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https://www.readbyqxmd.com/read/28528293/spatiotemporal-movement-variability-in-als-speaking-rate-effects-on-tongue-lower-lip-and-jaw-motor-control
#1
Mili Kuruvilla-Dugdale, Antje Mefferd
PURPOSE: Although it is frequently presumed that bulbar muscle degeneration in Amyotrophic Lateral Sclerosis (ALS) is associated with progressive loss of speech motor control, empirical evidence is limited. Furthermore, because speaking rate slows with disease progression and rate manipulations are used to improve intelligibility in ALS, this study sought to (i) determine between and within-group differences in articulatory motor control as a result of speaking rate changes and (ii) identify the strength of association between articulatory motor control and speech impairment severity...
May 10, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28505539/revisiting-bilateral-thalamotomy-for-tremor
#2
REVIEW
Jumana Alshaikh, Paul S Fishman
MRI guided focused ultrasound surgery (MRgFUS) has been FDA approved for unilateral treatment of essential tremor (ET). Before this non-incisional lesioning method can be applied to the treatment of both hemispheres the previous experience with bilateral thalamic ablation must be addressed. In particular, the high incidence of worsening of speech and balance associated with bilateral surgical thalamotomy, a rationale for the development of deep brain stimulation. The highest incidence of these complication occurred in the early years of surgery for movement disorders, when neither MRI nor current stereotactic methods were available...
May 1, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28500261/osmotic-demyelination-syndrome-in-type-1-diabetes-in-the-absence-of-dyselectrolytaemia-an-overlooked-complication
#3
Chandramohan Sharma, Banshi Lal Kumawat, Maulik Panchal, Mohit Shah
Central pontine myelinolysis (CPM) is a demyelinating disorder of central nervous system which involves central portion of the pons and sometimes extrapontine areas also. It is commonly reported in settings of hyponatraemia or its rapid correction, but in the last few years it has also been reported in patients with diabetes in the absence of electrolyte disturbances or correction of serum osmolality. Here we report a case of a 20-year-old female patient, with a known history of type 1 diabetes mellitus, who presented with acute onset spastic quadriparesis with dysarthria and mild ataxia which evolved over 2 weeks...
May 12, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28497441/-cryptogenic-stroke-in-a-young-patient-with-heart-disease-and-kidney-failure
#4
B Oyanguren, R Segoviano, E Alegria, E Besada, M Gonzalez-Salaices, M Eimil-Ortiz, C Lopez de Silanes
INTRODUCTION: Fabry's disease is an infrequent metabolic pathology linked to the X chromosome which causes a wide variety of signs and symptoms. CASE REPORT: A 39-year-old male who was admitted to our stroke unit with right-side hemiparesis (1 + 0) and dysarthria (1). The score on the National Institute of Health Stroke Scale was 2. The patient presented angiokeratomas in both thighs. A computerised axial tomography scan of the head showed left thalamic acute infarction...
May 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28494172/an-investigation-of-clear-speech-effects-on-articulatory-kinematics-in-talkers-with-als
#5
Mili Kuruvilla-Dugdale, Miguel Chuquilin-Arista
Amyotrophic lateral sclerosis (ALS) affects the speech motor system and causes a substantial decline in intelligibility. Clear speech strategies have been found to benefit intelligibility in talkers with dysarthria and the purpose of this study was to examine clear speech effects on tongue, lip, and jaw movements in persons with ALS and healthy controls. For this purpose, participants produced 10 repetitions of the sentence 'I owe you a yoyo' using both habitual and clear speech. Movement variability as well as maximum speed, range, and duration of movement of the articulators were obtained for both conditions...
May 11, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28487336/clinical-significance-of-isolated-atypical-transient-symptoms-in-a-cohort-with-transient-ischemic-attack
#6
Philippa C Lavallée, Leila Sissani, Julien Labreuche, Elena Meseguer, Lucie Cabrejo, Céline Guidoux, Isabelle F Klein, Pierre-Jean Touboul, Pierre Amarenco
BACKGROUND AND PURPOSE: Contrary to typical transient symptoms (TS), atypical TS, such as partial sensory deficit, dysarthria, vertigo/unsteadiness, unusual cortical visual deficit, and diplopia, are not usually classified as symptoms of transient ischemic attack when they occur in isolation, and their clinical relevance is frequently denied. METHODS: Consecutive patients with recent TS admitted in our transient ischemic attack clinic (2003-2008) had systematic brain, arterial, and cardiac investigations...
May 9, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28487252/capecitabine-induced-acute-toxic-leukoencephalopathy
#7
M Obadia, D Leclercq, Johanna Wasserman, D Galanaud, D Dormont, M Sahli-Amor, Dimitri Psimaras, N Pyatigorskaya, B Law-Ye
A 45-year-old woman was treated by Capecitabine (Xeloda(®)) during 6days for breast cancer with metastatic bone lesions when she presented with nausea, headaches, muscle cramps, dysarthria and swallowing disorders. A stroke was first suspected. Brain CT was normal. MRI showed bilateral and symmetric high signal intensities of deep white matter, corpus callosum and corticospinal tracts on diffusion-weighted imaging and T2 fluid-attenuated inversion recovery (FLAIR) sequence, similar to 5-FU acute leukoencephalopathy...
May 6, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28480790/wound-botulism-its-neurological-manifestations-treatment-and-outcomes-a-case-series-from-the-glasgow-outbreak-2015
#8
Sarah-Jane Martin, Gillian Penrice, Corinne Amar, Kathie Grant, George H Gorrie
Background and aims We examined the neurological manifestations, treatment and outcomes of a subset of 25 patients within the largest ever outbreak of wound botulism in Europe. Methods and results All 25 cases were intravenous drug users. The most common presenting symptom was dysarthria in 19/25 (76%), followed by dysphagia in 12/25 (48%), blurred vision in 10/25 (40%) and double vision in 8/25 (32%). Microbiological analysis confirmed the diagnosis in nine cases (36%). Duration of admission positively correlated with time to antitoxin, time to wound debridement and female sex...
January 1, 2017: Scottish Medical Journal
https://www.readbyqxmd.com/read/28479184/systemic-thrombolysis-in-acute-ischemic-stroke-after-dabigatran-etexilate-reversal-with-idarucizumab-a-case-report
#9
Derya Tireli, Jun He, Mette Maria Nordling, Troels Wienecke
INTRODUCTION: Idarucizumab is a reversal agent for dabigatran etexilate. By reversing the anticoagulating effect of dabigatran etexilate with idarucizumab (Praxbind), patients presenting with an acute ischemic stroke can now be eligible for thrombolysis. PATIENT: We describe our experience with idarucizumab in a 71-year-old male patient pretreated with dabigatran etexilate. The patient arrived with a hemiparesis, central facial palsy, and dysarthria. METHOD: Dabigatran etexilate was antagonized with idarucizumab, approximately 2...
May 4, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28477351/normalization-of-timed-neuropsychological-tests-with-the-pata-rate-and-nine-hole-pegboard-tests
#10
Francesco Saccà, Teresa Costabile, Filomena Abate, Agnese Liguori, Francesca Paciello, Chiara Pane, Anna De Rosa, Fiore Manganelli, Giuseppe De Michele, Alessandro Filla
INTRODUCTION: Despite neurological patients show frequent physical impairment, timed neuropsychological tests do not take this into account during scoring procedures. OBJECTIVE: We propose a normalization method based on the PATA Rate Task (PRT) and on the nine-hole pegboard test (9HPT) as a measure of dysarthria and upper limb dysfunction. METHODS: We tested 65 healthy controls on timed neuropsychological tests (Attentional Matrices [AM], Trail Making Test, Symbol Digit Modalities Test, Verbal Fluencies) to determine the time spent on phonation or on hand movement during test execution...
May 6, 2017: Journal of Neuropsychology
https://www.readbyqxmd.com/read/28474131/dysphagia-in-friedreich-ataxia
#11
Megan J Keage, Martin B Delatycki, Isabelle Gupta, Louise A Corben, Adam P Vogel
The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during swallowing. We also investigated the psychosocial impact of dysphagia on individuals with FRDA. Sixty participants with FRDA were screened for dysphagia using a swallowing quality of life questionnaire (Swal-QOL) and case history. Individuals reporting dysphagia underwent a standardised oromotor assessment (Frenchay Dysarthria Assessment, 2, FDA-2) and videofluoroscopic study of swallowing (VFSS)...
May 4, 2017: Dysphagia
https://www.readbyqxmd.com/read/28469667/transplantation-of-autologous-peripheral-blood-mononuclear-cells-in-the-subarachnoid-space-for-amyotrophic-lateral-sclerosis-a-safety-analysis-of-14-patients
#12
Xiao-Yan Li, Zhan-Hua Liang, Chao Han, Wen-Juan Wei, Chun-Li Song, Li-Na Zhou, Yang Liu, Ying Li, Xiao-Fei Ji, Jing Liu
There is a small amount of clinical data regarding the safety and feasibility of autologous peripheral blood mononuclear cell transplantation into the subarachnoid space for the treatment of amyotrophic lateral sclerosis. The objectives of this retrospective study were to assess the safety and efficacy of peripheral blood mononuclear cell transplantation in 14 amyotrophic lateral sclerosis patients to provide more objective data for future clinical trials. After stem cell mobilization and collection, autologous peripheral blood mononuclear cells (1 × 10(9)) were isolated and directly transplanted into the subarachnoid space of amyotrophic lateral sclerosis patients...
March 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28467418/a-kcnc3-mutation-causes-a-neurodevelopmental-non-progressive-sca13-subtype-associated-with-dominant-negative-effects-and-aberrant-egfr-trafficking
#13
Swati Khare, Jerelyn A Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha Hathorn, Laura P W Ranum, Lisa Smithson, Todd E Golde, Martin Paucar, Richard Morse, Michael Raff, Julie Simon, Magnus Nordenskjöld, Karin Wirdefeldt, Diego E Rincon-Limas, Jada Lewis, Leonard K Kaczmarek, Pedro Fernandez-Funez, Harry S Nick, Michael F Waters
The autosomal dominant spinocerebellar ataxias (SCAs) are a diverse group of neurological disorders anchored by the phenotypes of motor incoordination and cerebellar atrophy. Disease heterogeneity is appreciated through varying comorbidities: dysarthria, dysphagia, oculomotor and/or retinal abnormalities, motor neuron pathology, epilepsy, cognitive impairment, autonomic dysfunction, and psychiatric manifestations. Our study focuses on SCA13, which is caused by several allelic variants in the voltage-gated potassium channel KCNC3 (Kv3...
2017: PloS One
https://www.readbyqxmd.com/read/28461905/dystonic-storm-a-practical-clinical-and-video-review
#14
REVIEW
Pichet Termsarasab, Steven J Frucht
Dystonic storm is a frightening hyperkinetic movement disorder emergency. Marked, rapid exacerbation of dystonia requires prompt intervention and admission to the intensive care unit. Clinical features of dystonic storm include fever, tachycardia, tachypnea, hypertension, sweating and autonomic instability, often progressing to bulbar dysfunction with dysarthria, dysphagia and respiratory failure. It is critical to recognize early and differentiate dystonic storm from other hyperkinetic movement disorder emergencies...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28443623/novel-slc25a32-mutation-in-a-patient-with-a-severe-neuromuscular-phenotype
#15
Debby M E I Hellebrekers, Suzanne C E H Sallevelt, Tom E J Theunissen, Alexandra T M Hendrickx, Ralph W Gottschalk, Janneke G J Hoeijmakers, Daphna D Habets, Jörgen Bierau, Kees G Schoonderwoerd, Hubert J M Smeets
In a 51-year-old patient of consanguineous parents with a severe neuromuscular phenotype of early-onset ataxia, myoclonia, dysarthria, muscle weakness and exercise intolerance, exome sequencing revealed a novel homozygous variant (c.-264_31delinsCTCACAAATGCTCA) in the mitochondrial FAD-transporter gene SLC25A32. Flavin adenine dinucleotide (FAD) is an essential co-factor for many mitochondrial enzymes and impaired mitochondrial FAD-transport was supported by a reduced oxidative phosphorylation complex II activity in the patient's muscle, decreased ATP production in fibroblasts, and a deficiency of mitochondrial FAD-dependent enzymes...
April 26, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28443187/treatment-with-penicillin-g-and-hydrocortisone-reduces-als-associated-symptoms-a-case-series-of-three-patients
#16
Bert Tuk, Harmen Jousma, Pieter J Gaillard
Three male Caucasian patients with ALS were admitted to the hospital due to progressive dysphagia and dysarthria. During two 21-day courses of penicillin G and hydrocortisone, these patients' dysphagia and dysarthria resolved. The patient's other ALS-associated symptoms also improved, including respiratory function, coordination, walking, and muscle strength. This is the first report of a treatment with a protocol for treating dysphagia, dysarthria, respiratory depression and other ALS-related symptoms. Furthermore, the observations are consistent with the recent hypothesis that the successful treatment of ALS symptoms with this treatment course in six patients with syphilitic ALS was not directly due to the treatment of syphilis; but that the administered penicillin G and/or hydrocortisone treated these patients' ALS symptoms due the off-target pharmacological activity of penicillin G and/or hydrocortisone...
2017: F1000Research
https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#17
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28433096/wilson-disease-neurologic-features
#18
Anna Członkowska, Tomasz Litwin, Grzegorz Chabik
Wilson disease (WD) is a neurodegenerative disorder, which presents as a spectrum of neurologic manifestations that includes tremor, bradykinesia, rigidity, dystonia, chorea, dysarthria, and dysphagia, together with a combination of neurologic symptoms that can easily lead to misdiagnosis. An early diagnosis of WD, and appropriate anticopper treatment, usually leads to a marked improvement in patient health. Conversely, delayed diagnosis can result in persistent pathology, which, left untreated, can ultimately prove lethal...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28427701/multiple-sclerosis-showing-elevation-of-adenosine-deaminase-levels-in-the-cerebrospinal-fluid
#19
Miharu Samuraki, Kenji Sakai, Yasuko Odake, Mitsuhiro Yoshita, Kouichi Misaki, Mitsutoshi Nakada, Masahito Yamada
An 80-year-old man developed dysarthria, quadriplegia, sensory disturbance and ataxia in all limbs. Brain and spinal magnetic resonance imaging (MRI) revealed multiple enhanced lesions. Cerebrospinal fluid (CSF) levels of adenosine deaminase (ADA) remarkably elevated. Tuberculosis DNA was not detected, and tuberculosis was not cultured either in the CSF. Brain biopsy revealed the inflammatory demyelinating lesions. With the diagnosis of multiple sclerosis, corticosteroid therapy resulted in rapid improvement of his symptoms and MRI abnormalities...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28422031/the-importance-of-labyrinthine-examination-in-the-prognosis-and-therapy-for-balance-in-spinocerebellar-ataxia
#20
João Henrique Faryniuk, Bianca Simone Zeigelboim, Hélio Afonso Ghizoni Teive, Vinicius Ribas Fo, Paulo Breno Noronha Liberalesso, Jair Mendes Marques
INTRODUCTION: Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases that are characterized by the presence of progressive cerebellar ataxia. OBJECTIVE: Identify vestibular disorders and demonstrate the importance of labyrinthine examination in the prognosis and therapy for balance in patients with SCAs. MATERIALS AND METHODS: The study had a retrospective cross-sectional design and evaluated 57 patients, mean age of 41...
April 19, 2017: International Tinnitus Journal
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