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Rare And Low Frequency Genomic Variants Impacting Neuronal Functions Modify The Dup7q11.23 Phenotype, Farah Qaiser, Yue Yin, Carolyn B. Mervis, Colleen A. Morris, Bonita P. Klein-Tasman, Elaine Tam, Lucy R. Osborne, Ryan K.C. Yuen 2021 University of Toronto

Rare And Low Frequency Genomic Variants Impacting Neuronal Functions Modify The Dup7q11.23 Phenotype, Farah Qaiser, Yue Yin, Carolyn B. Mervis, Colleen A. Morris, Bonita P. Klein-Tasman, Elaine Tam, Lucy R. Osborne, Ryan K.C. Yuen

School of Medicine Faculty Publications

© 2021, The Author(s). Background: 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carriers have ASD, suggesting that additional genetic factors are necessary to manifest the ASD phenotype. To assess the contribution of additional genetic variants to the Dup7 phenotype, we conducted whole-genome sequencing analysis of 20 Dup7 carriers: nine with ASD (Dup7-ASD) and 11 without ASD (Dup7-non-ASD). Results: We identified three rare variants of potential clinical relevance for ASD: a 1q21.1 microdeletion (Dup7-non-ASD) and two ...


Exploring Tactile Art-Making With Deafblind Students And Their Families: An Opportunity For Creative Play, Alice Rodgers 2021 Lesley University

Exploring Tactile Art-Making With Deafblind Students And Their Families: An Opportunity For Creative Play, Alice Rodgers

Expressive Therapies Capstone Theses

The impact of a deafblind diagnosis on an individual’s mental health and the well-being of the family involved can be profound. However, current research and available literature for the mental health treatment and therapy practices of deafblind persons and their families is limited (Kyzar et al., 2016; “WFDB Global Report 2018,” n.d.). This thesis used the Leeds Family Psychology and Therapy Service principles (Leeds FPTS) and the Expressive Therapies Continuum with established deafblind teaching strategies to facilitate an original arts-based community project entitled: “Things We Like.” This project provided an opportunity for deafblind students (ages three to 22 ...


Proceedings From The Second Annual Society For Neurosports Conference, William R. Kochen 2021 Nova Southeastern University

Proceedings From The Second Annual Society For Neurosports Conference, William R. Kochen

NeuroSports

Proceedings from the Second Annual Society for NeuroSports Conference


Muscular Performance And Neuromuscular Fatigue Are Not Sex-Dependent During Low-Load Fatiguing Bilateral Leg Extension Exercise, Taylor K. Dinyer, Evangeline P. Soucie, Pasquale J. Succi, Caleb C. Voskuil, M. Travis Byrd, Haley C. Bergstrom 2021 University of Kentucky

Muscular Performance And Neuromuscular Fatigue Are Not Sex-Dependent During Low-Load Fatiguing Bilateral Leg Extension Exercise, Taylor K. Dinyer, Evangeline P. Soucie, Pasquale J. Succi, Caleb C. Voskuil, M. Travis Byrd, Haley C. Bergstrom

NeuroSports

Purpose. This study examined the sex-related differences in muscular performance and neuromuscular (electromyographic [EMG] and mechanomyographic [MMG] amplitude [AMP] and mean power frequency [MPF]) responses during fatiguing leg extension repetitions performed at the critical load (CL). Methods. Eleven men and nine women completed one-repetition maximum (1RM) testing, repetitions to failure at 50, 60, 70, and 80% 1RM to determine CL, and repetitions to failure at CL, on separate days. The EMG and MMG, AMP and MPF signals and number of repetitions completed were recorded. Results. There were no sex-dependent responses in the %1RM that corresponded to, the number of repetitions ...


Gpr171 As A Novel Target To Treat Neuropathic Pain, Erin Bobeck 2021 Utah State University

Gpr171 As A Novel Target To Treat Neuropathic Pain, Erin Bobeck

Funded Research Records

No abstract provided.


Vitamin B12 Deficiency Does Not Stimulate Amyloid-Beta Toxicity In A Ceanorhabditis Elegans Model Of Alzheimer’S Disease, Opeyemi F. Showemimo 2021 East Tennessee State University

Vitamin B12 Deficiency Does Not Stimulate Amyloid-Beta Toxicity In A Ceanorhabditis Elegans Model Of Alzheimer’S Disease, Opeyemi F. Showemimo

Electronic Theses and Dissertations

Alzheimer’s disease (AD) is symptomized by amyloid-beta plaques in the brain and accounts for more than 65 percent of dementia cases. Vitamin B12 (cobalamin) deficiency can result in similar cognitive impairment and roughly 15% of the elderly are vitamin B12 deficient. Vitamin B12 deficiency results in the accumulation of toxic methylmalonic acid and homocysteine. Hyperhomocysteinemia is a strong risk factor for AD. To test if vitamin B12 deficiency stimulates amyloid-beta toxicity, Caenorhabditis elegans expressing amyloid-beta in muscle were fed either vitamin B12-deficient OP50-1 or vitamin B12-rich HT115(DE3) E. coli bacteria. Increased amyloid-beta toxicity was found in worms fed ...


Using Deep Learning For Children Brain Image Analysis, Rafael Toche Pizano 2021 University of Arkansas, Fayetteville

Using Deep Learning For Children Brain Image Analysis, Rafael Toche Pizano

Computer Science and Computer Engineering Undergraduate Honors Theses

Analyzing the correlation between brain volumetric/morphometry features and cognition/behavior in children is important in the field of pediatrics as identifying such relationships can help identify children who may be at risk for illnesses. Understanding these relationships can not only help identify children who may be at risk of illnesses, but it can also help evaluate strategies that promote brain development in children. Currently, one way to do this is to use traditional statistical methods such as a correlation analysis, but such an approach does not make it easy to generalize and predict how brain volumetric/morphometry will impact ...


How The Covid-19 Pandemic Has Affected Physical Activity, Sleep And Mental Health In University Students, Faculty And Staff And To Examine The Relationship Between These Variables, Zachary Parisi 2021 University of Arkansas, Fayetteville

How The Covid-19 Pandemic Has Affected Physical Activity, Sleep And Mental Health In University Students, Faculty And Staff And To Examine The Relationship Between These Variables, Zachary Parisi

Health, Human Performance and Recreation Undergraduate Honors Theses

Background: Increased physical activity has been shown to be beneficial in decreasing stress. This project will expand on this knowledge while also studying college students, a demographic that has been less studied. This study will also examine the impact of COVID-19 on these variables. COVID-19 changed many peoples’ activities of daily life, and possibly physically activity levels, due to public health measures such as lockdowns and remote learning. Purpose: The purpose of this study is to examine how the COVID-19 pandemic has affected physical activity, sleep, and mental health in university students, faculty and staff and to examine the relationship ...


Psychedelics Can Save: The Scientific And Social Case For Rescheduling Psychedelic Compounds, Galen M. Fader 2021 University of Tennessee, Knoxville

Psychedelics Can Save: The Scientific And Social Case For Rescheduling Psychedelic Compounds, Galen M. Fader

Chancellor’s Honors Program Projects

No abstract provided.


Examining The Role Of The Drosophila Melanogaster Unc13 Protein In Open Field Activity Using Rnai, Islam Orabi 2021 University of Mississippi

Examining The Role Of The Drosophila Melanogaster Unc13 Protein In Open Field Activity Using Rnai, Islam Orabi

Honors Theses

Unc13 are proteins in the presynaptic neurons essential in controlling synaptic vesicle fusion and synaptic transmission. Recently, the reduction of Drosophila melanogaster Unc13 proteins (Dunc13), were found to result in a resistance to alcohol, highly reminiscent of tolerance formation. I investigated whether genetically reducing Dunc13 activity in Drosophila brain regions leads to different forms of behavioral plasticity using an open field activity paradigm. In my approach, a Dunc13 RNAi transgene was expressed in the Drosophila brain within the mushroom body, the ellipsoid body, and in all neurons. The activities of the flies were examined in the open field paradigm to ...


Translational Fidelity And Its Role In Neuronal Homeostasis, Markus Terrey 2021 University of Maine

Translational Fidelity And Its Role In Neuronal Homeostasis, Markus Terrey

Electronic Theses and Dissertations

The process of translation, which refers to decoding genetic information from mRNA to protein, is vital for all cellular function. Translational fidelity starts at the level of aminoacylation of transfer RNAs (tRNA). This reaction is catalyzed by aminoacyl tRNA synthetases where each amino acid is transferred to its corresponding cognate tRNA. Because tRNAs harbor the anticodon sequence to decodes a particular mRNA codon, the specific aminoacylation of the tRNA with a cognate amino acid establishes the rules of decoding genetic code into proteins. Aminoacylated tRNAs are then delivered to ribosomes, where ribosomes in a highly organized manner need to accurately ...


Meta-Analysis Of Long Term Executive Functioning Deficits In Individuals With Mild Traumatic Brain Injuries, Dominique Ballinger 2021 Ursinus College

Meta-Analysis Of Long Term Executive Functioning Deficits In Individuals With Mild Traumatic Brain Injuries, Dominique Ballinger

Neuroscience Honors Papers

Performed a meta-analysis of studies examining the long-term executive functioning deficits after suffering several mild traumatic brain injuries. Data was collected from multiple primary sources under several, specific criteria to find the best methods in demonstrating the longevity and urgencies in suffering several mTBIs.


The Role Of The Dal Neurons In Modulating Circadian Rhythms In Olfactory Short-Term Memory In Drosophila Melanogaster, Cooper Ruwe 2021 University of Mississippi

The Role Of The Dal Neurons In Modulating Circadian Rhythms In Olfactory Short-Term Memory In Drosophila Melanogaster, Cooper Ruwe

Honors Theses

Depressed short-term memory (STM) abilities during non-adaptive times of the day can significantly impact those who work occupations that require peak levels of cognitive functioning around the clock. While much work has gone into understanding the endogenous clock and circadian rhythms, there is still much to learn about the neural circuity that underlies the daily rhythms that define these regular oscillations in STM performance. The DAL neurons in the Drosophila brain are part of the circadian network and innervate the mushroom bodies (MBs), the species’ olfactory learning center, making them compelling candidates to be involved in circadian circuitry for olfactory ...


Endoplasmic Reticulum Stress Induces Axon Initial Segment Shortening In Cortical Neuron Culture, Jennae Shelby, Ryan B. Griggs, Josef Steinbrunner, Keiichiro Susuki 2021 Wright State University - Main Campus

Endoplasmic Reticulum Stress Induces Axon Initial Segment Shortening In Cortical Neuron Culture, Jennae Shelby, Ryan B. Griggs, Josef Steinbrunner, Keiichiro Susuki

Medical Student Research Symposium Abstracts and Posters

The axon initial segment (AIS) is a domain located between the neuronal soma and axon responsible for action-potential initiation. Because even small changes in its length or location alter neuronal excitability and function, the AIS is a key structure for neurodegenerative pathophysiology. AIS shortening is seen in several neurodegenerative conditions such as traumatic brain injury, Alzheimer’s disease, neuropathic pain, multiple sclerosis, and diabetic encephalopathy. Diabetic encephalopathy refers to mild cognitive impairment or dementia often experienced in patients with type 2 diabetes. Although patients with type 2 diabetes are 1.73 times more likely to develop dementia, there is currently ...


Placental Hypoxia-Inducible Factor 1 Alpha In Early-Onset Preeclampsia As A Predictor Of Future Risk In Maternal And Fetal Health, Julie Slyby, Bryce Linkous, Sarah Scott, Chandni Chandiramani, Amy Hwang, Danielle Spanbauer, Melissa R. Kaufman, Traci Rackett, Kailey Nolan, Emily Stone, Rose A. Maxwell, David N. Dhanraj, Thomas L. Brown 2021 Wright State University - Main Campus

Placental Hypoxia-Inducible Factor 1 Alpha In Early-Onset Preeclampsia As A Predictor Of Future Risk In Maternal And Fetal Health, Julie Slyby, Bryce Linkous, Sarah Scott, Chandni Chandiramani, Amy Hwang, Danielle Spanbauer, Melissa R. Kaufman, Traci Rackett, Kailey Nolan, Emily Stone, Rose A. Maxwell, David N. Dhanraj, Thomas L. Brown

Medical Student Research Symposium Abstracts and Posters

Preeclampsia is a life-threatening, pregnancy-associated disorder characterized by the rapid development of hypertension with renal dysfunction. While preeclampsia generally occurs later in pregnancy, early-onset preeclampsia (EOPE) can occur much earlier and is usually more devastating. Early-onset preeclampsia is also associated with an increased risk of maternal cardiovascular and metabolic disease in mothers later in life and neurocognitive dysfunction in their offspring. EOPE is strongly associated with abnormal placental development and fetal growth restriction during pregnancy.


The Neurobiological Relationship Between Childhood Maltreatment And Major Depressive Disorder (Mdd), Morgan Clinton 2021 Pepperdine University

The Neurobiological Relationship Between Childhood Maltreatment And Major Depressive Disorder (Mdd), Morgan Clinton

Global Tides

Childhood maltreatment compromises healthy development, impacts neurobiology, and is associated with lasting alterations to emotional perception, processing, and regulation. Most significantly, childhood maltreatment increases the risk for later development of emotional disorders such as major depressive disorder (MDD). The stress associated with both childhood maltreatment and MDD can lead to lasting alterations to the fronto-limbic circuitry. Using functional and structural magnetic resonance imaging, researchers have observed hippocampal atrophy and amygdala hyperresponsiveness in participants who’ve experienced both childhood maltreatment and MDD. Furthermore, researchers have also observed increased connectivity between the hippocampus and amygdala in victims of childhood maltreatment. Because childhood ...


The Effects Of Stress On Latent Inhibition Of Rats, Kathryn Perlowitz, Mary Stebbins, Robert Hyer 2021 Susquehanna University

The Effects Of Stress On Latent Inhibition Of Rats, Kathryn Perlowitz, Mary Stebbins, Robert Hyer

Senior Scholars Day

No abstract provided.


Landmark-Guided T-Maze Learning In The Wolf Spider Tigrosa Helluo, Tiffany Guth 2021 Susquehanna University

Landmark-Guided T-Maze Learning In The Wolf Spider Tigrosa Helluo, Tiffany Guth

Senior Scholars Day

Wolf spiders can learn spatial navigation through simple maze tasks. It remains unclear if spatial learning is acquired through idiothetic information (i.e. self-referential movement cues) or if they use allothetic cues (e.g. external landmarks) to navigate. Spiders may also use specific types of landmarks to navigate known as reference frames. A reference frame is an environmental shape or boundary that provides a framework for spatial localization. Using a modified water T-maze, we recorded the ability of adult female Tigrosa helluo wolf spiders to correctly navigate toward a target reward. We measured variation in spatial learning of the target ...


Npy Expression Of Low-Birth Weight Offspring In Nutrient-Restricted Utero, Janine Levandowski, Holly Young 2021 Susquehanna University

Npy Expression Of Low-Birth Weight Offspring In Nutrient-Restricted Utero, Janine Levandowski, Holly Young

Senior Scholars Day

No abstract provided.


055— Ketogenic Diet And Dendritic Morphology In A Mouse Model Of Repetitive Behavior, Samantha Seeger, Yume Iriyama, Allison R. Bechard 2021 SUNY Geneseo

055— Ketogenic Diet And Dendritic Morphology In A Mouse Model Of Repetitive Behavior, Samantha Seeger, Yume Iriyama, Allison R. Bechard

GREAT Day

Repetitive motor behaviors are invariant movements with no apparent function. They are associated with several disorders, including autism spectrum disorders (ASD). However, little is known about the causes of these restricted behavior patterns, and effective treatments are lacking. ASD has recently been treated with a ketogenic diet (KD). Now a popular fad, KD is a high-fat, low-carb diet that has treated intractable epilepsy for decades. However, the mechanisms mediating KD’s beneficial effects are still unclear. We first show KD can attenuate repetitive circling behavior. We then assessed dendritic spine density in the left and right dorsolateral striatum as a ...


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