Endothelial nitric oxide synthase G894T, intron 4 VNTR, and T786C polymorphisms in retinopathy of prematurity.

BACKGROUND: Our objective in this study was to assess the association between eNOS gene, that achieves synthesis of nitric oxide especially in the endothelial cells known to have an important role in angiogenesis and vasculogenesis, G894T, intron 4 VNTR (27-bp repeat) and T786C functional polymorphisms and retinopathy of prematurity (ROP), which is an important cause of morbidity in premature or low birth weight babies. METHODS: A total of 139 babies who were followed up in our neonatal intensive care unit because of premature birth in our hospital or admitted to our unit. 69 of them had retinopathy of prematurity and comprised the patients group. The remaining 70 babies who did not have ROP comprised the control group. An additional of 1 ml of blood samples were drawn from babies who were in the study groups during routine laboratory analysis. eNOS gene polymorphisms were determined by using polymerase chain reaction method. RESULTS: eNOS G894T, intron 4 VNTR and T786C gene polymorphisms did not differ between the patient and control groups (p > 0.05). Using logistic regression analysis; while gender did not differ between two groups; gestational age, birth weight, time on mechanical ventilation differ between two groups. After adjustment for variables other than eNOS gene polymorphisms, we found no significant difference in the genotype distribution of eNOS G894T, intron 4 VNTR and T786C polymorphisms (p > 0.05). CONCLUSION: We observed no association between ROP and eNOS gene polymorphisms but needs more investigation.

Ochratoxin A: is it present in breast milk samples obtained from mothers from Ankara, Turkey?

Breast feeding is very important in the first year of life. However, breast milk may be contaminated with many residues of xenobiotics and naturally occurring toxins such as mycotoxins. Ochratoxin A (OTA) is one of mycotoxins that may play a causative role in some diseases seen in neonates. Therefore, the present study was undertaken to determine OTA levels in breast milk samples. For this purpose breast milk samples were collected from 75 mothers. Their babies were in-patients in the Department of Pediatrics, Section of Neonatology, Hacettepe University, Faculty of Medicine, in Ankara, Turkey. All samples were stored at -20 degrees C until analysis. Following an extraction procedure, OTA levels were determined by high-performance liquid chromatography (HPLC). Mean coefficient values for within-day and between-day variations of the method were 7.3 and 4.9%, respectively. The detection limit of the method was found to be 10 ng l(-1). The recovery percentage of OTA was 91.70 and 136.6 for two different concentrations added to breast milk samples. OTA was found in all samples tested in the range of 620.87-13111.30 ng l(-1). Considering potential hazard of OTA to human health, and especially the vulnerability of infants, the present data suggest the necessity of further research on OTA in Turkey, either monitoring its levels in biological fluids and foods or evolving protection strategies.

Exposure of newborns to aflatoxin M1 and B1 from mothers' breast milk in Ankara, Turkey.

Aflatoxins (AFs) are important risks for human health due to their widespread presence in foods and environment. However, contamination risk of breast milk with different pollutants including AFs is high in today's life conditions. Since breast milk is a major nutrient for infants, feeding of infants with safe milk is essential. Therefore, the objective of this study was to determine the levels of AF M(1) and B(1) in breast milk samples collected from 75 mothers in Ankara, Turkey. AF M(1) and B(1) levels were investigated by high performance liquid chromatography (HPLC) with a fluorescence detector following an extraction procedure. The limit of detection was found to be 5 ng/l. Both AFs were detected in diverse degrees in all breast milk samples: The level of AF M(1) were in the ranges of 60.90-299.99 ng/l, and AF B(1) were in the ranges of 94.50-4123.80 ng/l. These results pointed out the exposure of mothers and neonates to AF M(1) and B(1), and the necessity of further research on mycotoxin contamination both in foods and biological fluids as well as protection strategies.

Whole blood versus red cells and plasma for exchange transfusion in ABO haemolytic disease.

Records of 381 neonates who underwent exchange transfusion (ET) due to ABO haemolytic disease at the Division of Neonatology of Hacettepe University, Ankara, Turkey, between January 1977 and December 2003 were reviewed. Records were kept for the type of blood used in ET, the number of ETs for each infant, adverse event attributable to ET and bilirubin levels before, and 4 and 8 h after each ET. Of 381 infants, 300 were transfused with whole blood, whereas 81 infants were transfused with O red cells suspended in A or B plasma. The re-exchange rate was higher in the whole blood group, compared with the erythrocyte and plasma group. Use of erythrocyte and plasma provided 30% reduction in the number of ETs per patient. Eight hours after the first ET, mean bilirubin levels were 84% of the pre-exchange values in the whole blood group and 73% of the pre-exchange values in the erythrocyte and plasma group (P = 0.001). As the use of O group red cells re-suspended in AB plasma decreased the re-exchange risk compared with O group whole blood, we suggest the use of O red cells re-suspended in AB plasma for the ET in cases of ABO haemolytic disease.

Prenatal diagnosis of ranula at 21 weeks of gestation.

A fetal sublingual cystic lesion was diagnosed by routine prenatal ultrasonography at 21 weeks of gestation and followed up until term in a tertiary care center. Fetal growth was normal as was the amniotic fluid volume. Ex utero intrapartum treatment was performed and the cyst was aspirated to allow breathing and swallowing during planned Cesarean section. The cyst was totally excised when the newborn was 27 days of age and histological examination revealed a mucous cyst of the mouth floor.

Endothelin 1 concentrations in infants with meconium stained amniotic fluid.

Plasma endothelin 1 concentrations were determined in infants with meconium stained amniotic fluid. Plasma endothelin 1 concentration in the study group (5.23 pg/ml) was statistically higher than that in the control group (1.12 pg/ml). Cord blood pH and base excess values were significantly lower in infants with meconium stained amniotic fluid when compared with the control group. There was no correlation between endothelin 1 concentrations and pH or base excess values. Results suggest that meconium passage is not a physiological event, even if meconium stained infants appear to be clinically healthy.

Lethal hydrops fetalis due to congenital dyserythropoietic anemia in a newborn: association of a new skeletal abnormality.

Congenital dyserythropoietic anemias (CDAs) are a group of hereditary refractory anemias characterized by ineffective erythropoiesis, typical morphological abnormalities of erythroblasts, a low or no reticulocyte response, hyperbilirubinemia, and splenomegaly. A massive hydropic newborn born with a very severe anemia (Hb 4.8 g/dL), diffuse edema, hepatosplenomegaly, ascites, pulmonary edema and respiratory distress, and shortness and hallux varus deformity of the great toe of the right foot was diagnosed to have congenital dyserythropoietic anemia on the basis of the hematological (macrocytosis, anisopoikilocytosis, fragmented red cells and erythroblastosis in the peripheral blood, and erythroid hyperplasia with erythroblastosis and erythroblasts with double nuclei and thin chromatin bridges connecting these nuclei in the bone marrow) and serological (negative acidified serum lysis test and no agglutination with anti-i antibodies) findings. In this article the seventh case of neonatal congenital dyserythropoietic anemia presenting with a very severe (lethal) form of hydrops fetalis and a new (hallux varus) deformity of the great toe of the right foot is presented. Congenital dyserythropoietic anemia should be considered in the differential diagnosis of hydrops fetalis presenting with a very severe anemia and a skeletal abnormality of the great toe.

Serratia marcescens: an emerging microorganism in the neonatal intensive care unit.

As smaller babies survive in neonatal intensive care units, late-onset septicemia with unusual pathogens appears. Between 1 January and 31 December 1998, in Hacettepe University Ihsan Dogramaci Children's Hospital Neonatal Intensive Care Unit, seven infants had S. marcescens isolates. Four babies had septicemia with the microorganism. The case fatality rate was 50 percent in infants with S. marcescens septicemia. The combination of ceftazidime or imipenem with amikacin appears appropriate for the treatment of newborns with Serratia infection.

Neonatal morbidity and mortality associated with maternal HELLP syndrome.

The syndrome of hemolysis, elevated liver enzymes and low platelet count (HELLP syndrome) is a severe form of preeclampsia and eclampsia. To compare the impact of HELLP syndrome and hypertension in pregnancy (HIP) on neonatal morbidity and mortality, 11 infants born to mothers with HELLP syndrome were recruited between 1993 and 1997 from neonatal records. They were compared to 11 infants born to mothers with HIP and 11 control infants born to healthy mothers matched for gestational age, postnatal age and gender. Cesarean section rate was higher in the HELLP group than in the controls (p < 0.05). HELLP group infants had lower Apgar scores (54.5% < 1 at 5th min), than controls (9.1%) (p < 0.05). Both HELLP and HIP group infants showed a higher incidence of intrauterine growth retardation (63.6% and 54.5%, respectively) than the controls (9.1%) (p < 0.05). The incidence of respiratory distress syndrome (RDS) was similar in HELLP and HIP groups and was greater than that in controls (p = NS). Additionally, the neonatal death rate was the highest in the HELLP group (p = NS).

Pseudomonas sepsis with neutrophagocytosis in a premature newborn.

Secondary hemophagocytic syndrome may develop during certain severe infections commonly due to viral infections, but is rarely associated with bacterial infections, and its appearance in a premature newborn is uncommon. We present a case of hemophagocytosis during Pseudomonas aeruginosa septicemia in a premature infant. After sepsis treatment with imipenem-cilastatin and aminoglycoside, remission of hemophagocytosis was achieved.

Accessory scrotum: an unusual localization of scrotal skin.

Accessory scrotum is an extremely rare congenital scrotal anomaly defined as the occurrence of scrotal skin outside of its proper location with no testicular tissue. We report a preterm twin male infant who had an accessory scrotum located on the right inguinal and proximal femoral region.

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.

Serum malondialdehyde concentration as a measure of oxygen free radical damage in preterm infants.

Lipid peroxidation was measured in 35 preterm infants by determining serum malondialdehyde (MDA) levels during the fist week of life. Serum concentrations of MDA were measured at one hour, 24 hours, 48 hours and one week of age. There were no correlations between gestational age, birth weight, and serum malondialdehyde levels at one, 24, or 48 hours, or on day seven. Serum MDA levels were higher in infants requiring mechanical ventilation compared to those breathing spontaneously, but the difference was not statistically significant. There were no correlations between MDA levels and corresponding fraction of inspired oxygen (FiO2) levels and arterial oxygen tension. No significant difference in serum MDA concentration was seen in relation to intravenous feeding with lipid emulsions. Serum MDA concentrations of infants with sepsis were not different at hours one, 24 and 48, but were significantly higher on day seven, when compared with infants without sepsis. MDA levels in the first and second serum samples were significantly higher in infants who were born after spontaneous vaginal delivery, compared to those born by cesarean section.

Netherton's syndrome and neonatal hypernatremia. A case report.

Netherton's syndrome is characterized by ichthyosiform desquamation, bamboo hair and often atopic diathesis. It is transmitted as an autosomal-recessive trait. In this paper we report a baby with Netherton's syndrome who developed hypernatremia during the neonatal period. This complication should be remembered in erythrodermic infants as a preventable cause of neonatal morbidity.

Bilateral abdominal aplasia cutis congenita associated with atrial septal defect: a case report.

A full-term infant girl who had bilateral, symmetrical, sharply defined, triangular-shaped ulcers on both sides of the umbilicus is described. A punch biopsy specimen showed histologic findings of aplasia cutis. Echocardiographic examination revealed primum-type atrial septal defect. To our knowledge, this association is the first of its kind to be reported in the literature.