LYMPHOBLASTIC TRANSFORMATION, CHROMOSOME PATTERN AND DELAYED-TYPE SKIN REACTION IN ATAXIA TELANGIECTASIA

In 6 patients suffering from ataxia telangiectasia morphological evaluation of lymphoblastic transformation was performed; in one of these cases it was repeated four times. In 3 cases the incorporation of ³H-thymidine was measured to examine the degree of the lymphoblastic transformation. Both methods revealed decreased lymphoblastic transformation, though with the last method the decrease was much greater. No correlation was found between the degree of decreased blastic transformation, the infections and the plasma IgA level. Delayed-type skin reactions were subnormal in varying degrees. Increased frequency of chromosome breakage was observed in 1 case–who developed malignancy and died– but no chromosomal aberrations were found in the three other cytogenetically examined patients.     

CHEMO- AND RADIOSENSITIVITY TESTING IN A PATIENT WITH ATAXIA TELANGIECTASIA AND HODGKIN DISEASE

Treatment of Hodgkin disease (HD) in ataxia telangiectasia (AT) patients is hampered by hypersensitivity to radiation and chemotherapy. Most patients die, due to toxicity or, rarely, to progressive disease. The authors report on a 9-year-old girl with stage IIA HD and AT. She was treated with a tailored combined modality approach. No unacceptable toxicity was found, but the girl died of a relapse outside their radiation field. In comparison with fibroblasts of non-AT patients, the fibroblasts of the patient were 3 times as sensitive for radiotherapy but just 1.2 times as sensitive for doxorubicin. A good correlation was shown between in vitro radio- and chemosensitivity testing and the observed clinical toxicity. The authors suggest, therefore, treating AT patients as much as possible according to standard protocols by adjusting the radiotherapy delivery and the chemotherapy regimen to individual doses derived from in vitro radio- and chemosensitivity testing.     

SERUM-INSULIN LEVELS IN CHILDREN DURING GLUCOSE TOLERANCE TESTS

Serum immuno-reactive insulin was measured during glucose tolerance tests carried out in 18 children aged between 5 months and 13 1/4 years. Relatively small increments in serum-insulin were found in many of the younger children.     

TEST-MEAL IN THE DIAGNOSIS OF MALABSORPTION IN INFANCY

A test-meal containing 2 g of glucose per kg body weight (minimum of 20 g), 0.5 g of D-xylose per kg, 8 ml of standardized cream (12% fat) per kg and 7 500 IU of vitamin A palmitate per kg was administered through a nasogastric tube. During the next 10 hours capillary blood samples were obtained and analysed for glucose, D-xylose, triglycerides, and vitamin A using microanalytical methods. The results in 16 normal infants aged 1 to 20 months are reported. The results for all parameters determined, except D-xylose, were comparable to those previously reported using single tolerance tests. The variability related to age was pronounced for glucose, triglycerides and vitamin A. In patients with malabsorption syndromes (cystic fibrosis, extrahepatic biliary atresia, intrahepatic cholestasis, and gluten-induced enteropathy) the results were also comparable with those earlier observed using single tolerance tests. A combined test-meal has certain advantages over the examinations now used in infants with symptoms suggesting a malabsorption syndrome: a series of tolerance tests is avoided, and it is therefore easier to follow the absorption of fat and carbohydrates during the course of a disease and during a therapeutic regimen.     

PLASMA INSULIN AND K VALUES DURING INTRAVENOUS GLUCOSE TOLERANCE TEST IN NEWBORN INFANTS WITH ERYTHROBLASTOSIS FOETALIS

Plasma insulin was determined during i.v. glucose tolerance test (GTT) performed 3 hours after birth in the fasting state in 18 infants with erythroblastosis foetalis (e.f.) and in 11 control infants. Mean fasting plasma insulin concentration as well as the insulin concentration at each time during the i.v. GTT and the disap pearance rate of glucose (K value) were significantly higher in the e.f. infants than in the control group. E.f. infants—as a group—exhibit hyperinsulinism at birth. Between birth weight and fasting insulin concentration and between birth weight and K value significant positive correlations were found. The plasma insulin concentration after the i.v. glucose load showed an even increase, reaching a maximum in 40–60 min in the e.f. group, fundamentally the same pattern that was observed in the normal group, but different from that in infants of diabetic mothers. It is stressed that the hyperinsulinism in e.f. infants is probably of a genesis different from that in infants of diabetic mothers.     

GROWTH HORMONE SECRETION IN PROTEIN ENERGY MALNUTRITION

ABSTRACT. Günöz, H., Neyzi, O., Sencer, E., Molvalilar, S. and Argun, A. (Departments of Pediatrics and Internal Medicine, Istanbul Faculty of Medicine, University of Istanbul, Turkey). Growth hormone secretion in protein energy malnutrition. Acta Paediatr Scand, 70: 521,.–Plasma hGH levels were assessed in 15 infants with protein energy malnutrition following insulin induced hypoglycemia, arginine and L-Dopa provocation tests and intravenous glucose tolerance test. Fasting hGH levels were high in 85.7 % of the cases. An adequate hGH response to stimulation was obtained in only 42.8 % of the cases with insulin induced hypoglycemia; in 52.5 % with arginine; in 30.8 % with L-Dopa. Response to at least one type of provocation was obtained in all 5 cases to which all three tests were applied. Exaggerated or delayed response to provocative stimuli was also encountered in a number of the cases. Intravenous glucose tolerance test did not lead to suppression in hGH secretion or to increase in insulin secretion in these subjects. The results indicate that marasmic protein energy malnutrition may lead to defects in the hGH secretory function of the hypothalamopituitary axis.