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In Pursuit: A Mother’S Account Of Her Son’S Rare Disease Diagnosis Journey, Anne M. Jones 2021 none (parent of patient)

In Pursuit: A Mother’S Account Of Her Son’S Rare Disease Diagnosis Journey, Anne M. Jones

Journal of Patient-Centered Research and Reviews

A personal account from a mother’s perspective on her undiagnosed son’s medical journey over almost 6 years toward a diagnosis of a rare genetic variant in mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3) resulting in neurodevelopment disorder.


Multiple Sclerosis And Its Symptom Management Through Supplementation And Dietary Planning, Lindsey J. Davis 2021 Southeastern University - Lakeland

Multiple Sclerosis And Its Symptom Management Through Supplementation And Dietary Planning, Lindsey J. Davis

Selected Honors Theses

Multiple Sclerosis (MS) is an autoimmune, neuroinflammatory disorder that is characterized by the breakdown of myelinated axons in the Central and Peripheral Nervous Systems. It is a potentially debilitating autoimmune disease that affects almost 1 million people in the United States, and nearly 2.5 million people worldwide. The precise etiology of MS is still being researched, but much progress has been made towards understanding the molecular mechanisms and impactful ways to treat this disease. While there is still no cure, new treatment plans are constantly being orchestrated in effort to alleviate the burden that MS carries. Combination treatment plans have …


Apathy And Brain Atrophy During The First Year Of Moderate-Severe Traumatic Brain Injury: A Longitudinal Study, Gulnaz Kudoiarova 2021 CUNY Graduate Center

Apathy And Brain Atrophy During The First Year Of Moderate-Severe Traumatic Brain Injury: A Longitudinal Study, Gulnaz Kudoiarova

Dissertations, Theses, and Capstone Projects

Apathy, defined as disinterest and loss of motivation, is a common complication after moderate-severe traumatic brain injury (msTBI). The existing body of research in various neurological and neurodegenerative disorders suggests that apathetic symptoms may be associated with variation in the volume of the brain regions such as dorsal anterior cingulate cortex and ventral striatum. However, the longitudinal pattern of TBI-induced atrophy in these key regions and its relationship with apathy symptoms remain to be demonstrated. The current study aimed to describe the atrophy pattern in the anterior cingulate gyrus (ACG) and the nucleus accumbens (NAc; part of ventral striatum) after …


Medical Schools Ignore The Nature Of Consciousness At Great Cost, Anoop Kumar 2021 independent scholar

Medical Schools Ignore The Nature Of Consciousness At Great Cost, Anoop Kumar

Journal of Wellness

The essential question of the relationship between consciousness and matter is ignored in medical school curricula, leading to a machine-like view of the human being that contributes to physician burnout and intellectual dissatisfaction. The evidence suggesting that the brain may not be the seat of consciousness is generally ignored to preserve the worldview of the primacy of matter. By investigating new frameworks detailing the nature of consciousness at different levels of hierarchy, we can bring intellectual rigor to a once opaque subject that supports a fundamental reality about our experience: We are human beings, not only human bodies.


Machine Learning Classification Of Traumatic Brain Injury Patients Versus Healthy Controls Using Arterial Spin Labeled Perfusion Mri, Vanessa I. Grass 2021 CUNY Graduate Center

Machine Learning Classification Of Traumatic Brain Injury Patients Versus Healthy Controls Using Arterial Spin Labeled Perfusion Mri, Vanessa I. Grass

Dissertations, Theses, and Capstone Projects

Traumatic brain injury (TBI) is one of the most common causes of death and disability worldwide, yet accurate in vivo detection of TBI neuropathology remains challenging due to complexities in the structural and functional changes observed post-injury as well as limitations in conventional neuroimaging modalities. Although advanced neuroimaging techniques such as arterial spin labeling (ASL) can noninvasively assess cerebral blood flow (CBF) changes observed post-injury, this technique is underutilized in TBI research partly due to the low signal-to-noise-ratio (SNR) inherent in ASL imaging. The aim of the current study is to examine the use of machine learning, specifically a Support …


Exploring The Usefulness Of Mindfulness Practices Through Zoom Meetings In Reducing Anxiety And/Or Stress Of Adults With Learning And Developmental Disabilities During The Covid-19 Pandemic, Thatiane Abra 2021 Lesley University

Exploring The Usefulness Of Mindfulness Practices Through Zoom Meetings In Reducing Anxiety And/Or Stress Of Adults With Learning And Developmental Disabilities During The Covid-19 Pandemic, Thatiane Abra

Expressive Therapies Capstone Theses

This thesis explored which mindfulness meditations or mindfulness practices could be beneficial in the online sessions, the extent to which adults with learning and developmental disabilities could learn the practices remotely, and how stress and anxiety disorders could be reduced through online mindfulness interventions. Furthermore, it was also necessary to address the online sessions as the only mental health treatment possibility during the Coronavirus pandemic for the clients observed and the benefits and limitations of these interventions. Additionally, the importance of structure and routine for this population, the multi-modal structure of the interventions, and how attunement plays an important role …


Portable Low Field Strength Mri: Preliminary Experience In Neonates And Children, Johnston Fite 2021 Children's Mercy Kansas City

Portable Low Field Strength Mri: Preliminary Experience In Neonates And Children, Johnston Fite

Research Days

Background: High field strength MRI (HF-MRI) is a pediatric imaging staple. However, HF-MRI access is limited by strong (1.5 – 3.0 T) magnetic fields with associated safety concerns, space requirements, and cost. To address these limitations, Hyperfine (Guilford, CT) developed a low magnetic field (0.064 T) portable MRI device, named Swoop. Preliminary data in adults shows benefits despite decreased image quality. In this study, initial evaluation of Swoop’s image quality in pediatric patients was assessed.

Objectives/Goal: The objective in this study was the initial evaluation of Swoop’s image quality in pediatric patients to serve as a baseline.

Methods/Design: The study …


The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan 2021 University of Connecticut

The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan

University Scholar Projects

The granule cells are the most abundant neuronal type in the human brain. Rapid proliferation of granule cell progenitors results in dramatic expansion and folding of the cerebellar cortex during postnatal development. Mis-regulation of this proliferation process causes medulloblastoma, the most prevalent childhood brain tumor. In the developing cerebellum, granule cells are derived from Atoh1-expressing cells, which arise from the upper rhombic lip (the interface between the roof plate and neuroepithelium). In addition to granule cells, the Atoh1 lineage also gives rise to different types of neurons including cerebellar nuclei neurons. In the current study, I have investigated the …


The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan 2021 University of Connecticut

The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan

Honors Scholar Theses

The granule cells are the most abundant neuronal type in the human brain. Rapid proliferation of granule cell progenitors results in dramatic expansion and folding of the cerebellar cortex during postnatal development. Mis-regulation of this proliferation process causes medulloblastoma, the most prevalent childhood brain tumor. In the developing cerebellum, granule cells are derived from Atoh1-expressing cells, which arise from the upper rhombic lip (the interface between the roof plate and neuroepithelium). In addition to granule cells, the Atoh1 lineage also gives rise to different types of neurons including cerebellar nuclei neurons. In the current study, I have investigated the …


Terson-Like Syndrome Associated With Familial Retinal Arteriolar Tortuosity (Frat) And A Spontaneous Spinal Hemorrhage, Peter Maduka, David R. Lally 2021 Rowan University

Terson-Like Syndrome Associated With Familial Retinal Arteriolar Tortuosity (Frat) And A Spontaneous Spinal Hemorrhage, Peter Maduka, David R. Lally

Rowan-Virtua Research Day

Background: Familial retinal arteriolar tortuosity (fRAT) is an autosomal dominant disorder that is characterized by tortuosity of the second and third order retinal arterioles in the macular and peripapillary areas. The genetics of fRAT are incompletely understood but have been associated with a missense mutation in the COL4A1 gene in some cases. fRAT is not typically associated with visual loss and prognosis is good. However, the tortuous arterioles can bleed, causing intraretinal, preretinal, and/or subretinal hemorrhages.

Objective: To describe a case of Terson-like syndrome associated with familial retinal arteriolar tortuosity (fRAT) in the setting of spontaneous spinal hemorrhage.

Results: A …


Case Report: Repeated Use Of Tetrahydrocannabinol Associated With Severe Cerebral Vasoconstriction, Pooja Patel, Ryna Then, Dena Little 2021 Rowan University

Case Report: Repeated Use Of Tetrahydrocannabinol Associated With Severe Cerebral Vasoconstriction, Pooja Patel, Ryna Then, Dena Little

Rowan-Virtua Research Day

Reversible Cerebral Vasoconstriction Syndrome (RCVS) is a rare neurological syndrome. The classic presentation consists of recurrent, severe, ”thunderclap” headaches with neuroimaging findings consistent with segmental vasoconstriction of cerebral arteries. Sympathomimetics including cannabinoids have been found to be triggers in many cases of RCVS. Complications include subarachnoid hemorrhage, intracerebral hemorrhage, cerebral edema and ischemic infarction.

This case highlights the potential devastating and irreversible effects of RCVS precipitated by exposure to a sympathomimetic agent. The case emphasizes the importance of patient counseling regarding abstinence from agents that may provoke RCVS.


A Case Of Spinal Epidural Lipomatosis Presenting As A Stroke Mimic, Jonas Salna IV, James Lee, Eric Maddock, James Espinosa, Alan Lucerna 2021 Rowan University

A Case Of Spinal Epidural Lipomatosis Presenting As A Stroke Mimic, Jonas Salna Iv, James Lee, Eric Maddock, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

Spinal Epidural Lipomatosis (SEL) an excess of normal adipose tissue in the epidural space of the spinal canal, typically becoming symptomatic when cord compression results. First described in 1975 by Lee et al (Lee M, 1975), it is a relatively rare disease. Unfortunately, it is often diagnosed once patients have developed marked symptoms and can have dire complications. Oftentimes SEL is completely asymptomatic, and symptoms on initial presentation are vague. Mostly commonly it presents as worsening chronic back pain (Daniel R. Fassett M.D. M.B.A., 2004) with progressive lower extremity weakness and occasional cauda equina syndrome (Wells AJ, 2014), but this …


Hippocampal Connectivity In Parkinson's Disease, Landis Llewelyn 2021 University of Mississippi

Hippocampal Connectivity In Parkinson's Disease, Landis Llewelyn

Honors Theses

Background: This thesis was conducted in order to investigate possible connections between functional connectivity of the hippocampus in individuals who have Parkinson’s disease.

Methods: The MRI images, the clinical data, and the demographic data of 93 individuals with PD and 18 individuals without PD were obtained from the Parkinson's Progression Markers Initiative. Resting-state fMRI data from a group of PD patients was compared to a control group of non-PD patients by using previously published methods with FMRIB Software Library (FSL) as well as Analysis of Functional Neuroimages (AFNI).

Results: Compared to the control (non-PD) group, results bilaterally showed lesser connectivity …


C25: The “Spot Sign”: A Predictor Of Hematoma Expansion, Mckenzie Merritt 2021 Roseman University of Health Sciences

C25: The “Spot Sign”: A Predictor Of Hematoma Expansion, Mckenzie Merritt

Annual Research Symposium

No abstract provided.


Ion Channel Candidates Mediating Orexin Neuropeptide Actions On Brainstem Serotonergic Neurons, Saqlain Javed 2021 Touro College and University System

Ion Channel Candidates Mediating Orexin Neuropeptide Actions On Brainstem Serotonergic Neurons, Saqlain Javed

NYMC Student Theses and Dissertations

A loss of neurons that synthesize the neuropeptide orexin produces the sleep disorder narcolepsy with cataplexy in humans and other animals. How symptoms of this disorder arise is not well understood, but selectively restoring orexin actions at 5-HT DR neurons rescues key symptoms (cataplexy), suggesting normal orexin signaling is important at these neurons. To better understand how orexin acts on these neurons, our lab identified a set of novel orexin actions that appear mediated by unidentified cation- permeable ion channels. To narrow down the list of possible channels, we used a bioinformatics approach to compare published gene expression profiles of …


Neurophysiology Of Space Medicine: A Literature Review, Jose R. Velasquez 2021 The University of Texas Rio Grande Valley

Neurophysiology Of Space Medicine: A Literature Review, Jose R. Velasquez

MEDI 9331 Scholarly Activities Clinical Years

Space medicine is becoming an essential and expanding clinical discipline. Acquiring a deeper and complete picture understanding of the multi-systemic response due to space on human health and function is essential to ensure the success of future space exploration. A comprehensive review of the literature was performed using PubMed and focused on the current neurophysiologic findings of the central nervous system’s response to space. Ground-based analogues, which mimic the effects of microgravity, and actual spaceflight studies have been used to analyze these physiologic adaptations to space. Overall, cerebellar, sensorimotor and vestibular brain regions seem to be affected the most. Through …


Deep-Learning-Based Multivariate Pattern Analysis (Dmvpa): A Tutorial And A Toolbox, Karl M. Kuntzelman, Jacob M. Williams, Phui Cheng Lim, Ashtok Samal, Prahalada K. Rao, Matthew R. Johnson 2021 University of Nebraska - Lincoln

Deep-Learning-Based Multivariate Pattern Analysis (Dmvpa): A Tutorial And A Toolbox, Karl M. Kuntzelman, Jacob M. Williams, Phui Cheng Lim, Ashtok Samal, Prahalada K. Rao, Matthew R. Johnson

Center for Brain, Biology, and Behavior: Faculty Publications

In recent years, multivariate pattern analysis (MVPA) has been hugely beneficial for cognitive neuroscience by making new experiment designs possible and by increasing the inferential power of functional magnetic resonance imaging (fMRI), electroencephalography (EEG), and other neuroimaging methodologies. In a similar time frame, “deep learning” (a term for the use of artificial neural networks with convolutional, recurrent, or similarly sophisticated architectures) has produced a parallel revolution in the field of machine learning and has been employed across a wide variety of applications. Traditional MVPA also uses a form of machine learning, but most commonly with much simpler techniques based on …


Measuring Mitochondrial Respiration In Vivo: From Mouse To Human, Arthur Orchanian, Brennan Schilling, Bruce Berkowitz PhD 2021 Wayne State University

Measuring Mitochondrial Respiration In Vivo: From Mouse To Human, Arthur Orchanian, Brennan Schilling, Bruce Berkowitz Phd

Medical Student Research Symposium

Introduction: The mitochondrial energy ecosystem can be non-invasively interrogated in photoreceptors by combing a clinical tool, optical coherence tomography (OCT), with a mitochondrial protonophore (2,4 dinitrophenol, DNP). It remains unclear if only supra-clinical doses of DNP will be useful for mouse studies or if lower but clinically relevant doses of DNP would facilitate translation from mice to humans.

Methods: The experiment was a paired longitudinal design that took place over 2 days. On day 1, C57BL/6J mice were overnight dark adapted, then light-adapted for 5 h before OCT examination before regaining consciousness; a similar procedure was followed on day 2 …


Resting Cerebral Oxygen Metabolism Exhibits Archetypal Network Features, Nicholas A. Hubbard, Monroe P. Turner, Kevin R. Sitek, Kathryn L. West, Jakub R. Kaczmarzyk, Lyndahl Himes, Binu P. Thomas, Hanzhang Lu, Bart Rypma 2021 Massachusetts Institute of Technology

Resting Cerebral Oxygen Metabolism Exhibits Archetypal Network Features, Nicholas A. Hubbard, Monroe P. Turner, Kevin R. Sitek, Kathryn L. West, Jakub R. Kaczmarzyk, Lyndahl Himes, Binu P. Thomas, Hanzhang Lu, Bart Rypma

Center for Brain, Biology, and Behavior: Faculty Publications

Standard magnetic resonance imaging approaches offer high-resolution but indirect measures of neural activity, limiting understanding of the physiological processes associated with imaging findings. Here, we used calibrated functional magnetic resonance imaging during the resting state to recover low-frequency fluctuations of the cerebral metabolic rate of oxygen (CMRO2). We tested whether functional connections derived from these fluctuations exhibited organization properties similar to those established by previous standard functional and anatomical connectivity studies. Seventeen participants underwent 20 min of resting imaging during dual-echo, pseudocontinuous arterial spin labeling, and blood-oxygen-level dependent (BOLD) signal acquisition. Participants also underwent a 10 min normocapnic and hypercapnic …


Somatosensory Dysfunction Is Masked By Variable Cognitive Deficits Across Patients On The Alzheimer’S Disease Spectrum, Alex I. Wiesman, Victoria M. Mundorf, Chloe C. Casagrande, Sara L. Wolfson, Craig M. Johnson, Pamela E. May, Daniel L. Murman, Tony W. Wilson 2021 McGill University

Somatosensory Dysfunction Is Masked By Variable Cognitive Deficits Across Patients On The Alzheimer’S Disease Spectrum, Alex I. Wiesman, Victoria M. Mundorf, Chloe C. Casagrande, Sara L. Wolfson, Craig M. Johnson, Pamela E. May, Daniel L. Murman, Tony W. Wilson

Center for Brain, Biology, and Behavior: Faculty Publications

Background: Alzheimer’s disease (AD) is generally thought to spare primary sensory function; however, such interpretations have drawn from a literature that has rarely taken into account the variable cognitive declines seen in patients with AD. As these cognitive domains are now known to modulate cortical somato-sensory processing, it remains possible that abnormalities in somatosensory function in patients with AD have been suppressed by neuropsychological variability in previous research. Methods: In this study, we combine magnetoencephalographic (MEG) brain imaging during a paired-pulse somatosensory gating task with an extensive battery of neuropsychological tests to investigate the influence of cognitive variability on estimated …


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