Publications by authors named "Patricia E Grant"

In drug-resistant epilepsy, a visual inspection of intracranial electroencephalography (iEEG) signals is often needed to localize the epileptogenic zone (EZ) and guide neurosurgery. The visual assessment of iEEG time-frequency (TF) images is an alternative to signal inspection, but subtle variations may escape the human eye. Here, we propose a deep learning-based metric of visual complexity to interpret TF images extracted from iEEG data and aim to assess its ability to identify the EZ in the brain.

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Brain magnetic resonance imaging (MRI) offers a unique lens to study neuroanatomic support of human neurocognition. A core mystery is the MRI explanation of individual differences in neurocognition and its manifestation in intelligence. The past four decades have seen great advancement in studying this century-long mystery, but the sample size and population-level studies limit the explanation at the individual level.

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  • The COMET trial aims to determine if whole-body hypothermia can improve cognitive development in neonates with mild hypoxic ischemic encephalopathy, a condition linked to learning difficulties.
  • It is a phase III multicenter randomized controlled trial involving 426 neonates, comparing hypothermia treatment (33.5°C) to normothermia (37.0°C) within the first six hours of birth.
  • The primary goal is to evaluate cognitive outcomes at two years using the Bayley scales, while also ensuring the trial's safety and assessing healthcare resource utilization.
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Cleft lip/palate is a common orofacial malformation that often leads to speech/language difficulties as well as developmental delays in affected children, despite surgical repair. Our understanding of brain development in these children is limited. This study aimed to analyze prenatal brain development in fetuses with cleft lip/palate and controls.

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Purpose: This study evaluates the imaging performance of two-channel RF-shimming for fetal MRI at 3 T using four different local specific absorption rate (SAR) management strategies.

Methods: Due to the ambiguity of safe local SAR levels for fetal MRI, local SAR limits for RF shimming were determined based on either each individual's own SAR levels in standard imaging mode (CP mode) or the maximum SAR level observed across seven pregnant body models in CP mode. Local SAR was constrained either indirectly by further constraining the whole-body SAR (wbSAR) or directly by using subject-specific local SAR models.

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  • Normal cortical growth and folding are essential for proper brain function and can be influenced by both genetic and environmental factors during fetal development.
  • This study investigates how placental oxygen transport, especially during maternal hyperoxia, impacts early brain development in identical twins, helping to control for genetic and maternal variables.
  • It was found that fetuses experiencing lower placental oxygen delivery exhibited less growth in the cerebral cortex and more variance in sulcal folding patterns, indicating a strong link between oxygen transport and brain development.
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Purpose: Volumetric, high-resolution, quantitative mapping of brain-tissue relaxation properties is hindered by long acquisition times and SNR challenges. This study combines time-efficient wave-controlled aliasing in parallel imaging (wave-CAIPI) readouts with the 3D quantification using an interleaved Look-Locker acquisition sequence with a T preparation pulse (3D-QALAS), enabling full-brain quantitative T , T , and proton density (PD) maps at 1.15-mm isotropic voxels in 3 min.

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Non-syndromic, isolated musculoskeletal birth defects (niMSBDs) are among the leading causes of pediatric hospitalization. However, little is known about brain development in niMSBDs. Our study aimed to characterize prenatal brain development in fetuses with niMSBDs and identify altered brain regions compared to controls.

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Background: Neonatal seizures are common, but the impact of neonatal seizures on long-term neurologic outcome remains unclear. We addressed this question by analyzing data from an early-phase controlled trial of bumetanide to treat neonatal seizures.

Methods: Neonatal seizure burden was calculated from continuous video-EEG data.

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Background: Therapeutic hypothermia (TH) is standard of care for moderate to severe neonatal hypoxic ischemic encephalopathy (HIE) but many survivors still suffer lifelong disabilities and benefits of TH for mild HIE are under active debate. Development of objective diagnostics, with sensitivity to mild HIE, are needed to select, guide, and assess response to treatment. The objective of this study was to determine if cerebral oxygen metabolism (CMRO) in the days after TH is associated with 18-month neurodevelopmental outcomes as the first step in evaluating CMRO's potential as a diagnostic for HIE.

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Article Synopsis
  • * The SVRIII Brain Connectome study aims to analyze neuroimaging from patients and healthy controls but has faced recruitment and logistical challenges, especially during the COVID-19 pandemic.
  • * Solutions included adding more study sites, improving coordination among researchers, and implementing new strategies for recruiting healthy controls while also overcoming technical issues with neuroimage collection.
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Introduction: The Chiari II is a relatively common birth defect that is associated with open spinal abnormalities and is characterized by caudal migration of the posterior fossa contents through the foramen magnum. The pathophysiology of Chiari II is not entirely known, and the neurobiological substrate beyond posterior fossa findings remains unexplored. We aimed to identify brain regions altered in Chiari II fetuses between 17 and 26 GW.

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Unlabelled: Patients with hypoplastic left heart syndrome who have been palliated with the Fontan procedure are at risk for adverse neurodevelopmental outcomes, lower quality of life, and reduced employability. We describe the methods (including quality assurance and quality control protocols) and challenges of a multi-center observational ancillary study, SVRIII (Single Ventricle Reconstruction Trial) Brain Connectome. Our original goal was to obtain advanced neuroimaging (Diffusion Tensor Imaging and Resting-BOLD) in 140 SVR III participants and 100 healthy controls for brain connectome analyses.

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Magnetic resonance imaging (MRI) and continuous electroencephalogram (EEG) monitoring are essential in the clinical management of neonatal seizures. EEG electrodes, however, can significantly degrade the image quality of both MRI and CT due to substantial metallic artifacts and distortions. Thus, we developed a novel thin film trace EEG net ("NeoNet") for improved MRI and CT image quality without compromising the EEG signal quality.

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Eukaryotic initiation factor-4A2 (EIF4A2) is an ATP-dependent RNA helicase and a member of the DEAD-box protein family that recognizes the 5' cap structure of mRNAs, allows mRNA to bind to the ribosome, and plays an important role in microRNA-regulated gene repression. Here, we report on 15 individuals from 14 families presenting with global developmental delay, intellectual disability, hypotonia, epilepsy, and structural brain anomalies, all of whom have extremely rare de novo mono-allelic or inherited bi-allelic variants in EIF4A2. Neurodegeneration was predominantly reported in individuals with bi-allelic variants.

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  • Breastmilk contains essential nutrients that support infant brain development, and maternal nutrition may enhance these benefits.
  • A study of 33 newborns examined how the amount of breastfeeding at 3 months and the nutrient content in breastmilk relate to motor skills and problem-solving abilities by age 3-5.
  • Results showed that higher breastfeeding rates are linked to better motor and problem-solving skills, with specific nutrients like α-tocopherol and lutein showing significant positive correlations, suggesting the need for more research on their neurodevelopmental effects.
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Accelerated maturation of brain parenchyma close to term-equivalent age leads to rapid changes in diffusion-weighted imaging (DWI) and diffusion tensor imaging (DTI) metrics of neonatal brains, which can complicate the evaluation and interpretation of these scans. In this study, we characterized the topography of age-related evolution of diffusion metrics in neonatal brains. We included 565 neonates who had MRI between 0 and 3 months of age, with no structural or signal abnormality-including 162 who had DTI scans.

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Delineation of resected brain cavities on magnetic resonance images (MRIs) of epilepsy surgery patients is essential for neuroimaging/neurophysiology studies investigating biomarkers of the epileptogenic zone. The gold standard to delineate the resection on MRI remains manual slice-by-slice tracing by experts. Here, we proposed and validated a semiautomated MRI segmentation pipeline, generating an accurate model of the resection and its anatomical labeling, and developed a graphical user interface (GUI) for user-friendly usage.

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Mild isolated fetal ventriculomegaly (iFVM) is the most common abnormality of the fetal central nervous system. It is characterized by enlargement of one or both of the lateral ventricles (defined as ventricular width greater than 10 mm, but less than 12 mm). Despite its high prevalence, the pathophysiology of iFVM during fetal brain development and the neurobiological substrate beyond ventricular enlargement remain unexplored.

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Article Synopsis
  • Infant hydrocephalus, primarily affecting the developing world, is difficult to treat due to limited access to neurosurgery, but the ETV/CPC procedure has proven effective and resource-efficient compared to traditional VPS placement.
  • The study will enroll 300 infants at CURE Children's Hospital of Uganda and assess their cerebral physiology and brain growth before and after surgery, focusing on factors like oxygen levels and blood flow.
  • This research aims to create evidence-based treatment guidelines by monitoring brain development and neurodevelopmental outcomes over two years, along with outlining the trial's protocol and data management strategies.
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Pregnancy and lactation can change the maternal nutrient reserve. Non-invasive, quantitative markers of maternal nutrient intake could enable personalized dietary recommendations that improve health outcomes in mothers and infants. Macular pigment optical density (MPOD) is a candidate marker, as MPOD values generally reflect carotenoid intake.

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The accurate prediction of fetal brain age using magnetic resonance imaging (MRI) may contribute to the identification of brain abnormalities and the risk of adverse developmental outcomes. This study aimed to propose a method for predicting fetal brain age using MRIs from 220 healthy fetuses between 15.9 and 38.

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The genetic causes of global developmental delay (GDD) and intellectual disability (ID) are diverse and include variants in numerous ion channels and transporters. Loss-of-function variants in all five endosomal/lysosomal members of the CLC family of Cl channels and Cl/H exchangers lead to pathology in mice, humans, or both. We have identified nine variants in CLCN3, the gene encoding CIC-3, in 11 individuals with GDD/ID and neurodevelopmental disorders of varying severity.

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