Esra Arun Ozer

Effects of erythropoietin on hyperoxic lung injury in neonatal rats

Pulmonary oxygen toxicity is believed to play a prominent role in the lung injury that leads to the development of bronchopulmonary dysplasia (BPD). To determine whether human recombinant erythropoietin (rhEPO) treatment reduces the risk of developing BPD, we investigated the effect of rhEPO treatment on the histopathologic changes seen in hyperoxia-induced lung injury of BPD. Twenty-five rat pups were divided into four groups: air-exposed control group (n = 5), hyperoxia-exposed placebo group (n = 7), hyperoxia-exposed rhEPO-treated group (n = 6), and air-exposed rhEPO-treated group (n = 7). Measurement of alveolar surface area, quantification of secondary crest formation, microvessel count, evaluation of alveolar septal fibrosis, and smooth muscle actin immunostaining were performed to assess hyperoxia-induced changes in lung morphology. Treatment of hyperoxia-exposed animals with rhEPO resulted in a significant increase in the mean alveolar area, number of secondary crests formed, and the microvessel count in comparison with hyperoxia-exposed placebo-treated animals. There was significantly less fibrosis in rhEPO-treated animals. However, treatment of hyperoxia-exposed animals with rhEPO did not result in a significant change in smooth muscle content compared with hyperoxia-exposed placebo treated animals. Our results suggest treatment with rhEPO during hyperoxia exposure is associated with improved alveolar structure, enhanced vascularity, and decreased fibrosis. Therefore, we conclude that treatment of preterm infants with EPO might reduce the risk of developing BPD.

Transient tachypnea of the newborn: Predictive factor for prolonged tachypnea

Background: Because there is a lack of well‐established criteria, the aim of the present paper was to determine risk factors to predict the duration of tachypnea in transient tachypnea of the newborn (TTN).

Accuracy of Prenatal Diagnosis of Congenital Heart Disease with Fetal Echocardiography

Objective: To study the diagnostic value of fetal echocardiography in detecting congenital heart disease (CHD) during the prenatal period. Methods: One hundred and ninety-seven pregnant women with a high risk of prenatal CHD of their fetuses were included in this study. The fetal heart was scanned with echocardiography, performing complete evaluation of the cardiac system. The prenatal echocardiographic findings were correlated with postnatal echocardiography results or autopsy findings, if the pregnancy was terminated or the fetus died in utero. Results: 10 of the 197 fetuses showed CHD by fetal echocardiography, whereas postnatal echocardiography and postmortem examination revealed cardiac abnormalities in 21 patients. Of those, 7 (41.1%) had the most common referral indication, i.e., cardiac abnormality, found on routine ultrasound examination. Specificity and sensitivity of fetal echocardiography for cardiac abnormalities were found to be 98 and 42%, respectively. The positive predictive value of echocardiography was 90% and the negative predictive value 93%. Conclusions: We conclude that fetal echocardiography is a reliable tool for prenatal diagnosis in experienced hands. Pediatric cardiologists should be more aware while performing fetal echocardiography in patients referred by obstetricians for CHD.

Involuntary movements in infantile cobalamin deficiency appearing after treatment

Involuntary movements may be a symptom in most infants who present with neurologic syndrome of infantile cobalamin (vitamin B12) deficiency. In this report, two infants with cobalamin deficiency are presented. These patients also developed a striking movement disorder that appeared a few days after treatment with intramuscular cobalamin. The movement disorder was characterized by severe involuntary movements, which were a combination of tremor and myoclonus particularly involving tongue, face, pharynx, and legs. The neurologic symptoms improved within a few days after the administration of clonazepam. In each patient the mother was also cobalamin deficient and the infant was solely breast-fed. The cause of involuntary movements that can appear rarely after treatment in infantile cobalamin deficiency is not known. Besides initial neurologic presenting symptoms of cobalamin deficiency, the occurrence of involuntary movements after treatment should also receive attention. This movement disorder may disappear spontaneously, or an additional treatment may be an alternative approach if the symptoms are severe.

Assessment of myocardial dysfunction in neonates with hypoxic-ischemic encephalopathy: is it a significant predictor of mortality?

Objectives. Hypoxic-ischemic cerebral injury due to perinatal asphyxia is an important cause of neonatal mortality and morbidity. To predict who will survive or die due to this disorder still remains obscure. The aim of this study is to evaluate the predictive value of myocardial involvement in the assessment of mortality for the neonates with hypoxic-ischemic encephalopathy (HIE). Patients and methods. The study included 34 term newborns fulfilling the diagnostic criteria for HIE and staged according to Sarnat and Sarnat classification. To assess the myocardial involvement, electrocardiogram (ECG) and echocardiogram (Echo) were performed in the first 24–48 h of life. In addition, serum Troponin I and creatine kinase-myocardial band (CK-MB) were measured at delivery and postnatal day 3. Results. Of the 34 cases, 19 (55.9%) were stage in 1, 9 were in (26.4%) stage 2 and 6 (17.6%) were in stage 3 HIE. Nine (26.4%) patients died of the disease. Thirteen patients (38.2%) showed ECG findings related to perinatal asphyxia. Only one patient had mild Echo changes. Higher Troponin I level was a significant predictor of mortality, whereas CK-MB did not show any significant predicting value. Troponin I test showed 33% sensitivity and 80% specificity in predicting mortality. In addition, the sensitivity and specificity of ECG as a predictor of mortality were 77 and 76%, respectively. Conclusion. This study highlights the significance of monitoring cardiac functions in newborns with HIE. ECG changes and serum Troponin I level at 72 h after birth are likely to have significant predictive value in the assessment of mortality in HIE. Further studies will provide additional data for the long-term prognostic value of cardiac functions in this disorder.

The use of botulinum toxin type a treatment in children with spasticity

The current modalities in managing spastic children have some limitations; thus, alternative therapeutic agents are in need. The purpose of this study is to investigate whether intramuscular botulinum toxin type A administration may be an alternative agent in the treatment of children with cerebral palsy. Eighteen children who were aged between 3 and 17 years and manifested cerebral palsy were administered intramuscular botulinum toxin type A with a total dose of 6 U/kg body weight. Outcome measurements were determined with four methods, including Ashworth Spasticity Scale, standardized videotape assessments, observational gait analysis, and walking velocity. Ashworth Spasticity Scale and videotape assessments were statistically significant before and after treatment in all muscles (P < 0.001). The best improvement in video gait analysis was evident at week 8. The botulinum toxin type A injections yielded an improved walking velocity at all visits. The observational gait analysis and walking velocity demonstrated an improvement after treatment in the gastrocnemius-injected group (P < 0.001). In conclusion, intramuscular botulinum toxin type A administration may be effective in children with cerebral palsy, especially at week 4 and when injected in gastrocnemius.

MUTATION OF THE PROTON-COUPLED FOLATE TRANSPORTER GENE (PCFT-SLC46A1) IN TURKISH SIBLINGS WITH HEREDITARY FOLATE MALABSORPTION

Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder characterized by systemic and central nervous system folate deficiency. Turkish siblings are reported with the clinical syndrome of HFM, homozygous for deletion of 2 bases (c.204_205 delCC) within the first exon of the proton-coupled folate transporter (PCFT) gene, causing a frameshift. Low blood and cerebrospinal fluid folate levels were detected at ages 3.5 and 1 month. Treatment with parenteral 5-formyltetrahydrofolate resulted in normal development now at ages 3 and 1 year. Extending current knowledge on the phenotypic manifestations of HFM and the PCFT mutation spectrum will provide opportunities to define possible genotype-phenotype correlations and clarify the basis for the phenotypic variability that is characteristic of this disorder.

Unsynchronized nasal intermittent positive pressure versus nasal continuous positive airway pressure in preterm infants after extubation

Abstract Objective: To determine the effect of unsynchronized nasal intermittent positive pressure ventilation compared to continuous positive airway pressure in preterm infants after extubation. Methods: A total of 67 premature infants who were <35 weeks gestation and/or <2000 g birth weight and received mechanical ventilation because of respiratory distress syndrome (RDS) were studied. Infants were randomized to receive either unsynchronized nasal intermittent positive pressure ventilation (NIPPV) with shortened endotracheal tube (Group 1) or nasal continuous positive airway pressure (NCPAP) with binasal prongs (Group 2) after extubation. Extubation failure and neonatal outcomes were recorded in each group. Results: There were no significant differences in clinical characteristics between the two groups. The prevalence of re-intubation and post-extubation atelectasis were higher in CPAP group (p = 0.03 and p = 0.01). No differences were observed in the prevalence of IVH, ROP, PDA, NEC, sepsis, pneumothorax, BPD and BPD/death between the groups while the mortality was higher in NCPAP group (p < 0.01). Neither procedure had any serious side effects such as intestinal perforation. Conclusion: NIPPV (although non-synchronized and delivered by single nasal prong) had a better effect than NCPAP after extubation of preterm infants on mechanical ventilation in respect to reducing the prevalence of post-extubation atelectasis, re-intubation and also death.

No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome.

Fanconi-Bickel syndrome (FBS), or glycogen storage disease type XI, is a rare, well-defined clinical entity. Recently, this disease was elucidated to link mutations in the SLC2A2 gene in many ethnic groups, indicating that FBS is a single gene disease. We report here an 8-month-old Turkish girl who developed characteristic findings of FBS. However, no mutation was detected in the protein-coding region of the SLC2A2 gene. Therefore, we propose that further molecular analysis is needed to determine whether other genes are involved in FBS.

POLYCYTHEMIA VERA IN A 12-YEAR-OLD GIRL: A Case Report

A case of a 12-year-old girl presenting with headache and splenomegaly and fulfilling the diagnostic criteria of polycythemia vera is reported. Her peripheral blood values were as follows: hemoglobin 18 g/dL, red blood cells 7,000,000/mm 3 , white blood cells 22,000/mm 3 , and platelets 1,248,000/mm 3 . Phlebotomy was performed initially but was ineffective. Afterward 100 mg/kg per day aspirin and 30/mg/kg per day hydroxyurea were given. The patient has been asypmtomatic for 1 year and her recent hemoglobin level is 15.5 g/dL, platelet count 922,000/mm 3 , and white blood cell 12,800/mm 3 . Polycythemia vera is an extremely uncommon disease in childhood and for this reason its treatment is not well established.