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https://www.readbyqxmd.com/read/29741274/neurologic-impairments-from-pediatric-low-grade-glioma-by-tumor-location-and-timing-of-diagnosis
#1
Zsila S Sadighi, Elizabeth Curtis, Jennifer Zabrowksi, Catherine Billups, Amar Gajjar, Raja Khan, Ibrahim Qaddoumi
BACKGROUND: The neurologic outcomes of low-grade gliomas (LGGs) according to tumor location and duration of presenting symptoms remain poorly characterized in children. PROCEDURE: We retrospectively reviewed neurologic impairments in 246 pediatric patients with LGGs (88 with optic pathway and midline tumors, 56 with posterior fossa tumors, 52 with cerebral hemisphere tumors, 35 with brainstem tumors, and 15 with spinal cord tumors) who were treated at St. Jude Children's Research Hospital between 1995 and 2005...
May 9, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29704691/case-report-a-comparative-report-on-intracranial-tumor-to-tumor-metastasis-and-collision-tumors
#2
Sohail Syed, David I Karambizi, Amanda Baker, Darren M Groh, Steven A Toms
BACKGROUND: The incidence of two distinct tumor types occupying the same anatomical location is rarely observed and may be accounted for by two separate mechanisms: Tumor to tumor metastasis and "collision" tumors where two adjacent tumors invade one another. These rare phenomena arise from distinct mechanisms, which may impact their preoperative recognition, surgical approach, and postoperative care. We will review two cases, highlighting their identification and perioperative management...
April 25, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29694278/signals-driving-the-adaptation-of-saccades-that-require-spatial-updating
#3
Robijanto Soetedjo
Saccades adapt to persistent natural or artificially imposed dysmetrias. The characteristics and circuitry of saccade adaptation have been revealed using a visually guided task (VGT) where the vectors of the target step and the intended saccade command are the same. However, in real life, another saccade occasionally intervenes before the saccade to the target occurs. This necessitates an updating of the intended saccade to account for the intervening saccadic displacement, which dissociates the visual target signal and the intended saccade command...
April 25, 2018: Journal of Neurophysiology
https://www.readbyqxmd.com/read/29667043/abnormalities-in-thalamo-cortical-connections-in-patients-with-first-episode-schizophrenia-a-two-tensor-tractography-study
#4
Hesham M Hamoda, A T Makhlouf, J Fitzsimmons, Y Rathi, N Makris, R I Mesholam-Gately, J D Wojcik, J Goldstein, R W McCarley, L J Seidman, M Kubicki, M E Shenton
The "cognitive dysmetria" hypothesis suggests that impairments in cognition and behavior in patients with schizophrenia can be explained by disruptions in the cortico-cerebellar-thalamic-cortical circuit. In this study we examine thalamo-cortical connections in patients with first-episode schizophrenia (FESZ). White matter pathways are investigated that connect the thalamus with three frontal cortex regions including the anterior cingulate cortex (ACC), ventrolateral prefrontal cortex (VLPFC), and lateral oribitofrontal cortex (LOFC)...
April 17, 2018: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/29623859/non-invasive-cerebellar-stimulation-in-cerebellar-disorders
#5
Roberta Ferrucci, Ciara Di Nuzzo, Fabiana Ruggiero, Francesca Cortese, Ilaria Cova, Alberto Priori
Non-invasive brain stimulation (NIBS) might be a valuable therapeutic approach for neurological diseases by modifying the cortical activity in the human brain and promoting neural plasticity. Currently, researchers are exploring the use of NIBS on the cerebellum to promote functional neural changes in cerebellar disorders. In the presence of cerebellar dysfunction, several movement disorders, such as kinetic tremor, ataxia of gait, limb dysmetria and oculomotor deficits, become progressively more disabling in daily life, and no pharmacological treatments currently exist...
April 3, 2018: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/29584455/vestibular-and-oculomotor-findings-in-neurologically-normal-non-concussed-children
#6
Daniel J Corwin, Mark R Zonfrillo, Douglas J Wiebe, Christina L Master, Matthew F Grady, Kristy B Arbogast
OBJECTIVE: To determine the proportion of non-concussed, neurologically normal children with failures on a vestibular and oculomotor examination for concussion performed in an acute setting. DESIGN: This was a cross-sectional study of subjects 6-18 years old presenting to a paediatric emergency department with non-neurologic chief complaints. The examination was administered by a paediatric emergency medicine physician, and includes assessments of dysmetria, nystagmus, smooth pursuits, saccades, gaze stability, near-point of convergence, and gait/balance testing...
March 27, 2018: Brain Injury: [BI]
https://www.readbyqxmd.com/read/29564144/spinocerebellar-ataxia-17-full-phenotype-in-a-41-cag-caa-repeats-carrier
#7
Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich
Background: Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of CAG/CAA repeat in the Tata binding protein ( TBP ) gene. Normal alleles contain 25 to 40 CAG/CAA repeats, alleles with 50 or greater CAG/CAA repeats are pathological with full penetrance. Alleles with 43 to 49 CAG/CAA repeats were also reported and their penetrance is estimated between 50 and 80%...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29530008/hyperglycemia-related-central-pontine-demyelinization-after-a-binge-eating-attack-in-a-patient-with-type-2-diabetes-a-case-report
#8
Rainer U Pliquett, Arno Noll, Richard Ibe, Alexandra Katz, Charlotte Ackmann, Alexandra Schreiber, Matthias Girndt
BACKGROUND: Here, we report a case of central pontine demyelinization in a type-2 diabetes patient with hyperglycemia after a binge-eating attack in the absence of a relevant hyponatremia. CASE PRESENTATION: A 55-year-old, male type-2 diabetic patient with liver cirrhosis stage Child-Pugh B was admitted due to dysmetria of his right arm, gait disturbance, dizziness, vertigo, and polyuria, polydipsia after a binge-eating attack of sweets (a whole fruit cake and 2 Liters of soft drinks)...
March 12, 2018: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/29527392/adult-hemispheric-cerebellar-medulloblastoma
#9
Felipe de Oliveira, José Alberto Landeiro, Igor de Castro
Background: Medulloblastoma is an embryonal neoplasm and accounts for 1% of all adult intracranial tumors. It is associated with many familiar cancer syndromes, but there is no known cause for medulloblastoma. Many studies have documented differences between childhood and adult medulloblastomas in terms of location, proliferation, and apoptotic indices. There are four histological groups - classic and the variant forms (desmoplastic/nodular, anaplasic, and large cell). There are four major subgroups according to molecular configuration: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4 with differences between them according to prognostic outcomes...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29425940/rehabilitation-course-and-specification-of-dysmetria-of-a-patient-with-ataxia-dysmetria-and-hemiparesis-after-a-stroke-in-the-corona-radiata-a-case-presentation
#10
Monir Mohar, Kosandra Hartman, Bronwyn Long, Peter Lee, Adrian Didita, Eric L Altschuler
We present a case of a patient with ataxia, dysmetria, and hemiparesis after a stroke in the corona radiata. The patient had an excellent clinical course with near resolution of symptoms in 2 and a half weeks and returned and back to work full duty and full time a couple of weeks later. We use a video of several neurologic tests to demonstrate and characterize the dysmetria. Interestingly, a key characteristic of the dysmetria appears to be different from that seen in patients with dysmetria arising from a cerebellar, thalamic, or pontine lesion...
February 6, 2018: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/29406885/preliminary-evidence-of-the-cerebellar-role-on-cognitive-performances-in-clinically-isolated-syndrome
#11
Amandine Moroso, Aurélie Ruet, Delphine Lamargue-Hamel, Fanny Munsch, Mathilde Deloire, Jean-Christophe Ouallet, Stéphanie Cubizolle, Julie Charré-Morin, Aurore Saubusse, Thomas Tourdias, Vincent Dousset, Bruno Brochet
BACKGROUND: Cerebellar and cognitive dysfunction can occur early in clinically isolated syndrome (CIS). Eye tracking is a reliable tool for the evaluation of both subtle cerebellar symptoms and cognitive impairment. OBJECTIVES: To investigate the early cognitive profile using neuropsychological and ocular motor (OM) testing in CIS with and without cerebellar dysfunction with OM testing compared to healthy subjects (HS). METHODS: Twenty-eight patients and 12 HC underwent OM and neuropsychological testing...
February 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29368226/lateral-medullary-infarction-with-cardiovascular-autonomic-dysfunction-an-unusual-presentation-with-review-of-the-literature
#12
REVIEW
Tridu R Huynh, Barbara Decker, Timothy J Fries, Ajay Tunguturi
PURPOSE: We report an unusual case of lateral medullary infarction presenting with orthostatic hypotension with pre-syncope without vertigo or Horner's syndrome. METHODS: Case report with review of the literature. RESULTS: A 67-year-old man presented with pre-syncope and ataxia without vertigo. Initial brain CT and MRI were normal. Neurological evaluation revealed right-beating nystagmus with left gaze, vertical binocular diplopia, right upper-extremity dysmetria, truncal ataxia with right axial lateropulsion, and right-facial and lower extremity hypoesthesia...
January 24, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/29282348/-a-case-of-cowden-syndrome-associated-with-lhermitte-duclos-disease
#13
Hidefumi Suzuki, Kyoko Hosokawa, Michio Ono, Yasuhiro Kojima, Masutaro Kanda, Hiroshi Shibasaki
A 24-year-old woman slowly developed mild unsteadiness of gait. Neurological examination revealed mild dysmetria of the left upper and lower limbs. Standing and gait were unsteady, and tandem gait was impossible. Cranial magnetic resonance imaging (MRI) showed an enlarged left cerebellar hemisphere with striated lines, a characteristic finding of Lhermitte-Duclos disease. She also had papules on the forehead, goiter, lactating adenoma, glycogenic acanthosis in the esophagus, café-au-lait spot, and hemangioma and keratosis on the dorsum of foot...
December 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29176543/a-rare-case-of-cerebellar-ataxia-due-to-voltage-gated-calcium-channel-and-glutamic-acid-decarboxylase-autoantibodies
#14
Giuseppe Annunziata, Pamela Lobo, Cristian Carbuccia
BACKGROUND Autoimmune cerebellar ataxia can be paraneoplastic in nature or can occasionally present without evidence of an ongoing malignancy. The detection of specific autoantibodies has been statistically linked to different etiologies. CASE REPORT A 55-year-old African-American woman with hypertension and a past history of morbid obesity and uncontrolled diabetes status post gastric bypass four years prior to the visit (with significantly improved body mass index and hemoglobin A1c controlled at the time of the clinical encounter) presented to the office complaining of gradual onset of unsteadiness and recurrent falls for the past three years, as well as difficulties coordinating routine daily activities...
November 27, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29066118/a-de-novo-p-arg756cys-mutation-in-atp1a3-causes-a-distinct-phenotype-with-prolonged-weakness-and-encephalopathy-triggered-by-fever
#15
Yuji Nakamura, Ayako Hattori, Mitsuko Nakashima, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Naoki Ando, Naomichi Matsumoto, Shinji Saitoh
Patients with a mutation at Arg756 in ATP1A3 have been known to exhibit a distinct phenotype, characterized by prolonged weakness and encephalopathy, triggered by febrile illness. With only eight reports published to date, more evidence is required to correlate clinical features with a mutation at Arg756. Here we report an additional case with an Arg756Cys mutation in ATP1A3. A four-year-old boy showed mild developmental delay with recurrent paroxysmal episodes of weakness and encephalopathy from nine months of age...
March 2018: Brain & Development
https://www.readbyqxmd.com/read/29054956/indirect-carotid-cavernous-fistula-mimicking-ocular-myasthenia
#16
Lakshmi Leishangthem, Sudhakar Reddy Satti
71-year-old woman with progressive left-sided, monocular diplopia and ptosis. Her symptoms mimicked ocular myasthenia, but she had an indirect carotid cavernous fistula (CCF). She was diagnosed with monocular myasthenia gravis (negative acetylcholinesterase antibody) after a positive ice test and started on Mestinon and underwent a thymectomy complicated by a brachial plexus injury. Months later, she developed left-sided proptosis and ocular bruit. She was urgently referred to neuro-interventional surgery and was diagnosed with an indirect high-flow left CCF, which was treated with Onyx liquid and platinum coil embolisation...
October 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29053771/the-cerebellum-in-alzheimer-s-disease-evaluating-its-role-in-cognitive-decline
#17
Heidi I L Jacobs, David A Hopkins, Helen C Mayrhofer, Emiliano Bruner, Fred W van Leeuwen, Wijnand Raaijmakers, Jeremy D Schmahmann
The cerebellum has long been regarded as essential only for the coordination of voluntary motor activity and motor learning. Anatomical, clinical and neuroimaging studies have led to a paradigm shift in the understanding of the cerebellar role in nervous system function, demonstrating that the cerebellum appears integral also to the modulation of cognition and emotion. The search to understand the cerebellar contribution to cognitive processing has increased interest in exploring the role of the cerebellum in neurodegenerative and neuropsychiatric disorders...
January 1, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28987310/spontaneous-subclavian-artery-dissection-causing-ischemia-of-the%C3%A2-medulla-oblongata-and-cerebellum
#18
Naoto Nagino, Hiraku Funakoshi, Takashi Shiga, Kuniyasu Saigusa
BACKGROUND: Spontaneous subclavian artery dissection is a rare etiology. Spontaneous artery dissection causing brain ischemia is rare in all ischemic strokes. However, in young to middle-aged patients with brain ischemia, spontaneous carotid or vertebral artery dissection causing ischemic stroke accounts for 10-25%. CASE REPORT: A 58-year-old man with a history of hypertension presented to the Emergency Department with a sudden onset of left-arm paresthesia and numbness followed by symptoms of vertigo and vomiting...
November 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28863961/cerebellopathy-secondary-to-anti-peroxidase-antibody-mediated-toxicity-a-special-case-of-hashimoto-encephalopathy
#19
Gary Álvarez Bravo, Antonio Yusta Izquierdo, Guilherme Carvalho Monteiro, Irene Sánchez
OBJECTIVE: The aim of this case report is to highlight the importance of recognizing uncommon causes of cerebellar involvement. CASE PRESENTATION: A 45-year-old woman with no medical history who presented gait instability that appears suddenly and evolves rapidly in two weeks, causing frequent falls. Neurological examination revealed an inability to walk due to severe ataxia, accompanied by global hypotonia, appendicular dysmetria, opsoclonus and dysarthria. We studied this patient with cerebellar syndrome, obtaining as relevant findings global cerebellar atrophy in MRI (magnetic resonance imaging) and especially, considerably elevated levels of antibodies against thyroid peroxidase (TPO)...
November 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28807751/a-novel-pmca3-mutation-in-an-ataxic-patient-with-hypomorphic-phosphomannomutase-2-pmm2-heterozygote-mutations-biochemical-characterization-of-the-pump-defect
#20
Mattia Vicario, Tito Calì, Domenico Cieri, Francesca Vallese, Raissa Bortolotto, Raffaele Lopreiato, Francesco Zonta, Marta Nardella, Alessia Micalizzi, Dirk J Lefeber, Enza Maria Valente, Enrico Bertini, Giuseppe Zanotti, Ginevra Zanni, Marisa Brini, Ernesto Carafoli
The neuron-restricted isoform 3 of the plasma membrane Ca(2+) ATPase plays a major role in the regulation of Ca(2+) homeostasis in the brain, where the precise control of Ca(2+) signaling is a necessity. Several function-affecting genetic mutations in the PMCA3 pump associated to X-linked congenital cerebellar ataxias have indeed been described. Interestingly, the presence of co-occurring mutations in additional genes suggest their synergistic action in generating the neurological phenotype as digenic modulators of the role of PMCA3 in the pathologies...
August 12, 2017: Biochimica et Biophysica Acta
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