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https://www.readbyqxmd.com/read/28821018/a-cross-language-study-of-acoustic-predictors-of-speech-intelligibility-in-individuals-with-parkinson-s-disease
#1
Yunjung Kim, Yaelin Choi
Purpose: The present study aimed to compare acoustic models of speech intelligibility in individuals with the same disease (Parkinson's disease [PD]) and presumably similar underlying neuropathologies but with different native languages (American English [AE] and Korean). Method: A total of 48 speakers from the 4 speaker groups (AE speakers with PD, Korean speakers with PD, healthy English speakers, and healthy Korean speakers) were asked to read a paragraph in their native languages...
August 18, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28819072/-overview-of-hereditary-spinocerebellar-ataxias-in-japan
#2
Masayoshi Tada, Akio Yokoseki, Osamu Onodera
Hereditary spinocerebellar degenerations (SCD) are a group of neurodegenerative disorders characterized by slowly progressive ataxia associated with non-cerebellar neurological signs and symptoms. In the Japanese population, dominantly inherited SCDs are much more common than recessively inherited or X-linked SCDs. The most common dominantly inherited SCD in Japan, as well as in many other countries, is Machado-Joseph disease, also known as spinocerebellar ataxia type 3 (MJD/SCA3). MJD/SCA3 is frequently accompanied by non-cerebellar symptoms, including progressive external ophthalmoplegia, pyramidal signs, dystonia, rigidity, dysarthria, and distal muscle atrophies...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28810563/dystrophia-myotonica-type-1-presenting-with-dysarthria-a-case-report-and-literature-review
#3
Chunrong Li, Xiaoling Zhang, Chunkui Zhou, Lijun Zhu, Kangding Liu, Shaokuan Fang
Dystrophia myotonica (DM) type 1 is an autosomal dominant disorder, caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene (chromosome 19q13.3). The disorder affects different organ systems, including the skeletal muscles, ocular lens, lungs, heart and gastrointestinal tract, as well as the endocrine and central nervous systems. The skeletal muscles are most frequently involved, whereby the disorder manifests as myotonia, muscle weakness and amyotrophy...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28805093/monitoring-disease-progression-in-spinocerebellar-ataxias-implications-for-treatment-and-clinical-research
#4
Lidia Sarro, Lorenzo Nanetti, Anna Castaldo, Caterina Mariotti
Spinocerebellar ataxias (SCAs) are autosomal dominant diseases characterized by progressive gait and limb incoordination, disequilibrium, dysarthria, and eye movement disturbances. Approximately 40 genetic subtypes of SCAs are known and classified according to the causative disease gene/locus. With the possibility of the specific genetic diagnosis in patients and at-risk family members, several clinical scales and functional tests have been validated and used in ataxic patients with the purposes of measuring the entity of disease progression in natural history studies and the possible slowing of neurological impairment in therapeutic trials...
August 13, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/28801329/postcardiac-injury-syndrome-and-stroke-following-permanent-pacemaker-insertion
#5
Caitlin Bialy, Edmund Wee, Nizam Uddin
An 80-year-old woman initially presented with an episode of pleuritic chest pain 10 days after implantation of a dual chamber permanent pacemaker. She returned to hospital a day later with vomiting and fever. She was found to have new atrial fibrillation in addition to right-sided weakness and dysarthria. An infarct in the left anterior inferior cerebellar artery territory was later confirmed on CT. She continued to have recurrent febrile episodes associated with vomiting and dyspnoea. Extensive investigations for infection were negative, and her symptoms were initially attributed to aspiration pneumonia...
August 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28801086/slowly-progressive-leukodystrophy-in-an-adolescent-male-with-phosphoglycerate-kinase-deficiency
#6
Shimpei Baba, Ayumi Kobayashi, Haruna Yokoyama, Kengo Moriyama, Ayako Kashimada, Jun Oyama, Ayako Owada, Shoichi Oyama, Tomohiro Morio, Masatoshi Takagi
We report the case of an 18-year-old man with a phosphoglycerate kinase (PGK) deficiency who had slowly progressive leukodystrophy during adolescence. The patient had a history of severe neonatal jaundice, hemolytic crisis with rhabdomyolysis triggered by febrile viral infections, dysarthria, and intellectual disability during early childhood. Clumsiness in walking and writing became obvious at ∼10years of age. Evaluations performed by us on the 18-year-old patient confirmed the presence of pyramidal tract signs, increased muscle tone, and generalized dystonia...
August 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28792617/distinctive-cerebral-neuropathology-in-an-adult-case-of-sando-syndrome
#7
Daniel Kirschenbaum, Carola Hedberg-Oldfors, Anders Oldfors, Eduard Scherer, Herbert Budka
The syndrome of sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO), defined genetically by mutations of the gene for the mitochondrial DNA polymerase-γ, POLG, was first described in 1997 (1). Since then, several case reports with various POLG, or more rarely PEO1, mutations have been published (2-4), some specifically addressing muscle and nerve pathology (1, 3), nerve electrophysiology (5), or radiological aspects (4, 6, 7). This article is protected by copyright. All rights reserved.
August 9, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28790216/-a-case-of-tentorial-dural-arteriovenous-fistula-treated-with-transvenous-embolization-using-nbca
#8
Hirokazu Nishiyama, Hiroyuki Matsumoto, Yoshiaki Tetsuo, Hideki Takemoto, Naoyuki Nakao
We report a case of tentorial dural arteriovenous fistula(dAVF)treated with transarterial and transvenous embolization using n-butyl-2-cyanoacrylate(NBCA). A 70-year-old man presented with dysarthria and trunk ataxia. Computed tomography(CT)on admission revealed right cerebellar hemorrhage. Right external carotid angiography demonstrated a tentorial dAVF fed by the marginal tentorial artery, petrosquamous branch of the middle meningeal artery, ascending pharyngeal artery, and artery of foramen rotundum. Right internal carotid angiography demonstrated a shunt fed by the meningohypophyseal trunk...
August 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28772293/speech-language-pathologists-use-of-intelligibility-measures-in-adults-with-dysarthria
#9
Naomi Gurevich, Sydney L Scamihorn
Purpose: Speech-language pathologists (SLPs) who work with adults with dysarthria were surveyed to investigate trends of clinical practice for assessing speech intelligibility. Method: Two hundred ninety-six SLPs responded to an online survey October 22-November 30, 2015. Results: Findings showed that 35% of SLPs lacked access to any standardized assessments of intelligibility, with 66% of these implicating cost as the main reason. Work settings played a role, as all SLPs working in Veterans Affairs hospitals and 97% of SLPs working in university or research clinics reported access to at least one formal assessment...
August 15, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28767196/two-unrelated-children-with-overlapping-6q25-3-deletions-motor-speech-disorders-and-language-delays
#10
Beate Peter, Hope Lancaster, Caitlin Vose, Amna Fares, Isabelle Schrauwen, Matthew Huentelman
Interstitial and terminal 6q25 deletions are associated with developmental delays, hypotonia, eye pathologies, craniofacial dysmorphologies, and structural brain anomalies. In most cases, speech and language deficits are not described in detail. We report on a case (Patient 1, age 7 years) with a de novo 6q25.3-qter deletion, 11.1 Mb long and encompassing 108 genes, and a case (Patient 2, age 5 years) with an inherited interstitial 6q25.3 deletion, located within Patient 1's deletion region and 403 kb long, the smallest 6q25 deletion reported to date...
August 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28765176/transient-clinical-improvement-of-a-mitochondrial-neurogastrointestinal-encephalomyopathy-like-syndrome-after-allogeneic-haematopoietic-stem-cell-transplantation
#11
Malcolm Kevin Baker, Clara Maria Schutte, Neelay Ranchhod, David Brittain, J E van Rensburg
Mitochondrial neurogastrointestinal encephalopathy (MNGIE), usually an autosomal-recessive inherited condition, causes gastrointestinal dysmotility, ophthalmoplegia, ptosis, leukoencephalopathy and neuropathy. The chromosome 22 disorder, due to mutations in the nuclear gene TYMP encoding thymidine phosphorylase (TP), leads to the accumulation of thymidine and deoxyuridine, with mitochondrial dysfunction.This report describes a patient with an MNGIE-like syndrome with a heterozygous TYMP mutation who showed marked, but transient improvement postallogeneic haematopoietic stem cell transplantation (HSCT)...
August 1, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28763804/neurogenic-orofacial-weakness-and-speech-in-adults-with-dysarthria
#12
Nancy Pearl Solomon, Matthew J Makashay, Leah B Helou, Heather M Clark
Purpose: This study compared orofacial strength between adults with dysarthria and neurologically normal (NN) matched controls. In addition, orofacial muscle weakness was examined for potential relationships to speech impairments in adults with dysarthria. Method: Matched groups of 55 adults with dysarthria and 55 NN adults generated maximum pressure (Pmax) against an air-filled bulb during lingual elevation, protrusion and lateralization, and buccodental and labial compressions...
August 15, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28761904/iglon5-antibody-neurological-accompaniments-and-outcomes-in-20-patients
#13
Josephe A Honorat, Lars Komorowski, Keith A Josephs, Kai Fechner, Erik K St Louis, Shannon R Hinson, Sabine Lederer, Neeraj Kumar, Avi Gadoth, Vanda A Lennon, Sean J Pittock, Andrew McKeon
OBJECTIVE: To describe the phenotypes, treatment response, and outcome of IgLON5 autoimmunity. METHODS: Archived serum and CSF specimens from 367 patients known to harbor unclassified antibodies which stained neural synapses diffusely (mimicking amphiphysin-IgG) were reevaluated by indirect immunofluorescence assay (IFA) using a composite of mouse tissues and recombinant IgLON5-transfected cell-based assay (CBA, Euroimmun). RESULTS: Available specimens (serum, 25; CSF, 9) from 26/367 patients (7%) had identical IFA appearance and robust IgLON5 CBA positivity...
September 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28761525/the-minipterional-approach-for-ruptured-and-unruptured-anterior-circulation-aneurysms-our-initial-experience
#14
Kenan A Alkhalili, Jack R Hannallah, Gasser H Alshyal, Mohab M Nageeb, Khaled M Abdel Aziz
OBJECTIVE: To report our experience with the minipterional (MPT) craniotomy approach for anterior circulation aneurysms and to discuss the clinical outcomes as well as to evaluate the advantages of this unique approach. MATERIALS AND METHODS: Single-center retrospective review of 57 cases involving anterior circulation aneurysms both ruptured and unruptured aneurysms treated with the MPT. We analyzed the clinical and patient demographic data, aneurysm characteristics, surgical outcomes, and complications in these individuals...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28751535/how-to-use-tests-for-disorders-of-copper-metabolism
#15
Jane Armer, Christian De Goede
In paediatrics, one of our main aims in the diagnostic process is to identify any treatable conditions. The copper metabolism disorder Wilson's disease (WD) is one such condition that is caused by mutations in the ATP7B gene. Delay in treatment could result in irreversible disability or even death. Although liver disease is the most common presenting feature in children, some children may initially present with a subtle neurological presentation only. In patients presenting with dystonia, tremor, dysarthria or with a deterioration in school performance, there should be a high index of suspicion for WD...
July 27, 2017: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/28748851/insights-into-initial-demyelinating-episodes-of-central-nervous-system-during-puerperium
#16
Qian Wu, Bo Chen, Na Liu, Yang Hu, Chao Pan, Ping Zhang, Zhou-Ping Tang, Bi-Tao Bu
BACKGROUND: Inflammatory demyelinating disease of central nervous system (CNS) is an inflammatory disease characterized by a high childbearing female predominance. Labor-related alterations for postpartum demyelinating attacks are not entirely clear. This study aimed to summarize clinical features of female patients of reproductive age with initial CNS inflammatory demyelinating attacks during puerperium. METHODS: Fourteen female patients with initial demyelinating events during puerperium between January 2013 and December 2016 were retrospectively studied...
August 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28748108/readyspeech-for-people-with-dysarthria-after-stroke-protocol-for-a-feasibility-randomised-controlled-trial
#17
Claire Mitchell, Audrey Bowen, Sarah Tyson, Paul Conroy
BACKGROUND: Dysarthria, a disordered speech production resulting from neuro-muscular impairment, is a common symptom after stroke. It causes significant problems for patients' speech intelligibility, communication, psychological well-being, social engagement and stroke recovery. Rehabilitation for dysarthria is variable in quality, intensity and duration, which may be, in part, due to the lack of good quality evidence. An online therapy programme, ReaDySpeech, has the potential to improve quality, intensity and duration of speech rehabilitation and was considered in a proof-of-concept study to be acceptable to speech and language therapists and patients which warranted further evaluation...
2018: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/28744047/effects-of-lingual-strength-training-on-lingual-strength-and-articulator-function-in-stroke-patients-with-dysarthria
#18
Jong Hoon Moon, Deok Gi Hong, Kye Ho Kim, Yo An Park, Suk-Chan Hahm, Sung-Jin Kim, Young Sik Won, Hwi-Young Cho
[Purpose] This study investigated the effects of lingual strength training (LST) on lingual strength and articulator function in stroke patients with dysarthria. [Subjects and Methods] 16 stroke patients with dysarthria were randomly assigned into two groups: the experimental group (n=8) or the control group (n=8). Both groups received the conventional rehabilitation therapy at 30 min/day, 5 times for week, and during 4 weeks, and the experimental group received an additional 30 min of LST using the Iowa Oral Performance Instrument (IOPI)...
July 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28740841/migrainous-infarction-a-rare-and-often-overlooked-diagnosis
#19
REVIEW
Gabriel Afonso Dutra Kreling, Neuro Rodrigues de Almeida, Pedro José Dos Santos
Migraine is a neurological entity and a well-known independent risk factor for cerebral infarction, which mostly afflicts the young female population. Researching focal neurological signs in this subset of the population with the diagnosis of a neurological ischemic event should always take into account the migraine as the etiology or as an associated factor. The etiology of central nervous system (CNS) ischemia is considerable. Migraine, although rare, also may be included in this vast etiological range, which is called migrainous infarction...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28739363/involvement-of-cerebellum-in-leigh-syndrome-case-report-and-review-of-the-literature
#20
Nitish Chourasia, Rahmat B Adejumo, Rajan P Patel, Mary Kay Koenig
BACKGROUND: Leigh syndrome is an early-onset progressive neurodegenerative disorder typically involving lesions of the bilateral basal ganglia, thalami, and brainstem. Isolated involvement of the cerebellum is uncommon. PATIENT DESCRIPTION: We present a six-year-old boy with Leigh syndrome who presented with recurrent episodes of ataxia and dysarthria. He was diagnosed with Leigh syndrome at two years of age with bilateral basal ganglia lesions on brain magnetic resonance imaging (MRI)...
September 2017: Pediatric Neurology
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