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https://www.readbyqxmd.com/read/29036832/neuropathological-comparison-of-adult-onset-and-juvenile-huntington-s-disease-with-cerebellar-atrophy-a-report-of%C3%A2-a%C3%A2-father-and-son
#1
Caitlin S Latimer, Margaret E Flanagan, Patrick J Cimino, Suman Jayadev, Marie Davis, Zachary S Hoffer, Thomas J Montine, Luis F Gonzalez-Cuyar, Thomas D Bird, C Dirk Keene
BACKGROUND: Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a trinucleotide (CAG) repeat expansion in huntingtin (HTT) on chromosome 4. Anticipation can cause longer repeat expansions in children of HD patients. Juvenile Huntington's disease (JHD), defined as HD arising before age 20, accounts for 5-10% of HD cases, with cases arising in the first decade accounting for approximately 1%. Clinically, JHD differs from the predominately choreiform adult onset Huntington's disease (AOHD) with variable presentations, including symptoms such as myoclonus, seizures, Parkinsonism, and cognitive decline...
October 11, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29036831/dementia-pugilistica-revisited
#2
Rudy J Castellani, George Perry
 Extensive exposure of boxers to neurotrauma in the early 20th century led to the so-called punch drunk syndrome, which was formally recognized in the medical literature in 1928. "Punch drunk" terminology was replaced by the less derisive 'dementia pugilistica' in 1937. In the early case material, the diagnosis of dementia pugilistica required neurological deficits, including slurring dysarthria, ataxia, pyramidal signs, extrapyramidal signs, memory impairment, and personality changes, although the specific clinical substrate has assumed lesser importance in recent years with a shift in focus on molecular pathogenesis...
October 8, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29036757/a-case-of-medullary-infarction-presented-initial-symptoms-similar-to-meniere-s-disease
#3
Jang Hee Park, Dong Hyun Kim, Jae Moon Sung, Chang Woo Kim
Fluctuating hearing loss and vertigo are the typical presentations of Meniere's disease. However, it is unusual that fluctuating hearing loss and vertigo are caused by vertebral artery occlusion or cerebral infarction. Here, we described the case of a 54-year-old male patient with hypertension and diabetes mellitus who presented with fluctuating hearing loss in his left ear and severe whirling-type dizziness without associated neurological signs or symptoms. Temporal magnetic resonance imaging (MRI) was normal...
October 17, 2017: Journal of Audiology & Otology
https://www.readbyqxmd.com/read/29025774/posterior-fossa-progressive-multifocal-leukoencephalopathy-first-presentation-of-an-unknown-autoimmune-disease
#4
Paulette Scholten, Peter Kralt, Bram Jacobs
We present a case of a 57-year-old man who presented with progressive cerebellar dysarthria and cerebellar ataxia. Additional investigations confirmed the diagnosis of progressive multifocal leukoencephalopathy (PML) in the posterior fossa. This is a demyelinating disease of the central nervous system, caused by an opportunistic infection with John Cunningham virus. PML has previously been considered a lethal condition, but because of careful monitoring of patients with HIV and of patients using immunosuppressive drugs it is discovered in earlier stages and prognosis can be improved...
October 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29018506/clinical-features-and-surgical-treatment-of-schwannoma-affecting-the-base-of-the-tongue-a-systematic-review
#5
REVIEW
Jenna Lamendola Sitenga, Gregory Alan Aird, Austin Nguyen, Adam Vaudreuil, Christopher Huerter
Introduction  Schwannomas of the head and neck account for 25-40% of all cases, with presentation at the base of the tongue as the most frequent site for intraoral tumors. Objectives  Here, a systematic review was conducted to include 15 cases of patients with schwannoma of the base of the tongue. Data Synthesis  Most patients presented with a single, painless, well-encapsulated nodule at the base of the tongue. These nodules were slow-growing, with an average of 13.3 months from onset to presentation...
October 2017: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/28988185/longer-term-needs-of-stroke-survivors-with-communication-difficulties-living-in-the-community-a-systematic-review-and-thematic-synthesis-of-qualitative-studies
#6
Faye Wray, David Clarke
OBJECTIVE: To review and synthesise qualitative literature relating to the longer-term needs of community dwelling stroke survivors with communication difficulties including aphasia, dysarthria and apraxia of speech. DESIGN: Systematic review and thematic synthesis. METHOD: We included studies employing qualitative methodology which focused on the perceived or expressed needs, views or experiences of stroke survivors with communication difficulties in relation to the day-to-day management of their condition following hospital discharge...
October 6, 2017: BMJ Open
https://www.readbyqxmd.com/read/28983422/speech-language-pathology-evaluation-and-management-of-hyperkinetic-disorders-affecting-speech-and-swallowing-function
#7
REVIEW
Julie M Barkmeier-Kraemer, Heather M Clark
BACKGROUND: Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition. Speech-language pathologists (SLPs) play an important role in the evaluation and management of dysarthria and dysphagia. This review describes the standard clinical evaluation and treatment approaches by SLPs for addressing impaired speech and deglutition in specific hyperkinetic dysarthria populations. METHODS: A literature review was conducted using the data sources of PubMed, Cochrane Library, and Google Scholar...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28983379/hypoglossal-nerve-mononeuropathy-as-the-first-presenting-symptom-of-progressing-multiple-myeloma
#8
Neil B Newman, Vidya Puthenpura, Stephanie Mischell, Gabriela Ferreira
Multiple myeloma (MM) rarely presents with a primary neurological dysfunction, and if it does it is usually due to a plasmacytoma. This is the first case to discuss hypoglossal nerve dysfunction as the first sign of MM progression secondary to severe pathophysiologic bone lysis. A PubMed-based literature search was completed on April 17, 2016 for the terms "multiple myeloma" and "hypoglossal nerve neuropathy". A 73-year-old woman with known MM who received little treatment for several years, presented secondary to dysarthria and at first was thought to have hyperviscosity syndrome...
February 2017: World Journal of Oncology
https://www.readbyqxmd.com/read/28980624/amyotrophic-lateral-sclerosis
#9
REVIEW
Orla Hardiman, Ammar Al-Chalabi, Adriano Chio, Emma M Corr, Giancarlo Logroscino, Wim Robberecht, Pamela J Shaw, Zachary Simmons, Leonard H van den Berg
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized by the degeneration of both upper and lower motor neurons, which leads to muscle weakness and eventual paralysis. Until recently, ALS was classified primarily within the neuromuscular domain, although new imaging and neuropathological data have indicated the involvement of the non-motor neuraxis in disease pathology. In most patients, the mechanisms underlying the development of ALS are poorly understood, although a subset of patients have familial disease and harbour mutations in genes that have various roles in neuronal function...
October 5, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28969752/prosthodontic-management-of-palatopharyngeal-incompetency-a-case-report-on-palatal-lift-prosthesis
#10
Syed Murtaza Raza Kazmi, Zahid Iqbal
The palatal lift prostheses (PLP) are commonly used in the prosthetic management of palatopharyngeal incompetency. These prostheses work by lifting the soft palate upward and backward and also have physical and psychological benefits. In this case report, a PLPwas provided to the patient for her speech problems. The soft palate was mechanically lifted upward and backward. PLPreduced the diameter of palatopharyngeal sphincter. This decreased the dysarthria and led to an increase in patient confidence. Surgically repaired cleft palate of this patient with hyper-nasality was successfully managed with PLP...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28962210/three-sporadic-cases-of-creutzfeldt-jakob-disease-in-china-and-their-clinical-analysis
#11
Xingbang Wang, Na Li, Aifen Liu, Lin Ma, Peiyan Shan, Wenjing Jiang, Qun Zhang
The present study described the characteristics of three cases of Creutzfeldt-Jakob disease (CJD) in China and analyzed their clinical presentations. The clinical information of the three cases was collected and analyzed. Blood and cerebrospinal fluid (CSF) specimens of the patients were collected for detection of the prion protein (PRNP) gene and 14-3-3 protein levels. Dynamic changes of electroencephalograms (EEGs) and brain magnetic resonance images (MRIs) were also observed. All the three cases were sporadic CJD cases...
September 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28960048/coexistence-of-radiation-induced-meningioma-and-moyamoya-syndrome-10-years-after-irradiation-against-medulloblastoma-a-case-report
#12
Ji Yeon Han, Jung Won Choi, Kyu Chang Wang, Ji Hoon Phi, Ji Yeoun Lee, Jong Hee Chae, Sung Hye Park, Jung Eun Cheon, Seung Ki Kim
Radiotherapy is one of the standard treatments for medulloblastoma. However, therapeutic central nervous system irradiation in children may carry delayed side effects, such as radiation-induced tumor and vasculopathy. Here, we report the first case of coexisting meningioma and moyamoya syndrome, presenting 10 years after radiotherapy for medulloblastoma. A 13-year-old boy presented with an enhancing mass at the cerebral falx on magnetic resonance imaging (MRI) after surgery, radiotherapy (30.6 Gy craniospinal axis, 19...
November 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28949263/reference-values-of-maximum-performance-tests-of-speech-production
#13
Simone Knuijt, Johanna Kalf, Baziel Van Engelen, Alexander Geurts, Bert de Swart
PURPOSE: Maximum performance tests examine upper limits of speech motor performance, as used by speech-language pathologists in dysarthria assessment protocols. The Radboud Dysarthria Assessment includes maximum repetition rate, maximum phonation time, fundamental frequency range and maximum phonation volume to assist in detecting pathological performance. This study aims to obtain reference values for each of these tests. METHOD: A group of 224 healthy Dutch adults aged 18-80 years performed the maximum performance tests...
September 26, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28933964/identification-of-novel-spg11-mutations-in-a-cohort-of-chinese-families-with-hereditary-spastic-paraplegia
#14
Juan Du, Ya-Cen Hu, Bei-Sha Tang, Hong Jiang, Lu Shen
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological diseases. To date, studies about Chinese ARHSP have been small and limited to single case. To fill this gap, we have scanned the whole exons of KIAA1840, ZFYVE26, SPG7 and CYP7B1 genes in a group of 36 unrelated ARHSP families, which is the first study conducted to investigate the mutation frequency of these ARHSP types in China. Finally, SPG11 mutations are found in 33.33% (12/36) of ARHSP patients in our study, and no mutation was identified in SPG15, SPG5 or SPG7 genes...
September 21, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28917165/cerebellar-induced-differential-polyglot-aphasia-a-neurolinguistic-and-fmri-study
#15
Peter Mariën, Kim van Dun, Johanna Van Dormael, Dorien Vandenborre, Stefanie Keulen, Mario Manto, Jo Verhoeven, Jubin Abutalebi
Research has shown that linguistic functions in the bilingual brain are subserved by similar neural circuits as in monolinguals, but with extra-activity associated with cognitive and attentional control. Although a role for the right cerebellum in multilingual language processing has recently been acknowledged, a potential role of the left cerebellum remains largely unexplored. This paper reports the clinical and fMRI findings in a strongly right-handed (late) multilingual patient who developed differential polyglot aphasia, ataxic dysarthria and a selective decrease in executive function due to an ischemic stroke in the left cerebellum...
September 13, 2017: Brain and Language
https://www.readbyqxmd.com/read/28895098/recurrent-cerebral-attack-caused-by-thrombosis-in-the-pulmonary-vein-stump-in-a-patient-with-left-upper-lobectomy-on-anticoagulant-therapy-case-report-and-literature-review
#16
Takahito Nakano, Mayumi Inaba, Hiroyuki Kaneda
BACKGROUND: Thrombus formation in the pulmonary vein stump after pulmonary resection has recently been identified as a cause of systemic thrombosis including brain infarction. However, there is limited research focusing on the clinical course of pulmonary vein stump thrombus, and optimal treatment and prevention strategies of this important complication have not been established. CASE PRESENTATION: A 77-year-old woman was diagnosed with lung cancer of the left upper lobe, cT4N2M0, cStage IIIB...
September 11, 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28893803/pure-red-cell-aplasia-and-myasthenia-gravis-a-patient-having-both-autoimmune-conditions-in-the-absence-of-thymoma
#17
Annelise Aquilina, David James Camilleri, Josanne Aquilina
This is a patient who was presented initially with symptoms of malaise, tiredness and exertional dyspnoea and found to have a severe normocytic normochromic anaemia with low reticulocyte counts. Bone marrow confirmed the diagnosis of pure red cell aplasia (PRCA) and at the time serology for recent parvovirus infection was positive. He was successfully treated with transfusions and intravenous Ig. Six years later, he had a mild relapse of his PRCA and subsequently developed severe dysphagia and dysarthria which were fatigable...
September 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28881514/-phenotypic-and-genotypic-features-of-twenty-children-with-classic-pantothenate-kinase-associated-neurodegeneration
#18
J Zhou, J He, L P Kou, H C Feng, Y H Deng, Z B Zhang, L Zhou, J M Wang, Y W Jiang, Y Wu
Objective: To explore the phenotypic and genotypic characteristics in Chinese children with classic pantothenate kinase-associated neurodegeneration (PKAN). Method: The clinical, radiographic and genetic data of all PKAN patients diagnosed at pediatric department of Peking University First Hospital from November 2006 to December 2016 were retrospectively collected and analyzed. Result: Twenty patients with classic PKAN were included in the study. The median age at onset was 3.5 years (ranging from 1.0 to 10...
September 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28878734/speech-and-voice-response-to-a-levodopa-challenge-in-late-stage-parkinson-s-disease
#19
Margherita Fabbri, Isabel Guimarães, Rita Cardoso, Miguel Coelho, Leonor Correia Guedes, Mario M Rosa, Catarina Godinho, Daisy Abreu, Nilza Gonçalves, Angelo Antonini, Joaquim J Ferreira
BACKGROUND: Parkinson's disease (PD) patients are affected by hypokinetic dysarthria, characterized by hypophonia and dysprosody, which worsens with disease progression. Levodopa's (l-dopa) effect on quality of speech is inconclusive; no data are currently available for late-stage PD (LSPD). OBJECTIVE: To assess the modifications of speech and voice in LSPD following an acute l-dopa challenge. METHOD: LSPD patients [Schwab and England score <50/Hoehn and Yahr stage >3 (MED ON)] performed several vocal tasks before and after an acute l-dopa challenge...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28876371/group-climate-in-the-voice-therapy-of-patients-with-parkinson-s-disease
#20
Giovana Diaféria, Glaucya Madazio, Claudia Pacheco, Patricia Barbarini Takaki, Mara Behlau
Purpose: To verify the impact that group dynamics and coaching strategies have on the PD patients voice, speech and communication, as well as the group climate. Methods: 16 individuals with mild to moderate dysarthria due to the PD were divided into two groups: the CG (8 patients), submitted to traditional therapy with 12 regular therapy sessions plus 4 additional support sessions; and the EG (8 patients), submitted to traditional therapy with 12 regular therapy sessions plus 4 sessions with group dynamics and coaching strategies...
September 4, 2017: CoDAS
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