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https://www.readbyqxmd.com/read/28335037/lrsam1-mediated-ubiquitylation-is-disrupted-in-axonal-charcot-marie-tooth-disease-2p
#1
Johanna E Hakonen, Vincenzo Sorrentino, Rossella Avagliano Trezza, Marit B de Wissel, Marlene van den Berg, Boris Bleijlevens, Fred van Ruissen, Ben Distel, Frank Baas, Noam Zelcer, Marian A J Weterman
Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift mutation in the RING domain of LRSAM1 (c.2121_2122dup, p.Leu708Argfs) that encodes an E3 ubiquitin ligase, as the cause of axonal type CMT (CMT2P). However, the frequency of LRSAM1 mutations in CMT2 and the functional basis for their association with disease remains unknown. In this study we evaluated LRSAM1 mutations in two large Dutch cohorts...
March 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28335000/better-than-sham-a-double-blind-placebo-controlled-neurofeedback-study-in-primary-insomnia
#2
Manuel Schabus, Hermann Griessenberger, Maria-Teresa Gnjezda, Dominik P J Heib, Malgorzata Wislowska, Kerstin Hoedlmoser
Neurofeedback training builds upon the simple concept of instrumental conditioning, i.e. behaviour that is rewarded is more likely to reoccur, an effect Thorndike referred to as the 'law of effect'. In the case of neurofeedback, information about specific electroencephalographic activity is fed back to the participant who is rewarded whenever the desired electroencephalography pattern is generated. If some kind of hyperarousal needs to be addressed, the neurofeedback community considers sensorimotor rhythm neurofeedback as the gold standard...
February 23, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334943/effects-of-prefrontal-cortex-damage-on-emotion-understanding-eeg-and-behavioural-evidence
#3
Anat Perry, Samantha N Saunders, Jennifer Stiso, Callum Dewar, Jamie Lubell, Torstein R Meling, Anne-Kristin Solbakk, Tor Endestad, Robert T Knight
Humans are highly social beings that interact with each other on a daily basis. In these complex interactions, we get along by being able to identify others' actions and infer their intentions, thoughts and feelings. One of the major theories accounting for this critical ability assumes that the understanding of social signals is based on a primordial tendency to simulate observed actions by activating a mirror neuron system. If mirror neuron regions are important for action and emotion recognition, damage to regions in this network should lead to deficits in these domains...
February 22, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334882/decreased-integration-and-information-capacity-in-stroke-measured-by-whole-brain-models-of-resting-state-activity
#4
Mohit H Adhikari, Carl D Hacker, Josh S Siegel, Alessandra Griffa, Patric Hagmann, Gustavo Deco, Maurizio Corbetta
While several studies have shown that focal lesions affect the communication between structurally normal regions of the brain, and that these changes may correlate with behavioural deficits, their impact on brain's information processing capacity is currently unknown. Here we test the hypothesis that focal lesions decrease the brain's information processing capacity, of which changes in functional connectivity may be a measurable correlate. To measure processing capacity, we turned to whole brain computational modelling to estimate the integration and segregation of information in brain networks...
February 20, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334687/neurocognitive-status-in-patients-with-newly-diagnosed-brain-tumors-in-good-neurological-condition-the-impact-of-tumor-type-volume-and-location
#5
Philipp Hendrix, Elisa Hans, Christoph J Griessenauer, Andreas Simgen, Joachim Oertel, Julia Karbach
OBJECTIVE: Neurocognitive function is of great importance in patients with brain tumors. Even patients in good neurological condition may suffer from neurocognitive dysfunction that affects their daily living. The purpose of the present study was to identify risk factors for neurocognitive dysfunction in patients suffering from common supratentorial brain tumors with minor neurological deficits. METHODS: A prospective study evaluating neurocognitive dysfunction in patients with a newly-diagnosed brain tumor in good neurological condition was performed at a major German academic institution...
March 18, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28334559/design-and-hospitalwide-implementation-of-a-standardized-discharge-summary-in-an-electronic-health-record
#6
Shannon M Dean, Andrea Gilmore-Bykovskyi, Joel Buchanan, Brad Ehlenfeldt, Amy J H Kind
BACKGROUND: The hospital discharge summary is the primary method used to communicate a patient's plan of care to the next provider(s). Despite the existence of regulations and guidelines outlining the optimal content for the discharge summary and its importance in facilitating an effective transition to posthospital care, incomplete discharge summaries remain a common problem that may contribute to poor posthospital outcomes. Electronic health records (EHRs) are regularly used as a platform on which standardization of content and format can be implemented...
December 2016: Joint Commission Journal on Quality and Patient Safety
https://www.readbyqxmd.com/read/28334382/concussion-like-symptom-reporting-in-non-concussed-collegiate-athletes
#7
Breton M Asken, Aliyah R Snyder, James R Clugston, Leslie S Gaynor, Molly J Sullan, Russell M Bauer
Objective: Non-concussed individuals may report a variety of concussion-like symptoms even in the absence of a diagnosed brain injury. Previous studies described concussion-like symptom reporting in adolescent athletes. This study provides complementary data on concussion-like symptoms in collegiate athletes. Methods: We analyzed baseline symptom scales from 738 collegiate athletes (452 men and 286 women) who completed either the Sport Concussion Assessment Tool, 3 Symptom Evaluation (S3SE; n = 377) or the Post-Concussion Scale (PCS; n = 361) and determined if subjects met criteria for diagnosis of International Classification of Diseases 10th Revision (ICD-10) postconcussional syndrome...
March 10, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28334281/blocking-c-fos-expression-reveals-the-role-of-auditory-cortex-plasticity-in-sound-frequency-discrimination-learning
#8
Livia de Hoz, Dorota Gierej, Victoria Lioudyno, Jacek Jaworski, Magda Blazejczyk, Hugo Cruces-Solís, Anna Beroun, Tomasz Lebitko, Tomasz Nikolaev, Ewelina Knapska, Israel Nelken, Leszek Kaczmarek
The behavioral changes that comprise operant learning are associated with plasticity in early sensory cortices as well as with modulation of gene expression, but the connection between the behavioral, electrophysiological, and molecular changes is only partially understood. We specifically manipulated c-Fos expression, a hallmark of learning-induced synaptic plasticity, in auditory cortex of adult mice using a novel approach based on RNA interference. Locally blocking c-Fos expression caused a specific behavioral deficit in a sound discrimination task, in parallel with decreased cortical experience-dependent plasticity, without affecting baseline excitability or basic auditory processing...
March 17, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28333894/m-s-smart-system-contrast-sensitivity-measurements-compared-with-standard-visual-function-measurements-in-primary-open-angle-glaucoma-patients
#9
Jessica L Liu, J Jason McAnany, Jacob T Wilensky, Ahmad A Aref, Thasarat S Vajaranant
PURPOSE: To evaluate the nature and extent of letter contrast sensitivity (CS) deficits in glaucoma patients using a commercially available computer-based system (M&S Smart System II) and to compare the letter CS measurements to standard clinical measures of visual function. METHODS: Ninety-four subjects with primary open-angle glaucoma participated. Each subject underwent visual acuity, letter CS, and standard automated perimetry testing (Humphrey SITA 24-2). All subjects had a best-corrected visual acuity (BCVA) of 0...
March 22, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28333590/mean-first-passage-memory-lifetimes-by-reducing-complex-synapses-to-simple-synapses
#10
Terry Elliott
Memory models that store new memories by forgetting old ones have memory lifetimes that are rather short and grow only logarithmically in the number of synapses. Attempts to overcome these deficits include "complex" models of synaptic plasticity in which synapses possess internal states governing the expression of synaptic plasticity. Integrate-and-express, filter-based models of synaptic plasticity propose that synapses act as low-pass filters, integrating plasticity induction signals before expressing synaptic plasticity...
March 23, 2017: Neural Computation
https://www.readbyqxmd.com/read/28333097/effects-of-a-sativex-like-combination-of-phytocannabinoids-on-disease-progression-in-r6-2-mice-an-experimental-model-of-huntington-s-disease
#11
Sara Valdeolivas, Onintza Sagredo, Mercedes Delgado, Miguel A Pozo, Javier Fernández-Ruiz
Several cannabinoids afforded neuroprotection in experimental models of Huntington's disease (HD). We investigated whether a 1:1 combination of botanical extracts enriched in either ∆⁸-tetrahydrocannabinol (∆⁸-THC) or cannabidiol (CBD), which are the main constituents of the cannabis-based medicine Sativex(®), is beneficial in R6/2 mice (a transgenic model of HD), as it was previously shown to have positive effects in neurotoxin-based models of HD. We recorded the progression of neurological deficits and the extent of striatal deterioration, using behavioral, in vivo imaging, and biochemical methods in R6/2 mice and their corresponding wild-type mice...
March 23, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28332424/neuroprotective-effect-of-dl-3-n-butylphthalide-on-patients-with-radiation-induced-brain-injury-a-clinical-retrospective-cohort-study
#12
Xiaoni Zhang, Yi Li, Xiangpen Li, Xiaoming Rong, Yamei Tang, Ying Peng
PURPOSE: To evaluate the neuroprotective effects of Dl-3-n-butylphthalide (NBP) on patients with radiation-induced brain injury, a hospital-based, clinical retrospective cohort study was conducted. PATIENTS AND METHODS: Data was collected on patients diagnosed with radiation-induced brain injury from January 2009 to January 2015 in Department of Neurology, Sun Yat-Sen Memorial Hospital. All patients enrolled have received cranial radiotherapy and were diagnosed with radiation-induced brain injury...
March 23, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28332277/sequencing-of-sporadic-attention-deficit-hyperactivity-disorder-adhd-identifies-novel-and-potentially-pathogenic-de-novo-variants-and-excludes-overlap-with-genes-associated-with-autism-spectrum-disorder
#13
Daniel Seung Kim, Amber A Burt, Jane E Ranchalis, Beth Wilmot, Joshua D Smith, Karynne E Patterson, Bradley P Coe, Yatong K Li, Michael J Bamshad, Molly Nikolas, Evan E Eichler, James M Swanson, Joel T Nigg, Deborah A Nickerson, Gail P Jarvik
Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for <5% of ADHD variance. Using data from affected participants without a family history of ADHD, we sought to identify de novo variants that could account for sporadic ADHD. Considering a total of 128 families, two analyses were conducted in parallel: first, in 11 unaffected parent/affected proband trios (or quads with the addition of an unaffected sibling) we completed exome sequencing. Six de novo missense variants at highly conserved bases were identified and validated from four of the 11 families: the brain-expressed genes TBC1D9, DAGLA, QARS, CSMD2, TRPM2, and WDR83...
March 22, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28332006/prenatal-nicotine-exposure-decreases-the-release-of-dopamine-in-the-medial-frontal-cortex-and-induces-atomoxetine-responsive-neurobehavioral-deficits-in-mice
#14
Tursun Alkam, Takayoshi Mamiya, Nami Kimura, Aya Yoshida, Daisuke Kihara, Yuki Tsunoda, Yuki Aoyama, Masayuki Hiramatsu, Hyoung-Chun Kim, Toshitaka Nabeshima
Increased risk of attention-deficit/hyperactivity disorder (AD/HD) is partly associated with the early developmental exposure to nicotine in tobacco smoke. Emerging reports link tobacco smoke exposure or prenatal nicotine exposure (PNE) with AD/HD-like behaviors in rodent models. We have previously reported that PNE induces cognitive behavioral deficits in offspring and decreases the contents of dopamine (DA) and its turnover in the prefrontal cortex (PFC) of offspring It is well known that the dysfunction of DAergic system in the brain is one of the core factors in the pathophysiology of AD/HD...
March 23, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/28331638/effect-on-gait-speed-balance-motor-symptom-rating-and-quality-of-life-in-those-with-stage-i-parkinson-s-disease-utilizing-lsvt-big%C3%A2
#15
Beth Millage, Erin Vesey, Marsha Finkelstein, Mattie Anheluk
Individuals with Parkinson's Disease (PD) are often not referred to Physical Therapy (PT) until there are issues with mobility in later Hoehn and Yahr Stages. There have been no studies outlining the benefits of PT intervention in Stage I only. For persons with PD, deficits in motor function increase over time due to destruction of dopamine-producing cells. LSVT BIG, an exercise program for PD, has been shown to be effective in improving mobility. The purpose of this study was to assess participants functional improvement at a level of minimal clinically important difference (MCID) in one of four outcome measures: Gait Speed, Berg Balance Assessment, Functional Gait Assessment, and Unified Parkinson's Disease Rating Scale Motor Section...
2017: Rehabilitation Research and Practice
https://www.readbyqxmd.com/read/28331541/identifying-cross-cultural-variations-in-psychostimulant-use-for-attention-deficit-hyperactivity-disorder-using-linked-data
#16
Manonita Ghosh, C D'Arcy J Holman, David B Preen
BACKGROUND: To validate the association between country-of-birth and disparities in the stimulant use for ADHD among individuals in Western Australia. METHODS: Using linked data, a population-based retrospective cohort of individuals admitted to hospital before age 25 years was followed through to identify having stimulants for ADHD in 2003-2007. Multivariate logistic and linear regressions were used to characterise associations between stimulants and country-of-birth, geographical remoteness and socioeconomic status...
2017: Child and Adolescent Psychiatry and Mental Health
https://www.readbyqxmd.com/read/28330777/altered-visual-repetition-suppression-in-fragile-x-syndrome-new-evidence-from-erps-and-oscillatory-activity
#17
Simon Rigoulot, Inga S Knoth, Marc-Philippe Lafontaine, Phetsamone Vannasing, Philippe Major, Sébastien Jacquemont, Jacques L Michaud, Karim Jerbi, Sarah Lippe
Fragile X Syndrome (FXS) is a neurodevelopmental genetic disorder associated with cognitive and behavioural deficits. In particular, neuronal habituation processes have been shown to be altered in FXS patients. Yet, while such deficits have been primarily explored using auditory stimuli, less is known in the visual modality. Here, we investigated the putative alteration of repetition suppression using faces in FXS patients compared to controls that had the same age distribution. Electroencephalographic (EEG) signals were acquired while participants were presented with 18 different faces, each repeated ten times successively...
March 19, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/28330419/how-does-sex-affect-the-care-dependency-risk-one-year-after-stroke-a-study-based-on-claims-data-from-a-german-health-insurance-fund
#18
Susanne Schnitzer, Johannes Deutschbein, Christian H Nolte, Martin Kohler, Adelheid Kuhlmey, Liane Schenk
OBJECTIVES: The study explores the association between sex and care dependency risk one year after stroke. METHODS: The study uses claims data from a German statutory health insurance fund. Patients were included if they received a diagnosis of ischemic or hemorrhagic stroke between 1 January and 31 December 2007 and if they survived for one year after stroke and were not dependent on care before the event (n = 1851). Data were collected over a one-year period...
March 22, 2017: Topics in Stroke Rehabilitation
https://www.readbyqxmd.com/read/28328676/correlation-between-factor-f-xia-fixa-and-tissue-factor-and-trauma-severity
#19
Shannon M Prior, Mitchell J Cohen, Amanda S Conroy, Mary F Nelson, Lucy Z Kornblith, Benjamin M Howard, Saulius Butenas
BACKGROUND: It has been observed that trauma patients often display elevated procoagulant activity that could be caused, in part, by tissue factor (TF). We previously observed that trauma patients with thermal, blunt and penetrating injuries have active FIXa and FXIa in their plasma. In the current study we evaluated the effect of injury severity, with or without accompanying shock, on the frequency and concentration of TF, FIXa and FXIa in plasma from trauma patients. METHODS: Eighty trauma patients were enrolled and divided equally into 4 groups based on their injury severity score (ISS) and base deficit (BD):Group 1: Non-severe injury, no shockGroup 2: Non-severe injury, with shockGroup 3: Severe injury, no shockGroup 4: Severe injury, with shockBlood was collected at a 0 time-point (first blood draw upon arrival at hospital) and citrate plasma was prepared, frozen and stored at -80C...
March 21, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28328640/we-are-going-to-name-names-and-call-you-out-improving-the-team-in-the-academic-operating-room-environment
#20
Richard Bodor, Brian J Nguyen, Kevin Broder
INTRODUCTION: Communication failures between multidisciplinary teams can impact efficiency, performance, and morale. Academic operating rooms (ORs) often have surgical, anesthesia, and nursing teams, each teaching multiple trainees. Incorrectly identifying name and "rank" (postgraduate year [PGY]) of resident trainees can disrupt performance evaluations and team morale and even potentially impair delivery of quality care when miscommunication errors proliferate. METHODS: Our OR-based survey asked 50 participants (18 surgeons, 14 anesthesiologists, and 18 nursing members), to recall basic identification data including provider names and PGY levels from their recent collaborating OR teams...
March 21, 2017: Annals of Plastic Surgery
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