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Exploration Of Franklin D. Roosevelt's Paralytic Illness, Tara Malik 2016 Georgia State University

Exploration Of Franklin D. Roosevelt's Paralytic Illness, Tara Malik

Georgia State Undergraduate Research Conference

No abstract provided.


Gene Expression Profiling In An Alzheimer's Disease Mouse Model, Matthew R. Dalton 2016 Liberty University

Gene Expression Profiling In An Alzheimer's Disease Mouse Model, Matthew R. Dalton

Senior Honors Theses

Explaining precisely how Alzheimer’s disease (AD)—the world’s most common form of dementia—materializes in the human brain has proven to be one of the most elusive ends in modern medicine. Progressive memory loss, neurodegeneration, and the presence of abnormal protein aggregates of amyloid-beta (Aβ) and neurofibrillary tangles (NFT) characterize this disease. Genome sequencing provides researchers with the ability to better identify disease-related changes in gene expression, some of which may play a role in the initiation and progression toward the AD-like state. Intimate interactions between tissues have been observed in many diseases, particularly between the brain and ...


The Identification And Targeting Of Partially-Folded Conformations On The Folding Free-Energy Landscapes Of Als-Linked Proteins For Therapeutic Intervention: A Dissertation, Brian C. Mackness 2016 University of Massachusetts Medical School

The Identification And Targeting Of Partially-Folded Conformations On The Folding Free-Energy Landscapes Of Als-Linked Proteins For Therapeutic Intervention: A Dissertation, Brian C. Mackness

GSBS Dissertations and Theses

The hallmark feature of many neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), is the accumulation of cytoplasmic inclusions of key disease-linked proteins. Two of these proteins, TDP-43 and SOD1, represent a significant proportion of sporadic and familial ALS cases, respectively. The population of potentially aggregation-prone partially-folded states on the folding free-energy landscape may serve as a common mechanism for ALS pathogenesis. A detailed biophysical understanding of the folding and misfolding energy landscapes of TDP-43 and SOD1 can provide critical insights into the design of novel therapeutics to delay onset and progression in ALS.

Equilibrium unfolding studies on the RNA recognition ...


An Initial Analysis Of A Long-Term Ketogenic Diet’S Impact On Motor Behavior, Brain Purine Systems, And Nigral Dopamine Neurons In A New Genetic Rodent Model Of Parkinson’S Disease, Jacob Rubin, William H. Church 2016 Trinity College, Hartford Connecticut

An Initial Analysis Of A Long-Term Ketogenic Diet’S Impact On Motor Behavior, Brain Purine Systems, And Nigral Dopamine Neurons In A New Genetic Rodent Model Of Parkinson’S Disease, Jacob Rubin, William H. Church

Masters Theses

A growing body of research suggests that dopaminergic cell death seen in Parkinson’s disease is caused by mitochondrial dysfunction. Oxidative stress, with subsequent generation of reactive oxygen species, is the hallmark biochemical product of mitochondrial dysfunction. The ketogenic diet has been found to enhance mitochondrial energy production, protect against reactive oxygen species-generated cell death, and increase adenosine, a purine that modulates dopamine activity. The current study evaluates the effects of a long-term (5-month) ketogenic diet on behavioral, neurochemical, and neuroanatomical measures in PINK1-KO rats, a new animal model of Parkinson’s disease. Both wild-type and PINK1-KO animals fed a ...


Huntington's Disease--A Review, Christen Dunn 2016 Liberty University

Huntington's Disease--A Review, Christen Dunn

The Kabod

Huntington’s disease is degenerative and effects both cognitive and motor functioning, beginning in the 20s and continuing a decline for about two decades until death. In this disease, the huntingtin gene on chromosome four codes for an abnormally elongated repeating CAG polypeptide sequence. This mutation causes an atrophy in the brain that translates into decreasing control of movements and other aspects of cognition. To date, there is no cure for Huntington’s disease, but there are treatments for many symptoms that accompany the disease. Even still, there are promising new methods that may be more beneficial to patients in ...


Transgenic Drosophila For Investigating Dux4 And Frg1, Two Genes Associated With Facioscapulohumeral Muscular Dystrophy (Fshd), Takako I. Jones, Megan Parilla, Peter L. Jones 2016 University of Massachusetts Medical School

Transgenic Drosophila For Investigating Dux4 And Frg1, Two Genes Associated With Facioscapulohumeral Muscular Dystrophy (Fshd), Takako I. Jones, Megan Parilla, Peter L. Jones

Peter Jones Lab Publications

Facioscapulohumeral muscular dystrophy (FSHD) is typically an adult onset dominant myopathy. Epigenetic changes in the chromosome 4q35 region linked to both forms of FSHD lead to a relaxation of repression and increased somatic expression of DUX4-fl (DUX4-full length), the pathogenic alternative splicing isoform of the DUX4 gene. DUX4-fl encodes a transcription factor expressed in healthy testis and pluripotent stem cells; however, in FSHD, increased levels of DUX4-fl in myogenic cells lead to aberrant regulation of target genes. DUX4-fl has proven difficult to study in vivo; thus, little is known about its normal and pathogenic roles. The endogenous expression of DUX4-fl ...


Dyslexia And Language Impairment Associated Genetic Markers Influence Cortical Thickness And White Matter In Typically Developing Children, John D. Eicher, Jean A. Frazier, David N. Kennedy, Jeffrey R. Gruen, Pediatric Imaging Neurocognition Genetics Study 2016 Yale University

Dyslexia And Language Impairment Associated Genetic Markers Influence Cortical Thickness And White Matter In Typically Developing Children, John D. Eicher, Jean A. Frazier, David N. Kennedy, Jeffrey R. Gruen, Pediatric Imaging Neurocognition Genetics Study

University of Massachusetts Medical School Faculty Publications

Dyslexia and language impairment (LI) are complex traits with substantial genetic components. We recently completed an association scan of the DYX2 locus, where we observed associations of markers in DCDC2, KIAA0319, ACOT13, and FAM65B with reading-, language-, and IQ-related traits. Additionally, the effects of reading-associated DYX3 markers were recently characterized using structural neuroimaging techniques. Here, we assessed the neuroimaging implications of associated DYX2 and DYX3 markers, using cortical volume, cortical thickness, and fractional anisotropy. To accomplish this, we examined eight DYX2 and three DYX3 markers in 332 subjects in the Pediatrics Imaging Neurocognition Genetics study. Imaging-genetic associations were examined by ...


Risk Of Distal Embolization With Stent Retriever Thrombectomy And Adapt, Ju-Yu Chueh, Ajit S. Puri, Ajay K. Wakhloo, Matthew J. Gounis 2016 University of Massachusetts Medical School

Risk Of Distal Embolization With Stent Retriever Thrombectomy And Adapt, Ju-Yu Chueh, Ajit S. Puri, Ajay K. Wakhloo, Matthew J. Gounis

Radiology Publications and Presentations

BACKGROUND: There is a discrepancy in clinical outcomes and the achieved recanalization rates with stent retrievers in the endovascular treatment of ischemic stroke. It is our hypothesis that procedural release of embolic particulate may be one contributor to poor outcomes and is a modifiable risk. The goal of this study is to assess various treatment strategies that reduce the risk of distal emboli.

METHODS: Mechanical thrombectomy was simulated in a vascular phantom with collateral circulation. Hard fragment-prone clots (HFC) and soft elastic clots (SECs) were used to generate middle cerebral artery (MCA) occlusions that were retrieved by the Solitaire FR ...


Quantitative Assessment Of Device-Clot Interaction For Stent Retriever Thrombectomy, Kajo van der Marel, Ju-Yu Chueh, Olivia W. Brooks, Robert M. King, Miklos G. Marosfoi, Erin T. Langan, Sarena L. Carniato, Matthew J. Gounis, Raul G. Nogueira, Ajit S. Puri 2016 University of Massachusetts Medical School

Quantitative Assessment Of Device-Clot Interaction For Stent Retriever Thrombectomy, Kajo Van Der Marel, Ju-Yu Chueh, Olivia W. Brooks, Robert M. King, Miklos G. Marosfoi, Erin T. Langan, Sarena L. Carniato, Matthew J. Gounis, Raul G. Nogueira, Ajit S. Puri

Radiology Publications and Presentations

PURPOSE: Rapid revascularization in emergent large vessel occlusion with endovascular embolectomy has proven clinical benefit. We sought to measure device-clot interaction as a potential mechanism for efficient embolectomy.

METHODS: Two different radiopaque clot models were injected to create a middle cerebral artery occlusion in a patient-specific vascular phantom. A radiopaque stent retriever was deployed within the clot by unsheathing the device or a combination of unsheathing followed by pushing the device (n=8/group). High-resolution cone beam CT was performed immediately after device deployment and repeated after 5 min. An image processing pipeline was created to quantitatively evaluate the volume ...


Structural Basis For Mutation-Induced Destabilization Of Profilin 1 In Als, Sivakumar Boopathy, Tania Silvas, Maeve Tischbein, Silvia Jansen, Shivender Shandilya, Jill Zitzewitz, John Landers, Bruce Goode, Celia Schiffer, Daryl Bosco 2016 University of Massachusetts Medical School

Structural Basis For Mutation-Induced Destabilization Of Profilin 1 In Als, Sivakumar Boopathy, Tania Silvas, Maeve Tischbein, Silvia Jansen, Shivender Shandilya, Jill Zitzewitz, John Landers, Bruce Goode, Celia Schiffer, Daryl Bosco

Celia A. Schiffer

Mutations in profilin 1 (PFN1) are associated with amyotrophic lateral sclerosis (ALS); however, the pathological mechanism of PFN1 in this fatal disease is unknown. We demonstrate that ALS-linked mutations severely destabilize the native conformation of PFN1 in vitro and cause accelerated turnover of the PFN1 protein in cells. This mutation-induced destabilization can account for the high propensity of ALS-linked variants to aggregate and also provides rationale for their reported loss-of-function phenotypes in cell-based assays. The source of this destabilization is illuminated by the X-ray crystal structures of several PFN1 proteins, revealing an expanded cavity near the protein core of the ...


Homologous Transcription Factors Dux4 And Dux4c Associate With Cytoplasmic Proteins During Muscle Differentiation, Eugenie Ansseau, Jocelyn O. Eidahl, Celine Lancelot, Alexandra Tassin, Christel Matteotti, Cassandre Yip, Jian Liu, Baptiste Leroy, Celine Hubeau, Cecile Gerbaux, Samuel Cloet, Armelle Wauters, Sabrina Zorbo, Pierre Meyer, Isabelle Pirson, Dalila Laoudj-Chenivesse, Ruddy Wattiez, Scott Q. Harper, Alexandra Belayew, Frederique Coppee 2016 University of Mons

Homologous Transcription Factors Dux4 And Dux4c Associate With Cytoplasmic Proteins During Muscle Differentiation, Eugenie Ansseau, Jocelyn O. Eidahl, Celine Lancelot, Alexandra Tassin, Christel Matteotti, Cassandre Yip, Jian Liu, Baptiste Leroy, Celine Hubeau, Cecile Gerbaux, Samuel Cloet, Armelle Wauters, Sabrina Zorbo, Pierre Meyer, Isabelle Pirson, Dalila Laoudj-Chenivesse, Ruddy Wattiez, Scott Q. Harper, Alexandra Belayew, Frederique Coppee

Wellstone Center for FSHD Publications and Presentations

Hundreds of double homeobox (DUX) genes map within 3.3-kb repeated elements dispersed in the human genome and encode DNA-binding proteins. Among these, we identified DUX4, a potent transcription factor that causes facioscapulohumeral muscular dystrophy (FSHD). In the present study, we performed yeast two-hybrid screens and protein co-purifications with HaloTag-DUX fusions or GST-DUX4 pull-down to identify protein partners of DUX4, DUX4c (which is identical to DUX4 except for the end of the carboxyl terminal domain) and DUX1 (which is limited to the double homeodomain). Unexpectedly, we identified and validated (by co-immunoprecipitation, GST pull-down, co-immunofluorescence and in situ Proximal Ligation Assay ...


Developing An Adeno-Associated Viral Vector (Aav) Toolbox For Cns Gene Therapy: A Dissertation, Sourav Roy Choudhury 2016 University of Massachusetts Medical School

Developing An Adeno-Associated Viral Vector (Aav) Toolbox For Cns Gene Therapy: A Dissertation, Sourav Roy Choudhury

GSBS Dissertations and Theses

Neurological disorders – disorders of the brain, spine and associated nerves – are a leading contributor to global disease burden with a sizable economic cost. Adeno-associated viral (AAV) vectors have emerged as an effective platform for CNS gene therapy and have shown early promise in clinical trials. These trials involve direct infusion into brain parenchyma, an approach that may be suboptimal for treatment of neurodegenerative disorders, which often involve more than a single structure in the CNS. However, overall neuronal transduction efficiency of vectors derived from naturally occurring AAV capsids after systemic administration is relatively low. We have developed novel capsids AAV-AS ...


Clinical Expression Of Facioscapulohumeral Muscular Dystrophy In Carriers Of 1-3 D4z4 Reduced Alleles: Experience Of The Fshd Italian National Registry, Ana Nikolic, Rossella Tupler 2016 University of Modena and Reggio Emilia

Clinical Expression Of Facioscapulohumeral Muscular Dystrophy In Carriers Of 1-3 D4z4 Reduced Alleles: Experience Of The Fshd Italian National Registry, Ana Nikolic, Rossella Tupler

Molecular, Cell and Cancer Biology Publications

OBJECTIVES: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers (≤8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra-muscular features, have been associated with the shortest D4Z4 reduced alleles with 1-3 repeats (1-3 DRA). We searched for signs of perinatal onset and evaluated disease outcome through the systematic collection of clinical and anamnestic records of de novo and familial index cases and their relatives, carrying 1-3 DRA.

SETTING: Italy.

PARTICIPANTS: 66 index cases and 33 relatives carrying 1-3 DRA.

OUTCOMES: The clinical examination was performed ...


Perceptions And Attitudes Of A Sample Of Primary Care Patients Receiving Psychological Care From Their Pcp, Nadine Henzes Gowarty 2016 Philadelphia College of Osteopathic Medicine

Perceptions And Attitudes Of A Sample Of Primary Care Patients Receiving Psychological Care From Their Pcp, Nadine Henzes Gowarty

PCOM Psychology Dissertations

With millions of Americans suffering from a mental health disorder and slightly more than half receiving treatment, the demand for psychological services far outweighs the number of practitioners available to provide direct care. Therefore, the majority of all primary-care visits are based on psychosocial factors; one third of a PCP’s caseloads consist of patients with mental-health problems. Given the fact that PCPs provide comprehensive psychosocial care, it is important to determine the beliefs and perceptions of their patients. Results from this study identified numerous factors that influence the relationship between patients receiving mental health care from their PCP. Specifically ...


An Individual With Human Immunodeficiency Virus, Dementia, And Central Nervous System Amyloid Deposition, Raymond Scott Turner, Melanie Chadwick, Wesley A Horton, Gary L. Simon, Xiong Jiang, Giuseppe Esposito 2016 George Washington University

An Individual With Human Immunodeficiency Virus, Dementia, And Central Nervous System Amyloid Deposition, Raymond Scott Turner, Melanie Chadwick, Wesley A Horton, Gary L. Simon, Xiong Jiang, Giuseppe Esposito

Medicine Faculty Publications

Human immunodeficiency virus (HIV)-associated neurocognitive disorder (HAND) is found in 30%-50% of individuals with HIV infection. To date, no HIV+ individual has been reported to have a positive amyloid PET scan. We report a 71-year-old HIV+ individual with HAND. Clinical and neuropsychologic evaluations confirmed a progressive mild dementia. A routine brain MRI was normal for age. [18F]Fluorodeoxyglucose-PET revealed mild hypermetabolism in bilateral basal ganglia and hypometabolism of bilateral parietal cortex including the posterior cingulate/precuneus. Resting state functional MRI revealed altered connectivity as found with individuals with mild AD. CSF examination revealed a low Aβ42/tau index ...


Global Cognition, Executive Function, And Metacognition In A Stroke Population, Mona Al Banna 2016 Royal College of Surgeons in Ireland

Global Cognition, Executive Function, And Metacognition In A Stroke Population, Mona Al Banna

MSc by research theses

Post-stroke cognitive impairment is associated with poor long-term outcomes and increased functional dependency. The overall study aim was to explore the relationships between global cognition, executive function and metacognition in a stroke population, to examine correlates and potential predictors of cognitive impairment and to determine the relationship between cognitive impairment and stroke in a Bahraini stroke sample in comparison to an age- and sex- matched control group. A sample of 130 stroke patients (case group) were recruited from the largest medical complex in Bahrain and 55 control participants from the non-stroke general population were recruited from two primary local health ...


Cyclophosphamide For Suspected Primary Angiitis Of The Central Nervous System In A Patient With Human Immunodeficiency Virus: A Case Report, Martha M. Rumore, Samantha Su, Jake Pellinen 2016 Touro College of Pharmacy

Cyclophosphamide For Suspected Primary Angiitis Of The Central Nervous System In A Patient With Human Immunodeficiency Virus: A Case Report, Martha M. Rumore, Samantha Su, Jake Pellinen

Touro College of Pharmacy (New York) Publications and Research

Introduction: Central nervous system (CNS) vasculitis is rare, including in human immunodeficiency virus (HIV), occurring in less than 1% of patients. Systemic vasculitis affecting the CNS is termed secondary CNS vasculitis, whereas primary CNS vasculitis, referred to as primary angiitis of the CNS (PACNS) refers to an extremely rare disease specifically confined to the CNS. Only some cases of PACNS in HIV patients have been reported in literature.

Case Report: We report a case of a 46-year-old female with HIV who developed probable primary CNS vasculitis, which was treated with intravenous cyclophosphamide and glucocorticoids for both induction and maintenance. A ...


Time Of Day And Performance On Cognitive Tests In Patients With Mild Dementia, Upinder Singh, Mandeep Gill, Rebecca Rice, Fallon Dimaano, Andrea Warburton, Michael R. Wells 2016 Touro University Nevada

Time Of Day And Performance On Cognitive Tests In Patients With Mild Dementia, Upinder Singh, Mandeep Gill, Rebecca Rice, Fallon Dimaano, Andrea Warburton, Michael R. Wells

College of Osteopathic Medicine (TUN) Publications and Research

Background

Cognitive screening for elderly patients with mild dementia is typically conducted in the morning under the impression that testing at this time will optimize performance and cooperation of patients. This study was conducted to determine if the time of day in which several cognitive screening tests would be normally given could significantly affect test performance in patients with mild dementia and normal control subjects.

Methods

Fifty nursing home residents with mild to moderate dementia and twenty normal control subjects were given three commonly used cognitive tests in two separate sessions (morning and afternoon) with a two week interval between ...


Post-Tbi Hippocampal Neurogenesis In Different Tbi Models, Kaushal S. Patel 2016 Virginia Commonwealth University

Post-Tbi Hippocampal Neurogenesis In Different Tbi Models, Kaushal S. Patel

Theses and Dissertations

Traumatic brain injury (TBI) leads to short-term and long-term consequences that can cause many different life-long disorders. Studies of TBI have generally focused on the acute stage; however, it is now becoming important to investigate chronic responses following TBI as clinical reports of dementia and cognitive impairments have been linked to a history of TBI. Recent data have established that cognitive function is associated with hippocampal neurogenesis. Chronic injury induced changes in the brain may affect this endogenous process. Chronic responses following TBI include cell death pathways and inflammatory responses that are persistent in the brain for months to years ...


Marijuana Compounds: A Nonconventional Approach To Parkinson’S Disease Therapy, Mariana Babayeva, Haregewein Assefa, Paramita Basu, Sanjeda Chumki, Zvi G. Loewy 2016 Touro College of Pharmacy

Marijuana Compounds: A Nonconventional Approach To Parkinson’S Disease Therapy, Mariana Babayeva, Haregewein Assefa, Paramita Basu, Sanjeda Chumki, Zvi G. Loewy

Touro College of Pharmacy (New York) Publications and Research

Parkinson’s disease (PD), a neurodegenerative disorder, is the second most common neurological illness in United States. Neurologically, it is characterized by the selective degeneration of a unique population of cells, the nigrostriatal dopamine neurons. The current treatment is symptomatic and mainly involves replacement of dopamine deficiency.This therapy improves only motor symptoms of Parkinson’s disease and is associated with a number of adverse effects including dyskinesia. Therefore, there is unmet need for more comprehensive approach in the management of PD. Cannabis and related compounds have created significant research interest as a promising therapy in neurodegenerative and movement disorders ...


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