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https://www.readbyqxmd.com/read/28437535/clinical-aspects-of-glucose-transporter-type-1-deficiency-information-from-a-global-registry
#1
Jian Hao, Dorothy I Kelly, Jianzhong Su, Juan M Pascual
Importance: Case reports regularly document unique or unusual aspects of glucose transporter type 1 deficiency (G1D). In contrast, population studies from which to draw global inferences are lacking. Twenty-five years after the earliest case reports, this deficiency still particularly affects treatment and prognostic counseling. Objective: To examine the most common features of G1D. Design, Setting, and Participants: In this study, data were collected electronically from 181 patients with G1D through a web-based, worldwide patient registry from December 1, 2013, through December 1, 2016...
April 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28437516/a-rare-case-of-misdiagnosed-silent-lung-cancer-with-solitary-metastasis-to-the-temporomandibular-joint-condyle
#2
Luca Guarda-Nardini, Edoardo Stellini, Adolfo Di Fiore, Daniele Manfredini
This article describes the case history of a 59-year-old female patient who sought advice for temporomandibular joint (TMJ) pain and sounds but who was actually diagnosed with a primary lung cancer with metastasis to the TMJ. The patient had a history of TMJ pain and deflection in jaw movement that progressively worsened over a few months and did not improve with the usual standard of care treatment provided by an orofacial pain practitioner. Magnetic resonance and computed tomography (CT) prescribed at a tertiary clinic showed an osteolytic bone mass within the right TMJ condyle...
April 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/28437035/the-association-between-oral-examination-findings-and-the-computed-tomographic-appearance-of-the-equine-temporomandibular-joint
#3
J L Carmalt, H Simhofer, A Bienert-Zeit, J E Rawlinson, C L Waldner
BACKGROUND: The temporomandibular joint (TMJ) forms the junction between the maxilla and mandible. Movement of the jaw and resulting masticatory forces have been extensively studied in the horse; however, less is known about the inter-relationship between this joint and oral and dental pathology. OBJECTIVES: To determine the association between specific oral and dental pathologies and anatomical variations of the TMJ imaged with computed tomography (CT) in horses with asymptomatic TMJs...
April 24, 2017: Equine Veterinary Journal
https://www.readbyqxmd.com/read/28436572/a-randomized-double-blind-placebo-controlled-trial-evaluating-cysteamine-in-huntington-s-disease
#4
Christophe Verny, Anne-Catherine Bachoud-Lévi, Alexandra Durr, Cyril Goizet, Jean-Philippe Azulay, Clémence Simonin, Christine Tranchant, Fabienne Calvas, Pierre Krystkowiak, Perrine Charles, Katia Youssov, Clarisse Scherer, Adriana Prundean, Audrey Olivier, Pascal Reynier, Frédéric Saudou, Patrick Maison, Philippe Allain, Erica von Studnitz, Dominique Bonneau
BACKGROUND: Cysteamine has been demonstrated as potentially effective in numerous animal models of Huntington's disease. METHODS: Ninety-six patients with early-stage Huntington's disease were randomized to 1200 mg delayed-release cysteamine bitartrate or placebo daily for 18 months. The primary end point was the change from baseline in the UHDRS Total Motor Score. A linear mixed-effects model for repeated measures was used to assess treatment effect, expressed as the least-squares mean difference of cysteamine minus placebo, with negative values indicating less deterioration relative to placebo...
April 24, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28436557/stop-look-and-listen-sleep-in-movement-disorders
#5
REVIEW
Alex Iranzo, Michael H Silber
No abstract text is available yet for this article.
April 24, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28436538/longitudinal-magnetic-resonance-imaging-in-progressive-supranuclear-palsy-a-new-combined-score-for-clinical-trials
#6
Günter U Höglinger, Jakob Schöpe, Maria Stamelou, Jan Kassubek, Teodoro Del Ser, Adam L Boxer, Stefan Wagenpfeil, Hans-Jürgen Huppertz
BACKGROUND: Two recent, randomized, placebo-controlled phase II/III trials (clinicaltrials.gov: NCT01110720, NCT01049399) of davunetide and tideglusib in progressive supranuclear palsy (PSP) generated prospective, 1-year longitudinal datasets of high-resolution T1-weighted three-dimensional MRI. OBJECTIVE: The objective of this study was to develop a quantitative MRI disease progression measurement for clinical trials. METHODS: The authors performed a fully automated quantitative MRI analysis employing atlas-based volumetry and provide sample size calculations based on data collected in 99 PSP patients assigned to placebo in these trials...
April 24, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28435846/psychometric-properties-and-characteristics-of-the-north-east-visual-hallucinations-interview-in-parkinson-s-disease
#7
Kelsey A Holiday, Eva Pirogovsky-Turk, Vanessa L Malcarne, J Vincent Filoteo, Irene Litvan, Stephanie L Lessig, David Song, Dawn M Schiehser
BACKGROUND: Visual Hallucinations (VH) are a common symptom experienced by individuals with Parkinson's disease (PD); however, a validated measure of VH has yet to be established for this population. The North-East Visual Hallucinations Interview (NEVHI), a promising VH measure, has not been well validated in PD. The aim of this study was to evaluate the convergent and discriminant validity of the NEVHI as well as the proportional identification and characteristics of VH in PD. METHODS: One hundred seventeen individuals with PD completed the NEVHI as well as evaluations of psychological, cognitive, motor, and visual functioning as measures of convergent and divergent validity...
March 16, 2017: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/28435631/the-impact-of-kinesio-taping-technique-on-children-with-cerebral-palsy
#8
REVIEW
Alireza Shamsoddini, Zabihallah Rasti, Minoo Kalantari, Mohammad Taghi Hollisaz, Vahid Sobhani, Hamid Dalvand, Mohammad Kazem Bakhshandeh-Bali
Cerebral palsy (CP) is the most common movement disorder in children that is associated with life-long disability and multiple impairments. The clinical manifestations of CP vary among children. CP is accompanied by a wide range of problems and has a broad spectrum. Children with CP demonstrate poor fine and dross motor function due to psychomotor disturbances. Early rehabilitation programs are essential for children with CP and should be appropriate for the age and functional condition of the patients. Kinesio taping (KT) technique is a relatively new technique applied in rehabilitation programs of CP...
October 7, 2016: Iranian Journal of Neurology
https://www.readbyqxmd.com/read/28434495/dysfunction-of-the-cerebral-glucose-transporter-slc45a1-in-individuals-with-intellectual-disability-and-epilepsy
#9
Myriam Srour, Noriaki Shimokawa, Fadi F Hamdan, Christina Nassif, Chantal Poulin, Lihadh Al Gazali, Jill A Rosenfeld, Noriyuki Koibuchi, Guy A Rouleau, Aisha Al Shamsi, Jacques L Michaud
Glucose transport across the blood brain barrier and into neural cells is critical for normal cerebral physiologic function. Dysfunction of the cerebral glucose transporter GLUT1 (encoded by SLC2A1) is known to result in epilepsy, intellectual disability (ID), and movement disorder. Using whole-exome sequencing, we identified rare homozygous missense variants (c.526C>T [p.Arg176Trp] and c.629C>T [p.Ala210Val]) in SLC45A1, encoding another cerebral glucose transporter, in two consanguineous multiplex families with moderate to severe ID, epilepsy, and variable neuropsychiatric features...
April 18, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28434395/would-adults-with-autism-be-less-likely-to-bury-the-survivors-an-eye-movement-study-of-anomalous-text-reading
#10
Sheena K Au-Yeung, Johanna K Kaakinen, Simon P Liversedge, Valerie Benson
In a single eye movement experiment we investigated the effects of context on the time course of local and global anomaly processing during reading in adults with Autism Spectrum Disorder (ASD). In one condition short paragraph texts contained anomalous target words. Detection of the anomaly was only possible through evaluation of word meaning in relation to the global context of the whole paragraph (Passage Level Anomalies). In another condition the anomaly could be detected via computation of a local thematic violation within a single sentence embedded in the paragraph (Sentence Level Anomalies)...
April 24, 2017: Quarterly Journal of Experimental Psychology: QJEP
https://www.readbyqxmd.com/read/28434057/predictive-control-of-intersegmental-tarsal-movements-in-an-insect
#11
Alicia Costalago-Meruelo, David M Simpson, Sandor M Veres, Philip L Newland
In many animals intersegmental reflexes are important for postural and movement control but are still poorly undesrtood. Mathematical methods can be used to model the responses to stimulation, and thus go beyond a simple description of responses to specific inputs. Here we analyse an intersegmental reflex of the foot (tarsus) of the locust hind leg, which raises the tarsus when the tibia is flexed and depresses it when the tibia is extended. A novel method is described to measure and quantify the intersegmental responses of the tarsus to a stimulus to the femoro-tibial chordotonal organ...
April 22, 2017: Journal of Computational Neuroscience
https://www.readbyqxmd.com/read/28434004/what-do-medical-students-know-about-deep-brain-stimulation
#12
Andreas Wloch, Assel Saryyeva, Hans E Heissler, Christoph Schrader, H Holger Capelle, Joachim K Krauss
BACKGROUND: Deep brain stimulation (DBS) is an established therapy for movement disorders. It is currently under investigation in neuropsychiatric disorders. Neurophobia is a common phenomenon that might have a negative impact in medical education. Little is known about medical students' knowledge about DBS when they enter university and what they learn about it during their medical formation. METHODS: A 10-item questionnaire was designed. Questions addressed indications for DBS, costs of DBS, complications, the percentage of Parkinson disease (PD) patients who might profit from DBS, etc...
April 22, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28433987/radiofrequency-lesions-through-deep-brain-stimulation-electrodes-in-movement-disorders-case-report-and-review-of-the-literature
#13
Javier Pérez-Suárez, Cristina V Torres Díaz, Lydia López Manzanares, Marta Navas García, Jesús Pastor, Patricia Barrio Fernández, Rafael G de Sola
BACKGROUND: Although there are few reports of radiofrequency lesions performed through deep brain stimulation (DBS) electrodes in patients with movement disorders, experience with this method is scarce. METHODS: We present 2 patients who had been previously treated with DBS of subthalamic nuclei (STN) and the ventral intermediate (VIM) nucleus of the thalamus for Parkinson's disease and essential tremor, respectively, and underwent a radiofrequency lesion through their DBS electrodes after developing a hardware infection...
April 22, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28433867/validity-and-repeatability-of-inertial-measurement-units-for-measuring-gait-parameters
#14
Edward P Washabaugh, Tarun Kalyanaraman, Peter G Adamczyk, Edward S Claflin, Chandramouli Krishnan
Inertial measurement units (IMUs) are small wearable sensors that have tremendous potential to be applied to clinical gait analysis. They allow objective evaluation of gait and movement disorders outside the clinic and research laboratory, and permit evaluation on large numbers of steps. However, repeatability and validity data of these systems are sparse for gait metrics. The purpose of this study was to determine the validity and between-day repeatability of spatiotemporal metrics (gait speed, stance percent, swing percent, gait cycle time, stride length, cadence, and step duration) as measured with the APDM Opal IMUs and Mobility Lab system...
April 12, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28433741/loss-of-the-neurodevelopmental-gene-zswim6-alters-striatal-morphology-and-motor-regulation
#15
David J Tischfield, Dave K Saraswat, Andrew Furash, Stephen C Fowler, Marc V Fuccillo, Stewart A Anderson
The zinc-finger SWIM domain-containing protein 6 (ZSWIM6) is a protein of unknown function that has been associated with schizophrenia and limited educational attainment by three independent genome-wide association studies. Additionally, a putatively causal point mutation in ZSWIM6 has been identified in several cases of acromelic frontonasal dysostosis with severe intellectual disability. Despite the growing number of studies implicating ZSWIM6 as an important regulator of brain development, its role in this process has never been examined...
April 19, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28433109/pathogenesis-of-wilson-disease
#16
Ivo Florin Scheiber, Radan Brůha, Petr Dušek
Wilson disease is an autosomal-recessive disorder originating from a genetic defect in the copper-transporting ATPase ATP7B that is required for biliary copper secretion and loading of ceruloplasmin with copper. Impaired ATP7B function in Wilson disease results in excessive accumulation of copper in liver, brain, and other tissues. Toxic copper deposits may induce oxidative stress, modify expression of genes, directly inhibit proteins, and impair mitochondrial function, leading to hepatic, neuropsychiatric, renal, musculoskeletal, and other symptoms...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28432771/a-rare-variant-in-tor1a-exon-5-associated-with-isolated-dystonia-in-southwestern-chinese
#17
Yuzhou Long, Yang Chen, Yuan Qian, Jianlin Wang, Lihua Luo, Xiaoqin Huang, Li Li, Jiayou Chu, Zhaoqing Yang, Hao Sun
BACKGROUND: TOR1A has been proposed as an important genetic factor in early-onset isolated dystonia. Variants located in the 3' untranslated region of TOR1A are of particular importance because they may influence gene expression, although related studies are limited. The objectives of the present study focused on variants in the TOR1A 3' untranslated region. METHODS: The last exon of TOR1A was sequenced in 229 cases with isolated dystonia and in 210 controls. In addition, 471 controls were tested to determine the frequency of the variants in the 3' untranslated region...
April 22, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28432451/investigating-the-use-of-world-knowledge-during-on-line-comprehension-in-adults-with-autism-spectrum-disorder
#18
Philippa L Howard, Simon P Liversedge, Valerie Benson
The on-line use of world knowledge during reading was examined in adults with autism spectrum disorder (ASD). Both ASD and typically developed adults read sentences that included plausible, implausible and anomalous thematic relations, as their eye movements were monitored. No group differences in the speed of detection of the anomalous violations were found, but the ASD group showed a delay in detection of implausible thematic relations. These findings suggest that there are subtle differences in the speed of world knowledge processing during reading in ASD...
April 21, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28431829/utility-of-the-new-movement-disorder-society-clinical-diagnostic-criteria-for-parkinson-s-disease-applied-retrospectively-in-a-large-cohort-study-of-recent-onset-cases
#19
Naveed Malek, Michael A Lawton, Katherine A Grosset, Nin Bajaj, Roger A Barker, Yoav Ben-Shlomo, David J Burn, Tom Foltynie, John Hardy, Huw R Morris, Nigel M Williams, Nicholas Wood, Donald G Grosset
OBJECTIVE: To examine the utility of the new Movement Disorder Society (MDS) diagnostic criteria in a large cohort of Parkinson's disease (PD) patients. METHODS: Recently diagnosed (<3.5 years) PD cases fulfilling United Kingdom (UK) brain bank criteria in Tracking Parkinson's, a UK multicenter prospective natural history study were assessed by retrospective application of the MDS criteria. RESULTS: In 2000 cases, 1835 (91.7%) met MDS criteria for PD, either clinically established (n = 1261, 63...
April 12, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28431177/altered-functional-connectivity-in-idiopathic-rapid-eye-movement-sleep-behavior-disorder-a-resting-state-eeg-study
#20
Jun-Sang Sunwoo, Sanghun Lee, Jung-Hoon Kim, Jung-Ah Lim, Tae-Joon Kim, Jung-Ick Byun, Min Hee Jeong, Kwang Su Cha, Jeong Woo Choi, Kyung Hwan Kim, Soon-Tae Lee, Keun-Hwa Jung, Kyung-Il Park, Kon Chu, Manho Kim, Sang Kun Lee, Ki-Young Jung
Study Objectives: Idiopathic rapid eye movement sleep behavior disorder (iRBD) is considered as a prodromal stage of synucleinopathy. Although loss of functional connectivity is implicated in neurodegenerative diseases, network characteristics of electroencephalography (EEG) in iRBD are unknown. Therefore, we evaluated resting-state EEG functional connectivity to identify the brain network changes in patients with iRBD. Methods: We prospectively enrolled 20 patients with polysomnography-confirmed iRBD and 16 control subjects...
April 18, 2017: Sleep
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