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https://www.readbyqxmd.com/read/27923426/periodic-limb-movements-during-sleep-mimicking-rem-sleep-behavior-disorder
#1
Carles Gaig, Alex Iranzo, Montserrat Pujo, Hernando Perez, Joan Santamaria
STUDY OBJECTIVE: To describe a group of patients referredbecause of abnormal sleep behaviors that were suggestive ofREM sleep behavior disorder (RBD) in whom videopolysomnographyruled out RBD and showed the reportedbehaviors associated with vigorous periodic limb movementsduring sleep (PLMS). METHODS: Clinical history and video-polysomnography reviewof patients identified during routine visits in a sleepcenter. RESULTS: Patients were fifteen men and two women with a median age of 66 (range 48-77) years...
November 28, 2016: Sleep
https://www.readbyqxmd.com/read/27922237/the-comparison-of-general-movements-assessment-and-neurological-examination-during-early-infancy
#2
Büşra Kepenek-Varol, Mine Çalışkan, Zeynep İnce, Burak Tatlı, Emine Eraslan, Asuman Çoban
This prospective single-blinded study was performed to evaluate general movements (GMs) in group of high-risk, low-birth-weight and preterm infants and to compare results with neurologic examination. All infants' neurologic examinations, Gross Motor Function Measurement (GMFM) and Bayley-III Scale were performed at the corrected age of 12 months. A total of 22 infants were included. Eight infants (group-1) (mean: 31.6±3.29 weeks, range: 25-36 weeks) had normal GMs in all recordings and were ultimately evaluated as "normal"; 12 (group-2) (mean: 31...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27921204/a-case-of-double-depressor-palsy-followed-by-pursuit-deficit-due-to-sequential-infarction-in-bilateral-thalamus-and-right-medial-superior-temporal-area
#3
Su Jin Kim, Myeong In Yeom, Seung Uk Lee
BACKGROUND: We present a unique case of a patient who suffered two rare events affecting the supranuclear control, first of the vertical and second of the horizontal eye movements. The first event involved bilateral thalamic infarcts that resulted in double depressor palsy. The second event occurred 1 year later and it involved supranuclear control of horizontal eye movements creating pursuit deficit. CASE PRESENTATION: A 47-year-old male presented with complaints of diplopia upon awakening...
December 5, 2016: International Ophthalmology
https://www.readbyqxmd.com/read/27920752/the-effect-of-emotion-and-reward-contingencies-on-relational-memory-in-major-depression-an-eye-movement-study-with-follow-up
#4
Viola L Nemeth, Gergo Csete, Gergely Drotos, Nora Greminger, Zoltan Janka, Laszlo Vecsei, Anita Must
Background: Episodic memory disturbances were found to constitute a potential trait marker for major depression (MD). The recall of positive or rewarding information in a relational context is specifically impaired. Eye-movement recording constitutes a novel, direct approach to examine implicit memory performance. Here we aimed to assess the effect of emotional context and implicit virtual monetary reward or loss on viewing patterns in association with relational memory in a 6-months follow-up study in MD. Materials and Methods: Twenty-eight patients with MD and 30 healthy participants were trained to associate a face (happy/sad/neutral) with a background scene...
2016: Frontiers in Psychology
https://www.readbyqxmd.com/read/27917308/history-of-botulinum-toxin-treatment-in-movement-disorders
#5
REVIEW
Bahman Jabbari
BACKGROUND: The frontiers of clinical medicine constantly expand as a result of the innovative efforts of visionary researchers and keen observations of seasoned clinicians. In medicine, rarely has a therapeutic agent been found efficacious in the management of so many symptoms and in such a relatively short time as botulinum toxin. One of the most notable contributions of botulinum toxin therapy in clinical medicine is in the field of movement disorders. METHODS: The English literature was searched using the Yale search engine including but not limited to PubMed and Ovid...
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/27916472/generation-of-neural-cells-using-ipscs-from-sleep-bruxism-patients-with-5-ht2a-polymorphism
#6
Yurie Hoashi, Satoshi Okamoto, Yuka Abe, Takashi Matsumoto, Junichi Tanaka, Yuya Yoshida, Kent Imaizumi, Kenji Mishima, Wado Akamatsu, Hideyuki Okano, Kazuyoshi Baba
PURPOSE: Sleep bruxism (SB) is classified as a sleep-related movement disorder characterized by grinding and clenching of the teeth during sleep, which is responsible for a variety of clinical problems such as abnormal tooth attrition and fracture of teeth or roots. Little is known about the etiology of SB. Our previous study identified a genomic association of the serotonin 2A receptor (5-HT2A) single nucleotide polymorphism (SNP), rs6313 C>T, with SB, where the C allele carrier is associated with a 4...
December 1, 2016: Journal of Prosthodontic Research
https://www.readbyqxmd.com/read/27911332/type-0-spinal-muscular-atrophy-further%C3%A2-delineation-of-prenatal-and%C3%A2-postnatal-features-in-16-patients
#7
Sarah Grotto, Jean-Marie Cuisset, Stéphane Marret, Séverine Drunat, Patricia Faure, Séverine Audebert-Bellanger, Isabelle Desguerre, Vincent Flurin, Anne-Gaëlle Grebille, Anne-Marie Guerrot, Hubert Journel, Gilles Morin, Ghislaine Plessis, Sylvain Renolleau, Joëlle Roume, Brigitte Simon-Bouy, Renaud Touraine, Marjolaine Willems, Thierry Frébourg, Eric Verspyck, Pascale Saugier-Veber
BACKGROUND: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. OBJECTIVE: The aim of the study was to review clinical features and prenatal manifestations in this rare SMA subtype. METHODS: SMA patients with the 0SMN1/1SMN2 genotype were retrospectively collected using the UMD-SMN1 France database...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27911022/membrane-defects-and-genetic-redundancy-are-we-at-a-turning-point-for-dyt1-dystonia
#8
REVIEW
Ana Cascalho, Julie Jacquemyn, Rose E Goodchild
Heterozygosity for a 3-base pair deletion (ΔGAG) in TOR1A/torsinA is one of the most common causes of hereditary dystonia. In this review, we highlight current understanding of how this mutation causes disease from research spanning structural biochemistry, cell science, neurobiology, and several model organisms. We now know that homozygosity for ΔGAG has the same effects as Tor1a(KO) , implicating a partial loss of function mechanism in the ΔGAG/+ disease state. In addition, torsinA loss specifically affects neurons in mice, even though the gene is broadly expressed, apparently because of differential expression of homologous torsinB...
December 2, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27911020/changes-in-resting-state-connectivity-in-musicians-with-embouchure-dystonia
#9
Bernhard Haslinger, Jonas Noé, Eckart Altenmüller, Valentin Riedl, Claus Zimmer, Tobias Mantel, Christian Dresel
OBJECTIVE: Embouchure dystonia is a highly disabling task-specific dystonia in professional brass musicians leading to spasms of perioral muscles while playing the instrument. As they are asymptomatic at rest, resting-state functional magnetic resonance imaging in these patients can reveal changes in functional connectivity within and between brain networks independent from dystonic symptoms. METHODS: We therefore compared embouchure dystonia patients to healthy musicians with resting-state functional magnetic resonance imaging in combination with independent component analyses...
December 2, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27899087/paradoxical-physiological-responses-to-propranolol-in-a-rett-syndrome-patient-a-case-report
#10
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27898200/transcranial-sonography-in-idiopathic-rem-sleep-behavior-disorder-and-multiple-system-atrophy
#11
Xudong Li, Shuang Xue, Shuhong Jia, Zhi Zhou, Yanan Qiao, Chunlei Hou, Kun Wei, Wenjing Zheng, Pei Rong, Jinsong Jiao
AIMS: We investigated preclinical abnormalities revealed by transcranial sonography (TCS) in patients with idiopathic REM sleep behavior disorder (iRBD) compared with those revealed in patients with multiple system atrophy (MSA) or Parkinson's disease (PD) and in normal controls. METHODS: Twenty-two patients with iRBD, 21 patients with MSA, 22 patients with PD and 21 normal controls were included in this study. All participants underwent one night of video-polysomnography (PSG) monitoring, and the sleep parameters were analyzed using Polysmith software and by visual analysis...
November 29, 2016: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/27895619/a-functional-magnetic-resonance-imaging-study-of-head-movements-in-cervical-dystonia
#12
Cecília N Prudente, Randall Stilla, Shivangi Singh, Cathrin Buetefisch, Marian Evatt, Stewart A Factor, Alan Freeman, Xiaoping Philip Hu, Ellen J Hess, K Sathian, H A Jinnah
Cervical dystonia (CD) is a neurological disorder characterized by abnormal movements and postures of the head. The brain regions responsible for these abnormal movements are not well understood, because most imaging techniques for assessing regional brain activity cannot be used when the head is moving. Recently, we mapped brain activation in healthy individuals using functional magnetic resonance imaging during isometric head rotation, when muscle contractions occur without actual head movements. In the current study, we used the same methods to explore the neural substrates for head movements in subjects with CD who had predominantly rotational abnormalities (torticollis)...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27893564/instrumented-test-of-sensory-integration-for-balance-a-validation-study
#13
Lynn Freeman, Geetanjali Gera, Fay B Horak, Mary T Blackinton, Mark Besch, Laurie King
BACKGROUND AND PURPOSE: Abnormal postural sway is associated with an increase in risk of falls but is difficult for clinicians to accurately quantify without access to laboratory equipment. Instrumenting clinical outcome measures using body-worn movement monitors is a low-cost alternative. This is the first study to compare the modified Clinical Test of Sensory Integration for Balance (i-mCTSIB) to the laboratory test of the Sensory Organization Test (SOT) with dynamic posturography in a group of participants with Parkinson's disease (PD) and subtle balance limitations...
November 23, 2016: Journal of Geriatric Physical Therapy
https://www.readbyqxmd.com/read/27892450/orthognathic-surgery-for-the-correction-of-severe-skeletal-class-iii-malocclusion
#14
D Kafle, C Upadhayaya, N Chaurasia, A Agarwal
Skeletal Malocclusions results from the abnormal position of maxilla and mandible in relation with cranial base. These types of malocclusion are commonly treated by orthodontic teeth movement known as camouflage orthodontics. However severe skeletal malocclusions cannot be treated by orthodontics alone. Such cases need surgical intervention to align the position of the jaw along with orthodontic correction. This procedure is commonly known as Orthognathic Surgery. Orthognathic Surgery dates back to early eighteenth century but became popular on mid twentieth century...
January 2016: Kathmandu University Medical Journal (KUMJ)
https://www.readbyqxmd.com/read/27891079/contribution-of-tms-and-rtms-in-the-understanding-of-the-pathophysiology-and-in-the-treatment-of-dystonia
#15
REVIEW
Pierre Lozeron, Aurélia Poujois, Alexandra Richard, Sana Masmoudi, Elodie Meppiel, France Woimant, Nathalie Kubis
Dystonias represent a heterogeneous group of movement disorders responsible for sustained muscle contraction, abnormal postures, and muscle twists. It can affect focal or segmental body parts or be generalized. Primary dystonia is the most common form of dystonia but it can also be secondary to metabolic or structural dysfunction, the consequence of a drug's side-effect or of genetic origin. The pathophysiology is still not elucidated. Based on lesion studies, dystonia has been regarded as a pure motor dysfunction of the basal ganglia loop...
2016: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/27888845/mr-imaging-of-impingement-and-entrapment-syndromes-of-the-foot-and-ankle
#16
REVIEW
Edward Sellon, Philip Robinson
Impingement is a clinical syndrome of chronic pain and restricted range of movement caused by compression of abnormal bone or soft tissue within the ankle joint. It usually occurs following a sprain injury or repetitive microtrauma causing haemorrhage, synovial hyperplasia, and abnormal soft tissue interposition within the joint. MR imaging is particularly valuable in being able to detect not only the soft tissue and osseous abnormalities involved in these syndromes, but also a wide variety of other potential causes of ankle pain and instability that also may need to be addressed clinically...
February 2017: Magnetic Resonance Imaging Clinics of North America
https://www.readbyqxmd.com/read/27888574/normal-heart-in-parkinson-s-disease-is-this-a-distinct-clinical-phenotype
#17
J-S Kim, H-E Park, I-S Park, Y-S Oh, D-W Ryu, I-U Song, Y-A Jung, I R Yoo, H-S Choi, P H Lee, K-S Lee
BACKGROUND AND PURPOSE: Reduction of metaiodobenzylguanidine (MIBG) uptake has been observed in almost all patients with Parkinson's disease (PD), associated with hyposmia, orthostatic hypotension and rapid eye movement sleep behavioral disorder (RBD). In contrast, a subgroup of patients with PD with normal MIBG uptake have been reported to have milder disease and preserved cognition compared with those with lower MIBG. The aim of this study was to investigate whether non-motor manifestations of PD differ between patients with normal and abnormal myocardial MIBG uptake...
November 26, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27887893/emotion-modulation-of-the-startle-reflex-in-essential-tremor-blunted-reactivity-to-unpleasant-and-pleasant-pictures
#18
Jacob A Lafo, Ania Mikos, Paul C Mangal, Bonnie M Scott, Erin Trifilio, Michael S Okun, Dawn Bowers
BACKGROUND: Essential tremor is a highly prevalent movement disorder characterized by kinetic tremor and mild cognitive-executive changes. These features are commonly attributed to abnormal cerebellar changes, resulting in disruption of cerebellar-thalamo-cortical networks. Less attention has been paid to alterations in basic emotion processing in essential tremor, despite known cerebellar-limbic interconnectivity. OBJECTIVES: In the current study, we tested the hypothesis that a psychophysiologic index of emotional reactivity, the emotion modulated startle reflex, would be muted in individuals with essential tremor relative to controls...
November 17, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27884168/ataxia-telangiectasia-a-review
#19
REVIEW
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Thomas O Crawford, Howard M Lederman
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY: The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages...
November 25, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27884141/normal-patellofemoral-kinematic-patterns-during-daily-activities-in-dogs
#20
Erica J Moore, Stanley E Kim, Scott A Banks, Antonio Pozzi, Jason D Coggeshall, Stephen C Jones
BACKGROUND: Patellar abnormalities are a common cause of pain and lameness in dogs; however, in vivo the relative motion between the femur and patella in dogs is not well described. The objective of this study was to define normal in vivo sagittal plane patellofemoral kinematics in three axes of motion using non-invasive methods. We hypothesized patellofemoral alignment in the sagittal plane would tightly correlate with the femorotibial flexion angle. Six healthy dogs without orthopedic disease underwent computed tomography (CT) of their hind limbs to create 3-D models of the patella and femur...
November 25, 2016: BMC Veterinary Research
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