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Articles 4261 - 4290 of 5929
Full-Text Articles in Medical Specialties
Intracranial Eeg Fluctuates Over Months After Implanting Electrodes In Human Brain., Hoameng Ung, Steven N. Baldassano, Hank Bink, Abba M. Krieger, Shawniqua Williams, Flavia Vitale, Chengyuan Wu, Dean Freestone, Ewan Nurse, Kent Leyde, Kathryn A. Davis, Mark Cook, Brian Litt
Intracranial Eeg Fluctuates Over Months After Implanting Electrodes In Human Brain., Hoameng Ung, Steven N. Baldassano, Hank Bink, Abba M. Krieger, Shawniqua Williams, Flavia Vitale, Chengyuan Wu, Dean Freestone, Ewan Nurse, Kent Leyde, Kathryn A. Davis, Mark Cook, Brian Litt
Department of Neurosurgery Faculty Papers
OBJECTIVE: Implanting subdural and penetrating electrodes in the brain causes acute trauma and inflammation that affect intracranial electroencephalographic (iEEG) recordings. This behavior and its potential impact on clinical decision-making and algorithms for implanted devices have not been assessed in detail. In this study we aim to characterize the temporal and spatial variability of continuous, prolonged human iEEG recordings.
APPROACH: Intracranial electroencephalography from 15 patients with drug-refractory epilepsy, each implanted with 16 subdural electrodes and continuously monitored for an average of 18 months, was included in this study. Time and spectral domain features were computed each day for each channel for …
Hemimegalencephaly With Intractable Epilepsy: A Case Report, Prem Chand, Muhammad Faraz Raghib, Muhammad Sohail Salat
Hemimegalencephaly With Intractable Epilepsy: A Case Report, Prem Chand, Muhammad Faraz Raghib, Muhammad Sohail Salat
Department of Paediatrics and Child Health
Isolated Hemimegalencephaly (iHME) is a rare form of congenital malformation of cortical development.It is characterized by enlargement of all or part of one cerebral hemisphere. It typically presents with intractable seizures, mental retardation, developmental delay, contralateral hemiparesis and hemianopia. The patient was a five and half month's old baby girl who presented first with focal seizures at 10th day of life. No other physical or behavioral abnormality was noted. However, Initial EEG showed excessive sharp EEG transients more over the right hemisphere, repeated EEG showed spikes, polyspikes, sharps and slow wave discharges predominately over right hemisphere. MRI brain showed asymmetric …
The Rna-Binding Protein Hur Contributes To Neuroinflammation By Promoting C-C Chemokine Receptor 6 (Ccr6) Expression On Th17 Cells., Jing Chen, Jennifer L. Martindale, Carole Cramer, Myriam Gorospe, Ulus Atasoy, Paul D. Drew, Shiguang Yu
The Rna-Binding Protein Hur Contributes To Neuroinflammation By Promoting C-C Chemokine Receptor 6 (Ccr6) Expression On Th17 Cells., Jing Chen, Jennifer L. Martindale, Carole Cramer, Myriam Gorospe, Ulus Atasoy, Paul D. Drew, Shiguang Yu
Department of Neurology Faculty Papers
In both multiple sclerosis and experimental autoimmune encephalomyelitis (EAE), the C-C chemokine receptor 6 (CCR6) is critical for pathogenic T helper 17 (Th17) cell migration to the central nervous system (CNS). Whereas many cytokines and their receptors are potently regulated via post-transcriptional mechanisms in response to various stimuli, how CCR6 expression is post-transcriptionally regulated in Th17 cells is unknown. Here, using RNA-binding protein HuR conditional knock-out (KO) and wild-type (WT) mice, we present evidence that HuR post-transcriptionally regulates CCR6 expression by binding to and stabilizing Ccr6 mRNA and by promoting CCR6 translation. We also found that HuR down-regulates several microRNA …
Ibrutinib Unmasks Critical Role Of Bruton Tyrosine Kinase In Primary Cns Lymphoma., Christian Grommes, Alessandro Pastore, Nicolaos Palaskas, Sarah S. Tang, Carl Campos, Derrek Schartz, Paolo Codega, Donna Nichol, Owen Clark, Wan-Ying Hsieh, Dan Rohle, Marc Rosenblum, Agnes Viale, Viviane S. Tabar, Cameron W. Brennan, Igor T. Gavrilovic, Thomas J. Kaley, Craig P. Nolan, Antonio Omuro, Elena Pentsova, Alissa A. Thomas, Elina Tsyvkin, Ariela Noy, M. Lia Palomba, Paul Hamlin, Craig S. Sauter, Craig H. Moskowitz, Julia Wolfe, Ahmet Dogan, Minhee Won, Jon Glass, Scott Peak, Enrico C. Lallana, Vaios Hatzoglou, Anne S. Reiner, Philip H. Gutin, Jason T. Huse, Katherine S. Panageas, Thomas G. Graeber, Nikolaus Schultz, Lisa M. Deangelis, Ingo K. Mellinghoff
Ibrutinib Unmasks Critical Role Of Bruton Tyrosine Kinase In Primary Cns Lymphoma., Christian Grommes, Alessandro Pastore, Nicolaos Palaskas, Sarah S. Tang, Carl Campos, Derrek Schartz, Paolo Codega, Donna Nichol, Owen Clark, Wan-Ying Hsieh, Dan Rohle, Marc Rosenblum, Agnes Viale, Viviane S. Tabar, Cameron W. Brennan, Igor T. Gavrilovic, Thomas J. Kaley, Craig P. Nolan, Antonio Omuro, Elena Pentsova, Alissa A. Thomas, Elina Tsyvkin, Ariela Noy, M. Lia Palomba, Paul Hamlin, Craig S. Sauter, Craig H. Moskowitz, Julia Wolfe, Ahmet Dogan, Minhee Won, Jon Glass, Scott Peak, Enrico C. Lallana, Vaios Hatzoglou, Anne S. Reiner, Philip H. Gutin, Jason T. Huse, Katherine S. Panageas, Thomas G. Graeber, Nikolaus Schultz, Lisa M. Deangelis, Ingo K. Mellinghoff
Department of Neurology Faculty Papers
Bruton tyrosine kinase (BTK) links the B-cell antigen receptor (BCR) and Toll-like receptors with NF-κB. The role of BTK in primary central nervous system (CNS) lymphoma (PCNSL) is unknown. We performed a phase I clinical trial with ibrutinib, the first-in-class BTK inhibitor, for patients with relapsed or refractory CNS lymphoma. Clinical responses to ibrutinib occurred in 10 of 13 (77%) patients with PCNSL, including five complete responses. The only PCNSL with complete ibrutinib resistance harbored a mutation within the coiled-coil domain of CARD11, a known ibrutinib resistance mechanism. Incomplete tumor responses were associated with mutations in the B-cell antigen receptor-associated …
Debate On Human Aging And Lifespan, Mohammad Rafi, Abass Alavi
Debate On Human Aging And Lifespan, Mohammad Rafi, Abass Alavi
Department of Neurology Faculty Papers
The issue of human lifespan has long been a matter of controversy among scientists. In spite of the recent claim by Dong et al that human lifespan is limited to 115 years, with the mounting improvements in biotechnology and scientific understanding of aging, we may be confident that aging will slow down over the course of the current century extending human longevity much longer than 115 years.
Clopidogrel Alone Is Safer Than Clopidogrel And Aspirin For Secondary Prevention Of Acute Ischemic Stroke., Bradford J. Woelke, Daniel Angell Do, Katherine Litow Md
Clopidogrel Alone Is Safer Than Clopidogrel And Aspirin For Secondary Prevention Of Acute Ischemic Stroke., Bradford J. Woelke, Daniel Angell Do, Katherine Litow Md
Clinical Research in Practice: The Journal of Team Hippocrates
A critical appraisal and clinical application of Diener HC, Bogousslavsky J, Brass LM, et al. Aspirin and clopidogrel compared with clopidogrel alone after recent ischaemic stroke or transient ischaemic attack in high-risk patients (MATCH): randomised, double-blind, placebo-controlled trial. Lancet. 2004;364(9431):331-337. doi: 10.1016/s0140-6736(04)16721-4
Delirium Reduction Strategies For The Critically Ill, June Chaves, Sam Canonico, Will Cheney, Tammy Corey, Gil Fraser, Alex Kowalewski, Jen Low, Cardiac Intensive Care Unit, Haley Pelletier, Cathy Palleschi, Stephen Tyzik, Suneela Nayak, Ruth Hanselman
Delirium Reduction Strategies For The Critically Ill, June Chaves, Sam Canonico, Will Cheney, Tammy Corey, Gil Fraser, Alex Kowalewski, Jen Low, Cardiac Intensive Care Unit, Haley Pelletier, Cathy Palleschi, Stephen Tyzik, Suneela Nayak, Ruth Hanselman
MaineHealth Maine Medical Center
Delirium, an acute and fluctuating disturbance of consciousness and cognition, is a common manifestation of acute brain dysfunction in critically ill patients. Patients with delirium have longer hospital stays and a lower 6-month survival rate than do patients without delirium. Preliminary research suggests that delirium may be associated with cognitive impairment that persists months to years after discharge.
In a large acute care hospital, the cardiac intensive care staff became interested in mitigating their unit’s high delirium rate of ventilated patients. At baseline, many members of the healthcare team did not believe that delirium could be prevented and the predominant …
The Effects Of Dance Therapy On Patients With Parkinson’S Disease: An Integrative Literature Review, Jennifer Pence
The Effects Of Dance Therapy On Patients With Parkinson’S Disease: An Integrative Literature Review, Jennifer Pence
Grace Peterson Nursing Research Colloquium
Abstract
Parkinson’s disease (PD) is a chronic, progressive, degenerative disease of the nervous system that affects more than one million Americans. Individuals who have PD generally exhibit bradykinesia, postural instability, shuffling steps and freezing during gait. These impairments in motor function cannot be fully addressed with pharmacological treatment and can eventually become unresponsive to this form of treatment. Dance therapy, on the other hand, is one non-pharmacological method that may prove beneficial for PD. It utilizes motor planning skills, which can lead to an improvement in muscle flexibility and balance. The purpose of the systematic integrative literature review was to …
Pineal Gland Tumor But Not Pinealoma: A Case Report, Syeda Naqvi, Chintan Rupareliya, Abdullah Shams, Maria Hameed, Zabeen Mahuwala, Pirthvi Raj Giyanwani
Pineal Gland Tumor But Not Pinealoma: A Case Report, Syeda Naqvi, Chintan Rupareliya, Abdullah Shams, Maria Hameed, Zabeen Mahuwala, Pirthvi Raj Giyanwani
Neurology Faculty Publications
The pineal gland is a small pinecone-shaped and functionally endocrine structure located in the epithalamus region. Developmentally, the pineal gland is considered as a part of the epithalamus. It plays a role in the entrainment of the circadian rhythms of an organism by producing melatonin, a functionally important hormone. Lesions of the pineal region are rare compared to other parts of the brain. A lesion may be tumorous or non-tumorous in nature. The most common lesions are tumors that are pineal parenchymal tumors (PPT) in origin. Gliomas are the second most common tumors in the pineal region. We report a …
Anterior Inferior Cerebellar Arteries Juxtaposed With The Internal Acoustic Meatus And Their Relationship To The Cranial Nerve Vii/Viii Complex., Fernando Alonso, Mohammad W Kassem, Joe Iwanaga, Rod J Oskouian, Marios Loukas, Amin Demerdash, R Shane Tubbs
Anterior Inferior Cerebellar Arteries Juxtaposed With The Internal Acoustic Meatus And Their Relationship To The Cranial Nerve Vii/Viii Complex., Fernando Alonso, Mohammad W Kassem, Joe Iwanaga, Rod J Oskouian, Marios Loukas, Amin Demerdash, R Shane Tubbs
Articles, Abstracts, and Reports
Vascular loops in the cerebellopontine angle (CPA) and their relationship to cranial nerves have been used to explain neurological symptoms. The anterior inferior cerebellar artery (AICA) has variable branches producing vascular loops that can compress the facial cranial nerve (CN) VII and vestibulocochlear (CN VIII) nerves. AICA compression of the facial-vestibulocochlear nerve complex can lead to various clinical presentations, including hemifacial spasm (HFS), tinnitus, and hemiataxia. The formation of arterial loops inside or outside of the internal auditory meatus (IAM) can cause abutment or compression of CN VII and CN VIII. Twenty-five (50 sides) fresh adult cadavers underwent dissection of …
Coding Of Velocity Storage In The Vestibular Nuclei, Sergei B. Yakushin, Theodore Raphan, Bernard Cohen
Coding Of Velocity Storage In The Vestibular Nuclei, Sergei B. Yakushin, Theodore Raphan, Bernard Cohen
Publications and Research
Semicircular canal afferents sense angular acceleration and output angular velocity with a short time constant of ≈4.5 s. This output is prolonged by a central integrative network, velocity storage that lengthens the time constants of eye velocity. This mechanism utilizes canal, otolith, and visual (optokinetic) information to align the axis of eye velocity toward the spatial vertical when head orientation is off-vertical axis. Previous studies indicated that vestibular-only (VO) and vestibular-pause-saccade (VPS) neurons located in the medial and superior vestibular nucleus could code all aspects of velocity storage. A recently developed technique enabled prolonged recording while animals were rotated and …
Tia1 Mutations In Amyotrophic Lateral Sclerosis And Frontotemporal Dementia Promote Phase Separation And Alter Stress Granule Dynamics., Ian R. Mackenzie, Alexandra M. Nicholson, Mohona Sarkar, James Messing, Maria D. Purice, Cyril Pottier, Kavya Annu, Matt Baker, Ralph B. Perkerson, Aishe Kurti, Billie J. Matchett, Tanja Mittag, Jamshid Temirov, Ging-Yuek R. Hsiung, Charles Krieger, Melissa E. Murray, Masato Kato, John D. Fryer, Leonard Petrucelli, Lorne Zinman, Sandra Weintraub, Marsel Mesulam, Julia Keith, Sasha A. Zivkovic, Veronica Hirsch-Reinshagen, Raymond P. Roos, Stephan Züchner, Neill R. Graff-Radford, Ronald C. Petersen, Richard J. Caselli, Zbigniew K. Wszolek, Elizabeth Finger, Carol Lippa, David Lacomis, Heather Stewart, Dennis W. Dickson, Hong Joo Kim, Ekaterina Rogaeva, Eileen Bigio, Kevin B. Boylan, J. Paul Taylor, Rosa Rademakers
Tia1 Mutations In Amyotrophic Lateral Sclerosis And Frontotemporal Dementia Promote Phase Separation And Alter Stress Granule Dynamics., Ian R. Mackenzie, Alexandra M. Nicholson, Mohona Sarkar, James Messing, Maria D. Purice, Cyril Pottier, Kavya Annu, Matt Baker, Ralph B. Perkerson, Aishe Kurti, Billie J. Matchett, Tanja Mittag, Jamshid Temirov, Ging-Yuek R. Hsiung, Charles Krieger, Melissa E. Murray, Masato Kato, John D. Fryer, Leonard Petrucelli, Lorne Zinman, Sandra Weintraub, Marsel Mesulam, Julia Keith, Sasha A. Zivkovic, Veronica Hirsch-Reinshagen, Raymond P. Roos, Stephan Züchner, Neill R. Graff-Radford, Ronald C. Petersen, Richard J. Caselli, Zbigniew K. Wszolek, Elizabeth Finger, Carol Lippa, David Lacomis, Heather Stewart, Dennis W. Dickson, Hong Joo Kim, Ekaterina Rogaeva, Eileen Bigio, Kevin B. Boylan, J. Paul Taylor, Rosa Rademakers
Department of Neurology Faculty Papers
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and overlapping clinical and pathological features. Here we studied a novel ALS/FTD family and identified the P362L mutation in the low-complexity domain (LCD) of T cell-restricted intracellular antigen-1 (TIA1). Subsequent genetic association analyses showed an increased burden of TIA1 LCD mutations in ALS patients compared to controls (p = 8.7 × 10
Chiari I Malformation And Spinal Cord Ischemia In A Cadaver., Faizullah Mashriqi, Marios Loukas, Rod J Oskouian, Anthony V D'Antoni, R Shane Tubbs
Chiari I Malformation And Spinal Cord Ischemia In A Cadaver., Faizullah Mashriqi, Marios Loukas, Rod J Oskouian, Anthony V D'Antoni, R Shane Tubbs
Articles, Abstracts, and Reports
With advanced imaging, the Chiari I malformation (CIM) is more frequently diagnosed than in the past when this entity was identified most commonly at autopsy. Herein, we report the rare case of an adult cadaver found not only to have CIM but also adjacent spinal cord ischemia. This case is discussed in the context of chronic compression of the spinal cord by a CIM and the need for close monitoring of these patients.
Cascaded Multi-View Canonical Correlation (Camcco) For Early Diagnosis Of Alzheimer's Disease Via Fusion Of Clinical, Imaging And Omic Features, Asha Singanamalli, Haibo Wang, Anant Madabhushi, Michael Weiner, Paul Aisen, Ronald Petersen, Clifford Jack, William Jagust, John Trojanowki, Arthur Toga, Laurel Beckett, Robert Green, Andrew Saykin, John Morris, Leslie Shaw, Jeffrey Kaye, Joseph Quinn, Lisa Silbert, Betty Lind, Raina Carter, Sara Dolen, Lon Schneider, Sonia Pawluczyk, Mauricio Beccera, Liberty Teodoro, Bryan Spann, James Brewer, Helen Vanderswag, Adam Fleisher, Judith Heidebrink, Charles Smith, Greg A. Jicha, Peter A. Hardy, Partha Sinha, Elizabeth Oates, Gary Conrad
Cascaded Multi-View Canonical Correlation (Camcco) For Early Diagnosis Of Alzheimer's Disease Via Fusion Of Clinical, Imaging And Omic Features, Asha Singanamalli, Haibo Wang, Anant Madabhushi, Michael Weiner, Paul Aisen, Ronald Petersen, Clifford Jack, William Jagust, John Trojanowki, Arthur Toga, Laurel Beckett, Robert Green, Andrew Saykin, John Morris, Leslie Shaw, Jeffrey Kaye, Joseph Quinn, Lisa Silbert, Betty Lind, Raina Carter, Sara Dolen, Lon Schneider, Sonia Pawluczyk, Mauricio Beccera, Liberty Teodoro, Bryan Spann, James Brewer, Helen Vanderswag, Adam Fleisher, Judith Heidebrink, Charles Smith, Greg A. Jicha, Peter A. Hardy, Partha Sinha, Elizabeth Oates, Gary Conrad
Neurology Faculty Publications
The introduction of mild cognitive impairment (MCI) as a diagnostic category adds to the challenges of diagnosing Alzheimer's Disease (AD). No single marker has been proven to accurately categorize patients into their respective diagnostic groups. Thus, previous studies have attempted to develop fused predictors of AD and MCI. These studies have two main limitations. Most do not simultaneously consider all diagnostic categories and provide suboptimal fused representations using the same set of modalities for prediction of all classes. In this work, we present a combined framework, cascaded multiview canonical correlation (CaMCCo), for fusion and cascaded classification that incorporates all diagnostic …
Linking Kindling To Increased Glutamate Release In The Dentate Gyrus Of The Hippocampus Through The Stxbp5/Tomosyn-1 Gene, Seth R. Batten, Elena A. Matveeva, Sidney W. Whiteheart, Thomas C. Vanaman, Greg A. Gerhardt, John T. Slevin
Linking Kindling To Increased Glutamate Release In The Dentate Gyrus Of The Hippocampus Through The Stxbp5/Tomosyn-1 Gene, Seth R. Batten, Elena A. Matveeva, Sidney W. Whiteheart, Thomas C. Vanaman, Greg A. Gerhardt, John T. Slevin
Psychology Faculty Publications
Introduction: In kindling, repeated electrical stimulation of certain brain areas causes progressive and permanent intensification of epileptiform activity resulting in generalized seizures. We focused on the role(s) of glutamate and a negative regulator of glutamate release, STXBP5/tomosyn-1, in kindling.
Methods: Stimulating electrodes were implanted in the amygdala and progression to two successive Racine stage 5 seizures was measured in wild-type and STXBP5/tomosyn-1−/− (Tom−/−) animals. Glutamate release measurements were performed in distinct brain regions using a glutamate-selective microelectrode array (MEA).
Results: Naïve Tom−/− mice had significant increases in KCl-evoked glutamate release compared to naïve wild type as …
Stress Increases Peripheral Axon Growth And Regeneration Through Glucocorticoid Receptor-Dependent Transcriptional Programs, Jessica K. Lerch, Jessica K. Alexander, Kathryn M. Madalena, Dario Motti, Tam Quach, Akhil Dhamija, Alicia Zha, John C. Gensel, Jeanette Webster Marketon, Vance P. Lemmon, John L. Bixby, Phillip G. Popovich
Stress Increases Peripheral Axon Growth And Regeneration Through Glucocorticoid Receptor-Dependent Transcriptional Programs, Jessica K. Lerch, Jessica K. Alexander, Kathryn M. Madalena, Dario Motti, Tam Quach, Akhil Dhamija, Alicia Zha, John C. Gensel, Jeanette Webster Marketon, Vance P. Lemmon, John L. Bixby, Phillip G. Popovich
Physiology Faculty Publications
Stress and glucocorticoid (GC) release are common behavioral and hormonal responses to injury or disease. In the brain, stress/GCs can alter neuron structure and function leading to cognitive impairment. Stress and GCs also exacerbate pain, but whether a corresponding change occurs in structural plasticity of sensory neurons is unknown. Here, we show that in female mice (Mus musculus) basal GC receptor (Nr3c1, also known as GR) expression in dorsal root ganglion (DRG) sensory neurons is 15-fold higher than in neurons in canonical stress-responsive brain regions (M. musculus). In response to stress or GCs, adult …
Burden Of Arrhythmias In Epilepsy Patients: A Nationwide Inpatient Analysis Of 1.4 Million Hospitalizations In The United States, Rupak Desai, Chintan Rupareliya, Upenkumar Patel, Syeda Naqvi, Smit Patel, Abhishek Lunagariya, Zabeen Mahuwala
Burden Of Arrhythmias In Epilepsy Patients: A Nationwide Inpatient Analysis Of 1.4 Million Hospitalizations In The United States, Rupak Desai, Chintan Rupareliya, Upenkumar Patel, Syeda Naqvi, Smit Patel, Abhishek Lunagariya, Zabeen Mahuwala
Neurology Faculty Publications
Arrhythmias have been one of the common complications in epilepsy patients and have also been the reason for death. However, limited data exist about the burden and outcomes of arrhythmias by subtypes in epilepsy. Our study aims at evaluating the burden and differences in outcomes of various subtypes of arrhythmias in epilepsy patient population. The Nationwide Inpatient Sample (NIS) database from 2014 was examined for epilepsy and arrhythmias related discharges using appropriate International Classification of Disease, Ninth Revision Clinical Modification (ICD-9-CM) codes. The frequency of arrhythmias, gender differences in arrhythmia by subtypes, in-hospital outcomes and mortality predictors was analyzed. A …
Impact Of Cocaine Use On Acute Ischemic Stroke Patients: Insights From Nationwide Inpatient Sample In The United States, Rupak Desai, Upenkumar Patel, Chintan Rupareliya, Sandeep Singh, Manan Shah, Rikinkumar S. Patel, Smit Patel, Zabeen Mahuwala
Impact Of Cocaine Use On Acute Ischemic Stroke Patients: Insights From Nationwide Inpatient Sample In The United States, Rupak Desai, Upenkumar Patel, Chintan Rupareliya, Sandeep Singh, Manan Shah, Rikinkumar S. Patel, Smit Patel, Zabeen Mahuwala
Neurology Faculty Publications
Cocaine is the third most common substance of abuse after cannabis and alcohol. The use of cocaine as an illicit substance is implicated as a causative factor for multisystem derangements ranging from an acute crisis to chronic complications. Vasospasm is the proposed mechanism behind adverse events resulting from cocaine abuse, acute ischemic strokes (AIS) being one of the few. Our study looked into in-hospital outcomes owing to cocaine use in the large population based study of AIS patients. Using the national inpatient sample (NIS) database from 2014 of United States of America, we identified AIS patients with cocaine use using …
Functionally Pathogenic Ears2 Variants In Vitro May Not Manifest A Phenotype In Vivo, Nathan Mcneill, Alessia Nasca, Aurelio Reyes, Benjamin Lemoine, Brandi Cantarel, Adeline Vanderver, Raphael Schiffmann, Daniele Ghezzi
Functionally Pathogenic Ears2 Variants In Vitro May Not Manifest A Phenotype In Vivo, Nathan Mcneill, Alessia Nasca, Aurelio Reyes, Benjamin Lemoine, Brandi Cantarel, Adeline Vanderver, Raphael Schiffmann, Daniele Ghezzi
Neurology Faculty Publications
Objective: To investigate the genetic etiology of a patient diagnosed with leukoencephalopathy, brain calcifications, and cysts (LCC).
Methods: Whole-exome sequencing was performed on a patient with LCC and his unaffected family members. The variants were subject to in silico and in vitro functional testing to determine pathogenicity.
Results: Whole-exome sequencing uncovered compound heterozygous mutations in EARS2, c.328G>A (p.G110S), and c.1045G>A (p.E349K). This gene has previously been implicated in the autosomal recessive leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). The p.G110S mutation has been found in multiple patients with LTBL. In silico analysis supported pathogenicity …
Clinical And Experimental Studies Of A Novel P525r Fus Mutation In Amyotrophic Lateral Sclerosis, Lisha Kuang, Marisa Kamelgarn, Alexandra Arenas, Jozsef Gal, Deborah Taylor, Weiming Gong, Martin Brown, Daret St. Clair, Edward J. Kasarskis, Haining Zhu
Clinical And Experimental Studies Of A Novel P525r Fus Mutation In Amyotrophic Lateral Sclerosis, Lisha Kuang, Marisa Kamelgarn, Alexandra Arenas, Jozsef Gal, Deborah Taylor, Weiming Gong, Martin Brown, Daret St. Clair, Edward J. Kasarskis, Haining Zhu
Molecular and Cellular Biochemistry Faculty Publications
Objective: To describe the clinical features of a novel fused in sarcoma (FUS) mutation in a young adult female amyotrophic lateral sclerosis (ALS) patient with rapid progression of weakness and to experimentally validate the consequences of the P525R mutation in cellular neuronal models.
Methods: We conducted sequencing of genomic DNA from the index patient and her family members. Immunocytochemistry was performed in various cellular models to determine whether the newly identified P525R mutant FUS protein accumulated in cytoplasmic inclusions. Clinical features of the index patient were compared with 19 other patients with ALS carrying the P525L mutation in the same …
Brain Microvascular Injury And White Matter Disease Provoked By Diabetes-Associated Hyperamylinemia, Han Ly, Nirmal Verma, Fengen Wu, Miao Liu, Kathryn E. Saatman, Peter T. Nelson, John T. Slevin, Larry B. Goldstein, Geert Jan Biessels, Florin Despa
Brain Microvascular Injury And White Matter Disease Provoked By Diabetes-Associated Hyperamylinemia, Han Ly, Nirmal Verma, Fengen Wu, Miao Liu, Kathryn E. Saatman, Peter T. Nelson, John T. Slevin, Larry B. Goldstein, Geert Jan Biessels, Florin Despa
Pharmacology and Nutritional Sciences Faculty Publications
OBJECTIVE: The brain blood vessels of patients with type 2 diabetes and dementia have deposition of amylin, an amyloidogenic hormone cosecreted with insulin. It is not known whether vascular amylin deposition is a consequence or a trigger of vascular injury. We tested the hypothesis that the vascular amylin deposits cause endothelial dysfunction and microvascular injury and are modulated by amylin transport in the brain via plasma apolipoproteins.
METHODS: Rats overexpressing amyloidogenic (human) amylin in the pancreas (HIP rats) and amylin knockout (AKO) rats intravenously infused with aggregated amylin were used for in vivo phenotyping. We also carried out biochemical analyses …
A Retrospective Review Of Paediatric Head Injuries In Asia - A Pan Asian Trauma Outcomes Study (Patos) Collaboration, Shu-Ling Chong, Uzma R. Khan, Indumathy Santhanam, Jun Seok Seo, Quan Wang, Sabariah Faizah Jamaluddin,, Quoc Ai Hoang Quoc, Su Yah Chew, Marcus Eng Hock Ong
A Retrospective Review Of Paediatric Head Injuries In Asia - A Pan Asian Trauma Outcomes Study (Patos) Collaboration, Shu-Ling Chong, Uzma R. Khan, Indumathy Santhanam, Jun Seok Seo, Quan Wang, Sabariah Faizah Jamaluddin,, Quoc Ai Hoang Quoc, Su Yah Chew, Marcus Eng Hock Ong
Department of Emergency Medicine
Objective: We aim to examine the mechanisms of head-injured children presenting to participating centres in the Pan Asian Trauma Outcomes Study (PATOS) and to evaluate the association between mechanism of injury and severe outcomes.
Design and Setting: We performed a retrospective review of medical records among emergency departments (EDs) of eight PATOS centres, from September 2014 - August 2015.
Participants: We included children <16 years old who presented within 24 hours of head injury and were admitted for observation or required a computed tomography (CT) of the brain from the ED. We excluded children with known coagulopathies, neurological co-morbidities or prior neurosurgery. We reviewed the mechanism, intent, location and object involved in each injury, and the patients' physical findings on presentation.
Outcomes: Primary outcomes were death, endotracheal intubation or neurosurgical intervention. Secondary outcomes included hospital and ED length of stay.
Results: 1438 children were analysed. 953 children (66.3%) were male and the median age was 5.0 years (IQR …16>
A Tnf-Jnk-Axl-Erk Signaling Axis Mediates Primary Resistance To Egfr Inhibition In Glioblastoma., Gao Guo, Ke Gong, Sonia Ali, Neha Ali, Shahzad Shallwani, Kimmo J Hatanpaa, Edward Pan, Bruce Mickey, Sandeep Burma, David H Wang, Santosh Kesari, Jann N Sarkaria, Dawen Zhao, Amyn A Habib
A Tnf-Jnk-Axl-Erk Signaling Axis Mediates Primary Resistance To Egfr Inhibition In Glioblastoma., Gao Guo, Ke Gong, Sonia Ali, Neha Ali, Shahzad Shallwani, Kimmo J Hatanpaa, Edward Pan, Bruce Mickey, Sandeep Burma, David H Wang, Santosh Kesari, Jann N Sarkaria, Dawen Zhao, Amyn A Habib
Articles, Abstracts, and Reports
Aberrant epidermal growth factor receptor (EGFR) signaling is widespread in cancer, making the EGFR an important target for therapy. EGFR gene amplification and mutation are common in glioblastoma (GBM), but EGFR inhibition has not been effective in treating this tumor. Here we propose that primary resistance to EGFR inhibition in glioma cells results from a rapid compensatory response to EGFR inhibition that mediates cell survival. We show that in glioma cells expressing either EGFR wild type or the mutant EGFRvIII, EGFR inhibition triggers a rapid adaptive response driven by increased tumor necrosis factor (TNF) secretion, which leads to activation in …
Speech Processing Approach For Diagnosing Dementia In An Early Stage, Roozbeh Sadeghian, J. David Schaffer, Stephen A. Zahorian
Speech Processing Approach For Diagnosing Dementia In An Early Stage, Roozbeh Sadeghian, J. David Schaffer, Stephen A. Zahorian
Faculty Works
The clinical diagnosis of Alzheimer’s disease and other dementias is very challenging, especially in the early stages. Our hypothesis is that any disease that affects particular brain regions involved in speech production and processing will also leave detectable finger prints in the speech. Computerized analysis of speech signals and computational linguistics have progressed to the point where an automatic speech analysis system is a promising approach for a low-cost non-invasive diagnostic tool for early detection of Alzheimer’s disease.
We present empirical evidence that strong discrimination between subjects with a diagnosis of probable Alzheimer’s versus matched normal controls can be achieved …
Impact Of Home Visit Capacity On Genetic Association Studies Of Late-Onset Alzheimer's Disease., David W Fardo, Laura E Gibbons, Shubhabrata Mukherjee, M Maria Glymour, Wayne Mccormick, Susan M Mccurry, James D Bowen, Eric B Larson, Paul K Crane
Impact Of Home Visit Capacity On Genetic Association Studies Of Late-Onset Alzheimer's Disease., David W Fardo, Laura E Gibbons, Shubhabrata Mukherjee, M Maria Glymour, Wayne Mccormick, Susan M Mccurry, James D Bowen, Eric B Larson, Paul K Crane
Articles, Abstracts, and Reports
INTRODUCTION: Findings for genetic correlates of late-onset Alzheimer's disease (LOAD) in studies that rely solely on clinic visits may differ from those with capacity to follow participants unable to attend clinic visits.
METHODS: We evaluated previously identified LOAD-risk single nucleotide variants in the prospective Adult Changes in Thought study, comparing hazard ratios (HRs) estimated using the full data set of both in-home and clinic visits (n = 1697) to HRs estimated using only data that were obtained from clinic visits (n = 1308). Models were adjusted for age, sex, principal components to account for ancestry, and additional health indicators.
RESULTS: …
Pro-Angiogenesis Therapy And Aging: A Mini-Review, Charles T. Ambrose
Pro-Angiogenesis Therapy And Aging: A Mini-Review, Charles T. Ambrose
Microbiology, Immunology, and Molecular Genetics Faculty Publications
Apart from major illnesses and chronic afflictions, the elderly experience lesser ailments, such as muscle weakness, cold intolerance, and transient memory lapses. Physical signs in the aged include wrinkled skin and the slow healing of skin abrasions. These ailments and signs are grouped together because they may be due in part to an age-linked, waning microcirculation. A reduced capillary density (CD) throughout the body of aged people and animals has been reported in over 40 papers. The reduced CD is due in turn to declining levels of angiogenic growth factors (AGFs) throughout the body during old age, as documented in …
Quantitative Anterior And Posterior Clinoidectomy Analysis And Mobilization Of The Oculomotor Nerve During Surgical Exposure Of The Basilar Apex Using Frameless Stereotaxis., Aclan Dogan, Justin S Cetas, Gregory J Anderson, Andy Rekito, Johnny B Delashaw
Quantitative Anterior And Posterior Clinoidectomy Analysis And Mobilization Of The Oculomotor Nerve During Surgical Exposure Of The Basilar Apex Using Frameless Stereotaxis., Aclan Dogan, Justin S Cetas, Gregory J Anderson, Andy Rekito, Johnny B Delashaw
Articles, Abstracts, and Reports
No abstract provided.
Role Of Surgery In Brain Metastases, Altaf Ali Laghari, Syed Ijlal Ahmed, Muhammad Shahzad Shamim
Role Of Surgery In Brain Metastases, Altaf Ali Laghari, Syed Ijlal Ahmed, Muhammad Shahzad Shamim
Department of Surgery Docs
Abstract Brain metastases remain the commonest type of brain tumour, being four times more common than primary brain tumours. Although surgical intervention may be recommended for one of various reasons in the management of these tumours, including but not limited to conformation of diagnosis, relief of mass effect, improvement of neurological status and prolongation of survival, the guidelines for management of brain metastases remain largely subjective and therefore controversial. Herein the authors have attempted to review some of the existing evidence on role of surgery in the management of brain metastases and have presented their selected guidelines for the readers.
Variant Prevertebral Muscle: Unique Cadaveric Findings., Jocelyn R Gonzales, Joe Iwanaga, Rod J Oskouian, R Shane Tubbs
Variant Prevertebral Muscle: Unique Cadaveric Findings., Jocelyn R Gonzales, Joe Iwanaga, Rod J Oskouian, R Shane Tubbs
Articles, Abstracts, and Reports
The levator scapulae muscle typically runs from the transverse process of the atlas to the superior angle of the scapula. In this paper, we describe a rare finding identified during a dissection of a male cadaver, wherein a continuation of the right levator scapulae ran past its normal attachment to the C1 transverse process, fusing with the inferior attachment of the rectus capitis lateralis muscle. No variants were found on the opposite side, and the innervation of the levator scapulae muscle variant was typical of that of a normal levator scapulae. We also describe other related variants of the cranial …
A Randomized Controlled Trial Of Disclosing Genetic Risk Information For Alzheimer Disease Via Telephone, Peter J. Whitehouse, Melissa Barber Butson
A Randomized Controlled Trial Of Disclosing Genetic Risk Information For Alzheimer Disease Via Telephone, Peter J. Whitehouse, Melissa Barber Butson
Faculty Scholarship
Purpose: Telephone disclosure of genetic test results can improve access to services. To date, studies of its impact have focused on return of Mendelian risk information, principally hereditary cancer syndromes.Methods: In a multisite trial of Alzheimer disease genetic risk disclosure, asymptomatic adults were randomized to receive test results in person or via telephone. Primary analyses examined patient outcomes 12 months after disclosure.Results: Data from 257 participants showed that telephone disclosure occurred 7.4 days sooner and was 30% shorter, on average, than in-person disclosure (both P < 0.001). Anxiety and depression scores were well below cutoffs for clinical concern across protocols. Comparing telephone and in-person disclosure protocols, 99% confidence intervals of mean differences were within noninferiority margins on scales assessing anxiety, depression, and test-related distress, but inconclusive about positive impact. No differences were observed on measures of recall and subjective impact. Subanalyses supported noninferiority on all outcomes among apolipoprotein E (APOE) I 4-negative participants. Subanalyses were inconclusive for APOE I 4-positive participants, although mean anxiety and depression scores were still well below cutoffs for clinical concern. Conclusion: Telephone disclosure of APOE results and risk for Alzheimer disease is generally safe and helps providers meet demands for services, even when results identify an increased risk for disease.