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https://www.readbyqxmd.com/read/29681825/arterial-spin-labeling-imaging-of-a-giant-aneurysm-leading-to-subarachnoid-hemorrhage-following-cerebral-infarction
#1
Tatsuya Ueno, Tatsuya Sasaki, Masatoshi Iwamura, Tomoya Kon, Jin-Ichi Nunomura, Hiroshi Midorikawa, Masahiko Tomiyama
An 83-year-old Japanese man was admitted with dysarthria and right hemiparesis. He had had a large intracranial aneurysm on the left internal carotid artery 5 years before admission and had been followed up under conservative treatment. On admission, diffusion-weighted imaging revealed a hyperintense signal on the left anterior choroidal artery territory. Time-of-flight magnetic resonance angiography demonstrated poor visibility of the middle and anterior cerebral arteries and the inferior giant aneurysm, suggesting distal emboli from aneurysm thrombosis or a reduction of blood outflow due to aneurysm thrombosis...
January 2018: Case Reports in Neurology
https://www.readbyqxmd.com/read/29681419/physostigmine-reversal-of-dysarthria-and-delirium-after-iatrogenic-atropine-overdose-from-a-dental-procedure
#2
Jon B Cole, Benjamin S Orozco, Ann M Arens
BACKGROUND: Sublingual atropine, dosed at 0.4-0.8 mg, is used by dentists as an antisialogogue to facilitate and increase the speed of procedures. Concentrated ophthalmic atropine drops (10 mg/mL) are commonly used off-label for this purpose. These highly concentrated drops may result in medication errors, atropine toxicity, and the antimuscarinic toxidrome. We report a case of a man who suffered acute delirium and dysarthria (from dry mouth) after an iatrogenic overdose from a dental procedure...
April 19, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29656311/consensus-paper-neurophysiological-assessments-of-ataxias-in-daily-practice
#3
REVIEW
W Ilg, M Branscheidt, A Butala, P Celnik, L de Paola, F B Horak, L Schöls, H A G Teive, A P Vogel, D S Zee, D Timmann
The purpose of this consensus paper is to review electrophysiological abnormalities and to provide a guideline of neurophysiological assessments in cerebellar ataxias. All authors agree that standard electrophysiological methods should be systematically applied in all cases of ataxia to reveal accompanying peripheral neuropathy, the involvement of the dorsal columns, pyramidal tracts and the brainstem. Electroencephalography should also be considered, although findings are frequently non-specific. Electrophysiology helps define the neuronal systems affected by the disease in an individual patient and to understand the phenotypes of the different types of ataxia on a more general level...
April 14, 2018: Cerebellum
https://www.readbyqxmd.com/read/29652299/-ataxia-with-oculomotor-apraxia-type-4-detected-by-next-generation-sequencing
#4
G E Rudenskaya, E I Surkova, F A Konovalov
Ataxias with oculomotor apraxia (AOA) belong to autosomal recessive ataxias. Their common feature is oculomotor apraxia: inability to coordinate eye movements not due to muscle weakness. Next-generation sequencing (NGS) gives unique opportunities of rare disorders diagnostics and discovering of new forms, including AOA. In 2015, AOA type 4 produced by PNKP mutations was delineated in a group of Portuguese patients. We diagnosed AOA4 in a 9-year-old boy from Byelorussian family. He presented with ataxia since 2 years and deterioration in 8 years, oculomotor apraxia, dystonic hyperkinesia, dysarthria, polyneuropathy, borderline/mildly impaired intelligence, cerebellar atrophy on MRI and moderate hypercholesterolemia...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29644085/protein-molecular-modeling-shows-residue-t599-is-critical-to-wild-type-function-of-polg-and-description-of-a-novel-variant-associated-with-the-sando-phenotype
#5
John E Richter, Hector G Robles, Elizabeth Mauricio, Ahmed Mohammad, Paldeep S Atwal, Thomas R Caulfield
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is a rare phenotype resulting from pathogenic variants of mitochondrial DNA polymerase gamma ( POLG ). We modeled a novel POLG variant, T599P, that causes the SANDO phenotype and another variant at the same residue, p.T599E, to observe their effect on protein function and confirm the pathogenicity of T599P. Through neoteric molecular modeling techniques, we show that changes at the T599 residue position introduce extra rigidity into the surrounding helix-loop-helix, which places steric pressure on nearby nucleotides...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29643716/brain-metastasis-from-renal-urothelial-carcinoma-successfully-treated-by-metastasectomy
#6
Wen-Kuei Fang, Yeong-Chin Jou, Yuan-Chang Dai, Pi-Chan Ko, Ya-Fang Huang
Upper tract urothelial cancer (UTUC) arises from the urothelial lining of the urinary tract. UTUC spreads in several different ways including direct invasion, lymphatic spread, and hematogeneous metastases. Regional lymph nodes are commonly the initial site of metastasis, followed by the liver, lung, and bone. Brain metastasis is uncommon in patients with urothelial carcinoma. Here, we report an uncommon case of kidney urothelial carcinoma with brain metastasis in a 55-year-old woman presenting with dysarthria with right side limb weakness...
January 2018: Ci Ji Yi Xue za Zhi, Tzu-chi Medical Journal
https://www.readbyqxmd.com/read/29643681/mismatch-in-brain-perfusion-and-metabolism-detected-with-99m-tc-hexamethyl-propylene-amine-oxime-single-photon-emission-computed-tomography-and-18-f-fluorodeoxyglucose-positron-emission-tomography-in-moyamoya-disease
#7
Justo Serrano Vicente, Luis Fernández Prudencio, José Rafael Infante Torre, Juan Ignacio Rayo Madrid
We report a 47-year-old woman who developed an ischemic stroke with diplopia and dysarthria. Emergency computed tomography (CT) showed no pathological findings, and magnetic resonance (MR) showed mild ischemic-degenerative lesions. MR angiography and angiogram showed severe stenosis of both internal carotid and main intracranial arteries with plenty collateral vessels with "puff of smoke" suggesting a moyamoya disease (MMD). Brain perfusion single-photon emission CT showed global diminished perfusion in the brain lobes and a marked relative hyperperfusion in the cerebellum...
April 2018: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/29627018/bilateral-wallerian-degeneration-of-the-middle-cerebellar-peduncles-secondary-to-pontine-infarction-a-case-series
#8
Yaoyao Shen, Wen Jian, Juan Li, Tingmin Dai, Bing Bao, Hongbing Nie
OBJECTIVE: Wallerian degeneration (WD) of middle cerebellar peduncles (MCPs) secondary to pontine infarction is rarely reported in the literature. Our aim in this study is to characterize its clinical and neuroradiological features. METHODS: A retrospective review of 7 patients from a single institution was conducted. Only patients with pontine infarction and subsequent degeneration of the MCPs were included in the analysis. The features of clinical presentation and neuroimaging finding were summarized by our experienced neurologists...
May 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29620515/progress-in-the-diagnosis-and-management-of-chorea-acanthocytosis
#9
Yang Liu, Zi-Yuan Liu, Xin-Hua Wan, Yi Guo
Chorea-acanthocytosis (ChAc) is the most common subtype of neuroacanthocytosis syndrome, characterized by the presence of acanthocytes and neurological disorders. It is thought to be caused by VPS13A mutations. Characteristic movement disorders in ChAc is choreiform movements affecting both trunk and extremities and prominent orolingual dyskinesia is pathognomonic. Acanthocytosis in peripheral blood smear, elevated serum creatine kinase and atrophy of heads of caudate nuclei and dilation of the anterior horn of the lateral ventricles in magnetic resonance imaging could assist the diagnosis of ChAc...
March 30, 2018: Chinese Medical Sciences Journal, Chung-kuo i Hsüeh K'o Hsüeh Tsa Chih
https://www.readbyqxmd.com/read/29610036/paradoxical-association-of-symptomatic-local-vasogenic-edema-with-global-cerebral-hypoperfusion-after-direct-revascularization-surgery-for-adult-moyamoya-disease
#10
Ryosuke Tashiro, Miki Fujimura, Shunji Mugikura, Kuniyasu Niizuma, Hidenori Endo, Toshiki Endo, Teiji Tominaga
BACKGROUND: Superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis is the standard treatment for Moyamoya disease (MMD). Cerebral hyperperfusion syndrome is a potential complication of this procedure and can cause local vasogenic edema and/or delayed intracerebral hemorrhage. Cerebral hypoperfusion is a contradictory postoperative pathophysiological condition implicated in MMD, but its association with symptomatic local vasogenic edema has not been reported. CASE REPORT: A 31-year-old woman with MMD underwent left STA-MCA anastomosis 3 months after a minor completed stroke in bilateral hemispheres...
March 30, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29607961/a-patient-with-hcv-infection-and-a-sustained-virological-response-to-direct-acting-antiviral-treatment-who-developed-inclusion-body-myositis
#11
Toru Kuwano, Norio Akuta, Fumitaka Suzuki, Shunichiro Fujiyama, Yusuke Kawamura, Hitomi Sezaki, Tetsuya Hosaka, Satoshi Saitoh, Masahiro Kobayashi, Yoshiyuki Suzuki, Mariko Kobayashi, Yasuji Arase, Kenji Ikeda, Hiromitsu Kumada
We report the case of a 75-year-old woman who was found to have hepatitis C virus (HCV) infection in 1987. Before treatment in 2016, she was found to have mixed cryoglobulinemia (MC). Direct-acting antiviral (DAA) treatment produced a sustained virological response 12 (SVR12). She noticed gradual muscle weakness in 2015 and the gradual development of dysarthria and dysphagia in 2017. We performed a muscle biopsy that showed inclusion body myositis (IBM). To the best of our knowledge, this is first case of a patient with HCV infection, MC, and IBM, in which MC and IBM did not improve after an SVR12 was obtained by DAA treatment...
March 30, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29605618/progressive-myoclonus-epilepsy-without-renal-failure-in-a-chinese-family-with-a-novel-mutation-in-scarb2-gene-and-literature-review
#12
Wo-Tu Tian, Xiao-Li Liu, Yang-Qi Xu, Xiao-Jun Huang, Hai-Yan Zhou, Ying Wang, Hui-Dong Tang, Sheng-Di Chen, Xing-Hua Luan, Li Cao
PURPOSE: To describe the clinical and genetic features of a Chinese progressive myoclonus epilepsy (PME) patient related with SCARB2 mutation without renal impairment and review 27 SCARB2-related PME patients from 11 countries. METHODS: The patient was a 27-year-old man with progressive action myoclonus, ataxia, epilepsy, dysarthria and absence of cognitive deterioration. Renal functional test was normal. Electroencephalography (EEG) showed progressively slowed background activity and sporadic generalized spike-and-wave discharges...
March 14, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29605361/combined-nd-yag-laser-and-bleomycin-sclerotherapy-under-the-same-anesthesia-for-cervicofacial-venous-malformations-a-safe-and-effective-treatment-option
#13
Stacie Gregory, Patricia E Burrows, Herodotos Ellinas, Michael Stadler, Robert H Chun
INTRODUCTION: Extensive cervicofacial venous malformations (VM) pose significant challenges to a patient's quality of life (altered breathing, dysphagia, dysarthria). Treatment options include: 1) Surgical debulking; 2) Sclerotherapy; 3) laser therapy; or 4) Combined modalities. Recent studies have demonstrated the importance of multimodality and multidisciplinary management of these patients. However, no studies have described combined single anesthetic laser and sclerotherapy treatment...
May 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29598907/upstream-stimulating-factor-1-usf-1-gene-polymorphisms-and-the-risk-symptoms-and-outcome-of-pediatric-ischemic-stroke
#14
Anna Balcerzyk, Paweł Niemiec, Tomasz Iwanicki, Tomasz Nowak, Ilona Kopyta, Ewa Emich-Widera, Ewa Pilarska, Karolina Pienczk-Ręcławowicz, Marek Kaciński, Janusz Wendorff, Sylwia Górczyńska-Kosiorz, Władyslaw Grzeszczak, Iwona Żak
BACKGROUND: Pediatric ischemic stroke is an important cause of morbidity and mortality. As previous studies of children after stroke showed, dyslipidemias were very common in Polish and other European populations. Thus, looking for genetic factors predisposing to pediatric stroke, its symptoms, and outcome, we have analyzed 2 polymorphisms of the upstream stimulating factor 1 (USF-1) gene. MATERIALS AND METHODS: The study group consisted of 82 children with stroke, 156 parents, and 146 controls...
March 26, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29592973/cortical-laminar-necrosis-in-a-case-of-migrainous-cerebral-infarction
#15
Vikram Khardenavis, Davala Krishna Karthik, Sharvari Kulkarni, Anirudda Deshpande
We report a 27-year-old woman, a known case of classical migraine headache, on oral contraceptive pills. She had a severe episode of migraine with visual aura attack, which continued late into the night. The next early morning, her headache persisted and she developed abrupt onset of dysarthria, right hemiparaesthesias. She attributed symptoms to her long-standing headache problem, and hence did not seek medical help for the next two weeks. The symptoms persisted despite her headache subsiding over the next 24 hours...
March 28, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29588240/superficial-temporal-artery-superior-cerebellar-artery-bypass-with-anterior-petrosectomy-technical-case-report
#16
Masaaki Hokari, Katsuyuki Asaoka, Daisuke Shimbo, Kazuki Uchida, Koji Itamoto
BACKGROUND: Superficial temporal artery (STA) -to- superior cerebellar artery (SCA) bypass is associated with a relatively high risk of surgical complications, such as hematoma and/or edema caused by temporal lobe retraction. Therefore, the right side is typically used to avoid retraction of the left temporal lobe. In this report, we present a case of left STA-SCA bypass with anterior petrosectomy to avoid retraction of dominant side temporal lobe and describe the surgical technique in detail...
March 24, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29580108/the-feasibility-of-assessing-speech-and-non-speech-function-of-the-speech-apparatus-in-adults-with-cerebral-palsy
#17
Theresa Schölderle, Anja Staiger, Wolfram Ziegler
This short note reports on observations concerning the feasibility of a set of speech and non-speech assessment tasks in an investigation of dysarthria in 21 adults (15 males/6 females; median 23 years) with cerebral palsy and concomitant cognitive impairment. The participants were assessed with nine tasks representing standard components of clinical dysarthria assessment (i.e. six speech and three non-speech tasks). The tasks were evaluated for their feasibility on the basis of common clinical criteria. Our results indicated that, overall, speech tasks were more feasible than non-speech tasks...
March 26, 2018: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/29576500/dualistic-effect-of-pallidal-deep-brain-stimulation-on-motor-speech-disorders-in-dystonia
#18
Jan Rusz, Tereza Tykalová, Anna Fečíková, Daniela Šťastná, Dušan Urgošík, Robert Jech
BACKGROUND: Although pallidal deep brain stimulation (GPi-DBS) is an effective treatment for dystonia, it may cause important stimulation-induced side-effects such as hypokinetic dysarthria or stuttering. However, the reasons behind the occurrence of these side-effects remain unknown. OBJECTIVE: To objectively investigate the impact of GPi-DBS on patients with dystonia on speech fluency, intelligibility, and key aspects of hyperkinetic and hypokinetic dysarthria...
March 15, 2018: Brain Stimulation
https://www.readbyqxmd.com/read/29571875/familial-and-sporadic-chronic-progressive-degenerative-parietal-ataxia
#19
Ryuta Morihara, Toru Yamashita, Kentaro Deguchi, Tomoko Kurata, Emi Nomura, Kota Sato, Yumiko Nakano, Yasuyuki Ohta, Nozomi Hishikawa, Takeshi Ikeuchi, Masataka Kitaguchi, Koji Abe
BACKGROUND & OBJECTIVE: Parietal ataxia has been mainly reported as a consequence of acute ischemic stroke, while degenerative parietal ataxia has not been reported. METHODS: We investigated clinical characteristics, neuroimaging data, and genetic analysis of patients with cerebellar ataxia plus parietal atrophy. RESULTS: We identified seven patients, including five patients from two families, with chronic progressive cerebellar ataxia due to degenerative parietal atrophy but not stroke...
April 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29566177/degradation-of-neuronal-encoding-of-speech-in-the-subthalamic-nucleus-in-parkinson-s-disease
#20
Ariel Tankus, Itzhak Fried
BACKGROUND: Most of the patients with Parkinson's disease suffer from speech disorders characterized mainly by dysarthria and hypophonia. OBJECTIVE: To understand the deterioration of speech in the course of Parkinson's disease. METHODS: We intraoperatively recorded single neuron activity in the subthalamic nucleus of 18 neurosurgical patients with Parkinson's disease undergoing implantation of deep brain stimulator while patients articulated 5 vowel sounds...
March 15, 2018: Neurosurgery
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