A longitudinal study of phenylketonuria based on the data of the Budapest Screening Center.

Between 1975 and 1994 about 1.5 million neonates were screened by Guthrie tests at the phenylketonuria (PKU) Centre in Budapest. In this period 160 children with PKU were found. The corresponding incidence rate is about 1:9000. In a cumulative longitudinal design we investigated 56 patients with classical PKU between the ages of 3 months and 20.5 years. Treatment started at a mean age of 16.9 days (SD = 8.8). On average, pretreatment phenylalanine (Phe) levels were 1956 mumol/l (SD = 864), measured with the fluorometric method. Their Phe levels, physical growth, intellectual development, and performances in achievement tests were analysed. For the entire sample 45% of half year median Phe levels were in the recommended range, 33% represented poor dietary control, 22% were classified as intermediate. Physical growth was not significantly different from the Hungarian average. Mean verbal as well as nonverbal IQs were in the middle of the normal range. For an extended sample of 131 patients not followed longitudinally, mean recent IQ was 99.6 (SD = 16.3). Data concerning educational career were available for 107 patients. Normal schools were attended by 88 patients, 19 were in need of special elementary education. From 40 patients who had already finished elementary school, 17 underwent secondary school education, 1 is a university student, 15 are skilled workers, 4 were semi-skilled, and 4 are unemployed for reasons unrelated to their intellectual status.

[Evaluation of hearing loss by means of inner ear acoustic emission in neonates treated with aminoglycoside]. / Halláskárosodás megítélése a belsö fül hangenergia kibocsátásának segítségével aminoglikoziddal kezelt újszülöttekben.

Despite their ototoxic and other side effects, aminoglycosides are still widely used in the treatment of neonatal infections. A novel method for evaluation of hearing loss is distortion product otoacoustic emission (DPOAE). Physiologic acoustic energy-emission produced by sound stimulus in the inner ear is detected by DPOAE. Existing acoustic emission indicates the functional integrity of the inner ear. DPOAE was performed in 19 newborns treated with netilmicin for different infections. Serum netilmicin levels did not exceed 12 mg/l; renal functions were normal. Existence of emission was detected in 15 newborns. There was no emission found in 4 newborns unilaterally, which was fully restored in 2 months. In conclusion, aminoglycosides have no considerable ototoxic side effects. DPOAE is thought to be an objective, fast, and non-invasive method for hearing screening in the newborn period.

Simple method for the measurement of antioxidants.

Washed red blood cells from preserved blood were used to elaborate a method suitable for the examination of red blood cell deformability and for the detection of changes in oxidative stress, i.e. for the determination of lipid peroxidation and antioxidant enzyme activity changes. The oxidative stress was induced by treatment of red blood cells with hydrogen peroxide.

Red blood cell electrolyte changes in patients with juvenile diabetes mellitus.

The sodium and potassium concentrations of the red blood cells and the serum were investigated in 21 children with diabetes mellitus. Measurements were made prior to and 1 and 2 hours following insulin administration. Before insulin treatment, the sodium level in the red blood cells of the diabetes patients was significantly higher that the control level, while the potassium level was significantly depressed. These differences were not observed 1 and 2 hours following insulin administration. Attention is drawn to the rapid and extensive electrolyte changes in the red blood cells of diabetics in response to insulin. The potassium content of the serum of the diabetics was significantly decreased by insulin administration. No correlation was found between the electrolyte levels and the fasting blood glucose levels. A weak negative correlation (p less than 0.02) was observed between the potassium content of the red blood cells and the duration of the illness. The pathogenetic, diagnostic and therapeutic implications of the results are discussed.

Peroxide haemolysis of erythrocytes in children with diabetes mellitus.

Peroxide haemolysis of erythrocytes in children with diabetes mellitus was discussed. The peroxide haemolysis tests of erythrocytes of 32 healthy and 35 diabetic children were compared. The erythrocytes of diabetics were hemolyzed to a small extent when 2% H2O2 was used. If 5 and 10 mmol/l glucose were added, the peroxide haemolysis of the controls decreased but that of the diabetics did not change. The results of the examinations performed with pH 6.8 were compared to those of pH 7.4 and both in the diabetics and controls a slight haemolysis was observed.

Comparative study of antioxidant enzymes and lipid peroxidation in cord and maternal red blood cells.

The activities of the antioxidant enzymes and lipid peroxidation were compared in the red blood cells from the blood of 50 mothers and the umbilical cord of 50 full-term healthy neonates. The antioxidant activities (except that of catalase) and the lipid peroxidation were found to be higher in the cord blood. These observations differed from the previous literature data: a parallel could be found only with the concept (connected with oxygen radicals) of the early closure of the ductus arteriosus.

[Isotope study of in vitro K(+) uptake and release of erythrocytes in juvenile diabetes with 86Rb]. / Isotopische Untersuchung der in vitro-K(+)-Aufnahme und -Abgabe der Erythrozyten beim juvenilen Diabetes mit 86Rb.

In order to determine the reasons for a previously observed elevated intracellular Na+ and a decreased K+ level, the K+ uptake and release of the red blood cells in type I diabetics were examined with 86Rb. The K+ release and the ouabain-insensitive K+ uptake were different from those in the controls. Under the present experimental conditions, there was no decrease in ouabain-sensitive K+ uptake indicative of the activity of K+, Na(+)-ATPase. Likewise, an elevated activity normalizing a lower K+ level could not be detected. Further, there were no significant differences in the reaction kinetic parameters: KM[diab.]:4.21 +/- 1.38 mM/l, KM[contr.]:4.14 +/- 0.99 mM/l Vmax[diab.]:2259 +/- 326 nmol/ml red blood cell/hour Vmax[contr.]:2354 +/- 462 nmol/ml red blood cell/hour. These alterations are regarded as partial phenomena of the complex membrane function disturbances in diabetic red blood cells.

The effects of Oradexone and Ambroxol pretreatment of the oxidative sensitivity of the red blood cells in preterm infants.

The antioxidant enzyme activities and lipid peroxidation in the red blood cells of cord blood were investigated and compared at different gestation times in preterm and full-term neonates, with and without pretreatment of the pregnant mothers with Oradexone (Dexamethasone) or Ambroxol. Administration of the two drugs not only stimulated the lung surfactant system, but also exerted favourable effects on the antioxidant enzyme activities while the lipid peroxidation was decreased.

Comparison of antioxidant red blood cell enzymes in premature and full-term neonates.

Earlier investigations extended exclusively to comparisons of the red blood cells (RBC) Cu,Zn-superoxide dismutase in neonates of various ages. We have now carried out comparative measurements on the activities of RBC catalase and glutathione peroxidase from the same source. Besides the enzymes, we also measured the lipid peroxidation (LP). The differences between the RBC of premature and full-term neonates were found to be significant. The lower antioxidant enzymatic activity and LP level in premature infants are explained by the immaturity of the biochemical systems and the different lipid composition of the RBC membranes.

Riboflavin (vitamin B2) treatment of neonatal pathological jaundice.

The effect of traditional blue-light and riboflavin combined with blue-light was compared in newborns affected by ABO incompatibility, admitted for exchange transfusion. During the period of preparation for the intervention 14 patients were treated with blue light alone and 14 patients with riboflavin combined with phototherapy. A single dose of 10 mg/kg riboflavin was administered intravenously. The duration of treatment was three hours in both groups. The effect of phototherapy was markedly enhanced by the additional riboflavin, by the end of the 3-hour period a significant fall of serum bilirubin was demonstrated in the 14 patients treated with blue light and riboflavin while in the patients treated with phototherapy alone the bilirubin level continued to rise. There was no difference in the activity of the antioxidant enzymes superoxide dismutase and catalase, and in lipid peroxidation between the groups.