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Abstract Background Transient tachypnea of the newborn (TTN), which is the most common respiratory disease in the neonatal period, increases respiratory workload in newborns. We purposed to evaluate the oxidative stress (OS) status and thiol disulfide hemostasis in late preterm and term newborns with TTN in this study. Methods The study was carried out in a single-centre neonatal intensive care unit to investigate the effect of continuous airway positive pressure (CPAP) on the oxidative system in newborns with TTN. Thiol (native and total) and disulfide levels, total antioxidant and oxidant status (TAS/TOS) and Oxidative stress index (OSI) levels were measured. Results Total thiol levels measured before treatment was 429.5 (369.5–487) µmol/L in the late preterm group and 425 (370–475) µmol/L in the term group (p = 0.741). We found significant changes in TOS, OSI and TAS levels after CPAP treatment in the late preterm group (p

INTRODUCTION: Although it has different mortality and morbidity rates all over the world, childhood poisoning has an important place among childhood health problems. The increase in health expenditures, retention time and loss of labor caused by poisonings cause the problem not only to be medical but also social aspects. METHODS: In addition to demographic data of 1043 pediatric patients admitted to our hospital with poisoning complaints, pre-admission intervention, place of poisoning, admission time, agent and time of poisoning, time elapsed after poisoning, admission findings, hospitalization period, diagnostic tests applied and treatment modalities were evaluated retrospectively with their prognosis. RESULTS: Of the 1043 cases, 54.5% were female. Female ratio increased to 82% in 139 suicides. When the causes of poisoning is examined, 47.2% were related to drugs, 41.5% were industrial and 5.4% were agricultural products, 2.7% due to CO, 2.6% were depending on the food,0.5% due to unknown factors and 0.2% occured with animal bites. Gastric-lavage, activated-charcoal, intravenous-fluid regimen (33%) was the most common treatment. Two of the three mortal cases were due to colchicine. DISCUSSION AND CONCLUSION: Although the development in the diagnosis and treatment of poisonings is pleasing, the most accurate approach to this issue will be to increase the protective measures. In addition to these standard measures, each country should set priorities in line with its own epidemiological study. Regarding the higher mortality rate (22%) we may suggest that clinicians should be more careful and aggressive in the diagnosis and treatment of colchicine intoxications, which can be associated with mortality even at low doses.

Abstract Background Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused by homozygous or compound heterozygous mutations in the integrin alpha 6 (ITGA6) gene on chromosome 2q31.1 or in the integrin beta 4 (ITGB4) gene on 17q25.1. Case presentation A male premature infant was born with aplasia cutis, atresia of the pylorus, and bilateral hydronephrosis. His clinical and imaging findings were compatible with EB-PA. A novel, small deletion of the last two bases in exon 6 and the first two nucleotides of intron 6 (c.565_566+2del) in ITGB4 gene was identified. Conclusion EB-PA-aplasia cutis congenita is known to be a non-treatable condition with a poor prognosis as the reported case. The novel mutation reported in this patient may lead to the lethal form of this disease. Identification of underlying genetic abnormality is critical to give genetic counseling.

BackgroundTo achieve gas exchange goals and mitigate lung injury, infants who fail with conventional ventilation (CV) are generally switched to high-frequency oscillatory ventilation (HFOV). Although preferred in many neonatal intensive care units (NICUs), research on this type of rescue HFOV has not been reported recently.MethodsAn online registry database for a multicenter, prospective study was set to evaluate factors affecting the response of newborn infants to rescue HFOV treatment. The study population consisted of 372 infants with CV failure after at least 4 hours of treatment in 23 participating NICUs. Patients were grouped according to their final outcome as survived (Group S) or as died or received extracorporeal membrane oxygenation (ECMO) (Group D/E). Patients' demographic characteristics and underlying diseases in addition to their ventilator settings, arterial blood gas (ABG) analysis results at 0, 1, 4, and 24 hours, type of device, ventilation duration, and complications were compared between groups.ResultsHFOV as rescue treatment was successful in 58.1% of patients. Demographic and treatment parameters were not different between groups, except that infants in Group D/E had lower birthweight (BW) (1655 ± 1091 vs. 1858 ± 1027 g, p = 0.006), a higher initial FiO2 setting (83% vs. 72%, p < 0.001), and a higher rate of nitric oxide exposure (21.8% vs. 11.1%, p = 0.004) in comparison to infants who survived (Group S). The initial cut-offs for a successful response on ABG were defined as pH >7.065 (OR: 19.74, 95% CI 4.83-80.6, p < 0.001), HCO3 >16.35 mmol/L (OR: 1.06, 95% CI 1.01-1.1, p = 0.006), and lactate level 0.05).ConclusionRescue HFOV as defined for this population was successful in more than half of the patients with CV failure. Although the response was not associated with gestational age, underlying disease, device used, or initial MV settings, it seemed to be more effective in patients with higher BW and those not requiring nitric oxide. Initial pH, HCO3, and lactate levels on ABG may be used as predictors of a response to rescue HFOV.

Neonatal jaundice (NNJ) is common, but few root cause analyses based on national quality registries have been performed. An online registry was established to estimate the incidence of NNJ in Turkey and to facilitate a root cause analysis of NNJ and its complications.A multicenter prospective study was conducted on otherwise healthy newborns born at ≥35 weeks of gestation and hospitalized for only NNJ in 50 collaborator neonatal intensive care units across Turkey over a 1-year period. Patients were analyzed for their demographic and clinical characteristics, treatment options, and complications.Of the 5,620 patients enrolled, 361 (6.4%) had a bilirubin level ≥25 mg/dL on admission and 13 (0.23%) developed acute bilirubin encephalopathy. The leading cause of hospital admission was hemolytic jaundice, followed by dehydration related to a lack of proper feeding. Although all infants received phototherapy, 302 infants (5.4%) received intravenous immunoglobulin in addition to phototherapy and 132 (2.3%) required exchange transfusion. The infants who received exchange transfusion were more likely to experience hemolytic causes (60.6% vs. 28.1%) and a longer duration of phototherapy (58.5 ± 31.7 vs. 29.4 ± 18.8 h) compared to infants who were not transfused (p < 0.001). The incidence of short-term complications among discharged patients during follow-up was 8.5%; rehospitalization was the most frequent (58%), followed by jaundice for more than 2 weeks (39%), neurological abnormality (0.35%), and hearing loss (0.2%).Severe NNJ and bilirubin encephalopathy are still problems in Turkey. Means of identifying at-risk newborns before discharge during routine postnatal care, such as bilirubin monitoring, blood group analysis, and lactation consultations, would reduce the frequency of short- and long-term complications of severe NNJ.

ObjectiveThe objective of this study was to evaluate the efficacy and safety of isotonic and hypotonic intravenous fluids in maintenance fluid therapy for term infants.MethodsThis was a multi-centre, prospective, observational study conducted in 21 participating centres from December 30, 2020, to June 30, 2023. The study included term newborns requiring parenteral fluid therapy for maintenance (NCT04781361). The fluid treatment was divided into two groups based on the concentration of sodium in the parenteral fluid, designated as hypotonic (NaCl 145 mmol/L), and the occurrence of clinically significant changes in sodium levels (∆pNa >0.5 mmol/L/h).ResultsA total of 420 patients from 21 centers were included. The ∆pNa was negative in the hypotonic fluid group and positive in the isotonic fluid group, with a significant difference between the groups [respectively −0.07 ± 0.03 (95% CI: −0.13 to −0.02); 0.04 ± 0.03 (95%CI: −0.02 to 0.09), p = 0.04]. There was no difference between the groups in terms of the development of hypernatremia or a clinically meaningful pNa increase. The hypotonic fluid group had a higher incidence of hyponatremia and a clinically meaningful sodium decrease compared to the isotonic fluid group [7.9% vs. 1.2% (OR:6.5, p:0.03)] and [12.2% vs.4.2% (OR:2.9, p = 0.03)].ConclusionContrary to current understanding, this large-scale study is the first to demonstrate that the use of hypotonic fluids in maintenance fluid therapy for newborns poses a risk of hyponatremia development, whereas isotonic fluid therapy appears safe.

The genetic cause of 46, XY disorder of sex development (DSD) still cannot be determined in about half of the cases. GATA-4 haploinsufficiency is one of the rare causes of DSD in genetic males (46, XY). Twenty-two cases with 46, XY DSD due to GATA-4 haploinsufficiency (nine missense variant, two copy number variation) have been previously reported. In these cases, the phenotype may range from a mild undervirilization to complete female external genitalia. The haploinsufficiency may be caused by a sequence variant or copy number variation (8p23 deletion). The aim of this study was to present two unrelated patients with DSD due to GATA-4 variants and to review the phenotypic and genotypic characteristics of DSD cases related to GATA-4 deficiency.

Purpose: Urgent treatment in newborns with severe hyperbilirubinemia is the removal of bilirubin from the body by exchange transfusion (ET) as the main treatment modality. The aim of this study was to evaluate the outcomes of newborns with severe hyperbilirubinemia who underwent ET in two neonatal ıntensive care units (NICUs). Materials and Methods: The clinical data were collected of 28 newborns who had undergone rescue exchange transfusions after hospitalization with a diagnosis of severe hyperbilirubinemia in NICUs of a university hospital and a state hospital. Results: Evaluation was made of 28 newbons with a median serum bilirubin level on admission of 31.2 (20.3-36.8) mg/dL. The leading cause for exchange transfusion was hemolytic jaundice (67.8%), followed by inadequate feeding (14%). The most common cause of hyperbilirubinemia was Rh incompatibility. The reported rate of adverse events associated with exchange transfusion was 71%. The most common complications due to ET were thrombocytopenia and anemia. Four infants died after the ET therapy. Acute bilirubin encephalopathy (ABE) was detected in 39% of the newborns. Serum bilirubin and bilirubin/albumin ratios were found to be high in newborns with ABE. Conclusion: Newborns with severe hyperbilirubinemia, especially when related to hemolytic jaundice, may need rescue ET. As newborns with severe hyperbilirubinemia with a high bilirubin/albumin ratio are at risk of ABE, ET should be considered in these cases

Objective:Late neonatal hypocalcemia (LNH) is a common metabolic problem associated with hypoparathyroidism, high phosphate intake and vitamin D deficiency, often presenting with seizures. In this cross-sectional study, we aimed to evaluate the role of vitamin D deficiency in LNH in Turkey and to describe the characteristics of affected newborns.Methods:Conducted with a cross-sectional design and with the participation of 61 neonatal centers from December 2015 to December 2016, the study included term neonates with LNH (n=96) and their mothers (n=93). Data were registered on the FAVOR Web Registry System. Serum samples of newborns and mothers were analyzed for calcium, phosphate, magnesium, albumin, alkaline phosphatase, intact parathyroid hormone (iPTH) and 25 hydroxyvitamin D [25(OH)D] levels.Results:The median (range) onset time of hypocalcemia was 5.0 (4.0-8.0) days of age, with a male preponderance (60.4%). The median (range) serum 25(OH)D levels of the neonates and their mothers were 6.3 (4.1-9.05) and 5.2 (4.7-8.8) ng/mL, respectively. The prevalence of vitamin D deficiency (

Systemic pseudohypoaldosteronism (PHA) is a rare, salt-wasting syndrome that is caused by inactivating variants in genes encoding epithelial sodium channel subunits. Hyponatremia, hyperkalemia, metabolic acidosis, increased aldosterone and renin levels are expected findings in PHA. Clinical management is challenging due to high dose oral replacement therapy. Furthermore, patients with systemic PHA require life-long therapy. Here we report a patient with systemic PHA due to SCNN1B variant whose hyponatremia and hyperkalemia was detected at the 24th hour of life. Hyperkalemia did not improve with conventional treatments and dialysis was required. He also developed myocarditis and hypertension in follow-up. Challenges for diagnosis and treatment in this patient are discussed herein. In addition, published evidence concerning common features of patients with SCNN1B variant are reviewed.