An observational, multicenter, registry-based cohort study of Turkish Neonatal Society in neonates with Hypoxic ischemic encephalopathy.

BACKGROUND: Hypoxic ischemic encephalopathy (HIE) is a significant cause of mortality and short- and long-term morbidities. Therapeutic hypothermia (TH) has been shown to be the standard care for HIE of infants ≥36 weeks gestational age (GA), as it has been demonstrated to reduce the rates of mortality, and adverse neurodevelopmental outcomes. This study aims to determine the incidence of HIE in our country, to assess the TH management in infants with HIE, and present short-term outcomes of these infants. METHODS: The Turkish Hypoxic Ischemic Encephalopathy Online Registry database was established for this multicenter, prospective, observational, nationally-based cohort study to evaluate the data of infants born at ≥34 weeks GA who displayed evidence of neonatal encephalopathy (NE) between March, 2020 and April 2022. RESULTS: The incidence of HIE among infants born at ≥36 weeks GA (n = 965) was 2.13 per 1000 live births (517:242440), and accounting for 1.55% (965:62062) of all neonatal intensive care unit admissions. The rates of mild, moderate and severe HIE were 25.5% (n = 246), 58.9% (n = 568), and 15.6% (n = 151), respectively. Infants with severe HIE had higher rates of abnormal magnetic resonance imaging (MRI) findings, and mortality (p<0.001). No significant difference in mortality and abnormal MRI results was found according to the time of TH initiation (<3 h, 3-6 h and >6 h) (p>0.05). TH was administered to 85 (34.5%) infants with mild HIE, and of those born of 34-35 weeks of GA, 67.4% (n = 31) received TH. A total of 58 (6%) deaths were reported with a higher mortality rate in infants born at 34-35 weeks of GA (OR 3.941, 95% Cl 1.446-10.7422, p = 0.007). CONCLUSION: The incidence of HIE remained similar over time with a reduction in mortality rate. The timing of TH initiation, whether <3 or 3-6 h, did not result in lower occurrences of brain lesions on MRI or mortality. An increasing number of infants with mild HIE and late preterm infants with HIE are receiving TH; however, the indications for TH require further clarification. Longer follow-up studies are necessary for this vulnerable population.

Postnatal surgery for myelomeningocele in neonates: neurodevelopmental outcomes.

BACKGROUND: The study aims to evaluate the neurodevelopmental outcomes of neonates with myelomeningocele (MMC) operated in the postnatal period. METHODS: This is a prospective follow-up study in a tertiary neonatal intensive care unit. Neurodevelopmental outcomes of term neonates operated for MMC and healthy term newborns were compared with the Bayley Scales of Infant and Toddler Development -Third Edition (BSID III) at 12-18 months. RESULTS: A total of 57 cases were included in the study (patient group = 27; control group = 30). Demographic data between the groups were similar. Cognitive, linguistic, and motor composite scores of the patient group were lower than those of the control group (p < 0.001). In the patient group, those who underwent ventriculoperitoneal shunt had lower cognitive, language and motor scores than those without shunt (p < 0.05). The cognitive, linguistic, and motor composite scores in the patient group who underwent surgery before 72 h were better than those who underwent surgery after 72 h. DISCUSSION: In our study, it was found that the neurodevelopmental prognosis of MMC cases requiring ventriculoperitoneal shunt in the postnatal period was significantly worse than those without shunt. It is the first study in which the neurodevelopment of patients with MMC who were operated in the postnatal period was evaluated with BSID III evaluated and delays in all areas were shown in cases with MMC compared to normal cases. Better neurodevelopmental outcomes in patients operated in the first 72 h suggest that early surgery will improve neurodevelopmental outcomes in patients with MMC.

Bilirubin Measurement Through a Smartphone Application in Preterm Infants.

BACKROUND: Aim of the present study is to evaluate the feasibility and reliability of an smartphone application for monitore of bilirubin levels in preterm infants. METHODS: Preterm infants hospitalized in the neonatal intensive care unit with gestational age of<35 weeks were included. Exclusion criteria were parental reluctance and requirement of phototherapy in the last 12 hours. Measurements were obtained through a smartphone application (BiliScan) along with simultaneous transcutaneous device (Dräger JM 105) and venous blood biochemistry. RESULTS: Mean gestational age was 30.8±2.4 weeks and birth weight was 1622±566 g. Measurements were obtained at a median of 4 (1-21) days of life. Twenty-five infants (19.4%) had ABO and/or Rh incompatibility and 39 infants (30.2%) required phototherapy. None of the cases required exchange transfusion. Mean total serum bilirubin (TSB) level was 8.16±2.60 mg/dL, mean transcutaneous bilirubin (TcB) level was 8.60±2.70 mg/dL, and the mean bilirubin level measured by BiliScan was 7.26±2.68 mg/dL. For TSB and TcB measurements, the intraclass correlation coefficient (ICC) was found to be 0.915 (95% confidence interval 0.835-0.951; p<0.001) and a strong positive correlation was found between these two measurements. When TSB and BiliScan measurements were compared, ICC was found to be significant as 0.512 (95% confidence interval 0.353-0.638; p<0.001), with a moderate correlation. CONCLUSIONS: In this study, we evaluated the feasibility and reliability of a smartphone application for monitoring bilirubin levels in preterm infants. Although BiliScan measurements reported to display high correlation in term infants, a moderate correlation was found in the preterm infants. It is an emerging low-cost, non-invasive alternative for neonatal jaundice monitoring, however, results should be interpreted with caution in preterm infants.

Is Nasal Septum-Tragus Length Measurement Appropriate for Endotracheal Tube Intubation Depth in Neonates? A Randomized Controlled Study.

OBJECTIVE: Endotracheal intubation is a frequent procedure performed in neonates with respiratory distress. Clinicians use different methods to estimate the intubation insertion depth, but, unfortunately, the improper insertion results are very high. In this study, we aimed to compare the two different methods (Tochen's formula = weight in kilograms + 6 cm; and nasal septum-tragus length [NTL] + 1 cm) used to determine the endotracheal tube (ETT) insertion depth. STUDY DESIGN: Infants who had intubation indications were enrolled in this study. The intubation tube was fixed using the Tochen formula (Tochen group) or the NTL + 1 cm formula (NTL group). After intubation, the chest radiograph was evaluated (above T1, proper place, and below T2). RESULTS: A total of 167 infants (22-42 weeks of gestational age) were included in the study. The proper tube placement rate in both groups was similar (32.4 vs. 30.4% for infants < 34 weeks of gestational age and 56.8 vs. 45.0% in infants > 34 weeks of gestational age). The ETT was frequently placed below T2 at a higher rate in infants with a gestational age of <34 weeks, especially in the NTL group (46% in the Tochen group and 60.7% in the NTL group). CONCLUSION: The NTL + 1 cm formula led to a higher rate of ETT placement below T2, especially in infants with a birth weight of <1,500 g. Therefore, more studies are needed to determine the optimal ETT insertion depth.

The effects of auditory interventions on pain and comfort in premature newborns in the neonatal intensive care unit; a randomised controlled trial.

OBJECTIVE: This study investigated the effects of three auditory interventions; white noise, recorded mother's voice, and MiniMuffs, applied during a heel lance on pain and comfort in premature infants in the neonatal intensive care units. DESIGN AND METHODS: This experimental, parallel, randomised controlled research was conducted in a state hospital tertiary-level neonatal intensive care unit. The sample comprised sixty-four premature infants with gestational ages of 31-36 weeks. The infants were randomly assigned to four groups: i) white noise, ii) recorded mother's voice, iii) MiniMuffs, and iv) control. Pain and comfort of newborns were evaluated according to the Neonatal Infant Pain Scale (NIPS) and the COMFORTneo scale. Oxygen saturation, heart rate, and crying time were also measured. RESULTS: The mean of oxygen saturation levels in the white noise, recorded mother's voice, and MiniMuffs group were higher than the control group. The heart rate, crying time, mean NIPS score, COMFORTneo score of the premature neonates in the white noise, recorded mother's voice, and MiniMuffs groups were significantly lower than the control group (p < .001). CONCLUSION: Auditory interventions used during heel lance reduce the pain and increase the comfort of the premature infants. White noise is extremely effective in preventing infants's pain.

Does ibuprofen treatment in patent ductus arteriosus alter oxygen free radicals in premature infants?

Introduction Ibuprofen is used widely to close patent ductus arteriosus in preterm infants. The anti-inflammatory activity of ibuprofen may also be partly due to its ability to scavenge reactive oxygen species and reactive nitrogen species. We evaluated the interaction between oxidative status and the medical treatment of patent ductus arteriosus with two forms of ibuprofen. Materials and methods This study enrolled newborns of gestational age ⩽32 weeks, birth weight ⩽1500 g, and postnatal age 48-96 hours, who received either intravenous or oral ibuprofen to treat patent ductus arteriosus. Venous blood was sampled before ibuprofen treatment from each patient to determine antioxidant and oxidant concentrations. Secondary samples were collected 24 hours after the end of the treatment. Total oxidant status and total antioxidant capacity were measured using Erel's method. RESULTS: This prospective randomised study enrolled 102 preterm infants with patent ductus arteriosus. The patent ductus arteriosus closure rate was significantly higher in the oral ibuprofen group (84.6 versus 62%) after the first course of treatment (p=0.011). No significant difference was found between the pre- and post-treatment total oxidant status and total antioxidant capacity in the groups. Discussion Ibuprofen treatment does not change the total oxidant status or total antioxidant capacity. We believe that the effect of ibuprofen treatment in inducing ischaemia overcomes the scavenging effect of ibuprofen.

Impact of oral probiotics on neurodevelopmental outcomes in preterm infants.

OBJECTIVE: The aim of the study was to evaluate the neurodevelopment outcomes of very low birth weight (VLBW) preterm infants supplemented with oral probiotics for the prevention of necrotizing enterocolitis (NEC). METHODS: A prospective follow-up study was performed in a cohort of VLBW preterm infants enrolled in a single center randomized controlled clinical trial to evaluate the efficacy of oral probiotics for the prevention of NEC. Cognitive and neuromotor developments were assessed by using the Bayley scales of infant development II. Sensory and neurological performance was evaluated by standard techniques. The primary outcome was neurodevelopmental impairment at 18-24 months' corrected age. RESULTS: A total of 400 infants completed the trial protocol. Of the 370 infants eligible for follow-up, 249 infants (124 in the probiotics group and 125 in the control group) were evaluated. There was no significant difference in any of the neurodevelopmental and sensory outcomes between the two groups. CONCLUSION: Oral probiotic given to VLBW infants to reduce the incidense and severity of NEC started with the first feed did not affect neuromotor, neurosensory and cognitive outcomes at 18-24 months' corrected age.

Congenital cutis marmorata telangiectatica and syndactyly in a preterm: case report.

Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18.8-70% of the cases. Diagnosis of the disorder is based on the clinical findings. The prognosis is good and improvement is observed within 2 years after birth. Herein, we report a case of a male neonate with CMTC presented on the skin of all his limbs, trunk and face, and an associated anomaly including syndactyly. We present this case because of its rarity.

La piel marmórea telangiectásica congenita (cutis marmorata telangiectatica congenita, CMTC) es una anomalía vascular congenita rara, a menudo benigna, localizada o generalizada, de etiología desconocida. Se caracteriza por piel marmórea persistente, telangiectasia y flebectasia. Podrían presentarse manifestaciones extracutáneas asociadas con la CMTC en el 18,8-70% de los casos. El diagnóstico de este trastorno se basa en los hallazgos clínicos. El pronóstico es bueno y suele mejorar dentro de los dos años de vida. En este artículo presentamos el caso de un varón recien nacido con CMTC en la piel de todas las extremidades, el tronco y el rostro, y una anomalía asociada, que incluía sindactilia. Presentamos este caso debido a su rareza.

Piel marmórea telangiectasica congenita y sindactilia en un recién nacido prematuro: A proposito de un caso / Congenital cutis marmorata telangiectatica and syndactyly in a preterm: Case report

La piel marmórea telangiectásica congenita (cutis marmorata telangiectatica congenita, CMTC) es una anomalía vascular congenita rara, a menudo benigna, localizada o generalizada, de etiología desconocida. Se caracteriza por piel marmórea persistente, telangiectasia y flebectasia. Podrían presentarse manifestaciones extracutáneas asociadas con la CMTC en el 18,8-70% de los casos. El diagnóstico de este trastorno se basa en los hallazgos clínicos. El pronóstico es bueno y suele mejorar dentro de los dos años de vida. En este artículo presentamos el caso de un varón recien nacido con CMTC en la piel de todas las extremidades, el tronco y el rostro, y una anomalía asociada, que incluía sindactilia. Presentamos este caso debido a su rareza.

Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18.8-70% of the cases. Diagnosis of the disorder is based on the clinical findings. The prognosis is good and improvement is observed within 2 years after birth. Herein, we report a case of a male neonate with CMTC presented on the skin of all his limbs, trunk and face, and an associated anomaly including syndactyly. We present this case because of its rarity.

Problems of the neonates with congenital heart disease requiring early interventions: a regional report.

AIM: In this study, it was aimed to determine the problems of the neonates who were diagnosed with congenital heart disease requiring early intervention in our hospital. MATERIAL AND METHODS: The files of the newborn babies with congenital heart disease requiring early intervention who were admitted to the neonatal intensive care unit of our hospital between January 2011 and January 2013 were evaluated retrospectively. In all cases, echocardiography and ''Score for Neonatal Acute Physiology-II" (SNAP-II) scoring were performed within the first day of admission. The data were interpreted using Number Cruncher Statistical System 2007 software. The statistical significance was set at p<0.05. RESULTS: A total of 83 babies were included in the study. Forty six of the patients were male (55%), and 37 (45%) were female. Sixty eight percent of the patients were referred from the neighboring provinces and 32% were transferred from the centers within the city. The age range was between 0 and 28 (5.6±6.4 day) days. The SNAP-II scores upon admission ranged between 0 and 90 (mean: 20±20.3). None of the patients was diagnosed prenatally. The most common diagnoses included transposition of the great arteries (33.7%) and pulmonary atresia (19.3%). Nineteen (22%) patients were lost in the neonatal intensive care unit. There was a significant relationship between the mortality and the SNAP-II scores (p=0.0001) and use of vasopressors (p=0.004). The diagnosis, gender, use of alprostadil and age were not related to mortality. Three patients were discharged following planning of elective surgery and 60 patients were referred to a tertiary center by air ambulance. CONCLUSIONS: The results of our study indicated that prenatal diagnosis could not be made in neonates with congenital heart disease requiring intervention in our region. The mortality rates of these patients were related to the severity of the clinical status at presentation rather than to the age, gender and type of congenital heart disease. The mortality was much higher in the patients who developed circulatory failure. Most of the patients who survived were sent by air ambulance to the centers where the intervention was to be performed.

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.

BACKGROUND: Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes and usually presents in the first 6 months of life. We aimed to describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM patients from a single centre and estimate an annual incidence rate of NDM in South-Eastern Anatolian region of Turkey. DESIGN AND METHODS: NDM patients presenting to Diyarbakir Children State Hospital between 2010 and 2013, and patients under follow-up with presumed type 1 diabetes mellitus, with onset before 6 months of age were recruited. Molecular genetic analysis was performed. RESULTS: Twenty-two patients (59% males) were diagnosed with NDM (TNDM-5; PNDM-17). Molecular genetic analysis identified a mutation in 20 (95%) patients who had undergone a mutation analysis. In transient neonatal diabetes (TNDM) patients, the genetic cause included chromosome 6q24 abnormalities (n=3), ABCC8 (n=1) and homozygous INS (n=1). In permanent neonatal diabetes (PNDM) patients, homozygous GCK (n=6), EIF2AK3 (n=3), PTF1A (n=3), and INS (n=1) and heterozygous KCNJ11 (n=2) mutations were identified. Pancreatic exocrine dysfunction was observed in patients with mutations in the distal PTF1A enhancer. Both patients with a KCNJ11 mutation responded to oral sulphonylurea. A variable phenotype was associated with the homozygous c.-331C>A INS mutation, which was identified in both a PNDM and TNDM patient. The annual incidence of PNDM in South-East Anatolian region of Turkey was one in 48 000 live births. CONCLUSIONS: Homozygous mutations in GCK, EIF2AK3 and the distal enhancer region of PTF1A were the commonest causes of NDM in our cohort. The high rate of detection of a mutation likely reflects the contribution of new genetic techniques (targeted next-generation sequencing) and increased consanguinity within our cohort.

Mutations in BTD gene causing biotinidase deficiency: a regional report.

Biotinidase deficiency is an autosomal recessive inborn error of biotin metabolism. Children with biotinidase deficiency cannot cleave biocytin and, therefore, cannot recycle biotin. Untreated individuals become secondarily biotin deficient, which in turn results in decreased activities of the biotin-dependent carboxylases and the subsequent accumulation of toxic metabolites causing clinical symptoms. Biotinidase deficiency is characterized by neurological, cutaneous manifestations and metabolic abnormalities. The worldwide incidence of profound biotinidase deficiency has been estimated at 1:112,271. The human biotinidase gene is located on chromosome 3p25 and consists of four exons with a total length of 1629 base pairs. To date, more than 100 mutations in the biotinidase gene known to cause biotinidase deficiency have been reported. The vast majority of mutations are homozygous or compound heterozygous. Finding known mutations can be correlated with the biochemical enzymatic results. This report summarizes the demographic features of patients identified as biotinidase deficient from August of 2012 through August of 2013 and mutation analysis results for 20 cases in the southeast region of Turkey.

Transient nephrogenic diabetes insipidus caused by fetal exposure to haloperidol.

Haloperidol is commonly used in the treatment of psychiatric disorders. Data from animal experiments indicate haloperidol is not teratogenic, but is embryotoxic in high doses. For the first time, we report a neonate with transient nephrogenic diabetes insipidus (DI) caused by fetal exposure to haloperidol. The magnitude of risk associated with the use of haloperidol during pregnancy appears to be small, but nephrogenic DI secondary to haloperidol is a serious condition with the risk of hypernatremic dehydration. Haloperidol can have adverse effects on the fetus and newborn infant, that's why one should prevent the use of haloperidol during pregnancy and lactation.

Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course.

Neonatal-onset propionic acidemia (PA), the most common form, is characterized by poor feeding, vomiting, and somnolence in the first days of life in a previously healthy infant, followed by lethargy, seizures, and can progress to coma if not identified and treated appropriately. It is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenias. PA is caused by deficiency of propionyl-CoA carboxylase (PCC), the enzyme that catalyzes the conversion of propionyl-CoA to methylmalonyl-CoA. Herein, we report a case of 3-day-old neonate with PA presented with acute renal failure and metabolic acidosis was effectively treated by peritoneal dialysis and conventional methods.

Assessment of red blood cell transfusion and transfusion duration on cerebral and mesenteric oxygenation using near-infrared spectroscopy in preterm infants with symptomatic anemia.

BACKGROUND: The aim of red blood cell (RBC) transfusion is to improve tissue oxygenation and relieve anemia-related symptoms in preterm infants. We sought to assess regional cerebral (rSO2 C) and mesenteric (rSO2 M) tissue oxygenation using a near-infrared spectroscopy (NIRS) method and vital signs (heart rate, arterial oxygen saturation, mean arterial blood pressure) in symptomatic preterm infants with anemia who received RBC transfusions. STUDY DESIGN AND METHODS: Twenty-three symptomatic patients with anemia who were at least 1 month old, whose gestational age was less than 30 weeks, and whose hematocrit level was not more than 27% were involved in the transfusion group. The control group consisted of preterm infants (Hct ≥ 32) matched for gestational age and postnatal days. The transfusion group was divided into two subgroups based on transfusion duration (2 or 4 hr). Both study groups were monitored for vital signs and rSO2 C, rSO2 M, and mesenteric-cerebral oxygenation ratio (MCOR) via NIRS for 24 hours simultaneously and compared with the control group. NIRS variables and vital signs obtained before, during, and after transfusion were compared both within and between 2- and 4-hour groups. RESULTS: rSO2 C, rSO2 S, and MCOR increased during and after transfusions, while cerebral fractional oxygen extraction (FOEC) and mesenteric fractional oxygen extraction (FOEM) decreased. No significant difference was found between subgroups for NIRS measurements and vital signs. A weak correlation between hemoglobin concentration and FOEC and FOEM was found. CONCLUSION: RBC transfusion improved cerebral-mesenteric oxygenation and MCOR in symptomatic infants with anemia, independent of the transfusion duration.

Umbilical cord and fifth-day serum vaspin concentrations in small-, appropriate-, and large-for-gestational age neonates.

BACKGROUND: Vaspin is a visceral adipose tissue-derived serine protease inhibitor that has an insulin-sensitizing effect. It is correlated with insulin resistance and glucose metabolism, and it improves glucose tolerance. AIM: The aim of this study was to determine and compare serum vaspin and insulin concentrations in small-for- gestational age (SGA), appropriate-for-gestational age (AGA), and large-for-gestational age (LGA) infants at birth and fifth postnatal day. PATIENTS AND METHODS: Eighty-two neonates were divided into three groups: SGA (n=22), AGA (n=30), and LGA (n=30). Mothers' age, gestational week, mode of delivery, and maternal diseases, such as diabetes, pre-eclampsia, and eclampsia were recorded. Blood for vaspin, insulin, and glucose was collected from the cord at birth and from a peripheral vein on the fifth postnatal day. RESULTS: At birth, there were no statistically significant difference in serum insulin concentrations among the three groups, whereas cord serum vaspin concentrations were significantly higher in the SGA group (χ2=8.158, p<0.05). Serum glucose and vaspin levels on the fifth postnatal day had no significant difference among three groups (p<0.05). Circulating vaspin concentrations were not associated with the sex of the infant and delivery route. CONCLUSION: Cord vaspin levels are significantly higher in SGA neonates than in AGA or LGA neonates. The fetal programming hypothesis proposes that many adulthood diseases originate from the adaptation that the fetus makes when it is undernourished. High cord-vaspin levels in SGA infants may be one of the adaptations for increased risk for adult metabolic diseases.