Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome.

Introduction: Propionic acidemia (PA) is an inborn error of organic acid metabolism inherited in an autosomal recessive manner. The neonatal-onset disease may present with feeding difficulties and vomiting; seizures, coma, and death may occur if untreated. In addition, catabolic processes such as infections and surgical procedures could cause metabolic decompensation, so patients with organic acidemia should be followed closely. Case Presentation: Here, a patient diagnosed with PA and Apert syndrome in the neonatal period and the complications caused by the coexistence of the two entities are mentioned. The difficulties precipitated by the coexistence of Apert syndrome and PA make this case unique. She has had prolonged hospitalizations due to metabolic decompensations after cranioplasty and inguinal hernia repair, both triggered by nosocomial respiratory infections, complicating both the surgical treatment of Apert syndrome and the management of PA. Conclusion: Coexistence of these two serious disorders mandates a more prudent clinical management as Apert syndrome patients undergo several surgical procedures, rendering them susceptible to catabolic decompensations.

Impact of clinical pharmacist-led intervention for drug-related problems in neonatal intensive care unit a randomized controlled trial.

Introduction: Drug-related problems (DRPs) incidence is higher in neonatal intensive care units (NICUs), compared to other pediatric wards due to aspects like off-label medications, pharmacokinetic/dynamic variability, or organ dysfunction/immaturity. This study aimed to determine whether and to what extent a clinical pharmacist intervention improves medication safety and prevents DRPs [medication errors (MEs), adverse drug reactions (ADRs), drug-drug interactions (DDIs)]. Methods: A prospective, randomized, double blind, controlled study in NICU-admitted neonates was conducted. NICU patients were randomly assigned to the intervention (clinical pharmacist-led) (IG) or control group (standard care such as clinical diagnosis, pharmacotherapy) (CG). The clinical pharmacist was involved in the IG to identify-prevent-intervene MEs, or identify and monitor ADRs and DDIs. The primary outcome was the number of neonates who developed at least one DRP compared with those seen across IG and CG. Secondary outcomes included length of hospital stay, total number of drugs or DRP type. Results: Neonates were randomly assigned to CG (n = 52) or IG (n = 48). In total, 45%, 42%, and 16% of patients had at least 1 MEs, ADRs, and clinically significant DDIs, respectively. The number of patients with at least 1 ME was 28 (53%) and 17 (35%) in the CG and IG (p>0.05). The median (range) number of ME was higher in CG [1 (0-7)] than in IG [0 (0-4)] (p = 0.003). Applying regression analysis, the CG had 2.849 times more MEs than the IG (p<0.001). Furthermore, the number of patients (CG to IG) with at least one detected ADR or clinical DDI was 19 (36%) to 23 (47%) (p>0.05) and 4 (7%) to 12 (25%), respectively (p = 0.028). Conclusion: Clinical pharmacist availability to systematically and standardized identify, prevent and resolve DRPs among NICU patients is effective. Daily detailed clinical pharmacist observations and interventions enables prevention and monitoring of DRPs. Clinical Trial Registration ClinicalTrials.gov, identifier NCT04899960.

Neonatal Resuscitation Practices in Turkey: A Survey of the Turkish Neonatal Society and the Union of European Neonatal and Perinatal Societies.

OBJECTIVE: Optimal care in the delivery room is important to decrease neonatal morbidity and mortality. We aimed to evaluate neonatal resuscitation practices in Turkish centers. MATERIALS AND METHODS: A cross-sectional survey consisted of a 91-item questionnaire focused on delivery room practices in neonatal resuscitation and was sent to 50 Turkish centers. Hospitals with <2500 and those with ≥2500 births/year were compared. RESULTS: In 2018, approximately 240 000 births occurred at participating hospitals with a median of 2630 births/year. Participating hospitals were able to provide nasal continuous-positiveairway-pressure/high-flow nasal cannula, mechanical ventilation, high-frequency oscillatory ventilation, inhaled nitric oxide, and therapeutic hypothermia similarly. Antenatal counseling was routinely performed on parents at 56% of all centers. A resuscitation team was present at 72% of deliveries. Umbilical cord management for both term and preterm infants was similar between centers. The rate of delayed cord clamping was approximately 60% in term and late preterm infants. Thermal management for preterm infants (<32 weeks) was similar. Hospitals had appropriate equipment with similar rates of interventions and management, except conti nuous-positive-airway-pressure and positive-end-expiratory-pressure levels (cmH2O) used in preterm infants (P = .021, and P = .032). Ethical and educational aspects were also similar. CONCLUSIONS: This survey provided information on neonatal resuscitation practices in a sample of hospitals from all regions of Turkey and allowed us to see weaknesses in some fields. Although adherence to the guidelines was high among centers, further implementations are required in the areas of antenatal counseling, cord management, and circulation assessment in the delivery room.

Development and validation of a machine learning-based detection system to improve precision screening for medication errors in the neonatal intensive care unit.

Aim: To develop models that predict the presence of medication errors (MEs) (prescription, preparation, administration, and monitoring) using machine learning in NICU patients. Design: Prospective, observational cohort study randomized with machine learning (ML) algorithms. Setting: A 22-bed capacity NICU in Ankara, Turkey, between February 2020 and July 2021. Results: A total of 11,908 medication orders (28.9 orders/patient) for 412 NICU patients (5.53 drugs/patient/day) who received 2,280 prescriptions over 32,925 patient days were analyzed. At least one physician-related ME and nurse-related ME were found in 174 (42.2%) and 235 (57.0%) of the patients, respectively. The parameters that had the highest correlation with ME occurrence and subsequently included in the model were: total number of drugs, anti-infective drugs, nervous system drugs, 5-min APGAR score, postnatal age, alimentary tract and metabolism drugs, and respiratory system drugs as patient-related parameters, and weekly working hours of nurses, weekly working hours of physicians, and number of nurses' monthly shifts as care provider-related parameters. The obtained model showed high performance to predict ME (AUC: 0.920; 95% CI: 0.876-0.970) presence and is accessible online (http://softmed.hacettepe.edu.tr/NEO-DEER_Medication_Error/). Conclusion: This is the first developed and validated model to predict the presence of ME using work environment and pharmacotherapy parameters with high-performance ML algorithms in NICU patients. This approach and the current model hold the promise of implementation of targeted/precision screening to prevent MEs in neonates. Clinical Trial Registration: ClinicalTrials.gov, identifier NCT04899960.

Effect of prostaglandin-E1 treatment on pyloric wall thickness in newborns with ductal-dependent critical congenital heart diseases.

BACKGROUND: Prostaglandin E1 (PGE1) is used in the medical treatment of ductal-dependent critical congenital heart disease (CCHD) in neonates. Apnea/bradycardia, hypotension, hypokalemia, and fever are the most important side effects of PGE1. Moreover, gastric outlet obstruction has been reported in a few case reports. A prospective study was conducted to investigate the effect of PGE1 treatment on pyloric wall thickness in newborns with congenital heart diseases. METHODS: A total of 22 newborns with ductal-dependent CCHD having PGE1 infusion longer than a week were included in this study. Ultrasonographic measurements were performed before and one week after the PGE1 infusion to evaluate the pyloric thickness and length. The protocol was registered with ClinicalTrials.govidentifier NCT04496050. RESULTS: A total of 22 neonates with mean gestational age 38 ± 1.8 weeks and birth weight 3105 ± 611 gr were enrolled in the study. The median time of the second ultrasound was seven days. The median cumulative dose of PGE1 given during this period was 108 mcg/kg/min. There was a statistically significant increase in post-treatment pyloric thickness and length compared to pre-treatment measurements (p < 0.001, p < 0.001). None of the patients with increased thickness and pyloric muscle length presented any symptoms. CONCLUSION: PGE1 treatment significantly increased the pyloric thickness and length after at least one-week treatment. PGE1 with its action mechanism is likely to cause gastric outlet obstruction, although not exactly pyloric stenosis on the condition used for a long time.

Development and validation of machine learning-based clinical decision support tool for identifying malnutrition in NICU patients.

Hospitalized newborns have an increased risk of malnutrition and, especially preterm infants, often experience malnutrition-related extrauterine growth restriction (EUGR). The aim of this study was to predict the discharge weight and the presence of weight gain at discharge with machine learning (ML) algorithms. The demographic and clinical parameters were used to develop the models using fivefold cross-validation in the software-R with a neonatal nutritional screening tool (NNST). A total of 512 NICU patients were prospectively included in the study. Length of hospital stay (LOS), parenteral nutrition treatment (PN), postnatal age (PNA), surgery, and sodium were the most important variables in predicting the presence of weight gain at discharge with a random forest classification (AUROC:0.847). The AUROC of NNST-Plus, which was improved by adding LOS, PN, PNA, surgery, and sodium to NNST, increased by 16.5%. In addition, weight at admission, LOS, gestation-adjusted age at admission (> 40 weeks), sex, gestational age, birth weight, PNA, SGA, complications of labor and delivery, multiple birth, serum creatinine, and PN treatment were the most important variables in predicting discharge weight with an elastic net regression (R2 = 0.748). This is the first study on the early prediction of EUGR with promising clinical performance based on ML algorithms. It is estimated that the incidence of EUGR can be improved with the implementation of this ML-based web tool ( http://www.softmed.hacettepe.edu.tr/NEO-DEER/ ) in clinical practice.

An Artificial Intelligence Approach to Support Detection of Neonatal Adverse Drug Reactions Based on Severity and Probability Scores: A New Risk Score as Web-Tool.

BACKGROUND: Critically ill neonates are at greater risk for adverse drug reactions (ADRs). The differentiation of ADRs from reactions associated with organ dysfunction/immaturity or genetic variability is difficult. METHODS: In this prospective cohort study, each ADR was assessed using newborn-specific severity and probability scales by the clinical pharmacist. Subsequently, a machine learning-based risk score was designed to predict ADR presence in neonates. RESULTS: In 98/412 (23.8%) of (56.3%; male) neonates included, 187 ADRs (0.42 ADR/patient) were determined related to 49 different drugs (37.12%). Drugs identified as high risk were enoxaparin, dexmedetomidine, vinblastine, dornase alfa, etoposide/carboplatin and prednisolone. The independent variables included in the risk score to predict ADR presence, according to the random forest importance criterion, were: systemic hormones (2 points), cardiovascular drugs (3 points), diseases of the circulatory system (1 point), nervous system drugs (1 point), and parenteral nutrition treatment (1 point), (cut-off value: 3 points). This risk score correctly classified 91.1% of the observations in the test set (c-index: 0.914). CONCLUSIONS: Using the high-performing risk score specific to neonates, it is expected that high-risk neonatal ADRs can be determined and prevented before they occur. Moreover, the awareness of clinicians of these drugs can be improved with this web-tool, and mitigation strategies (change of drug, dose, treatment duration, etc.) can be considered, based on a benefit-harm relationship for suspected drugs with a newborn-centered approach.

Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism.

OBJECTIVES: Neonatal-onset organic acidemias (OAs) account for 80% of neonatal intensive care unit (NICU) admissions due to inborn errors of metabolism. The aim of this study is to analyze clinical features and follow-up of neonates diagnosed with OAs in a metabolic referral center, focusing on perinatal characteristics and the impact of first the metabolic crisis on long-term outcome. METHODS: Perinatal features, clinical and laboratory characteristics on admission and follow-up of 108 neonates diagnosed with OAs were retrospectively analyzed. Global developmental delay, abnormal electroencephalogram (EEG) or brain magnetic resonance imaging (MRI), chronic complications, and overall mortality. Associations between clinical findings on admission and outcome measures were evaluated. RESULTS: Most prevalent OA was maple syrup urine disease (MSUD) (34.3%). Neonates with methylmalonic acidemia (MMA) had significantly lower birth weight (p<0.001). Metabolic acidosis with increased anion gap was more frequent in MMA and propionic acidemia (PA) (p=0.003). 89.1% of OAs were admitted for recurrent metabolic crisis. 46% had chronic non-neurologic complications; 19.3% of MMA had chronic kidney disease. Abnormal findings were present in 26/34 of EEG, 19/29 of MRI studies, and 32/33 of developmental screening tests. Metabolic acidosis on admission was associated with increased incidence of abnormal EEG (p=0.005) and overall mortality (p<0.001). Severe hyperammonemia in MMA was associated with overall mortality (33.3%) (p=0.047). Patients diagnosed between 2007-2017 had lower overall mortality compared to earlier years (p<0.001). CONCLUSIONS: Metabolic acidosis and hyperammonemia are emerging predictors of poor outcome and mortality. Based on a large number of infants from a single center, survival in neonatal-onset OA has increased over the course of 30 years, but long-term complications and neurodevelopmental results remain similar. While prompt onset of more effective treatment may improve survival, newer treatment modalities are urgently needed for prevention and treatment of chronic complications.

Recovery of cyanosis after esophageal intubation in a neonate with tracheal agenesis: a case report.

BACKGROUND: Tracheal agenesis (TA) is a rare congenital defect that consists of a complete or partial absence of the trachea below the larynx, with or without tracheoesophageal fistula (TEF). It is a severe congenital defect with a very high mortality rate. The recommended surgical approach is esophageal ligation and gastrostomy. Despite the progress in reconstructive surgical techniques, the outcome of the anomaly is still very poor. We described a case of TA with a TEF in a female newborn with a hemivertebra, single ventricle, single atrioventricular valve, single atrium, and cardiac left isomerization. CASE: The patient, who was born at 37 weeks of age, was diagnosed with imaging methods, as the cyanosis did not improve despite being intubated many times in the delivery room; the cyanosis improved after esophageal intubation. Despite all life support treatment, the patient died on the fourth day of life. At autopsy, tracheal agenesis was diagnosed. CONCLUSIONS: In newborns who cannot be intubated in the delivery room or whose lungs cannot be ventilated despite being intubated and whose cyanosis cannot be corrected, tracheal agenesis should be considered and ventilation with esophageal intubation should also be tried.

Novel Method for Early Prediction of Clinically Significant Drug-Drug Interactions with a Machine Learning Algorithm Based on Risk Matrix Analysis in the NICU.

Aims: Evidence for drug-drug interactions (DDIs) that may cause age-dependent differences in the incidence and severity of adverse drug reactions (ADRs) in newborns is sparse. We aimed to develop machine learning (ML) algorithms that predict DDI presence by integrating each DDI, which is objectively evaluated with the scales in a risk matrix (probability + severity). Methods: This double-center, prospective randomized cohort study included neonates admitted to the neonatal intensive care unit in a tertiary referral hospital during the 17-month study period. Drugs were classified by the Anatomical Therapeutic Chemical (ATC) classification and assessed for potential and clinically relevant DDIs to risk analyses with the Drug Interaction Probability Scale (DIPS, causal probability) and the Lexicomp® DDI (severity) database. Results: A total of 412 neonates (median (interquartile range) gestational age of 37 (4) weeks) were included with 32,925 patient days, 131 different medications, and 11,908 medication orders. Overall, at least one potential DDI was observed in 125 (30.4%) of the patients (2.6 potential DDI/patient). A total of 38 of these 125 patients had clinically relevant DDIs causing adverse drug reactions (2.0 clinical DDI/patient). The vast majority of these DDIs (90.66%) were assessed to be at moderate risk. The performance of the ML algorithms that predicts of the presence of relevant DDI was as follows: accuracy 0.944 (95% CI 0.888-0.972), sensitivity 0.892 (95% CI 0.769-0.962), F1 score 0.904, and AUC 0.929 (95% CI 0.874-0.983). Conclusions: In clinical practice, it is expected that optimization in treatment can be achieved with the implementation of this high-performance web tool, created to predict DDIs before they occur with a newborn-centered approach.

Live in same region, respond differently: Canine and human response to pollutants in placental accumulation.

Polychlorinated biphenyls (PCBs), organochlorine pesticides (OCPs), polybrominated diphenyl ethers (PBDEs), and polycyclic aromatic hydrocarbons (PAHs) are endocrine-disrupting chemicals (EDCs). Their presence in the environment is particularly concerning in cases of fetal exposure, which is the most vulnerable period of life for both human and animals who share the same environment. Placenta, as a sample collected using noninvasive methods to screen EDCs, is a good indicator for potential fetal exposure. Although recent studies indicate that companion animal may correspond to human exposure, species-specific anatomo-morphological and metabolic differences are controversial. In this study, placenta samples of 60 women and 25 dogs living and giving birth within the same region were evaluated for the presence of PCB, OCP, PBDE, and PAH residues; where, socio-demographic factors were also assessed to identify the possible sources. Gas chromatography-mass spectrometry method was validated for the matrix, and among 45 screened and targeted pollutants, only 18 were found in human placentas. While the most frequently detected pollutants were DDTs, followed by PAHs and PCBs in decreasing order, the pollutants with the highest concentrations were PAHs, followed by PCBs and DDTs. Only five of the target contaminants were detected in the dog placentas. These results indicate that; as dogs have different bioaccumulation capacities and higher excretion rates than humans, the life-long effects of exposure to endocrine compound and possible consequences related to adverse health outcomes are expected to vary and concentrations cannot be directly correlated.

Environmental exposure in the etiology of infantile hypertrophic pyloric stenosis: a systematic review and meta-analysis.

PURPOSE: To investigate the occupational and environmental factors in the etiology of infantile hypertrophic pyloric stenosis (IHPS). METHODS: Protocol was drafted according to the PRISMA guidelines and registered on PROSPERO (CRD42020152460). A search for a combination of terms related to IHPS, fetus and neonates, and environmental exposure was performed for studies published between 2000 and 2020 in the EMBASE, Pubmed, and MEDLINE databases. RESULTS: Overall, 2203 abstracts were identified and 829 were screened. The full text of the selected articles (N = 98) was assessed for eligibility. Fifteen studies were included in quantitative synthesis. IHPS risk was significantly lower in black and Hispanic mothers than in white mothers [OR 0.47 (95% CI 0.44-0.51, p < 0.001), OR 0.85 (95% CI 0.77-0.94, p = 0.002), respectively]. Lower maternal education level and maternal smoking were risk factor for IHPS. We further observed a non-significant association between maternal folic acid usage and IHPS risk. Data were insufficient to evaluate occupational exposure. CONCLUSION: This review provides an understanding of the role of environmental exposures in IHPS etiology. Lower maternal educational level, maternal smoking, and white ethnicity are associated with a significantly increased risk of IHPS, while folic acid use seems non-significantly associated with IHPS risk. LEVEL OF EVIDENCE: III.

A very rare case of a newborn with tetrasomy 9p and literature review.

BACKGROUND: Tetrasomy 9p is a rare genetic condition which usually results from a supernumerary isochromosome derived from the short arm of chromosome 9. Phenotypic findings include multiple congenital anomalies, facial dysmorphism, growth and developmental delays, and also vary according to the presence and degree of mosaicism. CASE: We report on a newborn with tetrasomy 9p who deceased in the newborn period. She had facial features including low-set and anteverted ears, hypertelorism, prominent nasal bridge, and microretrognathia. Bilateral ventriculomegaly, vermian hypoplasia and corpus callosum agenesis were detected on magnetic resonance imaging and double outlet right ventricle (tetralogy of Fallot type), secundum atrial septal defect, and persistent left superior vena cava were displayed by echocardiography. Microarray analysis revealed 38,584 kb tetrasomic region at 9p24.3p13.1. We also present a review of the literature suggesting that there is a recognizable phenotype for this condition and an assessment of cardiac manifestations based on the size and the localization of the breakpoints. CONCLUSIONS: We conclude that cardiac manifestations do not differ according to the localization of the breakpoint. Persistent left superior vena cava seems to be consistent with breakpoints distal to q12, but the present case is different from them by breakpoint p13.1.

A new use of Lactobacillus rhamnosus GG administration in the NICU: colonized vancomycin-resistant enterococcus eradication in the gastrointestinal system.

INTRODUCTION: Enterococci are microbiota microorganisms that normally have low virulence; however, under some conditions they may cause community-acquired urinary tract and even hospital-acquired serious infections. Vancomycin-resistant enterococci (VRE) can cause aggressive infections in immunosuppressive patients; especially in newborns in intensive care units. Asymptomatic gastrointestinal system carriers are important sources of VRE. Asymptomatic patients colonized by VRE can infect both other patients and the environment. Prevention of gastrointestinal colonization of VRE is an important issue to prevent VRE infection, and for rational use of hospital source. METHOD: This study was carried out at Hacettepe University, Faculty of Medicine in Newborn Intensive Care Unit between November 2015 and March 2017. The newborn infants who were find as colonized by VRE during weekly surveillance VRE rectal stool culture screening were taken into the study. A single dose of one million colonies of Lactobacillus rhamnosus GG (LGG®) was given to the study group daily. The probiotic supplement continued until consecutive three negative cultures were detected or maximum 6 months. Control group received conventional treatment. RESULTS: In the study group, VRE eradication was successful in 21 patients out of 22 within 6 months and 1 patient was still VRE positive at 6 months. In the control group, VRE was eradicated in 12 patients out of 23 and 11 patients continued to be colonized by VRE at 6 months. There was a statistically significant difference between the groups (p <.05). CONCLUSION: Lactobacillus rhamnosus GG use is associated with early clearance of vancomycin-resistant enterococcus in newborn patients.

The effect of hyperbilirubinemia on motor repertoire of infants between 3 and 5 months of age.

Jaundice is a common problem and occurs as a result of the increase in bilirubin level in infants. Infants may be adversely affected by this situation. The aim of this study is to determine whether neonatal jaundice affects the movements and postures of 3- to 5-month-old infants with hyperbilirubinemia and the correlation of motor repertoire at the same age with bilirubin levels. The study group included 30 infants (9 girls, 21 boys) with hyperbilirubinemia and a control group of 30 infants (11 girls, 19 boys) with typical development without hyperbilirubinemia. The motor repertoires of the infants were evaluated through detailed general movement (GM) analysis using video recordings made at 9-17 weeks post-term. The infants with hyperbilirubinemia had lower motor optimality score and subcategory scores (including observed movement patterns, age-adequate movement repertoire, observed postural patterns, and movement character) compared with the control group. The fidgety movement scores decreased as bilirubin value increased in infants.Conclusion: Infants with hyperbilirubinemia had poorer motor repertoire when compared to a control group. For this reason, detailed GM analysis of these infants will predict probable neurodevelopmental problems and infants with needs can begin individualized early intervention suitable for movement repertoire and posture at the earliest time. What is Known: • GMs of infants with hyperbilirubinemia were previously described. • However, the motor repertoires of infants with hyperbilirubinemia were not described in detail. What is New: • Infants with hyperbilirubinemia had poorer motor repertoire when compared to peers. • This is important in determining the need for individualized early intervention.

Lung ultrasonography decreases radiation exposure in newborns with respiratory distress: a retrospective cohort study.

Chest X-ray (CXR) is commonly used as a first-line imaging method to determine the cause of respiratory distress in NICUs. The aim of the study was to retrospectively assess the decrease in the number of CXRs performed due to the use of lung ultrasonography on the first day of life for newborns with respiratory distress. Infants who were admitted to the NICU on the first day of life due to respiratory distress were enrolled in this study (ClinicalTrials.gov identifier NCT04722016) and divided into two groups: the study group (n = 104) included patients born between January 2019 and June 2020, and the historical control group (n = 73) included patients born between June 2017 and December 2018. As a first-line technique for lung imaging, only CXR had been used in the historical control group, whereas ultrasound had been preferred in the study group. The radiation dose to the newborns and the number of CXRs performed in the first day of life were compared between the two groups. Significant reductions in the number of CXRs performed and radiation exposure were observed in the study group. The radiation dose decreased from 5.54 to 4.47 µGy per baby when LUS was routinely used. The proportion of patients who underwent CXR decreased from 100 to 71.2%.Conclusion: We observed that using lung ultrasonography as a first-line evaluation method in neonates with respiratory distress decreased both the number of CXRs performed and radiation exposure. What is Known: • Chest X-ray is commonly used as a first line imaging method to diagnose the reason of respiratory distress in NICUs. • Lung ultrasound is a new diagnostic tool for lung imaging. What is New: • With the use of lung ultrasonography, radiation exposure of both newborns and healthcare workers can be reduced. • This retrospective study revealed that most of the babies with respiratory distress were treated without CXR.

Impact of Prematurity on the Buccal Epithelial Cells of the Neonates via Wnt/Beta-Catenin Signaling Pathway and Apoptosis.

OBJECTIVE: Understanding the reflections of prematurity is necessary for the management of neonatal complications. We focused on the impact of prematurity and related "maternal risk factors/obstetric complications" on buccal cells of the neonates via evaluation of the Wnt/ß-catenin signaling pathway and apoptosis. STUDY DESIGN: This study consisted of "early preterm neonates (EPN) (≤34th gestational week [gw]) (n = 36)," "late preterm neonates (LPN) (34th- < 37th gw) (n = 46)," and "term neonates (control) (≥37th gw) (n = 56)." Cohort was also subclassified according to the presence of maternal risk factors, obstetric complications, and neonatal complications. Wnt/ß-catenin signaling and caspase-3 activation pathways were studied immunocytochemically. RESULTS: Wnt/ß-catenin signaling positivity was statistically more frequent at buccal smears of the EPN and LPN groups compared with controls (p < 0.001). The cutoff for gestational age at delivery in receiver operating characteristic curve with the best balance of sensitivity (67.4%) and specificity (67.3%) was 35.8th gw for determining the reduction of Wnt/ß-catenin signaling positivity (p < 0.001). The study demonstrated that obstetric complications significantly affected the activity of signaling, while maternal risk factors do not have any effect on Wnt/ß-catenin signaling pathway (p = 0.003 and p = 0.828, respectively). This study also demonstrated a significant relationship between Wnt/ß-catenin signaling pathway and the presence of neonatal complications (p = 0.015). CONCLUSION: Dynamic characteristics of buccal cells are influenced by prematurity and related obstetric and neonatal problems. Buccal smear is a good tool to investigate the impact of prematurity and obstetric problems on perinatal outcome. KEY POINTS: · Neonatal buccal cells are affected by prematurity and related obstetric/neonatal problems.. · 35.8th gw is critical for determining the reduction of Wnt/ß-catenin signaling positivity.. · Obstetric and neonatal complications significantly related to Wnt/ß-catenin signaling activity..

A rare congenital esophageal anomaly mimicking an isolated esophageal atresia: Kluth Type IV1a membranous esophageal atresia.

Congenital esophageal web is a very rare type of esophageal atresia (EA) and is considered as Type IV atresia in Kluth's classification. Type IV EA is further classified into subgroups according to the location of web and the presence of tracheoesophageal fistula (TEF). Herein, we present a newborn having Type IV1a EA who was initially suspected as isolated EA and has co-existing malrotation together with the review of the literature. A newborn having congenital esophageal web was admitted with antenatal ultrasonography revealing polyhydramnios, dilated stomach, and duodenum. Abdominal X-ray revealed a gasless abdomen suggesting isolated EA. The upper gastrointestinal series confirmed complete obstruction at the lower esophagus. Bronchoscopy performed excluding TEF. Laparotomy revealed intestinal malrotation and the absence of another GI webs. Gastrotomy was performed and mucosal web at GEJ was seen by pushing nasogastric catheter. Web excision and Ladd procedure were performed. Congenital esophageal web is an extremely rare type of esophageal anomaly that can be only classified in Kluth classification. A high index of suspicion is required for diagnosis especially in newborns with the gasless abdomen and esophageal obstruction at the level of GEJ. Preoperative bronchoscopy is mandatory to exclude an associating TEF. Surgical exploration via laparotomy is beneficial for exploring additional GIS anomalies.

Impact of preterm birth on the cellular characteristics of neonatal buccal cells.

OBJECTIVE: To demonstrate the impact of preterm birth on the cytological, cytomorphometrical, and nuclear parameters of neonatal buccal smears. METHODS: This study consisted of Early Preterm Neonates (EPN; ≤34th gestational week [gw]; n = 36), Late Preterm Neonates (LPN; 34th to <37th gw; n = 46), and Term Neonates (control; ≥37th gw; n = 56). Cytological evaluation and buccal cytome assay were performed using Papanicolaou and Feulgen methods, respectively. RESULTS: Cytological evaluation demonstrated that smear background was cleaner (P < .05) and there were less macrophages in the control group (P < .001). Cyto-morphometric analysis showed that the measurements of nuclear diameter, nuclear area, and nucleus-to-cytoplasm ratio were higher in the preterm (EPN and LPN) versus the control groups (P = .016, P < .001, and P < .001, respectively). We also demonstrated that staining intensity of the nucleus and cytoplasm were less intense in the EPN and LPN groups (P < .001). There was no statistically significant difference between the EPN and LPN groups for any parameters (P > .05). Buccal cytome assay showed that nuclear buds were more prevalent in term newborns compared to preterm neonates (P < .001). CONCLUSIONS: Morphological and cytological properties of neonatal buccal cells are influenced by preterm birth status, and buccal smears may be used as a tool to detect biological markers of neonatal health problems.

Vitamin D Deficiency Prevalence in Late Neonatal Hypocalcemia: A Multicenter Study

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 (<12 ng/mL) was high in both the neonates (86.5%) and mothers (93%). Serum 25(OH)D levels of the infants and mothers showed a strong correlation (p<0.001). While the majority (93.7%) of the neonates had normal/high phosphorus levels, iPTH levels were low or inappropriately normal in 54.2% of the patients. Conclusion: Vitamin D deficiency prevalence was found to be high in LNH. Efforts to provide vitamin D supplementation during pregnancy should be encouraged. Evaluation of vitamin D status should be included in the workup of LNH.