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journal of neurology

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https://www.readbyqxmd.com/read/28320798/interventions-to-improve-the-self-management-support-health-professionals-provide-for-people-with-progressive-neurological-conditions-protocol-for-a-realist-synthesis
#1
Freya Davies, Fiona Wood, Alison Bullock, Carolyn Wallace, Adrian Edwards
INTRODUCTION: Supporting self-management among people with long-term conditions is recognised as an important component of healthcare. Progressive neurological conditions (PNCs), for example, Parkinson's disease and multiple sclerosis are associated with problems such as fatigue and cognitive impairment which may make self-management more challenging. Health professionals may need to develop specific skills in order to provide effective self-management support for these patients. The review aims to develop explanatory theories about how health professional-targeted interventions to improve self-management support provision for people with PNCs operate in different circumstances...
March 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28301775/the-microbiome-and-host-behavior
#2
Helen E Vuong, Jessica M Yano, Thomas C Fung, Elaine Y Hsiao
The microbiota is increasingly recognized for its ability to influence the development and function of the nervous system and several complex host behaviors. In this review, we discuss emerging roles for the gut microbiota in modulating host social and communicative behavior, stressor-induced behavior, and performance in learning and memory tasks. We summarize effects of the microbiota on host neurophysiology, including brain microstructure, gene expression, and neurochemical metabolism across regions of the amygdala, hippocampus, frontal cortex, and hypothalamus...
March 8, 2017: Annual Review of Neuroscience
https://www.readbyqxmd.com/read/28301770/imaging-and-optically-manipulating-neuronal-ensembles
#3
Luis Carrillo-Reid, Weijian Yang, Jae-Eun Kang Miller, Darcy S Peterka, Rafael Yuste
The neural code that relates the firing of neurons to the generation of behavior and mental states must be implemented by spatiotemporal patterns of activity across neuronal populations. These patterns engage selective groups of neurons, called neuronal ensembles, which are emergent building blocks of neural circuits. We review optical and computational methods, based on two-photon calcium imaging and two-photon optogenetics, to detect, characterize, and manipulate neuronal ensembles in three dimensions. We review data using these methods in the mammalian cortex that demonstrate the existence of neuronal ensembles in the spontaneous and evoked cortical activity in vitro and in vivo...
March 15, 2017: Annual Review of Biophysics
https://www.readbyqxmd.com/read/28298626/gain-of-function-mutation-p-arg225cys-in-scn11a-causes-familial-episodic-pain-and-contributes-to-essential-tremor
#4
Xue-Rong Leng, Xiao-Hong Qi, Yong-Tao Zhou, Yu-Ping Wang
Familial episodic pain is a rare autosomal-dominant disorder characterized by recurrent attacks of pain. The pathogenesis of familial episodic pain is not very clear so far. Essential tremor is the most common movement disorder, but the identification of essential tremor genes has remained elusive. We studied a four-generation Chinese family with early-onset familial episodic pain and adult onset familial essential tremor. All essential tremor diagnoses were confirmed based on a review of the questionnaires, videotaped neurological examinations and was then reconfirmed by a senior neurologist specializing in movement disorders using published criteria...
March 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28295037/a-mutation-in-the-tmem65-gene-results-in-mitochondrial-myopathy-with-severe-neurological-manifestations
#5
Aisha Nazli, Adeel Safdar, Ayesha Saleem, Mahmood Akhtar, Lauren I Brady, Jeremy Schwartzentruber, Mark A Tarnopolsky
Recent research has suggested that transmembrane protein 65 (TMEM65) is localized within the inner mitochondrial membrane. Little else is known about its function. In this study we investigated the location and function of TMEM65. Further, we report the functional consequences of a novel homozygous splice variant (c.472+1G>A) in the TMEM65 gene in a patient with mitochondrial encephalomyopathy. Here we investigated the location of TMEM65 by immunofluorescence staining of the protein and by immunoblotting of the isolated mitochondrial fractions in healthy fibroblasts and those from the patient...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28290379/deep-tendon-reflex-the-background-story-of-a-simple-technique
#6
Kalyan B Bhattacharyya
Wilhelm Erb and Carl Otto Westphal from Prussia first described the knee jerk in the same issue of the journal Archiv für Psychiatrie und Nervenkrankheiten in January 1875. This article retraces the history of development of 'deep tendon reflex' as an integral clinical sign during every neurological examination. The history of the evolving shapes of the reflex hammer, the iconic trademark and the ultimate signature of a neuroscientist, is also presented.
March 2017: Neurology India
https://www.readbyqxmd.com/read/28287673/a-nurse-led-telehealth-program-to-improve-emotional-health-in-individuals-with-multiple-sclerosis
#7
Kiira Maureen Tietjen, Susan Breitenstein
Individuals with multiple sclerosis (MS) have many barriers to health care and participate in less health promotion activities than the general population. The current feasibility project was a trial implementation of an existing telehealth promotion program within a community neurology clinic with a single MS provider. The program comprised an initial face-to-face meeting followed by five scheduled telephone calls over a 12-week period. Progress was facilitated through motivational interviewing techniques and performed by a MS-certified nurse working as a nurse navigator in the clinic...
March 1, 2017: Journal of Psychosocial Nursing and Mental Health Services
https://www.readbyqxmd.com/read/28277490/erythropoietin-monotherapy-in-perinatal-asphyxia-with-moderate-to-severe-encephalopathy-a-randomized-placebo-controlled-trial
#8
R R Malla, R Asimi, M A Teli, F Shaheen, M A Bhat
OBJECTIVE: Erythropoietin (EPO) is neuroprotective after asphyxia in animal studies. The efficacy and safety of EPO monotherapy in term neonates with hypoxic ischemic encephalopathy (HIE) is uncertain. STUDY DESIGN: Hundred term neonates with moderate or severe HIE were randomized by random permuted block algorithm to receive either EPO 500 U kg(-1) per dose in 2 ml saline intravenously (50 neonates) on alternate days for a total of five doses with the first dose given by 6 h of age (treatment group) or 2 ml of normal saline (50 neonates) similarly for a total of five doses (placebo group) in a double-blind study...
March 9, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28277415/mortality-risk-stratification-after-traumatic-brain-injury-and-hazard-of-death-with-titrated-hypothermia-in-the-eurotherm3235trial
#9
Peter J D Andrews, Aryelly Rodriguez, Peter Suter, Claire G Battison, Jonathan K J Rhodes, Irene Puddu, Bridget A Harris
OBJECTIVES: Hypothermia reduces intracranial hypertension in patients with traumatic brain injury but was associated with harm in the Eurotherm3235Trial. We stratified trial patients by International Mission for Prognosis and Analysis of Clinical Trials in [Traumatic Brain Injury] (IMPACT) extended model sum scores to determine where the balance of risks lay with the intervention. DESIGN: The Eurotherm3235Trial was a randomized controlled trial, with standardized and blinded outcome assessment...
March 8, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28272532/trna-n6-adenosine-threonylcarbamoyltransferase-defect-due-to-kae1-tcs3-osgep-mutation-manifest-by-neurodegeneration-and-renal-tubulopathy
#10
Simon Edvardson, Laurence Prunetti, Aiman Arraf, Drago Haas, Jo Marie Bacusmo, Jennifer F Hu, Asas Ta-Shma, Peter C Dedon, Valérie de Crécy-Lagard, Orly Elpeleg
Post-transcriptional tRNA modifications are numerous and require a large set of highly conserved enzymes in humans and other organisms. In yeast, the loss of many modifications is tolerated under unstressed conditions; one exception is the N(6)-threonyl-carbamoyl-adenosine (t(6)A) modification, loss of which causes a severe growth phenotype. Here we aimed at a molecular diagnosis in a brother and sister from a consanguineous family who presented with global developmental delay, failure to thrive and a renal defect manifesting in proteinuria and hypomagnesemia...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28252658/prognostic-neurodevelopmental-testing-of-preterm-infants-do-we-need-to-change-the-paradigm
#11
H W Kilbride, G P Aylward, L W Doyle, L T Singer, J Lantos
Longitudinal follow-up with assessment of developmental status at about 2 years of age is routine for high-risk newborns. The results of these assessments can be used for many purposes, including helping physicians, parents, and teachers plan educational or developmental interventions. These assessments also provide outcome measures for clinical research studies. Outcome results may also serve as a source of information for clinicians when counseling parents regarding provision of care for extreme preterm infants...
March 2, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28250421/ankrd11-variants-cause-variable-clinical-features-associated-with-kbg-syndrome-and-coffin-siris-like-syndrome
#12
Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto
KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin-Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms...
March 2, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28242594/public-funding-and-open-access-to-research-a-review-of-canadian-multiple-sclerosis-research
#13
Caitlin Bakker, Carol Stephenson, Erin Stephenson, Debbie Chaves
BACKGROUND: Multiple sclerosis (MS), a progressive demyelinating disease of the brain and spinal cord, is the leading cause of nontraumatic neurological damage in young adults. Canada has one of the highest reported incidents of MS, with estimates between 55 and 240 per 100,000 individuals. Between 2009 and 2014, the MS Society of Canada provided over Can $90 million to researchers and, since 2013, has encouraged researchers to make both current and previous research products openly available...
February 27, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28240353/carbamazepine-versus-phenytoin-monotherapy-for-epilepsy-an-individual-participant-data-review
#14
REVIEW
Sarah J Nevitt, Anthony G Marson, Jennifer Weston, Catrin Tudur Smith
BACKGROUND: This is an updated version of the original Cochrane Review published in Issue 2, 2002 and its subsequent updates in 2010 and 2015.Epilepsy is a common neurological condition in which recurrent, unprovoked seizures are caused by abnormal electrical discharges from the brain. It is believed that with effective drug treatment, up to 70% of individuals with active epilepsy have the potential to become seizure-free and go into long-term remission shortly after starting drug therapy with a single antiepileptic drug in monotherapy...
February 27, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28235778/clinical-evoked-potentials-in-neurology-a-review-of-techniques-and-indications
#15
REVIEW
Agustina M Lascano, Patrice H Lalive, Martin Hardmeier, Peter Fuhr, Margitta Seeck
Evoked potentials (EPs) are a powerful and cost-effective tool for evaluating the integrity and function of the central nervous system. Although imaging techniques, such as MRI, have recently become increasingly important in the diagnosis of neurological diseases, over the past 30 years, many neurologists have continued to employ EPs in specific clinical applications. This review presents an overview of the recent evolution of 'classical' clinical applications of EPs in terms of early diagnosis and disease monitoring and is an extension of a previous review published in this journal in 2005 by Walsh and collaborators...
February 24, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28228639/grin1-mutation-associated-with-intellectual-disability-alters-nmda-receptor-trafficking-and-function
#16
Wenjuan Chen, Christine Shieh, Sharon A Swanger, Anel Tankovic, Margaret Au, Marianne McGuire, Michele Tagliati, John M Graham, Suneeta Madan-Khetarpal, Stephen F Traynelis, Hongjie Yuan, Tyler Mark Pierson
N-methyl-d-aspartate receptors (NMDARs) play important roles in brain development and neurological disease. We report two individuals with similar dominant de novo GRIN1 mutations (c.1858 G>A and c.1858 G>C; both p.G620R). Both individuals presented at birth with developmental delay and hypotonia associated with behavioral abnormalities and stereotypical movements. Recombinant NMDARs containing the mutant GluN1-G620R together with either GluN2A or GluN2B were evaluated for changes in their trafficking to the plasma membrane and their electrophysiological properties...
February 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28228565/a-dedicated-scholarly-research-program-in-an-adult-and-pediatric-neurology-residency-program
#17
Matthew S Robbins, Sheryl R Haut, Richard B Lipton, Mark J Milstein, Lenore C Ocava, Karen Ballaban-Gil, Solomon L Moshé, Mark F Mehler
OBJECTIVE: To describe and assess the effectiveness of a formal scholarly activity program for a highly integrated adult and pediatric neurology residency program. METHODS: Starting in 2011, all graduating residents were required to complete at least one form of scholarly activity broadly defined to include peer-reviewed publications or presentations at scientific meetings of formally mentored projects. The scholarly activity program was administered by the associate residency training director and included an expanded journal club, guided mentorship, a required grand rounds platform presentation, and annual awards for the most scholarly and seminal research findings...
February 22, 2017: Neurology
https://www.readbyqxmd.com/read/28225050/impact-of-baseline-vitamin-b12-status-on-the-effect-of-vitamin-b12-supplementation-on-neurologic-function-in-older-people-secondary-analysis-of-data-from-the-open-randomised-controlled-trial
#18
L M Miles, E Allen, R Clarke, K Mills, R Uauy, A D Dangour
BACKGROUND/OBJECTIVES: The available evidence from randomised controlled trials suggests that vitamin B12 supplementation does not improve neurologic function in older people with marginal but not deficient Vitamin B12 status. This secondary analysis used data from the Older People and Enhanced Neurological function (OPEN) randomised controlled trial to assess whether baseline vitamin B12 status or change in vitamin B12 status over 12 months altered the effectiveness of dietary vitamin B12 supplementation on neurologic function in asymptomatic older people with depleted vitamin B12 status at study entry...
February 22, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28222122/poor-replication-validity-of-biomedical-association-studies-reported-by-newspapers
#19
Estelle Dumas-Mallet, Andy Smith, Thomas Boraud, François Gonon
OBJECTIVE: To investigate the replication validity of biomedical association studies covered by newspapers. METHODS: We used a database of 4723 primary studies included in 306 meta-analysis articles. These studies associated a risk factor with a disease in three biomedical domains, psychiatry, neurology and four somatic diseases. They were classified into a lifestyle category (e.g. smoking) and a non-lifestyle category (e.g. genetic risk). Using the database Dow Jones Factiva, we investigated the newspaper coverage of each study...
2017: PloS One
https://www.readbyqxmd.com/read/28221185/antipyretic-therapy-in-critically-ill-septic-patients-a-systematic-review-and-meta-analysis
#20
Anne M Drewry, Enyo A Ablordeppey, Ellen T Murray, Carolyn R T Stoll, Sonya R Izadi, Catherine M Dalton, Angela C Hardi, Susan A Fowler, Brian M Fuller, Graham A Colditz
OBJECTIVE: This meta-analysis aimed to examine the impact of antipyretic therapy on mortality in critically ill septic adults. DATA SOURCES: Literature searches were implemented in Ovid Medline, Embase, Scopus, Cumulative Index of Nursing and Allied Health Literature, Cochrane Central Register of Controlled Trials, NHS Economic Evaluation Database, and ClinicalTrials.gov through February 2016. STUDY SELECTION: Inclusion criteria were observational or randomized studies of septic patients, evaluation of antipyretic treatment, mortality reported, and English-language version available...
February 17, 2017: Critical Care Medicine
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