia for between one and two and a half years. With prolonged treatment folate deficiency occurred, as evidenced by a fall in the mean serum folate concentration from 7-7 ng/ml before treatment to 4-4 ng/ml for patients on treatment for over one year; a corresponding lowering of red cell folate was also seen. Oral folic acid 5 mg daily overcame this depletion, and should be given to all patients on long-term anion exchange resins. Prothrombin time has remained normal in all patients; there has been a significant decrease in the mean serum concentrations of vitamins A and E and of inorganic phosphorus over the first two years of treatment, although values remain within the normal range. The routine administration of fat-soluble vitamins appears unnecessary but it is prudent to measure prothrombin time and serum vitamins A and E at intervals. In children who were having a normal intake of dietary fat five out of seven tested had faecal fat of over 5 g/day while on cholestyramine. No chold has developed diarrhoea, and growth has been normal. The concentrations of serum iron, vitamin B12, plasma calcium, and protein did not change significantly in any patient.

Animals↗
PubMed1972

Factors in pathogenesis of central-nervous-system leukaemia.

Eighty-three (50%) of 165 children with acute lymphoblastic or acute stem-cell leukaemia presenting during 1958-70 developed leukaemia of the central nervous system (C.N.S.). The rate of incidence of this complication is fairly constant throughout the first two-and-a-half years of the disease, but falls thereafter. The incidence of C.N.S. leukaemia is inversely correlated with the platelet count at the time of initial diagnosis of leukaemia, and directly correlated with the total leucocyte count and the presence of lymph-node enlargement. The major effect of initial leucocyte count is on the time of onset of clinical symptoms. It is suggested that leukaemic cells usually enter the C.N.S. from the blood as a result of intracranial petechial haemorrhage occurring around the time of initial diagnosis of leukaemia, and that the time for subsequent development of symptoms of C.N.S. disease is largely determined by the number and replication rate of leukaemic cells which gain access to the C.N.S. at that time. The increasing frequency of diagnosis of C.N.S. leukaemia in recent years is not wholly explained by increasing survival, and may in part be related to changes in the pattern of antileukaemic therapy.Prophylaxis for C.N.S. leukaemia should be instituted as early as practicable after diagnosis; the identification of a high-risk group may permit this to be done selectively.

Blood Cell Count↗