Effects of hyperbilirubinemia on markers of genotoxicity and total oxidant and antioxidant status in newborns.

Hyperbilirubinemia is one of the most common diseases in neonates. Slight elevations in bilirubin levels exert antioxidant effects but high levels may cause oxidative damage in newborns. We assessed the effects of hyperbilirubinemia on DNA damage and total oxidant and antioxidant status in newborns receiving phototherapy. A total of 68 term newborn infants exhibiting idiopathic unconjugated hyperbilirubinemia (UCH) requiring phototherapy and 27 age-matched healthy controls were enrolled in the study. Plasma 8-hydroxy-2 deoxy-guanosine (8-OH-dG) levels, total oxidant status (TOS), and total antioxidant status (TAS) were compared between newborns with UCH requiring phototherapy and age-matched healthy controls. The extent of DNA damage, the TOS, and the TAS were significantly higher in the study group than the control group (p < 0.01). The extent of DNA damage and the TOS increased at lower bilirubin levels; this became significant at bilirubin levels >16 mg/dL. A significant increase in TAS was observed even at low bilirubin levels, and the TAS was positively correlated with the bilirubin level to 30 mg/dL. At slightly elevated levels bilirubin serves as a physiological antioxidant. However, the high bilirubin levels evident in the present study increased DNA damage and oxidative stress.

Oral Ibuprofen Versus Oral Paracetamol in Pain Management During Screening for Retinopathy of Prematurity: A Prospective Observational Study.

Screening examinations for retinopathy of prematurity (ROP) are critical to reduce ROP-related vision loss; however, the procedure is painful and uncomfortable, and topical anesthetics do not completely suppress the pain responses. The number of safe and effective pharmacological options to reduce pain during eye examinations for ROP screening in preterm infants is limited. This study compared the efficacy of oral ibuprofen and oral paracetamol in reducing pain during screening for ROP in preterm infants. This prospective observational study was conducted at a tertiary-care neonatal intensive care unit. Forty-four preterm infants with gestational age of 32 weeks and less undergoing ROP screening were included. Each enrolled infant received either oral ibuprofen 10 mg/kg (n = 22) or oral paracetamol 10 mg/kg (n = 22) 1 hour before eye examination. The primary outcome measure was pain assessed by the Neonatal Pain, Agitation, and Sedation Scale (N-PASS). Secondary outcome measures were tachycardia, bradycardia, desaturations, and crying time. The groups were similar for gestational age, birth weight, and postnatal age at examination (P > .05). The mean N-PASS scores were not significantly different between the oral ibuprofen and oral paracetamol groups (8.64 ± 1.57 vs 8.50 ± 1.71, respectively, P = .605). Moreover, no significant intergroup differences were observed in the crying time and the incidence of tachycardia/bradycardia and desaturation (P > .05). Ibuprofen or paracetamol administered orally before ROP screening in preterm infants had similar analgesic effects and did not significantly alleviate pain during eye examination.

Elevated Red Cell Distribution Width as a Useful Marker in Neonatal Sepsis.

Neonatal sepsis is an important cause of neonatal morbidity and mortality in the neonatal intensive care unit. Red blood cell distribution width (RDW) is an important and independent prognostic factor in several diseases. The objective of this study was to evaluate the diagnostic value of RDW in neonatal sepsis. An observational, retrospective cohort study was conducted on newborns admitted to the neonatal intensive care unit in a Tertiary Care University Hospital between 2016 and 2019. Patients were classified into sepsis and control groups. Demographic characteristics and laboratory findings including RDW were analyzed. RDW was significantly higher in the sepsis group than in the control group (P=0.001). RDW had an area under the receiver operating characteristic curve of 0.799 for the diagnosis of sepsis. The sensitivity and specificity of an RDW value of 17.4% were found to be 60% and 88.3%, respectively (P=0.001). Multivariable logistic regression analysis showed a positive association of RDW with sepsis (odds ratio: 2.71; 95% confidence interval: 2.19-3.36; P=0.001). RDW value was significantly higher in neonatal sepsis and could be used as a useful alternative to other assessment tools as a readily available biomarker.

Early term delivery is associated with increased neonatal respiratory morbidity.

BACKGROUND: The recent increase in early term birth rates represents a growing challenge to public health given the association between early term birth and neonatal morbidities. We compared the risk of respiratory morbidity between early term and full-term infants. METHODS: This retrospective cohort population study included infants born at 37-41 weeks' gestation in a single tertiary care university hospital between 2014 and 2016. Newborns were categorized as early term (37-38 weeks) and full term (39-41 weeks). The primary outcome was respiratory morbidity. RESULTS: Of the 4,894 babies born at 37-41 weeks gestational age, 31% (n = 1,521) were early term births. The rate of cesarean deliveries, which were often elective, was higher for early term than for full-term newborns (P = 0.001). Compared with full-term newborns, early term newborns, had significantly higher risks of respiratory morbidity (13.2 % vs 6.3 %; odds ratio [OR], 2.28, P = 0.001), respiratory distress syndrome (0.5 % vs 0 %, P = 0.001), transient tachypnea of the newborn (11.2 % vs 4.6 %; OR, 2.72, P = 0.001), continuous positive airway pressure use (9.7 % vs 3.7 %; OR, 2.82, P = 0.001), and ventilation support (1.4% vs 0.4%; OR, 4.11, P = 0.001). CONCLUSIONS: The elevated frequency of respiratory morbidity in early term infants emphasizes the importance of early term birth interventions. More than half of the early term births were elective cesarean sections; interventions should therefore focus on reducing elective cesarean procedures at the time of first birth.

Secondary ion mass spectrometry imaging and multivariate data analysis reveal co-aggregation patterns of Populus trichocarpa leaf surface compounds on a micrometer scale.

Spatially resolved analysis of a multitude of compound classes has become feasible with the rapid advancement in mass spectrometry imaging strategies. In this study, we present a protocol that combines high lateral resolution time-of-flight secondary ion mass spectrometry (TOF-SIMS) imaging with a multivariate data analysis (MVA) approach to probe the complex leaf surface chemistry of Populus trichocarpa. Here, epicuticular waxes (EWs) found on the adaxial leaf surface of P. trichocarpa were blotted on silicon wafers and imaged using TOF-SIMS at 10 µm and 1 µm lateral resolution. Intense M+● and M-● molecular ions were clearly visible, which made it possible to resolve the individual compound classes present in EWs. Series of long-chain aliphatic saturated alcohols (C21 -C30 ), hydrocarbons (C25 -C33 ) and wax esters (WEs; C44 -C48 ) were clearly observed. These data correlated with the 7 Li-chelation matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) analysis, which yielded mostly molecular adduct ions of the analyzed compounds. Subsequently, MVA was used to interrogate the TOF-SIMS dataset for identifying hidden patterns on the leaf's surface based on its chemical profile. After the application of principal component analysis (PCA), a small number of principal components (PCs) were found to be sufficient to explain maximum variance in the data. To further confirm the contributions from pure components, a five-factor multivariate curve resolution (MCR) model was applied. Two distinct patterns of small islets, here termed 'crystals', were apparent from the resulting score plots. Based on PCA and MCR results, the crystals were found to be formed by C23 or C29 alcohols. Other less obvious patterns observed in the PCs revealed that the adaxial leaf surface is coated with a relatively homogenous layer of alcohols, hydrocarbons and WEs. The ultra-high-resolution TOF-SIMS imaging combined with the MVA approach helped to highlight the diverse patterns underlying the leaf's surface. Currently, the methods available to analyze the surface chemistry of waxes in conjunction with the spatial information related to the distribution of compounds are limited. This study uses tools that may provide important biological insights into the composition of the wax layer, how this layer is repaired after mechanical damage or insect feeding, and which transport mechanisms are involved in deploying wax constituents to specific regions on the leaf surface.

Macronutrient analysis of preterm human milk using mid-infrared spectrophotometry.

Background Human milk is the optimal source of nutrition for preterm infants. However, breast milk alone is often not sufficient to satisfy the high nutritional needs for growth and development in preterm infants. Fortified human breast milk is the best way to meet the nutritional needs of preterm infants. Human breast milk is fortified according to the estimated nutrient content of mature breast milk; however, because the content of breast milk is highly variable, the macronutrient support may be more or less than needed. The goal of this study was to analyze the macronutrient content of preterm human milk during the first 6 weeks of lactation. Methods The study included 32 mothers of preterm infants with a gestational age of ≤32 weeks. Breast milk was collected in 24-h cycles and analyzed daily using mid-infrared (MIR) spectroscopy. We measured protein, fat and lactose concentrations in the breast milk, and the energy content was calculated. Results The protein content was high during the first weeks of lactation, but decreased as lactation progressed. The fat, energy and lactose contents of the breast milk were low during the first 2 weeks of lactation, increased as lactation progressed and remained constant thereafter. In women with high body mass index (BMI), higher protein levels were found in transitional milk. In women who had high income level, higher fat and energy levels were found in transitional milk. Conclusion Our findings indicate that the macronutrient content of preterm breast milk changes throughout the course of lactation, with BMI and income level. Knowledge of the macronutrient composition of breast milk is necessary to ensure that preterm infants receive the appropriate types and quantities of nutrients to promote optimal growth, and to ensure that breast milk is fortified according to individual needs. Our findings may be useful for the provision of optimal nutritional support for preterm infants.

A Case Study of Intractable Diarrhea Due to Neonatal Microvillous Inclusion Disease.

BACKGROUND: Microvillous inclusion disease (MVID) is one of the most severe congenital diarrhea disorders, caused by a genetic defect in enterocyte differentiation and polarization. CASE REPORT: We describe a neonate who presented with severe weight loss, hypernatremic dehydration and metabolic acidosis due to intractable diarrhea due to MVID, confirmed by electron microscopy. CONCLUSION: MVID can present with severe weight loss, hypernatremic dehydration and metabolic acidosis that is life threatening. The diagnosis is made by typical findings on light microscopy and electron microscope of small bowel biopsies. The only therapeutic options at this time are total parenteral nutrition and bowel rest and intestinal transplantation.

Predictive value of soluble urokinase plasminogen activator receptor, soluble ST2, and IL-33 in bronchopulmonary dysplasia.

BACKGROUND: Bronchopulmonary dysplasia (BPD) remains an important complication of preterm births. The soluble form of ST2 (sST2), interleukin-33 (IL-33), and soluble form of the urokinase plasminogen activator receptor (suPAR) have attracted increasing attention as biomarkers for different diseases. The aim of the current study was to assess the predictive value of plasma sST2, IL-33, and suPAR levels in patients with risk of BPD development. METHODS: A total of 38 babies were studied prospectively on delivery to the neonatal intensive care unit. Serum levels of IL-33, sST2, and suPAR were measured using enzyme-linked immunosorbent assay. Serum samples were collected from umbilical cord (at the time of delivery, termed CB) and peripheral blood (on day 14, termed PB). RESULTS: Levels of suPAR (PB-suPAR) and sST2 (PB-sST2) in the peripheral blood of the BPD group were significantly higher than the corresponding levels in the non-BPD group (P < 0.001, P = 0.028, respectively. There was a statistically significant correlation between PB-suPAR levels and the severity of BPD (P < 0.001)) when the suPAR results were analyzed using the receiver operating characteristic curve. CONCLUSION: PB-suPAR and PB-sST2 levels are sensitive and specific independent predictive biomarkers in preterm babies with BPD.

Interaction of human plasma proteins with thin gelatin-based hydrogel films: a QCM-D and ToF-SIMS study.

In the fields of surgery and regenerative medicine, it is crucial to understand the interactions of proteins with the biomaterials used as implants. Protein adsorption directly influences cell-material interactions in vivo and, as a result, regulates, for example, cell adhesion on the surface of the implant. Therefore, the development of suitable analytical techniques together with well-defined model systems allowing for the detection, characterization, and quantification of protein adsorbates is essential. In this study, a protocol for the deposition of highly stable, thin gelatin-based films on various substrates has been developed. The hydrogel films were characterized morphologically and chemically. Due to the obtained low thickness of the hydrogel layer, this setup allowed for a quantitative study on the interaction of human proteins (albumin and fibrinogen) with the hydrogel by Quartz Crystal Microbalance with Dissipation Monitoring (QCM-D). This technique enables the determination of adsorbant mass and changes in the shear modulus of the hydrogel layer upon adsorption of human proteins. Furthermore, Secondary Ion Mass Spectrometry and principal component analysis was applied to monitor the changed composition of the topmost adsorbate layer. This approach opens interesting perspectives for a sensitive screening of viscoelastic biomaterials that could be used for regenerative medicine.

Postnatal weight gain and retinopathy of prematurity in preterm infants: a population-based retrospective cohort study.

OBJECTIVE: Infants who meet the screening guidelines for retinopathy of prematurity (ROP) based on birth weight and gestational age undergo serial ophthalmological examinations for its detection and treatment. However, <10% of patients require treatment, and less than half develop ROP. Poor postnatal weight gain has been reported to be a strong indicator of ROP development; however, the information regarding this is unclear. Therefore, this study aimed to determine the relationship between postnatal weight gain and ROP development in preterm infants. METHODS: The data of 675 preterm infants with gestational age ≤32 weeks, who were hospitalized in our neonatal intensive care unit, were obtained retrospectively from file records. The infants' demographic characteristics, clinical findings, and weekly weight gain (g/kg/day) during the first 8 weeks were recorded. The univariate was used to examine the risk factors for ROP followed by multivariate regression. RESULTS: The incidence of ROP in the infants included in the study was 41% (n = 278) and 13.3% (n = 37) of them required treatment. In the infants of the group that developed ROP, the mean birth weight and gestational age were significantly lower than those in the group that did not develop ROP (973 ± 288 and 1301 ± 349 g, p = 0.001 and 28.48 ± 1.95 and 30.08 ± 1.60 weeks, p = 0.001, respectively). As the gestational week and birth weight decreased, ROP development and the risk of ROP-requiring treatment increased. In the infants of the group that developed ROP, the mean weight gain in the postnatal third week was detected as significantly lower compared to those in the group that did not develop ROP (13.9 ± 8.2 and 15.4 ± 6.8 g, p = 0.034). On multiple logistic regression analysis, birth weight (<750 g) (odds ratio [OR], 8.67; 95% confidence interval [CI], 3.99-18.82, p = 0.001), blood transfusion (OR, 2.39; 95% CI, 1.34-4.24, p = 0.003), necrotizing enterocolitis (OR, 4.79; 95% CI, 1.05-26.85, p = 0.045), bronchopulmonary dysplasia (OR, 2.03; 95% CI, 1.22-3.36, p = 0.006), antenatal steroid therapy (OR, 1.60; 95% CI, 1.05-2.43, p = 0.028), surfactant administration (OR, 2.06; 95% CI, 1.32-3.2, p = 0.001) were independent risk factors for ROP development. CONCLUSION: Postnatal weight gain may not be an accurate predictor of ROP development after adjusting for confounding factors. However, the analysis of independent risk factors that influenced the development of ROP revealed a statistically significant effect in cases of low birth weight, blood transfusion, necrotizing enterocolitis, bronchopulmonary dysplasia, and antenatal steroid and surfactant therapies. These findings may help ophthalmologists and neonatologists to pay special attention to this patient group during ROP scanning.

Status epilepticus in children: causes, clinical features and short-term outcome.

BACKGROUND: We aimed to evaluate the cause, clinical profile, and short-term outcome of status epilepticus cases that were admitted to our pediatric emergency unit between 1 January and 31 December 2008. METHODS: We studied the clinical features of 59 seizures that occurred in 56 patients aged between 3 months and 15 years with the diagnosis of status epilepticus. We observed the clinical course and outcome of 53 cases for 6 to 18 months. The correlation between the cause of the seizure and the patient's age at the time of status epilepticus was evaluated as well as the correlation between the risk of seizure recurrence and family history of seizure, the neurological status of the patient prior to seizure and the presence of epilepsy. RESULTS: The most common cause of status epilepticus is febrile illness in children younger than 2 years and idiopathic/cryptogenic and remote symptomatic causes in children older than 2 years. The rate of recurrence of seizure was significantly higher in cases with existing neurological abnormalities, prior epilepsy and seizures with remote symptomatic causes. The most common triggering factors of status epilepticus development in cases with epilepsy were noncompliance for anti-epileptic drugs and infectious fever. CONCLUSIONS: In our study, the risk factors for seizure recurrence were the presence of prior epilepsy, existence of neurological abnormalities and remote symptomatic causes. We argue that improving the compliance of patients and their families to take medicine appropriately and training them in how to cope with febrile illnesses may decrease the recurrence of seizures.

Impact of sleep behaviors on social and emotional problems in three-year-old children born prematurely.

BACKGROUND: Childhood sleep problems have been associated with a number of negative health outcomes, but there is limited data on the relationship between sleep problems and social and emotional problems in preterm babies. OBJECTIVE: The aim of this study was to investigate sleep habits and the relationship between sleep problems and social and emotional problems in preterm infants with a corrected age of three years old. METHOD: The study included 40 preterm children and 40 full-term children. In order to evaluate the sleep habits and social and emotional problems of the children, their mothers completed the Brief Infant Sleep Questionnaire (BISQ) and the Brief Infant Toddler Social Emotional Assessment Scale (BITSEA) form. RESULTS: It has been found that preterm children had longer sleeplessness at night than full-term children and the frequency of night awakening was also higher in full-term children. There was no difference between preterm and full-term children in terms of sleep duration, sleep location and methods of falling asleep. Although there was no difference between the two groups in the BITSEA problem scores, the BITSEA competence scores were significantly lower in preterm children compared to full-term children. In addition, considering the relationship between sleep behaviors and social and emotional problems in preterm infants, a significant correlation was found between short sleep duration at night, total sleep duration, and lower BITSEA competence scores. A late sleep time and social and emotional subclinical problem scores were also found to be correlated. CONCLUSION: According to the results of this study, no significant difference was found in terms of sleep behaviors between preterm and full-term three-year-old children. However, BITSEA competence scores were lower in preterm children and an association has been found between sleep behaviors and social and emotional problems.

Effects of Targeted Versus Adjustable Protein Fortification of Breast Milk on Early Growth in Very Low-Birth-Weight Preterm Infants: A Randomized Clinical Trial.

BACKGROUND: Breast milk is preferred for the feeding of very low-birth-weight (VLBW) infants, but it does not meet nutrition requirements unless it is fortified. Adequate protein intake to maintain the growth of preterm infants cannot be provided by standard fortification methods because of variation in the protein content of human milk. Individualization is necessary to achieve target protein intakes. The goal of this study was to compare the effects of 2 different methods of individualized protein fortification of breast milk on the early growth of VLBW preterm infants. METHODS: In a prospective observational study, VLBW preterm infants ≤32 weeks of gestational age were randomized into 2 groups according to the method of breast milk fortification. Anthropometric measurements were performed in both groups weekly for 4 weeks to compare their growth. RESULTS: During the trial period, the daily protein intake (targeted vs adjustable fortification groups) was (median [range]) 4.5 (4.4-4.6) vs 4.01 (3.5-4.4) g/kg/d (P = 0.001); the daily weight gains (g/d and g/kg/d; mean ± SD) were 25.7 ± 3.9 vs 22.2 ± 6.4 g/d (P = 0.048) and 23.1 ± 4.3 vs 18.7 ± 4.3 g/kg/d (P = 0.014); and the weekly increase in head circumference was 9.8 ± 1.5 vs 8.4 ± 2.1 mm/wk (P = 0.040). All parameters were significantly higher in the targeted than the adjustable fortification group. CONCLUSIONS: Individualized protein fortification using the targeted method for VLBW preterm infants had more positive effects on short-term growth compared with the adjustable fortification method.

Impacts of phototherapy on DNA damage and total oxidant/ antioxidant status in jaundiced newborns.

Bulut Ö, Dürüyen S. Impacts of phototherapy on DNA damage and total oxidant/antioxidant status in jaundiced newborns. Turk J Pediatr 2019; 61: 697-703. Jaundice is common in newborn babies, and pathologic hyperbilirubinemia is frequently treated with phototherapy. Although it is considered to be safe, the side effects of phototherapy in newborns are still a matter of debate. In this study, the impacts of two types of phototherapy, conventional fluorescence and intensive light-emitting diodes (LED), on DNA damage and total oxidant/ antioxidant status in jaundiced newborns were assessed. The study group included 40 newborns (gestation age ≥ 37 weeks) on days 2-8 after birth. Newborns were divided into two groups on the basis of need for phototherapy: 20 newborns were exposed to conventional phototherapy (Group I); and 20 infants were exposed to intensive phototherapy (Group II). Blood samples were taken from all infants at admission and after phototherapy to determine plasma 8-hydroxy-2-deoxy-guanosine (8-OH-dG; a marker of DNA damage), total oxidant status (TOS), and total antioxidant capacity (TAC). The oxidative stress index (OSI) was also calculated. Demographic information was recorded, and DNA damage, TOS, and TAC were compared. There were no differences in demographic information between the two groups. There were no significant differences in DNA damage, TOS, TAC, and OSI between Groups I and II before phototherapy (p > 0.05) and no significant differences in DNA damage, TOS, TAC, and OSI between the two groups after phototherapy (p > 0.05). However, the TAC decreased significantly in both groups after phototherapy (p < 0.01). These findings suggest that conventional and intensive phototherapies do not affect DNA damage and oxidative stress, supporting the safety of its use as the preferred treatment for jaundiced newborns.

Retrospective Evaluation of Perinatal and Early Neonatal Outcomes in Infants of Migrant Mothers: A Case-Controlled Study.

OBJECTIVE: To investigate the incidence of perinatal features and neonatal morbidities in migrant mothers in comparison with native Turkish mothers. METHOD: A retrospective analysis was conducted using the medical records of 89 infants born to Syrian immigrants and 89 infants born to native Turkish mothers who were consecutively admitted to the neonatal intensive care unit of our hospital between 2015 and 2019. Statistical analyses were used to compare demographic data and perinatal and neonatal outcomes between the two groups. RESULTS: Compared to Turkish mothers, Syrian mothers were significantly younger and adolescent pregnancy rate was significantly higher (p<0.01). The rates of multiple pregnancy, consanguineous marriage, and prolonged premature membrane rupture were also significantly higher in Syrian mothers (p<0.05). The incidence rates of congenital anomalies, respiratory distress syndrome, transient tachypnea of newborn pneumonia/bronchiolitis, sepsis, jaundice, and feeding problems were the same for infants born to Syrian and Turkish mothers (p>0.05). In addition, the two groups did not differ with respect to gestational week at birth, birth weight, sex, types of delivery, Apgar score, duration of hospital stay, and incidence of infant mortality (p>0.05). CONCLUSION: The immigrant status negatively affects perinatal and neonatal outcomes. However, the incidence rates of infant mortality and neonatal morbidity did not differ between infants born to Syrian and those born to Turkish mothers. This may be due to the recent improvements in the of overall health status of migrant women or of those migrants living in Turkey being able to have access to increased prenatal and postnatal period policies of mother-child health services which have been successfully implemented.

Prenatal thrombosis of renal veins and the inferior vena cava in a newborn with double heterozygosity for the factor V Leiden and prothrombin gene G20210A mutations: a case report.

: Renal vein thrombosis in a neonate is a rare but well recognized condition with low mortality but high morbidity. The cause has not been explained clearly yet but is probably a multifactorial process that includes inherited prothrombotic abnormalities. Antenatal onset of renal vein thrombosis is important due to the increased risk for permanent organ damage. We report a case of prenatal thrombosis of the renal veins and the inferior vena cava in a newborn with double heterozygosity for factor V Leiden and prothrombin gene mutations who had persistently impaired renal function requiring chronic peritoneal dialysis.

Asymptomatic intracranial hemorrhage in a newborn with congenital factor VII deficiency and successful treatment with recombinant activated factor VII.

Ince Z, Bulut Ö, Tugrul-Aksakal M, Ünüvar A, Devecioglu Ö, Çoban A. Asymptomatic intracranial hemorrhage in a newborn with congenital factor VII deficiency and successful treatment with recombinant activated factor VII. Turk J Pediatr 2018; 60: 562-565. Intracranial hemorrhage is considered the most common cause of death in newborns with congenital factor VII (FVII) deficiency. Recombinant activated FVII (rFVIIa) provides specific replacement therapy, however there is limited experience with its neonatal use. We describe our experience about the treatment of intracranial hemorrhage in a newborn with congenital FVII deficiency and emphasize the importance of imaging in asymptomatic patients. She presented with ecchymoses on her skin, no other pathological clinical signs, prolonged PT, normal PTT and FVII activity of 2%. Intracranial hemorrhage was diagnosed while screening for internal bleedings. Treatment with rFVIIa resulted in stabilization and regression of the hematoma.

Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features.

Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant disorder that results in facial dysmorphism, multiple congenital anomalies, and an increased risk of malignancy. Recently, using exome sequencing, de novo heterozygous mutations in the SETBP1 gene have been identified in patients with SGS. Most affected individuals do not survive after childhood because of the severity of this disorder. Here, we report SETBP1 mutation confirmed by molecular analysis in a case of SGS with congenital megacalycosis.

Treatment of chylothorax developed after congenital heart disease surgery: a case report.

Chylothorax is defined as the accumulation of lymphatic fluid or chyle in the pleural space. Chylothorax treatment is composed of conservative; pleural drainage, termination of enteral feeding, total parenteral nutrition and supplementation with medium- chain triglycerides and surgical therapies; ductus thoracicus ligation, pleuroperitoneal shunts or pleuredesis. Nowadays, for cases among which conservative therapies fail, treatment with octreotide has been reported to be beneficial with promising results. A neonate who developed chylothorax after surgery performed for congenital heart disease was treated successfully with octreotide.