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Kcnq2 Encephalopathy, John Millichap, Kristen Park, Tammy N. Tsuchida, Bruria Ben-Zeev, Lionel Carmant, On Behalf of the RIKEE Consortium 2016 George Washington University

Kcnq2 Encephalopathy, John Millichap, Kristen Park, Tammy N. Tsuchida, Bruria Ben-Zeev, Lionel Carmant, On Behalf Of The Rikee Consortium

Neurology Faculty Publications

Objective: To advance the understanding of KCNQ2 encephalopathy genotype–phenotype relationships and to begin to assess the potential of selective KCNQ channel openers as targeted treatments.

Methods: We retrospectively studied 23 patients with KCNQ2 encephalopathy, including 11 treated with ezogabine (EZO). We analyzed the genotype–phenotype relationships in these and 70 previously described patients.

Results: The mean seizure onset age was 1.8 ± 1.6 (SD) days. Of the 20 EEGs obtained within a week of birth, 11 showed burst suppression. When new seizure types appeared in infancy (15 patients), the most common were epileptic spasms (n = 8). At last ...


The Postfinasteride Syndrome; An Overview, David L. Rowland, Ion G. Motofei, Florian Popa, Vlad D. Constantin, Adriana Vasilache, Ioana Păunică, Cristian Bălălău, Georgeta P. Păunică, Petrisor Banu, Stana Păunică 2016 Valparaiso University, Department of Psychology

The Postfinasteride Syndrome; An Overview, David L. Rowland, Ion G. Motofei, Florian Popa, Vlad D. Constantin, Adriana Vasilache, Ioana Păunică, Cristian Bălălău, Georgeta P. Păunică, Petrisor Banu, Stana Păunică

Journal of Mind and Medical Sciences

As a 5-α reductase inhibitor, Finasteride has proven effective in ameliorating two conditions documented to be androgen dependent, namely male androgenic alopecia and benign prostatic hyperplasia. Therapeutic results are maintained as long as the drug is administered, with treatment cessation generally leading to the return of symptomatology for each condition. In addition, during the therapeutic phase, several adverse effects have been reported, some of which persist long or indefinitely after treatment cessation, known as “post-finasteride syndrome.”

Herein we present and discuss the most common finasteride side effects, along with a psycho-neuroendocrine rationale that could explain the persistence of many adverse ...


B Cells Populating The Multiple Sclerosis Brain Mature In The Draining Cervical Lymph Nodes, J. N. Stern, G. Yaari, J. A. Vander Heiden, G. Church, W. F. Donahue, R. Q. Hintzen, A. J. Huttner, J. D. Laman, R. M. Nagra, K. C. O’Connor 2016 Hofstra Northwell School of Medicine

B Cells Populating The Multiple Sclerosis Brain Mature In The Draining Cervical Lymph Nodes, J. N. Stern, G. Yaari, J. A. Vander Heiden, G. Church, W. F. Donahue, R. Q. Hintzen, A. J. Huttner, J. D. Laman, R. M. Nagra, K. C. O’Connor

Joel Stern

Multiple sclerosis (MS) is an inflammatory disease of the central nervous system (CNS) characterized by autoimmune-mediated demyelination and neurodegeneration. The CNS of patients with MS harbors expanded clones of antigen-experienced B cells that reside in distinct compartments including the meninges, cerebrospinal fluid (CSF), and parenchyma. It is not understood whether this immune infiltrate initiates its development in the CNS or in peripheral tissues. B cells in the CSF can exchange with those in peripheral blood, implying that CNS B cells may have access to lymphoid tissue that may be the specific compartment(s) in which CNS-resident B cells encounter antigen ...


Is Online Motor Control Really Impaired In Parkinson's Disease?, Kate E. Merritt 2016 The University of Western Ontario

Is Online Motor Control Really Impaired In Parkinson's Disease?, Kate E. Merritt

Electronic Thesis and Dissertation Repository

Patients with Parkinson’s disease (PD) are thought to be selectively impaired in consciously-mediated online automatic motor control, whereas the ability to perform subconscious online adjustments remains intact. This present study evaluates the hypothesis that the previously alleged deficits in online motor control in PD are not due to the consciousness of the correction, but rather are attributable to aspects of the prior experimental designs disproportionately penalizing patients for PD-related bradykinesia. Here, we implemented a modified traditional double-step paradigm to investigate consciously-mediated online motor control in PD, in a manner that would be unconfounded by disease-related bradykinesia. Further, we investigated ...


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 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

Jean A. Frazier

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 ...


Characterization And Personalization Of Botulinum Toxin Type A Therapy For Upper Limb Tremor In Parkinson Disease And Essential Tremor Patients Using Multi-Sensor Kinematic Technology, Olivia Samotus 2016 The University of Western Ontario

Characterization And Personalization Of Botulinum Toxin Type A Therapy For Upper Limb Tremor In Parkinson Disease And Essential Tremor Patients Using Multi-Sensor Kinematic Technology, Olivia Samotus

Electronic Thesis and Dissertation Repository

Tremor commonly affects the upper extremities in essential tremor (ET) and Parkinson disease (PD) patients where many experience functional disability and ultimately seek therapy. As ET and PD tremor features overlap and clinical assessment is challenging due to its highly complex nature, misdiagnosis is common resulting in unsuitable therapies and prognosis. Current treatment options for ET and PD tremor include pharmacotherapy, focal therapy with botulinum toxin type A (BoNT-A) injections, and surgical interventions which provide modest relief of tremor. However, such therapies are commonly associated with significant adverse events and lack long-term efficacy and tolerability. Hence lack of standardized, objective ...


Therapeutic Raavrh10 Mediated Sod1 Silencing In Adult Sod1(G93a) Mice And Nonhuman Primates, Florie Borel, Gwladys Gernoux, Brynn Cardozo, Jake P. Metterville, Gabriela Toro Cabrera, Lina Song, Qin Su, Guang Ping Gao, Mai K. Elmallah, Robert H. Brown Jr., Christian Mueller 2016 University of Massachusetts Medical School

Therapeutic Raavrh10 Mediated Sod1 Silencing In Adult Sod1(G93a) Mice And Nonhuman Primates, Florie Borel, Gwladys Gernoux, Brynn Cardozo, Jake P. Metterville, Gabriela Toro Cabrera, Lina Song, Qin Su, Guang Ping Gao, Mai K. Elmallah, Robert H. Brown Jr., Christian Mueller

Christian Mueller

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease; survival in ALS is typically 3-5 years. No treatment extends patient survival by more than three months. Approximately 20% of familial ALS and 1-3% of sporadic ALS patients carry a mutation in the gene encoding superoxide dismutase 1 (SOD1). In a transgenic ALS mouse model expressing the mutant SOD1(G93A) protein, silencing the SOD1 gene prolongs survival. One study reports a therapeutic effect of silencing the SOD1 gene in systemically treated adult ALS mice; this was achieved with a short hairpin RNA, a silencing molecule that has raised multiple safety concerns ...


Guillain-Barre Syndrome, Tyler B. Skelton 2016 Otterbein University

Guillain-Barre Syndrome, Tyler B. Skelton

Master of Science in Nursing (MSN) Student Scholarship

Guillain-Barre Syndrome consists of a group of neuropathic conditions characterized by progressive weakness and diminished or absent myotatic reflexes. The estimated annual incidence in the United States is 1.65 to1.79 per 100,000 persons (Walling & Dickson, 2013). Understanding how this condition progresses and the affects it has on a patient will assistant in providing optimal patient care as a future nurse anesthetist. As stated by Turakhia, P., Barrick, B., and Berman, J. (2013) “the anesthetic implications for the various comorbidities are varied and can be profound” (p.1). An individual who suffers from Guillain-Barre is a patient who ...


Glial Cell Involvement In Early Alzheimer's Disease, Rachel Y. De La Torre 2016 Portland State University

Glial Cell Involvement In Early Alzheimer's Disease, Rachel Y. De La Torre

PSU McNair Scholars Online Journal

Glial cells, the resident immune cells of the brain, are important for brain health as they represent a critical function both in brain injury as well as in brain development and maintenance. Following brain injury, glia quickly respond by cleaning up neuronal and synaptic debris. In addition to their role as the cleaning cell of the brain, recent research has shown that during development, glia also shape and fine-tune neural connections by eliminating weak synapses fated for removal. However, whether glial cells also continue to remodel synaptic architecture in the adult brain is unclear. Moreover, synaptic pruning and loss are ...


Phase Iii Preclinical Trials In Translational Stroke Research: Community Response On Framework And Guidelines, Johannes Boltze, Daniel-Christoph Wagner, Nils Henninger, Nikolaus Plesnila, Cenk Ayata 2016 University of Lubeck

Phase Iii Preclinical Trials In Translational Stroke Research: Community Response On Framework And Guidelines, Johannes Boltze, Daniel-Christoph Wagner, Nils Henninger, Nikolaus Plesnila, Cenk Ayata

Neurology Publications and Presentations

The multicenter phase III preclinical trial concept is currently discussed to enhance the predictive value of preclinical stroke research. After public announcement, we collected a community feedback on the concept with emphasis on potential design features and guidelines by an anonymous survey. Response analysis was conducted after plausibility checks by applying qualitative and quantitative measures. Most respondents supported the concept, including the implementation of a centralized steering committee. Based on received feedback, we suggest careful, stepwise implementation and to leave selected competencies and endpoint analysis at the discretion of participating centers. Strict application of quality assurance methods is accepted, but ...


Visions Of Living With Parkinson's Disease: A Photovoice Study, Danice Greer, Cheryl Cooper, Melinda Hermanns 2016 The University of Texas at Tyler

Visions Of Living With Parkinson's Disease: A Photovoice Study, Danice Greer, Cheryl Cooper, Melinda Hermanns

Danice Greer

This poster was presented at the May 2014 UT Tyler Faculty Awards.


Visions Of Living With Parkinson's Disease: A Photovoice Study, Danice Greer, Cheryl Cooper, Melinda Hermanns 2016 The University of Texas at Tyler

Visions Of Living With Parkinson's Disease: A Photovoice Study, Danice Greer, Cheryl Cooper, Melinda Hermanns

Cheryl Cooper

This poster was presented at the May 2014 UT Tyler Faculty Awards.


Activation Of Target Gene Expression In Neurons By The C. Elegans Rfx Transcription Factor, Daf-19, Katherine P. Mueller 2016 Lawrence University

Activation Of Target Gene Expression In Neurons By The C. Elegans Rfx Transcription Factor, Daf-19, Katherine P. Mueller

Lawrence University Honors Projects

DAF-19, the only RFX transcription factor found in C. elegans, is required for the formation of neuronal sensory cilia. Four isoforms of the DAF-19 protein have been reported, and the m86 nonsense (null) mutation affecting all four isoforms has been shown to prevent cilia formation. Transcriptome analyses employing microarrays of L1 and adult stage worms were completed using RNA from daf-19(m86) worms and an isogenic wild type strain to identify additional putative DAF-19 target genes. Using transcriptional fusions with GFP, we compared the expression patterns of several potential gene targets using fluorescence confocal microscopy. Expression patterns were characterized in ...


Visions Of Living With Parkinson's Disease: A Photovoice Study, Danice Greer, Cheryl Cooper, Melinda Hermanns 2016 The University of Texas at Tyler

Visions Of Living With Parkinson's Disease: A Photovoice Study, Danice Greer, Cheryl Cooper, Melinda Hermanns

Melinda Hermanns

This poster was presented at the May 2014 UT Tyler Faculty Awards.


Reverse Engineering A Kinetic Model Of A Dopaminergic Neuron To Apoptosis, Johnathan Morris 2016 Rowan University

Reverse Engineering A Kinetic Model Of A Dopaminergic Neuron To Apoptosis, Johnathan Morris

Biology and Medicine Through Mathematics Conference

No abstract provided.


Theoretical And Experimental Analysis Of The Antioxidant And Anti-Amyloid Features Of Synthetic Resveratrol Mimics, William Horton, Anne Kokel, Fanni Török, Chris Tran, Marianna Török, Bela Török 2016 University of Massachusetts Boston

Theoretical And Experimental Analysis Of The Antioxidant And Anti-Amyloid Features Of Synthetic Resveratrol Mimics, William Horton, Anne Kokel, Fanni Török, Chris Tran, Marianna Török, Bela Török

UMass Center for Clinical and Translational Science Research Retreat

Diaryl hydrazones, possessing similar structure to the popular red wine antioxidant resveratrol, have been previously identified as multitarget compounds interfering with several processes associated with the pathogenesis of Alzheimer’s disease (AD). These compounds exhibited particularly strong inhibition of the amyloid beta (A) peptide self-assembly, including blocking the formation of fibrils and oligomers, species that are widely accepted to be neurotoxic. The molecules were also powerful free radical scavengers and thus have a potential to defend against oxidative stress.

In order to learn more about the mode of action of the compounds, theoretical and experimental studies have been carried out ...


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

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

Senior Theses and Projects

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 ...


Exploring The Effect Of Novel Small Molecules On Oligodendrocyte Precursor Proliferation, Sagune Sakya 2016 University of Connecticut - Storrs

Exploring The Effect Of Novel Small Molecules On Oligodendrocyte Precursor Proliferation, Sagune Sakya

University Scholar Projects

Gliomas, a type of brain tumor, can be difficult to treat and have a poor survival rate. One pathway that leads to glioma formation is excessive signaling by platelet derived growth factors (PDGF) through PDGF receptor α (PDGFRα). Through this research, I found that novel compounds that downregulate PDGFRα decrease proliferation of Oli-neu cells, an oligodendrocyte precursor cell model, and identified signaling pathways through which these compounds may exert their effect. Further investigation may identify targets for development of glioma treatments.


Lesion Identification And The Effect Of Lesion On Motor Mapping After Stroke, Ruixi Zhou 2016 Washington University in St. Louis

Lesion Identification And The Effect Of Lesion On Motor Mapping After Stroke, Ruixi Zhou

Engineering and Applied Science Theses & Dissertations

Stroke is the most common cause of long-term severe disability and the motor system that is most commonly affected in stroke. One of the mechanisms that underlies recovery of motor deficits is reorganization or remapping of functional representations around the motor cortex. This mechanism has been shown in monkeys, but results in human subjects have been variable. In this thesis, I used a database that includes longitudinal behavioral and multimodal imaging data in both stroke patients and healthy controls for two research projects. Firstly, I improved an automatic lesion segmentation method to aid in the identification of the location and ...


Neurological Care In Pakistan: Actions Are Needed, M. Wasay 2016 Aga Khan University

Neurological Care In Pakistan: Actions Are Needed, M. Wasay

Mohammad Wasay

No abstract provided.


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