Nervous System Diseases Commons^™

Roche Restarts Redesigned Phase 3 Huntington’S Disease Trial, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Are Pre-Existing Conditions Returning, And Obamacare Ending?, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Recommendations For The Design Of Therapeutic Trials For Neonatal Seizures., Janet S. Soul, Ronit Pressler, Marilee Allen, Geraldine Boylan, Heike Rabe, Ron Portman, Pollyanna Hardy, Sarah Zohar, Klaus Romero, Brian Tseng, Varsha Bhatt-Mehta, Cecil Hahn, Scott Denne, Stephane Auvin, Alexander Vinks, John Lantos, Neil Marlow, Jonathan M. Davis, International Neonatal Consortium

Manuscripts, Articles, Book Chapters and Other Papers

Although seizures have a higher incidence in neonates than any other age group and are associated with significant mortality and neurodevelopmental disability, treatment is largely guided by physician preference and tradition, due to a lack of data from well-designed clinical trials. There is increasing interest in conducting trials of novel drugs to treat neonatal seizures, but the unique characteristics of this disorder and patient population require special consideration with regard to trial design. The Critical Path Institute formed a global working group of experts and key stakeholders from academia, the pharmaceutical industry, regulatory agencies, neonatal nurse associations, and patient advocacy …

The Association Between Herpes Simplex Virus Type 1 Reactivation And Alzheimer’S Disease, Andrew Allee

BIO 410 Spring 2019 Research Papers

This review will focus on the interaction of herpes simplex virus type 1 (HSV-1) and its causative role in pathogenesis of Alzheimer’s disease (AD) noting specifically, the epidemiological relevance of addressing this problem, as well as the molecular pathways associated. HSV-1 reactivation tends to be one of the primary causative events that is responsible for many of the pathologies associated with AD, such as: amyloid beta (Aβ) accumulation caused by malfunctioning cleavage of amyloid precursor protein (APP) as well as tau hyperphosphorylation. HSV-1 reactivation is a primary causative event in downstream dysfunction and is also shown to be directed by …

Delirium In Long Term Care Rehabilitation Residents: A Correlational Retrospective Study, Rebecca Lerma-Kjonegaard

Dissertations

Abstract Background: Delirium is associated with devastating outcomes, cognitive loss,

decreased function and an increase risk of mortality which affects patients and places a heavy burden on family and the healthcare system. The purpose of this study was to describe the relationship between select demographics, clinical characteristics, CHART- DEL-derived delirium diagnosis and ICD-10 coded discharge delirium diagnoses among Long Term Care (LTC) rehabilitation residents.

Method: A retrospective correlational design from174 LTC rehabilitation residents age 65 years or older using EMR and hard copy charts. The setting was a Southern California community hospital-based 100-bed LTC. Abstracted data included demographic characteristics (age, …

My Huntington’S Disease Sister – And A Hero Who Strives For The Unthinkable, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Investigating Neuroinflammation And Demyelination In The Nervous System Of Twitcher Mice By The Use Of Immunohistochemistry, Irene Wilson

Natural Sciences and Mathematics | Biological Sciences Master's Theses

Neuroinflammation and demyelination are the hallmark lesions of the Twitcher mouse—the model of Krabbe Disease. By analyzing hemibrains and sciatic nerves via immunohistochemistry, we supported the microglial hypothesis that early activation of microglial cells, macrophages, and globoid cells in the nervous system of Twitcher mice results in specific cellular polarization states that may contribute to myelin loss. The influx of activated macrophages seen in both the central and peripheral nervous systems at days 21 and 17, respectively, accounted for this polarization. Using selected M1 and M2 markers, YKL-40, and GPNMB and CD206, respectively, we proved that microglial cells and macrophages …

Assessment Of Motor Function, Motor Learning, & Olivary Climbing Fiber Distribution Within Developmental Hyperserotonemia Rat Model For Autism Spectrum Disorder, Elizabeth Diane Holland

Graduate Theses/Dissertations

While Autism Spectrum Disorder (ASD) is defined by deficits in social communication, compromised motor function and motor learning have been increasingly reported. Motor deficits could compound social impairment through delayed language acquisition, reduced opportunity for social interaction, and affected nonverbal communication. One area of interest in the investigation of motor dysfunction is the cerebellum, where altered cerebellar structure and connectivity have been reported in those diagnosed with ASD. Morphological and functional changes in cerebellar circuitry could disrupt motor skill development and may be associated with developmental alterations of the serotonergic system. Elevated blood serotonin in perinatal development, developmental hyperserotonemia (DHS), …

Vile Blood: Hereditary Degeneracy In Victorian England, Dalton Lee Brock

Theses and Dissertations from 2019

During the late 1800s, the people of England grew anxious about hereditary degeneracy. That anxiety was rooted in the medical literature of the Victorian period. Nature predetermined individuals to be either healthy or unhealthy. Unhealthy individuals were marked by degenerative mental or physical characteristics such as epilepsy. Medical professionals, including Henry Maudsley, emphasized reversion and its hereditary nature as a threat to individuals and society. All based their works and arguments on Charles Darwin’s idea of inheritance. Darwin, in turn, had adopted and modified Lamarckian inheritance to make up for the absence of an inheritance principle in his theory of …

Gigantic Stomach: A Rare Manifestation Of Duchenne Muscular Dystrophy, Amaninder Dhaliwal, Sarvani Madiraju, Banreet S. Dhindsa, Getaw W. Hassen, Fedja A. Rochling

School of Medicine Faculty Research

Duchenne muscular dystrophy (DMD) is characterized by degeneration and atrophy of skeletal, cardiac, and smooth muscles after a latent period of apparently normal development and function. The gastrointestinal manifestations start in the second decade of life and are mainly due to atrophy of smooth muscle layers. Refractory gastroparesis and chronic constipation can lead to severe gastric and small bowel dilatation, which can be life threatening. Here, we present a case of a 21-year-old male with a gigantic stomach secondary to DMD resolved with conservative management and no surgical intervention.

Investigating The Role Of Integrin Beta 3 In Dendritic Arborization In The Supragranular Developing Cerebral Cortex, Zachary Logan Holley

Senior Honors Projects, 2010-2019

Integrin subunits have been implicated in axonal and dendritic outgrowth. In particular, a strong positive association has been found between mutations in integrin beta 3 (Itgb3) and autism spectrum disorder, but little is known about neuronal Itgb3 function in vivo. Many forms of autism spectrum disorder are thought to arise from dysfunctional dendritic arborization and synaptic pruning. Global knockout of Itgb3 in mice leads to autistic-like behaviors. Itgb3^-/- mice also have reduced callosal volume, a key neuroanatomical correlate of autism. Here, we test the hypothesis that Itgb3 is required for normal dendritic arborization in layer II/III pyramidal …

‘Let’S Talk About Huntington’S Disease’: 2019 Hd Awareness Month Kicks Off, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Seeing Eye To Eye: A Machine Learning Approach To Automated Saccade Analysis, Maigh Attre

Honors Scholar Theses

Abnormal ocular motility is a common manifestation of many underlying pathologies particularly those that are neurological. Dynamics of saccades, when the eye rapidly changes its point of fixation, have been characterized for many neurological disorders including concussions, traumatic brain injuries (TBI), and Parkinson’s disease. However, widespread saccade analysis for diagnostic and research purposes requires the recognition of certain eye movement parameters. Key information such as velocity and duration must be determined from data based on a wide set of patients’ characteristics that may range in eye shapes and iris, hair and skin pigmentation [36]. Previous work on saccade analysis has …

An Integrative Approach To Mindfulness-Based Symptom Management For Myalgic Encephalomyelitis/Chronic Fatigue Syndrome, Lisa Barer

Mindfulness Studies Theses

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a chronic health condition; its etiology is poorly understood, and treatment options are limited to management of symptoms. Current recommended treatment options are controversial, and evidence of effectiveness is limited. This paper proposes a novel model for symptom management of ME/CFS using mindfulness-based interventions, cognitive behavioural therapy (CBT), and relaxation techniques. A comprehensive review of available evidence is used to support this approach. The idea is that, working synergistically, these three approaches, grounded by mindfulness-based principles, can address many of the symptoms of the illness and help patients better cope and manage their day-to-day …

Quantifying Expression Of Interneuron Subtype Markers For Dlx-2 Transfected Ng2 Cells, Timothy Nolan

Honors Scholar Theses

Neurons are a post-mitotic cell population, and therefore, they are not able to regenerate in vivo after a traumatic injury. Because inhibitory GABAergic interneurons and oligodendrocyte precursor cells (OPCs) are derived from the same precursor, recent studies have focused on transforming these OPCs into GABAergic neurons. However, there are different types of GABAergic interneurons that have different electrophysiological responses, which can lead to functional differences. The Nishiyama laboratory had already used a key gene in GABAergic interneuron and OPC differentiation, Distal-less homeobox 2 (Dlx-2), to transfect OPCs; early electrophysiology tests showed most of these transfected cells behaved like immature neurons, …

The 5-Ht1a-R Knockout Mouse As A Model Of Later Life Anxiety Disorders: Implications For Sex Differences, Tatyana Budylin

Dissertations, Theses, and Capstone Projects

Anxiety affects nearly twice as many women as it affects men across all cultures and economic groups. Importantly, girls have a higher chance of inheriting anxiety disorders than boys, and many anxiety disorders appear at a very young age. However, little is known about sex differences in brain and behavioral development and how they relate to anxiety in adulthood. Serotonin 1A receptor (5-HT_1A-R) mediated signaling has been implicated in depression and anxiety, however most studies that focus on the involvement of the 5-HT_1A-R have been conducted in adults. Little is known about how the 5-HT_{1A …}

Characterization Of Extracellular Vesicles From Human Diabetic Retinopathy Retinal Tissue In Vitro And From Urine Of Human Patients With Diabetic Retinopathy, Jason Mighty

Dissertations, Theses, and Capstone Projects

Diabetic Retinopathy (DR) is a neurovascular complication associated with diabetes mellitus that affects approximately 120 million people worldwide and its prevalence is expected to reach 190 million by 2030. DR diagnosis is accomplished with fundus ophthalmoscopy often when retinal damage and vision loss have already occurred. A group of biomarker being explored for early detection of diseases are extracellular vesicles (EVs), which are nanometer diameter lipid enclosed vesicles, released from all cell types and containing genetic cargo reflective of releasing cell state. EV biomarkers are currently being explored to help monitor disease predisposition, pathogenesis and response to treatment. While an …

Neuroblastoma In Adolescents And Children Older Than 10 Years: Unusual Clinicopathologic And Biologic Features, Laura Mccarthy, Katherine Chastain, Terrie Flatt, Eugenio Taboada, Robert E. Garola, John Herriges, Linda D. Cooley, Atif Ahmed

Posters

This poster describes four cases of neuroblastoma diagnosed since 2008 in children greater than 10 years and presents their clinical, histologic and biologic features, emphasizing unusual clinicopathologic characteristics and the role of DNA microarray analysis and Next Generation Sequencing in their management.

Comedian Rod Man’S Heartfelt Speech, Ramona Johnston's Death Remind Us Of Urgent Need To Cure Huntington's Disease, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Body Mass Index In Multiple Sclerosis Modulates Ceramide-Induced Dna Methylation And Disease Course, Kamilah Castro, Achilles Ntranos, Mario Amatruda, Maria Petracca, Peter Kosa, Emily Y. Chen, Johannes Morstein, Dirk Trauner, Corey T. Watson, Michael A. Kiebish, Bibiana Bielekova, Matilde Inglese, Ilana Katz Sand, Patricia Casaccia

Advanced Science Research Center

Background: Multiple Sclerosis (MS) results from genetic predisposition and environmental variables, including elevated Body Mass Index (BMI) in early life. This study addresses the effect of BMI on the epigenome of monocytes and disease course in MS.

Methods: Fifty-four therapy-naive Relapsing Remitting (RR) MS patients with high and normal BMI received clinical and MRI evaluation. Blood samples were immunophenotyped, and processed for unbiased plasma lipidomic profiling and genome-wide DNA methylation analysis of circulating monocytes. The main findings at baseline were validated in an independent cohort of 91 therapy-naïve RRMS patients. Disease course was evaluated by a two-year longitudinal follow up …