Erdem G

Factor V Q 506 mutation in children with thrombosis

The factor V Leiden mutation in 12 children with thrombosis and in 20 controls was investigated. Five heterozygous individuals and 1 homozygous individual among the cases with thrombosis and 1 heterozygous individual among controls were found. Central nervous system thromboses were increased in children with the factor V mutation, associated with protein S deficiency.

Long-term follow-up of indirect hyperbilirubinemia in full-term Turkish infants.

Objective: This retrospective follow‐up study was performed to evaluate the suitability of the recently reported exchange transfusion limits (serum indirect bilirubin level of 428‐496 μmol/1, 25‐29 mg/dl) for Turkey. Material and methods: The study groups totalled 102 children, 8‐13 years of age, who had been born at term with birthweights greater than 3000 g and had been treated for indirect hyperbilirubinemia during their newborn period; the control group consisted of 27 children of the same age‐group without indirect hyperbilirubinemia. Children were grouped according to their maximum serum indirect bilirubin levels and direct Coombs’test results. Physical and neurological examinations, visual and brainstem auditory evoked potentials and the Wechsler Intelligence Scale for Children—Revised for Turkish Children were performed. Results: There was no difference between the groups with regard to mean visual and brainstem auditory evoked potential latencies. Children whose direct Coombs’tests were positive had significantly lower IQ scores and more prominent neurological abnormalities (p < 0.05). IQ scores and prominent neurological abnormalities did not differ among the other groups. Nine children had prominent neurological abnormalities associated with abnormal brainstem auditory evoked potentials. An important risk factor was the duration that the infants serum indirect bilirubin level remained greater than 342 μmol/1 (20 mg/dl). Conclusion: The current limit of 342 μmol/1 should continue to be used for infants whose direct Coombs’tests are positive in our country. Until better criteria for exchange transfusion other than the indirect bilirubin level are established, the current limits should also still be followed for infants whose direct Coombs’tests are negative in Turkey, where regular neonatal follow‐up examinations are not satisfactory.

A case of Pearson syndrome associated with multiple renal cysts.

A 41-day-old infant who had severe metabolic acidosis, anemia, bleeding, hypoglycemia, and proximal tubulopathy was diagnosed with Pearson syndrome. Fibrosis in the liver, severe iron deposition in hepatocytes, and multiple renal cortical cysts were found on postmortem examination. Southern blot analysis of mitochondrial DNA obtained from peripheral blood revealed a heteroplasmic deletion of approximately 3.5 kilobases.

Serum malondialdehyde concentration in babies with hyperbilirubinaemia

AIM To determine lipid peroxide concentrations in the first 10 days of life. METHODS Malondialdehyde concentrations were investigated in neonates with or without hyperbilirubinaemia during the first 10 days of life. RESULTS Serum malondialdehyde concentrations were higher in infants with hyperbilirubinaemia than in controls. A positive correlation was found between malondialdehyde and bilirubin concentrations in the study group. When the study group was categorised according to the presence of haemolysis, a significant correlation was found between malondialdehyde and bilirubin concentrations in those infants with hyperbilirubinaemia due to haemolysis. There was no such correlation in those without haemolysis. CONCLUSION Exchange transfusion rapidly produces variable changes in pro-oxidant and antioxidant plasma concentrations in neonates, which may be responsible for free radical metabolism. The fall in malondialdehyde concentration is probably directly related to its exogenous removal by exchange transfusion.

Incidence of phenylketonuria and hyperphenylalaninaemia in a sample of the Turkish newborn population

The incidence of hereditary aminoacidopathies has been determined and nationwide programmes focussed on the most common diseases have been set up in the USA and most of the European countries. Specifically, the programme for phenylketonuria (PKU, McKusick 26160) has been successful and has served as a model for the detection and preventive treatment of genetic diseases.

Neonatal PKU screening in Turkey: 7 years experience in a developing country

Abstract Introduction: This report describes the system of neonatal screening for phenylketonuria (PKU) that has been developed in Turkey and the results of screening. Methods: A total of 576 122 newborns born in maternity hospitals in metropolitan districts of the cities were screened using the Guthrie bacterial inhibition test. Classification of PKU or non-PKU hyperphenylalaninemia was determined by the confirmatory serum phenylalanine level and/or subsequent protein loading test. Results: One hundred and forty-two cases with persistent hyperphenylalaninemia were detected (1:4500). In 96 of these cases confirmatory tests were found to be compatible with PKU (1:6000) and the remaining 46 cases had either mild or moderate hyperphenylalaninemia. In one patient, the hyperphenylalaninemia was secondary to a pterin defect (dihydropteridine reductase deficiency). The ratio of PKU/non-PKU hyperphenylalaninemia was 2.0. Discussion: The major problems encountered in the screening program and in management of the detected cases were unsatisfactory sample collection, early discharge from maternity hospitals, difficulties in reaching some of the detected cases, noncompliance with dietary therapy due to illiterate parents or in families without social insurance. The health system in Turkey seems to require a second blood sampling for PKU screening obtainable in Maternal and Child Health care units in the cities and by midwives in rural areas. In Turkey, with an exceptionally high frequency of PKU, prenatal diagnosis for PKU should be combined with the neonatal screening program.

Evaluation of plasma ionized magnesium levels in neonatal hyperbilirubinemia.

Plasma levels of ionized magnesium (IMg) measured by ion-selective electrode were investigated in neonatal hyperbilirubinemia by comparing the newborns with (≥205 μM) and without (<205 μM) significant hyperbilirubinemia (groups of severe and moderate hyperbilirubinemia, respectively). Serum bilirubin, plasma IMg, and ionized calcium (ICa) levels were determined in 165 healthy term newborns with nonhemolytic indirect hyperbilirubinemia during the first 10 d of life. Mean serum bilirubin, plasma IMg, and ICa levels were 200.1 ± 126.5 μM, 0.54 ± 0.12 mM, and 1.15 ± 0.12 mM, respectively, in 165 newborns whose mean postnatal age was 156.1 ± 46.5 h, and there was a significant positive correlation between the mean serum bilirubin and plasma IMg levels (r = 0.535, p < 0.001). Serum bilirubin levels (304.4 ± 83.8 μM versus 94.1 ± 54.7 μM) and plasma IMg levels (0.6 ± 0.12 mM versus 0.49 ± 0.1 mM) were significantly higher and plasma ICa levels (1.13 ± 0.12 mM versus 1.18 ± 0.12 mM) were significantly lower in the group of severe hyperbilirubinemia (n = 83) when compared with the group with moderate hyperbilirubinemia (n = 82). Seventeen of the 83 cases of severe hyperbilirubinemia had IMg levels above the normal range (≥0.69 mM), whereas none of the 82 cases of moderate hyperbilirubinemia had elevated IMg levels. Fifteen of the 17 with high IMg levels had bilirubin levels >290 μM. Results of the present study suggest that increase in plasma IMg may be due to extracellular movement of Mg, a principally intracellular ion, resulting from generalized cellular injury including neurons and erythrocytes. Considering neuroprotective functions and beneficial effects of Mg ion in improving neurologic outcome, we also may speculate the possibility of a neuroprotective role or a compensatory mechanism in IMg increase against emerging toxicity risk of increasing serum bilirubin levels.