Nervous System Diseases Commons^™

Failure To Thrive - An Overlooked Manifestation Of Kmt2b-Related Dystonia: A Case Presentation., Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose N. Gelineau-Morel, Shimul Chowdhury, Rady Children’S Institute For Genomic Medicine Investigators, Jennifer Friedman

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene.

CASE PRESENTATION: We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the …

Supplementary Material To The Manuscript Titled: Mobile Phone Sensors Can Discern Medication-Related Gait Quality Changes In Parkinson's Patients In A Real-World Setting, Niklas König Ignasiak, Albert Pierce, Vincent Berardi, Wilford K. Eiteman-Pang, Cyril Rakovski

Physical Therapy Faculty Data Sets

This file contains the data that was used to classify high and low quality gait patterns in patients with Parkinson's disease. Acceleration and gyroscope data was recorded with a conventional smartphone in a real-world environment. High (i.e. ON medication) and low (i.e. OFF medication) quality labels were given by a human observer according to medication intake times.

Kcnq2 Localization In The Brainstem, Christina Valera

Honors Scholar Theses

KCNQ2 channels are potassium channels that serve to control neuronal excitability. Loss of function mutations in these channels are known to cause various forms of epilepsy. Recently, KCNQ2 R201C and R201H gain of function mutations have been shown to exhibit an exaggerated startle response and other unique phenotypes uncharacteristic of epilepsy. These phenotypes resemble hyperekplexia, a condition in which glycine neurotransmission in the spinal cord and brainstem is affected. While KCNQ2 has widespread localization throughout the brain, its presence in the brainstem remains unknown. We used immunostaining to determine the localization of KCNQ2 in the vagus nerve and hypoglossal nerve …

In The Pandemic, We Need To Rediscover Patience And Grasp Our Responsibility, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Assessing The Effect Of Chronic Dopamine Receptor 2 Blockade As A Potential Model Of Secondary Negative Symptoms In Rats Using The Fr5/Chow Feeding Choice Task, Cyrene Nicholas

Honors Scholar Theses

Haloperidol, a dopamine (DA) D2 receptor antagonist, is an antipsychotic drug which is commonly used to treat schizophrenia and other psychiatric disorders. These disorders are often characterized by elevated striatal dopamine, which is speculated to have a role in producing positive symptoms such as hallucinations, delusions, and paranoia, as well as symptoms related to motivational salience and reward prediction. Individuals with schizophrenia also exhibit negative symptoms, such as amotivation, anergia, fatigue, and apathy among others. While some negative symptoms of schizophrenia are inherent to the pathophysiology, other negative symptoms are hypothesized to be partially induced by chronic exposure to antipsychotic …

The Partial Immersion Aquatic Approach Using Adjustable Weight Bearing To Improve Posture And Sitting Balance Adaptation For Children With Severe Cerebral Palsy, Niv Shelef

International Journal of Aquatic Research and Education

The innovative ‟Partial Immersion” Aquatic Therapy Approach was developed to enhance balance and posture during sitting adaptation for children with severe cerebral palsy who exhibit deficiency in those skills on land. Stable balance during sitting posture is one of the preconditions for hands function in activities of daily living. Aquatic skills learned during aquatic therapy were then transferred to a land environment. Therapy included the use of a treatment chair that enabled adjustable weight bearing in a series of 30 mm steps. A mixed-methods design employing a multiple case study approach (n=5) including quantitative and qualitative methods investigated the effectiveness …

Characterization Of Novel Animal Models For Parkinson’S Disease, Mohannad Almikhlafi

Theses & Dissertations

Parkinson’s disease (PD) is neurodegenerative disorder characterized by dopaminergic neuronal loss in the substantia nigra (SN) pars compacta. Mutations in DJ-1, PINK1 and Parkin lead to PD in humans; however, in mice, mutations or knockout of these genes do not lead to disease. Development of small animal models mimicking PD pathogenesis would enable better understanding of the disease. Here, we examined two approaches using laboratory rats. First, DJ-1 knockout rats have been reported to develop movement disorders and loss of neurons similar to human PD. Comprehensive analysis of mitochondrial proteomic alteration in isolated synaptic mitochondria from DJ-1 knockout rats using …

Pilot Study Exploring The Effect Of Targeted Cox-2 Inhibition In Macrophages Responding To Neuronal Injury; Promoting Enhanced Axonal Regeneration, Alyssa Brauckmann

Electronic Theses and Dissertations

Celecoxib nanoemulsion (CXB-NE) has been developed as a macrophage targeted analgesics by Dr. Janjic and her team at Duquesne University, (Janjic et al, 2018; Liu et al, 2020; Saleem et al, 2019b; Vasudeva et al, 2014). The CXB-NE nanoemulsion carrying a Nonsteroidal Anti-inflammatory (NSAID) inhibitor of COX-2 activity result in a reduction in PGE2 expression in macrophages. Using CXB-NE in rats that have peripheral nerve injury constricting the sciatic nerve relieves hypersensitivity, a pain-like behavior. The treatment also decreases inflammation associated with this chronic constriction injury (Janjic et al, 2018; Saleem et al, 2019b; Stevens et al, 2019). In this …

The Current Neuroscientific Understanding Of Alzheimer's Disease, Rachel A. Brandes

Pursuit - The Journal of Undergraduate Research at The University of Tennessee

Alzheimer’s disease is a degenerative neurological illness characterized by the deterioration of brain regions implicated in memory and cognitive function. While researchers have yet to find a cure or effective treatment, they have gained a better understanding of its pathology and development. Through years of neuroscience research, scientists have discovered much of what happens in the brain during Alzheimer’s disease onset and how this causes its symptoms; many hypotheses regarding this aspect of the illness involve temporal lobe atrophy, neurofibrillary tangles, and amyloid plaques. Although Alzheimer’s disease affects millions of people every day, it seems that most are unaware of …

An Atypical Presentation Of Neuroleptic Malignant Syndrome, Rudy Forte, Shiwani Kamath, Debra Angelo, Johnathan Frunzi

West Florida Division GME Research Day 2020

Neuroleptic Malignant Syndrome (NMS) is a rare, but potentially life threatening condition associated with dopamine blockade, particularly first-generation antipsychotics. The complex pathophysiology of NMS remains somewhat unclear and debatable as the symptoms are not fully explained by dopamine blockade alone.¹ D2 dopamine receptor antagonism remains responsible for most cases of NMS, however a few cases have been reported in which little to no D2 blockade activity was present.¹

This poster is about an atypical presentation of NMS.

Levels Of Parp1-Immunoreactivity In The Human Brain In Major Depressive Disorder, Aamir Shaikh

Undergraduate Honors Theses

MDD is a severe and debilitating disorder that is associated with a growing global economic burden due to reduced workplace productivity along with increased healthcare resource utilization. Furthermore, depression markedly enhances the risk for suicide, mortality that is especially worrisome given that 30% of depressed individuals have an inadequate response to current antidepressants. This inadequacy of antidepressants necessitates the discovery of a better understanding of the pathobiology of MDD. Most current antidepressants work through monoamine neurotransmitters, and their relative efficacy in depression led to the now dated monoamine-deficiency hypothesis. The limited usefulness of antidepressants has led to a reinvigorated search …

New Onset Psychosis Secondary To Neurosyphilis, Samantha Linda Jane Vu, Lauren Angela Demarco, Francis Butler, Nihal Shah

West Florida Division GME Research Day 2020

Syphilis is a highly contagious sexually transmitted infection (STI) caused by the spirochetal bacterium Treponema pallidum. Transmission occurs through direct contact of painless ulcerative lesions, chancres, located on the genitalia (penis, labia) and oral mucosa. Neurosyphilis is any involvement of the central nervous systems (brain, meninges, or spinal cord) by the bacterium.

Functional Analysis Of A Critical Glycine (Glycine 12) In Beta-Type Connexins Of Human Skin, Rasheed Bailey

Biology Theses

At least five beta-type connexins are expressed in various layers of the skin (Cx26, Cx30, Cx30.3, Cx31, and Cx32) and all include a glycine residue at position 12. Glycine12 (G12) is located about halfway through the cytoplasmic amino terminus and has been the focus of several studies related to connexin diseases and gap junction channel structure. The importance of this residue is evident in the severity and diversity of diseases associated with amino acid substitutions at G12 including hereditary forms of skin disease, deafness and neuropathy. This study uses bioinformatic analysis in combination with mutational analysis and electrophysiology to better …

Evaluation Of Clinical Outcomes Of 4-Factor Prothrombin Complex Concentrate Versus Andexanet Alfa In The Treatment Of Intracerebral Hemorrhage, Eduardo Guizan Corrales, Radhan Gopalani, Heidi Clarke, Jonatha Kline, Felipe De Los Rios La Rosa, Thomas Wolfel

All Publications

Purpose: Oral anticoagulants account for up to 20% of intracerebral hemorrhages (ICH) with one-year mortality estimated as high as 54%. Several studies have examined the use of 4-Factor prothrombin complex concentrate (4F-PCC) and andexanet alfa in the treatment of factor Xa associated ICH. High cost burden, lack of clinical outcomes, and risk of thromboembolic events continues to be a major dilemma behind product selection at many healthcare systems. The purpose of this project is to compare clinical outcomes between 4F-PCC and andexanet alfa in the management of patients with ICH secondary to apixaban and rivaroxaban at Baptist Hospital of Miami …

Optical Clearing Reveals Tnbs-Induced Morphological Changes Of Vglut2-Positive Nerve Endings In The Colorectum, Shivam Patel

Honors Scholar Theses

Sensitization of colorectal afferents and colorectal hypersensitivity have been observed in a mouse model of post-infectious irritable bowel syndrome via intracolonic treatment of 2,4,6-trinitrobenzenesulfonic acid (TNBS). In this study, we investigated the distribution and morphology of microscopic colorectal afferent endings before and after intracolonic treatment of TNBS. We genetically labeled predominantly extrinsic colorectal afferents using the vesicular glutamate transporter type 2 (VGLUT2) promoter. Then, we used an optical tissue clearing method of whole-mount colorectum to image labeled VGLUT2-nerve endings that are otherwise obscured in untreated samples. We used vector path tracing to quantify the density and degree of curliness of …

Combatting The Pandemic, Roche Also Forges Ahead With Critical Phase 3 Huntington's Disease Clinical Trial, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Enhancing Engagement In Older Adults With Alzheimer's Disease At A Reminiscencce Therapy Adult Day Center, Kendra C. Gillio

Student Capstone Papers

Alzheimer’s disease is a degenerative form of dementia, which can impair an individual’s executive functioning, orientation, and memory; ultimately leading to mood and behavior changes (Alzate, 2018). Alzheimer’s disease is the most common form of dementia, affecting approximately 60% to 70% of the older adult population aged 65 and older (Santos da Silva, de Oliveira Alves, Barros Leite Slagueiro & Bezerra Barbosa, 2018). Currently, the number of individuals with dementia is estimated at approximately 50 million people worldwide and is expected to climb to 152 million people by the year 2050 (Rathbone, et. al, 2019). Damage to the brain develops …

Valbenazine Has A Small But Meaningful Benefit For Tardive Dyskinesia, Joseph Friedli, Ryan Quick, Reem Sobh, Samantha Cowing

Clinical Research in Practice: The Journal of Team Hippocrates

A critical appraisal and clinical application of

Hauser RA, Factor SA, Marder SR, et al. KINECT 3: A Phase 3 Randomized, Double-Blind, Placebo-Controlled Trial of Valbenazine for Tardive Dyskinesia. Am J Psychiatry. 2017;174(5):476-484. https://doi.org/10.1176/appi.ajp.2017.16091037

and

Factor SA, Remington G, Comella CL, et al. The Effects of Valbenazine in Participants with Tardive Dyskinesia: Results of the 1-Year KINECT 3 Extension Study. J Clin Psychiatry. 2017;78(9):1344-1350. https://doi.org/10.4088/JCP.17m11777

exploring the efficacy of a newer therapy for tardive dyskinesia, and describing recommendations for a patient with acute medical problems and longstanding tardive dyskinesia.

Anxiety In Alzheimer's Disease, Zachary Cooper

Senior Honors Theses

Researchers familiar with Alzheimer’s disease have often noted the presence of comorbid anxiety symptomatology. Likewise, the occurrence of anxiety before the development of Alzheimer’s disease has been prevalent enough to warrant attention. This review seeks to elaborate on the pathophysiology behind these two conditions, and to accentuate overlapping aspects that promote a causal relationship between these two pathologies on the macroscopic and cellular levels. Subsequent evidence will show that these pathologies are not independent of each other, and that cellular mechanisms of pathology hint at their interrelatedness. Areas requiring further research that would clarify the relationship between Clinical Anxiety and …

The Role Of Diet In The Onset Of Depression: A Biochemical Connection Between Nutrition And Mental Health, Katlin Wildeman

Senior Honors Theses

Depression is a major clinical concern, having a complex onset and the presence of multiple, often unidentifiable causes. Depression affects millions of individuals worldwide, with a high prevalence in regions of the world with a Western-style diet as compared to regions with a Mediterranean diet. A Western-style diet consists of foods high in sugar, fat, and processed meats and grains, whereas the Mediterranean diet contains significantly more vegetables, fruits, lean meats, and whole grains. The link between diet and mental health disorders has implications for individuals of all ages who are hesitant to turn to medication. In addition to presenting …