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Introduction: Glutathione synthetase (GSS) deficiency is an autosomal recessive disorder (frequency < 1/1,000,000) with different varyingly severe clinical manifestations that include metabolic aci...

Purpose: This study was performed to determine whether one drop of topical administration of Coqun® (Coenzyme Q10 and Vitamin E)-a potent antioxidant-twice a day has any effect on the thiol-disulphide homeostasis-a novel oxidative stress marker in the Retinopathy Of Prematurity (ROP) disease course. Methods: This was a prospective observational study comprising 28 infants with ROP at stage 2 and higher who followed up at the paediatric intensive care unit. Ferric reducing power of plasma (FRAP), albumin, ischemia-modified albumin (IMA) and thiol disulphide homeostasis levels were studied in the infants before and two weeks after Coqun® treatment. Results: The mean gestational age was 27 (24–32) weeks, the mean birth weight was 1,012±326 g and the mean duration of care in an incubator was 64±23 days. FRAP levels were 0.91±0.17 μmol/L, IMAs were 0.85±0.29, native thiols were 248±38.9 μmol/L and total thiols were 284±39.2 μmol/L, respectively, at the beginning of therapy. FRAP levels 0.79±0.21(p= 0.006) μmol/L, IMAs 0.73±0.36(p = 0.096), native thiols 262±42.6(p = 0.164) μmol/L and total thiols 291±43.6(p = 0.344) μmol/L showed no difference after two weeks of therapy. Conclusion: Thiol disulphide homeostasis levels do not change with Coqun® therapy during ROP course.

GIRIS: Prematurelerde postnatal CMV (sitomegalovirus) enfeksiyonu en sik enfekte anne sutu alimi ile kazanilmaktadir. Diger bulas yollari perinatal donemde genital sekresyonlar ve kan transfuzyonudur. Tani postnatal 3. haftadan sonra idrar, kan ve sekresyonlarda PCR ya da kultur ile virusun izole edilmesine dayanmaktadir. Term olgularda enfeksiyon cogunlukla asemptomatiktir. Prematurelerde CMV iliskili klinik bulgu ve sepsise neden olabilir. Premature olgularda CMV iliskili sepsis az sayida bildirilmistir. OLGU SUNUMU: Olgularimizin her ikisi de 1000 gr altinda premature idi. C/S ile dogmuslardi. Premature formulasi ile beslenmisler, lokosit filtresi kullanilarak coklu eritrosit suspansiyonu transfuzyonu almislardi. Izlemlerinin 2. ayinda birinci olguda beslenme intoleransi ve splenomegali, ikinci olguda oksijen ihtiyacinda artma ve invaziv ventilasyon ihtiyaci gelisti. Laboratuvar bulgularinda her iki olguda karaciger fonksiyon testlerinde yukselme, kolestaz, trombositopeni ve akut faz yuksekligi saptandi. Kan CMV IgM ve CMV DNA PCR pozitif bulundu. Gansiklovir baslandi. Birinci olgunun 2, ikinci olgunun alti hafta sonunda klinik ve laboratuvar bulgulari duzeldi. Izlemlerinde norolojik sekel ya da isitme kaybi gelismedi. TARTISMA: Prematurelerde, 3. haftadan sonra gelisen sepsis nedeni olarak postnatal CMV enfeksiyonu akilda tutulmalidir. ABSTRACT INTRODUCTION: Postnatal CMV (cytomegalovirus) infection in the premature infants is most often transmitted with infected breast milk. The other routes of transmission are blood transfusion and genital secretions. Diagnosis is made by PCR or viral culture of urine, blood, or other body secretions after the first 3 weeks of life. It is mostly asymptomatic in term infants. CMV infection may cause sepsis and many clinical signs in premature infants. There are a few reports of premature infants with CMV sepsis in the literature. CASE REPORTS: Both of our cases were premature infants weighing less than 1000 g and born with ceaserean section. Since both of the mothers did not have breast milk, infants were fed with premature formula. They were transfused with erythrocyte suspension more than once. The first case has developed feeding intolerance and splenomegaly, the second case had increased oxygen demand and invasive mechanical ventilation support at the end of the second month of life. Laboratory findings showed cholestasis, thrombocytopenia, elevated transaminases and acute phase reactants. Blood CMV IgM and CMV DNA PCR were positive in both cases. Ganciclovir treatment was started. The first case had improvement in clinical and laboratory findings in 2 weeks, the second case had improvement in 6th week of the treatment. None of the patiens developed neurological sequelae or hearing loss. CONCLUSION: We aimed to remind that postnatal CMV infection should be suspected in preterm infants who developed sepsis later than fist 3 weeks of life.

Beken, Serdar/0000-0002-8609-2684; BAS, AHMET YAGMUR/0000-0002-1329-2167; Bulbul, Ali/0000-0002-3510-3056; Karatekin, Guner/0000-0001-7112-0323, WOS: 000534242500056, PubMed: 31851725, Objective To investigate the early neonatal outcomes of very-low-birth-weight (VLBW) infants discharged home from neonatal intensive care units (NICUs) in Turkey. Material and methods A prospective cohort study was performed between April 1, 2016 and April 30, 2017. the study included VLBW infants admitted to level III NICUs. Perinatal and neonatal data of all infants born with a birth weight of.1500 g were collected for infants who survived. Results Data from 69 NICUs were obtained. the mean birth weight and gestational age were 1137 +/- 245 g and 29 +/- 2.4 weeks, respectively. During the study period, 78% of VLBW infants survived to discharge and 48% of survived infants had no major neonatal morbidity. VLBW infants who survived were evaluated in terms of major morbidities: bronchopulmonary dysplasia was detected in 23.7% of infants, necrotizing enterocolitis in 9.1%, blood culture proven late-onset sepsis (LOS) in 21.1%, blood culture negative LOS in 21.3%, severe intraventricular hemorrhage in 5.4% and severe retinopathy of prematurity in 11.1%. Hemodynamically significant patent ductus arteriosus was diagnosed in 24.8% of infants. Antenatal steroids were administered to 42.9% of mothers. Conclusion the present investigation is the first multicenter study to include epidemiological information on VLBW infants in Turkey. Morbidity rate in VLBW infants is a serious concern and higher than those in developed countries. Implementation of oxygen therapy with appropriate monitoring, better antenatal and neonatal care and control of sepsis may reduce the prevalence of neonatal morbidities. Therefore, monitoring standards of neonatal care and implementing quality improvement projects across the country are essential for improving neonatal outcomes in Turkish NICUs., Turkish Neonatal Society [2-2016]; Turkish Neonatal Society, This study was supported by the Turkish Neonatal Society, http://www.neonatology.org.tr, number 2-2016, received by AYB. Turkish Neonatal Society funded the study's online registry system. the funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Prune belly syndrome is a rare congenital disorder defined by a characteristic clinical triad: Abdominal muscle deficiency, severe urinary tract abnormalities, and bilateral cryptorchidism. We describe a preterm neonate of Prune Belly syndrome who had abdominal muscle deficiency, multicystic dysplastic kidney, urethral hypoplasia and pulmonary hypoplasia. We presented this rare case with the data gathered from the literatüre.

Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) is an extremely rare combination of serious defects, which was firstly described by Carey and colleagues. Surgical repair of cloacal exctrophy in patients with OEIS complex can be performed at one stage, but it can also be performed safely as staged to minimize the potential complications. In this case report, we aimed to present our early approach to the OEIS complex.

Background and Objective: It is essential to establish optimum parameters for maintaining the quality of stored milk until the moment of consumption with minimal deterioration of its properties. The aim of the study was to evaluate total antioxidant capacity (TAC) and total oxidation status (TOS) of fresh and freeze-stored samples (at −80 ◦ C) of preterm human milk (HM). Methods: Samples of colostrum were collected from 98 healthy women within the first 4 days after delivery. The total milk volume collected (6 ml) was divided in two aliquot parts: 3 ml for the fresh analysis which was done immediately after the extraction and 3 ml for storage under freezing conditions at −80 ◦ C for three months. The

Objective To investigate the effectivity of pentoxifylline (PTX) and immunoglobulin M (IgM)-enriched intravenous immunoglobulin (IVIG) therapy in the treatment of neonatal sepsis (NS), alone or in combination. Study design This was a prospective, double-blind, controlled study. Newborns with suspicion of sepsis were enrolled in the study. The patients were separated into four groups according to treatment protocol: Group 1 = placebo, Group 2 = pentoxifylline, Group 3 = IgM-enriched IVIG, and Group 4 = pentoxifylline + IgM-enriched IVIG. Blood samples were taken for C-reactive protein, interleukin-6, neutrophil CD64 expression, and tumor necrosis factor-alfa measurements immediately before treatment (1st day), and measurements were repeated on the 2nd and 4th days of the therapy. Results A total of 204 patients, 51 in each group, were recruited into the study. There were no significant differences for symptoms of sepsis among groups, except lethargy. No significant differences were observed among the groups according to laboratory data. Overall mortality rate was 8.8%. The rates of morbidities and mortality among study groups were similar. Conclusion PTX and IgM-enriched IVIG therapies, either alone or in combination, did not reduce the rates of morbidities and mortality in NS.

In this study, pulse oximetry screening results in the early diagnosis of critical congenital heart diseases (CCHD) will be evaluated.Eight-thousand two-hundred and eight of 10,200 newborns born between January 2014 and December 2014 were screened using pulse oximetry for the diagnosis of CCHD. Screening test was considered to be positive in the newborns whose saturation after 24 h from the birth with pulse oximetry was ≤ 95% and/or in the newborns who had a difference of ≥ 3% between the lower and right upper extremity.Incidence of CCHD was 1 per 1000 live births. Coarctation of the aorta was the most commonly determined CCHD. Sensitivity, specificity, false negative rate and false positive rate of pulse oximetry in the diagnosis of CCHD were 60%, 99.8%, 40% and 0.12%, respectively. Seventy-five percent of the newborns who had a false negative diagnosis with pulse oximetry had coarctation of the aorta. Coarctation of the aorta was determined at a rate of 20% using CCHD screening.The diagnosis of coarctation of the aorta is missed in the newborns screened with pulse oximetry in the first 24-48 h after birth. Screening with pulse oximetry should be repeated for early diagnosis of coarctation of the aorta.

Introduction: While the routine administration of Rhesus immunoglobulin has significantly reduced the incidence of this type of alloimmunization, maternal alloimmunization to other red cell antigens continues to contribute to perinatal morbidity and mortality. Although the Kell antigen is found on the red cells of only 9% of the population, attention has increasingly been focused on Kell antibodies. Case Report: We present a case of fetal hydrops who was sonographically detected at 30th week of pregnancy. Antenatal tests for evaluation of fetal condition clearly showed the critical level of hemolytic disease but the baby was delivered prematurely due to fetal distress. The combination of anemia, reticulocytopenia, hydrops fetalis, and positive indirect Coombs test suggested Kell isoimmunization. The baby was treated by exchange transfusion with the Kell-negative packed red cell succesfully, and was discharged on postnatal 30th day. Conclusion: Here we describe a case of hydrops fetalis caused by Kell alloimmunization that was determined in postnatal period, and thus we plan to discuss the perinatal approach to the Kell immunization.

Pulmonary sequestration is acystic or solid congenital lung malformation comprised of non functional lung tissue that does not communicate with the normal tracheobronchial tree and has a systemic arterial blood supply. There are two forms of sequestration: intralobar and extralobar. Its treatment is surgical resection. Here we presented a case of premature neonate with extralobar pulmonary sequestration who had respiratory failure and recurrent pulmonary hemorrhage. Following surgery, the patient showed significant clinical improvement.El secuestro pulmonar es una malformación pulmonar congenita, quística o sólida, compuesta de tejido pulmonar no funcional sin conexión con el árbol traqueobronquial y que recibe sangre arterial de la circulación sistemica. Existen dos formas de secuestro: intralobular y extralobular. El tratamiento se realiza mediante resección quirúrgica. Se describe el caso de un recién nacido prematuro con secuestro pulmonar extralobular que presentó insuficiencia respiratoria y hemorragia pulmonar recurrente. Luego de la cirugía, el paciente mejoró en forma clínicamente significativa.

To test the efficacy of probiotic and prebiotic, alone or combined (synbiotic), on the prevention of necrotizing enterocolitis (NEC) in very low birth weight (VLBW) infants.A prospective, randomized, controlled trial was conducted at 5 neonatal intensive care units in Turkey. VLBW infants (n = 400) were assigned to a control group and 3 study groups that were given probiotic (Bifidobacterium lactis), prebiotic (inulin), or synbiotic (Bifidobacterium lactis plus inulin) added to breastmilk or formula for a maximum of 8 weeks before discharge or death. The primary outcome was NEC (Bell stage ≥2).The rate of NEC was lower in probiotic (2.0%) and synbiotic (4.0%) groups compared with prebiotic (12.0%) and placebo (18.0%) groups (P.001). The times to reach full enteral feeding were faster (P.001), the rates of clinical nosocomial sepsis were lower (P = .004), stays in the neonatal intensive care unit were shorter, (P = .002), and mortality rates were lower (P = .003) for infants receiving probiotics, prebiotics, or synbiotic than controls. The use of antenatal steroid (OR 0.5, 95% CI 0.3-0.9) and postnatal probiotic (alone or in synbiotic) (OR 0.5, 95% CI 0.2-0.8) decreased the risk of NEC, and maternal antibiotic exposure increased this risk (OR 1.9, 95% CI 1.1-3.6).In VLBW infants, probiotic (Bifidobacterium lactis) and synbiotic (Bifidobacterium lactis plus inulin) but not prebiotic (inulin) alone decrease NEC.

Konjenital hipofiz hormon eksikligi neonatal kolestazin sik olmayan nedenidir. Yenidogan doneminde klinik bulgulari kolestaz ve hipoglisemidir. Sezeryan ile, 37 haftalik, 3700 gr dogan kiz bebekte postnatal birinci hafta hipoglisemi, 3. haftada kolestaz bulgulari gelisti. Coklu hipofiz hormon eksikligi saptandi. Buyume hormonu tedavisi ile kolestaz bulgulari duzeldi. Konjenital hipofiz hormon eksikligi, hipoglisemi ve kolestazi olan yenidoganlarda ayirici tanida akilda tutulmalidir.

Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hydrops, neurological signs occur in the first week of life and lead to death within 3 months. Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. To the best of our knowledge, this is the first case homozygous for the GBA R463H mutation resulting in Gaucher disease with a concomitant homozygous MTHFR C677T mutation.

Introduction: Neonatal polycythemia may result in increased cytokine production. We aimed to investigate whether polycythemia and partial exchange transfusion (PET) affect interleukin-6 (IL-6) response pattern in early neonatal period. Methods: Ninety-four newborns, 57 with polycythemia (Group 1) and 37 as control group (Group 2) were enrolled in the study. PET was performed at 4–6 hr following birth in the first group. Blood levels of IL-6 were measured at 2–4 hr following birth; measurements were repeated at 6 and 24 hr after PET in newborns with polycythemia and at similar hours in Group 2. In Group 1, two patients (3.5%) who were diagnosed with proven sepsis excluded from the study. Results: Both initial and the last IL-6 levels were higher in Group 1 (21.7; 5.5–190 pg/ml and 18.3; 2.7–92.4 pg/ml) than those of the controls (8.4; 0.2–47.8 pg/ml and 8.6; 2.0–21.0 pg/ml) (P=0.001 for both comparisons). In Group 1, IL-6 levels increased at 6 hr after PET and decreased thereafter. IL-6 showed the same pattern in the control group. IL-6 levels were higher than >70pg/ml in two (3.6%), seven (12.7%), and two (3.6%) subjects during three evaluation steps, respectively. Neither clinical nor proven sepsis was subsequently detected in any of these subjects. IL-6 levels were within the acceptable values in Group 2. Conclusion: IL-6 levels seem to be high in newborns with polycythemia during the first days of life, although they rarely exceed maximum acceptable levels. The pattern of IL-6 response might be taken into account to optimize its use in the diagnosis of early-onset neonatal sepsis. J. Clin. Lab. Anal. 24:340–347, 2010. © 2010 Wiley-Liss, Inc.

In children, any ureter greater than 7 mm in diameter is considered a megaureter based on measurements in fetuses greater than 30 weeks gestation and children