Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Co-bedding as a Comfort measure For Twins undergoing painful procedures (CComForT Trial)
Background Co-bedding, a developmental care strategy, is the practice of caring for diaper clad twins in one incubator (versus separating and caring for each infant in separate incubators), thus creating the opportunity for skin-to-skin contact and touch
Feeley Nancy L +5 more
doaj +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
The Development of Digital Twin Baby Incubators for Fault Detection and Performance Analysis
This study focuses on developing a digital twin for baby incubators in neonatal intensive care units to enhance monitoring and care for premature infants. The digital twin employs a hybrid model integrating Long Short-Term Memory (LSTM) and Random Forest
Hatice Kabaoğlu +2 more
doaj +1 more source
Designing artificial environments for preterm infants based on circadian studies on pregnant uterus
Using uterine explants from Per1::Luc rats and in situ hybridization, we recently reported that the circadian property of the molecular clock in the uterus and placenta is stably maintained from non-pregnancy, right through to the end stage of pregnancy
Shimpei eWatanabe +7 more
doaj +1 more source
β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio +11 more
wiley +1 more source
Impulsive noise poses a significant challenge to broadband feedforward active noise control (ANC) systems, particularly in sensitive environments such as infant incubators.
Lichuan Liu, Lilin Du, Xianwen Wu
doaj +1 more source
Electrostatically‐Stabilized PEG‐Free Lipid Nanoparticles for Systemic Nucleic Acid Delivery
This work describes non‐PEGylated layered lipid nanoparticles (nonPEG LLNPs), a gene delivery platform that improves upon standard PEGylated LNPs via electrostatic adsorption of charged polymers. nonPEG LLNPs maintain colloidal stability under biological stresses, enhance circulation time, and mitigate accelerated blood clearance and hepatic ...
Namita Nabar +4 more
wiley +1 more source
From Lab to Landscape: Environmental Biohybrid Robotics for Ecological Futures
This Perspective explores environmental biohybrid robotics, integrating living tissues, microorganisms, and insects for operation in real‐world ecosystems. It traces the leap from laboratory experiments to forests, wetlands, and urban environments and discusses key challenges, development pathways, and opportunities for ecological monitoring and ...
Miriam Filippi
wiley +1 more source
Thermal equilibrium as a predictor of growth efficiency in preterm infants
IntroductionProviding adequate nutrition to preterm infants to achieve postnatal growth similar to intrauterine growth remains challenging due to the unpredictability of individual determinants.Material and methodsWe used a calculation program for infant
Julia Heiter +4 more
doaj +1 more source

