Variation in Neurodegeneration‐Linked Brain Regions in Young Adult APOE E4 Carriers With Spina Bifida
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<jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Objective</jats:title><jats:p>Possible pleiotropic effects of apolipoprotein E4 (APOE E4) in individuals with congenital brain malformations are relatively unknown. Our goal was to determine if neurodegeneration‐linked brain region volumes differ significantly between E4 carriers and noncarriers in young adults with spina bifida (SB).</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Eleven individuals ( > 18 years), genotyped for APOE, underwent neuroimaging and neurocognitive evaluation. Primary analysis: Magnetic resonance imaging (MRI) data from 10 a priori neurodegeneration‐risk regions of interest were compared between E4 carriers and noncarriers, adjusting for age, sex, and total intracranial volume (FDR‐adjusted <jats:italic>p</jats:italic> < 0.05). Secondary analyses: Age‐adjusted neurocognitive standard scores were compared between groups (<jats:italic>p</jats:italic> < 0.05). Post hoc analyses of NeuroQuant‐derived regional brain volumes were examined for combined group differences in young adults with SB.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Comparison of a priori risk region volumes revealed significantly lower left amygdala volumes (FDR‐adjusted <jats:italic>p</jats:italic> = 0.04) in young adult E4 carriers (<jats:italic>n</jats:italic> = 4) relative to noncarriers (<jats:italic>n</jats:italic> = 7). Neurocognitive data were not significantly different between the groups. A possible trend was detected for enlarged parietal volumes in E4 carriers (<jats:italic>p</jats:italic> = 0.07), while volumetric extremes ( > 95% or < 5%) were detected for the anterior cingulate (100% of cases; <jats:italic>p</jats:italic> = 0.001), frontal cortices (90% of cases), hippocampus (80% of cases), and entorhinal cortices (70% of cases).</jats:p></jats:sec><jats:sec><jats:title>Interpretation</jats:title><jats:p>Early left amygdala volumetric reduction was found in E4 carriers; combined group volume comparisons revealed frontal and temporal lobe differences in young adults with SB relative to age‐ and sex‐matched volumetric estimates. This pilot investigation does not appear to support E4 conferring a pleiotropic benefit in young adults with SB but rather supports further investigation of MRI volumetrics as a possible biomarker for this population.</jats:p></jats:sec>
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Jasien, Joan M, Jacques A Stout, Mohamad A Mikati, Robert J Anderson, Brittany G Nave, Herbert E Fuchs, Brian Smith, Alexandra Badea, et al. (n.d.). Variation in Neurodegeneration‐Linked Brain Regions in Young Adult APOE E4 Carriers With Spina Bifida. Annals of the Child Neurology Society. 10.1002/cns3.70016 Retrieved from https://hdl.handle.net/10161/33105.
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Joan Mary Jasien
Dr. Joan Mary Jasien completed a med-peds residency and neurodevelopmental neurology and became boarded in internal medicine, pediatrics, neurology and is board eligible for neurodevelopment. She is the co-director of the Multidisciplinary Spina Bifida and Cerebral Palsy Related Conditions Clinics and cares for children and adults with neurodevelopmental disabilities at Duke University Medical Center in Durham, NC, USA. Her research focus is on neurological aging in Spina Bifida and other neurodevelopmental disabilities.
Alexandra Badea
I have a joint appointment in Radiology and Neurology and my research focuses on neurological conditions like Alzheimer’s disease. I work on imaging and analysis to provide a comprehensive characterization of the brain. MRI is particularly suitable for brain imaging, and diffusion tensor imaging is an important tool for studying brain microstructure, and the connectivity amongst gray matter regions.
I am interested in image segmentation, morphometry and shape analysis, as well as in integrating information from MRI with genetics, and behavior. Our approaches target: 1) phenotyping the neuroanatomy using imaging; 2) uncovering the link between structural and functional changes, the genetic bases, and environmental factors. I am interested in generating methods and tools for comprehensive phenotyping.
We use high-performance cluster computing to accelerate our image analysis. We use compressed sensing image reconstruction, and process large image arrays using deformable registration, perform segmentation based on multiple image contrasts including diffusion tensor imaging, as well as voxel, and graph analysis for connectomics.
At BIAC my efforts focus on developing multivariate biomarkers and identifying vulnerable networks based on genetic risk for Alzheimer's disease.
My enthusiasm comes from the possibility to extend from single to integrative multivariate and network based analyses to obtain a comprehensive picture of normal development and aging, stages of disease, and the effects of treatments. I am working on multivariate image analysis and predictive modeling approaches to help better understand early biomarkers for human disease indirectly through mouse models, as well as directly in human studies.
I am dedicated to supporting an increase in female presence in STEM fields, and love working with students. The Bass Connections teams involve undergraduate students in research, providing them the opportunity to do independent research studies and get involved with the community. These students have for example takes classes such as:
BME 394: Projects in Biomedical Engineering (GE)
BME 493: Projects in Biomedical Engineering (GE)
ECE 899: Special Readings in Electrical Engineering
NEUROSCI 493: Research Independent Study 1
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