Biomedical subjects
Publications and source records attributed to E Eggermont.
An XX/XY mosaicism was detected in two phenotypically male newborns with perinatal death, The importance of chromosome studies at the paediatric necropsy and the significance of the present findings are discussed.
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A new chromosome anomaly in acute lymphoblastic leukemia (ALL) is reported. Three, possibly four, patients showed an identical karyotype anomaly, characterized by a (4;11)(q13;q22) reciprocal translocation. This anomaly has not so far been found in lymphoproliferative disorders other than ALL. Two of the patients had congenital leukemia, but the anomaly described appears to be more characteristic of ALL than of congenital leukemia, and may help the clinician in establishing the diagnosis of ALL.
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Gliadin, subsequently treated with pepsin, trypsin and pancreatic extract was further digested by small-intestinal mucosal homogenates from 10 control or 8 coeliac children. The amino acids liberated in the incubation mixture were measured and corrected for mucosal damage. In accordance with the data from the literature on adults, the total amount of amino acids released from gliadin peptides by the intestinal mucosa from children with active coeliac disease is significantly lower than that by the mucosa from control subjects. Qualitatively, however, no significant differences for the individual amino acids are observed with the exception of glutamine and proline, so that damaged coeliac mucosa liberates relatively more glutamine but less proline.
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An otherwise healthy 1 1/2-year-old boy slowly developed a marked enlargement of his right breast during several months. The lesion was soft, round, fluctuant and translucent. Aspiration revealed the presence of a milk-like fluid. Surgical extirpation was performed. Histologically the cyst showed areas of actively secreting acinar mammary cells.
In 11 infants of 3-19 months of age with active gluten-induced enteropathy, an exaggerated and sustained response of plasma TSH to TRH was observed as compared to controls. In these same patients, there was a decrease in total and free T4 and T3 concentrations. All these values were statistically different from controls.
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A new case of glucosephosphate isomerase deficiency in a Belgian family is described. The activity of the enzyme was decreased to about 25-30% of the normal value. Characterization of the defect enzyme showed a decreased thermostability. Heating of the enzyme at 45 degrees C showed a loss of activity of 50% after 90 min. The pH-optimum and the KM-value for fructose 6-phosphate were normal. The electrophoretic pattern showed a faster migration. The variant described here differs from all known variants. Therefore we propose to give to this new variant the name GPI-Kortrijk.
Plasma levels of thyrotrophin before and after the intravenous administration of 200 microgram of thyrotrophin releasing hormone have been studied in eleven patients with active gluten-induced enteropathy and in a group of twenty-one normal prepubertal children. In nine out of eleven coeliac patients an exaggerated and/or sustained response of plasma thyrotrophin is observed. Basal plasma thyrotrophin level is not significantly different from the value observed in normal children. However, plasma levels recorded 20 and 60 min after injection of the releasing hormone are significantly higher than in control children (at 20 min: P less than 0.01; at 60 min: P less than 0.001). Serum levels of dialysed triiodothyronine and thyroxine and of triiodothyronine are significantly lower in coeliac patients than in normal infants (P less than 0.01). These data support the evidence of an endocrine dysfunction in coeliac disease. It is not clear whether it is due to malnutrition and/or to some direct action of circulating gluten-peptides on the hypothalamus.
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The effects of the infusion in four different dosages (0.001, 0.005, 0.02 and 0.2 mg/kg/min during 60 min) of cyclic 3',5'-adenosine monophosphate and of its dibutyryl derivative on plasma growth hormone and on glucose, immunoreactive insulin and cortisol were studied in 38 normal subjects and in 10 patients with idiopathic hypopituitarism. In normal subjects cyclic 3',5'-adenosine monophosphate provokes an increase in plasma growth hormone levels (only when a dosage of 0.2 mg/kg/min is used) without any changes in plasma glucose, insulin and cortisol. The maximal value of the means is observed 75 min after starting the infusion. Dibutyryl cyclic 3',5'-adenosine monophosphate (0.2 and 0.02 mg/kg/min) provokes a dose-related rise in plasma growth hormone levels which is always preceded by hyperglycaemia and hyperinsulinaemia. The peak of the mean growth hormone levels occurs at 135 min after initiation of the infusion. In all but one hypopituitary patients the nucleotides do not promote growth hormone secretion. It is concluded that exogenous cyclic 3',5'-adenosine monophosphate and its dibutyryl derivative may not be considered as analogous and that both compounds may contribute to study growth hormone release in normal subjects and in patients with growth abnormalities.