Search Results (13)

Background: Nepal’s diverse geography creates significant challenges for healthcare accessibility, particularly for neonatal care. Rural areas, especially in the mountainous regions, face severe healthcare gaps due to isolation, inadequate infrastructure, and a shortage of skilled staff. Strengthening healthcare in these underserved regions is essential to reducing neonatal mortality. Helping Babies Breathe (HBB) is a neonatal resuscitation training program designed to reduce neonatal mortality due to birth asphyxia in low-resource settings. Methods: A comprehensive literature search identified studies on neonatal mortality and interventions, particularly HBB, which were analyzed using a narrative synthesis approach. This review examines disparities in neonatal health outcomes, regional differences, and barriers to healthcare access. Findings: This review identifies key themes related to healthcare disparities, neonatal mortality, and birth outcomes in Nepal’s remote regions. Geographical isolation, inadequate healthcare infrastructure, and cultural barriers contribute to persistently high neonatal mortality, particularly in mountainous areas such as Jumla and Dolpa, where rates exceed 60 per 1000 live births. HBB has shown a significant impact, reducing neonatal mortality by up to 60% when effectively implemented. However, infrastructural gaps, lack of emergency transport, and the uneven distribution of skilled birth attendants (SBAs) remain critical challenges. Addressing these disparities requires expanded training, increased availability of neonatal resuscitation equipment, and culturally sensitive healthcare strategies. Full article

Background/Objectives: DNA extraction from dried blood spot (DBS) samples is often applied in neonatal screening programs. Although various methods to extract DNA from DBSs have been described, the optimal approach remains unclear. Therefore, this study aimed to compare and optimize extraction methods to establish a reliable and efficient protocol for human DNA extraction from DBSs. Methods: We conducted a back-to-back comparison of five different DNA extraction methods on 20 DBS samples: three column-based kits (QIAamp DNA mini kit, High Pure PCR Template Preparation kit, DNeasy Blood & Tissue kit) and two in-house boiling methods (one using TE buffer, one using Chelex-100 resin). DNA recovery was measured with DeNovix DS-11 and ACTB qPCR. Further optimization of elution volumes and starting material was performed on the best-performing methods (sample size = 5). Additionally, T-cell receptor excision circle (TREC) DNA was assessed by qPCR as an application. Results: The Chelex boiling method yielded significantly (p < 0.0001) higher ACTB DNA concentrations compared to the other methods. Column-based methods showed low DNA recovery, except for Roche, which showed significantly (p < 0.0001) higher DNA concentrations than the other column-based methods, as measured by DeNovix DS-11. Decreasing elution volumes (150 vs. 100 vs. 50 µL) increased ACTB DNA concentrations significantly, while increasing starting material (two vs. one 6 mm spot) did not. Conclusions: We identified an easy and cost-effective optimized DNA extraction method using Chelex from DBSs, with an elution volume of 50 µL and 1 × 6 mm DBS punch, which is particularly advantageous for research in low-resource settings and large populations, such as neonatal screening programs. Full article

Background/Objectives: Premature neonates are at risk for retinopathy of prematurity (ROP) and routinely undergo screening exams that involve substantial physical manipulation, often causing significant signs of pain, despite pain-relieving interventions. It remains unclear whether these exams affect energy utilization, cellular hypoxia, and clinically significant events, and whether receiving supplemental oxygen affects these relationships. This work examines the effects of ROP screening on (1) urinary uric acid-to-creatinine concentration ratios ([UA]/[Cr]), a known marker of ATP degradation, hypoxia, and oxidative stress; and (2) clinically significant events (apnea, bradycardia, gastric residuals, and oxygen desaturations) in premature neonates on room air or oxygen support. Methods: This prospective pilot study included premature neonates requiring ROP screening examinations at Loma Linda University’s NICU. Urinary [UA]/[Cr], measured by high-performance liquid chromatography, and clinical events, documented by prospective medical chart review, were analyzed pre- and post-exam in subjects on room air (n = 18) or on oxygen support (n = 20). Statistical analyses included a generalized linear mixed model for urinary [UA]/[Cr] and Wilcoxon signed rank tests for clinical events. Results: A significant time effect (p = 0.010) was observed for urinary [UA]/[Cr], with higher levels at 0–12 (p = 0.023) and 12–24 (p = 0.023) hours post-exam. Subjects receiving oxygen support had more total (p = 0.028) and more severe (p = 0.026) oxygen desaturations. Conclusions: ROP examinations may increase energy utilization in premature neonates, with those receiving oxygen support being particularly susceptible to oxygen desaturations post-exam. Further research is needed to clarify the full impact of the procedure and to identify strategies to minimize stress associated with these screening examinations. Full article

Background/Objectives: Critical congenital heart disease (CCHD) is among the major causes of global neonatal morbidity and mortality. While the incidence of CCHD appears to vary across populations, much of this variation may stem from differences in detection and reporting capabilities rather than true prevalence. In Jordan, recent data revealed a congenital cardiac disease incidence of 17.8/1000 live births, much higher than international averages. Diagnosis is largely dependent upon echocardiography, which is difficult to obtain in low-resource settings where prenatal screening modalities are limited. Screening for CCHD with pulse oximetry offers a potential method to identify patients earlier and contribute to improved outcomes. Methods: This prospective cohort study evaluated 20,482 neonates screened using pulse oximetry at Al-Bashir Hospital between January 2022 and May 2024. Demographic data, pulse oximetry measurements, and echocardiogram findings were collected during the screening process after obtaining ethical approval from the Jordanian Ministry of Health. Results: Pulse oximetry screening identified 752 neonates (3.7%) requiring further evaluation by echocardiography. An abnormality was detected in 240 neonates (31.9%), which included cardiac anomalies and pulmonary hypertension. Screening led to the identification of 138 infants with CCHD, including 80 with a previously unknown diagnosis, and an additional 247 infants with conditions requiring increased monitoring or treatment. Among those with CCHD, hypoplastic left heart syndrome and Tetralogy of Fallot were the most common conditions, 3.1%, and 2.4%, respectively. The overall false positive rate was 1.8% and was higher among those screened at less than 24 h of life compared to those screened at or after 24 h of life (2.3% [95%CI 2.1–2.6] vs. 0.8% [95%CI 0.6–1.0], p < 0.001). Conclusions: Pulse oximetry screening successfully led to the early detection of CCHD among Jordanian neonates. There was a high prevalence of CCHD compared to other reported cohorts. This highlights the importance of implementing national screening protocols to improve early diagnosis and intervention. Future studies will inform the feasibility and cost-effectiveness of national implementation in this setting. Full article

Background: One of the main objectives of Phenylketonuria (PKU) management is represented by optimising the growth trend under restricted protein diet regimen. The data on long-term growth in PKU children are limited and mostly based on earlier studies. Methods: The data for this twelve-year longitudinal study were collected from 34 PKU children and 37 healthy peers, whose auxological parameters were taken at 7 time-points over the follow-up. The weight-for-length ratio (WLR) z-score and body mass index (BMI) z-score were considered according to age. Prevalence of overweight/obesity was evaluated at last assessment. Results: The median BMI z-score of PKU children was normal and not statistically different from that of controls on all the seven time-point assessments. Their distributions tended to be wider than those of peers, with the upper limit exceeding the normal range since 12 months old, with a peak specifically at 3 years of age. In controls, there was a tendency to approach the BMI z-score values of overweight in later childhood. The prevalence of overweight was comparable (29% vs. 25%, p: 0.78) between the two groups at last assessment, and obese subjects (3/37) were only detected in the control group. Conclusions: In this study, we report data from a long-term follow-up on growth, highlighting that the median BMI z-score of PKU children was normal and not statistically different from that of controls. Also, the prevalence of obesity at 12 years of age was overlapping. However, the high prevalence of overweight children in the general population may explain the lack of difference and does not reassure about patients’ nutritional risk. Full article

Gastroschisis is a congenital anomaly characterized by herniation of abdominal contents via a defect in the anterior abdominal wall. Gastroschisis can manifest as simple or complex, with additional complications such as atresia, perforation, ischemia, necrosis, or volvulus. While prenatal screening and advancements in surgical techniques have improved outcomes, infants with complex gastroschisis cases pose significant challenges in neonatal care. Vanishing gastroschisis, a rare but dreaded complication with a mortality rate ranging from 10 to 70%, occurs when the abdominal wall closes around the herniated bowel, leading to strangulation. We present a case report focusing on the management of neonatal gastroschisis in a 36-week-old female infant with vanishing gastroschisis. The infant’s clinical course, including surgical interventions, complications, and multidisciplinary management, is discussed in detail. This case underscores the importance of a multidisciplinary approach in optimizing outcomes for infants with complex gastroschisis. Via this case report, we aim to provide insights into the complexities of neonatal gastroschisis management and advocate for a collaborative approach involving neonatology, pediatric surgery, infectious disease, and palliative care to improve outcomes and quality of life for affected infants. Full article

Zinc (Zn) is a vital trace element that plays a pivotal role in protein synthesis, cellular growth, and differentiation and is involved as a cofactor of metalloenzymes, performing a wide variety of metabolic, immune, and synthesis roles. Zn is required at all stages of an infant’s and child’s development, and severe Zn deficiency has been reported to lead to slower physical, cognitive, and sexual growth. Preterm neonates are at a higher risk of developing zinc deficiency for a variety of reasons, including low Zn intake from enteral feeds containing breast milk, relative malabsorption due to immaturity of the gastrointestinal tract with limited absorptive capacity, increased urinary loss of zinc, and increased demand during the early developmental stages. Moreover, premature infants are at risk of gastrointestinal diseases like necrotizing enterocolitis (NEC), which can limit absorption capacity and potentially lead to malabsorption. TPN is frequently used in preterm infants to provide them with sufficient nutrients and calories. However, it has its own complications, including cholestasis, especially if used for prolonged periods. In this case report, we are presenting the case of a male preterm infant who was delivered by caesarean section at 26 weeks’ gestation. The baby developed an intestinal perforation due to NEC, for which he underwent surgery for resection of the necrotic bowel and the creation of a high ileal stoma and was put on prolonged total parenteral nutrition (TPN), which led to the development of zinc deficiency. Full article

Assisted reproductive technology (ART) is an emerging field in medicine that incorporates complex procedures and has profound ethical, moral, social, religious, and economic implications not just for the individuals who have access to this method but also for society. In this narrative review, we summarise multiple aspects of ART procedures and the possible consequences on the mother and newborn. Moreover, we provide an overview of the possible long-term consequences of ART procedures on the health of newborns, although longitudinal evidence is particularly scant. Users should be informed that ART procedures are not risk-free to prepare them for the possible negative outcomes that may occur in the perinatal period or even in childhood and adulthood. Indeed, risk estimates point to increased liability for major nonchromosomal birth defects; cardiovascular, musculoskeletal, and urogenital (in male newborns) defects; and any other birth defects. Less certainty is present for the risk of neuropsychiatric sequelae in children conceived through ART. Thus, its application should be accompanied by adequate counselling and psychological support, possibly integrated into specific multidisciplinary clinical programmes. Full article

Thyroid hormones are known to influence the production and secretion of pulmonary surfactant. The objective of this study was to explore the relationship between respiratory distress syndrome (RDS) and thyroid hormones. This was a retrospective study of preterm infants at 24–33 weeks gestational age from April 2017 to February 2019. T₃, free T₄ (fT₄), and thyroid-stimulating hormone (TSH) were measured 1, 3, and 6 weeks after birth. Multivariate logistic regression analyses were performed to determine the relationship between RDS and TSH. A total of 146 infants were enrolled. Of these, 60 had RDS, 72 had no RDS, and 14 were excluded. T₃ and TSH were lower in the RDS groups (p < 0.05) on the day of birth. Multivariate logistic regression analysis indicated that lower serum TSH levels immediately after birth were associated with a higher incidence of RDS (OR, 0.89; 95% CI, 0.81–0.97). The TSH level was associated with the incidence of RDS. This suggests that suppression of the hypothalamus–pituitary axis function contributes to RDS, which is the result of surfactant deficiency. Full article

During Integrated Multiparametric Neurophysiological Monitoring (IMNA), a newborn with suspected hypoxia at birth and microhaemorrhagic and ischaemic lesions presented some clonic-tonic episodes with specific EEG patterns characterized by rolandic and temporal spikes and the appearance of a unilateral enhanced Somatosensory Evoked Potential (SEP) (10.45 µv). Since the literature does not seem to describe cases of giant SEP in newborns, in this case report, we will discuss the hypotheses underlying this potential. It could be assumed that the ischaemic and haemorrhagic lesions presented by the newborn may have developed as a result of neurotransmitter balance failure. This may be the origin of the EEG picture, which, consequently, could have triggered a potential with high amplitude. Full article

Neonatal abstinence syndrome (NAS) due to maternal opioid use affects both term and preterm infants; however, the relationship between gestational age and clinical symptomatology is still poorly understood. In this study, we compared the clinical features and outcomes of NAS in infants admitted to a neonatal intensive care unit (NICU) based on gestational age groups: preterm (32–36 6/7 weeks) and term (37 weeks or older). A retrospective data analysis was conducted using the medical records of infants with a diagnosis of NAS admitted to a regional perinatal center between 2014 and 2020. A modified Finnegan scoring system was used based on three different symptom categories, including Central Nervous System (CNS), Gastrointestinal (GI) and Other. In total, 166 infants with a diagnosis of NAS were included, with 52 (31%) who were preterm and 114 (69%) who were term. The highest NAS score was significantly lower for the preterm group than for the term group. Preterm infants were less likely to require first-line pharmacotherapy with morphine (52% versus 75%) and to experience GI symptoms during their hospitalization. Newer NAS assessment modalities, such as eat, sleep, console (ESC), may overcome the existing challenges of traditional scoring systems, but will require validation in preterm infants. Full article

Background: Nonsyndromic cleft lip with or without palate (NSCL/P) is a multifactorial and common birth malformation caused by genetic and environmental factors, as well as by teratogens. Genome-wide association studies found genetic variations with modulatory effects of NSCL/P formation in Chinese and Iranian populations. We aimed to identify the susceptibility of single-nucleotide polymorphisms (SNPs) to nonsyndromic cleft lip with or without palate in the Indian population. Material and Methods: The present study was conducted on NSCL/P cases and controls. Genomic DNA was extracted from peripheral blood and Axiom- Precision Medicine Research Array (PMRA) was performed. The Axiom-PMRA covers 902,527 markers and several thousand novel risk variants. Quality control-passed samples were included for candidate genetic variation identification, gene functional enrichment, and pathway and network analysis. Results: The genome-wide association study identified fourteen novel candidate gene SNPs that showed the most significant association with the risk of NSCL/P, and eight were predicted to have regulatory sequences. Conclusion: The GWAS study showed novel candidate genetic variations in NSCL/P formations. These findings contribute to the understanding of genetic predisposition to nonsyndromic cleft lip with or without palate. Full article

Data in the literature report that latency and morphology in the cutaneous sympathetic skin response (SSR) do not change according to the type of stimulus delivered, unlike the amplitude which shows greater values in relation to the intensity of the physical impact caused in patient. Since the acoustic stimulus represents a method better tolerated by the pediatric patient, the aim of this study is to evaluate the presence or absence of significant differences in SSR between electrical and acoustic stimuli. The SSR was performed for each child of 18 recruited in this study, deriving from the palm of the hand and the sole of the foot and initially delivering an electrical stimulus at the level of the median nerve at the wrist. Two acoustic stimuli were subsequently delivered with the aid of audiometric headphones. Our results show no significant differences for the amplitude values obtained (p values > 0.05). For the latency there was a statistically significant difference (p-value = 0.001) for the left hand, subsequently not confirmed by the comparison performed between the two sides (p-values = 0.28 and 0.56). If these preliminary data are confirmed by a larger sample, the acoustic stimulus could be introduced in a standardized protocol for performing SSR in pediatric patients. Full article