Kyphectomy in neonates with meningomyelocele.

PURPOSE: Kyphosis is the most severe spinal deformity associated with meningomyelocele (MMC) and is seen in approximately 15% of neonates. Our purpose is to present our clinical experience, to discuss the technique and deformity correction in kyphectomy in neonates with MMC, and to assess its long-term outcomes. METHOD: In this prospective study, the authors reviewed eight cases submitted to surgery between 2013 and 2015. We evaluated clinical characteristics that were analyzed, as were the operative technique employed, and angle range of the kyphosis deformity postcorrection follow-up. RESULTS: Neonatal kyphectomy was performed of six females and two males. The mean birth weight was 2780 g, and the mean age at the time of surgery was 5.6 days. There were S-shaped type deformity in lumbar region in all neonates. In the correction of the kyphotic deformity, a total vertebrae were removed from four patient, whereas a partial vertebrectomy was done in four. The mean operative time was 116 min. No patients did not require the blood transfusion. There were no serious complications, and wound closure was successful in all patients. The mean follow-up period was 4 years and 3 months (range 36-61 months), except one patient who died 1 week after discharge. The mean preoperative kyphosis of 75.6° (range, 50°-90°) improved at last follow-up to 35° (range 15°-55°). All patients had surgical procedures for hydrocephalus. Three patients had surgery for Chiari type II malformation. The mean hospital stay was 27.7 days. CONCLUSION: Kyphectomy performed at the time of dural sac closure in the neonate is a safe procedure with excellent correction.

Comparison of neonatal transport scoring systems and transport-related mortality score for predicting neonatal mortality risk.

OBJECTIVES: To predict the risk of mortality of neonates, birth weight and gestational age were previously used. However, these criteria were considered inadequate; therefore, various scoring systems have been developed in the recent years. The aim of the study was to evaluate the performance of predicting mortality by Mortality Index for Neonatal Transportation (MINT), Score for Neonatal Acute Physiology-Perinatal Extension II (SNAP-PE-II), and Transport Related Mortality Score (TREMS). METHODS: All infants transferred to the neonatal intensive care unit between January 1 and December 31, 2011, were included. The scores of SNAP-PE-II, MINT, and TREMS of the all cases were calculated. TREMS is our proposed scoring system and it consists of 5 variables (hypoglycemia, hypoxia, hypercarbia, hypotension, and hypothermia). The scoring systems, SNAP-PE-II, MINT, and TREMS, were compared in terms of mortality risk. RESULTS: A total of 306 newborn infants constituted the study population. The mean gestational age was 33.1 ± 5 weeks and the mean birth weight was 2031.2 ± 1018 g, and 183 (59%) babies were male. The sensitivity of MINT score for predicting mortality was higher than SNAP-PE-II and TREMS. However, specificity was higher in TREMS score. The negative predictive value was highest in MINT score, whereas TREMS has the highest positive predictive value. CONCLUSIONS: The TREMS scoring system is a simple scoring system with a high specificity for predicting mortality. Further studies with larger sample size including more centers and newborn infants with diverse clinical problems are needed to assess the validity and reliability of the TREMS scoring system.

Effects of synchronized intermittent mandatory ventilation versus pressure support plus volume guarantee ventilation in the weaning phase of preterm infants*.

OBJECTIVE: To compare the effects and short-term outcomes of pressure support ventilation with volume guarantee versus synchronized intermittent mandatory ventilation in the weaning phase of very low-birth weight infants with respiratory distress syndrome. DESIGN: Randomized controlled prospective study. SETTING: Tertiary care neonatal unit. PATIENTS: A total of 60 premature infants who were less than 33 weeks' gestation and/or less than 1,500 g birth weight and received mechanical ventilation because of respiratory distress syndrome were studied. INTERVENTIONS: All infants were ventilated from the time of admission with synchronized intermittent positive pressure ventilation mode after surfactant treatment for respiratory distress syndrome and then switched to pressure support ventilation with volume guarantee or synchronized intermittent mandatory ventilation mode in the weaning phase. The ventilatory variables and neonatal outcomes were recorded in each group. MEASUREMENTS AND MAIN RESULTS: The mean peak inflation pressure was higher in synchronized intermittent mandatory ventilation group (p < 0.001) and the mean airway pressure was higher in pressure support ventilation with volume guarantee group (p = 0.03), whereas mean tidal volume and respiratory rates were similar in both groups. The prevalence of postextubation atelectasis was higher in synchronized intermittent mandatory ventilation group, but the difference was not statistically significant (p = 0.08). No differences were found in the prevalence of reintubation, patent ductus arteriosus, intraventricular hemorrhage, retinopathy of prematurity, bronchopulmonary dysplasia, and pneumothorax between the groups. CONCLUSIONS: Pressure support ventilation with volume guarantee mode may be a safe and feasible mode during the weaning phase of very low-birth weight infants on mechanical ventilation support for respiratory distress syndrome with respect to reducing the frequency of postextubation atelectasis and using less peak inflation pressure.

Cranial sonography in extremely preterm infants.

Survival rates of extremely preterm infants have risen dramatically, paralleling improvements in prenatal and neonatal care. Cranial sonography is the primary imaging technique for the evaluation of brain injury in these patients. Extremely preterm infants have some unique features related to ongoing maturation, and associated findings on cranial sonography should be considered for accurate and early diagnosis. The aim of this pictorial essay is to illustrate normal anatomy, normal variants, and pitfalls that lead to misinterpretation of cranial sonography in extremely preterm infants.

Reference ranges for sonographic renal dimensions in preterm infants.

BACKGROUND: Ultrasonographic measurement of kidney dimensions is important in evaluation of renal disease in preterm infants who have multiple comorbidities that affect renal function. OBJECTIVE: The purpose of this study was to determine the reference ranges of kidney dimensions in preterm newborns and to provide a chart to use easily in daily practice. MATERIALS AND METHODS: We evaluated renal dimensions in 498 preterm infants with a gestational age of <37 weeks using sonography within the first week of life. We statistically analyzed the relationships between all dimensions and gender, gestational age (based on the last menstrual period), height and weight. Minimum and maximum values of dimensions were defined. RESULTS: All dimensions of the kidneys were statistically different in boys and girls (P < 0.05). Both longitudinal and anteroposterior dimensions of the right and left kidneys showed high correlation with gestational age, weight and height in girls and boys. Weight correlated best with dimensions. CONCLUSION: Nomograms from these data can be used to determine an abnormality in kidneys of preterm newborns.

Reference ranges for sonographic dimensions of the liver and spleen in preterm infants.

BACKGROUND: Preterm infants usually have multiple comorbidities that affect spleen and liver. Ultrasonographic measurement of organ sizes is an important and reliable parameter in evaluation of spleen and liver pathology in preterm newborns. OBJECTIVE: The purpose of this study was to determine reference values of ultrasonographic measurements of the liver and spleen in preterm newborns. MATERIALS AND METHODS: We prospectively performed sonography on 498 preterm newborns in the first week of life. We measured spleen and liver dimensions and statistically analyzed relationships between the dimensions and gender, gestational age (based on mother's last menstrual period), height and weight. Reference ranges of dimensions were defined. RESULTS: Longitudinal and anteroposterior dimensions of the liver and spleen were statistically significantly different between the boys and girls (P < 0.05) and showed high correlation with the gestational age, weight and height. Weight was the parameter best correlated with the dimensions. CONCLUSION: Nomograms from these data are useful for sonographic evaluation of the liver and spleen in preterm newborns.

Escherichia coli brain abscess in a twin pair associated with TLR4 gene mutation.

Brain abscesses are uncommon complications of bacterial meningitis or sepsis in neonates and infants. The causative pathogens of brain abscess in newborns are various. Of those, Escherichia coli is rarely seen as a pathogen in brain abscess at this age. Herein we reported brain abscesses in twin infants caused by E. coli sepsis. Interestingly, genetic analysis identified heterozygous Toll-like receptor 4 (TLR4) gene mutation in the twins. Because TLR plays an important role in the natural response to bacterial products and initiates specific immune response against these pathogens, this may explain the development of brain abscess in the present case.

Central nervous system involvement of epstein barr virus associated lymphoproliferative disorder in a child with acute lymphoblastic leukemia: successful treatment with rituximab and interferon-alpha.

UNLABELLED: Central nervous system (CNS) involvement of Epstein-Barr virus (EBV)-associated lymphoproliferative disease is a rare and serious complication in children with leukemia. Although rituximab therapy seems to be promising in these cases, persistent hypogammaglobulinemia may appear after treatment due to complete depletion of normal B lymphocytes in the peripheral blood. Here we report isolated CNS involvement of EBV-associated lymphoproliferative disorder in a 4-year-old boy with acute leukemia. The patient was treated with rituximab and interferon alpha; however, persistent hypogammaglobulinemia developed as a complication. Given the rarity of the complication in children receiving these agents, our experience with such a case may be helpful to others. CONFLICT OF INTEREST: None declared.

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.

Value of urinary kidney injury molecule-1 levels in predicting acute kidney injury in very low birth weight preterm infants.

OBJECTIVE: This study aimed to evaluate the significance of urinary kidney injury molecule-1 (uKIM-1) levels in predicting acute kidney injury (AKI) and mortality in very low birth weight (VLBW) preterm infants. METHODS: This prospective, observational cohort study was conducted on 39 VLBW preterm infants. Serum creatinine (SCr) and uKIM-1 levels were measured in the first 24 and 48 to 72 hours of life. The estimated glomerular filtration rate (eGFR) was calculated. Levels of uKIM-1 were measured with an enzyme-linked immunosorbent assay. RESULTS: Among 39 VLBW infants, 9 (23%) developed AKI. The mortality rate was 17.9% (n = 7 neonates). There was no significant difference in SCr levels, uKIM-1 levels, or the eGFR obtained in the first 24 hours in the AKI group compared with controls. However, significant differences were found in SCr and uKIM-1 levels, and the eGFR rate at 48 to 72 hours between the groups. Levels of uKIM-1 were significantly higher in non-survivors than in survivors in the first 24 and 48 to 72 hours of life. CONCLUSION: The level of uKIM-1 can be used as a simple noninvasive diagnostic method for predicting AKI and mortality, especially within 48 to 72 hours of life.Clinical trial registration: We do not have a clinical trial registration ID. In Turkey, clinical trial registration is not required for non-drug, noninvasive, clinical studies.

A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita.

Adrenal hypoplasia congenita (AHC) is a rare inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. A novel DAX1 (NR0B1) gene mutation was detected in a Turkish newborn boy presenting with primary adrenal insufficiency. He was from a family with a history of unexplained death of three male siblings in the neonatal period. This report highlights the value of mutational analysis of the DAX1 gene for definitive diagnosis of AHC as well as for genetic counselling because this disorder shows an X-linked genetic pattern of transmission, providing the possibility of finding new cases even in presymptomatic individuals.

The relationship between glucagon-like peptide 2 and feeding intolerance in preterm infants.

Glucagon-like peptide 2 (GLP-2) is a hormone produced primarily in the distal intestine, stimulated by enteral nutrients, and playing diverse roles in the intestinal adaptation and growth. We aimed to investigate whether GLP-2 may play a role in the development of feeding intolerance which is a common problem in preterm newborns resulting from the intestinal immaturity. The study included 20 term and 28 preterm neonates. Of preterm babies, 13 showed feeding intolerance fulfilling at least one of the following criteria: abdominal distension, increased gastric residual volume and presence of bile in the gastric aspirate. The plasma GLP-2 levels measured prior to enteral feeding (fasting level) and at 60 min after the beginning of the feeding (post-pradial level) were correlated with of clinical parameters. There was no statistical difference between GLP-2 levels of overall preterm babies and those of term newborns. However, preterm neonates with feeding intolerance showed significantly lower levels of GLP-2 and increased duration to achieve full enteral feeding and hospitalization. It is suggested that GLP-2 plays a significant role in the regulation of feeding in newborns and that preterm babies with low levels of GLP-2 carry a risk for development of feeding intolerance. It may, therefore, be of relevance to investigate the therapeutic and prophylactic effects of GLP-2 administration in the preterm babies.

Chorioangiomatosis presenting with severe anemia and heart failure in a newborn.

Although chorioangiomas are the most common placental tumors, multiple chorioangiomas (or chorioangiomatosis) are extremely rare. We report a female newborn at 37 weeks of gestation presenting with severe anemia, thrombocytopenia, heart failure, and intrauterine growth retardation. The pathological examination of the placenta revealed chorioangiomatosis explaining the pathophysiology of the symptoms presented. The patient was treated successfully with erythrocyte and thrombocyte transfusions and was discharged after full recovery. We conclude that evaluating placental lesions may be of great value in explaining severe problems during the fetal and the neonatal period and thus prevents performing unnecessary clinical investigations.

Diagnostic value of urine soluble triggering receptor expressed on myeloid cells (sTREM-1) for late-onset neonatal sepsis in infected preterm neonates.

Objective Sepsis is a complex clinical condition caused by a dysregulated immune response to an infection resulting in a fatal outcome. This study aimed to investigate the value of urine soluble triggering receptor expressed on myeloid cells (sTREM-1) for diagnosing culture-proven sepsis in preterm infants. Methods Preterm neonates were evaluated for late-onset sepsis (LOS). Laboratory investigations were performed. Urine sTREM-1 samples and blood cultures were synchronously collected. Using blood culture results, preterm neonates were divided into the culture-proven group and suspected sepsis group. Results A total of preterm 62 infants were included in the study; 31 had culture-proven sepsis and 31 were suspected as having sepsis. There were no significant differences in gestational age, sex, birth weight, and delivery mode between the groups. Neonates in the culture-proven group had significantly higher urine sTREM-1 levels than did those in the suspected sepsis group. Using a cut-off point for a urine sTREM-1 level of 78.5 pg/mL, the sensitivity was 0.90, specificity was 0.78, positive predictive value was 0.68, and negative predictive value was 0.94. Conclusions The present study highlights the role of urine sTREM-1 levels in LOS. Urine sTREM-1 may be a reliable and sensitive marker in detecting sepsis in preterm infants.

Efficacy and Safety of Intravenous Colistin in Very Low Birth Weight Preterm Infants.

BACKGROUND: Given the severity and high mortality of multidrug-resistant Gram-negative bacilli (MDR-GNB) infections, the use of colistin will increase in patients with MDR-GNB infection. OBJECTIVE: This study aims to assess the efficacy and safety of intravenous colistin in very low birth weight (VLBW; birth weight < 1500 g) preterm infants. METHODS: We retrospectively analyzed the medical records of patients who received colistin between June 2016 and December 2017. The patients were assigned to two groups: the VLBW group and the non-VLBW group. Both groups were evaluated for response to treatment and adverse effects. RESULTS: In total, 66 infants who received colistin therapy were included; of these, 28 infants were VLBW. All of our patients received standard colistin treatment of 5 mg/kg per day in three doses and the median duration of colistin treatment was 14 days. No significant differences were observed between the groups with respect to the efficacy of colistin (defined as showing microbiological clearance in control cultures and the absence of mortality during treatment) (89.3 vs 86.8%, p > 0.99). Serum magnesium and potassium levels were significantly lower in the VLBW group than in the non-VLBW group during colistin therapy (magnesium, 1.30 vs 1.70 mg/dL, p < 0.001; potassium, 3.6 vs 4.6 mEq/L, p < 0.001). Acute kidney injury was observed in four infants in the VLBW group and one in the non-VLBW group, without significant differences (p = 0.15). CONCLUSIONS: Colistin administration appears to be efficacious in VLBW infants; however, renal function tests and serum electrolytes should be monitored more closely in these infants during treatment.

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.

Congenital Complete Tracheal Ring in a Neonate: A Case Report.

Abnormalities of the upper airway tract lead to congenital high airway obstruction and may complicate neonatal airway management in the delivery room. Congenital complete tracheal rings are a rare and unusual tracheal anomaly, usually presenting in the neonate or infant as respiratory distress. The clinical presentation can vary from almost asymptomatic patients to near-fatal airway obstruction. It may exist as an isolated entity, or in association with other congenital malformations, in particular, cardiac anomalies along with vascular rings and pulmonary slings. Other associated anomalies have also been reported, for example, chromosomal anomalies, malformation of other parts of the respiratory tract, esophagus and skeletal systems. Here, we report an extreme case of VACTERL/TACRD association presented with congenital complete tracheal ring, encephalocele, bilateral radial agenesis with absent thumbs, equinovalgus deformity on right foot, low-set ears and micrognathia.

Reference values of serum IgG and IgM levels in preterm and term newborns.

AIM: Although, variations of normal immunoglobulin (Ig) levels in different gestational age and birth weight groups have been studied so far, data are still limited in newborns, especially in preterm infants. The aim of this study was to determine serum IgG and IgM levels in newborns in order to generate a reference standard for neonatal intensive care unit (NICU) and address the variations in preterm babies. METHODS: This study was conducted from June 2012 to June 2013 in a level III NICU. A total of 300 newborn infants hospitalized within first 72 h were included in the study. The quantification of serum IgG and IgM was performed by nephelometric method. RESULTS: Both serum IgG and IgM levels were increased in correlation with increased gestational age and birth weight. CONCLUSION: The reference values of serum IgG and IgM levels should be further evaluated in larger series with the presented data in this article. In addition, preterm babies appear to have lower Ig levels thus carry the risk of relevant morbidity.

Effect of retinoic acid on oxygen-induced lung injury in the newborn rat.

Oxygen-induced lung injury is believed to lead to the development of bronchopulmonary dysplasia (BPD). To determine whether retinoic acid (RA) treatment prevents the development of BPD by minimizing lung injury, we investigated the effect of RA on the histopathologic characteristics of oxygen-induced lung injury in a newborn rat model. Eighteen rat pups were divided into three groups: room air-exposed control group (n=5), oxygen-exposed placebo group (n=7), and RA-treated oxygen-exposed group (n=6). Measurement of alveolar area, quantitation of secondary crest formation, microvessel count, evaluation of alveolar septal fibrosis, and smooth muscle actin (SMA) immunostaining were performed to assess oxygen-induced changes in lung morphology. Treatment of oxygen-exposed animals with RA resulted in a significant increase in mean alveolar area; however, it had no effect on the number of secondary crests and microvessel count. The degree of fibrosis and SMA expression showed a significant decrease in RA-treated animals. We conclude that RA treatment improves alveolar structure and decreases fibrosis in the newborn rat with oxygen-induced lung injury. Extrapolating these findings to humans, we speculate that similar treatment with RA may reduce lung injury in preterm infants at risk for BPD.

Surfactant treatment for neonatal respiratory disorders other than respiratory distress syndrome.

BACKGROUND: It is suggested that there may be expanded use of surfactant replacement for the neonatal diseases such as meconium aspiration syndrome (MAS), pneumonia and possibly bronchopulmonary dysplasia (BPD). OBJECTIVE: To evaluate the characteristics and short-term outcome of the neonates given exogenous surfactant because of the diseases other than respiratory disease syndrome (RDS). METHODS: This retrospective study included 35 neonates admitted to the neonatal intensive care unit from January 2012 to December 2012 for an expanded use of surfactant. Data related to gestational age, birth weight, gender and perinatal risk factors were obtained from the patients' records. The short-term prognosis was also noted. RESULTS: The diagnosis was sepsis in 16 patients, eight MAS, seven transient tachypnea of the newborns (TTN) and four BPD. Mean gestational age was 35.6 ± 4.5 weeks and mean birth weight was 2661 ± 981 g. Of overall cases, 65% were boys and 35% girls. The mortality rate was 17%. Of six fatal cases, three was with BPD, two with sepsis and one with MAS. CONCLUSION: We think that surfactant replacement may be life saver in the neonatal diseases other than RDS such as BPD, MAS and sepsis by rapidly improving oxygenation. Further investigation is necessary to validate the significance of expanded use of surfactant.