Medicine and Health Sciences Commons^™

Hyperosmolar Therapy For Raised Intracranial Pressure., Ethan A Benardete

Department of Neurosurgery Faculty Papers

No abstract provided.

Global Profiling Of Alternative Splicing Events And Gene Expression Regulated By Hnrnph/F, Erming Wang, Vahid Aslanzadeh, Filomena Papa, Haiyan Zhu, Pierre De La Grange, Franca Cambi

Neurology Faculty Publications

In this study, we have investigated the global impact of heterogeneous nuclear Ribonuclear Protein (hnRNP) H/F-mediated regulation of splicing events and gene expression in oligodendrocytes. We have performed a genome-wide transcriptomic analysis at the gene and exon levels in Oli-neu cells treated with siRNA that targets hnRNPH/F compared to untreated cells using Affymetrix Exon Array. Gene expression levels and regulated exons were identified with the GenoSplice EASANA algorithm. Bioinformatics analyses were performed to determine the structural properties of G tracts that correlate with the function of hnRNPH/F as enhancers vs. repressors of exon inclusion. Different types of alternatively spliced events …

Association Of Ubqln1 Mutation With Brown-Vialetto-Van Laere Syndrome But Not Typical Als, Paloma Gonzalez-Perez, Yubing Lu, Ru-Ju Chian, Peter Sapp, Rudolph Tanzi, Lars Bertram, Diane Mckenna-Yasek, Fen-Biao Gao, Robert Brown

Dr Robert Brown

Genetic variants in UBQLN1 gene have been linked to neurodegeneration and mutations in UBQLN2 have recently been identified as a rare cause of amyotrophic lateral sclerosis (ALS). OBJECTIVE: To test if genetic variants in UBQLN1 are involved in ALS. METHODS: 102 and 94 unrelated patients with familial and sporadic forms of ALS were screened for UBQLN1 gene mutations. Single nucleotide variants were further screened in a larger set of sporadic ALS (SALS) patients and unrelated control subjects using high-throughput Taqman genotyping; variants were further assessed for novelty using the 1000Genomes and NHLBI databases. In vitro studies tested the effect of …

Genetic Determinants Of Cerebral Edema In Severe Traumatic Brain Injury: A Pilot Study Of The Role Of Cacna1 And Aqp4 Gene Mutations, Raphael A. Carandang, Susanne Muehlschlegel, Wiley R. Hall, Cynthia Ouillette, Robert H. Brown Jr.

Dr Robert Brown

Cerebral edema is the one of the most significant predictors of poor outcome after traumatic brain injury. It is still unclear what the pathophysiological and cellular mechanisms and predictors of post-traumatic edema are. The exponential growth in genetic information has opened an avenue for investigation in traumatic brain injury and implicated specific genes in the pathophysiology of post-traumatic injury edema. Two examples are the Aquaporin-4 and CACNA1 genes, which respectively encode water and calcium channels. The Aquaporin-4 gene on chromosome 18q11.2-12.1 encodes the Aquaporin-4 protein (AQP4) water channel. AQP4 is one of the bidirectional high capacity water channels that is …

Homologous Recombination Mediates Functional Recovery Of Dysferlin Deficiency Following Aav5 Gene Transfer, William E. Grose, K. Reed Clark, Danielle Griffin, Vinod Malik, Kimberly M. Shontz, Chrystal L. Montgomery, Sarah Lewis, Robert H. Brown Jr., Paul M. L. Janssen, Jerry R. Mendell, Louise R. Rodino-Klapac

Dr Robert Brown

The dysferlinopathies comprise a group of untreatable muscle disorders including limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment syndrome, and rigid spine syndrome. As with other forms of muscular dystrophy, adeno-associated virus (AAV) gene transfer is a particularly auspicious treatment strategy, however the size of the DYSF cDNA (6.5 kb) negates packaging into traditional AAV serotypes known to express well in muscle (i.e. rAAV1, 2, 6, 8, 9). Potential advantages of a full cDNA versus a mini-gene include: maintaining structural-functional protein domains, evading protein misfolding, and avoiding novel epitopes that could be immunogenic. AAV5 has demonstrated unique …

Radiation Therapy Quality In Ccg/Pog Intergroup 9961: Implications For Craniospinal Irradiation And The Posterior Fossa Boost In Future Medulloblastoma Trials, Bernadine Donahue, Mary A.H. Marymont, Sandra Kessel, Matthew K. Iandoli, Thomas Fitzgerald, Emiko Holmes, Mehmet Kocak, James M. Boyett, Amar Gajjar, Roger J. Packer

Neurology Faculty Publications

Purpose: Associations of radiation therapy (RT) deviations and outcomes in medulloblastoma have not been defined well, particularly in the era of reduced-dose craniospinal irradiation and chemotherapy. The aim of this study is to evaluate the quality of RT on Children’s Cancer Group/Pediatric Oncology Group 9961 and analyze associations of RT deviations with outcome.

Materials and Methods: Major volume deviations were assessed based on the distance from specified anatomical region to field edge. We investigated associations of RT deviations with progression-free survival (PFS), overall survival (OS), and explored associations with demographics and clinical variables.

Results: Of the 308 patients who were …

Spectrum Of Acute Clinical Characteristics Of Diagnosed Concussions In College Athletes Wearing Instrumented Helmets, Ann-Christine Duhaime,, Jonathan G. Beckwith, Arthur C. Maerlender, Thomas W. Mcallister, Joseph J. Crisco, Stefan M. Duma, P. Gunnar Brolinson, Steven Rowson, Laura A. Flashman, Jeffrey J. Chu, Richard M. Greenwald

Department of Psychology: Faculty Publications

Object. Concussive head injuries have received much attention in the medical and public arenas, as concerns have been raised about the potential shortand long-term consequences of injuries sustained in sports and other activities. While many student athletes have required evaluation after concussion, the exact definition of concussion has varied among disciplines and over time. The authors used data gathered as part of a multiinstitutional longitudinal study of the biomechanics of head impacts in helmeted collegiate athletes to characterize what signs, symptoms, and clinical histories were used to designate players as having sustained concussions.

Methods. Players on 3 college …

3t Or Not To 3t? Making Sense Of Magnetic Field Strengths In Mr Scanners, Zafar Sajjad

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Survey Of Knowledge, Attitude And Practice Of Epilepsy Among 221 School Teachers In Karachi, Syed Wasim Akhtar, Zarin Mogal, Shaukat Ali, Munawar Ali, Abdul Latif Sonija, Husainuddin Afridi, Hasan Aziz

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Frequency Of Carpal Tunnel Syndrome In Patients Of Diabetic Peripheral Neuropathy, Ahmad Furqan Dr., Naeem Kasuri, Athar Javed, Javed Iqbal, Haroon Khan, Mohsin Zaheer

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Asymtomatic Arachnoid Cyst Presenting With Subdural Hygroma After Cyst Rupture: A Rare Complication, Pari Gul, Bushra Rehan, Saleha Anwar, Ayub Mansoor

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Leukemia With Ptosis, Saira Saad, Mazhar Badshah, Muhammad Tariq, Muhammad Irshad Awan, Sohail Rao, Mansoor Iqbal, Haris Majid Rajput, Zakir Jan

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

A Clinical Approach To Myopathy, Sara Khan

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Prevelacne Of Pressure Ulcers In Patients With Spinal Cord Injury; A Retrospective Study, Aatik Arsh, Haider Darain, Syed Muhammad Ilyas, Amir Zeb

Pakistan Journal of Neurological Sciences (PJNS)

Pressure ulcers in patients with spinal cord injury (SCI) are associated with incredible financial cost and human sufferings. The aim of this retrospective study was to determine prevalence of pressure ulcers amongst patients with different levels of SCI.

Can Telemedicine Improve Stroke Outcomes?, Quratulain Shaikh, Ayeesha Kamran Kamal

Department of Medicine

No abstract provided.

Gene And Stem Cell Therapies For Treating Epilepsy., Janice Naegele, Xu Maisano

Janice R Naegele

No abstract provided.

Metabolic Syndrome And Migraine., Amit Sachdev, Michael J Marmura

Department of Jefferson Headache Center papers and presentations

Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogenesis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and …

Risk Factors Associated With Death In In-Hospital Pediatric Convulsive Status Epilepticus, Tobias Loddenkemper, Tanvir U. Syed, Sriram Ramgopal, Deepak Gulati, Sikawat Thanaviratananich, Sanjeev V. Kothare, Amer Alshekhlee, Mohamad Z. Koubeissi

Neurology Faculty Publications

Objective

To evaluate in-patient mortality and predictors of death associated with convulsive status epilepticus (SE) in a large, multi-center, pediatric cohort.

Patients and Methods

We identified our cohort from the KID Inpatient Database for the years 1997, 2000, 2003 and 2006. We queried the database for convulsive SE, associated diagnoses, and for inpatient death. Univariate logistic testing was used to screen for potential risk factors. These risk factors were then entered into a stepwise backwards conditional multivariable logistic regression procedure. P-values less than 0.05 were taken as significant.

Results

We identified 12,365 (5,541 female) patients with convulsive SE aged …

Validation Of A Novel, Non-Invasive System For Autonomic Profiling In Healthy Volunteers, Agostino Ingraldi, Behzad B. Pavri, Himanshu Patel, Sammy Zakaria, Reginald T. Ho, Arnold J. Greenspon

The Medicine Forum

Noninvasive profiling of the autonomic nervous system has been shown to have prognostic value in patients with myocardial infarction, CHF and diabetes. The ANSAR system (ANX 3.0, Philadelphia, PA) is a new commercially available system that utilizes respiratory rate, HR and BP to assess on-going sympathovagal modulation during various maneuvers known to evoke autonomic perturbations. Instead of using conventional Fast Fourier Transform for frequency domain analysis, a Continuous Wavelet Transform (CWT) is used to generate numerical and graphical data. The system calculates Low Frequency Area (LFA, analogous to LF Power) and Respiratory Frequency Area (RFA, analogous to High Frequency Power.) …

A Case Of Invasive Thymoma, Jon Geddes

The Medicine Forum

A 52 year-old man with a past medical history of an isolated seizure presented to the Veterans Affairs hospital complaining of weakness which was most prominent in the face and upper extremities. About 6 months prior to this admission he developed intermittent episodes of weakness when chewing and swallowing. He would often have to use his hands to close his jaw when eating or talking. He noticed that his voice had developed a nasal quality but he did not have slurred speech. He denied drooling, ptosis, cramping or muscle twitches. He was seen 6 months ago at another VA hospital …

Neurophysiological Impact And Modeling-Independent Elucidation Of Inactivation Pathways In A-Type K+ Channels, J.D. Fineberg, David Ritter, Manuel Covarrubias

Department of Molecular Physiology and Biophysics Faculty Papers

Poster presented at Society for Neuroscience

Abstract:

A-type voltage-gated K⁺ channels auto-regulate their function by undergoing fast inactivation. Independent of molecular mechanisms, this inactivation can proceed after channel opening (open-state inactivation, OSI) or from a closed state prior to opening (closed-state inactivation, CSI). We hypothesize that the specific neurophysiological roles of A-type Kv channels depend on whether they undergo OSI, CSI or both (CSI+OSI). To explore these possibilities, we introduced Markov kinetic schemes of the A-type Kv4 conductance into a computational model of the hippocamcal CA1 neuron assuming either CSI or CSI+OSI and compared the properties of the somatic …

Neuro-Rehabilitation In The Developing World, Nirmal Surya Dr.

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Early Abnormal Sponteneous Activity Findings In Axonal Variant Of Guillain Barre Syndrome: Is This A New Variant Of Guillain Barre Syndrome?, Ghulam Shabbir Dr., Asad Ullah Dr., M.A. Lakhair Dr., Ali Majid Dr., Emran Rashid Dr.

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Acute Quadriparesis Due To Acute Demyelinating Polyneuropathy In A Patient Newly Diagnosed As Acase Of B -Cell Lymphoma- An Unusual Presentation. A Case Report With Review Of Literature, Anjum Akhtar, Sarwar Jamil Siddiqui

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Acute Quadriparesis Due To Acute Demyelinating Polyneuropathy In A Patient Newly Diagnosed As A Case Of B -Cell Lymphoma- An Unusual Presentation. A Case Report With Review Of Literature, Sardar M. Alam, Haroon Khan, Rafi Ud Din, Faiqa Filza, Tariq Khan

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Transfusion Therapy As A Sole Treatment Option In A Thalassemia Patient With Acute Paraplegia – A Case Report And Review Of Literature, Sana Rashid

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

The Evolution Of Cranioplasty: A Review Of Graft Types, Storage Options And Operative Technique, Pooja Kanhya Lal, Muhammad Shahzad Shamim

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Are Robots Any Better In Stroke Rehabilitation?, Muhammad Faisal Wadiwala, Ayeesha Kamran Kamal

Department of Medicine

No abstract provided.

Neurosteroid-Mediated Regulation Of Brain Innate Immunity In Hiv/Aids: Dhea-S Suppresses Neurovirulence, Amber Paul, Ferdinand G. Maingat, Maria J. Polyak, Pornpun Vivithanaporn, Farshid Noorbakhsh, Samir Ahboucha, Glen B. Baker, Keir Pearson, Christopher Power

Publications

Neurosteroids are cholesterol-derived molecules synthesized within the brain, which exert trophic and protective actions. Infection by human and feline immunodeficiency viruses (HIV and FIV, respectively) causes neuroinflammation and neurodegeneration, leading to neurological deficits. Secretion of neuroinflammatory host and viral factors by glia and infiltrating leukocytes mediates the principal neuropathogenic mechanisms during, although the effect of neurosteroids on these processes is unknown. We investigated the interactions between neurosteroid mediated effects and lentivirus infection outcomes. Analyses of HIV-infected uninfected human brains disclosed a reduction in neurosteroid synthesis enzyme expression. Human neurons exposed to supernatants from HIV macrophages exhibited suppressed enzyme expression without …

Pulmonary Complications In Patients With Severe Brain Injury., Kiwon Lee, Fred Rincon

Department of Neurology Faculty Papers

Pulmonary complications are prevalent in the critically ill neurological population. Respiratory failure, pneumonia, acute lung injury and the acute respiratory distress syndrome (ALI/ARDS), pulmonary edema, pulmonary contusions and pneumo/hemothorax, and pulmonary embolism are frequently encountered in the setting of severe brain injury. Direct brain injury, depressed level of consciousness and inability to protect the airway, disruption of natural defense barriers, decreased mobility, and secondary neurological insults inherent to severe brain injury are the main cause of pulmonary complications in critically ill neurological patients. Prevention strategies and current and future therapies need to be implemented to avoid and treat the development …