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Biallelic Variants In Pcdhgc4 Cause A Novel Neurodevelopmental Syndrome With Progressive Microcephaly, Seizures, And Joint Anomalies, Maria Iqbal, Reza Maroofian, Büşranur Çavdarlı, Florence Riccardi, Michael Field, Siddharth Banka, Dalal K. Bubshait, Yun Li, Jozef Hertecant, Shahid Mahmood Baig 2021 University of Cologne and University Hospital Cologne, Cologne, Germany

Biallelic Variants In Pcdhgc4 Cause A Novel Neurodevelopmental Syndrome With Progressive Microcephaly, Seizures, And Joint Anomalies, Maria Iqbal, Reza Maroofian, Büşranur Çavdarlı, Florence Riccardi, Michael Field, Siddharth Banka, Dalal K. Bubshait, Yun Li, Jozef Hertecant, Shahid Mahmood Baig

Department of Biological & Biomedical Sciences

Purpose: We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition.
Methods: We performed a detailed clinical characterization of 19 individuals from nine unrelated, consanguineous families with a neurodevelopmental disorder. We used genome/exome sequencing approaches, linkage and cosegregation analyses to identify disease-causing variants, and we performed three-dimensional molecular in silico analysis to predict causality of variants where applicable.
Results: In all affected individuals who presented with a neurodevelopmental syndrome with progressive microcephaly, seizures, and intellectual disability we identified biallelic disease-causing variants in Protocadherin-gamma-C4 (PCDHGC4). Five variants were …


Christianity And Fear: The Neuropsychological Processes Involved In The Relationship Between Fear And Religion, Courtney Welch-Horstman 2021 College of Saint Benedict/Saint John's University

Christianity And Fear: The Neuropsychological Processes Involved In The Relationship Between Fear And Religion, Courtney Welch-Horstman

Obsculta

Religion frames the lives and minds of individuals who practice the Christian faith. Regarding the mind, this statement can be understood both figuratively and literally. The thought processes of human beings who claim to believe in God are strongly influenced by their perspective of Deity and what they think God's primary characteristic is. While some view God as loving, others view God as mainly angry and punishing. The way this question is answered by an individual reveals much about his or her neurocircuitry and which brain structures are most active and developed. These circuits and structures then impact the behaviors …


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.


Acute Effect Of High‑Definition And Conventional Tdcs On Exercise Performance And Psychophysiological Responses In Endurance Athletes: A Randomized Controlled Trial, Daniel Gomes da Silva Machado, Marom Bikson, Abhishek Datta, Egas Caparelli‑Dáquer, Gozde Unal, Abrahão F. Baptista, Edilson Serpeloni Cyrino, Li Min Li, Edgard Morya, Alexandre Moreira, Alexandre Hideki Okano 2021 State University of Londrina

Acute Effect Of High‑Definition And Conventional Tdcs On Exercise Performance And Psychophysiological Responses In Endurance Athletes: A Randomized Controlled Trial, Daniel Gomes Da Silva Machado, Marom Bikson, Abhishek Datta, Egas Caparelli‑Dáquer, Gozde Unal, Abrahão F. Baptista, Edilson Serpeloni Cyrino, Li Min Li, Edgard Morya, Alexandre Moreira, Alexandre Hideki Okano

Publications and Research

Transcranial direct current stimulation (tDCS) has been used aiming to boost exercise performance and inconsistent findings have been reported. One possible explanation is related to the limitations of the so-called “conventional” tDCS, which uses large rectangular electrodes, resulting in a diffuse electric field. A new tDCS technique called high-definition tDCS (HD-tDCS) has been recently developed. HD-tDCS uses small ring electrodes and produces improved focality and greater magnitude of its aftereffects. This study tested whether HD-tDCS would improve exercise performance to a greater extent than conventional tDCS. Twelve endurance athletes (29.4 ± 7.3 years; 60.15 ± 5.09 ml kg− 1 min− …


White Matter Hyperintensity Volume And Location: Associations With Wm Microstructure, Brain Iron, And Cerebral Perfusion, Christopher E. Bauer, Valentinos Zachariou, Elayna R. Seago, Brian T. Gold 2021 University of Kentucky

White Matter Hyperintensity Volume And Location: Associations With Wm Microstructure, Brain Iron, And Cerebral Perfusion, Christopher E. Bauer, Valentinos Zachariou, Elayna R. Seago, Brian T. Gold

Neuroscience Faculty Publications

Cerebral white matter hyperintensities (WMHs) represent macrostructural brain damage associated with various etiologies. However, the relative contributions of various etiologies to WMH volume, as assessed via different neuroimaging measures, is not well-understood. Here, we explored associations between three potential early markers of white matter hyperintensity volume. Specifically, the unique variance in total and regional WMH volumes accounted for by white matter microstructure, brain iron concentration and cerebral blood flow (CBF) was assessed. Regional volumes explored were periventricular and deep regions. Eighty healthy older adults (ages 60–86) were scanned at 3 Tesla MRI using fluid-attenuated inversion recovery, diffusion tensor imaging (DTI), …


Performance Of Openbci Eeg Binary Intent Classification With Laryngeal Imagery, Nathan George, Samuel Kuhn 2021 Regis University

Performance Of Openbci Eeg Binary Intent Classification With Laryngeal Imagery, Nathan George, Samuel Kuhn

Regis University Faculty Publications (comprehensive list)

One of the greatest goals of neuroscience in recent decades has been to rehabilitate individuals who no longer have a functional relationship between their mind and their body. Although neuroscience has produced technologies which allow the brains of paralyzed patients to accomplish tasks such as spell words or control a motorized wheelchair, these technologies utilize parts of the brain which may not be optimal for simultaneous use. For example, if you needed to look at flashing lights to spell words for communication, it would be difficult to simultaneously look at where you are moving. To improve upon this issue, this …


Rapid Microscopic Fractional Anisotropy Imaging Via An Optimized Linear Regression Formulation., N J J Arezza, D H Y Tse, C A Baron 2021 Western University

Rapid Microscopic Fractional Anisotropy Imaging Via An Optimized Linear Regression Formulation., N J J Arezza, D H Y Tse, C A Baron

Medical Biophysics Publications

Water diffusion anisotropy in the human brain is affected by disease, trauma, and development. Microscopic fractional anisotropy (μFA) is a diffusion MRI (dMRI) metric that can quantify water diffusion anisotropy independent of neuron fiber orientation dispersion. However, there are several different techniques to estimate μFA and few have demonstrated full brain imaging capabilities within clinically viable scan times and resolutions. Here, we present an optimized spherical tensor encoding (STE) technique to acquire μFA directly from the 2nd order cumulant expansion of the powder averaged dMRI signal obtained from direct linear regression (i.e. diffusion kurtosis) which requires fewer powder-averaged signals than …


Cerebellum-Seeded Functional Connectivity Changes In Trait-Anxious Individuals Undergoing Attention Bias Modification Training, Katherine Elwell 2021 Northern Michigan University

Cerebellum-Seeded Functional Connectivity Changes In Trait-Anxious Individuals Undergoing Attention Bias Modification Training, Katherine Elwell

All NMU Master's Theses

Anxiety and anxiety related disorders are increasing at a drastic rate in the past decade, with the NIMH reporting that 31.1% of U.S. adults will experience an anxiety disorder at some point in their lives. Anxiety is commonly characterized by increased attention bias to threat. Attention Bias Modification (ABM) is a new treatment used to reduce individual’s attention bias towards threat. The extent to which ABM leads to underlying neural changes is still unknown. The cerebellum is a neglected brain structure, with new research provides evidence that cerebellum’s functional connectivity and shared networks with threat processing regions has a direct …


The Effect Of A Mindfulness-Based Intervention On Attention And Cognitive Control As A Function Of Smartphone Notifications., Joshua D. Upshaw 2021 University of Arkansas, Fayetteville

The Effect Of A Mindfulness-Based Intervention On Attention And Cognitive Control As A Function Of Smartphone Notifications., Joshua D. Upshaw

Graduate Theses and Dissertations

Barriers to accessing mobile technology, particularly smartphones, have decreased substantially since the iPhone’s release in 2007, resulting in increased ownership and usage across all ages, genders, and races. Despite their ubiquity in our society, relatively little empirical work has investigated the influence of smartphones on our higher order executive functioning. Prior work has linked smartphone use with impaired cognitive control during cognitively demanding tasks, especially in heavier smartphone users. The goals of the current study were twofold. First, the study aimed to examine the effects of smartphone notifications on cognitive control and attention. And second, to determine the effects of …


The Balance Of Excitation And Inhibition And Its Influence On Cortical States And Rett Syndrome, Jingwen Li 2021 University of Arkansas, Fayetteville

The Balance Of Excitation And Inhibition And Its Influence On Cortical States And Rett Syndrome, Jingwen Li

Graduate Theses and Dissertations

Our brain consists of billions of neurons, properly coordinating to process information and realize brain functions. Among them, there are two types of neurons: excitatory neurons and inhibitory neurons. The firing of excitatory neurons increases the membrane potential of downstream neurons, and thus excites other neurons to fire. The firing of inhibitory neurons, in contrast, decreases the membrane potential of downstream neurons, and thus inhibits other neurons to fire. The interplay of excitatory and inhibitory neurons shape the spiking activity in the population. Thus, the `balance of excitation and inhibition' plays an important role in cortical processing and brain functions. …


Microfabrication And Electrochemical Characterization Of A Novel Su-8 Probe With An Array Of Individually Addressable Electrodes Suitable For Redox Cycling Experiments In Ultra-Small Volumes, Mahsa Lotfi Marchoubeh 2021 University of Arkansas, Fayetteville

Microfabrication And Electrochemical Characterization Of A Novel Su-8 Probe With An Array Of Individually Addressable Electrodes Suitable For Redox Cycling Experiments In Ultra-Small Volumes, Mahsa Lotfi Marchoubeh

Graduate Theses and Dissertations

Redox cycling is an electrochemical technique that utilizes closely spaced generator and collector electrodes to cycle reversible redox species between their oxidative states. With advantages in signal amplification, selectivity of species based on their electrochemical reaction mechanism, and limited or no background subtraction, this technique is well suited for selective detection of important electrochemically active molecules such as dopamine at basal or slowly changing levels.

Miniaturized medical devices have become an area of great interest for measurement of chemicals in limited volumes with low concentrations or in sensitive tissues. A probe on a polymeric SU-8 substrate with suitable dimensions and …


Somatic Inhibition By Microscopic Magnetic Stimulation, Hui Ye 2021 Loyola University Chicago

Somatic Inhibition By Microscopic Magnetic Stimulation, Hui Ye

Biology: Faculty Publications and Other Works

Electric currents can produce quick, reversible control of neural activity. Externally applied electric currents have been used in inhibiting certain ganglion cells in clinical practices. Via electromagnetic induction, a miniature-sized magnetic coil could provide focal stimulation to the ganglion neurons. Here we report that high-frequency stimulation with the miniature coil could reversibly block ganglion cell activity in marine mollusk Aplysia californica, regardless the firing frequency of the neurons, or concentration of potassium ions around the ganglion neurons. Presence of the ganglion sheath has minimal impact on the inhibitory effects of the coil. The inhibitory effect was local to the …


The Neurological Asymmetry Of Self-Face Recognition, Aleksandra Janowska, Brianna Balugas, Matthew Pardillo, Victoria Mistretta, Katherine Chavarria, Janet Brenya, Taylor Shelansky, Vanessa Martinez, Kitty Pagano, Nathira Ahmad, Samantha Zorns, Abigail Straus, Sarah Sierra, Julian Keenan 2021 Montclair State University

The Neurological Asymmetry Of Self-Face Recognition, Aleksandra Janowska, Brianna Balugas, Matthew Pardillo, Victoria Mistretta, Katherine Chavarria, Janet Brenya, Taylor Shelansky, Vanessa Martinez, Kitty Pagano, Nathira Ahmad, Samantha Zorns, Abigail Straus, Sarah Sierra, Julian Keenan

Department of Biology Faculty Scholarship and Creative Works

While the desire to uncover the neural correlates of consciousness has taken numerous directions, self-face recognition has been a constant in attempts to isolate aspects of self-awareness. The neuroimaging revolution of the 1990s brought about systematic attempts to isolate the underlying neural basis of self-face recognition. These studies, including some of the first fMRI (functional magnetic resonance imaging) examinations, revealed a right-hemisphere bias for self-face recognition in a diverse set of regions including the insula, the dorsal frontal lobe, the temporal parietal junction, and the medial temporal cortex. In this systematic review, we provide confirmation of these data (which are …


Healthy Dietary Intake Moderates The Effects Of Age On Brain Iron Concentration And Working Memory Performance, Valentinos Zachariou, Christopher E. Bauer, Elayna R. Seago, Georgia Panayiotou, Edward D. Hall, D. Allan Butterfield, Brian T. Gold 2021 University of Kentucky

Healthy Dietary Intake Moderates The Effects Of Age On Brain Iron Concentration And Working Memory Performance, Valentinos Zachariou, Christopher E. Bauer, Elayna R. Seago, Georgia Panayiotou, Edward D. Hall, D. Allan Butterfield, Brian T. Gold

Neuroscience Faculty Publications

Age-related brain iron accumulation is linked with oxidative stress, neurodegeneration and cognitive decline. Certain nutrients can reduce brain iron concentration in animal models, however, this association is not well established in humans. Moreover, it remains unknown if nutrition can moderate the effects of age on brain iron concentration and/or cognition. Here, we explored these issues in a sample of 73 healthy older adults (61-86 years old), while controlling for several factors such as age, gender, years of education, physical fitness and alcohol-intake. Quantitative susceptibility mapping was used for assessment of brain iron concentration and participants performed an N-Back paradigm to …


Sites Of Circadian Clock Neuron Plasticity Mediate Sensory Integration And Entrainment, Maria P. Fernand, Hannah L. Pettibone, Joseph T. Bogart, Casey J. Roell, Charles E. Davey, Ausra Pranevicius, Khang V. Huynh, Sara M. Lennox, Boyan Kostadinov, Orie T. Shafer 2021 CUNY Graduate Center

Sites Of Circadian Clock Neuron Plasticity Mediate Sensory Integration And Entrainment, Maria P. Fernand, Hannah L. Pettibone, Joseph T. Bogart, Casey J. Roell, Charles E. Davey, Ausra Pranevicius, Khang V. Huynh, Sara M. Lennox, Boyan Kostadinov, Orie T. Shafer

Publications and Research

Networks of circadian timekeeping in the brain display marked daily changes in neuronal morphology. In Drosophila melanogaster, the striking daily structural remodeling of the dorsal medial termini of the small ventral lateral neurons has long been hypothesized to mediate endogenous circadian timekeeping. To test this model, we have specifically abrogated these sites of daily neuronal remodeling through the reprogramming of neural development and assessed the effects on circadian timekeeping and clock outputs. Remarkably, the loss of these sites has no measurable effects on endogenous circadian timekeeping or on any of the major output functions of the small ventral lateral neurons. …


Where To Draw The Line: Evaluating Visuospatial And Attentional Processing In Individuals With Autism Spectrum Disorders, Alisha Steigerwald 2021 Portland State University

Where To Draw The Line: Evaluating Visuospatial And Attentional Processing In Individuals With Autism Spectrum Disorders, Alisha Steigerwald

University Honors Theses

Objective: We investigated visuospatial processing in individuals with autism using bisection and quadrisection tasks to evaluate the presence of a possible downward vertical spatial bias that could provide insights into the preference for attending to the mouth in ASD populations.

Methods: Twenty participants with ASD and 20 age, IQ, and sex-matched control participants were recruited (ages 6-23). Participants were asked to bisect, quadrisect from the top, and quadrisect from the bottom vertical lines placed in their left, center, and right visual spaces. Distance from the true midpoint and quadripoint were calculated and compared between the two groups.

Results: No significant …


The Effect Of Diazepam On Early Neural Stem Cells Proliferative Activity And Hippocampal-Dependent Memory After Traumatic Brain Injury, Van Khanh Doan 2021 Portland State University

The Effect Of Diazepam On Early Neural Stem Cells Proliferative Activity And Hippocampal-Dependent Memory After Traumatic Brain Injury, Van Khanh Doan

University Honors Theses

Traumatic brain injury (TBI) induces an upregulation of neurogenesis in the brain specifically in the hippocampus, an area pertaining to learning and memory formation. Although this upregulated response is intuitively thought to be restorative, previous studies show that the nascent neurons generated after TBI exhibit abnormalities, such as aberrant morphologies and early migrations, which could suggest to be maladaptive. The GABA-A agonist diazepam has been shown to inhibit this upregulation in neurogenesis and normalizes dendrites after TBI. To determine whether this modulation of neurogenesis is ultimately beneficial or detrimental to cognitive recovery, diazepam was administered to C57BI/6J wild-type mice following …


A Historical Perspective On Training Students To Create Standardized Maps Of Novel Brain Structure: Newly-Uncovered Resonances Between Past And Present Research-Based Neuroanatomy Curricula, Arshad Khan, Christina D'Arcy, Jeffrey Olimpo 2021 University of Texas at El Paso

A Historical Perspective On Training Students To Create Standardized Maps Of Novel Brain Structure: Newly-Uncovered Resonances Between Past And Present Research-Based Neuroanatomy Curricula, Arshad Khan, Christina D'Arcy, Jeffrey Olimpo

Selected Works Temporary Series

Recent efforts to reform postsecondary STEM education in the U.S. have resulted in the creation of course-based undergraduate research experiences (CUREs), which, among other outcomes, have successfully retained freshmen in their chosen STEM majors and provided them with a greater sense of identity as scientists by enabling them to experience how research is conducted in a laboratory setting. In 2014, we launched our own laboratory-based CURE, Brain Mapping & Connectomics (BMC). Now in its seventh year, BMC trains University of Texas at El Paso (UTEP) undergraduates to identify and label neuron populations in the rat brain, analyze their cytoarchitecture, and …


A Historical Perspective On Training Students To Create Standardized Maps Of Novel Brain Structure: Newly-Uncovered Resonances Between Past And Present Research-Based Neuroanatomy Curricula, Khan, Christina D'Arcy, Jeffrey Olimpo 2021 University of Texas at El Paso

A Historical Perspective On Training Students To Create Standardized Maps Of Novel Brain Structure: Newly-Uncovered Resonances Between Past And Present Research-Based Neuroanatomy Curricula, Khan, Christina D'Arcy, Jeffrey Olimpo

Departmental Papers (Biology)

Recent efforts to reform postsecondary STEM education in the U.S. have resulted in the creation of course-based undergraduate research experiences (CUREs), which, among other outcomes, have successfully retained freshmen in their chosen STEM majors and provided them with a greater sense of identity as scientists by enabling them to experience how research is conducted in a laboratory setting. In 2014, we launched our own laboratory-based CURE, Brain Mapping & Connectomics (BMC). Now in its seventh year, BMC trains University of Texas at El Paso (UTEP) undergraduates to identify and label neuron populations in the rat brain, analyze their cytoarchitecture, and …


Severe Covid-19 In Alzheimer’S Disease: Apoe4’S Fault Again?, Nian Xiong, Martin R. Schiller, Jingwen Li, Xiaowu Chen, Zhicheng Lin 2021 Tongji Medical College

Severe Covid-19 In Alzheimer’S Disease: Apoe4’S Fault Again?, Nian Xiong, Martin R. Schiller, Jingwen Li, Xiaowu Chen, Zhicheng Lin

Life Sciences Faculty Research

Challenges have been recognized in healthcare of patients with Alzheimer’s disease (AD) in the COVID-19 pandemic, given a high infection and mortality rate of COVID-19 in these patients. This situation urges the identification of underlying risks and preferably biomarkers for evidence-based, more effective healthcare. Towards this goal, current literature review and network analysis synthesize available information on the AD-related gene APOE into four lines of mechanistic evidence. At a cellular level, the risk isoform APOE4 confers high infectivity by the underlying coronavirus SARS-CoV-2; at a genetic level, APOE4 is associated with severe COVID-19; at a pathway level, networking connects APOE …


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