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This document contains abstracts from the Journal of Neonatal - Perinatal Medicine, covering a range of topics related to neonatal encephalopathy (NE) and its associated complications. The studies explore the efficacy of AI-based seizure-detection algorithms, the feasibility of EEG recordings in emergency transport, the validation of neonatal encephalopathy scores using neurophysiology measures, and the use of an automated seizure detection algorithm for neonatal EEG. Additionally, the document discusses the development and achievements of the HRB Neonatal Encephalopathy PhD Training Network (HRB NEPTuNE) research program, which aims to improve understanding, diagnosis, and management of NE. The text also includes studies on somatosensory evoked potentials (SEPs), red reflex assessment, catecholamine therapy, and neonatal ventriculitis. [Extracted from the article]

Primary care developmental screening of term and late preterm nicu graduates B Herrera S b SP 1 sp , Herrera S, Cabacungan E, Cohen S I SP 1 sp Medical College Of Wisconsin, Milwaukee, United States i B BACKGROUND: b Infants >= 34 weeks gestation are at relatively low-risk for developmental delay and do not qualify for high-risk infant follow-up based on prematurity alone. 7 patients were discharged on anticonvulsant treatment the treatment was stopped between 3-12 months - the patients were seizure-free after stopping the medication. The reasons eligible patients were not enrolled are as follows: patient arrived outside of study team hours (22/42=52%); parent declined consent (9/42=21%); unavailable parent (6/42=14%); lack of study team notification of patient (4/42=10%); and expiration of study drug (1/33=3%) (Fig 3). EEG was performed on 15/27 patients with PVL at a mean age of 20 months corrected age vs. 17/128 patients without PVL at a mean age of 11.5 months corrected age. [Extracted from the article]

B MATERIALS AND METHODOLOGY: b 21 healthy newborn piglets were divided into 3 cohorts to either receive normal saline vehicles (control group A, n=6), bicuculine 4mg/kg IV (seizure group B, n= 7) to induce seizures or bicuculine 4mg/kg IV followed by phenobarbitone loading dose 20mg/kg after 10 min of continuous electrical seizures (treated seizure group C, n=8) over two time points 3h apart. Electrographic seizures were identified in 296 (33.9%) newborns, in which 26 (10.6%) had status epilepticus, 170 (69.7%) repetitive seizures and 48 (19.7%) single seizure. A comparison of treatment pathways for seizures in newborns across rural and non-rural level... B Dickman J b SP 1 sp , Carrasco McCaul M SP 1 sp I SP 1 sp University Of Wisconsin School Of Medicine And Public Health, Madison, United States i B BACKGROUND: b Seizures are more common during the neonatal period than at any other age, occurring at a rate of 1.10-5.5 per 1,000 live births. Amplitude integrated electroencephalography combined with raw electroencephalography and video imaging (video aEEG/EEG) provides real-time screening for seizure detection. The survey collected information regarding the evaluation of neonatal seizures, anti-seizure medication availability, electroencephalogram (EEG) monitoring methods, and if and how an official treatment pathway for neonatal seizure patients was established at their institution. [Extracted from the article]

Multi-channel electroencephalography (EEG) is commonly used to monitor brain development as it captures changes in the neonatal brain function. Early parenteral nutrients support cerebellar metabolic maturation using 1H-MRS in preterm ne... B Lundberg R b B SP a sp b , Basu S SP a sp , Andescavage N SP a sp , Pradhan S SP a sp , Ottolini K, Kapse K SP a sp , Murnick J SP a sp , Limperopoulos C SP a sp I SP a sp Children's National Medical Center, Washington, United States i B BACKGROUND/PURPOSE: b Nutrition in premature infants influences brain development and neurodevelopmental outcomes. Brain metabolite composition during early human brain development as measured by quantitative in vivo 1 H magnetic resonance spectroscopy: Brain Composition in Early Human Development. Breast milk-associated oxysterol reverses neonatal white matter injury through Gli2-dependent... B Chao A b B SP a sp b , Matak P SP a sp , Pegram K SP a sp , Dubois L SP b sp , Thompson J SP b sp , Jain V SP c sp , Younge N SP a sp , Gregory S SP c sp , Goldberg R SP a sp , Benner E SP a sp I SP a sp Division of Neonatology, Department of Pediatrics, Duke University Medical Center, Durham, United States i I SP b sp Duke Proteomics and Metabolomics Shared Resource, Durham, United States i I SP c sp Duke Molecular Physiology Institute, Durham, United States i B BACKGROUND AND PURPOSE: b White matter injury (WMI) is the most common brain injury leading to poor neurologic outcomes in premature infants. [Extracted from the article]

Association between anterior cerebral artery resistive index on ultrasound, brain injury on M... B Acosta L SP a sp b , Maltais-Bilodeau C SP a sp , Reddy D SP a sp , Mitsakakis N SP a sp , Davila J SP a sp , Lemyre B SP a sp , Ben Fadel N SP a sp , Redpath S SP a sp , Miller E SP a sp I SP a sp CHEO, University of Ottawa, Ottawa, Canada i B BACKGROUND/PURPOSE: b Therapeutic hypothermia (TH) initiated within the first 6 hours after birth, is proven to decrease brain tissue injury in moderate to severe neonatal encephalopathy (NE) and improve 18-24 month neurological outcomes. The aim of this study was to investigate the incidence and characteristics of brain lesions in MLPT infants using cranial ultrasound (cUS) and magnetic resonance imaging (MRI). The sessions evolved to the following format: (1) head US with focus on preterm brain injury; (2) brain MRI with focus on hypoxic-ischemic encephalopathy; (3) brain MRI with focus on other brain injury in the term infant including stroke and congenital malformations); and (4) fellow case presentations including neuroimaging with attending feedback. Association between morphine exposure and brain injury on term-equivalent age brain magnetic... B Almouqdad M SP a sp b , Jamjoom D SP b sp , Khalil T SP a sp , Asfour Y SP c sp , Albeshri B SP a sp , Asfour S SP a sp I SP a sp King Saud medical city, Riyadh, Saudi Arabia SP b sp King Saud University, Riyadh, Saudi Arabia SP c sp Family Care Hospital, Riyadh, Saudi Arabia i B OBJECTIVE: b To investigate the relationship between morphine exposure in the first week of life and brain injury on term-equivalent age magnetic resonance imaging (MRI) in very preterm infants. [Extracted from the article]

The tightly-regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn 2+ transporters: the 14-member ZIP/SLC39 family, facilitating Zn 2+ influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10-member ZnT/SLC30 family, mobilizing Zn 2+ in the opposite direction. Genetic aberrations in most zinc transporters cause human syndromes. Notably, previous studies demonstrated osteopenia and male-specific cardiac death in mice lacking the ZnT5/ SLC30A5 zinc transporter, and suggested association of two homozygous frameshift SLC30A5 variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy. We set out to decipher the molecular basis of a severe hypotonia syndrome. Combining homozygosity mapping and exome sequencing studies of consanguineous Bedouin kindred, as well as transfection experiments and zinc monitoring in HEK293 cells, we demonstrate that a bi-allelic in-frame 3bp deletion variant in SLC30A5 , deleting isoleucine within the highly conserved cation efflux domain of the encoded ZnT5, results in lower cytosolic zinc concentrations, causing a syndrome of severe non-progressive neonatal axial and limb hypotonia with high-arched palate and respiratory failure. There was no evidence of hydrops fetalis, cardiomyopathy or multi-organ involvement. Affected infants required nasogastric tube or gastrostomy feeding, suffered from various degrees of respiratory compromise and failure to thrive and died in infancy. Thus, a biallelic variant in SLC30A5 (ZnT5), affecting cytosolic zinc concentrations, causes a severe hypotonia syndrome with respiratory insufficiency and failure to thrive, lethal by 1 year of age., Competing Interests: Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, and Ohad S. Birk declare that they have no conflict of interest. Guy A. Rutter has received grant funding from, and is a consultant for, Sun Pharmaceuticals Industries Ltd. This company was not involved in any way in the design or execution of the present study., (© 2024 The Author(s). JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.)

Importance: National implementation of rapid trio genome sequencing (rtGS) in a clinical acute setting is essential to ensure advanced and equitable care for ill neonates., Objective: To evaluate the feasibility, diagnostic efficacy, and clinical utility of rtGS in neonatal intensive care units (NICUs) throughout Israel., Design, Setting, and Participants: This prospective, public health care-based, multicenter cohort study was conducted from October 2021 to December 2022 with the Community Genetics Department of the Israeli Ministry of Health and all Israeli medical genetics institutes (n = 18) and NICUs (n = 25). Critically ill neonates suspected of having a genetic etiology were offered rtGS. All sequencing, analysis, and interpretation of data were performed in a central genomics center at Tel-Aviv Sourasky Medical Center. Rapid results were expected within 10 days. A secondary analysis report, issued within 60 days, focused mainly on cases with negative rapid results and actionable secondary findings. Pathogenic, likely pathogenic, and highly suspected variants of unknown significance (VUS) were reported., Main Outcomes and Measures: Diagnostic rate, including highly suspected disease-causing VUS, and turnaround time for rapid results. Clinical utility was assessed via questionnaires circulated to treating neonatologists., Results: A total of 130 neonates across Israel (70 [54%] male; 60 [46%] female) met inclusion criteria and were recruited. Mean (SD) age at enrollment was 12 (13) days. Mean (SD) turnaround time for rapid report was 7 (3) days. Diagnostic efficacy was 50% (65 of 130) for disease-causing variants, 11% (14 of 130) for VUS suspected to be causative, and 1 novel gene candidate (1%). Disease-causing variants included 12 chromosomal and 52 monogenic disorders as well as 1 neonate with uniparental disomy. Overall, the response rate for clinical utility questionnaires was 82% (107 of 130). Among respondents, genomic testing led to a change in medical management for 24 neonates (22%). Results led to immediate precision medicine for 6 of 65 diagnosed infants (9%), an additional 2 (3%) received palliative care, and 2 (3%) were transferred to nursing homes., Conclusions and Relevance: In this national cohort study, rtGS in critically ill neonates was feasible and diagnostically beneficial in a public health care setting. This study is a prerequisite for implementation of rtGS for ill neonates into routine care and may aid in design of similar studies in other public health care systems.