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Structural Insights Into The Potency Of Sk Channel Positive Modulators, Young-Woo Nam, Razan Orfali, Tingting Liu, Kunqian Yu, Meng Cui, Heike Wulff, Miao Zhang 2017 Chapman University

Structural Insights Into The Potency Of Sk Channel Positive Modulators, Young-Woo Nam, Razan Orfali, Tingting Liu, Kunqian Yu, Meng Cui, Heike Wulff, Miao Zhang

Pharmacy Faculty Articles and Research

Small-conductance Ca2+-activated K+ (SK) channels play essential roles in the regulation of cellular excitability and have been implicated in neurological and cardiovascular diseases through both animal model studies and human genetic association studies. Over the past two decades, positive modulators of SK channels such as NS309 and 1-EBIO have been developed. Our previous structural studies have identified the binding pocket of 1-EBIO and NS309 that is located at the interface between the channel and calmodulin. In this study, we took advantage of four compounds with potencies varying over three orders of magnitude, including 1-EBIO, NS309, SKS-11 (6-bromo-5-methyl-1H-indole-2 ...


X-Linked Hypomyelination With Spondylometaphyseal Dysplasia (H-Smd) Associated With Mutations In Aifm1., Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Ryan J Taft, Adeline Vanderver, +several additional authors 2017 George Washington University

X-Linked Hypomyelination With Spondylometaphyseal Dysplasia (H-Smd) Associated With Mutations In Aifm1., Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Ryan J Taft, Adeline Vanderver, +Several Additional Authors

Neurology Faculty Publications

An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 mutation. In our study, 12 patients (6 families) with H-SMD were identified and underwent comprehensive assessment accompanied by whole-exome sequencing (WES). Pedigree analysis in all families was consistent with X-linked recessive inheritance. Presentation typically occurred between 12 and 36 months. In addition to the two disease-defining features of spondylometaphyseal dysplasia and hypomyelination on MRI, common clinical signs and symptoms included motor deterioration, spasticity, tremor ...


Effect Of Src Kinase Inhibition On Cytochrome C, Smac/Diablo And Apoptosis Inducing Factor (Aif) Following Cerebral Hypoxia-Ischemia In Newborn Piglets., Panagiotis Kratimenos, Ioannis Koutroulis, Beamon Agarwal, Stamatios Theocharis, Maria Delivoria-Papadopoulos 2017 George Washington University

Effect Of Src Kinase Inhibition On Cytochrome C, Smac/Diablo And Apoptosis Inducing Factor (Aif) Following Cerebral Hypoxia-Ischemia In Newborn Piglets., Panagiotis Kratimenos, Ioannis Koutroulis, Beamon Agarwal, Stamatios Theocharis, Maria Delivoria-Papadopoulos

Pediatrics Faculty Publications

We have previously shown that cerebral Hypoxia-ischemia (HI) results in activation of Src kinase in the newborn piglet brain. We investigated the regulatory mechanism by which the pre-apoptotic proteins translocate from mitochondria to the cytosol during HI through the Src kinase. Newborn piglets were divided into 3 groups (n = 5/group): normoxic (Nx), HI and HI pre-treated with Src kinase inhibitor PP2 (PP2 + HI). Brain tissue HI was verified by neuropathological analysis and by Adenosine Triphosphate (ATP) and Phosphocreatine (PCr) levels. We used western blots, immunohistochemistry, H&E and biochemical enzyme assays to determine the role of Src kinase on ...


Unexpected Dual Task Benefits On Cycling In Parkinson Disease And Healthy Adults: A Neuro-Behavioral Model, Lori J. P. Altmann, Elizabeth L. Stegemoller, Audrey A. Hazamy, Jonathan P. Wilson, Michael S. Okun, Nikolaus R. McFarland, Aparna W. Shukla, Chris J. Hass 2017 University of Florida

Unexpected Dual Task Benefits On Cycling In Parkinson Disease And Healthy Adults: A Neuro-Behavioral Model, Lori J. P. Altmann, Elizabeth L. Stegemoller, Audrey A. Hazamy, Jonathan P. Wilson, Michael S. Okun, Nikolaus R. Mcfarland, Aparna W. Shukla, Chris J. Hass

Elizabeth L. Stegemoller

Background When performing two tasks at once, a dual task, performance on one or both tasks typically suffers. People with Parkinson’s disease (PD) usually experience larger dual task decrements on motor tasks than healthy older adults (HOA). Our objective was to investigate the decrements in cycling caused by performing cognitive tasks with a range of difficulty in people with PD and HOAs. Methods Twenty-eight participants with Parkinson’s disease and 20 healthy older adults completed a baseline cycling task with no secondary tasks and then completed dual task cycling while performing 12 tasks from six cognitive domains representing a ...


Brain Imaging In Older Patients With Delirium, Laila M. Hasan, Ariba Khan, Maharaj Singh, Michael L. Malone 2017 Aurora St. Luke's Medical Center

Brain Imaging In Older Patients With Delirium, Laila M. Hasan, Ariba Khan, Maharaj Singh, Michael L. Malone

Journal of Patient-Centered Research and Reviews

Background: Delirium is a common, serious and costly condition in older patients admitted to the hospital. This study describes the prevalence and results of brain imaging among a cohort of older hospitalized patients with and without delirium.

Purpose: Investigate the frequency and results of brain imaging in older patients with delirium as compared to those without delirium.

Methods: This was a cross-sectional study. Data were collected on hospitalized patients age 65 years or older who were admitted to 3 hospitals in Milwaukee, Wisconsin, during a 1-month period in the fall of 2013. Subjects were tested for delirium via the “Confusion ...


Medical Therapies For Motor Symptoms In Parkinson’S Disease, Conrad Musey, Vikram Shivkumar 2017 Marshall University Joan C. Edwards School of Medicine

Medical Therapies For Motor Symptoms In Parkinson’S Disease, Conrad Musey, Vikram Shivkumar

Marshall Journal of Medicine

Parkinson’s Disease is the second most common neurodegenerative disorder in the aging population. It is associated with progressive loss of nigrostriatal dopaminergic neurons. Parkinsonism is a clinical syndrome that consists of motor and non-motor symptoms. It has been well described that many if not all of these deficits are associated with abnormalities related to the neurotransmitter Dopamine. This review is intended for primary care physicians who often establish the diagnosis and initiate Parkinson’s treatments. One challenge faced by the primary care physician is to decide the appropriate medication and starting dose. Often medications are used at very low ...


Ufm1 Founder Mutation In The Roma Population Causes Recessive Variant Of H-Abc., Eline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar, Dana Dojčáková, Adeline Vanderver, Recessive H-ABC Research Group. 2017 George Washington University

Ufm1 Founder Mutation In The Roma Population Causes Recessive Variant Of H-Abc., Eline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar, Dana Dojčáková, Adeline Vanderver, Recessive H-Abc Research Group.

Neurology Faculty Publications

OBJECTIVE: To identify the gene defect in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) who are negative for TUBB4A mutations.

METHODS: We performed homozygosity mapping and whole exome sequencing (WES) to detect the disease-causing variant. We used a Taqman assay for population screening. We developed a luciferase reporter construct to investigate the effect of the promoter mutation on expression.

RESULTS: Sixteen patients from 14 families from different countries fulfilling the MRI criteria for H-ABC exhibited a similar, severe clinical phenotype, including lack of development and a severe epileptic encephalopathy. The majority of patients had a ...


Mental Illness And The Grace Of God, Laura K. Sjoquist 2017 Cedarville University

Mental Illness And The Grace Of God, Laura K. Sjoquist

Bioethics in Faith and Practice

This paper will attempt to address God's grace towards those with mental illnesses. It also attempts to provide direction in response to historical church views towards this population. Through scripture, this paper seeks to emphasize the importance of seeing a person as more than what they physically appear capable of - seeing people through God's eyes.


Role Of Microglial Amylin Receptors In Mediating Beta Amyloid (Aβ)-Induced Inflammation, Wen Fu, Vlatka Vukojevic, Aarti Patel, Rania Soudy, David MacTavish, David Westaway, Kamaljit Kaur, Valeri Goncharuk, Jack Jhamandas 2017 University of Alberta

Role Of Microglial Amylin Receptors In Mediating Beta Amyloid (Aβ)-Induced Inflammation, Wen Fu, Vlatka Vukojevic, Aarti Patel, Rania Soudy, David Mactavish, David Westaway, Kamaljit Kaur, Valeri Goncharuk, Jack Jhamandas

Pharmacy Faculty Articles and Research

Background: Neuroinflammation in the brain consequent to activation of microglia is viewed as an important component of Alzheimer’s disease (AD) pathology. Amyloid beta (Aβ) protein is known to activate microglia and unleash an inflammatory cascade that eventually results in neuronal dysfunction and death. In this study, we sought to identify the presence of amylin receptors on human fetal and murine microglia and determine whether Aβ activation of the inflammasome complex and subsequent release of cytokines is mediated through these receptors.

Methods: The presence of dimeric components of the amylin receptor (calcitonin receptor and receptor activity modifying protein 3) were ...


Will Vestibulo-Ocular Reflex And Balance Rehabilitation Reduce Visual Deficits & Improve Stability Of A Patient With Multiple Sclerosis?, Natalie Hunt, Jennifer Kiggins 2017 Sacred Heart University

Will Vestibulo-Ocular Reflex And Balance Rehabilitation Reduce Visual Deficits & Improve Stability Of A Patient With Multiple Sclerosis?, Natalie Hunt, Jennifer Kiggins

Sacred Heart University Scholar

Context: Identification of rehabilitation exercises to decrease symptomology in a patient with Multiple Sclerosis (MS) is necessary for enhancing quality of life. Various vestibulo-ocular reflex (VOR) rehabilitation exercises can help patients adapt to balance problems. Currently, no researcher has utilized the VSR™ Sport and inVision™ systems by NeuroCom® for rehabilitation among patients with MS.

Objective: The purpose of the study was to create a rehabilitation protocol incorporating VOR and balance exercises to decrease visual deficits and improve stability in a patient with MS. This study will examine the effects of rehabilitation and determine if scores improve from baseline testing.

Design ...


Overview Of Surgical Management Of Infectious Non-Suppurative Brain Lesions, Muhammad Shahzad Shamim, Syed Ather Enam, Rushna Pervez Ali, Syed Faizan Ali, Mohammad Wasay 2017 Aga Khan University

Overview Of Surgical Management Of Infectious Non-Suppurative Brain Lesions, Muhammad Shahzad Shamim, Syed Ather Enam, Rushna Pervez Ali, Syed Faizan Ali, Mohammad Wasay

Ather Enam

No abstract provided.


Lipidomic Evaluation Of Feline Neurologic Disease After Aav Gene Therapy, Heather L. Gray-Edwards, Xuntian Jiang, Ashley N. Randle, Amanda R. Taylor, Taylor L. Voss, Aime K. Johnson, Victoria J. McCurdy, Miguel Sena-Esteves, Daniel S. Ory, Douglas R. Martin 2017 Auburn University

Lipidomic Evaluation Of Feline Neurologic Disease After Aav Gene Therapy, Heather L. Gray-Edwards, Xuntian Jiang, Ashley N. Randle, Amanda R. Taylor, Taylor L. Voss, Aime K. Johnson, Victoria J. Mccurdy, Miguel Sena-Esteves, Daniel S. Ory, Douglas R. Martin

Open Access Articles

GM1 gangliosidosis is a fatal lysosomal disorder, for which there is no effective treatment. Adeno-associated virus (AAV) gene therapy in GM1 cats has resulted in a greater than 6-fold increase in lifespan, with many cats remaining alive at > 5.7 years of age, with minimal clinical signs. Glycolipids are the principal storage product in GM1 gangliosidosis whose pathogenic mechanism is not completely understood. Targeted lipidomics analysis was performed to better define disease mechanisms and identify markers of disease progression for upcoming clinical trials in humans. 36 sphingolipids and subspecies associated with ganglioside biosynthesis were tested in the cerebrospinal fluid of ...


Reframing Outcome Measures For Thrombolytics In Acute Ischemic Stroke, Brandon Baker, Charles W. Kropf, Nicholus Yee, James Peter Meza 2017 DMC-Sinai Grace Hospital Emergency Medicine Residency

Reframing Outcome Measures For Thrombolytics In Acute Ischemic Stroke, Brandon Baker, Charles W. Kropf, Nicholus Yee, James Peter Meza

Clinical Research in Practice: The Journal of Team Hippocrates

An informed consent conversation examining relevant research and discussing the potential benefits and harms of thrombolytic therapy in acute stroke.


Brain Networks In People After A First Unprovoked Seizure, Kristin M. Ikeda 2017 The University of Western Ontario

Brain Networks In People After A First Unprovoked Seizure, Kristin M. Ikeda

Electronic Thesis and Dissertation Repository

Background: A single unprovoked seizure occurs in up to 10% of the population. Some develop epilepsy, but the majority do not. Brain network changes are observed in people with epilepsy, but it is unknown if they are present after this first seizure. This study examines network connectivity after the first seizure to determine if any changes exist.

Methods: Twelve patients after a single unprovoked seizure and twelve age- and sex-matched healthy controls were recruited. All underwent 7T resting-state fMRI scanning. Whole brain and limbic, default mode and salience network connectivity were analyzed with graph theory.

Results: Baseline characteristics were similar ...


(Ccug)N Rna Toxicity In A Drosophila Model Of Myotonic Dystrophy Type 2 (Dm2) Activates Apoptosis, Vildan Betul Yenigun, Mario Sirito, Alla Amcheslavsky, Tomek Czernuszewicz, Jordi Colonques-Bellmunt, Irma Garcia-Alcover, Marzena Wojciechowska, Clare Bolduc, Zhihong Chen, Arturo Lopez Castel, Ralf Krahe, Andreas Bergmann 2017 University of Texas

(Ccug)N Rna Toxicity In A Drosophila Model Of Myotonic Dystrophy Type 2 (Dm2) Activates Apoptosis, Vildan Betul Yenigun, Mario Sirito, Alla Amcheslavsky, Tomek Czernuszewicz, Jordi Colonques-Bellmunt, Irma Garcia-Alcover, Marzena Wojciechowska, Clare Bolduc, Zhihong Chen, Arturo Lopez Castel, Ralf Krahe, Andreas Bergmann

Open Access Articles

The myotonic dystrophies are prototypic toxic RNA gain-of-function diseases. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are caused by different unstable, noncoding microsatellite repeat expansions - (CTG)DM1 in DMPK and (CCTG)DM2 in CNBP Although transcription of mutant repeats into (CUG)DM1 or (CCUG)DM2 appears to be necessary and sufficient to cause disease, their pathomechanisms remain incompletely understood. To study the mechanisms of (CCUG)DM2 toxicity and develop a convenient model for drug screening, we generated a transgenic DM2 model in the fruit fly Drosophila melanogaster with (CCUG)n repeats of variable length (n=16 and 106 ...


The Lysosomal Protein Cathepsin L Is A Progranulin Protease, Chris W. Lee, Jeannette N. Stankowski, Jeannie Chew, Casey N. Cook, Ying-Wai Lam, Sandra Almeida, Yari Carlomagno, Kwok-Fai Lau, Mercedes Prudencio, Fen-Biao Gao, Matthew Bogyo, Dennis W. Dickson, Leonard Petrucelli 2017 Mayo Clinic

The Lysosomal Protein Cathepsin L Is A Progranulin Protease, Chris W. Lee, Jeannette N. Stankowski, Jeannie Chew, Casey N. Cook, Ying-Wai Lam, Sandra Almeida, Yari Carlomagno, Kwok-Fai Lau, Mercedes Prudencio, Fen-Biao Gao, Matthew Bogyo, Dennis W. Dickson, Leonard Petrucelli

Open Access Articles

Haploinsufficiency of GRN, the gene encoding progranulin (PGRN), causes frontotemporal lobar degeneration (FTLD), the second most common cause of early-onset dementia. Receptor-mediated lysosomal targeting has been shown to regulate brain PGRN levels, and complete deficiency of PGRN is a direct cause of neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease. Here we show that the lysosomal cysteine protease cathepsin L (Cat L) can mediate the proteolytic cleavage of intracellular PGRN into poly-granulin and granulin fragments. Further, PGRN and Cat L co-localize in lysosomes of HEK293 cells, iPSC-derived neurons and human cortical neurons from human postmortem tissue. These data identify Cat ...


“Can’T You Just Say?” – Contrasting Communication Preferences Between Surrogate Decision-Makers And Physicians During Outcome Prognostication In Critically-Ill Traumatic Brain Injury Patients, Thomas Quinn, Jesse Moskowitz, Muhammad Khan, Lori Shutter, Robert J. Goldberg, Nananda Col, Kathleen M. Mazor, Susanne Muehlschlegel 2017 University of Massachusetts Medical School

“Can’T You Just Say?” – Contrasting Communication Preferences Between Surrogate Decision-Makers And Physicians During Outcome Prognostication In Critically-Ill Traumatic Brain Injury Patients, Thomas Quinn, Jesse Moskowitz, Muhammad Khan, Lori Shutter, Robert J. Goldberg, Nananda Col, Kathleen M. Mazor, Susanne Muehlschlegel

Kathleen M. Mazor

Objective: Surrogate decision-makers (“surrogates”) and physicians of incapacitated patients have different views of prognosis and how it should be communicated, but this has not been investigated in neurocritically-ill patients. We examined communication preferences in surrogates and physician practices during the outcome prognostication for critically-ill traumatic brain injury (ciTBI) patients in neuroICUs.

Design: Qualitative study using in-person semi-structured interviews with surrogates of ciTBI patients and physicians with expertise in TBI.

Setting: Two neuroICUs at two level-1 trauma centers (surrogates); seven academic U.S. medical centers (physicians).

Subjects: Sixteen surrogates for 15 ciTBI patients and 20 attending physicians from neurocritical care, neurosurgery ...


Variable Knowledge, Use And Perceptions Of The Impact Model Among Physicians During Prognostication Meetings For Critically-Ill Traumatic Brain Injury Patients – Results From A Qualitative Study, Jesse Moskowitz, Thomas Quinn, Muhammad Khan, Lori Shutter, Robert J. Goldberg, Nananda Col, Kathleen M. Mazor, Susanne Muehlschlegel 2017 University of Massachusetts Medical School

Variable Knowledge, Use And Perceptions Of The Impact Model Among Physicians During Prognostication Meetings For Critically-Ill Traumatic Brain Injury Patients – Results From A Qualitative Study, Jesse Moskowitz, Thomas Quinn, Muhammad Khan, Lori Shutter, Robert J. Goldberg, Nananda Col, Kathleen M. Mazor, Susanne Muehlschlegel

Kathleen M. Mazor

Introduction: The International Patient Decision Aid Standards, a framework for the creation of high-quality decision aids, calls for the presentation of probabilities. To inform the content of a goals-of-care decision aid in critically-ill TBI (ciTBI) patients, we examined physician’s awareness, perceptions, and use of the IMPACT-model, the most widely validated ciTBI outcome model, and explored their preferences for communicating prognostic information towards families.

Methods: We conducted a qualitative study using semi-structured interviews in 20 attending physicians (neurocritical care, neurosurgery, trauma, palliative care) at 7 U.S. academic medical centers. We used descriptive statistics and performed qualitative content analysis of ...


Alzheimer’S Disease: Dawn Of A New Era?, Farideh Amirrad, Emira Bousoik, Kiumars Shamloo, Hassan Al-Shiyab, Viet-Hong Nguyen, Hamidreza Montazeri Aliabadi 2017 Chapman University

Alzheimer’S Disease: Dawn Of A New Era?, Farideh Amirrad, Emira Bousoik, Kiumars Shamloo, Hassan Al-Shiyab, Viet-Hong Nguyen, Hamidreza Montazeri Aliabadi

Pharmacy Faculty Articles and Research

Alzheimer’s disease (AD) is an irreversible neurodegenerative disease characterized by a progressive decline in cognition and memory, leading to significant impairment in daily activities and ultimately death. It is the most common cause of dementia, the prevalence of which increases with age; however, age is not the only predisposing factor. The pathology of this cognitive impairing disease is still not completely understood, which has limited the development of valid therapeutic options. Recent years have witnessed a wide range of novel approaches to combat this disease, so that they greatly increased our understanding of the disease and of the unique ...


Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer 2017 DePaul University

Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer

DePaul Discoveries

Reduction of stressors and anxiety levels in adolescents with chronic illnesses is a critical concept in pediatric health care in America today. The many stressors associated with chronic illness include displaying physical and mental differences, social stigma, financial difficulty, and family stress. These stressors may affect the adolescent’s ability to learn and cope in everyday life. The current research was a critical review of the literature examining studies done with adolescents coping with chronic diseases and illnesses. The aim was to analyze the most efficacious non-pharmacological methods for reducing stressors in adolescents with chronic illness. A critical review of ...


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