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https://www.readbyqxmd.com/read/29457122/a-case-of-spinal-anesthesia-in-a-patient-with-progressive-supranuclear-palsy
#1
Momoka Tonan, Moritoki Egi, Nana Furushima, Satoshi Mizobuchi
Progressive supranuclear palsy (PSP) is one of the rare diseases. PSP is characterized by oculomotor dysfunction, postural instability, akinesia, dysarthria, and dysphagia. The major cause of death in patients with PSP is aspiration pneumonia. Considering these complications, spinal anesthesia is useful in patients with PSP. However, the potential harmful effects of spinal anesthesia including neurotoxicity of local anesthetics and neurologic complications for patients with PSP are unclear, because there has been no report...
2018: JA Clin Rep
https://www.readbyqxmd.com/read/29455904/hypoglossal-nerve-paralysis-in-a-child-after-a-dental-procedure
#2
Simona D Marino, Laura Schiavone, Flavia M C La Mendola, Tiziana Timpanaro, Maria Elena Cucuzza, Filippo Greco, Pierluigi Smilari, Agata Fiumara, Andrea Domenico Praticò
Unilateral palsy of the hypoglossal nerve is a rare complication of orthodontic procedures. The main reported causes of HNP are: orthopedic and otorhinolaryngology surgical interventions, and in particular maneuvers involving compression or overstretching of the hypoglossal nerve, dental procedures and traumas, and also infections, motoneuron disorders, tumors, vascular diseases. Diagnosis is usually performed by electrophysiology studies (EMG-VCN), and brain magnetic resonance imaging (MRI) is useful to exclude other causes...
February 6, 2018: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29451027/a-case-of-late-onset-ocd-developing-pls-and-ftd
#3
Enrica Bersano, Maria Francesca Sarnelli, Valentina Solara, Fabiola De Marchi, Gian Mauro Sacchetti, Alessandro Stecco, Lucia Corrado, Sandra D'alfonso, Roberto Cantello, Letizia Mazzini
We describe a 64-year-old woman, suffering from late-onset obsessive-compulsive disorder (OCD) from the age of 57, who developed dysarthria and dysphagia, spastic diplegic, and proximal muscles weakness. Needle electromyography showed no active denervation. Neuropsychological evaluation showed intact cognitive functioning. We diagnosed upper motor neuron disease (MND), with no known genetic correlates. Brain magnetic resonance (MRI) detected bilateral hippocampal atrophy with sclerosis of right hippocampus...
February 16, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29449518/-the-efficacy-of-percutaneous-transluminal-angioplasty-and-stenting-for-traumatic-vertebral-artery-dissection-due-to-cervical-vertebral-fracture
#4
Misato Kawaguchi, Kouhei Nii, Kimiya Sakamoto, Kanae Kawahara, Ritsurou Inoue, Fumihiro Hiraoka, Yusuke Morinaga, Takafumi Mitsutake, Hayatsura Hanada, Masanori Tsutsumi
A 73-year-old man was admitted at another hospital after a traffic accident. The diagnosis was cervical vertebral fracture. Despite conservative treatment, 5 days later he manifested dysarthria due to cerebellar infarction and was transferred to our hospital. Imaging studies revealed right vertebral arterial dissection at the level of the axial fracture. We performed percutaneous transluminal angioplasty with stenting to address his subacute vertebral artery dissection prior to treating the cervical vertebral fracture using external fixation...
February 2018: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/29445532/sleep-disordered-breathing-in-motor-neurone-disease
#5
REVIEW
Rebecca F D'Cruz, Patrick B Murphy, Georgios Kaltsakas
Motor neurone disease (MND) is a neurodegenerative disease defined by axonal loss and gliosis of upper and lower motor neurones in the motor cortex, lower brainstem nuclei and ventral horn of the spinal cord. MND is currently incurable and has a poor prognosis, with death typically occurring 3 to 5 years after disease onset. The disease is characterised by rapidly progressive weakness leading to paralysis, fasciculations, bulbar symptoms (including dysarthria and dysphagia) and respiratory compromise. Respiratory complications arise as a result of weakness of upper airway (pharyngeal and laryngeal) muscles and respiratory muscles (diaphragm, intercostal and accessory muscles) leading to respiratory failure...
January 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29445122/deep-phenotyping-of-speech-and-language-skills-in-individuals-with-16p11-2-deletion
#6
Cristina Mei, Evelina Fedorenko, David J Amor, Amber Boys, Caitlyn Hoeflin, Peter Carew, Trent Burgess, Simon E Fisher, Angela T Morgan
Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohort of individuals with 16p11.2 deletion using a prospectively designed assessment battery. The broader speech and language phenotype associated with carrying this deletion was also examined. 55 participants with 16p11...
February 14, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29443782/putative-lung-adenocarcinoma-with-epidermal-growth-factor-receptor-mutation-presenting-as-carcinoma-of-unknown-primary-site-a-case-report
#7
Masahiro Yamasaki, Kunihiko Funaishi, Naomi Saito, Ayaka Sakano, Megumu Fujihara, Wakako Daido, Sayaka Ishiyama, Naoko Deguchi, Masaya Taniwaki, Nobuyuki Ohashi, Noboru Hattori
RATIONALE: Only a few cases of putative lung adenocarcinoma presenting as carcinoma of unknown primary site (CUP) with epidermal growth factor receptor (EGFR) mutation have been reported, and the efficacy of EGFR-tyrosine kinase inhibitors (TKIs) for these cases is unclear. PATIENT CONCERNS AND DIAGNOSES: A 67-year-old man complained of paresis of the right lower extremity, dysarthria, and memory disturbance. Computed tomography and magnetic resonance imaging showed multiple brain tumors with brain edema and swelling of the left supraclavicular, mediastinal, and upper abdominal lymph nodes...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29437728/large-vessel-stroke-as-initial-presentation-of-thrombotic-thrombocytopenic-purpura
#8
Ryan Sugarman, Andrea M Tufano, Johnson M Liu
A 67-year-old right-handed woman presented with dysarthria, left upper extremity weakness and right-sided neglect of 3 hours duration. Imaging of the brain revealed acute right middle cerebral artery stroke; however, tissue plasminogen activator could not be administered due to severe thrombocytopenia. A peripheral smear revealed schistocytes and the patient was treated empirically for thrombotic thrombocytopenic purpura (TTP) with therapeutic plasma exchange. An extensive workup revealed no embolic source or other cause for stroke, and a diagnosis of large vessel infarct secondary to TTP was made...
February 5, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29436799/-eye-of-the-tiger-in-a-non-responsive-neuropsychiatric-patient-a-case-report
#9
Milad Hosseinialhashemi, Babak Daneshfard, Atefe Hashemi
Hallervorden-Spatz syndrome is a rare neurodegenerative disorder with hereditary properties. It usually occurs in young adolescents with extrapyramidal symptoms besides disturbed mental function. In this study, we present a 23-year-old neuropsychiatric patient who primarily misdiagnosed to have conversion disorder. She had 5-year history of progressive dysarthria and generalized abnormal movements. After detecting the pathognomonic sign of "eye of the tiger" diagnosis was confirmed. The patient was discharged...
January 2018: Acta Medica Iranica
https://www.readbyqxmd.com/read/29434122/spinocerebellar-ataxia-type-31-with-blepharospasm
#10
Sakiko Itaya, Zen Kobayashi, Kokoro Ozaki, Nozomu Sato, Yoshiyuki Numasawa, Kinya Ishikawa, Takanori Yokota, Hiroshi Matsuda, Shuzo Shintani
A 58-year-old man consulted our hospital due to a 2-year history of dysarthria and a 1-month history of blepharospasm. In addition to the ataxic dysarthria and blepharospasm, a neurological examination demonstrated slight ataxia of the trunk and lower limbs. Brain MRI demonstrated atrophy of the upper portion of the cerebellar vermis. Gene analysis established a diagnosis of spinocerebellar ataxia type 31 (SCA31). SPECT with the three-dimensional stereotaxic ROI template (3DSRT) software program demonstrated hyperperfusion in the lenticular nucleus and thalamus...
February 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29429785/spinal-primary-central-nervous-system-lymphoma-case-report-and-literature-review
#11
REVIEW
Li Feng, Dingbang Chen, Hongyan Zhou, Cunzhou Shen, Haiyan Wang, Xunsha Sun, Xiulin Liang, Ling Chen
Primary central nervous system lymphoma (PCNSL) is a very rare tumor of increasing incidence. It is often misdiagnosed due to the unspecific presentation or unavailable biopsy, and results in poor prognosis. PCNSL involved the spinal cord is extremely sparse. Here we report a gentleman presented with one-year history of progressive tremor in the left limbs and slight dysarthria as well as three-month history of paraparesis, tinnitus and insomnia. MR images disclosed the swollen cerebellum and cauda equine, with contrast enhancement in both meninges and nerve roots...
February 8, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29426369/cervico-shoulder-dystonia-following-lateral-medullary-infarction-a-case-report-and-review-of-the-literature
#12
Takashi Ogawa, Yuri Shojima, Takuma Kuroki, Hiroto Eguchi, Nobutaka Hattori, Hideto Miwa
BACKGROUND: Secondary cervical dystonia is induced by organic brain lesions involving the basal ganglia, thalamus, cerebellum, and brain stem. It is extremely rare to see cervical dystonia induced by a medullary lesion. CASE PRESENTATION: We report a case of an 86-year-old Japanese woman who developed cervical dystonia following lateral medullary infarction. She developed sudden-onset left upper and lower extremity weakness, right-side numbness, and dysarthria. Brain magnetic resonance imaging revealed an acute ischemic lesion involving the left lateral and dorsal medullae...
February 10, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29423566/clinical-and-neuroimaging-features-of-autosomal-recessive-spastic-paraplegia-35-spg35-case-reports-new-mutations-and-brief-literature-review
#13
Francesco Mari, Beatrice Berti, Alessandro Romano, Jacopo Baldacci, Riccardo Rizzi, M Grazia Alessandrì, Alessandra Tessa, Elena Procopio, Anna Rubegni, Charles Marques Lourenḉo, Alessandro Simonati, Renzo Guerrini, Filippo Maria Santorelli
Spastic paraplegia 35 (SPG35) is a recessive condition characterized by childhood onset, progressive course, complicated by dystonia, dysarthria, cognitive impairment, and epilepsy. Mutations in the FA2H gene have been described in several families, leading to the proposal of a single entity, named fatty acid hydrolase-associated neurodegeneration (FAHN). Several reports have described a polymorphic radiological picture with white matter lesions of various degrees and a distinct form of neurodegeneration with brain iron accumulation...
February 8, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29422362/multiple-cranial-neuropathies-as-a-presentation-of-spontaneous-internal-carotid-artery-dissection-a-case-report-and-literature-review
#14
Stephen W English, Theodore J Passe, E Paul Lindell, James P Klaas
Cervical artery dissection is an underrecognized cause of lower cranial neuropathies and diagnosis can remain elusive if not properly investigated. We present a case of an internal carotid artery dissection that was initially missed in a 48-year-old man who presented with subacute-onset of dysarthria, dysphagia, and unilateral tongue weakness. Knowledge of the most common presenting symptoms, relevant neuroanatomy, and neuroimaging techniques is essential to avoid misdiagnosis. Pseudoaneurysm formation from subadventitial carotid artery dissection may result in compressive neuropathies of cranial nerves IX, X, XI, and XII without associated cerebral ischemia...
February 5, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29416937/spinocerebellar-ataxia-27-a-review-and-characterization-of-an-evolving-phenotype
#15
REVIEW
Christopher L Groth, Brian D Berman
Background: Spinocerebellar ataxia (SCA) is an uncommon form of progressive cerebellar ataxia with multiple genetic causes and marked variability in phenotypic expression even across patients with identical genetic abnormalities. SCA27 is a recently identified SCA caused by mutations in the Fibroblast Growth Factor 14 gene, with a phenotypic expression that is only beginning to be fully appreciated. We report here a case of a 70-year-old male who presented with slowly worsening tremor and gait instability that began in his early adulthood along with additional features of parkinsonism on examination...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29406916/quantitative-transcranial-sonography-in-wilson-s-disease-and-healthy-controls-cut-off-values-and-functional-correlates
#16
Gotthard G Tribl, Mateus C Trindade, Kelson James Almeida, Rosana Cardoso Alves, Daniel Ciampi de Andrade, Erich T Fonoff, Alexandre A Machado, Manoel J Teixeira, Egberto R Barbosa, Edson Bor-Seng-Shu
To compare transcranial sonography (TCS) findings in patients with predominantly neurological Wilson's disease (WD) to those from controls, and to correlate TCS data with the clinical profile of WD. Patients with WD (n=40/f=18) and healthy, matched controls (n=49/f=20) were assessed in terms of TCS, serum copper and iron parameters, and clinical scales, such as the Unified Wilson's Disease Rating Scale (UWDRS), Addenbrooke's Cognitive Examination-Revised (ACE-R), Mini Mental State Examination (MMSE), and Beck Depression Inventory...
February 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29394628/-a-case-of-skull-base-metastasis-of-breast-cancer-with-dysphasia-odynophagia-and-dysarthria
#17
Hirotoshi Takahashi, Maya Uno, Kazuya Miyoshi
While skull base metastases from breast cancer are not uncommon, there are relatively few reported cases in the literature. We report a case of skull base metastasis of breast cancer that resulted in dysphasia, odynophagia, and dysarthria. The case involved a woman in her 50 s who was diagnosed with cancer of the right breast(cT4N1M0, cStage III B)at another medical institution 9 years previously and who underwent a partial mastectomy and an axillary lymph node dissection following neoadjuvant chemotherapy...
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29394625/-a-case-of-metastasis-to-the-base-of-the-skull-after-rectal-cancer-operation-with-symptom-management-via-radiotherapy
#18
Megumi Sasaki, Toshiaki Ishikawa, Shinichi Yamauchi, Fukuichiro Orita, Tomiyuki Miura, Michiyo Tokura, Marie Hanaoka, Akifumi Kikuchi, Megumi Ishiguro, Masamichi Yasuno, Hiroyuki Uetake
In 2009, A 67-year-old woman underwent high anterior resection for rectal cancer(RS, type 2, pT3, pN1, cM0, pStage III a). U FT/LV was administered for 6 months as adjuvant chemotherapy after the operation. Because peritoneum dissemination and pelvic lymph node metastasis developed 9 months after the operation, CapeOX plus Bmab therapy was started, and we monitored the cancer partial response for the next 6 years. Six years and 9 months after the operation, we detected metastasis to the sacrum; thus, radiotherapy was started...
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29393211/the-radboud-dysarthria-assessment-development-and-clinimetric-evaluation
#19
Simone Knuijt, Johanna G Kalf, Baziel G M van Engelen, Bert J M de Swart, Alexander C H Geurts
OBJECTIVE: In the absence of an adequate dysarthria assessment in the Netherlands, we developed the Radboud Dysarthria Assessment (RDA). This article describes its development and clinimetric evaluation. PATIENTS AND METHODS: Forty-three patients were assessed with the RDA. The recording forms were subjected to exploratory factor analysis and estimation of internal consistency. The self-evaluation questionnaire was tested for internal consistency and the severity scale for intra- and inter-rater reliability...
January 26, 2018: Folia Phoniatrica et Logopaedica
https://www.readbyqxmd.com/read/29380161/cerebellar-involvement-in-patients-withprimary-sj%C3%A3-gren-s-syndrome-diagnosis-and-treatment
#20
Huaxia Yang, Yinghao Sun, Lidan Zhao, Xuan Zhang, Fengchun Zhang
The aim of this study is to describe the clinical features of cerebellar involvement in patients with primary Sjögren's syndrome (pSS). We retrospectively analyzed the manifestations, treatments, and outcomes in patients with pSS-cerebellar complication in Peking Union Medical College Hospital and cases reported in literature. Altogether 13 patients were identified. They were 2 males and 11 females with a mean age at disease onset of 45.2 ± 14.6 years. Nine (69.2%) patients went to the clinic because of ataxia, and pSS was not suspected until accidental screening for autoantibodies...
January 29, 2018: Clinical Rheumatology
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