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Skin eruptions are commonly encountered in the neonatal and infant period and can be a source of concern for providers and parents alike. We present a brief, clinically focused discussion on topics commonly encountered by the pediatrician with a focus on pearls of knowledge to help distinguish diseases from one another and from more serious conditions. We review miliaria, transient neonatal pustular melanosis, neonatal cephalic pustulosis, erythema toxicum neonatorum, diaper dermatitis, seborrheic dermatitis, and atopic dermatitis. Treatment strategies are also discussed. [Pediatr Ann. 2019;48(1):e16-e22.]. [ABSTRACT FROM AUTHOR]

Although the majority of neonatal skin rashes can be safely monitored without intervention, there are a significant few that are dermatologic emergencies. When called to assess a neonate, it is important to distinguish what requires immediate diagnosis and treatment from those that represent benign etiologies. The skin may be the first clue to certain infections such as herpes simplex virus, syphilis, varicella, cytomegalovirus, fungal infections, and staphylococcal scalded skin syndrome, all of which require immediate testing and some of which may lead to severe sequelae. Cutaneous findings in neonates may also indicate the need for further evaluation. Purpura fulminans, sclerema neonatorum, neonatal lupus, and blueberry muffin rash can be indications of other underlying disorders and are reviewed as well. This article outlines these potential neonatal dermatologic emergencies and highlights the important clinical clues to each. [Pediatr Ann. 2019;48(1):e36-e42.]. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 9‑month‑old girl was referred from the Department of Pediatrics with asymptomatic, congenital skin folds affecting the distal parts of upper and lower extremities, progressively increasing with age; the child was born out of nonconsanguineous parentage, at term by normal vaginal delivery; and he birth weight was 2.7 kg and her growth and developmental milestones were delayed for age.

The article presents a case study of a 38-week term newborn born via vaginal delivery to a previously healthy 24-year-old mother. It discusses the treatment with ceftriaxone and vancomycin without resolution of her fever. It mentions another case of a newborn at 39 weeks gestational age delivered via urgent caesarian section secondary to non-reassuring fetal heart tones to a 21-year old primigravid mother.

This review article will cover common congenital conditions affecting the hand with specific reference to etiology, diagnosis, and treatment. The congenital hand differences that are covered herein are syndactyly, amniotic constriction band, hypoplastic thumb, radial polydactyly, vascular anomalies, and radial longitudinal deficiency. The reader is provided with a brief review of each of these conditions. [ABSTRACT FROM AUTHOR]

Hearing is one of the most important sense organs for man. Hearing loss is often associated with delayed speech and language development in young children. Early identification and intervention improves the chance a child gets to lesser delays in development and improving the overall quality of life. To find out the prevalence of hearing loss in neonates in the rural taluka of Maval, Pune, Maharashtra, India. Prospective Non Randomized Clinical Study. The study was carried out between April 2012 and April 2015. A total of 8192 babies were screened across various centers around the Maval area. The babies who had some high risk factors were 1683 in number and babies who had no high risk factors i.e. well babies were 6509. In our study, the overall prevalence of hearing loss in neonates in Maval taluka of Maharashtra was found to be 3.54 per 1000 live births, in normal born neonates (well babies) was 1.689 per 1000 births, in high risk babies was 10.69 per 1000 high risk births. The prevalence of low birth weight neonates, hyperbilirubinemia neonates and neonates with craniofacial abnormalities developing hearing impairment was found to be 5.9, 3.56 and 1.18 per 1000 high risk births respectively. India is the second most populated country in the world with nearly a fifth of the world’s population. There is a need for the universal neonatal screening for deafness for earlier detection of deafness and rehabilitation.Level of Evidence: Level IV. [ABSTRACT FROM AUTHOR]

Nonsteroidal anti-inflammatory drugs (NSAIDs) are used as tocolytics, which are medications that suppress uterine contractions for preterm birth prevention. Their effect on cerebral/systemic vascular beds poses the question of whether antenatal NSAID exposure is associated with neonatal hypertension. We performed a retrospective case-control study in a tertiary neonatal intensive care unit, including 40 hypertension cases (hospitalized neonates ≥ 35 weeks with systolic BP > 100 mm Hg on three consecutive days) compared to 134 controls matched by gestational age at delivery, plurality, and delivery date. Cases and controls were compared by antenatal NSAID exposure, other common tocolytics, and maternal/neonatal characteristics and complications. Multivariable logistic regression was used to estimate the odds of hypertension among those with prenatal exposure to NSAIDs versus those without exposure. Newborns with hypertension had a lower gestational age at delivery and increased incidence of neonatal complications, including respiratory distress syndrome, bronchopulmonary dysplasia, surfactant administration, longer duration of ventilation, and history of umbilical artery catheterization. Days of indomethacin exposure were positively associated with greater odds of neonatal hypertension (OR 1.17 [1.00 to 1.38], P = 0.055), even after adjustment for other factors associated with neonatal hypertension. Newborns with hypertension were less likely to have been exposed to calcium channel blockers as a tocolytic. The results of our study suggest an association between prenatal exposure to nonsteroidal anti-inflammatory drugs and neonatal hypertension. Furthermore, our data suggest that prenatal calcium channel blocker exposure may protect against the development of neonatal hypertension. Future multicenter studies are needed to understand the risks of tocolytics and subsequent consequences in preterm infants. [ABSTRACT FROM AUTHOR]

Purpose: The effects of therapeutic hypothermia (TH) on hemodynamics in newborns with hypoxic-ischemic encephalopathy (HIE) were evaluated.Materials and Methods: Thirty-two neonates (gestational age, 39.4 ± 1.3 weeks) who had TH for HIE and echocardiographic hemodynamic assessments during TH and post-TH period were studied. Gestational-age-matched 34 healthy neonates were enrolled for comparison.Results: During TH, patients had significantly decreased left ventricular cardiac output (LVCO), descending aorta blood flow (DABF), and DABF/LVCO ratio, and increased resistive index of DA compared to controls. Upper body blood flow (UBBF) remained unchanged but UBBF/LVCO ratio significantly increased during TH. Urine output decreased significantly during TH and increased after rewarming, and showed significant positive correlation with DABF/LVCO ratio. Sixteen patients (50%) showed hypoxic-ischemic (HI) lesions on brain magnetic resonance imaging (MRI) and had significantly increased UBBF/LVCO ratio during TH compared to patients without HI lesions. Patients with UBBF/LVCO ratio >55% had significantly higher risk of having HI lesions on brain MRI (odds ratio 13.0; 95% CI, 2.4-70.2).Conclusions: Decrease in cardiac output and descending aorta blood flow, and preferential cerebral redistribution of cardiac output along with an increase in systemic peripheral vascular resistance may affect systemic organ perfusion and cerebral metabolism. [ABSTRACT FROM AUTHOR]

Background: Sequence optimization in neonates might improve detection sensitivity of abnormalities for a variety of conditions. However this has been historically challenging because tissue properties such as the longitudinal relaxation time and proton density differ significantly between neonates and adults.Objective: To optimize the magnetization-prepared rapid gradient echo (MP-RAGE) sequence to enhance both signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) efficiencies.Materials and methods: We optimized neonatal MP-RAGE sequence through (1) reducing receive bandwidth to decrease noise, (2) shortening acquisition train length (acquisition number per repetition time or total number of read-out radiofrequency rephrasing pulses) using slice partial Fourier acquisition and (3) simulating the solution of Bloch’s equation under optimal receive bandwidth and acquisition train length. Using the optimized sequence parameters, we scanned 12 healthy full-term infants within 2 weeks of birth and four preterm infants at 40 weeks’ corrected age.Results: Compared with a previously published neonatal protocol, we were able to reduce the total scan time by reduce the total scan time by 60% and increase the average SNR efficiency by 160% (P<0.001) and the average CNR efficiency by 26% (P=0.029).Conclusion: Our in vivo neonatal brain imaging experiments confirmed that both SNR and CNR efficiencies significantly increased with our proposed protocol. Our proposed optimization methodology could be readily extended to other populations (e.g., older children, adults), as well as different organ systems, field strengths and MR sequences. [ABSTRACT FROM AUTHOR]

Objectives: In sacrococcygeal teratoma, the presence of high‐output cardiac failure resulting from arteriovenous shunting through the large tumor has been associated with an adverse outcome. The objective of this study was to determine whether the tumor size and cardiac biomarkers in cord blood can predict neonatal survival in sacrococcygeal teratoma. Methods: The study population consisted of 25 neonates with sacrococcygeal teratoma. Tumor size was calculated by the ellipsoid formula using dimensions measured by antenatal ultrasound ([length × width × depth in cm] × 0.52= volume in cm3). To adjust the gestational age, the tumor volume index (tumor volume/biparietal diameter) was adopted in the analysis. Cardiac biomarkers for heart failure (N‐terminal pro‐B‐type natriuretic peptide [NT‐pro‐BNP] and cardiac troponin T [cTnT]) were measured in cord blood taken at the time of delivery. Results: The rate of neonatal death was 24% (6 of 25). The cases that resulted in neonatal death had a higher tumor volume index and higher concentrations of NT‐pro‐BNP and cTnT than those with survival. A tumor volume index of greater than 60 cm3/cm, elevated NT‐pro‐BNP (>2000 pg/mL), and elevated cTnT (>0.08 ng/mL) had sensitivity of 100% for prediction of neonatal death. Conclusions: The tumor volume index and cord blood biomarkers for heart failure can be promising prognostic markers for neonatal survival in sacrococcygeal teratoma. [ABSTRACT FROM AUTHOR]

EEG signal contains some specific patterns that predict neuro-developmental impairments of a premature newborn. Extracting these patterns from a set of EEG records provides a dataset to be used in machine learning in order to implement an intelligent classification system that predict prognosis of the baby. In a previous work we proved that inter-burst intervals (IBI) found in the EEG records predicts abnormal outcomes of the premature. A bibliographic study on the amplitude of an EEG signal, with the annotations of the neuro-pediatricians, showed that low amplitudes in EEG signal are strongly correlated with an abnormal prognosis of the premature, similar to that of IBI. According to these hypotheses, we present in this paper, a segmentation methodology on the amplitude of bursts intervals of EEG signal into 3 segments: low, medium and high, in addition to the inter-burst intervals. We create a new algorithm that detects 6 important parameters in each interval of these 4 segments. After applying this new methodology, we obtain a new classified dataset that contains 24 parameters extracted from these 4 segments to obtain with gestational age of the preterm and the day of recording 26 input attributes and one output which is the class (normal, sick or risky). Finally we validate the pertinence of these attributes using artificial neural network. [ABSTRACT FROM AUTHOR]

Objective: To describe clinical features and early neurological outcomes in neonatal Chikungunya.Methods: Clinical, pathological and radiological details of neonates with acute encephalitic features and typical rash, later diagnosed as Chikungunya, are presented. Neurodevelopmental evaluation and imaging was done at discharge/three months.Results: Abnormal neurological examination with fever was typical presentation in all 13 babies with/without seizures/peri-oral rashes; 12 had persistent neurological abnormalities at discharge. A follow-up at three months revealed continued neurodevelopmental deficits. Neuroimaging abnormalities were seen in eight out of ten cases.Conclusions: Perinatal Chikungunya should be considered in neonates presenting within first week with fever, encephalopathy and perioral rashes with/without seizures with history of maternal Chikungunya within last week before delivery. [ABSTRACT FROM AUTHOR]

Abstract: Many scientists and doctors hope that affordable genome sequencing will lead to more personalized medical care and improve public health in ways that will benefit children, families, and society more broadly. One hope in particular is that all newborns could be sequenced at birth, thereby setting the stage for a lifetime of medical care and self‐directed preventive actions tailored to each child's genome. Indeed, commentators often suggest that universal genome sequencing is inevitable. Such optimism can come with the presumption that discussing the potential limits, cost, and downsides of widespread application of genomic technologies is pointless, excessively pessimistic, or overly cautious. We disagree. Given the pragmatic challenges associated with determining what sequencing data mean for the health of individuals, the economic costs associated with interpreting and acting on such data, and the psychosocial costs of predicting one's own or one's child's future life plans based on uncertain testing results, we think this hope and optimism deserve to be tempered. In the analysis that follows, we distinguish between two reasons for using sequencing: to diagnose individual infants who have been identified as sick and to screen populations of infants who appear to be healthy. We also distinguish among three contexts in which sequencing for either diagnosis or screening could be deployed: in clinical medicine, in public health programs, and as a direct‐to‐consumer service. Each of these contexts comes with different professional norms, policy considerations, and public expectations. Finally, we distinguish between two main types of genome sequencing: targeted sequencing, where only specific genes are sequenced or analyzed, and whole‐exome or whole‐genome sequencing, where all the DNA or all the coding segments of all genes are sequenced and analyzed. In a symptomatic newborn, targeted or genome‐wide sequencing can help guide other tests for diagnosis or for specific treatment that is urgently needed. Clinicians use the infant's symptoms (or phenotype) to interrogate the sequencing data. These same complexities and uncertainties, however, limit the usefulness of genome‐wide sequencing as a population screening tool. While we recognize considerable benefit in using targeted sequencing to screen for or detect specific conditions that meet the criteria for inclusion in newborn screening panels, use of genome‐wide sequencing as a sole screening tool for newborns is at best premature. We conclude that sequencing technology can be beneficially used in newborns when that use is nuanced and attentive to context. [ABSTRACT FROM AUTHOR]

Sepsis is an important cause of mortality and morbidity in neonatal populations. There has been constant search of an ideal sepsis biomarker that have high sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV), so that both the diagnosis and exclusion of neonatal sepsis can be made at the earliest possible and appropriate antibiotics can be started to neonate. Ideal sepsis biomarker will help in guiding us when not to start antibiotics in case of suspect sepsis and total duration of antibiotics course in case of proven sepsis. There are numerous sepsis biomarkers that have been evaluated for early detection of neonatal sepsis but till date there is no single ideal biomarker that fulfills all essential criteria's for being an ideal biomarker. The most commonly used biomarkers are C-reactive protein (CRP) and procalcitonin (PCT), but both have shown varied sensitivity, specificity, PPV and NPV in different studies. We conducted literature search for various neonatal sepsis biomarkers and this review article will cover briefly all the markers with current available evidence. [ABSTRACT FROM AUTHOR]

BACKGROUND: Perinatal asphyxia is an important cause of morbidity and mortality in the neonatal period, accounting for 20–30% of neonatal mortality. A substantial proportion (estimated at 26%) of the 1 million annual intrapartum stillbirths result from asphyxia. Probably higher than the mortality is the plethora of morbidity associated with asphyxia, especially long term neuro-developmental problems including cerebral palsy. The real burden of perinatal asphyxia is difficult to establish because of paucity of information from the rural communities where the majority of neonatal morbidity and deaths occur. Extended Apgar scores and HIE grade have been identified as predictive tools in prognosticating asphyxia, however HIE staging require a certain level of medical expertise which is not widely available. AIM: To determine the incidence of asphyxia, the mortality rate and factors associated with mortality in Irrua Specialist Hospital. METHOD: It was a descriptive, retrospective study of neonates admitted into the special care baby unit (SCBU) between October 2013 and September 2014 with diagnosis of perinatal asphyxia. Data was obtained from babies' and mother's case notes. The outcome was classified as survived or died. RESULTS: Perinatal asphyxia accounted for 45 out of 347 (13%) of admissions within the review period. The mean gestational age and birth weight of the subjects were 39.2±2.2 weeks and 3020±520 grams respectively. The mortality rate was 31.1% and the factors significantly associated with mortality include lack of antenatal care and HIE stage III. CONCLUSION: The burden of perinatal asphyxia in Irrua Specialist Hospital is comparable to figures from similar settings in the developing world. Lack of antenatal care and HIE stage III are associated with mortality. Continuous efforts should be made to improve the uptake of antenatal care and high risk pregnancies should be delivered in centres with facilities for neonatal care. [ABSTRACT FROM AUTHOR]

In 2013, the National Health Service Commissioning board centralized the funding in England for up to three cycles of pre-implantation genetic diagnosis (PGD) for couples who have, or are carriers of, a specific genetic disorder. This study presents the historical data of PGD cycles and their clinical outcomes in UK as extrapolated from the national data registry. Retrospective analysis of outcome of cycles undergoing pre-implantation genetic diagnosis in the UK over the past 20 years was performed from the Human Fertilisation and Embryology Authority database (n = 2974). Binary logistic regression was used to determine trends over time and adjusted for maternal age. Briefly, the number of PGD cycles has risen 127-fold from 1991 to 2012 with 3.6-fold increase (360% rise) from 2004 to 2012. A total of one in four embryos following pre-implantation genetic diagnosis did not reach embryo transfer and 92% of these were due to a failure to survive. The live birth rate has risen over 20 years and there has been a steady decline in reported incidence of congenital abnormalities (p < 0.07). PGD has thus emerged as a safe and effective alternative to prenatal diagnosis but with ever evolving technological advances, a robust system of data collection that incorporates techniques used and reporting of mutation-specific clinical outcomes is suggested. [ABSTRACT FROM AUTHOR]

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Historically, there has been limited neuro-imaging data acquired on infants with mild neonatal encephalopathy (NE). This likely reflects the traditional assumption that these infants had a universally good prognosis. As new evidence has emerged challenging this assumption, there has been a renewed interest in the neuro-imaging findings of these infants. To date, magnetic resonance imaging (MRI) studies in infants with mild NE have demonstrated abnormalities in 20-40% of cases suggestive that the injury occurs during the peripartum period with a predominant watershed pattern of injury. The severity of the injury on MRI in infants with mild NE varies, but includes patterns of injury that have been associated with long-term neuro-developmental impairment. [ABSTRACT FROM AUTHOR]

Background: The safest delivery mode of extremely preterm breech singletons is unknown.Objectives: To determine safest delivery mode of actively resuscitated extremely preterm breech singletons.Search Strategy: We searched Cochrane CENTRAL, MEDLINE, EMBASE, CINAHL and ClinicalTrials.gov from January 1994 to May 2017.Selection Criteria: We included studies comparing outcomes by delivery mode in actively resuscitated breech infants between 23+0 and 27+6 weeks.Data Collection and Analysis: We synthesised data using random effects, generated odds ratios, 95% confidence intervals and number-needed-to-treat (NNT). Our primary outcomes were death (neonatal, before discharge, or by 6 months) and severe intraventricular haemorrhage (grades III/IV), stratified by gestational age (23+0 -24+6 , 25+0 -26+6 , 27+0 -27+6 weeks).Main Results: We included 15 studies with 12 335 infants. We found that caesarean section was associated with a 41% decrease in odds of death between 23+0 and 27+6 weeks [odds ratio (OR) 0.59, 95% CI 0.36-0.95, NNT 8], with the greatest decrease at 23+0 -24+6 weeks (OR 0.58, 95% CI 0.44-0.75, NNT 7). The OR at 25+0 -26+6 and 27+0 -27+6 weeks were 0.72 (95% CI 0.34-1.52) and 2.04 (95% CI 0.20-20.62), respectively. We found that caesarean section was associated with 49% decrease in odds of severe intraventricular haemorrhage between 23+0 and 27+6 weeks (OR 0.51, 95% CI 0.29-0.91, NNT 12), whereas the OR at 25+0 -26+6 and 27+0 -27+6 was 0.29 (95% CI 0.07-1.12) and 0.91 (95% CI 0.27-3.05), respectively.Conclusions: Caesarean section was associated with reductions in the odds of death by 41% and of severe intraventricular haemorrhage by 49% in actively resuscitated breech singletons < 28 weeks of gestation. The data are mostly observational, which may be inherently biased, and scarce on other morbidities, necessitating thorough discussion between parents and clinicians.Tweetable Abstract: Caesarean section associated with lower odds of death and severe intraventricular haemorrhage in actively resuscitated breech singletons <28 weeks. [ABSTRACT FROM AUTHOR]

Spinal ultrasonography is a safe, rapid, and non-invasive diagnostic tool that allows visualization of the spinal cord and its surrounding meninges. The non-ossified spinous processes were used as an acoustic window for imaging the spinal cord in human and canine neonates. No available literatures have been published describing the ultrasonographic appearance of caprine neonatal spinal cord. The present study was performed on 20 one day-old goat kids. Sagittal and transverse ultrasound scans were obtained using 8 MHz linear transducer. The spinal cord appeared as a tubular anechoic to hypoechoic structure within the spinal canal. The cord was surrounded by hyperechoic dura and pia matter as well as the anechoic subarachnoid space in-between. The mean sagittal diameter of the cord at the cervical region was (4.6 ± 0.3 mm), the thoracic region (3.9 ± 0.2 mm), and the lumbar region (4.3 ± 1.1 mm). The sagittal diameter of the cord at the cervical and lumbar regions was significantly wider than the diameter at the thoracic region. Identification of the normal ultrasonographic appearance of caprine neonatal spinal cord may represent the basis for diagnosing congenital spinal cord lesions. [ABSTRACT FROM AUTHOR]

Aim: Our aim was to study prospectively the aetiology of neonatal conjunctivitis in a population-based setting.Methods: Altogether 173 neonates with clinical conjunctivitis aged on average 20 (SD 10) days were recruited from child welfare clinics in Oulu, Finland, in 2010-2015. Conjunctival specimens were collected from 167 neonates for multiplex polymerase chain reaction to detect 16 respiratory viruses, from 163 for polymerase chain reaction to detect Chlamydia trachomatis and Neisseria gonorrhoeae and from 160 for bacterial culture studies. The cases were followed up until the age of 18 months.Results: Viral conjunctivitis was diagnosed in 8/167 (4.8%; 95% CI 2.1-9.2%), chlamydial or gonococcal conjunctivitis in 0/163 cases (0%; 95% CI 0-2.2%) and other bacterial conjunctivitis in 58/160 (36%; 95% CI 29-44%). Rhinovirus was found at the ocular site in 4/167 (2.4%) neonates, adenovirus in 3/167 (1.8%) and bocavirus in 1/167 (0.6%). The most commonly isolated bacteria included Staphylococcus aureus (16%), Moraxella catarrhalis (9.4%) and Streptococcus pneumoniae (3.1%). None of these pathogens was associated with the 4/173 (2.3%) cases later operated on for persistent nasolacrimal duct obstruction.Conclusion: Chlamydia trachomatis was a rare pathogen in neonatal conjunctivitis in a population-based setting, but respiratory viruses were detected more frequently than indicated earlier. [ABSTRACT FROM AUTHOR]

Background: In the developing countries, neonatal sepsis (NNS) contributes significantly to neonatal admissions and deaths. Its symptoms are usually nonspecific, and definitive laboratory diagnosis can be challenging in a resource-limited setting. Therefore, early empirical antibiotic therapy antibiotics are important in these localities, and this makes it important to document local organisms and their antibiotic sensitivity pattern. Unfortunately, no previous study in our setting has documented these. Methods: This study involved newborns (inborn and outborn) admitted with sepsis (cases) within the 1st month of life at the Enugu State University Teaching Hospital (ESUTH), Enugu, Southeast Nigeria. Controls were included for the analysis, and data were collected over a 4-year period from January 2013 to December 2016. Results: In all, 1920 newborns were admitted to the Special Care Baby Unit of ESUTH during the study period. Fifty-seven were managed for culture-proven sepsis, resulting in an in-hospital incidence rate of 29.7 per 1000 admitted newborns (95% confidence interval 21.9–37.4). A total 228 newborns were recruited (57 cases and 171 controls; ratio of 1:3). The most common presenting symptom and sign were fever (84.2%) and depressed primitive reflexes (50.9%), respectively. A case-fatality rate of 7.4% was observed. Newborn's place of birth (P = 0.02) and the final outcome (P = 0.004) were significantly associated with the development of sepsis, while gender (P = 0.12), birth weight (P = 0.33), gestational age (P = 0.53), and mode of delivery (P = 0.74) were not. Nearly 60% of the organisms implicated were coliforms, while one-quarter were Staphylococcus aureus. The most sensitive antibiotics were the fluoroquinolones, particularly ciprofloxacin, while amoxicillin, ampicillin, and clindamycin were generally not effective. Conclusion: NNS in our environment is commonly caused by coliforms and S. aureus and being outborn is a significant determinant. Antibiotic resistance follows recognized patterns, but the quinolones, despite their inconclusive safety profile in children, are most sensitive. [ABSTRACT FROM AUTHOR]

More than 27,000 human genes have been sequenced and described. Only a few of these genes are relevant for common human diseases with regard to diagnostic or therapeutic purposes. This review describes the genetics of common traits and diseases with a particular focus on perspectives for drug discovery and drug therapy in neonates. [ABSTRACT FROM AUTHOR]

We evaluated the feasibility of a multi-feature mismatch negativity (MMN) paradigm in studying auditory processing of healthy newborns. The aim was to examine the automatic change-detection and processing of semantic and emotional information in speech in newborns. Brain responses of 202 healthy newborns were recorded with a multi-feature paradigm including a Finnish bi-syllabic pseudo-word/ta-ta/as a standard stimulus, six linguistically relevant deviant stimuli and three emotionally relevant stimuli (happy, sad, angry). Clear responses to emotional sounds were found already at the early latency window 100–200 ms, whereas responses to linguistically relevant minor changes and emotional stimuli at the later latency window 300–500 ms did not reach significance. Moreover, significant interaction between gender and emotional stimuli was found in the early latency window. Further studies on using multi-feature paradigms with linguistic and emotional stimuli in newborns are needed, especially those containing of follow-ups, enabling the assessment of the predictive value of early variations between subjects. [ABSTRACT FROM AUTHOR]

Background: Our goals were to screen newborns and characterize the occurrence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in southwestern China. Meanwhile, we would like to analyze the factors that might affect the results of neonatal dried blood spots for glucose-6-phosphate dehydrogenase screening test, to improve the clinical quality control level, effectively reduce the external factors in the process of detection. Methods: This study involved an evaluation of G6PD data for 20,644 newborns from a universal newborn screening program. Heel prick blood specimens were collected around 72 hours after birth and were dried on filter papers. For G6PD deficiency the fluorescent spot test was employed. We studied the association between incidence of G6PD deficiency and influence factors. Results: This study involved an evaluation of G6PD data for 20,644 neonatal heel prick blood samples from 10,984 males and 9,660 females. There were 503 positive results for G6PD deficiency (299 males and 204 females), and the G6PD deficiency-positive rate was estimated to be around 2.4%. The gender-specific prevalence for males was 2.7%, and for females 2.1%. Multiple factors may influence the result of the G6PD test, such as season, temperature, and specimen of indwelling time. Conclusions: This study analyzed the prevalence of G6PD deficiency in Sichuan, China. Accelerating the speed of sample delivery and ensuring availability of screening results can aid the screening and diagnosis. [ABSTRACT FROM AUTHOR]

Background: Herpes simplex virus (HSV) infection represents significant morbidity and mortality in the neonatal period. Although clear guidelines exist on the evaluation and management of the otherwise well-appearing febrile neonate pertaining to occult serious bacterial infections, there is no standardized approach regarding when to initiate testing and treatment for HSV infection. It is vital we establish a unified guideline based on available clinical research to aid in our decision to evaluate and initiate therapy for this disease.Methods: A PubMed search was performed using the keywords "neonate AND fever AND HSV" and "neonate AND fever AND acyclovir." The time period for the search was May 1982 to May 2016. Identified articles underwent further selection based on relevance to the clinical question. Selected articles then underwent detailed review and structured analysis.Results: Our search identified 93 articles, of which 18 were found to be relevant to our clinical question. Recommendations were then made based on thorough review and analysis of the selected articles.Conclusions: Neonatal HSV infection carries significant morbidity and mortality if left untreated. High-quality clinical evidence on when to evaluate and treat for possible HSV infection is lacking. Based on available research, HSV infection in the febrile neonate should be strongly considered if age is < 21 days, or if presenting with concerning clinical features. If testing is performed, empiric treatment with high-dose acyclovir should be initiated. Additional research is needed to further clarify which cases mandate evaluation and treatment for HSV, and to better define treatment protocols. [ABSTRACT FROM AUTHOR]

Aim: There is no evidence on the effect of universal ultrasound screening on developmental dysplasia of the hip. We examined the impact of adding an ultrasound examination to a one examiner clinical screening strategy on treatment, follow-up rates and the number of cases detected late in a low-prevalence population.Methods: All eligible babies born at Kongsberg Hospital, Norway, from 1998 to 2006 (n = 4245) underwent both clinical and ultrasound hip examinations within three days of life. Indications for immediate treatment were positive Barlow or Ortolani manoeuvres and, or, sonographic dysplasia. Sonographic immature hips were followed until normalisation. Treatment rates and rates from the 1989 to 1997 prestudy period (n = 3594), including late diagnoses, were collected from hospital records.Results: Treatment was initiated in 90 (2.1%) infants (74 girls), 63 (70%) from birth, compared to 33 (0.9%) during the prestudy period. The follow-up rate did not change (11%). There were two (0.5/1000) and four (1.0/1000) cases detected late, respectively. No one underwent surgery during the first year of life and no avascular necrosis was seen.Conclusion: Adding universal ultrasound to clinical screening performed by the same, experienced paediatrician doubled the treatment rate, without influencing the already low numbers of late cases. [ABSTRACT FROM AUTHOR]

Background: Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature. Case presentation: We have assessed one consanguineous Saudi family with typical features of VDEGS. Two siblings were affected with almost identical features; including blepharophimosis, arachnodactyly, flexion contractures of the elbows, camptodactyly, slender ribs, hooked lateral clavicular ends, and bilateral radial head dislocations. Both patients had several unusual features; including joint laxity, flat feet, recurrent patellar dislocations, and bilateral short distal ulnae. Full sequencing of SCARF2 revealed a homozygous mutation c.773G > A (p. Cys258Tyr) in both affected children. The parents (both with no abnormalities) were heterozygous for the same mutation. Conclusion: Joint laxity, recurrent patellar dislocations, and short distal ulnae should be included as part of the clinical spectrum of VDEGS. [ABSTRACT FROM AUTHOR]

Background: despite the worldwide recognition of the importance of pre-screening education of parents, the current body of evidence suggests that parents often receive little information about neonatal screening (NS) and may even be unaware about the screening of their baby. Aim of the work: this study aimed to assess the attitudes and knowledge of the Saudi women towards the NS program and their psychological impact. Methods: we performed a cross-sectional study on mothers during the postpartum hospitalization period at health care facilities in the Eastern Region of the Kingdom of Saudi Arabia. A modified version of the Maternal Attitudes and Knowledge about Newborn Screening Survey was used to assess the attitudes and knowledge of the women towards the NS program. Results: we retrieved 388 surveys. Twenty-five percent of the women acquired their knowledge about NS programs from the internet. Eighty-two percent of the women had healthy children and 42% of them think that the best time to know about NS programs is at the time of screening itself. Our analysis showed a significant association between the educational level and knowledge about the best time to learn about neonatal screening (p=0.0001). Almost half of the women who had one child stated that the screening should take place 2-3 months before the baby is born (p=0.018). The child health status was also associated with the knowledge that if the baby's newborn test is abnormal I might have something wrong with my DNA (p=0.015). It was also associated with knowing that NS will test for common diseases that run in families like diabetes, asthma and heart disease (p=0.02). Conclusion: Saudi women had a positive attitude, but with little knowledge towards the NS program. Further studies are needed to assess the predictors of different levels of knowledge. [ABSTRACT FROM AUTHOR]

Aim: Evaluation of comfort and pain in neonates is important for management. Specific signs of persistent pain in neonates remain undefined; few validated clinical tools assess persistent pain. We sought to determine (i) difficulty perceived by staff and parents in assessing comfort/persistent pain in babies, (ii) strategies employed when no clinical tool is used and (iii) variation between clinicians' assessments.Methods: Parent and staff questionnaires addressed difficulty in assessing pain/comfort in neonates and strategies used in making assessments.Results: A total of 47 of 50 (94%) parents and 83 of 91 (91%) staff participated; 50% of staff reported it was moderately/very difficult to assess persistent pain, and 13% very easy; 75% of parents found it moderately/very easy and 23% difficult to assess their baby's comfort; 15% of parents thought staff found pain assessment difficult. Staff described 94 different factors indicative of comfort and 139 factors of persistent pain. Terminology differed widely and was often nonspecific; 67% of staff described forming a 'general impression'.Conclusion: Pain assessment is challenging for staff. Most parents feel confident in assessing their babies' comfort, but may overestimate the ease with which staff can do so. Indicators of persistent pain/comfort are poorly defined; staff use differing, subjective assessments, which may complicate communication between carers. [ABSTRACT FROM AUTHOR]

Objective: to analyze the anxiety level of the mothers of newborns with congenital malformations who were diagnosed in prenatal and postnatal care. Methods: a cross-sectional study with 115 mothers of 117 newborns with congenital malformation admitted to three neonatal units. A questionnaire containing maternal and neonatal variables was used, as well as the Trait-State Anxiety Inventory. Data were analyzed by Student's t-test and Kolmogorov-Sminorv test. The anxiety level was categorized as low (percentile <25), moderate (25-75) and high (> 75), with a significance level of 5%. Results: most mothers had moderate levels of anxiety. Regarding the diagnosis of the malformation, 57% received the news in the prenatal and 43% in the postnatal period. The anxiety level of those who received the prenatal diagnosis was lower than those who received in the postnatal period, evaluated by the Trait Anxiety Inventory (p = 0.026). Conclusion: mothers of newborns with malformations presented moderate anxiety, and this was higher when the diagnosis was given in the postnatal period. The use of the Trait-State Anxiety Inventory can provide guidance to other studies and to clinical practice. [ABSTRACT FROM AUTHOR]

The aims of this study are to examine how frequently near-term and term small-for-gestational-age (SGA) infants were investigated in our clinical practice, whether being born less than the third centile for weight increased the yield of positive investigations, and whether there were additional characteristics in infants with positive investigations. This retrospective cohort study was compiled using a database of a large maternity network, using the search near term and term gestational age (greater than or equal to 35 weeks) over a span of 4 years. SGA babies were further filtered into less than the tenth centile and third centile. Out of a population of 30,461 infants in the study period, 3437 (11.3%) SGA infants were identified. Four hundred fifteen SGA infants (12.1%) underwent screening investigations, of which 49 infants (11.8%) yielded a positive investigation. 27.2% of karyotypes, 12.8% of cranial ultrasounds and 0.4% of urine CMV tests showed positive results in < 10th centile group. Being born less than the third centile for weight did not increase the yield of positive investigations. Most infants with positive investigations had an additional maternal or neonatal characteristic or risk factor present.Conclusion: SGA babies without additional maternal or neonatal characteristics have a poor yield on neonatal screening investigations. Additional characteristics may be considered while deciding whether a SGA infant needs screening investigation. What is Known: • Small-for-gestational-age (SGA) infants have an increased risk of short- and long-term complications. • Whilst the causes for SGA are multifactorial, there has been a tendency to undertake screening investigations like Toxoplasma, Others, Rubella, Cytomegalovirus, Herpes group of viruses (TORCH) screening and cranial ultrasounds in the neonatal period. What is New: • Comprehensive study investigating the rates of screening in near-term and term SGA population. • The yield of screening tests for near-term and term SGA infants without additional antenatal and postnatal characteristics is low. [ABSTRACT FROM AUTHOR]

Background Methylation defects at chromosome 6q24 usually induce transient neonatal diabetes mellitus. There are few reports of permanent neonatal diabetes mellitus caused by abnormalities of 6q24. We report the first case of permanent neonatal diabetes mellitus to be associated with confirmed methylation defects at chromosome 6q24. Case report A baby girl, small for her gestational age, was found to have high blood glucose 1 day after birth, with no systematic congenital anomalies. She showed no remission of diabetes and has hitherto been reliant on insulin (now aged of 5.5 years), which supports a diagnosis of permanent neonatal diabetes mellitus. The single nucleotide polymorphism array and highly polymorphic short tandem repeat analysis identified paternal uniparental disomy of chromosome 6, and a genome-wide analysis ruled out mutations in coding and non-coding regions. Conclusion This report expands the varieties of neonatal diabetes known to be induced by methylation defects at chromosome 6q24, and suggests that the diagnostic evaluation of permanent neonatal diabetes mellitus should be expanded to include testing for 6q24. [ABSTRACT FROM AUTHOR]

Although congenital diaphragmatic hernia (CDH) primarily presents in either the prenatal or neonatal period, late presentation has a reported incidence of 2.5–25%. This case report describes an 8-month-old-male who presented to the emergency department with dehydration and a 24-h history of bilious emesis. Work-up led to the diagnosis of a left-sided Bochdalek CDH. He subsequently underwent laparoscopic diaphragmatic hernia repair with reduction of near-total length of incarcerated bowel. The patient had an uneventful recovery. Babies born with CDH are typically unstable at birth, and even with repair, the mortality rate remains high. However, in the case of delayed CDH diagnosis where there are no perinatal issues, surgical repair has very high success rates, provided that there are no complications regarding the delay. If there is not a high index of suspicion based on the patient's history and exam, delayed diagnosis and intervention with late CDH presentations can lead to complications which could otherwise be minimized. The purpose of this case report is to raise awareness and contribute to the growing knowledge about delayed CDH presentation among physicians and surgeons to facilitate early diagnosis and care of a morbid yet manageable condition. [ABSTRACT FROM AUTHOR]

Evidence is increasingly showing that prematurity results in chronic kidney disease. We hypothesized that we could use ultrasound imaging to measure and monitor the growth of the renal parenchyma in premature neonates. We conducted a prospective, case-control study to compare renal parenchymal growth between neonates born prematurely and term neonates. The study patients underwent ultrasound assessment at 32 wk postmenstrual age (PMA) and 37 wk PMA. Term neonates (gestation >37 completed wk) admitted to the neonatal unit with minor neonatal conditions were recruited into the control group. Complete data sets were available in 91 premature neonates and during the same period, 56 term neonates were recruited as the control. The median birth weight (preterm babies) was 930 g (780-1220 g), and the mean gestational age was 27.0 wk (2.1 wk). Total renal volume (TRV) increased from 14.6 (4.3) cm3 to 20.5 (5.3) cm3 from 32 to 37 wk PMA. During the same period, the total renal parenchyma (TRP) thickness increased from 1.6 (0.3) cm to 1.8 (0.3) cm. At 37 wk PMA, ex-premature neonates have a significantly smaller total renal volume (20.5 [5.3] versus 25.9 [6.4] cm3; p < 0.001) and total renal parenchyma thickness (1.8 [0.3] versus 2.0 [0.2] cm; p = 0.015) compared with term (control) neonates. However, premature neonates at 37 wk PMA have a larger TRP:TRV ratio compared with term neonates (0.09 [0.02] versus 0.0 8 [0.02] cm-2; p < 0.001). Reduced nephron endowment as a result of prematurity may cause the remaining nephrons to undergo compensatory glomerulomegaly and we postulate this is the reason for the observed differences. Ultrasound imaging of the renal parenchyma shows promise in assessing the effects of prematurity on the developing kidney. [ABSTRACT FROM AUTHOR]

Background: Anti-human neutrophil antigen (HNA) antibodies have been implicated in the development of neonatal alloimmune neutropenia (NAN) and autoimmune neutropenia (AIN). There are many conventional assay methods that detect anti-HNA antibodies. However, a method to measure multiple samples and detect several anti-HNA antibodies simultaneously is needed.Study Design and Methods: We developed a new method, the extracted granulocyte antigen immunofluorescence assay (EGIFA), to analyze anti-HNA-1a, -1b, and -2 antibodies in sera. The results obtained by EGIFA were evaluated in comparison with those from several standard assay methods. Anti-HNA antibodies in serum samples from nine familial cases with suspected NAN (n = 19) and children with suspected AIN (n = 88) were also measured by EGIFA.Results: The evaluation of nine serum samples with anti-HNA antibodies suggested that EGIFA demonstrated equivalent specificity and superior sensitivity to monoclonal antibody-specific immobilization of granulocyte antigens and had comparable sensitivity to the granulocyte indirect immunofluorescence test. EGIFA successfully detected anti-HNA-1a or -1b antibodies in seven of nine familial cases with suspected NAN. EGIFA detected anti-HNA antibodies in 40.9% of children with suspected AIN. Among them, isolated anti-HNA-1a or -1b antibody was detected in 4.5 or 12.5% of children, respectively, and anti-HNA-2 antibody was identified in 3.4% of children. The 30.8% (16 of 52) of children negative for anti-HNA antibody by EGIFA were positive for anti-HLA antibody.Conclusion: EGIFA facilitated the measurement of anti-HNA-1a, -1b, and/or -2 antibodies in sera. The prompt measurement of anti-HNA antibodies will improve the diagnosis and clinical management of patients with suspected NAN or AIN. [ABSTRACT FROM AUTHOR]

When newborn screening (NBS) for congenital hypothyroidism (CH) using thyroid-stimulating hormone (TSH) as a primary screening test was introduced, typical TSH screening cutoffs were 20-50 U/L of whole blood. Over the years, lowering of TSH cutoffs has contributed to an increased prevalence of detected CH. However, a consensus on the benefit deriving from lowering TSH cutoffs at screening is lacking. The present paper outlines arguments both for and against the lowering of TSH cutoffs at NBS. It includes a review of recently published evidence from Australia, Belgium and Italy. A section focused on economic implications of lowering TSH cutoffs is also provided. One issue that bears further examination is the extent to which mild iodine deficiency at the population level might affect the association of neonatal TSH values with cognitive and developmental outcomes. A debate on TSH cutoffs provides the opportunity to reflect on how to make NBS for CH more effective and to guarantee optimum neurocognitive development and a good quality of life to babies with mild as well as with severe CH. All authors of this debate article agree on the need to establish optimal TSH cutoffs for screening programs in various settings and to ensure the benefits of screening and access to care for newborns worldwide. [ABSTRACT FROM AUTHOR]

Hepatitis E virus ( HEV) infection can be vertically transmitted, but the factors that transmit the disease to foetuses are still unclear. We studied a total of 144 pregnant women with HEV infection. Cord blood and newborn samples were taken for analysis. Nutritional factors were evaluated on the basis of anthropometric parameters and biochemical factors, and HEV viral load was quantified by real-time PCR. Sequencing of HEV-positive samples was performed. Approximately 14.63% (6/41) of pregnant patients with acute liver failure ( ALF) died before delivery. Vertical transmission was observed in 46.09% (59/128) of HEV-IgM-positive mothers. Approximately 23.80% (10/42) of newborns in the acute viral hepatitis group and 29.41% (5/17) in the ALF group were positive for HEV- RNA. No significant difference was observed in the occurrence of vertical transmission in HEV groups. Viral load was found to be a significant predictor for vertical transmission of HEV infection adjusted with haemoglobin and folate in derivation cohort group. Incorporating these variables, a new score predicting vertical transmission of HEV was derived. Using these significant predictors, the probability for vertical transmission of HEV was well stratified in the validation group ( P>.05). In conclusion, viral load was associated with vertical transmission of HEV infection. A valid prediction score model was generated that was verified in a validation cohort group. [ABSTRACT FROM AUTHOR]

Background: Despite the advancements in antenatal diagnostic and postnatal management in neonates with esophageal atresia (EA)/tracheoesophageal fistula (TEF) resulting in better survival rates in the developed world, the outcome still remains poor in developing countries. Materials and Methods: Retrospective analysis of medical records of neonates who were operated for EA/TEF from 1991 to 2015 at our center was done. Results: A total of 693 neonates were operated during the study period with male-to-female ratio 1.9:1. Mean birth weight was 2300 ± 840 g and mean gestational age was 36 ± 4 weeks. Prenatal diagnosis with ultrasonography screening was done in only 9% cases. Mean age of neonates at referral was 4.3 ± 1.5 days. Frothing from mouth and tachypnea were the most common presenting features seen in 94% and 78% neonates, respectively. Type III EA was the most common variety seen. Incidence of associated anomalies was 52% with congenital heart disease being most common. Overall postoperative survival rate of 57% was observed. In the past 10 years of study, survival improved to 64% in comparison to 48% during initial 15 years. Poor prenatal supervision, aspiration pneumonia, prematurity, low birth weight, delayed referral and inadequate transport facilities, associated congenital anomalies, and lack of advanced Neonatal Intensive Care Units (NICUs) facilities were the important contributing factors for high mortality. Conclusion: In developing countries, only improving the NICUs and surgical techniques will not deliver a better outcome in neonates with EA/TEF. Emphasis should be on the strengthening of peripheral health services and transport facilities to achieve good survival rates. [ABSTRACT FROM AUTHOR]

Congenital Cytomegalovirus infection (cCMV) is the most common cause of congenital infections worldwide that can cause long-term impairment (LTI). The metabolic alterations due to cCMV are largely unknown. This study aims to assess the metabolites included in the neonatal screening in relation to cCMV and cCMV outcome, allowing the identification of prognostic markers for clinical outcome. Essential amino acids, hormones, carnitines and enzymes from Dried Blood Spots (DBS) were analyzed of 102 children with cCMV and 179 children without cCMV, and they were related to symptoms at birth and LTI at 6 years of age. In this cohort, the neonatal screening parameters did not change in relation to cCMV, nor to symptoms at birth or LTI. However, metabolic changes were observed in children born preterm, with lower concentrations of essential amino acids in premature infants with cCMV compared to premature controls. Finally, a higher concentration of palmytoilcarnitine (C16) in the group with higher viral load was observed. Though these data demonstrate limitations in the use of neonatal screening data as predictors for long-term cCMV outcome, the metabolism of preterm neonates with cCMV merits further evaluation. [ABSTRACT FROM AUTHOR]

Background & objective: Perinatal asphyxia affects all organs of the body and brain is the most affected organ. The study was undertaken to find out the status of serum magnesium and calcium level and their significant association among asphyxiated term newborns with moderate to severe HIE. Material & methods: The Cross sectional study was done in the Department of Neonatology, Dhaka Medical College Hospital during January 2012 to July 2012. A total of 102 asphyxiated term neonates were enrolled, who has H/O perinatal asphyxia and had Apgar score of 6 or <6 at 5 minutes. Clinical grading of HIE into moderate and severe was done according to modified Sarnat and Sarnat scoring system .Under aseptic precautions with standard protocol, estimation of serum magnesium and calcium level in venous blood was done at 48 hours and 7th day of birth . Among the study population, 17 patients had died during follow up and 4 patients were absconded. Finally 81 patients were evaluated by both blood samples though initial 102 cases were evaluated by their first sample. 50 normal healthy infants were also evaluated for serum magnesium and calcium at their 48 hours of birth. Chi-square test was used to assess statistical significance, Pearson correlation coefficient test was done to find out correlation between serum magnesium and calcium status and APGAR score & t test was done to assess the comparison between the values of serum magnesium and calcium found on two occasions. Results: Of 102 cases majority (58%) were male. Most of the cases (65.68%) were moderate HIE. Mean serum magnesium was 1.36(0.9-2.8) mg/dl and 1.16(.88-2.6) mg/dl among HIE II and HIE III respectively (p<0.05). Mean serum calcium of HIE II and HIE III were 7.14(5.1-9.6) mg/dl and 6.58(5.3-9.0) mg/dl respectively (p<0.05). There is positive correlation with individual APGAR score with serum magnesium (r=0.229, p=0.02) and serum calcium (r=0.231, p=0.019) level. Hypocalcaemia was found 35.82% and 57.14% among HIE II And HIE III cases respectively (p<0.01). Hypomagnesaemia was found 28.36% and 45.71% among HIE II and HIE III (p<0.05). Conclusion: Hypomagnesaemia and hypocalcaemia are significantly associated with the degree of severity of HIE. [ABSTRACT FROM AUTHOR]

Background: Deep nuclear gray matter injury in neonatal hypoxic-ischemic encephalopathy (HIE) is associated with worse neurodevelopmental outcomes. We previously published a qualitative MRI injury scoring system utilizing serial T1-weighted, T2-weighted and diffusion-weighted imaging (DWI), weighted for deep nuclear gray matter injury.Objectives: To establish the validity of the MRI scoring system with neurodevelopmental outcome at 18-24 months.Materials and Methods: MRI scans from neonates with moderate to severe HIE treated with therapeutic hypothermia were evaluated. Signal abnormality was scored on T1-weighted, T2-weighted and DWI sequences and assessed using an established system in five regions: (a) subcortical: caudate nucleus, globus pallidus and putamen, thalamus and the posterior limb of the internal capsule; (b) white matter; (c) cortex, (d) cerebellum and (e) brainstem. MRI injury was graded as none, mild, moderate or severe. Inter-rater reliability was tested on a subset of scans by two independent and blinded neuroradiologists. Surviving infants underwent the Bayley Scales of Infant and Toddler Development-III (Bayley-III) at 18-24 months. Data were analyzed using univariate and multivariate linear and logistic regression.Results: Fifty-seven eligible neonates underwent at least one MRI scan in the first 2 weeks of life. Mean postnatal age at scan 1 was 4±2 days in 50/57 (88%) neonates and 48/54 (89%) surviving infants underwent scan 2 at 10±2 days. In 54/57 (95%) survivors, higher MRI injury grades were significantly associated with worse outcomes in the cognitive, motor and language domains of the Bayley-III.Conclusion: A qualitative MRI injury scoring system weighted for deep nuclear gray matter injury is a significant predictor of neurodevelopmental outcome at 18-24 months in neonates with HIE. [ABSTRACT FROM AUTHOR]

The hypothesis of enhanced vulnerability following perinatal asphyxia was investigated with a protocol combining in vivo and in vitro experiments. Asphyxia-exposed (AS) (by 21 min water immersion of foetuses containing uterine horns) and caesarean-delivered control (CS) rat neonates were used at P2-3 for preparing triple organotypic cultures (substantia nigra, neostriatum and neocortex). At DIV 18, cultures were exposed to different concentrations of HO (0.25-45 mM), added to the culture medium for 18 h. After a 48-h recovery period, the cultures were either assessed for cell viability or for neurochemical phenotype by confocal microscopy. Energy metabolism (ADP/ATP ratio), oxidative stress (GSH/GSSG) and a modified ferric reducing/antioxidant power assay were applied to homogenates of parallel culture series. In CS cultures, the number of dying cells was similar in substantia nigra, neostriatum and neocortex, but it was several times increased in AS cultures evaluated under the same conditions. A HO challenge led to a concentration-dependent increase in cell death (>fourfold after 0.25 mM of HO) in CS cultures. In AS cultures, a significant increase in cell death was only observed after 0.5 mM of HO. At higher than 1 mM of HO (up to 45 mM), cell death increased several times in all cultures, but the effect was still more prominent in CS than in AS cultures. The cell phenotype of dying/alive cells was investigated in formalin-fixed cultures exposed to 0 or 1 mM of HO, co-labelling for TUNEL (apoptosis), MAP-2 (neuronal phenotype), GFAP (astroglial phenotype) and TH (tyrosine hydroxylase; for dopamine phenotype), counterstaining for DAPI (nuclear staining), also evaluating the effect of a single dose of nicotinamide (0.8 nmol/kg, i.p. injected in 100 μL, 60 min after delivery). Perinatal asphyxia produced a significant increase in the number of DAPI/TUNEL cells/mm, in substantia nigra and neostriatum. One millimolar of H0 increased the number of DAPI/TUNEL cells/mm by ≈twofold in all regions of CS and AS cultures, an effect that was prevented by neonatal nicotinamide treatment. In substantia nigra, the number of MAP-2/TH-positive cells/mm was decreased in AS compared to CS cultures, also by 1 mM of H0, both in CS and AS cultures, prevented by nicotinamide. In agreement, the number of MAP-2/TUNEL-positive cells/mm was increased by 1 mM HO, both in CS (twofold) and AS (threefold) cultures, prevented by nicotinamide. The number of MAP-2/TH/TUNEL-positive cells/mm was only increased in CS (>threefold), but not in AS (1.3-fold) cultures. No TH labelling was observed in neostriatum, but 1 mM of HO produced a strong increase in the number of MAP-2/TUNEL-positive cells/mm, both in CS (>2.9-fold) and AS (>fourfold), decreased by nicotinamide. In neocortex, HO increased the number of MAP-2/TUNEL-positive cells/mm, both in CS and AS cultures (≈threefold), decreased by nicotinamide. The ADP/ATP ratio was increased in AS culture homogenates (>sixfold), compared to CS homogenates, increased by 1 mM of H0, both in CS and AS homogenates. The GSH/GSSG ratio was significantly decreased in AS, compared to CS cultures. One millimolar of HO decreased that ratio in CS and AS homogenates. The present results demonstrate that perinatal asphyxia induces long-term changes in metabolic pathways related to energy and oxidative stress, priming cell vulnerability with both neuronal and glial phenotype. The observed effects were region dependent, being the substantia nigra particularly prone to cell death. Nicotinamide administration in vivo prevented the deleterious effects observed after perinatal asphyxia in vitro, a suitable pharmacological strategy against the deleterious consequences of perinatal asphyxia. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the effectiveness of critical congenital heart disease (CCHD) screening program for early diagnosis of cardiac anomalies in newborn infants. Methods: This is a hospital-based prospective cross-sectional study conducted in the Pediatric and Neonatology Department, King Fahad Hospital at Albaha, Saudi Arabia, between February 2016 and February 2017. Results: We screened 2961 (95.4%) of 3103 patients in a nursery unit; 142 (4.6%) patients were not screened. The test was positive in 114 (3.9%) patients and negative in 2847 (96.1%). There were 94 (3.2%) false positives and 20 (0.7%) true positives. Critical cardiac defects were diagnosed in 7 (0.2%) patients of all screened infants, and severe pulmonary hypertension was diagnosed in 13 (0.4%) patients. True negative results were found in 2841(96%) patients, and no cardiac defect was diagnosed, whereas false negative results were seen in 6 (0.2%) patients diagnosed with ventricular septal defect. The sensitivity was 77%, and the specificity was very high at 97%, with a positive predictive value of 18%, and a negative predictive value of 99.8% (95% confidence interval 13.78-19.18, p=0.0001). Conclusion: Pulse oximetry was found to be easy, safe, sensitive, and highly specific for diagnosis of CCHD. [ABSTRACT FROM AUTHOR]

Background: Measuring thyrotropin (TSH) eluted from a dried blood spot (DBS) is used to screen an estimated 30 million newborns annually for congenital hypothyroidism (CH). Newborn thyroid screening has eliminated cretinism from the industrialized world and decreased the adverse effects of unrecognized CH on neurocognitive development. Hematocrit, a pre-analytic variable that affects the measurement of TSH from a DBS, contributes to the imprecision of DBS TSH measurement and could account for false-negative and falsepositive DBS newborn screening test results. To assess whether variations in hematocrit found in newborns have a clinical effect in DBS-based newborn thyroid screening, the effects of hematocrit variability on the measurement of DBS TSH were studied. Methods: U.S. Centers for Disease Control and Prevention procedures for manufacturing DBS performance testing standards were used to generate DBSs from blood samples, with hematocrits of 35%, 40%, 45%, 50%, 55%, 60%, and 65% and serum TSH concentrations of 6.3 ± 0.4 and 26.6 ± 8.0 mIU/L. TSH was measured in the eluates of four replicate DBS 3mm punches at each hematocrit using the Thailand Ministry of Public Health Newborn Screening Operation Center enzyme-linked immunosorbent assay. Data were analyzed using a linear mixed-effects model. Results: Based on the mixed-effects model, hematocrit significantly affected DBS TSH measurement (p < 0.001). A 1% increase in hematocrit resulted in a 0.06 mIU/L decrease in eluate TSH when TSH was 6.3 + 0.4 mIU/L, and a 0.21 mIU/L decrease in eluate TSH when TSH was 26.6 + 8.0 mIU/L. Conclusions: DBS TSH is significantly affected by the blood sample hematocrit. The pre-analytic variability due to hematocrit is independent of TSH assay sensitivity, specificity, precision, repeatability, and reference intervals. The effect of hematocrit on DBS TSH measurement is clinically relevant, could account for geographic and ethnic variation in the incidence of CH, and may result in both false-positive and false-negative CH screening results. Individual newborn and population-specific hematocrit correction factors may improve the precision of DBS TSH measurement. [ABSTRACT FROM AUTHOR]

Horses are a precocious species that must accomplish several milestones that are critical to survival in the immediate post-birth period for their survival. One essential milestone is the successful transition from the intrauterine unconsciousness to an extrauterine state of consciousness or awareness. This transition involves a complex withdrawal of consciousness inhibitors and an increase in neuroactivating factors that support awareness. This process involves neuroactive hormones as well as inputs related to factors such as cold, visual, olfactory, and auditory stimuli. One factor not previously considered in this birth transition is a yet unreported direct neural reflex response to labor-induced physical compression of the fetus in the birth canal (squeezing). Neonatal maladjustment syndrome (NMS) is a disorder of the newborn foal characterized by altered behavior, low affinity for the mare, poor awareness of the environment, failure to bond to the mother, abnormal sucking, and other neurologically-based abnormalities. This syndrome has been associated with altered events during birth, and was believed to be caused exclusively by hypoxia and ischemia. However, recent findings revealed an association of the NMS syndrome with the persistence of high concentrations of in utero neuromodulating hormones (neurosteroids) in the postnatal period. Anecdotal evidence demonstrated that a novel physical compression (squeeze) method that applies 20 min of sustained pressure to the thorax of some neonatal foals with this syndrome might rapidly hasten recovery. This survey provides information about outcomes and time frames to recovery comparing neonatal foals that were given this squeeze treatment to foals treated with routine medical therapy alone. Results revealed that the squeeze procedure, when applied for 20 min, resulted in a faster full recovery of some foals diagnosed with NMS. The adjunctive use of a non-invasive squeeze method may improve animal welfare by hastening recovery and foal-mare interactions that minimize health problems. This would also avoid or reduce costs arising from hospitalization associated with veterinary and nursing care that sometimes leads owners to elect for euthanasia. [ABSTRACT FROM AUTHOR]

Transient abnormal myelopoiesis (TAM) also known as transient myeloproliferative disorder (TMD), a unique transient neonatal preleukaemic disorder characterized by clonal proliferation of megakaryoblasts, has been usually described to be associated with Down syndrome neonates. However, there are case reports of it occurring in neonates without Down phenotype, who are either mosaic for trisomy 21 or have trisomy 21 restricted to leukemic clone. This case report presents a case of TAM in a phenotypically normal neonate who presented in respiratory distress with features of tumour lysis syndrome (TLS) immediately after birth who was treated symptomatically and had spontaneous remission within three months. [ABSTRACT FROM AUTHOR]