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https://www.readbyqxmd.com/read/28644430/the-clinical-landscape-for-sma-in-a-new-therapeutic-era
#1
REVIEW
K Talbot, E F Tizzano
Despite significant advances in basic research, the treatment of degenerative diseases of the nervous system remains one of the greatest challenges for translational medicine. The childhood onset motor neuron disorder spinal muscular atrophy (SMA) has been viewed as one of the more tractable targets for molecular therapy, due to a detailed understanding of the molecular genetic basis of the disease. In SMA, inactivating mutations in the SMN1 gene can be partially compensated for by limited expression of SMN protein from a variable number of copies of the SMN2 gene, which provides both a molecular explanation for phenotypic severity and a target for therapy...
June 23, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28644252/antineuroinflammation-of-minocycline-in-stroke
#2
Yi Chen, Zhiyou Cai, Zunyu Ke
Accumulating research substantiates the statement that inflammation plays an important role in the development of stroke. Both proinflammatory and anti-inflammatory mediators are involved in the pathogenesis of stroke, an imbalance of which leads to inflammation. Anti-inflammation is a kind of hopeful strategy for the prevention and treatment of stroke. Substantial studies have demonstrated that minocycline, a second-generation semisynthetic antibiotic belonging to the tetracycline family, can inhibit neuroinflammation, inflammatory mediators and microglia activation, and improve neurological outcome...
July 2017: Neurologist
https://www.readbyqxmd.com/read/28643570/home-based-neurologic-music-therapy-for-arm-hemiparesis-following-stroke-results-from-a-pilot-feasibility-randomized-controlled-trial
#3
Alexander J Street, Wendy L Magee, Andrew Bateman, Michael Parker, Helen Odell-Miller, Jorg Fachner
OBJECTIVE: To assess the feasibility of a randomized controlled trial to evaluate music therapy as a home-based intervention for arm hemiparesis in stroke. DESIGN: A pilot feasibility randomized controlled trial, with cross-over design. Randomization by statistician using computer-generated, random numbers concealed in opaque envelopes. SETTING: Participants' homes across Cambridgeshire, UK. SUBJECTS: Eleven people with stroke and arm hemiparesis, 3-60 months post stroke, following discharge from community rehabilitation...
June 1, 2017: Clinical Rehabilitation
https://www.readbyqxmd.com/read/28643176/a-promising-tool-in-retina-regeneration-current-perspectives-and-challenges-when-using-mesenchymal-progenitor-stem-cells-in-veterinary-and-human-ophthalmological-applications
#4
REVIEW
Anna Cislo-Pakuluk, Krzysztof Marycz
Visual impairment is a common ailment of the current world population, with more exposure to CCD screens and fluorescent lighting, approximately 285 billion people suffer from this deficiency and 13% of those are considered clinically blind. More common causes for visual impairment include age-related macular degeneration (AMD), glaucoma and diabetic retinopathy (Zhu et al. Molecular Medicine Reports, 2015; Kolb et al. 2007; Machalińska et al. Current Eye Research, 34(9),748-760, 2009) among a few. As cases of retinal and optic nerve diseases rise, it is vital to find a treatment, which has led to investigation of the therapeutic potential of various stem cells types (Bull et al...
June 22, 2017: Stem Cell Reviews
https://www.readbyqxmd.com/read/28642940/mass-spectrometry-imaging-for-clinical-research-latest-developments-applications-and-current-limitations
#5
REVIEW
Pierre-Maxence Vaysse, Ron M A Heeren, Tiffany Porta, Benjamin Balluff
Mass spectrometry is being used in many clinical research areas ranging from toxicology to personalized medicine. Of all the mass spectrometry techniques, mass spectrometry imaging (MSI), in particular, has continuously grown towards clinical acceptance. Significant technological and methodological improvements have contributed to enhance the performance of MSI recently, pushing the limits of throughput, spatial resolution, and sensitivity. This has stimulated the spread of MSI usage across various biomedical research areas such as oncology, neurological disorders, cardiology, and rheumatology, just to name a few...
June 23, 2017: Analyst
https://www.readbyqxmd.com/read/28642836/cultural-neuroscience-and-global-mental-health-addressing-grand-challenges
#6
Joan Y Chiao, Shu-Chen Li, Robert Turner, Su Yeon Lee-Tauler, Beverly A Pringle
Mental, neurological and substance-use (MNS) disorders comprise approximately 13% of the global burden of disease. The Grand Challenges in Global Mental Health Initiative has recently identified research priorities for the next decade to address prevention and treatment of MNS disorders. One main research priority is to identify the root causes, risks and protective factors associated with global mental health. Recent advances in cultural neuroscience have identified theoretical, methodological, and empirical methods of identifying biomarkers associated with mental health disorders across nations...
April 2017: Culture and Brain
https://www.readbyqxmd.com/read/28641582/a-multicentre-randomised-controlled-trial-of-levetiracetam-versus-phenytoin-for-convulsive-status-epilepticus-in-children-protocol-convulsive-status-epilepticus-paediatric-trial-consept-a-predict-study
#7
Stuart R Dalziel, Jeremy Furyk, Megan Bonisch, Ed Oakley, Meredith Borland, Jocelyn Neutze, Susan Donath, Cynthia Sharpe, Simon Harvey, Andrew Davidson, Simon Craig, Natalie Phillips, Shane George, Arjun Rao, Nicholas Cheng, Michael Zhang, Kam Sinn, Amit Kochar, Christine Brabyn, Franz E Babl
BACKGROUND: Convulsive status epilepticus (CSE) is the most common life-threatening childhood neurological emergency. Despite this, there is a lack of high quality evidence supporting medication use after first line benzodiazepines, with current treatment protocols based solely on non-experimental evidence and expert opinion. The current standard of care, phenytoin, is only 60% effective, and associated with considerable adverse effects. A newer anti-convulsant, levetiracetam, can be given faster, is potentially more efficacious, with a more tolerable side effect profile...
June 22, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28641304/hyperemesis-gravidarum-a-review-of-recent-literature
#8
Viktoriya London, Stephanie Grube, David M Sherer, Ovadia Abulafia
BACKGROUND: In the United States, hyperemesis gravidarum is the most common cause of hospitalization during the first half of pregnancy and is second only to preterm labor for hospitalizations in pregnancy overall. In approximately 0.3-3% of pregnancies, hyperemesis gravidarum is prevalent and this percentage varies on account of different diagnostic criteria and ethnic variation in study populations. Despite extensive research in this field, the mechanism of the disease is largely unknown...
June 23, 2017: Pharmacology
https://www.readbyqxmd.com/read/28640803/brain-network-eigenmodes-provide-a-robust-and-compact-representation-of-the-structural-connectome-in-health-and-disease
#9
Maxwell B Wang, Julia P Owen, Pratik Mukherjee, Ashish Raj
Recent research has demonstrated the use of the structural connectome as a powerful tool to characterize the network architecture of the brain and potentially generate biomarkers for neurologic and psychiatric disorders. In particular, the anatomic embedding of the edges of the cerebral graph have been postulated to elucidate the relative importance of white matter tracts to the overall network connectivity, explaining the varying effects of localized white matter pathology on cognition and behavior. Here, we demonstrate the use of a linear diffusion model to quantify the impact of these perturbations on brain connectivity...
June 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28639937/a-multicentre-randomised-controlled-trial-of-intravenous-immunoglobulin-compared-with-standard-therapy-for-the-treatment-of-transverse-myelitis-in-adults-and-children-strive
#10
Michael Absoud, Peter Brex, Olga Ciccarelli, Onyinye Diribe, Gavin Giovannoni, Jennifer Hellier, Rosemary Howe, Rachel Holland, Joanna Kelly, Paul McCrone, Caroline Murphy, Jackie Palace, Andrew Pickles, Michael Pike, Neil Robertson, Anu Jacob, Ming Lim
BACKGROUND: Transverse myelitis (TM) is an immune-mediated disorder of the spinal cord that affects adults and children and that causes motor, sensory and autonomic dysfunction. There is a prolonged recovery phase, which may continue for many years. Neuromyelitis optica (NMO) is an uncommon relapsing inflammatory central nervous system condition in which TM can be the first presenting symptom. As TM and NMO affect many patients in the prime of their working life, the disorder can impose a significant demand on health resources...
May 2017: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/28639535/corrigendum
#11
(no author information available yet)
Cawley N, Tur C, Prados F, et al. Spinal cord atrophy as a primary outcome measure in phase II trials of progressive multiple sclerosis. Mult Scler. Epub ahead of print 18 May 2017. DOI: 10.1177/1352458517709954. On page 9 of this article, the Declaration of Conflicting Interests and Funding statements were incorrect. The correct declarations are shown below. Declaration of Conflicting Interests The author(s) declared the following potential conflicts of interest with respect to the research, authorship and/or publication of this article: A...
June 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28638579/non-st-elevation-myocardial-infarction-secondary-to-carbon-monoxide-intoxication
#12
Danuta Jankowska, Venkataraman Palabindala, Sohail Abdul Salim
Carbon monoxide poisoning has been documented in literature to cause severe neurological and tissue toxicity within the body. However, cardiotoxicity is often overlooked, but not uncommon. Previous research studies and case reports have revealed a significant relationship between carbon monoxide intoxication and myocardial ischemic events. We report a case of a 48-year-old male, who was exposed to severe smoke inhalation due to a house fire and subsequently developed a non-ST elevation myocardial infarction...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28637739/intrathecal-baclofen-therapy-in-paediatrics-a-study-protocol-for-an-australian-multicentre-10-year-prospective-audit
#13
Kirsty Stewart, Gavin Hutana, Megan Kentish
INTRODUCTION: Increasing clinical use of Intrathecal baclofen (ITB) in Australian tertiary paediatric hospitals, along with the need for standardised assessment and reporting of adverse events, saw the formation of the Australian Paediatric ITB Research Group (APIRG). APIRG developed a National ITB Audit tool designed to capture clinical outcomes and adverse events data for all Australian children and adolescents receiving ITB therapy. METHODS AND ANALYSIS: The Australian ITB Audit is a 10 year, longitudinal, prospective, clinical audit collecting all adverse events and assessment data across body functions and structure, participation and activity level domains of the ICF...
June 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/28637152/how-physical-therapists-instruct-patients-with-stroke-an-observational-study-on-attentional-focus-during-gait-rehabilitation-after-stroke
#14
Elmar Kal, Henrieke van den Brink, Han Houdijk, John van der Kamp, Paulien Helena Goossens, Coen van Bennekom, Erik Scherder
PURPOSE: People without neurological impairments show superior motor learning when they focus on movement effects (external focus) rather than on movement execution itself (internal focus). Despite its potential for neurorehabilitation, it remains unclear to what extent external focus strategies are currently incorporated in rehabilitation post-stroke. Therefore, we observed how physical therapists use attentional focus when treating gait of rehabilitating patients with stroke. METHODS: Twenty physical therapist-patient couples from six rehabilitation centers participated...
February 24, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28636480/the-emerging-role-of-pimavanserin-in-the-management-of-parkinson-s-disease-psychosis
#15
Neal Hermanowicz, Gustavo Alva, Fernando Pagan, Alberto J Espay, Amita Patel, Katya Cruz Madrid, Daniel Kremens, Jim Kenney, Sheila Arquette, Gary Tereso, Maria Lopes, Carolyn Farnum
A panel of experts drawn from neurology, psychiatry, geropsychiatry, geriatrics, and pharmacy representatives of 3 health plans convened in New York City on July 30, 2016, with the objective of sharing opinions, ideas, and information regarding the optimal management of Parkinson's disease psychosis (PDP). Three key points emerged from the discussion: (1) Because of the nature of Parkinson's disease and PDP, finding appropriate treatment can prove challenging; (2) emerging therapies may present an opportunity for effective disease management; and (3) moving forward, provider and patient education regarding PDP and available treatment options is essential for well-managed symptoms and better quality of life...
June 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28635538/clomipramine-trial-for-treatment-resistant-persistent-genital-arousal-disorder-a-case-series
#16
Ejder Akgun Yildirim, Munevver Hacioglu Yildirim, Elif Carpar, Irmak Sarac
INTRODUCTION: Treatment of persistent genital arousal disorder (PGAD), as a chronic and disabling condition, implicates substantial compelling complexities. METHODS: In this case series, seven women diagnosed with PGAD who were referred to the Sexual Dysfunction Unit of Psychotherapy Outpatient Clinic of Bakirkoy Research and Training Hospital for Psychiatry, Neurology, and Neurosurgery, Istanbul, Turkey between 2006 and 2009 were included. All patients were previously resistant to other antidepressants, antipsychotics and antiepileptics...
March 3, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28635420/the-most-common-comorbidities-in-dandy-walker-syndrome-patients-a-systematic-review-of-case-reports
#17
Emelina Stambolliu, Myrsini Ioakeim-Ioannidou, Kimonas Kontokostas, Maria Dakoutrou, Antonis A Kousoulis
OBJECTIVE: Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities. METHODS: Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Age, sex, country, DWS type, consanguinity or siblings with DWS, and recorded coexistent conditions (by ICD10 category) were extracted for 187 patients (46.5% male, 43% from Asia) from 168 case reports. RESULTS: Diagnosis was most often set in <1 year old (40...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28634886/subcortical-brain-atrophy-in-gulf-war-illness
#18
Peka Christova, Lisa M James, Brian E Engdahl, Scott M Lewis, Adam F Carpenter, Apostolos P Georgopoulos
Gulf War Illness (GWI) is a multisystem disorder that has affected a substantial number of veterans who served in the 1990-1991 Gulf War. The brain is prominently affected, as manifested by the presence of neurological, cognitive and mood symptoms. Although brain dysfunction in GWI has been well documented (EBioMedicine 12:127-32, 2016), abnormalities in brain structure have been debated. Here we report a substantial (~10%) subcortical brain atrophy in GWI comprising mainly the brainstem, cerebellum and thalamus, and, to a lesser extent, basal ganglia, amygdala and diencephalon...
June 20, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28634449/electromyography-data-processing-impacts-muscle-synergies-during-gait-for-unimpaired-children-and-children-with-cerebral-palsy
#19
Benjamin R Shuman, Michael H Schwartz, Katherine M Steele
Muscle synergies calculated from electromyography (EMG) data identify weighted groups of muscles activated together during functional tasks. Research has shown that fewer synergies are required to describe EMG data of individuals with neurologic impairments. When considering potential clinical applications of synergies, understanding how EMG data processing impacts results and clinical interpretation is important. The aim of this study was to evaluate how EMG signal processing impacts synergy outputs during gait...
2017: Frontiers in Computational Neuroscience
https://www.readbyqxmd.com/read/28633725/well-differentiated-neuroendocrine-tumor-a-low-b-grade-tumor-s-aggressive-course-and-dismal-outcome-a-case-report
#20
Dinesh Atwal, Krishna Prasad Joshi, Susanne Jeffus, James Ntambi, Fade Mahmoud
INTRODUCTION: Incidence of well-differentiated neuroendocrine tumors (NETs) of the colon and rectum is increasing and is now approximately 1 per 100,000 in the US. NETs are either well-differentiated (indolent) or poorly differentiated (aggressive). The majority of these tumors are found incidentally during screening colonoscopies and rarely are associated with symptoms of hormonal syndrome, even during the advanced stage. Metastatic well-differentiated NETs of the colon and rectum are incurable, hard to treat, and associated with a poor prognosis and survival rates similar to colorectal adenocarcinoma survival...
2017: Permanente Journal
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